Split (2)

train · 35.2k rows

question stringlengths 84 268	answer stringlengths 6 879	reference_sequence stringlengths 4.1k 4.1k	mutated_sequence stringlengths 4.1k 4.1k	cleaned_pathogenicity stringclasses 2 values	__index_level_0__ int64 67 343k
Regarding the variant found on chromosome 1 at position 17044848 in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): is it benign or pathogenic? If pathogenic, identify the disease(s).	pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']	CAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATGAGGTTTGTCTCCAGCCTTGTCTGGGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGAGCTGTGGCTGCAGCTGTCTGGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCAGGCCCGGCTAATTTTGTATTTT	CAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATGAGGTTTGTCTCCAGCCTTGTCTGGGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGGGAGCTGTGGCTGCAGCTGTCTGGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCAGGCCCGGCTAATTTTGTATT	pathogenic	4,303
Variant at chromosome position 17044872, chromosome 1, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, what condition(s) does it relate to?	pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma']	TTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATGAGGTTTGTCTCCAGCCTTGTCTGGGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGAGCTGTGGCTGCAGCTGTCTGGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCAGGCCCGGCTAATTTTGTATTTTTAGTAGAGATGTGGTTTGTCTATG	TTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATGAGGTTTGTCTCCAGCCTTGTCTGGGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGAGCTGTGGCTGCAGCTGTCTGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCAGGCCCGGCTAATTTTGTATTTTTAGTAGAGATGTGGTTTGTCTATGN	pathogenic	4,307
For chromosome 1, position 17053948, gene SDHB: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?	pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma', 'SDHB-related_disorder']	GGTGCGATTTCAGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTTC	GGTGCGATTTCAGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTT	pathogenic	4,322
Is chromosome 1, position 17053978, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?	pathogenic; ['Gastrointestinal_stromal_tumor', 'Paragangliomas_4', 'Pheochromocytoma']	CTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTTCCCCTTTCTGTCTGCTTGTTTTGGACATGTG	CTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTTCCCCTTTC	pathogenic	4,331
Determine whether the variant at chromosome 1, position 17053998, in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) is benign or pathogenic. If pathogenic, identify the relevant disease(s).	pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma']	TCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTTCCCCTTTCTGTCTGCTTGTTTTGGACATGTGAAGGGCGCCTTTCTATAGTC	TCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAAGGGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTTCCCCTTTCTGTCTGCTTGTTTTGGACATGTGAAGGGCGCCTTTCTATAGTCN	pathogenic	4,340
Chromosome 1, position 17053999, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4']	CCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTTCCCCTTTCTGTCTGCTTGTTTTGGACATGTGAAGGGCGCCTTTCTATAGTCT	CCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAAGTGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTTCCCCTTTCTGTCTGCTTGTTTTGGACATGTGAAGGGCGCCTTTCTATAGTCTN	pathogenic	4,343
Determine whether the variant at chromosome 1, position 19220813, in gene EMC1 is benign or pathogenic. If pathogenic, identify the relevant disease(s).	pathogenic; ['Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation%3B', 'Congenital_anomaly_of_kidney_and_urinary_tract']	CTGGATCAGTCCTCAAGCCTCAGCTAAGGATGGATCCTATTTCTTCCCAGTGCAAAACACCAAATGTACCTATAAGGTGGAGTCGGCAAGGAGAGTTCCCCTCTTACTTTGAAGCAAGAGATGGAAAAAGTCAGAAAGATTTCTAGATAAAATTGAGAAACACAAAAGGCAAAGTAAAGTCAATTTAAACAGGCCTCACAAAAATCAGCCGGAATTCTTATTAAAAAAAACAAAACAGAACATTCATGGATGGGCAAAGAAAGGAAACAATGCAGACGCCTTTGGACTTCAAGAGAAAGCCCATCAGGAATCTCTGAGAGTGTCAGCTGAGAGAGTTCTGTCTCTCTCCATGTAGGATCCTTTCTGCATCATGTATATCCCAAAAGGAGTTCTGCGTGAAGGTCATCCATCTTCCCTACAGTTCTTAGCTGAGCACTGACACACACACATACTCCACCAATCCACCAAACTGCAGCTGTAGCTGCTTATCTGACCCACACTCCCCTGGCTCTCCACTTTTAGGCACAGTCTTTGTTCTTTATCGCCAGGCCCGATTCAGGAGCTTCACCTGTGCCAGTCTCTTAGTGATCATGGTGGCAAAAACCAGGCCAAAGAGGACGCTGCTGATTAACACGTAGTCATAGTCATCCTTCAGAACGTCAAACTGCTTGGATGGGTAGACTCGAGTTTGGTAAATGTCCAAACCATAGGCCACAACCTGGAAGGCAGATGGAATAAGAATTAGGAAAGAAACAACCAATGATCCACCAAGGGTGAAATAGGGCAGCTGTGGGCTCTACTCACCAAACAAGTGGACTCCAGACCCGAGGGAGCTGTGTAGATACCTCGCATTCGAGAAACTGTCTGGTTATAGTTGATGAATCGCTCTGCGTGTATCTGTACATCTGGAGAATACGGGATTAAGTTCTCCTCTCTGCAAAACACCAGCCGGGACAGGCAGTCTGAGCACTGCTGTAAAGGGATCTCTTGGCTGCCCTTCCTGAGTCCTGGGAGGTTTCCAGGCTACATATCTAGCCTCAAATCTCCTAGGAGGTCTGCTTGCATTAGGTAGTTAAAAATTTAGCAGCTGAATGTTAGGAAGGACTACAAGAAAGGAAGCTCTCTGGAGAGTAAGACTGAGATCTAGATTCCTACTTTGTTCTAAATCTGAAAAGAAAGAACATACAGATGACTGGCACTTCACACCACAAGAGGAAAGCCGACCATTTTAAAGCCAACACACTGAACCACTAAGCTAATTCCTGCTCTCCACTCCAGGGTGCCTCTCAGTCCCCATTTCTCTGAAACCTGATTATCATCCTGTGTCTTTTCCTAGCTTTAACCTCCTCTCTCTCATATACTTCTCCAAAACACACTCCTCTCCATTCCTCATGCCCCTAGGCAAAGAAATTCAGGATGGAGGTAAGAAAACCCGACAAGATGGTGGTTGTTAATACAACAATACCAACAGTGAATAAGATATTGGCTTGCCCACATGGTCTGGCCCGAATTACCTCAGTGATCTCATTTCCTAGCGTTGCCCTCCGCAAACTCACCAGACATGATCTCAGGGGATTTGCATTGCCTGTTCCCTCTGCCTAGAAAGTTCTTCCTCAGGTATCTACACAGCTAGCTCCTTCACCTCCTTCAGGCCTTCACTCAAAATGCACCTTCTCAAAGGGGCTTTCCCAGGCCACCTCTCAAATTACACCCACGCACATCCCCATCCCCACTTCCTAGCTCATTCCTGTTTTACTCTGCTTAGCATTTGAGTACCTAACATAGTATATATTTTACTTGTTTATCTTATGTATTTATTGTCCATTTCCCAGCAGACTGTAAGCTCCATGAGGGCAGGTGACTTTTTCAGACTTGCCCCCTGCTACATCCCCAGCCCCTAGCACAGCATGAAGGCACACAGAGACCAAGAACCAAGCTTAATCAGTGAGGTTAAGTTATGTAAGGTCAGAGCCTTCAGCACTGCCCATGAGGGTCTCACCTGCTTTGTTCTGTTGGGATCTCGGGGCGGCGGGGATCCAGCAAAGCCTTAGGAAGGGAAAGAATTGCTCCAGAAGGTAGTCCAACTACACAGGAGGAAGTGAATGTTCACACCGATCCAGTGTCCAGCAAGGGCCAGTTACAAAAATGTCATTATTGCAGACATTTAAATAAGAATTTAAAACAAAAAAATGGGTCAATGAGGCTCCCTTACATAGCCAAAAATAATAATCCAATGATACGCATGGGTCTGAATGAAGGTTCTCACTTTTGAAGACACTGGTTTCTTAACTTTCTGAGACACCAGAAAATAAAGTTCTAGAATCAAGATATGGATAATGATGAAAGAGAAAAATGTAGAAGGCCACTTGGATTTCCTCATGCCTCTCCCCGGGGCCTCCCTCCCATACCTCCCCCAGCAGGAAGTCTCCTTCCCATTGAGCAAACGCAGCTGTTCATGCAGCTGCGGTACAGTGGCCAGGGAAGACTGGAGGACCAGGCATGATCAATCATAGCACCAGTTTCAGTAATGGTGATTAAAGCTGATAAACTGCCAACAGGGCTGGCTTCTTCATATTTAAGAATTCAATAGGCCAGTCGCGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCCAACATGGTGAAACTCCGTCTCTACCAAAAATTTAAAAATGAGCTGGGCACAGTGGCACGCACCTGTAGTCCCAGCTACTCAGCAGACTGAGGCAGGAGAATCACTTGAACCAGGGAGGCTGAAGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGCAACAGCAATGCCAAGTGCCCATCAGATCTGAGAGTCCCAAACATCTTCGGTAAAATCAACTAAACACAGGAACCTGTTAACCACTAAGTCCTAAGTCCTGGGCTTAGGTTACATAAGGATGAGATTTTAGGGCTGGCGCAGTGGCTCACACATATAATCCCAACACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCACGCCTGTTAACTACTTGGGAGGCTGAGGAGGAGGATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAATAGACCCTGCCAGTTTCTGCAAGCTGTCAGCACAGGCTAGCTATGTTAACAATGCTATCAGGAACTGACTTTTTGAGCTAGGTGAAAATGCCAAATAGAGAGGTGGTATATCAGAAATGAGGACTGAAGGCCAGGCAGCCAGGCACGATGGCTCACACCTGTAATCCCAACACTTCAGGAGGCCAAGGCAGGAGGATCACATGAGCCCAGGAGTCTAGATCAGCCTGGGCAACATGGCAAATCCCTGTCTCTACCAAAAAAAATTTTTTTAATTAGCCAGGTGAGCTCAGGAGGTTGAGGCTGCAGTGAGTCATGATCACACCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAACAAAAAAAAGATGAGAACTGAGAGAGAAGTGGTCACCTTCATAGGTGGCAAAGATGAACTAAGAAACTTTTTCCACCGATATATAGCCCTCCTCACCACCTTTCCCTTACAGGTGGTTCAACAAGGCTCTGCCAGCAATGTGTCCCTTGCTCTGTCCTTAAGTGTGGTTGCCCAAGGGAACCCAGCCATCCCAGAGGCTCCCCAGTCACTCACTCAGCAGGTGTCGGCTGGTGATGCCCCGTTCGGTGATGGTGGCCTCCATGGCACTGATGGAGGACGGGAAGATATAGGACTGCTGGAGGACCTGGGGCAGCTGGGGGCGGTCCAGGGAGCTGAAGGCGGTGGCGTTGTATTGCTCAGTGCCCTCATAGAGCTCCAGTACGGTAAACTCGTTGCGCCGAGCCTTGGTGTTCCAGTACTGGTACTGCAGGGATAGGAGGTGGCAGCTCA	CTGGATCAGTCCTCAAGCCTCAGCTAAGGATGGATCCTATTTCTTCCCAGTGCAAAACACCAAATGTACCTATAAGGTGGAGTCGGCAAGGAGAGTTCCCCTCTTACTTTGAAGCAAGAGATGGAAAAAGTCAGAAAGATTTCTAGATAAAATTGAGAAACACAAAAGGCAAAGTAAAGTCAATTTAAACAGGCCTCACAAAAATCAGCCGGAATTCTTATTAAAAAAAACAAAACAGAACATTCATGGATGGGCAAAGAAAGGAAACAATGCAGACGCCTTTGGACTTCAAGAGAAAGCCCATCAGGAATCTCTGAGAGTGTCAGCTGAGAGAGTTCTGTCTCTCTCCATGTAGGATCCTTTCTGCATCATGTATATCCCAAAAGGAGTTCTGCGTGAAGGTCATCCATCTTCCCTACAGTTCTTAGCTGAGCACTGACACACACACATACTCCACCAATCCACCAAACTGCAGCTGTAGCTGCTTATCTGACCCACACTCCCCTGGCTCTCCACTTTTAGGCACAGTCTTTGTTCTTTATCGCCAGGCCCGATTCAGGAGCTTCACCTGTGCCAGTCTCTTAGTGATCATGGTGGCAAAAACCAGGCCAAAGAGGACGCTGCTGATTAACACGTAGTCATAGTCATCCTTCAGAACGTCAAACTGCTTGGATGGGTAGACTCGAGTTTGGTAAATGTCCAAACCATAGGCCACAACCTGGAAGGCAGATGGAATAAGAATTAGGAAAGAAACAACCAATGATCCACCAAGGGTGAAATAGGGCAGCTGTGGGCTCTACTCACCAAACAAGTGGACTCCAGACCCGAGGGAGCTGTGTAGATACCTCGCATTCGAGAAACTGTCTGGTTATAGTTGATGAATCGCTCTGCGTGTATCTGTACATCTGGAGAATACGGGATTAAGTTCTCCTCTCTGCAAAACACCAGCCGGGACAGGCAGTCTGAGCACTGCTGTAAAGGGATCTCTTGGCTGCCCTTCCTGAGTCCTGGGAGGTTTCCAGGCTACATATCTAGCCTCAAATCTCCTAGGAGGTCTGCTTGCATTAGGTAGTTAAAAATTTAGCAGCTGAATGTTAGGAAGGACTACAAGAAAGGAAGCTCTCTGGAGAGTAAGACTGAGATCTAGATTCCTACTTTGTTCTAAATCTGAAAAGAAAGAACATACAGATGACTGGCACTTCACACCACAAGAGGAAAGCCGACCATTTTAAAGCCAACACACTGAACCACTAAGCTAATTCCTGCTCTCCACTCCAGGGTGCCTCTCAGTCCCCATTTCTCTGAAACCTGATTATCATCCTGTGTCTTTTCCTAGCTTTAACCTCCTCTCTCTCATATACTTCTCCAAAACACACTCCTCTCCATTCCTCATGCCCCTAGGCAAAGAAATTCAGGATGGAGGTAAGAAAACCCGACAAGATGGTGGTTGTTAATACAACAATACCAACAGTGAATAAGATATTGGCTTGCCCACATGGTCTGGCCCGAATTACCTCAGTGATCTCATTTCCTAGCGTTGCCCTCCGCAAACTCACCAGACATGATCTCAGGGGATTTGCATTGCCTGTTCCCTCTGCCTAGAAAGTTCTTCCTCAGGTATCTACACAGCTAGCTCCTTCACCTCCTTCAGGCCTTCACTCAAAATGCACCTTCTCAAAGGGGCTTTCCCAGGCCACCTCTCAAATTACACCCACGCACATCCCCATCCCCACTTCCTAGCTCATTCCTGTTTTACTCTGCTTAGCATTTGAGTACCTAACATAGTATATATTTTACTTGTTTATCTTATGTATTTATTGTCCATTTCCCAGCAGACTGTAAGCTCCATGAGGGCAGGTGACTTTTTCAGACTTGCCCCCTGCTACATCCCCAGCCCCTAGCACAGCATGAAGGCACACAGAGACCAAGAACCAAGCTTAATCAGTGAGGTTAAGTTATGTAAGGTCAGAGCCTTCAGCACTGCCCATGAGGGTCTCACCTGCTTTGTTCTGTTGGGATCTCGGGGCGGCGGGGATCCAGCAAAGCCTTAGGGAAAGAATTGCTCCAGAAGGTAGTCCAACTACACAGGAGGAAGTGAATGTTCACACCGATCCAGTGTCCAGCAAGGGCCAGTTACAAAAATGTCATTATTGCAGACATTTAAATAAGAATTTAAAACAAAAAAATGGGTCAATGAGGCTCCCTTACATAGCCAAAAATAATAATCCAATGATACGCATGGGTCTGAATGAAGGTTCTCACTTTTGAAGACACTGGTTTCTTAACTTTCTGAGACACCAGAAAATAAAGTTCTAGAATCAAGATATGGATAATGATGAAAGAGAAAAATGTAGAAGGCCACTTGGATTTCCTCATGCCTCTCCCCGGGGCCTCCCTCCCATACCTCCCCCAGCAGGAAGTCTCCTTCCCATTGAGCAAACGCAGCTGTTCATGCAGCTGCGGTACAGTGGCCAGGGAAGACTGGAGGACCAGGCATGATCAATCATAGCACCAGTTTCAGTAATGGTGATTAAAGCTGATAAACTGCCAACAGGGCTGGCTTCTTCATATTTAAGAATTCAATAGGCCAGTCGCGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCCAACATGGTGAAACTCCGTCTCTACCAAAAATTTAAAAATGAGCTGGGCACAGTGGCACGCACCTGTAGTCCCAGCTACTCAGCAGACTGAGGCAGGAGAATCACTTGAACCAGGGAGGCTGAAGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGCAACAGCAATGCCAAGTGCCCATCAGATCTGAGAGTCCCAAACATCTTCGGTAAAATCAACTAAACACAGGAACCTGTTAACCACTAAGTCCTAAGTCCTGGGCTTAGGTTACATAAGGATGAGATTTTAGGGCTGGCGCAGTGGCTCACACATATAATCCCAACACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCACGCCTGTTAACTACTTGGGAGGCTGAGGAGGAGGATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAATAGACCCTGCCAGTTTCTGCAAGCTGTCAGCACAGGCTAGCTATGTTAACAATGCTATCAGGAACTGACTTTTTGAGCTAGGTGAAAATGCCAAATAGAGAGGTGGTATATCAGAAATGAGGACTGAAGGCCAGGCAGCCAGGCACGATGGCTCACACCTGTAATCCCAACACTTCAGGAGGCCAAGGCAGGAGGATCACATGAGCCCAGGAGTCTAGATCAGCCTGGGCAACATGGCAAATCCCTGTCTCTACCAAAAAAAATTTTTTTAATTAGCCAGGTGAGCTCAGGAGGTTGAGGCTGCAGTGAGTCATGATCACACCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAACAAAAAAAAGATGAGAACTGAGAGAGAAGTGGTCACCTTCATAGGTGGCAAAGATGAACTAAGAAACTTTTTCCACCGATATATAGCCCTCCTCACCACCTTTCCCTTACAGGTGGTTCAACAAGGCTCTGCCAGCAATGTGTCCCTTGCTCTGTCCTTAAGTGTGGTTGCCCAAGGGAACCCAGCCATCCCAGAGGCTCCCCAGTCACTCACTCAGCAGGTGTCGGCTGGTGATGCCCCGTTCGGTGATGGTGGCCTCCATGGCACTGATGGAGGACGGGAAGATATAGGACTGCTGGAGGACCTGGGGCAGCTGGGGGCGGTCCAGGGAGCTGAAGGCGGTGGCGTTGTATTGCTCAGTGCCCTCATAGAGCTCCAGTACGGTAAACTCGTTGCGCCGAGCCTTGGTGTTCCAGTACTGGTACTGCAGGGATAGGAGGTGGCAGCTCANNNN	pathogenic	4,472
