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"##Local ID","Linking ID","Chromosome","Reference allele","Alternate allele","Variant type","Copy number","Reference copy number","Outer start","Inner start","Inner stop","Outer stop","Condition ID type","Condition ID value","Clinical significance","Date last evaluated","Mode of inheritance" | ||
"77d69d4d78a8e272365bdabe4f607327","77d69d4d78a8e272365bdabe4f607327","15","TAAGAATGTTGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA","T","Deletion","1","2","66633800","66633900","66634100","66634200","HPO","HP:0001298;HP:0001250","Likely pathogenic","2022-12-07","Somatic mutation" | ||
"77d69d4d78a8e272365bdabe4f607327","77d69d4d78a8e272365bdabe4f607327","15","TAAGAATGTTGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA","T","Deletion","1","2","66633800","66633900","66634100","66634200","HPO","HP:0001298;HP:0001250","Likely pathogenic","2022-12-07","Unknown mechanism" |
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import pkg_resources | ||
from importlib_resources import files | ||
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BASE_PATH = "preClinVar.resources" | ||
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###### submission schema json file ###### | ||
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subm_schema = "submission_schema.json" | ||
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###### Path to submission schema file ###### | ||
subm_schema_path = pkg_resources.resource_filename( | ||
"preClinVar", "/".join(["resources", subm_schema]) | ||
) | ||
subm_schema_path = str(files(BASE_PATH).joinpath(subm_schema)) |
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