diff --git a/testing/README.md b/testing/README.md index b6b4425..48bb85a 100644 --- a/testing/README.md +++ b/testing/README.md @@ -1,6 +1,6 @@ # Test data -This test data was compiled by Lijia Huang (CHEO Hospital), Bailey Gallinger (SickKids), and Orion Buske (University of Toronto/SickKids). +Test data was compiled by Lijia Huang (CHEO Hospital), Bailey Gallinger (SickKids), and Orion Buske (University of Toronto/SickKids). -TODO: - - Extract `end`, `referenceBases`, and `alternateBases` from HGVS variants. +There is currently one file containing test data: +* `benchmark_patients.json`: a benchmark data set of 50 test patients compiled from the literature. It contain a JSON-formatted list of patient objects, suitable for loading into a database or including in a match request. diff --git a/testing/test.json b/testing/benchmark_patients.json similarity index 90% rename from testing/test.json rename to testing/benchmark_patients.json index 3a3bb16..9f626e9 100644 --- a/testing/test.json +++ b/testing/benchmark_patients.json @@ -98,11 +98,14 @@ "label": "STOPGAIN" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_004247.3(EFTUD2):c.2770C>T", + "end": 42929131, + "referenceBases": "G", "referenceName": "17", - "start": 42929131 - } + "start": 42929130 + }, + "zygosity": 1 } ], "id": "P0000079", @@ -213,11 +216,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_006463.4(STAMBP):c.125A>G", + "end": 74058108, + "referenceBases": "A", "referenceName": "2", - "start": 74058108 - } + "start": 74058107 + }, + "zygosity": 1 }, { "gene": { @@ -228,11 +234,14 @@ "label": "STOPGAIN" }, "variant": { + "alternateBases": "T", "assembly": "GRCh37", - "hgvs": "NM_006463.4(STAMBP):c.532C>T", + "end": 74074670, + "referenceBases": "C", "referenceName": "2", - "start": 74074670 - } + "start": 74074669 + }, + "zygosity": 1 } ], "id": "P0000083", @@ -333,11 +342,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "C", "assembly": "GRCh37", - "hgvs": "NM_000414.3(HSD17B4):c.1547T>C", + "end": 118860954, + "referenceBases": "T", "referenceName": "5", - "start": 118860954 - } + "start": 118860953 + }, + "zygosity": 1 }, { "gene": { @@ -348,11 +360,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "T", "assembly": "GRCh37", - "hgvs": "NM_000414.3(HSD17B4):c.101C>T", + "end": 118792052, + "referenceBases": "C", "referenceName": "5", - "start": 118792052 - } + "start": 118792051 + }, + "zygosity": 1 } ], "id": "P0000282", @@ -403,26 +418,14 @@ "label": "SPLICING" }, "variant": { + "alternateBases": "C", "assembly": "GRCh37", - "hgvs": "NM_005559.3(LAMA1):c.588+2T>G", + "end": 7050691, + "referenceBases": "A", "referenceName": "18", - "start": 7050691 - } - }, - { - "gene": { - "id": "LAMA1" - }, - "type": { - "id": "SO:0001630", - "label": "SPLICING" + "start": 7050690 }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_005559.3(LAMA1):c.588+2T>G", - "referenceName": "18", - "start": 7050691 - } + "zygosity": 2 } ], "id": "P0000333", @@ -478,11 +481,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "C", "assembly": "GRCh37", - "hgvs": "NM_001136037.2(LIMS2):c.342C>G", + "end": 128412081, + "referenceBases": "G", "referenceName": "2", - "start": 128412081 - } + "start": 128412080 + }, + "zygosity": 1 }, { "gene": { @@ -493,11 +499,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_001136037.2(LIMS2):c.356C>T", + "end": 128412067, + "referenceBases": "G", "referenceName": "2", - "start": 128412067 - } + "start": 128412066 + }, + "zygosity": 1 }, { "gene": { @@ -508,11 +517,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_001136037.2(LIMS2):c.1034T>C", + "end": 