Benign or pathogenic: chromosome 1, position 20648990, gene PINK1 variant? Disease(s) if pathogenic?	pathogenic; ['Autosomal_recessive_early-onset_Parkinson_disease_6']	CCATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCGTGCCTCCGCCTCCTGAGTAGCTAGGATTACAGGCAGGTGCCACCACGCCTAGCTAATTTTTGATTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAAGCTCTACCTCCCAGGTTCACACCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACTTCGTGATCCACCTGCTTCGGCCTCCCAAAGCGCTGGGATTATTATTTTTAGTGGAGATGGGGTTTCACTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCACCTCAGCCTCCAAAATGTTGGGATTACAGGTATGAGCCACCACGCCCAGCTGGGAGTTGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCCCTGCCTATCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACGCCACTACACCTGGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGATCTGGAACTCCTGACTTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCAGGAACTGGCTTTTTAAAGGAATTTTGTGTGGACCCTTTTACAAATAACCAATTCTTTTTTTATTTTTTCTGAGACAGAGTCTCGCTGTGTTGCTCAGGCTGAAGTGATTCTCCTGTCTCAGCCTCCTTCACCTCCCAGGTTCAAGTAATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATACAGGCACACACCACCATGCCTGGCTAGTTTTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAATGTTGGCATTACAGGCCACCACACCCGGCAATAACTGATTCTTAATGCACCTGGTTCTTAGGTTTGGATTTGGGGTTTCAAATTCAAATCAAAGTCTCCTGGGGTATAAGGGCCCTTGGAGATCATTTGAACCAAGCTCTAGCTCCTTTGGTCTTGGGGACAGCTCCAATTACTAGAACATGATTTAAATTGAGCCACACAGTCCTTTGCCTGGGGATTTTGCAGCCTGTACTTACTGGAGGCATTTCCGTGTTCGCACAGCAGGCCCTTCTGATCAGCTCTCAGGCCTTGCTGACCTCCTGGGCCAACACTGAGCCATTAGCCCCTGTCAGCTATGTCTTGCTGGTGGCTTTAGTAGGGACATAGGAGGGCCTCTCAGAGGGAAGGAGGGGAGGAGAAATGGTCACTTTGCTTGCTCCTTCCCAGACGGCTGCCCCTGGCTGGTGATCGCAGATTTTGGCTGCTGCCTGGCTGATGAGAGCATCGGCCTGCAGTTGCCCTTCAGCAGCTGGTACGTGGATCGGGGCGGAAACGGCTGTCTGATGGCCCCAGAGGTGAGTCCCGAGTGTGTCATGCGCCATCGGCAGCCCTTCCCCCACATGTCCACTGAATGCAGGAGACTCGATGCCTTGTGATAACCCAACACCTCCATCTTTTCTGACCCATAATTTGGCACAAGTTCCTTCCCTGCCACTTTGCTTTCCTCCGGCGTTCCCTCATGTTCCAGGAGAATGCAAGTCCTGTCACATAAACCAGGTGGTCTAAGCAGACCCCTTCTGGGTCTGAGCCACAGCTCACTCAAGCTCTGGGTTCCTTGGGACAGAGTTCAGATTAGCCCATGGATCAGGTGATGTGCAGGACATGAAAAGGTTAGATGGGCGGGCAGCGTGATGTCTCACCCACTGCTTCTGAGCAGGTGTCCACGGCCCGTCCTGGCCCCAGGGCAGTGATTGACTACAGCAAGGCTGATGCCTGGGCAGTGGGAGCCATCGCCTATGAAATCTTCGGGCTTGTCAATCCCTTCTACGGCCAGGGCAAGGCCCACCTTGAAAGCCGCAGCTACCAAGAGGCTCAGCTACCTGCACTGCCCGAGTCAGTGCCTCCAGACGTGAGACAGTTGGTGAGGGCACTGCTCCAGCGAGAGGCCAGCAAGGTGAGGCTGTCCCCGGCTTCGAGGGGACGGTGTGGGTAGAAACCTCTGTTCTCGTTCCAGAGTGAAGGTCAGGTTTGGGCCAGAGCCACAGTGACAGATCCTCTGTGTTAGGAAGGTAAAGGCTAGTTACAAGAGAACAAAAAACAGATTTTAATGTAGGTAGGAGTAGGAGCACTAGCCACCACAGCATAGTCAGAATCCTAGCAGTTCAACTCCTGTGGCTTTTTTAGTTGCTGAAAAAGTTGTTCAGAGGCCAGACACGGTGGCTTACACCTATAATCACAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGGGACCAGGAGTTCCAGTCCAGCCTGGCCAACATGGTAAAACCCCGTCTGTACTAAAAATACAAAAATTAGCTGAGTGTCGTGGCACACGCCTGTAATTCCAGGTACTCGGGAGGCTGAAGCAGGAGAATCGTTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCTGGCCTAGGTGACAGTGCAAGTCTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAGGCTATTCAGAGAGAGAAAAGGAGGCATTTTTGAGAAATGTTTAATGGAGATGTAGCTCATGGAAGCAGCTGAGAACTGATCAGAGAGAGATGGAAAACATCTCCTGAGAGCAGATCTGGACATTGTGAAATTAATATAAAGGAATGCAAAGGCAGACCTATCCGAAGCCATAATTGGAGTGGCAGCTGGCTCAGGGGCAGGCTTAGTGCAAAGAGCTGAGCCATACCTGCACCCCAGCACTGTTCTGCCACTCCGTTAACTGCTCTCTGTACGTGGCCTGCTATCTTGGTGCGCAGTGAAGGTTAGAACAACAGCTGCAACCAGTTATGAAATGATAGAGGAGACTACTTACCTGGTTCAAGGGACCAGATAGCTGTGCACAAGAGGCACTAGGCTTTCCACCCAGGGGGAAAGGCTATTTCAACAATGCATGCTGCCCCATGCAGAGGTGTACACATGGAAAAGCTTGGAGCACGGGCAGGGGACAGGCAGTATTTGTCACCTGAGTGAAGGGCATCAGTAGGAGATAGGGTAGAGGAAGAATTGGGTTGGGACCAGAGAAGGGAAGACCCTCACTAACAAAGCAGGCTTTGGGTTGAGACTGTGTTAACAGATGTTCTAGCTACAGCTTCCCTTCCTGTTGCAGAGACCATCTGCCCGAGTAGCCGCAAATGTGCTTCATCTAAGCCTCTGGGGTGAACATATTCTAGCCCTGAAGAATCTGAAGTTAGACAAGATGGTTGGCTGGCTCCTCCAACAATCGGCCGCCACTTTGTTGGCCAACAGGCTCACAGAGAAGTGTTGTGTGGAAACAAAAATGAAGATGCTCTTTCTGGCTAACCTGGAGTGTGAAACGCTCTGCCAGGCAGCCCTCCTCCTCTGCTCATGGAGGGCAGCCCTGTGATGTCCCTGCATGGAGCTGGTGAATTACTAAAAGAACATGGCATCCTCTGTGTCGTGATGGTCTGTGAATGGTGAGGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCCAAGCTGGTCTAGTAGATGAGGCTGGACTGAGGAGGGGTAGGCCTGCATCCACAGAGAGGATCCAGGCCAAGGCACTGGCTGTCAGTGGCAGAGTTTGGCTGTGACCTTTGCCCCTAACACGAGGAACTCGTTTGA	CCATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCGTGCCTCCGCCTCCTGAGTAGCTAGGATTACAGGCAGGTGCCACCACGCCTAGCTAATTTTTGATTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAAGCTCTACCTCCCAGGTTCACACCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACTTCGTGATCCACCTGCTTCGGCCTCCCAAAGCGCTGGGATTATTATTTTTAGTGGAGATGGGGTTTCACTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCACCTCAGCCTCCAAAATGTTGGGATTACAGGTATGAGCCACCACGCCCAGCTGGGAGTTGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCCCTGCCTATCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACGCCACTACACCTGGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGATCTGGAACTCCTGACTTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCAGGAACTGGCTTTTTAAAGGAATTTTGTGTGGACCCTTTTACAAATAACCAATTCTTTTTTTATTTTTTCTGAGACAGAGTCTCGCTGTGTTGCTCAGGCTGAAGTGATTCTCCTGTCTCAGCCTCCTTCACCTCCCAGGTTCAAGTAATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATACAGGCACACACCACCATGCCTGGCTAGTTTTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAATGTTGGCATTACAGGCCACCACACCCGGCAATAACTGATTCTTAATGCACCTGGTTCTTAGGTTTGGATTTGGGGTTTCAAATTCAAATCAAAGTCTCCTGGGGTATAAGGGCCCTTGGAGATCATTTGAACCAAGCTCTAGCTCCTTTGGTCTTGGGGACAGCTCCAATTACTAGAACATGATTTAAATTGAGCCACACAGTCCTTTGCCTGGGGATTTTGCAGCCTGTACTTACTGGAGGCATTTCCGTGTTCGCACAGCAGGCCCTTCTGATCAGCTCTCAGGCCTTGCTGACCTCCTGGGCCAACACTGAGCCATTAGCCCCTGTCAGCTATGTCTTGCTGGTGGCTTTAGTAGGGACATAGGAGGGCCTCTCAGAGGGAAGGAGGGGAGGAGAAATGGTCACTTTGCTTGCTCCTTCCCAGACGGCTGCCCCTGGCTGGTGATCGCAGATTTTGGCTGCTGCCTGGCTGATGAGAGCATCGGCCTGCAGTTGCCCTTCAGCAGCTGGTACGTGGATCGGGGCGGAAACGGCTGTCTGATGGCCCCAGAGGTGAGTCCCGAGTGTGTCATGCGCCATCGGCAGCCCTTCCCCCACATGTCCACTGAATGCAGGAGACTCGATGCCTTGTGATAACCCAACACCTCCATCTTTTCTGACCCATAATTTGGCACAAGTTCCTTCCCTGCCACTTTGCTTTCCTCCGGCGTTCCCTCATGTTCCAGGAGAATGCAAGTCCTGTCACATAAACCAGGTGGTCTAAGCAGACCCCTTCTGGGTCTGAGCCACAGCTCACTCAAGCTCTGGGTTCCTTGGGACAGAGTTCAGATTAGCCCATGGATCAGGTGATGTGCAGGACATGAAAAGGTTAGATGGGCGGGCAGCGTGATGTCTCACCCACTGCTTCTGAGCCCCAGGGCAGTGATTGACTACAGCAAGGCTGATGCCTGGGCAGTGGGAGCCATCGCCTATGAAATCTTCGGGCTTGTCAATCCCTTCTACGGCCAGGGCAAGGCCCACCTTGAAAGCCGCAGCTACCAAGAGGCTCAGCTACCTGCACTGCCCGAGTCAGTGCCTCCAGACGTGAGACAGTTGGTGAGGGCACTGCTCCAGCGAGAGGCCAGCAAGGTGAGGCTGTCCCCGGCTTCGAGGGGACGGTGTGGGTAGAAACCTCTGTTCTCGTTCCAGAGTGAAGGTCAGGTTTGGGCCAGAGCCACAGTGACAGATCCTCTGTGTTAGGAAGGTAAAGGCTAGTTACAAGAGAACAAAAAACAGATTTTAATGTAGGTAGGAGTAGGAGCACTAGCCACCACAGCATAGTCAGAATCCTAGCAGTTCAACTCCTGTGGCTTTTTTAGTTGCTGAAAAAGTTGTTCAGAGGCCAGACACGGTGGCTTACACCTATAATCACAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGGGACCAGGAGTTCCAGTCCAGCCTGGCCAACATGGTAAAACCCCGTCTGTACTAAAAATACAAAAATTAGCTGAGTGTCGTGGCACACGCCTGTAATTCCAGGTACTCGGGAGGCTGAAGCAGGAGAATCGTTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCTGGCCTAGGTGACAGTGCAAGTCTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAGGCTATTCAGAGAGAGAAAAGGAGGCATTTTTGAGAAATGTTTAATGGAGATGTAGCTCATGGAAGCAGCTGAGAACTGATCAGAGAGAGATGGAAAACATCTCCTGAGAGCAGATCTGGACATTGTGAAATTAATATAAAGGAATGCAAAGGCAGACCTATCCGAAGCCATAATTGGAGTGGCAGCTGGCTCAGGGGCAGGCTTAGTGCAAAGAGCTGAGCCATACCTGCACCCCAGCACTGTTCTGCCACTCCGTTAACTGCTCTCTGTACGTGGCCTGCTATCTTGGTGCGCAGTGAAGGTTAGAACAACAGCTGCAACCAGTTATGAAATGATAGAGGAGACTACTTACCTGGTTCAAGGGACCAGATAGCTGTGCACAAGAGGCACTAGGCTTTCCACCCAGGGGGAAAGGCTATTTCAACAATGCATGCTGCCCCATGCAGAGGTGTACACATGGAAAAGCTTGGAGCACGGGCAGGGGACAGGCAGTATTTGTCACCTGAGTGAAGGGCATCAGTAGGAGATAGGGTAGAGGAAGAATTGGGTTGGGACCAGAGAAGGGAAGACCCTCACTAACAAAGCAGGCTTTGGGTTGAGACTGTGTTAACAGATGTTCTAGCTACAGCTTCCCTTCCTGTTGCAGAGACCATCTGCCCGAGTAGCCGCAAATGTGCTTCATCTAAGCCTCTGGGGTGAACATATTCTAGCCCTGAAGAATCTGAAGTTAGACAAGATGGTTGGCTGGCTCCTCCAACAATCGGCCGCCACTTTGTTGGCCAACAGGCTCACAGAGAAGTGTTGTGTGGAAACAAAAATGAAGATGCTCTTTCTGGCTAACCTGGAGTGTGAAACGCTCTGCCAGGCAGCCCTCCTCCTCTGCTCATGGAGGGCAGCCCTGTGATGTCCCTGCATGGAGCTGGTGAATTACTAAAAGAACATGGCATCCTCTGTGTCGTGATGGTCTGTGAATGGTGAGGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCCAAGCTGGTCTAGTAGATGAGGCTGGACTGAGGAGGGGTAGGCCTGCATCCACAGAGAGGATCCAGGCCAAGGCACTGGCTGTCAGTGGCAGAGTTTGGCTGTGACCTTTGCCCCTAACACGAGGAACTCGTTTGANNNNNNNNNNNNNNNNNNNNNNN	pathogenic	4,565
Determine if the mutation at chromosome 1, position 20652604 in gene DDOST (dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit) is benign or pathogenic. If pathogenic, what disease(s) is associated?	benign	CACTTTGTTGGCCAACAGGCTCACAGAGAAGTGTTGTGTGGAAACAAAAATGAAGATGCTCTTTCTGGCTAACCTGGAGTGTGAAACGCTCTGCCAGGCAGCCCTCCTCCTCTGCTCATGGAGGGCAGCCCTGTGATGTCCCTGCATGGAGCTGGTGAATTACTAAAAGAACATGGCATCCTCTGTGTCGTGATGGTCTGTGAATGGTGAGGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCCAAGCTGGTCTAGTAGATGAGGCTGGACTGAGGAGGGGTAGGCCTGCATCCACAGAGAGGATCCAGGCCAAGGCACTGGCTGTCAGTGGCAGAGTTTGGCTGTGACCTTTGCCCCTAACACGAGGAACTCGTTTGAAGGGGGCAGCGTAGCATGTCTGATTTGCCACCTGGATGAAGGCAGACATCAACATGGGTCAGCACGTTCAGTTACGGGAGTGGGAAATTACATGAGGCCTGGGCCTCTGCGTTCCCAAGCTGTGCGTTCTGGACCAGCTACTGAATTATTAATCTCACTTAGCGAAAGTGACGGATGAGCAGTAAGTAAGTAAGTGTGGGGATTTAAACTTGAGGGTTTCCCTCCTGACTAGCCTCTCTTACAGGAATTGTGAAATATTAAATGCAAATTTACAACTGCAGATGACGTATGTGCCTTGAACTGAATATTTGGCTTTAAGAATGATTCTTATACTCTGAAGGTGAGAATATTTTGTGGGCAGGTATCAACATTGGGGAAGAGATTTCATGTCTAACTAACTAACTTTATACATGATTTTTAGGAAGCTATTGCCTAAATCAGCGTCAACATGCAGTAAAGGTTGTCTTCAACTGAGCTGTTCTAGTTTTCTCTTCCCCAGCACTGTCATCTAGATTTTCCATTTCAGTGATTCCCACCCCTCGGTCTACTAGCAACAACAACTTTCTTGTATCCTTTGAGGAGACGTTAGGGAGAACCATCATTTCACAGTTAAAAGAAAGACAGTCCAGTCCTAGGCAAAATTTCATGAAGCCACTTAGGATTTTGTATCCAGTCAGTCATCACCCACAGCAACCCCCACCCACAGCCATTAGCAAACCAGGACCGGGGCCAGGTGAAGTTTGAGGGCAACATCTCGCTTTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATATTTGAGACAGAGTCTTAACACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCTTGGATTCATGCCTTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCAGCTAATTTTTTGTACTTTTAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCACGTCCCTATTTTAGAAATGAGAGGAGTGACTGCACATAGGAAAAATGCCACTTTTAGCAATTCAAAGTGGAAAAACTTCTTTTATATAAAAATTATCCCAACTCCCACCCCTTGGCTCTCAGTGTTGCATCTCCCACAGAGGTAAAGTTGTGCCATTTTCCCACGGCTTTAAACAAAGCAAAACAAAACCACCAATCCTAATAACCCCCCTCCTTGCCCCGTCTCCACGCTGTGCGGAGAGGGCTCTAGCCCCTCAGTCGGACTTCTCCTTCTCCTTCATGTGCAAGAAGACGATGCTGAAGATGAAGAGCCCCAGCATCATGGAGAAGGCGCTGGCGTAGTAGGGGTAGGCCGAGGGGATGAAGCGCTCATACTGCGTGTGCTGGAGTGGCCGCACGGATACCTGCAGGAGGACAGAGGTGGCAGGACCTGGCCACTGCAGAGCCCAGGCAGGGCACATGCTAGCTGAAAACAGAAGCTGTCACCTGTGCTTACCTGAGTGGAAGAGTACAGGTGTGTGTAGCCTAGCCGGTTGTAATCCACTTTAAACTGGAATACACCATACACGTCGGGCAACTTGAACTGAACACTGTATTTGCCACCTGCGGAAGAACCAACAAGAATAACCGGGAGGGGTTTCCCAGAGCTTTTCCTGGTTGGGCCTCGAGAGCAAGTGAGGCCTGGGGCCGTTTCTGGCAGCATCCTCGTGCAGGAACTACACTCACCTTTCTTCTTCAGGAAGGTCCTCACAAAAGGATCAATGCGGACAAACTCCAGCTGAATGTCATCGCCATCAAAGGGGACCCATTTGCCATTTGAGAGCTGCTGGATCACGATGCTATACTCCTGAGATAAAAGGCCAGGTTAGCCAGGGCTGGCCATGACTGGAGGCCTTCCACCACCTGCAGGCAGAGCTGCACTTAATTCCCACCCGACGAACATGGCAGGAATGCCCAGGAGTTCAGAAGACCTGCAGATGCCCCTGCCACCCGGCCCTGATCAGTAACCAGTCTCTCTCCTCAGCAAGGTTAATCCCCCAACACAGCATCTCTGCCTCTTCTCTGAAGGCCTAGATTCCTTCACACAGTATTCATGGCCCATCAAAGTCTGGACCCAAACCACCCTCCTGCCCCGACATGTGCCAGGCACTTTCAAGTATTCATGCTTCCATATTCGCTTTCTCTTGCCTAACAAATTCAACCTAATGACCTATTTCTCTTATTAAGTCCAACTTCCTGGGCAGAGTTAATCAGTGAAGCCCCTCCCACTGCTGCCCCCCATAGCAAATACACACACCTCTTCAAAAGAAGTGCTCCTATTAGGACATCAGTTTTCACGCCAGGCTCTGCATCTCACCTGGCATGCTTAGGTGTAGGGATTAACTTATTCATCTTTATTTATGCCCTTTAGGCCAGCAAAGAAGTGTTCAATAAGTGCTTCTGAGCTGAGCTCAGTCAGCTTGGCAAACCCTTTGGGCCCTCCCACCCCAAACATCTCTTACCACTAGGTCAGTGACAGTGTAGGCATTGGGTGGGGCTGTCTCGCCCACCCGATGATGGGACACAGGCCCCACACGGAGGACACCCTCCTCCTTGAACACCCAGCGGGAGAGGGCCACAGCTAGTTCATAGTTGCCTGTCTGGGAATACCTGCAGGAGGGAAACAGGAGCAGCTTGGGCACCAGAGCCACCTTTCCAGTGGTGCCTGATGGGCAGGACCACTCATGTCCACCATGACAGTACCCTAGCGAAGTTCTGCCTGTAGGCCTTGGGCACCTAGGGACTCATGGTTAAAGGGAACGCAGGAAACAAACGAAAAGATATGGCTGGTTGCTTGTCATCTGCACAACAAATACACAAATTTCTAAAAGGAACGGTGGAGGTTAGGGATCTCTAGATAAGTCACTACTACCTTAAAAAATTGGAAGTGCCAATACCAGCAATATAGCAATAAAGCCCTGAAATAATCTGACAGCACCTGAAACACTCAGCCTCTGACACTTTTAGCTAAAAGCCTCCTTCTTCCCCTTCTGAGTCCTCCCCATATACACACACTGCACCACCCGGATCCCCGGCCCCTAAGCCTCCTGGCAGCTACCTCTGGGAGCCGGGCGCCGCCTTCTGCACTGCTGAGTTGAAGAAGGAGTCGCTGAAGAAGTCGAGGGAGCCGCTGAAGATGACGCGGGCATTGTTCCTGGCCTGGAGCCCAGCAATGAGGAGGGTGTTCTTCCCCACCGCATGTGGATACTGGGAACAAAACGAGGCTGTGACCCAAGCAGTTCCAAGTAAGGGAAAAGCTGCCACGCCTCCCGAACAAGAGGACAGCAGGCCAGACCAAAACGACCCTGGCCCTACCTGAAGGGGGAGCCTGAGACCACACCGCTTCTGCCCATGCCCCACCCCACCAACTAGTCATTTCCTTCGCCTCAGCCAAATGTGCTGTTCTGCTTCATTTTTATTTCGAAGCCTCAAGGTTGTGAAGCCCTTACCTGGGTGATAGGCTTGTCCGGGAAGAAGGAGTAAGAGG	CACTTTGTTGGCCAACAGGCTCACAGAGAAGTGTTGTGTGGAAACAAAAATGAAGATGCTCTTTCTGGCTAACCTGGAGTGTGAAACGCTCTGCCAGGCAGCCCTCCTCCTCTGCTCATGGAGGGCAGCCCTGTGATGTCCCTGCATGGAGCTGGTGAATTACTAAAAGAACATGGCATCCTCTGTGTCGTGATGGTCTGTGAATGGTGAGGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCCAAGCTGGTCTAGTAGATGAGGCTGGACTGAGGAGGGGTAGGCCTGCATCCACAGAGAGGATCCAGGCCAAGGCACTGGCTGTCAGTGGCAGAGTTTGGCTGTGACCTTTGCCCCTAACACGAGGAACTCGTTTGAAGGGGGCAGCGTAGCATGTCTGATTTGCCACCTGGATGAAGGCAGACATCAACATGGGTCAGCACGTTCAGTTACGGGAGTGGGAAATTACATGAGGCCTGGGCCTCTGCGTTCCCAAGCTGTGCGTTCTGGACCAGCTACTGAATTATTAATCTCACTTAGCGAAAGTGACGGATGAGCAGTAAGTAAGTAAGTGTGGGGATTTAAACTTGAGGGTTTCCCTCCTGACTAGCCTCTCTTACAGGAATTGTGAAATATTAAATGCAAATTTACAACTGCAGATGACGTATGTGCCTTGAACTGAATATTTGGCTTTAAGAATGATTCTTATACTCTGAAGGTGAGAATATTTTGTGGGCAGGTATCAACATTGGGGAAGAGATTTCATGTCTAACTAACTAACTTTATACATGATTTTTAGGAAGCTATTGCCTAAATCAGCGTCAACATGCAGTAAAGGTTGTCTTCAACTGAGCTGTTCTAGTTTTCTCTTCCCCAGCACTGTCATCTAGATTTTCCATTTCAGTGATTCCCACCCCTCGGTCTACTAGCAACAACAACTTTCTTGTATCCTTTGAGGAGACGTTAGGGAGAACCATCATTTCACAGTTAAAAGAAAGACAGTCCAGTCCTAGGCAAAATTTCATGAAGCCACTTAGGATTTTGTATCCAGTCAGTCATCACCCACAGCAACCCCCACCCACAGCCATTAGCAAACCAGGACCGGGGCCAGGTGAAGTTTGAGGGCAACATCTCGCTTTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATATTTGAGACAGAGTCTTAACACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCTTGGATTCATGCCTTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCAGCTAATTTTTTGTACTTTTAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCACGTCCCTATTTTAGAAATGAGAGGAGTGACTGCACATAGGAAAAATGCCACTTTTAGCAATTCAAAGTGGAAAAACTTCTTTTATATAAAAATTATCCCAACTCCCACCCCTTGGCTCTCAGTGTTGCATCTCCCACAGAGGTAAAGTTGTGCCATTTTCCCACGGCTTTAAACAAAGCAAAACAAAACCACCAATCCTAATAACCCCCCTCCTTGCCCCGTCTCCACGCTGTGCGGAGAGGGCTCTAGCCCCTCAGTCGGACTTCTCCTTCTCCTTCATGTGCAAGAAGACGATGCTGAAGATGAAGAGCCCCAGCATCATGGAGAAGGCGCTGGCGTAGTAGGGGTAGGCCGAGGGGATGAAGCGCTCATACTGCGTGTGCTGGAGTGGCCGCACGGATACCTGCAGGAGGACAGAGGTGGCAGGACCTGGCCACTGCAGAGCCCAGGCAGGGCACATGCTAGCTGAAAACAGAAGCTTGTCACCTGTGCTTACCTGAGTGGAAGAGTACAGGTGTGTGTAGCCTAGCCGGTTGTAATCCACTTTAAACTGGAATACACCATACACGTCGGGCAACTTGAACTGAACACTGTATTTGCCACCTGCGGAAGAACCAACAAGAATAACCGGGAGGGGTTTCCCAGAGCTTTTCCTGGTTGGGCCTCGAGAGCAAGTGAGGCCTGGGGCCGTTTCTGGCAGCATCCTCGTGCAGGAACTACACTCACCTTTCTTCTTCAGGAAGGTCCTCACAAAAGGATCAATGCGGACAAACTCCAGCTGAATGTCATCGCCATCAAAGGGGACCCATTTGCCATTTGAGAGCTGCTGGATCACGATGCTATACTCCTGAGATAAAAGGCCAGGTTAGCCAGGGCTGGCCATGACTGGAGGCCTTCCACCACCTGCAGGCAGAGCTGCACTTAATTCCCACCCGACGAACATGGCAGGAATGCCCAGGAGTTCAGAAGACCTGCAGATGCCCCTGCCACCCGGCCCTGATCAGTAACCAGTCTCTCTCCTCAGCAAGGTTAATCCCCCAACACAGCATCTCTGCCTCTTCTCTGAAGGCCTAGATTCCTTCACACAGTATTCATGGCCCATCAAAGTCTGGACCCAAACCACCCTCCTGCCCCGACATGTGCCAGGCACTTTCAAGTATTCATGCTTCCATATTCGCTTTCTCTTGCCTAACAAATTCAACCTAATGACCTATTTCTCTTATTAAGTCCAACTTCCTGGGCAGAGTTAATCAGTGAAGCCCCTCCCACTGCTGCCCCCCATAGCAAATACACACACCTCTTCAAAAGAAGTGCTCCTATTAGGACATCAGTTTTCACGCCAGGCTCTGCATCTCACCTGGCATGCTTAGGTGTAGGGATTAACTTATTCATCTTTATTTATGCCCTTTAGGCCAGCAAAGAAGTGTTCAATAAGTGCTTCTGAGCTGAGCTCAGTCAGCTTGGCAAACCCTTTGGGCCCTCCCACCCCAAACATCTCTTACCACTAGGTCAGTGACAGTGTAGGCATTGGGTGGGGCTGTCTCGCCCACCCGATGATGGGACACAGGCCCCACACGGAGGACACCCTCCTCCTTGAACACCCAGCGGGAGAGGGCCACAGCTAGTTCATAGTTGCCTGTCTGGGAATACCTGCAGGAGGGAAACAGGAGCAGCTTGGGCACCAGAGCCACCTTTCCAGTGGTGCCTGATGGGCAGGACCACTCATGTCCACCATGACAGTACCCTAGCGAAGTTCTGCCTGTAGGCCTTGGGCACCTAGGGACTCATGGTTAAAGGGAACGCAGGAAACAAACGAAAAGATATGGCTGGTTGCTTGTCATCTGCACAACAAATACACAAATTTCTAAAAGGAACGGTGGAGGTTAGGGATCTCTAGATAAGTCACTACTACCTTAAAAAATTGGAAGTGCCAATACCAGCAATATAGCAATAAAGCCCTGAAATAATCTGACAGCACCTGAAACACTCAGCCTCTGACACTTTTAGCTAAAAGCCTCCTTCTTCCCCTTCTGAGTCCTCCCCATATACACACACTGCACCACCCGGATCCCCGGCCCCTAAGCCTCCTGGCAGCTACCTCTGGGAGCCGGGCGCCGCCTTCTGCACTGCTGAGTTGAAGAAGGAGTCGCTGAAGAAGTCGAGGGAGCCGCTGAAGATGACGCGGGCATTGTTCCTGGCCTGGAGCCCAGCAATGAGGAGGGTGTTCTTCCCCACCGCATGTGGATACTGGGAACAAAACGAGGCTGTGACCCAAGCAGTTCCAAGTAAGGGAAAAGCTGCCACGCCTCCCGAACAAGAGGACAGCAGGCCAGACCAAAACGACCCTGGCCCTACCTGAAGGGGGAGCCTGAGACCACACCGCTTCTGCCCATGCCCCACCCCACCAACTAGTCATTTCCTTCGCCTCAGCCAAATGTGCTGTTCTGCTTCATTTTTATTTCGAAGCCTCAAGGTTGTGAAGCCCTTACCTGGGTGATAGGCTTGTCCGGGAAGAAGGAGTAAGAG	benign	4,595
Is chromosome 1, position 20652814, gene DDOST (dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?	benign	GGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCCAAGCTGGTCTAGTAGATGAGGCTGGACTGAGGAGGGGTAGGCCTGCATCCACAGAGAGGATCCAGGCCAAGGCACTGGCTGTCAGTGGCAGAGTTTGGCTGTGACCTTTGCCCCTAACACGAGGAACTCGTTTGAAGGGGGCAGCGTAGCATGTCTGATTTGCCACCTGGATGAAGGCAGACATCAACATGGGTCAGCACGTTCAGTTACGGGAGTGGGAAATTACATGAGGCCTGGGCCTCTGCGTTCCCAAGCTGTGCGTTCTGGACCAGCTACTGAATTATTAATCTCACTTAGCGAAAGTGACGGATGAGCAGTAAGTAAGTAAGTGTGGGGATTTAAACTTGAGGGTTTCCCTCCTGACTAGCCTCTCTTACAGGAATTGTGAAATATTAAATGCAAATTTACAACTGCAGATGACGTATGTGCCTTGAACTGAATATTTGGCTTTAAGAATGATTCTTATACTCTGAAGGTGAGAATATTTTGTGGGCAGGTATCAACATTGGGGAAGAGATTTCATGTCTAACTAACTAACTTTATACATGATTTTTAGGAAGCTATTGCCTAAATCAGCGTCAACATGCAGTAAAGGTTGTCTTCAACTGAGCTGTTCTAGTTTTCTCTTCCCCAGCACTGTCATCTAGATTTTCCATTTCAGTGATTCCCACCCCTCGGTCTACTAGCAACAACAACTTTCTTGTATCCTTTGAGGAGACGTTAGGGAGAACCATCATTTCACAGTTAAAAGAAAGACAGTCCAGTCCTAGGCAAAATTTCATGAAGCCACTTAGGATTTTGTATCCAGTCAGTCATCACCCACAGCAACCCCCACCCACAGCCATTAGCAAACCAGGACCGGGGCCAGGTGAAGTTTGAGGGCAACATCTCGCTTTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATATTTGAGACAGAGTCTTAACACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCTTGGATTCATGCCTTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCAGCTAATTTTTTGTACTTTTAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCACGTCCCTATTTTAGAAATGAGAGGAGTGACTGCACATAGGAAAAATGCCACTTTTAGCAATTCAAAGTGGAAAAACTTCTTTTATATAAAAATTATCCCAACTCCCACCCCTTGGCTCTCAGTGTTGCATCTCCCACAGAGGTAAAGTTGTGCCATTTTCCCACGGCTTTAAACAAAGCAAAACAAAACCACCAATCCTAATAACCCCCCTCCTTGCCCCGTCTCCACGCTGTGCGGAGAGGGCTCTAGCCCCTCAGTCGGACTTCTCCTTCTCCTTCATGTGCAAGAAGACGATGCTGAAGATGAAGAGCCCCAGCATCATGGAGAAGGCGCTGGCGTAGTAGGGGTAGGCCGAGGGGATGAAGCGCTCATACTGCGTGTGCTGGAGTGGCCGCACGGATACCTGCAGGAGGACAGAGGTGGCAGGACCTGGCCACTGCAGAGCCCAGGCAGGGCACATGCTAGCTGAAAACAGAAGCTGTCACCTGTGCTTACCTGAGTGGAAGAGTACAGGTGTGTGTAGCCTAGCCGGTTGTAATCCACTTTAAACTGGAATACACCATACACGTCGGGCAACTTGAACTGAACACTGTATTTGCCACCTGCGGAAGAACCAACAAGAATAACCGGGAGGGGTTTCCCAGAGCTTTTCCTGGTTGGGCCTCGAGAGCAAGTGAGGCCTGGGGCCGTTTCTGGCAGCATCCTCGTGCAGGAACTACACTCACCTTTCTTCTTCAGGAAGGTCCTCACAAAAGGATCAATGCGGACAAACTCCAGCTGAATGTCATCGCCATCAAAGGGGACCCATTTGCCATTTGAGAGCTGCTGGATCACGATGCTATACTCCTGAGATAAAAGGCCAGGTTAGCCAGGGCTGGCCATGACTGGAGGCCTTCCACCACCTGCAGGCAGAGCTGCACTTAATTCCCACCCGACGAACATGGCAGGAATGCCCAGGAGTTCAGAAGACCTGCAGATGCCCCTGCCACCCGGCCCTGATCAGTAACCAGTCTCTCTCCTCAGCAAGGTTAATCCCCCAACACAGCATCTCTGCCTCTTCTCTGAAGGCCTAGATTCCTTCACACAGTATTCATGGCCCATCAAAGTCTGGACCCAAACCACCCTCCTGCCCCGACATGTGCCAGGCACTTTCAAGTATTCATGCTTCCATATTCGCTTTCTCTTGCCTAACAAATTCAACCTAATGACCTATTTCTCTTATTAAGTCCAACTTCCTGGGCAGAGTTAATCAGTGAAGCCCCTCCCACTGCTGCCCCCCATAGCAAATACACACACCTCTTCAAAAGAAGTGCTCCTATTAGGACATCAGTTTTCACGCCAGGCTCTGCATCTCACCTGGCATGCTTAGGTGTAGGGATTAACTTATTCATCTTTATTTATGCCCTTTAGGCCAGCAAAGAAGTGTTCAATAAGTGCTTCTGAGCTGAGCTCAGTCAGCTTGGCAAACCCTTTGGGCCCTCCCACCCCAAACATCTCTTACCACTAGGTCAGTGACAGTGTAGGCATTGGGTGGGGCTGTCTCGCCCACCCGATGATGGGACACAGGCCCCACACGGAGGACACCCTCCTCCTTGAACACCCAGCGGGAGAGGGCCACAGCTAGTTCATAGTTGCCTGTCTGGGAATACCTGCAGGAGGGAAACAGGAGCAGCTTGGGCACCAGAGCCACCTTTCCAGTGGTGCCTGATGGGCAGGACCACTCATGTCCACCATGACAGTACCCTAGCGAAGTTCTGCCTGTAGGCCTTGGGCACCTAGGGACTCATGGTTAAAGGGAACGCAGGAAACAAACGAAAAGATATGGCTGGTTGCTTGTCATCTGCACAACAAATACACAAATTTCTAAAAGGAACGGTGGAGGTTAGGGATCTCTAGATAAGTCACTACTACCTTAAAAAATTGGAAGTGCCAATACCAGCAATATAGCAATAAAGCCCTGAAATAATCTGACAGCACCTGAAACACTCAGCCTCTGACACTTTTAGCTAAAAGCCTCCTTCTTCCCCTTCTGAGTCCTCCCCATATACACACACTGCACCACCCGGATCCCCGGCCCCTAAGCCTCCTGGCAGCTACCTCTGGGAGCCGGGCGCCGCCTTCTGCACTGCTGAGTTGAAGAAGGAGTCGCTGAAGAAGTCGAGGGAGCCGCTGAAGATGACGCGGGCATTGTTCCTGGCCTGGAGCCCAGCAATGAGGAGGGTGTTCTTCCCCACCGCATGTGGATACTGGGAACAAAACGAGGCTGTGACCCAAGCAGTTCCAAGTAAGGGAAAAGCTGCCACGCCTCCCGAACAAGAGGACAGCAGGCCAGACCAAAACGACCCTGGCCCTACCTGAAGGGGGAGCCTGAGACCACACCGCTTCTGCCCATGCCCCACCCCACCAACTAGTCATTTCCTTCGCCTCAGCCAAATGTGCTGTTCTGCTTCATTTTTATTTCGAAGCCTCAAGGTTGTGAAGCCCTTACCTGGGTGATAGGCTTGTCCGGGAAGAAGGAGTAAGAGGTGGAAGAGCCCGTCAGGATGTCCAGCACCAAAGGGTTATCAGGATCGGCCACCATCCTGCAGCAGGACGAGAGCAGCCCAGCACTGGCCCCAGGAACTGAGCCCAAGGACATGGGATCCCCGAGAGCCAGTTCTTCCCAGGAATGAATCCTTTTTTCTTAATTGCCAACCACTTAGCTCTTGTCTTGATATAACAATGGAGTCTGACTTG	GGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCCAAGCTGGTCTAGTAGATGAGGCTGGACTGAGGAGGGGTAGGCCTGCATCCACAGAGAGGATCCAGGCCAAGGCACTGGCTGTCAGTGGCAGAGTTTGGCTGTGACCTTTGCCCCTAACACGAGGAACTCGTTTGAAGGGGGCAGCGTAGCATGTCTGATTTGCCACCTGGATGAAGGCAGACATCAACATGGGTCAGCACGTTCAGTTACGGGAGTGGGAAATTACATGAGGCCTGGGCCTCTGCGTTCCCAAGCTGTGCGTTCTGGACCAGCTACTGAATTATTAATCTCACTTAGCGAAAGTGACGGATGAGCAGTAAGTAAGTAAGTGTGGGGATTTAAACTTGAGGGTTTCCCTCCTGACTAGCCTCTCTTACAGGAATTGTGAAATATTAAATGCAAATTTACAACTGCAGATGACGTATGTGCCTTGAACTGAATATTTGGCTTTAAGAATGATTCTTATACTCTGAAGGTGAGAATATTTTGTGGGCAGGTATCAACATTGGGGAAGAGATTTCATGTCTAACTAACTAACTTTATACATGATTTTTAGGAAGCTATTGCCTAAATCAGCGTCAACATGCAGTAAAGGTTGTCTTCAACTGAGCTGTTCTAGTTTTCTCTTCCCCAGCACTGTCATCTAGATTTTCCATTTCAGTGATTCCCACCCCTCGGTCTACTAGCAACAACAACTTTCTTGTATCCTTTGAGGAGACGTTAGGGAGAACCATCATTTCACAGTTAAAAGAAAGACAGTCCAGTCCTAGGCAAAATTTCATGAAGCCACTTAGGATTTTGTATCCAGTCAGTCATCACCCACAGCAACCCCCACCCACAGCCATTAGCAAACCAGGACCGGGGCCAGGTGAAGTTTGAGGGCAACATCTCGCTTTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATATTTGAGACAGAGTCTTAACACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCTTGGATTCATGCCTTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCAGCTAATTTTTTGTACTTTTAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCACGTCCCTATTTTAGAAATGAGAGGAGTGACTGCACATAGGAAAAATGCCACTTTTAGCAATTCAAAGTGGAAAAACTTCTTTTATATAAAAATTATCCCAACTCCCACCCCTTGGCTCTCAGTGTTGCATCTCCCACAGAGGTAAAGTTGTGCCATTTTCCCACGGCTTTAAACAAAGCAAAACAAAACCACCAATCCTAATAACCCCCCTCCTTGCCCCGTCTCCACGCTGTGCGGAGAGGGCTCTAGCCCCTCAGTCGGACTTCTCCTTCTCCTTCATGTGCAAGAAGACGATGCTGAAGATGAAGAGCCCCAGCATCATGGAGAAGGCGCTGGCGTAGTAGGGGTAGGCCGAGGGGATGAAGCGCTCATACTGCGTGTGCTGGAGTGGCCGCACGGATACCTGCAGGAGGACAGAGGTGGCAGGACCTGGCCACTGCAGAGCCCAGGCAGGGCACATGCTAGCTGAAAACAGAAGCTGTCACCTGTGCTTACCTGAGTGGAAGAGTACAGGTGTGTGTAGCCTAGCCGGTTGTAATCCACTTTAAACTGGAATACACCATACACGTCGGGCAACTTGAACTGAACACTGTATTTGCCACCTGCGGAAGAACCAACAAGAATAACCGGGAGGGGTTTCCCAGAGCTTTTCCTGGTTGGGCCTCGAGAGCAAGTGAGGCCTGGGGCCGTTTTCTGGCAGCATCCTCGTGCAGGAACTACACTCACCTTTCTTCTTCAGGAAGGTCCTCACAAAAGGATCAATGCGGACAAACTCCAGCTGAATGTCATCGCCATCAAAGGGGACCCATTTGCCATTTGAGAGCTGCTGGATCACGATGCTATACTCCTGAGATAAAAGGCCAGGTTAGCCAGGGCTGGCCATGACTGGAGGCCTTCCACCACCTGCAGGCAGAGCTGCACTTAATTCCCACCCGACGAACATGGCAGGAATGCCCAGGAGTTCAGAAGACCTGCAGATGCCCCTGCCACCCGGCCCTGATCAGTAACCAGTCTCTCTCCTCAGCAAGGTTAATCCCCCAACACAGCATCTCTGCCTCTTCTCTGAAGGCCTAGATTCCTTCACACAGTATTCATGGCCCATCAAAGTCTGGACCCAAACCACCCTCCTGCCCCGACATGTGCCAGGCACTTTCAAGTATTCATGCTTCCATATTCGCTTTCTCTTGCCTAACAAATTCAACCTAATGACCTATTTCTCTTATTAAGTCCAACTTCCTGGGCAGAGTTAATCAGTGAAGCCCCTCCCACTGCTGCCCCCCATAGCAAATACACACACCTCTTCAAAAGAAGTGCTCCTATTAGGACATCAGTTTTCACGCCAGGCTCTGCATCTCACCTGGCATGCTTAGGTGTAGGGATTAACTTATTCATCTTTATTTATGCCCTTTAGGCCAGCAAAGAAGTGTTCAATAAGTGCTTCTGAGCTGAGCTCAGTCAGCTTGGCAAACCCTTTGGGCCCTCCCACCCCAAACATCTCTTACCACTAGGTCAGTGACAGTGTAGGCATTGGGTGGGGCTGTCTCGCCCACCCGATGATGGGACACAGGCCCCACACGGAGGACACCCTCCTCCTTGAACACCCAGCGGGAGAGGGCCACAGCTAGTTCATAGTTGCCTGTCTGGGAATACCTGCAGGAGGGAAACAGGAGCAGCTTGGGCACCAGAGCCACCTTTCCAGTGGTGCCTGATGGGCAGGACCACTCATGTCCACCATGACAGTACCCTAGCGAAGTTCTGCCTGTAGGCCTTGGGCACCTAGGGACTCATGGTTAAAGGGAACGCAGGAAACAAACGAAAAGATATGGCTGGTTGCTTGTCATCTGCACAACAAATACACAAATTTCTAAAAGGAACGGTGGAGGTTAGGGATCTCTAGATAAGTCACTACTACCTTAAAAAATTGGAAGTGCCAATACCAGCAATATAGCAATAAAGCCCTGAAATAATCTGACAGCACCTGAAACACTCAGCCTCTGACACTTTTAGCTAAAAGCCTCCTTCTTCCCCTTCTGAGTCCTCCCCATATACACACACTGCACCACCCGGATCCCCGGCCCCTAAGCCTCCTGGCAGCTACCTCTGGGAGCCGGGCGCCGCCTTCTGCACTGCTGAGTTGAAGAAGGAGTCGCTGAAGAAGTCGAGGGAGCCGCTGAAGATGACGCGGGCATTGTTCCTGGCCTGGAGCCCAGCAATGAGGAGGGTGTTCTTCCCCACCGCATGTGGATACTGGGAACAAAACGAGGCTGTGACCCAAGCAGTTCCAAGTAAGGGAAAAGCTGCCACGCCTCCCGAACAAGAGGACAGCAGGCCAGACCAAAACGACCCTGGCCCTACCTGAAGGGGGAGCCTGAGACCACACCGCTTCTGCCCATGCCCCACCCCACCAACTAGTCATTTCCTTCGCCTCAGCCAAATGTGCTGTTCTGCTTCATTTTTATTTCGAAGCCTCAAGGTTGTGAAGCCCTTACCTGGGTGATAGGCTTGTCCGGGAAGAAGGAGTAAGAGGTGGAAGAGCCCGTCAGGATGTCCAGCACCAAAGGGTTATCAGGATCGGCCACCATCCTGCAGCAGGACGAGAGCAGCCCAGCACTGGCCCCAGGAACTGAGCCCAAGGACATGGGATCCCCGAGAGCCAGTTCTTCCCAGGAATGAATCCTTTTTTCTTAATTGCCAACCACTTAGCTCTTGTCTTGATATAACAATGGAGTCTGACTT	benign	4,596
Evaluate this variant at chromosome 1, position 21554098, gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']	AAGATCCTTCTTCTGGTGGTAGTGGTTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGCCTGTAATCCCAGCCACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCCGGGGGGCGGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAACTCCGTCTCAAAAAAAAAAAAAAGAAAAAGAAAAAATCTTTTTCCTTTGAGCTGGAGCTGCAAAGAGAAGAATTTTTAAAAAGAAAAGAAACTTTTAAAAAATTAAAATACAAAAATTTTTCTTAGAGACAGGGTCTCGCTGTGTTGCCCAGGCTGGTCTCCAACTCCAGGCCTGAAGCGAACTTCCTCCAGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATGTTACCACCATGCCTGGCTTTTTTTCTTTAAACAACTTTTAAAAAATGTTTTATTTTGTTTTTACTTAACATATAATAATTGGACTAGAGTGGTGTCTTATCTGTCACAACACTTTTCTAACGGTAGAGTGTGTATTACTGCTGTTTCCCACAACAAATGGTGTCATATCTTGGTTTTGGCTGAAGCAATAACATTTCCCAGTGAAACTCTTGCCACTTAAAATTCTTTGTCTTGTAACTCATGTGCAACAGGGTTAGTACATTTCTCAGCTGCCAGTGGGGTTGTTCTTTGTGATTTAACAGGAAGACCACAGTGTAAAAACATTCTTATGCCATTAATACATGCTTGTTTTAGGCTACTTGGAAAATTCAAAAAAATAAAGAGGAAATAATCATTCATAGTCCTACCACCCAGAGAAAACCACAGTTAATGTTTTGGTGTATTTCCTTCCAGTTTTTTTTTCCACCTAAACTCTTCAATTACATCCGACTTTAAATATATATATATTTTTTAAAAATTGTAAAGATAATACTGTATCTCAGCACAAAAGAAAATTTTGGAAATGCAGAAAAGACAATGGAAAAGAAAAATCAGTTGTCTGTGATGTCACCACCCAGAAATGGCCACACTTACCAGCCAGTTTTTTCACATATGTGACTCCTACCATTTTTATATCTCTTACCATAAACGACAAGCTCTAGAAGAGAATGTAGCAAATGTAGGGGTCCTGAAAGAAGGGGTGCACTCTGTTTTGTCCCTGATGTTCCTGGGACACAGGTAATTAAAAGGCTGAAGACCGAGTGCTGTAGAACAGGGCTTCTCAAGGTGTGGTCCGCAAAGCAGCAAAGCAGCAGCTTCTCCTGGGAGCTTATTAGAAATACAATCGGAGCCTCACCAGTGGGCCGGGAATCTGTTGTAACAAGCCCTTGGGGGATTCAGATGCTTGCTCTCCTTACAGTTTGAGAAACACTGCACCAAAAGATTGGACTCTGGGAGGTAGGGGGCTTCAGATGAATTGAAAGTGGAAATTCACTTAGGAAATGGGACGGAACTGCTTTGCAGCATGGAACTCATTGACACTGACACAGCTGTTTGTGTGGTTAAGCTTCCTGAGACAGGGACCAGCTGGGTTTGGCATCCCAATGTTGAGCCCCATGCCTGGTCTGTAATAGGTGCTCACCGAATACTTGTTGAATGAATCAAGGAATGAATAAGTGAGTGAAAAAGGATCTCTAGAGCTGTGCCCCACATGCCTCTTTTTCTCTTTTTTTAATTTCTAGGATTGGAACATCAGTTAACATCTGACCACTGCCAGCCCACCCCCTCCCACCCACGTCGATTGCATCTCTGGGCTCCAGGGATAAAGCAGGTCTTGGGGTGCACCATGATTTCACCATTCTTAGTACTGGCCATTGGCACCTGCCTTACTAACTCCTTAGTGCCAGGTATGCTTGGGGACACAGGTGGAGGCATAAAAAGGTGGTGCAGATGGGGTATGATGAGGGCAGTGTCTATGTTTTAAGGTCCCAGAACCATCCAAAGTATTTAAGAGCTGAAAACAGTGTTCAGAGCAGGAAACCTCAGCCCTGCTACTTGCATGTGTTAGTTGGATAGGTCACTCTTTTCCCATATATATATATATACACACATACACATATATGAAATATATATATACAAGGAAAATATATATATACAAGGAAATATATATTTTCCACATATATATTTTTCCATATATATATTTCATATATATATTTTTCCATATATATATTTCATATATATTATATATATTCTTTCTTAATTTTTTTTTTTTTGAGACAGGGTTTCGCTCTGTTGCCCAAGCTAGAGTGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTTCTTTCTTTCTTTCTTTCTTTTCTTTTTCTTTCCTTTCTTTCCTTTCTTTTCTCTCGCATCCGAGTGAAGAGACCACCAAACAGGCTTTGAGTGAGCAACAAGGCTGTTTATTTCACCTGGGTGCAGGCGGGCTAAGTCCAAAAAGAGAGTCAGCCAAGGGAGATATGGGTGGGGCCGTTTTATAAGATAGGGGTAGGTAAAGGAAAAATTACAGTCAAAGGGGGGTTCTCTGGCGGGCAGGAGTGGGGGTCACAAGGTGCTCAGTGGGGGAGCTTTTTGAGCCAGGATGAGCCAGGAGAAGGAATTTCACAAGGTAATGTCGTCAGTTAAGGCAAGGACCGGCCATTTTCACTTCTTTTGTGGTGGAATGTCATCAGTTAAGGTAGGAACAGACCATTTAAATTTCACTTCTTTTGTGATTCTTCAGTTACTTCAGGCCGTCTGGATGTATATGTGCAGGTCACAGGGGATATGATGGCTTAGCTTGGGCTCAGACGCCTGACACTTTCTTTTTGAGACAGAGACAGACTCTCACTCTGTTTGCCCAGGATGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACCTTCGCCACCCAGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCGCAACACCCGGCTAATTTTTTGTATTCTTATTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTTTTTCTTGTCATTTGTAGTTCTCACTAGTGAACTCATCTTCAACAGGAGTTTTTTGTTTTTCTTTTTTTTGAGACAGTGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCATCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCGCAGCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCGAGTTTTTTGTTTTTCTGTTGGAGATTCACGCGGAAGTGTTTCCACAGCATGGCATGGTGTTTTCAGGACACT	AAGATCCTTCTTCTGGTGGTAGTGGTTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGCCTGTAATCCCAGCCACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCCGGGGGGCGGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAACTCCGTCTCAAAAAAAAAAAAAAGAAAAAGAAAAAATCTTTTTCCTTTGAGCTGGAGCTGCAAAGAGAAGAATTTTTAAAAAGAAAAGAAACTTTTAAAAAATTAAAATACAAAAATTTTTCTTAGAGACAGGGTCTCGCTGTGTTGCCCAGGCTGGTCTCCAACTCCAGGCCTGAAGCGAACTTCCTCCAGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATGTTACCACCATGCCTGGCTTTTTTTCTTTAAACAACTTTTAAAAAATGTTTTATTTTGTTTTTACTTAACATATAATAATTGGACTAGAGTGGTGTCTTATCTGTCACAACACTTTTCTAACGGTAGAGTGTGTATTACTGCTGTTTCCCACAACAAATGGTGTCATATCTTGGTTTTGGCTGAAGCAATAACATTTCCCAGTGAAACTCTTGCCACTTAAAATTCTTTGTCTTGTAACTCATGTGCAACAGGGTTAGTACATTTCTCAGCTGCCAGTGGGGTTGTTCTTTGTGATTTAACAGGAAGACCACAGTGTAAAAACATTCTTATGCCATTAATACATGCTTGTTTTAGGCTACTTGGAAAATTCAAAAAAATAAAGAGGAAATAATCATTCATAGTCCTACCACCCAGAGAAAACCACAGTTAATGTTTTGGTGTATTTCCTTCCAGTTTTTTTTTCCACCTAAACTCTTCAATTACATCCGACTTTAAATATATATATATTTTTTAAAAATTGTAAAGATAATACTGTATCTCAGCACAAAAGAAAATTTTGGAAATGCAGAAAAGACAATGGAAAAGAAAAATCAGTTGTCTGTGATGTCACCACCCAGAAATGGCCACACTTACCAGCCAGTTTTTTCACATATGTGACTCCTACCATTTTTATATCTCTTACCATAAACGACAAGCTCTAGAAGAGAATGTAGCAAATGTAGGGGTCCTGAAAGAAGGGGTGCACTCTGTTTTGTCCCTGATGTTCCTGGGACACAGGTAATTAAAAGGCTGAAGACCGAGTGCTGTAGAACAGGGCTTCTCAAGGTGTGGTCCGCAAAGCAGCAAAGCAGCAGCTTCTCCTGGGAGCTTATTAGAAATACAATCGGAGCCTCACCAGTGGGCCGGGAATCTGTTGTAACAAGCCCTTGGGGGATTCAGATGCTTGCTCTCCTTACAGTTTGAGAAACACTGCACCAAAAGATTGGACTCTGGGAGGTAGGGGGCTTCAGATGAATTGAAAGTGGAAATTCACTTAGGAAATGGGACGGAACTGCTTTGCAGCATGGAACTCATTGACACTGACACAGCTGTTTGTGTGGTTAAGCTTCCTGAGACAGGGACCAGCTGGGTTTGGCATCCCAATGTTGAGCCCCATGCCTGGTCTGTAATAGGTGCTCACCGAATACTTGTTGAATGAATCAAGGAATGAATAAGTGAGTGAAAAAGGATCTCTAGAGCTGTGCCCCACATGCCTCTTTTTCTCTTTTTTTAATTTCTAGGATTGGAACATCAGTTAACATCTGACCACTGCCAGCCCACCCCCTCCCACCCACGTCGATTGCATCTCTGGGCTCCAGGGATAAAGCAGGTCTTGGGGTGCACCATGATTTCACCATTCTTGTACTGGCCATTGGCACCTGCCTTACTAACTCCTTAGTGCCAGGTATGCTTGGGGACACAGGTGGAGGCATAAAAAGGTGGTGCAGATGGGGTATGATGAGGGCAGTGTCTATGTTTTAAGGTCCCAGAACCATCCAAAGTATTTAAGAGCTGAAAACAGTGTTCAGAGCAGGAAACCTCAGCCCTGCTACTTGCATGTGTTAGTTGGATAGGTCACTCTTTTCCCATATATATATATATACACACATACACATATATGAAATATATATATACAAGGAAAATATATATATACAAGGAAATATATATTTTCCACATATATATTTTTCCATATATATATTTCATATATATATTTTTCCATATATATATTTCATATATATTATATATATTCTTTCTTAATTTTTTTTTTTTTGAGACAGGGTTTCGCTCTGTTGCCCAAGCTAGAGTGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTTCTTTCTTTCTTTCTTTCTTTTCTTTTTCTTTCCTTTCTTTCCTTTCTTTTCTCTCGCATCCGAGTGAAGAGACCACCAAACAGGCTTTGAGTGAGCAACAAGGCTGTTTATTTCACCTGGGTGCAGGCGGGCTAAGTCCAAAAAGAGAGTCAGCCAAGGGAGATATGGGTGGGGCCGTTTTATAAGATAGGGGTAGGTAAAGGAAAAATTACAGTCAAAGGGGGGTTCTCTGGCGGGCAGGAGTGGGGGTCACAAGGTGCTCAGTGGGGGAGCTTTTTGAGCCAGGATGAGCCAGGAGAAGGAATTTCACAAGGTAATGTCGTCAGTTAAGGCAAGGACCGGCCATTTTCACTTCTTTTGTGGTGGAATGTCATCAGTTAAGGTAGGAACAGACCATTTAAATTTCACTTCTTTTGTGATTCTTCAGTTACTTCAGGCCGTCTGGATGTATATGTGCAGGTCACAGGGGATATGATGGCTTAGCTTGGGCTCAGACGCCTGACACTTTCTTTTTGAGACAGAGACAGACTCTCACTCTGTTTGCCCAGGATGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACCTTCGCCACCCAGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCGCAACACCCGGCTAATTTTTTGTATTCTTATTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTTTTTCTTGTCATTTGTAGTTCTCACTAGTGAACTCATCTTCAACAGGAGTTTTTTGTTTTTCTTTTTTTTGAGACAGTGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCATCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCGCAGCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCGAGTTTTTTGTTTTTCTGTTGGAGATTCACGCGGAAGTGTTTCCACAGCATGGCATGGTGTTTTCAGGACACTN	pathogenic	4,654