128396914, + "referenceBases": "A", "referenceName": "2", - "start": 128396914 - } + "start": 128396913 + }, + "zygosity": 1 } ], "id": "P0001009", @@ -563,11 +575,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "C", "assembly": "GRCh37", - "hgvs": "NM_001136037.2(LIMS2):c.342C>G", + "end": 128412081, + "referenceBases": "G", "referenceName": "2", - "start": 128412081 - } + "start": 128412080 + }, + "zygosity": 1 }, { "gene": { @@ -578,11 +593,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_001136037.2(LIMS2):c.356C>T", + "end": 128412067, + "referenceBases": "G", "referenceName": "2", - "start": 128412067 - } + "start": 128412066 + }, + "zygosity": 1 }, { "gene": { @@ -593,11 +611,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_001136037.2(LIMS2):c.1034T>C", + "end": 128396914, + "referenceBases": "A", "referenceName": "2", - "start": 128396914 - } + "start": 128396913 + }, + "zygosity": 1 } ], "id": "P0001010", @@ -638,26 +659,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "T", "assembly": "GRCh37", - "hgvs": "NM_004963.3(GUCY2C):c.2008G>A", + "end": 14794076, + "referenceBases": "C", "referenceName": "12", - "start": 14794076 - } - }, - { - "gene": { - "id": "GUCY2C" + "start": 14794075 }, - "type": { - "id": "SO:0001583", - "label": "MISSENSE" - }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_004963.3(GUCY2C):c.2008G>A", - "referenceName": "12", - "start": 14794076 - } + "zygosity": 2 } ], "id": "P0001011", @@ -698,11 +707,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "T", "assembly": "GRCh37", - "hgvs": "NM_004963.3(GUCY2C):c.2008G>A", + "end": 14794076, + "referenceBases": "C", "referenceName": "12", - "start": 14794076 - } + "start": 14794075 + }, + "zygosity": 1 }, { "gene": { @@ -713,11 +725,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_004963.3(GUCY2C):c.2008G>A", + "end": 14772238, + "referenceBases": "A", "referenceName": "12", - "start": 14794076 - } + "start": 14772237 + }, + "zygosity": 1 } ], "id": "P0001012", @@ -798,11 +813,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_005548.2(KARS):c.1312C>T", + "end": 75665092, + "referenceBases": "G", "referenceName": "16", - "start": 75665092 - } + "start": 75665091 + }, + "zygosity": 1 }, { "gene": { @@ -813,11 +831,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "T", "assembly": "GRCh37", - "hgvs": "NM_005548.2(KARS):c.1573G>A", + "end": 75662589, + "referenceBases": "C", "referenceName": "16", - "start": 75662589 - } + "start": 75662588 + }, + "zygosity": 1 } ], "id": "P0001013", @@ -883,11 +904,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_005548.2(KARS):c.1312C>T", + "end": 75665092, + "referenceBases": "G", "referenceName": "16", - "start": 75665092 - } + "start": 75665091 + }, + "zygosity": 1 }, { "gene": { @@ -898,11 +922,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "T", "assembly": "GRCh37", - "hgvs": "NM_005548.2(KARS):c.1573G>A", + "end": 75662589, + "referenceBases": "C", "referenceName": "16", - "start": 75662589 - } + "start": 75662588 + }, + "zygosity": 1 } ], "id": "P0001014", @@ -968,26 +995,14 @@ "label": "STOPGAIN" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_003895.3(SYNJ1):c.406C>T", + "end": 34072338, + "referenceBases": "G", "referenceName": "21", - "start": 34072338 - } - }, - { - "gene": { - "id": "SYNJ1" - }, - "type": { - "id": "SO:0001587", - "label": "STOPGAIN" + "start": 34072337 }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_003895.3(SYNJ1):c.406C>T", - "referenceName": "21", - "start": 34072338 - } + "zygosity": 2 } ], "id": "P0001015", @@ -1078,26 +1093,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "T", "assembly": "GRCh37", - "hgvs": "NM_018060.3(IARS2):c.2726C>T", + "end": 220316451, + "referenceBases": "C", "referenceName": "1", - "start": 220316451 - } - }, - { - "gene": { - "id": "IARS2" + "start": 220316450 }, - "type": { - "id": "SO:0001583", - "label": "MISSENSE" - }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_018060.3(IARS2):c.2726C>T", - "referenceName": "1", - "start": 220316451 - } + "zygosity": 2 } ], "id": "P0001016", @@ -1203,11 +1206,14 @@ "label": "SPLICING" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_005559.3(LAMA1):c.6345+3G>C", + "end": 6977723, + "referenceBases": "C", "referenceName": "18", - "start": 6977723 - } + "start": 6977722 + }, + "zygosity": 1 }, { "gene": { @@ -1219,10 +1225,9 @@ }, "variant": { "assembly": "GRCh37", - "hgvs": "NM_005559.3(LAMA1):c.exon4-11del", - "referenceName": "18", - "start": 7038809 - } + "referenceName": "18" + }, + "zygosity": 1 } ], "id": "P0001017", @@ -1304,10 +1309,9 @@ }, "variant": { "assembly": "GRCh37", - "hgvs": "NM_005559.3(LAMA1):c.7965-15_7965-3del", - "referenceName": "18", - "start": 6956767 - } + "referenceName": "18" + }, + "zygosity": 1 }, { "gene": { @@ -1318,11 +1322,14 @@ "label": "FRAMESHIFT" }, "variant": { + "alternateBases": "T", "assembly": "GRCh37", - "hgvs": "NM_005559.3(LAMA1):c.2988_2989delA", + "end": 7016493, + "referenceBases": "GT", "referenceName": "18", - "start": 7016490 - } + "start": 7016491 + }, + "zygosity": 1 } ], "id": "P0001018", @@ -1438,11 +1445,14 @@ "label": "FRAMESHIFT" }, "variant": { + "alternateBases": "AGGG", "assembly": "GRCh37", - "hgvs": "NM_005559.3(LAMA1):c.6701delC", + "end": 6973132, + "referenceBases": "AGGGG", "referenceName": "18", - "start": 6973129 - } + "start": 6973127 + }, + "zygosity": 1 }, { "gene": { @@ -1453,11 +1463,14 @@ "label": "SPLICING" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_005559.3(LAMA1):c.8557-1G>C", + "end": 6948556, + "referenceBases": "C", "referenceName": "18", - "start": 6948556 - } + "start": 6948555 + }, + "zygosity": 1 }, { "gene": { @@ -1468,11 +1481,14 @@ "label": "SPLICING" }, "variant": { + "alternateBases": "T", "assembly": "GRCh37", - "hgvs": "NM_005559.3(LAMA1):c.768+1G>A", + "end": 7049076, + "referenceBases": "C", "referenceName": "18", - "start": 7049076 - } + "start": 7049075 + }, + "zygosity": 1 } ], "id": "P0001019", @@ -1553,11 +1569,14 @@ "label": "FRAMESHIFT" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_005559.3(LAMA1):c.2816_2817delAT", + "end": 7016663, + "referenceBases": "AAT", "referenceName": "18", - "start": 7016662 - } + "start": 7016660 + }, + "zygosity": 1 }, { "gene": { @@ -1568,11 +1587,14 @@ "label": "STOPGAIN" }, "variant": { + "alternateBases": "C", "assembly": "GRCh37", - "hgvs": "NM_005559.3(LAMA1):c.555T>G", + "end": 7050726, + "referenceBases": "A", "referenceName": "18", - "start": 7050726 - } + "start": 7050725 + }, + "zygosity": 1 } ], "id": "P0001022", @@ -1663,11 +1685,14 @@ "label": "FRAMESHIFT" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_005559.3(LAMA1):c.2816_2817delAT", + "end": 7016663, + "referenceBases": "AAT", "referenceName": "18", - "start": 7016662 - } + "start": 7016660 + }, + "zygosity": 1 }, { "gene": { @@ -1678,11 +1703,14 @@ "label": "STOPGAIN" }, "variant": { + "alternateBases": "C", "assembly": "GRCh37", - "hgvs": "NM_005559.3(LAMA1):c.555T>G", + "end": 7050726, + "referenceBases": "A", "referenceName": "18", - "start": 7050726 - } + "start": 7050725 + }, + "zygosity": 1 } ], "id": "P0001023", @@ -1723,11 +1751,14 @@ "label": "INTRONIC" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_003091.3(SNRPB):c.155+301G>C", + "end": 2447952, + "referenceBases": "C", "referenceName": "20", - "start": 2447952 - } + "start": 2447951 + }, + "zygosity": 1 } ], "id": "P0001024", @@ -1788,11 +1819,14 @@ "label": "INTRONIC" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_003091.3(SNRPB):c.155+301G>C", + "end": 2447952, + "referenceBases": "C", "referenceName": "20", - "start": 2447952 - } + "start": 2447951 + }, + "zygosity": 1 } ], "id": "P0001025", @@ -1868,11 +1902,14 @@ "label": "INTRONIC" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_003091.3(SNRPB):c.155+301G>C", + "end": 2447952, + "referenceBases": "C", "referenceName": "20", - "start": 2447952 - } + "start": 2447951 + }, + "zygosity": 1 } ], "id": "P0001026", @@ -1948,11 +1985,14 @@ "label": "INTRONIC" }, "variant": { + "alternateBases": "T", "assembly": "GRCh37", - "hgvs": "NM_003091.3(SNRPB):c.155+406C>A", + "end": 2447847, + "referenceBases": "G", "referenceName": "20", - "start": 2447847 - } + "start": 2447846 + }, + "zygosity": 1 } ], "id": "P0001027", @@ -2028,11 +2068,14 @@ "label": "3'UTR" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_003091.3(SNRPB):c.-72G>A", + "end": 2451408, + "referenceBases": "G", "referenceName": "20", - "start": 2451408 - } + "start": 2451407 + }, + "zygosity": 1 } ], "id": "P0001029", @@ -2078,11 +2121,14 @@ "label": "INTRONIC" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_003091.3(SNRPB):c.155+301G>C", + "end": 2447952, + "referenceBases": "C", "referenceName": "20", - "start": 2447952 - } + "start": 2447951 + }, + "zygosity": 1 } ], "id": "P0001030", @@ -2143,11 +2189,14 @@ "label": "INTRONIC" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_003091.3(SNRPB):c.155+301G>C", + "end": 2447952, + "referenceBases": "C", "referenceName": "20", - "start": 2447952 - } + "start": 2447951 + }, + "zygosity": 1 } ], "id": "P0001049", @@ -2208,11 +2257,14 @@ "label": "INTRONIC" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_003091.3(SNRPB):c.155+300G>C", + "end": 2447953, + "referenceBases": "C", "referenceName": "20", - "start": 2447953 - } + "start": 2447952 + }, + "zygosity": 1 } ], "id": "P0001052", @@ -2283,11 +2335,14 @@ "label": "INTRONIC" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_003091.3(SNRPB):c.155+300G>C", + "end": 2447953, + "referenceBases": "C", "referenceName": "20", - "start": 2447953 - } + "start": 2447952 + }, + "zygosity": 1 } ], "id": "P0001053", @@ -2353,11 +2408,14 @@ "label": "INTRONIC" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_003091.3(SNRPB):c.155+301G>C", + "end": 2447952, + "referenceBases": "C", "referenceName": "20", - "start": 2447952 - } + "start": 2447951 + }, + "zygosity": 1 } ], "id": "P0001054", @@ -2433,11 +2491,14 @@ "label": "INTRONIC" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_003091.3(SNRPB):c.155+300G>C", + "end": 2447953, + "referenceBases": "C", "referenceName": "20", - "start": 2447953 - } + "start": 2447952 + }, + "zygosity": 1 } ], "id": "P0001055", @@ -2503,11 +2564,14 @@ "label": "INTRONIC" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_003091.3(SNRPB):c.155+407C>T", + "end": 2447846, + "referenceBases": "G", "referenceName": "20", - "start": 2447846 - } + "start": 2447845 + }, + "zygosity": 1 } ], "id": "P0001056", @@ -2588,11 +2652,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "C", "assembly": "GRCh37", - "hgvs": "NM_001134407.1(GRIN2A):c.2449A>G", + "end": 9862854, + "referenceBases": "T", "referenceName": "16", - "start": 9862854 - } + "start": 9862853 + }, + "zygosity": 1 } ], "id": "P0001057", @@ -2693,11 +2760,14 @@ "label": "SPLICING" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_001039848.1(GPX4):c.587+5G>A", + "end": 1105813, + "referenceBases": "G", "referenceName": "19", - "start": 1105813 - } + "start": 1105812 + }, + "zygosity": 1 }, { "gene": { @@ -2708,11 +2778,14 @@ "label": "SPLICING" }, "variant": { + "alternateBases": "C", "assembly": "GRCh37", - "hgvs": "NM_001039848.1(GPX4):c.588-8_588-4del", + "end": 1106237, + "referenceBases": "CTTTTC", "referenceName": "19", - "start": 1106233 - } + "start": 1106231 + }, + "zygosity": 1 } ], "id": "P0001058", @@ -2818,26 +2891,14 @@ "label": "STOPGAIN" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_001039848.1(GPX4):c.381C>A", + "end": 1105455, + "referenceBases": "C", "referenceName": "19", - "start": 1105455 - } - }, - { - "gene": { - "id": "GPX4" - }, - "type": { - "id": "SO:0001587", - "label": "STOPGAIN" + "start": 1105454 }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_001039848.1(GPX4):c.381C>A", - "referenceName": "19", - "start": 1105455 - } + "zygosity": 2 } ], "id": "P0001059", @@ -2898,11 +2959,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "T", "assembly": "GRCh37", - "hgvs": "NM_002047.2(GARS):c.1904C>T", + "end": 30671863, + "referenceBases": "C", "referenceName": "7", - "start": 30671863 - } + "start": 30671862 + }, + "zygosity": 1 }, { "gene": { @@ -2913,11 +2977,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_002047.2(GARS):c.1787G>A", + "end": 30668263, + "referenceBases": "G", "referenceName": "7", - "start": 30668263 - } + "start": 30668262 + }, + "zygosity": 1 } ], "id": "P0001060", @@ -3043,11 +3110,14 @@ "label": "FRAMESHIFT" }, "variant": { + "alternateBases": "TGG", "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1891delC", + "end": 25761027, + "referenceBases": "TGGG", "referenceName": "3", - "start": 25761025 - } + "start": 25761023 + }, + "zygosity": 1 }, { "gene": { @@ -3058,11 +3128,14 @@ "label": "STOPGAIN" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1201A>T", + "end": 25775422, + "referenceBases": "T", "referenceName": "3", - "start": 25775422 - } + "start": 25775421 + }, + "zygosity": 1 } ], "id": "P0001069", @@ -3163,26 +3236,14 @@ "label": "FRAMESHIFT" }, "variant": { + "alternateBases": "TCCCCCC", "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1370dupG", + "end": 25773869, + "referenceBases": "TCCCCC", "referenceName": "3", - "start": 25773865 - } - }, - { - "gene": { - "id": "NGLY1" + "start": 25773863 }, - "type": { - "id": "SO:0001589", - "label": "FRAMESHIFT" - }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1370dupG", - "referenceName": "3", - "start": 25773865 - } + "zygosity": 2 } ], "id": "P0001070", @@ -3333,26 +3394,14 @@ "label": "STOPGAIN" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1201A>T", + "end": 25775422, + "referenceBases": "T", "referenceName": "3", - "start": 25775422 - } - }, - { - "gene": { - "id": "NGLY1" + "start": 25775421 }, - "type": { - "id": "SO:0001587", - "label": "STOPGAIN" - }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1201A>T", - "referenceName": "3", - "start": 25775422 - } + "zygosity": 2 } ], "id": "P0001071", @@ -3513,26 +3562,14 @@ "label": "STOPGAIN" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1201A>T", + "end": 25775422, + "referenceBases": "T", "referenceName": "3", - "start": 25775422 - } - }, - { - "gene": { - "id": "NGLY1" - }, - "type": { - "id": "SO:0001587", - "label": "STOPGAIN" + "start": 25775421 }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1201A>T", - "referenceName": "3", - "start": 25775422 - } + "zygosity": 2 } ], "id": "P0001076", @@ -3618,26 +3655,14 @@ "label": "STOPGAIN" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1201A>T", + "end": 25775422, + "referenceBases": "T", "referenceName": "3", - "start": 25775422 - } - }, - { - "gene": { - "id": "NGLY1" + "start": 25775421 }, - "type": { - "id": "SO:0001587", - "label": "STOPGAIN" - }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1201A>T", - "referenceName": "3", - "start": 25775422 - } + "zygosity": 2 } ], "id": "P0001078", @@ -3768,26 +3793,14 @@ "label": "STOPGAIN" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1201A>T", + "end": 25775422, + "referenceBases": "T", "referenceName": "3", - "start": 25775422 - } - }, - { - "gene": { - "id": "NGLY1" + "start": 25775421 }, - "type": { - "id": "SO:0001587", - "label": "STOPGAIN" - }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1201A>T", - "referenceName": "3", - "start": 25775422 - } + "zygosity": 2 } ], "id": "P0001079", @@ -3923,26 +3936,14 @@ "label": "STOPGAIN" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1201A>T", + "end": 25775422, + "referenceBases": "T", "referenceName": "3", - "start": 25775422 - } - }, - { - "gene": { - "id": "NGLY1" + "start": 25775421 }, - "type": { - "id": "SO:0001587", - "label": "STOPGAIN" - }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1201A>T", - "referenceName": "3", - "start": 25775422 - } + "zygosity": 2 } ], "id": "P0001080", @@ -3993,26 +3994,14 @@ "label": "FRAMESHIFT" }, "variant": { + "alternateBases": "CTTTT", "assembly": "GRCh37", - "hgvs": "NM_001083961.1(WDR62):c.1821dupT", + "end": 36579992, + "referenceBases": "CTTT", "referenceName": "19", - "start": 36579992 - } - }, - { - "gene": { - "id": "WDR62" - }, - "type": { - "id": "SO:0001589", - "label": "FRAMESHIFT" + "start": 36579988 }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_001083961.1(WDR62):c.1821dupT", - "referenceName": "19", - "start": 36579992 - } + "zygosity": 2 } ], "id": "P0001081", @@ -4093,11 +4082,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "T", "assembly": "GRCh37", - "hgvs": "NM_152296(ATP1A3):c.2452G>A", + "end": 42474427, + "referenceBases": "C", "referenceName": "19", - "start": 42474427 - } + "start": 42474426 + }, + "zygosity": 1 } ], "id": "P0001084", @@ -4263,11 +4255,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_003036.3(SKI):c.347G>A", + "end": 2160552, + "referenceBases": "G", "referenceName": "1", - "start": 2160552 - } + "start": 2160551 + }, + "zygosity": 1 } ], "id": "P0001085", @@ -4418,11 +4413,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_005589(ALDH6A1):c.514T>C", + "end": 74538114, + "referenceBases": "A", "referenceName": "14", - "start": 74538114 - } + "start": 74538113 + }, + "zygosity": 1 }, { "gene": { @@ -4433,11 +4431,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_005589(ALDH6A1):c.1603C>T", + "end": 74527350, + "referenceBases": "G", "referenceName": "14", - "start": 74527350 - } + "start": 74527349 + }, + "zygosity": 1 } ], "id": "P0001086", @@ -4508,11 +4509,14 @@ "label": "FRAMESHIFT" }, "variant": { + "alternateBases": "AC", "assembly": "GRCh37", - "hgvs": "NM_181523.2(PIK3R1):c.1906_1907insC", + "end": 67592090, + "referenceBases": "A", "referenceName": "5", - "start": 67592090 - } + "start": 67592089 + }, + "zygosity": 1 } ], "id": "P0001091", @@ -4623,26 +4627,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_024339.3(THOC6):c.136G>A", + "end": 3075805, + "referenceBases": "G", "referenceName": "16", - "start": 3075805 - } - }, - { - "gene": { - "id": "THOC6" - }, - "type": { - "id": "SO:0001583", - "label": "MISSENSE" + "start": 3075804 }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_024339.3(THOC6):c.136G>A", - "referenceName": "16", - "start": 3075805 - } + "zygosity": 2 } ], "id": "P0001105", @@ -4723,26 +4715,14 @@ "label": "STOPGAIN" }, "variant": { + "alternateBases": "T", "assembly": "GRCh37", - "hgvs": "NM_138387.3(G6PC3):c.829C>T", + "end": 42153199, + "referenceBases": "C", "referenceName": "17", - "start": 42153199 - } - }, - { - "gene": { - "id": "G6PC3" - }, - "type": { - "id": "SO:0001587", - "label": "STOPGAIN" + "start": 42153198 }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_138387.3(G6PC3):c.829C>T", - "referenceName": "17", - "start": 42153199 - } + "zygosity": 2 } ], "id": "P0001106", @@ -4788,26 +4768,14 @@ "label": "SPLICING" }, "variant": { + "alternateBases": "T", "assembly": "GRCh37", - "hgvs": "NM_020458.2(TTC7A):c.1001+3_1001+6del", + "end": 47221659, + "referenceBases": "TAAGT", "referenceName": "2", - "start": 47221656 - } - }, - { - "gene": { - "id": "TTC7A" + "start": 47221654 }, - "type": { - "id": "SO:0001630", - "label": "SPLICING" - }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_020458.2(TTC7A):c.1001+3_1001+6del", - "referenceName": "2", - "start": 47221656 - } + "zygosity": 2 } ], "id": "P0001107", @@ -4853,26 +4821,14 @@ "label": "MISSENSE" }, "variant": { + "alternateBases": "C", "assembly": "GRCh37", - "hgvs": "NM_001012410.3(SGOL1):c.67A>G", + "end": 20225453, + "referenceBases": "T", "referenceName": "3", - "start": 20225453 - } - }, - { - "gene": { - "id": "SGOL1" + "start": 20225452 }, - "type": { - "id": "SO:0001583", - "label": "MISSENSE" - }, - "variant": { - "assembly": "GRCh37", - "hgvs": "NM_001012410.3(SGOL1):c.67A>G", - "referenceName": "3", - "start": 20225453 - } + "zygosity": 2 } ], "id": "P0001108", @@ -5008,11 +4964,14 @@ "label": "INFRAME-DELETION" }, "variant": { + "alternateBases": "G", "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1205_1207del", + "end": 25775418, + "referenceBases": "GTTC", "referenceName": "3", - "start": 25775416 - } + "start": 25775414 + }, + "zygosity": 1 }, { "gene": { @@ -5023,11 +4982,14 @@ "label": "STOPGAIN" }, "variant": { + "alternateBases": "A", "assembly": "GRCh37", - "hgvs": "NM_018297.3(NGLY1):c.1570C>T", + "end": 25761670, + "referenceBases": "G", "referenceName": "3", - "start": 25770665 - } + "start": 25761669 + }, + "zygosity": 1 } ], "id": "P0001135", diff --git a/testing/fhs.json b/testing/fhs.json deleted file mode 100644 index 71b007e..0000000 --- a/testing/fhs.json +++ /dev/null @@ -1,652 +0,0 @@ -[ - { - "test": true, - "id": "F0000009", - "label": "174_81272", - "contact": { - "name": "FORGE Canada", - "href": "http://dx.doi.org/10.1016/j.ajhg.2011.12.001" - }, - "species": "NCBITaxon:9606", - "sex": "MALE", - "inheritanceMode": "HP:0000006", - "disorders": [ - { - "id": "MIM:136140", - "label": "#136140 FLOATING-HARBOR SYNDROME; FLHS" - } - ], - "features": [ - { - "id": "HP:0001156", - "label": "Brachydactyly syndrome", - "observed": "no" - }, - { - "id": "HP:0011300", - "label": "Broad fingertip", - "observed": "no" - }, - { - "id": "HP:0011304", - "label": "Broad thumb", - "observed": "no" - }, - { - "id": "HP:0002608", - "label": "Celiac disease", - "observed": "yes" - }, - { - "id": "HP:0002474", - "label": "Expressive language delay", - "observed": "yes" - }, - { - "id": "HP:0005769", - "label": "Fifth finger distal phalanx clinodactyly", - "observed": "no" - }, - { - "id": "HP:0000047", - "label": "Hypospadias", - "observed": "yes" - }, - { - "id": "HP:0006889", - "label": "Intellectual disability, borderline", - 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