Mutation at chromosome 1, position 21554123, within ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, indicate the disease(s).	pathogenic; ['Hypophosphatasia', 'Infantile_hypophosphatasia']	TTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGCCTGTAATCCCAGCCACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCCGGGGGGCGGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAACTCCGTCTCAAAAAAAAAAAAAAGAAAAAGAAAAAATCTTTTTCCTTTGAGCTGGAGCTGCAAAGAGAAGAATTTTTAAAAAGAAAAGAAACTTTTAAAAAATTAAAATACAAAAATTTTTCTTAGAGACAGGGTCTCGCTGTGTTGCCCAGGCTGGTCTCCAACTCCAGGCCTGAAGCGAACTTCCTCCAGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATGTTACCACCATGCCTGGCTTTTTTTCTTTAAACAACTTTTAAAAAATGTTTTATTTTGTTTTTACTTAACATATAATAATTGGACTAGAGTGGTGTCTTATCTGTCACAACACTTTTCTAACGGTAGAGTGTGTATTACTGCTGTTTCCCACAACAAATGGTGTCATATCTTGGTTTTGGCTGAAGCAATAACATTTCCCAGTGAAACTCTTGCCACTTAAAATTCTTTGTCTTGTAACTCATGTGCAACAGGGTTAGTACATTTCTCAGCTGCCAGTGGGGTTGTTCTTTGTGATTTAACAGGAAGACCACAGTGTAAAAACATTCTTATGCCATTAATACATGCTTGTTTTAGGCTACTTGGAAAATTCAAAAAAATAAAGAGGAAATAATCATTCATAGTCCTACCACCCAGAGAAAACCACAGTTAATGTTTTGGTGTATTTCCTTCCAGTTTTTTTTTCCACCTAAACTCTTCAATTACATCCGACTTTAAATATATATATATTTTTTAAAAATTGTAAAGATAATACTGTATCTCAGCACAAAAGAAAATTTTGGAAATGCAGAAAAGACAATGGAAAAGAAAAATCAGTTGTCTGTGATGTCACCACCCAGAAATGGCCACACTTACCAGCCAGTTTTTTCACATATGTGACTCCTACCATTTTTATATCTCTTACCATAAACGACAAGCTCTAGAAGAGAATGTAGCAAATGTAGGGGTCCTGAAAGAAGGGGTGCACTCTGTTTTGTCCCTGATGTTCCTGGGACACAGGTAATTAAAAGGCTGAAGACCGAGTGCTGTAGAACAGGGCTTCTCAAGGTGTGGTCCGCAAAGCAGCAAAGCAGCAGCTTCTCCTGGGAGCTTATTAGAAATACAATCGGAGCCTCACCAGTGGGCCGGGAATCTGTTGTAACAAGCCCTTGGGGGATTCAGATGCTTGCTCTCCTTACAGTTTGAGAAACACTGCACCAAAAGATTGGACTCTGGGAGGTAGGGGGCTTCAGATGAATTGAAAGTGGAAATTCACTTAGGAAATGGGACGGAACTGCTTTGCAGCATGGAACTCATTGACACTGACACAGCTGTTTGTGTGGTTAAGCTTCCTGAGACAGGGACCAGCTGGGTTTGGCATCCCAATGTTGAGCCCCATGCCTGGTCTGTAATAGGTGCTCACCGAATACTTGTTGAATGAATCAAGGAATGAATAAGTGAGTGAAAAAGGATCTCTAGAGCTGTGCCCCACATGCCTCTTTTTCTCTTTTTTTAATTTCTAGGATTGGAACATCAGTTAACATCTGACCACTGCCAGCCCACCCCCTCCCACCCACGTCGATTGCATCTCTGGGCTCCAGGGATAAAGCAGGTCTTGGGGTGCACCATGATTTCACCATTCTTAGTACTGGCCATTGGCACCTGCCTTACTAACTCCTTAGTGCCAGGTATGCTTGGGGACACAGGTGGAGGCATAAAAAGGTGGTGCAGATGGGGTATGATGAGGGCAGTGTCTATGTTTTAAGGTCCCAGAACCATCCAAAGTATTTAAGAGCTGAAAACAGTGTTCAGAGCAGGAAACCTCAGCCCTGCTACTTGCATGTGTTAGTTGGATAGGTCACTCTTTTCCCATATATATATATATACACACATACACATATATGAAATATATATATACAAGGAAAATATATATATACAAGGAAATATATATTTTCCACATATATATTTTTCCATATATATATTTCATATATATATTTTTCCATATATATATTTCATATATATTATATATATTCTTTCTTAATTTTTTTTTTTTTGAGACAGGGTTTCGCTCTGTTGCCCAAGCTAGAGTGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTTCTTTCTTTCTTTCTTTCTTTTCTTTTTCTTTCCTTTCTTTCCTTTCTTTTCTCTCGCATCCGAGTGAAGAGACCACCAAACAGGCTTTGAGTGAGCAACAAGGCTGTTTATTTCACCTGGGTGCAGGCGGGCTAAGTCCAAAAAGAGAGTCAGCCAAGGGAGATATGGGTGGGGCCGTTTTATAAGATAGGGGTAGGTAAAGGAAAAATTACAGTCAAAGGGGGGTTCTCTGGCGGGCAGGAGTGGGGGTCACAAGGTGCTCAGTGGGGGAGCTTTTTGAGCCAGGATGAGCCAGGAGAAGGAATTTCACAAGGTAATGTCGTCAGTTAAGGCAAGGACCGGCCATTTTCACTTCTTTTGTGGTGGAATGTCATCAGTTAAGGTAGGAACAGACCATTTAAATTTCACTTCTTTTGTGATTCTTCAGTTACTTCAGGCCGTCTGGATGTATATGTGCAGGTCACAGGGGATATGATGGCTTAGCTTGGGCTCAGACGCCTGACACTTTCTTTTTGAGACAGAGACAGACTCTCACTCTGTTTGCCCAGGATGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACCTTCGCCACCCAGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCGCAACACCCGGCTAATTTTTTGTATTCTTATTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTTTTTCTTGTCATTTGTAGTTCTCACTAGTGAACTCATCTTCAACAGGAGTTTTTTGTTTTTCTTTTTTTTGAGACAGTGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCATCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCGCAGCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCGAGTTTTTTGTTTTTCTGTTGGAGATTCACGCGGAAGTGTTTCCACAGCATGGCATGGTGTTTTCAGGACACTAGGGGTTCAACTAATTCTAGGCCAG	TTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGCCTGTAATCCCAGCCACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCCGGGGGGCGGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAACTCCGTCTCAAAAAAAAAAAAAAGAAAAAGAAAAAATCTTTTTCCTTTGAGCTGGAGCTGCAAAGAGAAGAATTTTTAAAAAGAAAAGAAACTTTTAAAAAATTAAAATACAAAAATTTTTCTTAGAGACAGGGTCTCGCTGTGTTGCCCAGGCTGGTCTCCAACTCCAGGCCTGAAGCGAACTTCCTCCAGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATGTTACCACCATGCCTGGCTTTTTTTCTTTAAACAACTTTTAAAAAATGTTTTATTTTGTTTTTACTTAACATATAATAATTGGACTAGAGTGGTGTCTTATCTGTCACAACACTTTTCTAACGGTAGAGTGTGTATTACTGCTGTTTCCCACAACAAATGGTGTCATATCTTGGTTTTGGCTGAAGCAATAACATTTCCCAGTGAAACTCTTGCCACTTAAAATTCTTTGTCTTGTAACTCATGTGCAACAGGGTTAGTACATTTCTCAGCTGCCAGTGGGGTTGTTCTTTGTGATTTAACAGGAAGACCACAGTGTAAAAACATTCTTATGCCATTAATACATGCTTGTTTTAGGCTACTTGGAAAATTCAAAAAAATAAAGAGGAAATAATCATTCATAGTCCTACCACCCAGAGAAAACCACAGTTAATGTTTTGGTGTATTTCCTTCCAGTTTTTTTTTCCACCTAAACTCTTCAATTACATCCGACTTTAAATATATATATATTTTTTAAAAATTGTAAAGATAATACTGTATCTCAGCACAAAAGAAAATTTTGGAAATGCAGAAAAGACAATGGAAAAGAAAAATCAGTTGTCTGTGATGTCACCACCCAGAAATGGCCACACTTACCAGCCAGTTTTTTCACATATGTGACTCCTACCATTTTTATATCTCTTACCATAAACGACAAGCTCTAGAAGAGAATGTAGCAAATGTAGGGGTCCTGAAAGAAGGGGTGCACTCTGTTTTGTCCCTGATGTTCCTGGGACACAGGTAATTAAAAGGCTGAAGACCGAGTGCTGTAGAACAGGGCTTCTCAAGGTGTGGTCCGCAAAGCAGCAAAGCAGCAGCTTCTCCTGGGAGCTTATTAGAAATACAATCGGAGCCTCACCAGTGGGCCGGGAATCTGTTGTAACAAGCCCTTGGGGGATTCAGATGCTTGCTCTCCTTACAGTTTGAGAAACACTGCACCAAAAGATTGGACTCTGGGAGGTAGGGGGCTTCAGATGAATTGAAAGTGGAAATTCACTTAGGAAATGGGACGGAACTGCTTTGCAGCATGGAACTCATTGACACTGACACAGCTGTTTGTGTGGTTAAGCTTCCTGAGACAGGGACCAGCTGGGTTTGGCATCCCAATGTTGAGCCCCATGCCTGGTCTGTAATAGGTGCTCACCGAATACTTGTTGAATGAATCAAGGAATGAATAAGTGAGTGAAAAAGGATCTCTAGAGCTGTGCCCCACATGCCTCTTTTTCTCTTTTTTTAATTTCTAGGATTGGAACATCAGTTAACATCTGACCACTGCCAGCCCACCCCCTCCCACCCACGTCGATTGCATCTCTGGGCTCCAGGGATAAAGCAGGTCTTGGGGTGCACCATGATTTCACCATTCTTAGTACTGGCCATTGGCACCTGCCTTACTCCTTAGTGCCAGGTATGCTTGGGGACACAGGTGGAGGCATAAAAAGGTGGTGCAGATGGGGTATGATGAGGGCAGTGTCTATGTTTTAAGGTCCCAGAACCATCCAAAGTATTTAAGAGCTGAAAACAGTGTTCAGAGCAGGAAACCTCAGCCCTGCTACTTGCATGTGTTAGTTGGATAGGTCACTCTTTTCCCATATATATATATATACACACATACACATATATGAAATATATATATACAAGGAAAATATATATATACAAGGAAATATATATTTTCCACATATATATTTTTCCATATATATATTTCATATATATATTTTTCCATATATATATTTCATATATATTATATATATTCTTTCTTAATTTTTTTTTTTTTGAGACAGGGTTTCGCTCTGTTGCCCAAGCTAGAGTGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTTCTTTCTTTCTTTCTTTCTTTTCTTTTTCTTTCCTTTCTTTCCTTTCTTTTCTCTCGCATCCGAGTGAAGAGACCACCAAACAGGCTTTGAGTGAGCAACAAGGCTGTTTATTTCACCTGGGTGCAGGCGGGCTAAGTCCAAAAAGAGAGTCAGCCAAGGGAGATATGGGTGGGGCCGTTTTATAAGATAGGGGTAGGTAAAGGAAAAATTACAGTCAAAGGGGGGTTCTCTGGCGGGCAGGAGTGGGGGTCACAAGGTGCTCAGTGGGGGAGCTTTTTGAGCCAGGATGAGCCAGGAGAAGGAATTTCACAAGGTAATGTCGTCAGTTAAGGCAAGGACCGGCCATTTTCACTTCTTTTGTGGTGGAATGTCATCAGTTAAGGTAGGAACAGACCATTTAAATTTCACTTCTTTTGTGATTCTTCAGTTACTTCAGGCCGTCTGGATGTATATGTGCAGGTCACAGGGGATATGATGGCTTAGCTTGGGCTCAGACGCCTGACACTTTCTTTTTGAGACAGAGACAGACTCTCACTCTGTTTGCCCAGGATGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACCTTCGCCACCCAGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCGCAACACCCGGCTAATTTTTTGTATTCTTATTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTTTTTCTTGTCATTTGTAGTTCTCACTAGTGAACTCATCTTCAACAGGAGTTTTTTGTTTTTCTTTTTTTTGAGACAGTGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCATCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCGCAGCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCGAGTTTTTTGTTTTTCTGTTGGAGATTCACGCGGAAGTGTTTCCACAGCATGGCATGGTGTTTTCAGGACACTAGGGGTTCAACTAATTCTAGGCCAGNNNN	pathogenic	4,655
Assess the variant on chromosome 1, position 21560691, impacting ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Infantile_hypophosphatasia']	TCTGAAATTGATGCCCTCAGCAGACACTTCCAGAAGAGAGAGGGTGGACCTGGGGCTGTCGGGATGAGGGTAGTGGGCTGAGGGATTGGGGTGGTGGTGACGTAAGGGGAGGCCTCTTGGGGAGGGGCGTGGGGTGTGCTTGGGTCCAAAGCTAGAGGTGCACTGCAGCACCCTGGCGGCTCCTCGCCTGTGCTCTGCGCCTATGCTAGGCTGGGGCAGAGCCACGGCGACGCGTGAGTTTCCGGTTCTCCCACTTGGGGCCCTAATCTCAGGCTCTCCATTTCCTAATGTGGAGGAGACACTGGTGCCCACCTGCCAAGGCAGTTGAGAGGAATAAGAGAAGCTGTGTGGGGGGTCCCTGGCATCTCGCCCAGAGCCAGTGCGTGTGTGAGGAAGGAGGGCTGTTCTTTACCCACGGCCACTCCGAGAGCCAGGCACGCGTCGGAGCTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGCCCAGTCCTTAGAGCGACCCTGAGGGGATGATGCCAGCAATGTCATTTAACAGGGGAAGAGACTGAGGCTGAGGGAGGTGACAGAGCTAGTACTTGGAGCAGCTGGGGGTTTTTTGTTTGTTTGTTTTTGAGACGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACTGCCACGCCCAGCTAATTTTTCATATTTCAGTAGAGACGGGATATCACCGTGTTGCCCAAGTTGGTCGCGAACTCCTGAGCTCAGGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGCTGGGGTTTTAATTGAGGTCTGTCTGGCACTAAAGCTGTGGATTGGTTGCTGGACACACACACACATGAGAAAGAGGGAGAGAGAAAGAAGTGTTCTTAGTTCTCATTTTATCTCAAAACCATAAAGCCCCAGCCAGAAGTCACTATCAGCCAAGAGGGATGGAGGGGGCGATGAGAGATGCAGAATGTCGTCCTTGATAACTAATCCTAACAAGAGTGAGATCACCTGGCTCCTTTAAATTTGACATATTAAGCAAAAGGCAAGCTTCGCTTTCCAGCACTGCTATTAAACCAAGTCAGGTTCCTGCTGAGCCTACTTTAATGAATAAGCTAAGCAGAGTTGATAATTGATGGCTGGCTATATCAGGGGACCCCTTCTGCTGGAAGGAGTTTGTTGAATAGGTTAAACATTACTCTCTTAATTGTGCTAGCACAATTCATTTGCTGCCTTAGCAGCTCATCTCCCTACTGGGTAGAAGGAATGAGCATGGGCTTTGGAGCGAAACCCAGCCCTGCCAGTGTCTGCCTGTGCTGTGTGGCCTTAGGCAAGTTGCTCGTTGTCTCTGAGCCTTGGTTTCTTCATTCTGAGATGTGAGGAGAAGACCCCAGGGTCCACAGGCTTTTCTGGAGGATCTGGATGGCACATATTTATAAACCACAGATGTGTTGTCTGGGTGGGCAACTATTGCACCCACCTCCAAGTTCAGGCATTCCAGCCTGAGCAATCAGAAGTGGGGGGATCTGTACGTCTGGAGATAGGAGGCTATCCTTACCCCGCCAAGTAACTGCCTCTCTCTGTGTTTAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGTGAGGCCCAGGGGCCTGTGGGAGGGGTGGAACAGGACACCTAGCTAGGAGCCCCGGGAGCCAGGCTGAGTTGAAGGGGGCTGTGTTGAAGGGGCTAGGGCTCTGGAGGAAGGGTGTTTAAAAGGATGAGGGGCCAGGCTGTGGATTCAAGAGGCCTGCTCTGCCAGACAGCCCCCTGAGGATCTGGGGGTGAAGGGAGAGAGGGGCTGCTCACTGACATTTACAGAGCCATGCCCAGTGCCAACTGCCCGAGCCTGCCTTGGTACCGAACTAGAGAGCTTCTGGGTACCCAAGCAGGCTGATTGGAGAGGCAGGAGCACGAGAGACTGAGGCCCCCACTCCCCACTGCAGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAG	TCTGAAATTGATGCCCTCAGCAGACACTTCCAGAAGAGAGAGGGTGGACCTGGGGCTGTCGGGATGAGGGTAGTGGGCTGAGGGATTGGGGTGGTGGTGACGTAAGGGGAGGCCTCTTGGGGAGGGGCGTGGGGTGTGCTTGGGTCCAAAGCTAGAGGTGCACTGCAGCACCCTGGCGGCTCCTCGCCTGTGCTCTGCGCCTATGCTAGGCTGGGGCAGAGCCACGGCGACGCGTGAGTTTCCGGTTCTCCCACTTGGGGCCCTAATCTCAGGCTCTCCATTTCCTAATGTGGAGGAGACACTGGTGCCCACCTGCCAAGGCAGTTGAGAGGAATAAGAGAAGCTGTGTGGGGGGTCCCTGGCATCTCGCCCAGAGCCAGTGCGTGTGTGAGGAAGGAGGGCTGTTCTTTACCCACGGCCACTCCGAGAGCCAGGCACGCGTCGGAGCTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGCCCAGTCCTTAGAGCGACCCTGAGGGGATGATGCCAGCAATGTCATTTAACAGGGGAAGAGACTGAGGCTGAGGGAGGTGACAGAGCTAGTACTTGGAGCAGCTGGGGGTTTTTTGTTTGTTTGTTTTTGAGACGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACTGCCACGCCCAGCTAATTTTTCATATTTCAGTAGAGACGGGATATCACCGTGTTGCCCAAGTTGGTCGCGAACTCCTGAGCTCAGGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGCTGGGGTTTTAATTGAGGTCTGTCTGGCACTAAAGCTGTGGATTGGTTGCTGGACACACACACACATGAGAAAGAGGGAGAGAGAAAGAAGTGTTCTTAGTTCTCATTTTATCTCAAAACCATAAAGCCCCAGCCAGAAGTCACTATCAGCCAAGAGGGATGGAGGGGGCGATGAGAGATGCAGAATGTCGTCCTTGATAACTAATCCTAACAAGAGTGAGATCACCTGGCTCCTTTAAATTTGACATATTAAGCAAAAGGCAAGCTTCGCTTTCCAGCACTGCTATTAAACCAAGTCAGGTTCCTGCTGAGCCTACTTTAATGAATAAGCTAAGCAGAGTTGATAATTGATGGCTGGCTATATCAGGGGACCCCTTCTGCTGGAAGGAGTTTGTTGAATAGGTTAAACATTACTCTCTTAATTGTGCTAGCACAATTCATTTGCTGCCTTAGCAGCTCATCTCCCTACTGGGTAGAAGGAATGAGCATGGGCTTTGGAGCGAAACCCAGCCCTGCCAGTGTCTGCCTGTGCTGTGTGGCCTTAGGCAAGTTGCTCGTTGTCTCTGAGCCTTGGTTTCTTCATTCTGAGATGTGAGGAGAAGACCCCAGGGTCCACAGGCTTTTCTGGAGGATCTGGATGGCACATATTTATAAACCACAGATGTGTTGTCTGGGTGGGCAACTATTGCACCCACCTCCAAGTTCAGGCATTCCAGCCTGAGCAATCAGAAGTGGGGGGATCTGTACGTCTGGAGATAGGAGGCTATCCTTACCCCGCCAAGTAACTGCCTCTCTCTGTGTTTAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGTGAGGCCCAGGGGCCTGTGGGAGGGGTGGAACAGGACACCTAGCTAGGAGCCCCGGGAGCCAGGCTGAGTTGAAGGGGGCTGTGTTGAAGGGGCTAGGGCTCTGGAGGAAGGGTGTTTAAAAGGATGAGGGGCCAGGCTGTGGATTCAAGAGGCCTGCTCTGCCAGACAGCCCCCTGAGGATCTGGGGGTGAAGGGAGAGAGGGGCTGCTCACTGACATTTACAGAGCCATGCCCAGTGCCAACTGCCCGAGCCTGCCTTGGTACCGAACTAGAGAGCTTCTGGGTACCCAAGCAGGCTGATTGGAGAGGCAGGAGCACGAGAGACTGAGGCCCCCACTCCCCACTGCAGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGN	pathogenic	4,665
Gene mutation in ALPL (alkaline phosphatase, biomineralization associated) at chromosome 1, position 21561095—is it benign or pathogenic? If pathogenic, specify the disease(s).	pathogenic; ['Infantile_hypophosphatasia']	TTCTTTACCCACGGCCACTCCGAGAGCCAGGCACGCGTCGGAGCTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGCCCAGTCCTTAGAGCGACCCTGAGGGGATGATGCCAGCAATGTCATTTAACAGGGGAAGAGACTGAGGCTGAGGGAGGTGACAGAGCTAGTACTTGGAGCAGCTGGGGGTTTTTTGTTTGTTTGTTTTTGAGACGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACTGCCACGCCCAGCTAATTTTTCATATTTCAGTAGAGACGGGATATCACCGTGTTGCCCAAGTTGGTCGCGAACTCCTGAGCTCAGGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGCTGGGGTTTTAATTGAGGTCTGTCTGGCACTAAAGCTGTGGATTGGTTGCTGGACACACACACACATGAGAAAGAGGGAGAGAGAAAGAAGTGTTCTTAGTTCTCATTTTATCTCAAAACCATAAAGCCCCAGCCAGAAGTCACTATCAGCCAAGAGGGATGGAGGGGGCGATGAGAGATGCAGAATGTCGTCCTTGATAACTAATCCTAACAAGAGTGAGATCACCTGGCTCCTTTAAATTTGACATATTAAGCAAAAGGCAAGCTTCGCTTTCCAGCACTGCTATTAAACCAAGTCAGGTTCCTGCTGAGCCTACTTTAATGAATAAGCTAAGCAGAGTTGATAATTGATGGCTGGCTATATCAGGGGACCCCTTCTGCTGGAAGGAGTTTGTTGAATAGGTTAAACATTACTCTCTTAATTGTGCTAGCACAATTCATTTGCTGCCTTAGCAGCTCATCTCCCTACTGGGTAGAAGGAATGAGCATGGGCTTTGGAGCGAAACCCAGCCCTGCCAGTGTCTGCCTGTGCTGTGTGGCCTTAGGCAAGTTGCTCGTTGTCTCTGAGCCTTGGTTTCTTCATTCTGAGATGTGAGGAGAAGACCCCAGGGTCCACAGGCTTTTCTGGAGGATCTGGATGGCACATATTTATAAACCACAGATGTGTTGTCTGGGTGGGCAACTATTGCACCCACCTCCAAGTTCAGGCATTCCAGCCTGAGCAATCAGAAGTGGGGGGATCTGTACGTCTGGAGATAGGAGGCTATCCTTACCCCGCCAAGTAACTGCCTCTCTCTGTGTTTAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGTGAGGCCCAGGGGCCTGTGGGAGGGGTGGAACAGGACACCTAGCTAGGAGCCCCGGGAGCCAGGCTGAGTTGAAGGGGGCTGTGTTGAAGGGGCTAGGGCTCTGGAGGAAGGGTGTTTAAAAGGATGAGGGGCCAGGCTGTGGATTCAAGAGGCCTGCTCTGCCAGACAGCCCCCTGAGGATCTGGGGGTGAAGGGAGAGAGGGGCTGCTCACTGACATTTACAGAGCCATGCCCAGTGCCAACTGCCCGAGCCTGCCTTGGTACCGAACTAGAGAGCTTCTGGGTACCCAAGCAGGCTGATTGGAGAGGCAGGAGCACGAGAGACTGAGGCCCCCACTCCCCACTGCAGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGT	TTCTTTACCCACGGCCACTCCGAGAGCCAGGCACGCGTCGGAGCTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGCCCAGTCCTTAGAGCGACCCTGAGGGGATGATGCCAGCAATGTCATTTAACAGGGGAAGAGACTGAGGCTGAGGGAGGTGACAGAGCTAGTACTTGGAGCAGCTGGGGGTTTTTTGTTTGTTTGTTTTTGAGACGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACTGCCACGCCCAGCTAATTTTTCATATTTCAGTAGAGACGGGATATCACCGTGTTGCCCAAGTTGGTCGCGAACTCCTGAGCTCAGGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGCTGGGGTTTTAATTGAGGTCTGTCTGGCACTAAAGCTGTGGATTGGTTGCTGGACACACACACACATGAGAAAGAGGGAGAGAGAAAGAAGTGTTCTTAGTTCTCATTTTATCTCAAAACCATAAAGCCCCAGCCAGAAGTCACTATCAGCCAAGAGGGATGGAGGGGGCGATGAGAGATGCAGAATGTCGTCCTTGATAACTAATCCTAACAAGAGTGAGATCACCTGGCTCCTTTAAATTTGACATATTAAGCAAAAGGCAAGCTTCGCTTTCCAGCACTGCTATTAAACCAAGTCAGGTTCCTGCTGAGCCTACTTTAATGAATAAGCTAAGCAGAGTTGATAATTGATGGCTGGCTATATCAGGGGACCCCTTCTGCTGGAAGGAGTTTGTTGAATAGGTTAAACATTACTCTCTTAATTGTGCTAGCACAATTCATTTGCTGCCTTAGCAGCTCATCTCCCTACTGGGTAGAAGGAATGAGCATGGGCTTTGGAGCGAAACCCAGCCCTGCCAGTGTCTGCCTGTGCTGTGTGGCCTTAGGCAAGTTGCTCGTTGTCTCTGAGCCTTGGTTTCTTCATTCTGAGATGTGAGGAGAAGACCCCAGGGTCCACAGGCTTTTCTGGAGGATCTGGATGGCACATATTTATAAACCACAGATGTGTTGTCTGGGTGGGCAACTATTGCACCCACCTCCAAGTTCAGGCATTCCAGCCTGAGCAATCAGAAGTGGGGGGATCTGTACGTCTGGAGATAGGAGGCTATCCTTACCCCGCCAAGTAACTGCCTCTCTCTGTGTTTAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGTGAGGCCCAGGGGCCTGTGGGAGGGGTGGAACAGGACACCTAGCTAGGAGCCCCGGGAGCCAGGCTGAGTTGAAGGGGGCTGTGTTGAAGGGGCTAGGGCTCTGGAGGAAGGGTGTTTAAAAGGATGAGGGGCCAGGCTGTGGATTCAAGAGGCCTGCTCTGCCAGACAGCCCCCTGAGGATCTGGGGGTGAAGGGAGAGAGGGGCTGCTCACTGACATTTACAGAGCCATGCCCAGTGCCAACTGCCCGAGCCTGCCTTGGTACCGAACTAGAGAGCTTCTGGGTACCCAAGCAGGCTGATTGGAGAGGCAGGAGCACGAGAGACTGAGGCCCCCACTCCCCACTGCAGGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAG	pathogenic	4,674
Is chromosome 1, position 21561138, gene ALPL (alkaline phosphatase, biomineralization associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?	pathogenic; ['Infantile_hypophosphatasia']	CTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGCCCAGTCCTTAGAGCGACCCTGAGGGGATGATGCCAGCAATGTCATTTAACAGGGGAAGAGACTGAGGCTGAGGGAGGTGACAGAGCTAGTACTTGGAGCAGCTGGGGGTTTTTTGTTTGTTTGTTTTTGAGACGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACTGCCACGCCCAGCTAATTTTTCATATTTCAGTAGAGACGGGATATCACCGTGTTGCCCAAGTTGGTCGCGAACTCCTGAGCTCAGGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGCTGGGGTTTTAATTGAGGTCTGTCTGGCACTAAAGCTGTGGATTGGTTGCTGGACACACACACACATGAGAAAGAGGGAGAGAGAAAGAAGTGTTCTTAGTTCTCATTTTATCTCAAAACCATAAAGCCCCAGCCAGAAGTCACTATCAGCCAAGAGGGATGGAGGGGGCGATGAGAGATGCAGAATGTCGTCCTTGATAACTAATCCTAACAAGAGTGAGATCACCTGGCTCCTTTAAATTTGACATATTAAGCAAAAGGCAAGCTTCGCTTTCCAGCACTGCTATTAAACCAAGTCAGGTTCCTGCTGAGCCTACTTTAATGAATAAGCTAAGCAGAGTTGATAATTGATGGCTGGCTATATCAGGGGACCCCTTCTGCTGGAAGGAGTTTGTTGAATAGGTTAAACATTACTCTCTTAATTGTGCTAGCACAATTCATTTGCTGCCTTAGCAGCTCATCTCCCTACTGGGTAGAAGGAATGAGCATGGGCTTTGGAGCGAAACCCAGCCCTGCCAGTGTCTGCCTGTGCTGTGTGGCCTTAGGCAAGTTGCTCGTTGTCTCTGAGCCTTGGTTTCTTCATTCTGAGATGTGAGGAGAAGACCCCAGGGTCCACAGGCTTTTCTGGAGGATCTGGATGGCACATATTTATAAACCACAGATGTGTTGTCTGGGTGGGCAACTATTGCACCCACCTCCAAGTTCAGGCATTCCAGCCTGAGCAATCAGAAGTGGGGGGATCTGTACGTCTGGAGATAGGAGGCTATCCTTACCCCGCCAAGTAACTGCCTCTCTCTGTGTTTAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGTGAGGCCCAGGGGCCTGTGGGAGGGGTGGAACAGGACACCTAGCTAGGAGCCCCGGGAGCCAGGCTGAGTTGAAGGGGGCTGTGTTGAAGGGGCTAGGGCTCTGGAGGAAGGGTGTTTAAAAGGATGAGGGGCCAGGCTGTGGATTCAAGAGGCCTGCTCTGCCAGACAGCCCCCTGAGGATCTGGGGGTGAAGGGAGAGAGGGGCTGCTCACTGACATTTACAGAGCCATGCCCAGTGCCAACTGCCCGAGCCTGCCTTGGTACCGAACTAGAGAGCTTCTGGGTACCCAAGCAGGCTGATTGGAGAGGCAGGAGCACGAGAGACTGAGGCCCCCACTCCCCACTGCAGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATG	CTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGCCCAGTCCTTAGAGCGACCCTGAGGGGATGATGCCAGCAATGTCATTTAACAGGGGAAGAGACTGAGGCTGAGGGAGGTGACAGAGCTAGTACTTGGAGCAGCTGGGGGTTTTTTGTTTGTTTGTTTTTGAGACGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACTGCCACGCCCAGCTAATTTTTCATATTTCAGTAGAGACGGGATATCACCGTGTTGCCCAAGTTGGTCGCGAACTCCTGAGCTCAGGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGCTGGGGTTTTAATTGAGGTCTGTCTGGCACTAAAGCTGTGGATTGGTTGCTGGACACACACACACATGAGAAAGAGGGAGAGAGAAAGAAGTGTTCTTAGTTCTCATTTTATCTCAAAACCATAAAGCCCCAGCCAGAAGTCACTATCAGCCAAGAGGGATGGAGGGGGCGATGAGAGATGCAGAATGTCGTCCTTGATAACTAATCCTAACAAGAGTGAGATCACCTGGCTCCTTTAAATTTGACATATTAAGCAAAAGGCAAGCTTCGCTTTCCAGCACTGCTATTAAACCAAGTCAGGTTCCTGCTGAGCCTACTTTAATGAATAAGCTAAGCAGAGTTGATAATTGATGGCTGGCTATATCAGGGGACCCCTTCTGCTGGAAGGAGTTTGTTGAATAGGTTAAACATTACTCTCTTAATTGTGCTAGCACAATTCATTTGCTGCCTTAGCAGCTCATCTCCCTACTGGGTAGAAGGAATGAGCATGGGCTTTGGAGCGAAACCCAGCCCTGCCAGTGTCTGCCTGTGCTGTGTGGCCTTAGGCAAGTTGCTCGTTGTCTCTGAGCCTTGGTTTCTTCATTCTGAGATGTGAGGAGAAGACCCCAGGGTCCACAGGCTTTTCTGGAGGATCTGGATGGCACATATTTATAAACCACAGATGTGTTGTCTGGGTGGGCAACTATTGCACCCACCTCCAAGTTCAGGCATTCCAGCCTGAGCAATCAGAAGTGGGGGGATCTGTACGTCTGGAGATAGGAGGCTATCCTTACCCCGCCAAGTAACTGCCTCTCTCTGTGTTTAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGTGAGGCCCAGGGGCCTGTGGGAGGGGTGGAACAGGACACCTAGCTAGGAGCCCCGGGAGCCAGGCTGAGTTGAAGGGGGCTGTGTTGAAGGGGCTAGGGCTCTGGAGGAAGGGTGTTTAAAAGGATGAGGGGCCAGGCTGTGGATTCAAGAGGCCTGCTCTGCCAGACAGCCCCCTGAGGATCTGGGGGTGAAGGGAGAGAGGGGCTGCTCACTGACATTTACAGAGCCATGCCCAGTGCCAACTGCCCGAGCCTGCCTTGGTACCGAACTAGAGAGCTTCTGGGTACCCAAGCAGGCTGATTGGAGAGGCAGGAGCACGAGAGACTGAGGCCCCCACTCCCCACTGCAGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCC	pathogenic	4,684
Gene ALPL (alkaline phosphatase, biomineralization associated) variant at chromosome position 21563169 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Adult_hypophosphatasia']	CTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGAC	CTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACNN	pathogenic	4,702
Regarding the variant found on chromosome 1 at position 21563195 in gene ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, identify the disease(s).	pathogenic	CACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGG	CACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATG	pathogenic	4,705
Assess the variant on chromosome 1, position 21563203, impacting ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['Infantile_hypophosphatasia']	CCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAA	CCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAACGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAN	pathogenic	4,706
A genetic variant at chromosome 1, position 21563212, affecting gene ALPL (alkaline phosphatase, biomineralization associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).	pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Hypophosphatemia', 'Infantile_hypophosphatasia']	GGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCT	GGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCCATGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCT	pathogenic	4,710
Is the genetic variant on chromosome 1, position 21563221, gene ALPL (alkaline phosphatase, biomineralization associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?	pathogenic; ['Hypophosphatasia']	GCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACA	GCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACAN	pathogenic	4,713
The mutation in gene ALPL (alkaline phosphatase, biomineralization associated) at chromosome 1, position 21563236—clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Infantile_hypophosphatasia']	GTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGC	GTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCN	pathogenic	4,715
Variant in gene ALPL (alkaline phosphatase, biomineralization associated), located at chromosome 1 position 21563291: benign or pathogenic? What disease(s) does it cause if pathogenic?	benign	CTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCAC	CTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACN	benign	4,719
Variant chromosome 1, position 21564047, gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? Disease(s)?	pathogenic; ['Adult_hypophosphatasia']	TCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCC	TCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCN	pathogenic	4,725
The genetic variant at chromosome 1, position 21564085, affecting gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? Disease name(s) if pathogenic?	pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']	TATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAA	TATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAN	pathogenic	4,731
Determine whether the variant at chromosome 1, position 21564133, in gene ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).	pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia']	ATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATA	ATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATANNN	pathogenic	4,743
Chromosome 1, position 21564148, gene ALPL (alkaline phosphatase, biomineralization associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Infantile_hypophosphatasia']	CAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGT	CAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTNN	pathogenic	4,747
Evaluate the clinical significance of the mutation at chromosome 1, position 21568105 in gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['ALPL-related_disorder', 'Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']	CGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAAATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCTGGACCTCAGGTGATCCGCCCGTTTTGGCCTCCCAAAGTGCTGGCATTATAGGCGTGAGCCATCGCGCCCGGCCTATTTTATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTTCAGTCTCAGCCTCCTGGGCTCAAGTGCTCCTCCTGGCTCAGTCCCTTGAATAGCTAGGAGCACAAGCCTGTACCACCATGCCCGGCTAAGTTTCGAAACAAATTTTATTTGTATAGACAGGGTCTTGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGGCATCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGTCGCATTTTATGGATAGGAAAACTGGGCTCACAGAGTTTAGGTGGCAGGCCCTTGGTCAGTAGTCGATAGAGTCAGGGTTCAAACCCAAGTCTGACTTCAAAGCTCACGGCCATGACCATGGCCTGGACCCAGGCTGGTCCTGGGGCACCTTTCCCACCTCTCCAGCCATCCTGTGTTCCTGGCCCCCTGTGCATTCCACAAAACCTAGGATCTAAGGTGGGAGACAGAGTGGAGGATAGAGCAAGGGACCTATGAGATGCAGGCCTGGAATGGTGGATCTGGGGCCAGTGTCAGCCAGGCTCTGCACTCCCAAGGTGTCAGCCAGGGGCAGTGGCCCGGGCTGGCACCCGCGGTGACAAGAGAACACTAGTGTGGTGGTCACCGCAGGCGGCTGCTGTTATGCTCTTGGCCCTACTTTAAAAATAGTCAGAACTTCAAACATGGACTCCCAAGGAAAACAAACAGTCCCGCGTCCGTCTGCCCGCACACACCAGCTGGTGGGTAAAATTAGCCTGGTGGTGACTACAGAGCCGTGAGGCCCGGCCCCGCTGTTTGCCCAGGCTGCGGTGGGCTGGCTCCCAGCTGTGGGCTGCCCCAAAGACCTCCCTGGCTGGAGCCTCTCCCTGCACGCATTCAGCCTTCCACCGTGGGAGAGGAGGCTCTGGGAGTCCCTGCCCTTAGCTGCACGAATACAGCAGGGCCCTAGTGCCACAGCCGGAAAAGCCCTGGGTTTGAATCCTGATGCTGCCACTTCCTGGCTCTGTGGCCTTCGGGGGAAAAAACCAATTTCTGTGCCCATTTTTTTAGTTGGAAAACAGGTGGCCAGGGTTTATTGCAGCCTTGGTATGAAGTTGAGTCAGAATGTATCTTAAATGCTTAGTGCCTGACACACAGGGAACGCTCTGTAAATGGTCTGATTCTTATTCGAGTGGGAGTTCTGTGGATTCCGGGAAGCCAAGTAAGGTAAGTTATCAGCTCCTCCAATATCCCTAGAAGCGCCAAACCACCGTCCCAATAGACTCGTGATTTCATCTCCCCACGCTGGACAAGTAAGGCCCAGAGATGACTGAGGCCTGGCTCACCAGGCTGGGAAAGTGTCCACACCATCTCCAGGGACTCCAGGAGTCCAGGTTCCAAGCCGAGGTCACTGGGGCTTCTGGGCATCTTGGAACCCTGCAGAAGTGATGGCTCCTGTCTCTTTTAGGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGGTAGCCTGTGCTGGGGCCATGTGGCTGCAGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCA	CGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAAATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCTGGACCTCAGGTGATCCGCCCGTTTTGGCCTCCCAAAGTGCTGGCATTATAGGCGTGAGCCATCGCGCCCGGCCTATTTTATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTTCAGTCTCAGCCTCCTGGGCTCAAGTGCTCCTCCTGGCTCAGTCCCTTGAATAGCTAGGAGCACAAGCCTGTACCACCATGCCCGGCTAAGTTTCGAAACAAATTTTATTTGTATAGACAGGGTCTTGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGGCATCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGTCGCATTTTATGGATAGGAAAACTGGGCTCACAGAGTTTAGGTGGCAGGCCCTTGGTCAGTAGTCGATAGAGTCAGGGTTCAAACCCAAGTCTGACTTCAAAGCTCACGGCCATGACCATGGCCTGGACCCAGGCTGGTCCTGGGGCACCTTTCCCACCTCTCCAGCCATCCTGTGTTCCTGGCCCCCTGTGCATTCCACAAAACCTAGGATCTAAGGTGGGAGACAGAGTGGAGGATAGAGCAAGGGACCTATGAGATGCAGGCCTGGAATGGTGGATCTGGGGCCAGTGTCAGCCAGGCTCTGCACTCCCAAGGTGTCAGCCAGGGGCAGTGGCCCGGGCTGGCACCCGCGGTGACAAGAGAACACTAGTGTGGTGGTCACCGCAGGCGGCTGCTGTTATGCTCTTGGCCCTACTTTAAAAATAGTCAGAACTTCAAACATGGACTCCCAAGGAAAACAAACAGTCCCGCGTCCGTCTGCCCGCACACACCAGCTGGTGGGTAAAATTAGCCTGGTGGTGACTACAGAGCCGTGAGGCCCGGCCCCGCTGTTTGCCCAGGCTGCGGTGGGCTGGCTCCCAGCTGTGGGCTGCCCCAAAGACCTCCCTGGCTGGAGCCTCTCCCTGCACGCATTCAGCCTTCCACCGTGGGAGAGGAGGCTCTGGGAGTCCCTGCCCTTAGCTGCACGAATACAGCAGGGCCCTAGTGCCACAGCCGGAAAAGCCCTGGGTTTGAATCCTGATGCTGCCACTTCCTGGCTCTGTGGCCTTCGGGGGAAAAAACCAATTTCTGTGCCCATTTTTTTAGTTGGAAAACAGGTGGCCAGGGTTTATTGCAGCCTTGGTATGAAGTTGAGTCAGAATGTATCTTAAATGCTTAGTGCCTGACACACAGGGAACGCTCTGTAAATGGTCTGATTCTTATTCGAGTGGGAGTTCTGTGGATTCCGGGAAGCCAAGTAAGGTAAGTTATCAGCTCCTCCAATATCCCTAGAAGCGCCAAACCACCGTCCCAATAGACTCGTGATTTCATCTCCCCACGCTGGACAAGTAAGGCCCAGAGATGACTGAGGCCTGGCTCACCAGGCTGGGAAAGTGTCCACACCATCTCCAGGGACTCCAGGAGTCCAGGTTCCAAGCCGAGGTCACTGGGGCTTCTGGGCATCTTGGAACCCTGCAGAAGTGATGGCTCCTGTCTCTTTTAGGCTAAGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGGTAGCCTGTGCTGGGGCCATGTGGCTGCAGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCA	pathogenic	4,751
Is the variant located on chromosome 1 at position 21568111, gene ALPL (alkaline phosphatase, biomineralization associated), benign or pathogenic? If pathogenic, specify the disease(s) linked.	pathogenic; ['Adult_hypophosphatasia', 'Infantile_hypophosphatasia']	CTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAAATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCTGGACCTCAGGTGATCCGCCCGTTTTGGCCTCCCAAAGTGCTGGCATTATAGGCGTGAGCCATCGCGCCCGGCCTATTTTATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTTCAGTCTCAGCCTCCTGGGCTCAAGTGCTCCTCCTGGCTCAGTCCCTTGAATAGCTAGGAGCACAAGCCTGTACCACCATGCCCGGCTAAGTTTCGAAACAAATTTTATTTGTATAGACAGGGTCTTGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGGCATCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGTCGCATTTTATGGATAGGAAAACTGGGCTCACAGAGTTTAGGTGGCAGGCCCTTGGTCAGTAGTCGATAGAGTCAGGGTTCAAACCCAAGTCTGACTTCAAAGCTCACGGCCATGACCATGGCCTGGACCCAGGCTGGTCCTGGGGCACCTTTCCCACCTCTCCAGCCATCCTGTGTTCCTGGCCCCCTGTGCATTCCACAAAACCTAGGATCTAAGGTGGGAGACAGAGTGGAGGATAGAGCAAGGGACCTATGAGATGCAGGCCTGGAATGGTGGATCTGGGGCCAGTGTCAGCCAGGCTCTGCACTCCCAAGGTGTCAGCCAGGGGCAGTGGCCCGGGCTGGCACCCGCGGTGACAAGAGAACACTAGTGTGGTGGTCACCGCAGGCGGCTGCTGTTATGCTCTTGGCCCTACTTTAAAAATAGTCAGAACTTCAAACATGGACTCCCAAGGAAAACAAACAGTCCCGCGTCCGTCTGCCCGCACACACCAGCTGGTGGGTAAAATTAGCCTGGTGGTGACTACAGAGCCGTGAGGCCCGGCCCCGCTGTTTGCCCAGGCTGCGGTGGGCTGGCTCCCAGCTGTGGGCTGCCCCAAAGACCTCCCTGGCTGGAGCCTCTCCCTGCACGCATTCAGCCTTCCACCGTGGGAGAGGAGGCTCTGGGAGTCCCTGCCCTTAGCTGCACGAATACAGCAGGGCCCTAGTGCCACAGCCGGAAAAGCCCTGGGTTTGAATCCTGATGCTGCCACTTCCTGGCTCTGTGGCCTTCGGGGGAAAAAACCAATTTCTGTGCCCATTTTTTTAGTTGGAAAACAGGTGGCCAGGGTTTATTGCAGCCTTGGTATGAAGTTGAGTCAGAATGTATCTTAAATGCTTAGTGCCTGACACACAGGGAACGCTCTGTAAATGGTCTGATTCTTATTCGAGTGGGAGTTCTGTGGATTCCGGGAAGCCAAGTAAGGTAAGTTATCAGCTCCTCCAATATCCCTAGAAGCGCCAAACCACCGTCCCAATAGACTCGTGATTTCATCTCCCCACGCTGGACAAGTAAGGCCCAGAGATGACTGAGGCCTGGCTCACCAGGCTGGGAAAGTGTCCACACCATCTCCAGGGACTCCAGGAGTCCAGGTTCCAAGCCGAGGTCACTGGGGCTTCTGGGCATCTTGGAACCCTGCAGAAGTGATGGCTCCTGTCTCTTTTAGGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGGTAGCCTGTGCTGGGGCCATGTGGCTGCAGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTT	CTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAAATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCTGGACCTCAGGTGATCCGCCCGTTTTGGCCTCCCAAAGTGCTGGCATTATAGGCGTGAGCCATCGCGCCCGGCCTATTTTATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTTCAGTCTCAGCCTCCTGGGCTCAAGTGCTCCTCCTGGCTCAGTCCCTTGAATAGCTAGGAGCACAAGCCTGTACCACCATGCCCGGCTAAGTTTCGAAACAAATTTTATTTGTATAGACAGGGTCTTGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGGCATCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGTCGCATTTTATGGATAGGAAAACTGGGCTCACAGAGTTTAGGTGGCAGGCCCTTGGTCAGTAGTCGATAGAGTCAGGGTTCAAACCCAAGTCTGACTTCAAAGCTCACGGCCATGACCATGGCCTGGACCCAGGCTGGTCCTGGGGCACCTTTCCCACCTCTCCAGCCATCCTGTGTTCCTGGCCCCCTGTGCATTCCACAAAACCTAGGATCTAAGGTGGGAGACAGAGTGGAGGATAGAGCAAGGGACCTATGAGATGCAGGCCTGGAATGGTGGATCTGGGGCCAGTGTCAGCCAGGCTCTGCACTCCCAAGGTGTCAGCCAGGGGCAGTGGCCCGGGCTGGCACCCGCGGTGACAAGAGAACACTAGTGTGGTGGTCACCGCAGGCGGCTGCTGTTATGCTCTTGGCCCTACTTTAAAAATAGTCAGAACTTCAAACATGGACTCCCAAGGAAAACAAACAGTCCCGCGTCCGTCTGCCCGCACACACCAGCTGGTGGGTAAAATTAGCCTGGTGGTGACTACAGAGCCGTGAGGCCCGGCCCCGCTGTTTGCCCAGGCTGCGGTGGGCTGGCTCCCAGCTGTGGGCTGCCCCAAAGACCTCCCTGGCTGGAGCCTCTCCCTGCACGCATTCAGCCTTCCACCGTGGGAGAGGAGGCTCTGGGAGTCCCTGCCCTTAGCTGCACGAATACAGCAGGGCCCTAGTGCCACAGCCGGAAAAGCCCTGGGTTTGAATCCTGATGCTGCCACTTCCTGGCTCTGTGGCCTTCGGGGGAAAAAACCAATTTCTGTGCCCATTTTTTTAGTTGGAAAACAGGTGGCCAGGGTTTATTGCAGCCTTGGTATGAAGTTGAGTCAGAATGTATCTTAAATGCTTAGTGCCTGACACACAGGGAACGCTCTGTAAATGGTCTGATTCTTATTCGAGTGGGAGTTCTGTGGATTCCGGGAAGCCAAGTAAGGTAAGTTATCAGCTCCTCCAATATCCCTAGAAGCGCCAAACCACCGTCCCAATAGACTCGTGATTTCATCTCCCCACGCTGGACAAGTAAGGCCCAGAGATGACTGAGGCCTGGCTCACCAGGCTGGGAAAGTGTCCACACCATCTCCAGGGACTCCAGGAGTCCAGGTTCCAAGCCGAGGTCACTGGGGCTTCTGGGCATCTTGGAACCCTGCAGAAGTGATGGCTCCTGTCTCTTTTAGGTGATCATGGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGGTAGCCTGTGCTGGGGCCATGTGGCTGCAGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCT	pathogenic	4,754
Determine if the mutation at chromosome 1, position 21568111 in gene ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. If pathogenic, what disease(s) is associated?	pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia']	CTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAAATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCTGGACCTCAGGTGATCCGCCCGTTTTGGCCTCCCAAAGTGCTGGCATTATAGGCGTGAGCCATCGCGCCCGGCCTATTTTATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTTCAGTCTCAGCCTCCTGGGCTCAAGTGCTCCTCCTGGCTCAGTCCCTTGAATAGCTAGGAGCACAAGCCTGTACCACCATGCCCGGCTAAGTTTCGAAACAAATTTTATTTGTATAGACAGGGTCTTGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGGCATCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGTCGCATTTTATGGATAGGAAAACTGGGCTCACAGAGTTTAGGTGGCAGGCCCTTGGTCAGTAGTCGATAGAGTCAGGGTTCAAACCCAAGTCTGACTTCAAAGCTCACGGCCATGACCATGGCCTGGACCCAGGCTGGTCCTGGGGCACCTTTCCCACCTCTCCAGCCATCCTGTGTTCCTGGCCCCCTGTGCATTCCACAAAACCTAGGATCTAAGGTGGGAGACAGAGTGGAGGATAGAGCAAGGGACCTATGAGATGCAGGCCTGGAATGGTGGATCTGGGGCCAGTGTCAGCCAGGCTCTGCACTCCCAAGGTGTCAGCCAGGGGCAGTGGCCCGGGCTGGCACCCGCGGTGACAAGAGAACACTAGTGTGGTGGTCACCGCAGGCGGCTGCTGTTATGCTCTTGGCCCTACTTTAAAAATAGTCAGAACTTCAAACATGGACTCCCAAGGAAAACAAACAGTCCCGCGTCCGTCTGCCCGCACACACCAGCTGGTGGGTAAAATTAGCCTGGTGGTGACTACAGAGCCGTGAGGCCCGGCCCCGCTGTTTGCCCAGGCTGCGGTGGGCTGGCTCCCAGCTGTGGGCTGCCCCAAAGACCTCCCTGGCTGGAGCCTCTCCCTGCACGCATTCAGCCTTCCACCGTGGGAGAGGAGGCTCTGGGAGTCCCTGCCCTTAGCTGCACGAATACAGCAGGGCCCTAGTGCCACAGCCGGAAAAGCCCTGGGTTTGAATCCTGATGCTGCCACTTCCTGGCTCTGTGGCCTTCGGGGGAAAAAACCAATTTCTGTGCCCATTTTTTTAGTTGGAAAACAGGTGGCCAGGGTTTATTGCAGCCTTGGTATGAAGTTGAGTCAGAATGTATCTTAAATGCTTAGTGCCTGACACACAGGGAACGCTCTGTAAATGGTCTGATTCTTATTCGAGTGGGAGTTCTGTGGATTCCGGGAAGCCAAGTAAGGTAAGTTATCAGCTCCTCCAATATCCCTAGAAGCGCCAAACCACCGTCCCAATAGACTCGTGATTTCATCTCCCCACGCTGGACAAGTAAGGCCCAGAGATGACTGAGGCCTGGCTCACCAGGCTGGGAAAGTGTCCACACCATCTCCAGGGACTCCAGGAGTCCAGGTTCCAAGCCGAGGTCACTGGGGCTTCTGGGCATCTTGGAACCCTGCAGAAGTGATGGCTCCTGTCTCTTTTAGGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGGTAGCCTGTGCTGGGGCCATGTGGCTGCAGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTT	CTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAAATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCTGGACCTCAGGTGATCCGCCCGTTTTGGCCTCCCAAAGTGCTGGCATTATAGGCGTGAGCCATCGCGCCCGGCCTATTTTATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTTCAGTCTCAGCCTCCTGGGCTCAAGTGCTCCTCCTGGCTCAGTCCCTTGAATAGCTAGGAGCACAAGCCTGTACCACCATGCCCGGCTAAGTTTCGAAACAAATTTTATTTGTATAGACAGGGTCTTGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGGCATCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGTCGCATTTTATGGATAGGAAAACTGGGCTCACAGAGTTTAGGTGGCAGGCCCTTGGTCAGTAGTCGATAGAGTCAGGGTTCAAACCCAAGTCTGACTTCAAAGCTCACGGCCATGACCATGGCCTGGACCCAGGCTGGTCCTGGGGCACCTTTCCCACCTCTCCAGCCATCCTGTGTTCCTGGCCCCCTGTGCATTCCACAAAACCTAGGATCTAAGGTGGGAGACAGAGTGGAGGATAGAGCAAGGGACCTATGAGATGCAGGCCTGGAATGGTGGATCTGGGGCCAGTGTCAGCCAGGCTCTGCACTCCCAAGGTGTCAGCCAGGGGCAGTGGCCCGGGCTGGCACCCGCGGTGACAAGAGAACACTAGTGTGGTGGTCACCGCAGGCGGCTGCTGTTATGCTCTTGGCCCTACTTTAAAAATAGTCAGAACTTCAAACATGGACTCCCAAGGAAAACAAACAGTCCCGCGTCCGTCTGCCCGCACACACCAGCTGGTGGGTAAAATTAGCCTGGTGGTGACTACAGAGCCGTGAGGCCCGGCCCCGCTGTTTGCCCAGGCTGCGGTGGGCTGGCTCCCAGCTGTGGGCTGCCCCAAAGACCTCCCTGGCTGGAGCCTCTCCCTGCACGCATTCAGCCTTCCACCGTGGGAGAGGAGGCTCTGGGAGTCCCTGCCCTTAGCTGCACGAATACAGCAGGGCCCTAGTGCCACAGCCGGAAAAGCCCTGGGTTTGAATCCTGATGCTGCCACTTCCTGGCTCTGTGGCCTTCGGGGGAAAAAACCAATTTCTGTGCCCATTTTTTTAGTTGGAAAACAGGTGGCCAGGGTTTATTGCAGCCTTGGTATGAAGTTGAGTCAGAATGTATCTTAAATGCTTAGTGCCTGACACACAGGGAACGCTCTGTAAATGGTCTGATTCTTATTCGAGTGGGAGTTCTGTGGATTCCGGGAAGCCAAGTAAGGTAAGTTATCAGCTCCTCCAATATCCCTAGAAGCGCCAAACCACCGTCCCAATAGACTCGTGATTTCATCTCCCCACGCTGGACAAGTAAGGCCCAGAGATGACTGAGGCCTGGCTCACCAGGCTGGGAAAGTGTCCACACCATCTCCAGGGACTCCAGGAGTCCAGGTTCCAAGCCGAGGTCACTGGGGCTTCTGGGCATCTTGGAACCCTGCAGAAGTGATGGCTCCTGTCTCTTTTAGGTGATCATGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGGTAGCCTGTGCTGGGGCCATGTGGCTGCAGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTTN	pathogenic	4,755
Mutation found at chromosome 1 position 21570324, gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s).	pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia']	AGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTTGAGGTCAGGGATGGTGGGTCCTCAGGGAGAGATTTTTAAGTGAGGGAAGGAAACAAGTAAAGGCCTCAGACTCTGATAGCTGCTGGGGTCAGTCCTTCCGACTCTCCCTAGCCCCCGGCATGTGCTGACACAGCCCTTCCTCCTAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTAAGTGGAGGGGGTGGAGGGGAGGATGCATGGCTCGGAGCCTGGTGGCCGGAGCTGCGTGTGGCCAGCACCTGGGGACAAGGCCCTAGCCTGACGCCCACTTAGGGGCCTCTGCTCTTGGGCTTCAGGACCTGGGAGAGGCAAGGAAGGGGGTTCTGGTTCCTGGAATTAGGCCTGAAATCTGCTGGCTGTGCAGGGGGATTAGCCTCATTGGGCACAAGAAGAAACTGAAGCTCAGAGAGGGGAGTGGCCCGCGGCATGTGGCACAAGTGACAGCGGTACGGCCCAGGCAAGTTTGAGCCCTGGCTGGGAACTGGGACTTAACAGCTCCTGGGCTATGGAGCCTGGGACCTGGAGTCAGCTCTACTGTGTGCATGGCCAGGGCAGAAGCCAGCCAAGTTATCTCTGCCCATCCTGACGATTGCCCTCCTCCCCAGGCAGTGGGGAGCATGTGGTGAGGGCCCAGGGGCAGCTTCAGGTCTGGTGGGATGCAGCCCTGAGCACCACCATGCAGCTATCCGGGTTTTCTTTTCCAGCTGTCTGTAGTGCCAAGCAAGTGGTGGCAAAATCTCCTGCAGACATTTCCCAAGGAACACAGCTCCGCGTCCTGGGTGTCATTAGAGGTTATGGGCTCAGAGCTGTGCACCTGGTGGGTCCTCCAGACACATGCACACAGCCTCTTGCTTGCCTGGGTCACATGGCACACACCCAGTACCACATGGGCTGTGCATGCACCCGTGTATCATGCTGGTTTTGCTCATGGATCTTAGAGCCAGAGTGCTGGGTTCAAATCCAGCTCTACCACCTCTAAGCTGTGTGACCTTGGGCAAGTGATTTCTCCTCTTTCTGCCTCAGTTTCCTCTTCTATAAAGTAGGGATAATGATGCTCCCATAAAATGGAGATAGTGATGGGGCTGGAGACAACCCCTGGGTTGTCATGAGCATGACATGAACTTGTGTTGTATAAGTTATCTGTTGCTGTATAACAAATTATCTCAAAACTTAGGCCAGGTGCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAGCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACGAGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTATGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTA	AGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTTGAGGTCAGGGATGGTGGGTCCTCAGGGAGAGATTTTTAAGTGAGGGAAGGAAACAAGTAAAGGCCTCAGACTCTGATAGCTGCTGGGGTCAGTCCTTCCGACTCTCCCTAGCCCCCGGCATGTGCTGACACAGCCCTTCCTCCTAGCACTCCCACTTCATCTGGAACGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTAAGTGGAGGGGGTGGAGGGGAGGATGCATGGCTCGGAGCCTGGTGGCCGGAGCTGCGTGTGGCCAGCACCTGGGGACAAGGCCCTAGCCTGACGCCCACTTAGGGGCCTCTGCTCTTGGGCTTCAGGACCTGGGAGAGGCAAGGAAGGGGGTTCTGGTTCCTGGAATTAGGCCTGAAATCTGCTGGCTGTGCAGGGGGATTAGCCTCATTGGGCACAAGAAGAAACTGAAGCTCAGAGAGGGGAGTGGCCCGCGGCATGTGGCACAAGTGACAGCGGTACGGCCCAGGCAAGTTTGAGCCCTGGCTGGGAACTGGGACTTAACAGCTCCTGGGCTATGGAGCCTGGGACCTGGAGTCAGCTCTACTGTGTGCATGGCCAGGGCAGAAGCCAGCCAAGTTATCTCTGCCCATCCTGACGATTGCCCTCCTCCCCAGGCAGTGGGGAGCATGTGGTGAGGGCCCAGGGGCAGCTTCAGGTCTGGTGGGATGCAGCCCTGAGCACCACCATGCAGCTATCCGGGTTTTCTTTTCCAGCTGTCTGTAGTGCCAAGCAAGTGGTGGCAAAATCTCCTGCAGACATTTCCCAAGGAACACAGCTCCGCGTCCTGGGTGTCATTAGAGGTTATGGGCTCAGAGCTGTGCACCTGGTGGGTCCTCCAGACACATGCACACAGCCTCTTGCTTGCCTGGGTCACATGGCACACACCCAGTACCACATGGGCTGTGCATGCACCCGTGTATCATGCTGGTTTTGCTCATGGATCTTAGAGCCAGAGTGCTGGGTTCAAATCCAGCTCTACCACCTCTAAGCTGTGTGACCTTGGGCAAGTGATTTCTCCTCTTTCTGCCTCAGTTTCCTCTTCTATAAAGTAGGGATAATGATGCTCCCATAAAATGGAGATAGTGATGGGGCTGGAGACAACCCCTGGGTTGTCATGAGCATGACATGAACTTGTGTTGTATAAGTTATCTGTTGCTGTATAACAAATTATCTCAAAACTTAGGCCAGGTGCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAGCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACGAGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTATGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTAN	pathogenic	4,775
Does the variant on chromosome 1 at location 21570348 affecting gene ALPL (alkaline phosphatase, biomineralization associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	pathogenic; ['Infantile_hypophosphatasia']	GCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTTGAGGTCAGGGATGGTGGGTCCTCAGGGAGAGATTTTTAAGTGAGGGAAGGAAACAAGTAAAGGCCTCAGACTCTGATAGCTGCTGGGGTCAGTCCTTCCGACTCTCCCTAGCCCCCGGCATGTGCTGACACAGCCCTTCCTCCTAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTAAGTGGAGGGGGTGGAGGGGAGGATGCATGGCTCGGAGCCTGGTGGCCGGAGCTGCGTGTGGCCAGCACCTGGGGACAAGGCCCTAGCCTGACGCCCACTTAGGGGCCTCTGCTCTTGGGCTTCAGGACCTGGGAGAGGCAAGGAAGGGGGTTCTGGTTCCTGGAATTAGGCCTGAAATCTGCTGGCTGTGCAGGGGGATTAGCCTCATTGGGCACAAGAAGAAACTGAAGCTCAGAGAGGGGAGTGGCCCGCGGCATGTGGCACAAGTGACAGCGGTACGGCCCAGGCAAGTTTGAGCCCTGGCTGGGAACTGGGACTTAACAGCTCCTGGGCTATGGAGCCTGGGACCTGGAGTCAGCTCTACTGTGTGCATGGCCAGGGCAGAAGCCAGCCAAGTTATCTCTGCCCATCCTGACGATTGCCCTCCTCCCCAGGCAGTGGGGAGCATGTGGTGAGGGCCCAGGGGCAGCTTCAGGTCTGGTGGGATGCAGCCCTGAGCACCACCATGCAGCTATCCGGGTTTTCTTTTCCAGCTGTCTGTAGTGCCAAGCAAGTGGTGGCAAAATCTCCTGCAGACATTTCCCAAGGAACACAGCTCCGCGTCCTGGGTGTCATTAGAGGTTATGGGCTCAGAGCTGTGCACCTGGTGGGTCCTCCAGACACATGCACACAGCCTCTTGCTTGCCTGGGTCACATGGCACACACCCAGTACCACATGGGCTGTGCATGCACCCGTGTATCATGCTGGTTTTGCTCATGGATCTTAGAGCCAGAGTGCTGGGTTCAAATCCAGCTCTACCACCTCTAAGCTGTGTGACCTTGGGCAAGTGATTTCTCCTCTTTCTGCCTCAGTTTCCTCTTCTATAAAGTAGGGATAATGATGCTCCCATAAAATGGAGATAGTGATGGGGCTGGAGACAACCCCTGGGTTGTCATGAGCATGACATGAACTTGTGTTGTATAAGTTATCTGTTGCTGTATAACAAATTATCTCAAAACTTAGGCCAGGTGCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAGCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACGAGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTATGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATT	GCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTTGAGGTCAGGGATGGTGGGTCCTCAGGGAGAGATTTTTAAGTGAGGGAAGGAAACAAGTAAAGGCCTCAGACTCTGATAGCTGCTGGGGTCAGTCCTTCCGACTCTCCCTAGCCCCCGGCATGTGCTGACACAGCCCTTCCTCCTAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCACAATGTGGACTACCTATTGGGTAAGTGGAGGGGGTGGAGGGGAGGATGCATGGCTCGGAGCCTGGTGGCCGGAGCTGCGTGTGGCCAGCACCTGGGGACAAGGCCCTAGCCTGACGCCCACTTAGGGGCCTCTGCTCTTGGGCTTCAGGACCTGGGAGAGGCAAGGAAGGGGGTTCTGGTTCCTGGAATTAGGCCTGAAATCTGCTGGCTGTGCAGGGGGATTAGCCTCATTGGGCACAAGAAGAAACTGAAGCTCAGAGAGGGGAGTGGCCCGCGGCATGTGGCACAAGTGACAGCGGTACGGCCCAGGCAAGTTTGAGCCCTGGCTGGGAACTGGGACTTAACAGCTCCTGGGCTATGGAGCCTGGGACCTGGAGTCAGCTCTACTGTGTGCATGGCCAGGGCAGAAGCCAGCCAAGTTATCTCTGCCCATCCTGACGATTGCCCTCCTCCCCAGGCAGTGGGGAGCATGTGGTGAGGGCCCAGGGGCAGCTTCAGGTCTGGTGGGATGCAGCCCTGAGCACCACCATGCAGCTATCCGGGTTTTCTTTTCCAGCTGTCTGTAGTGCCAAGCAAGTGGTGGCAAAATCTCCTGCAGACATTTCCCAAGGAACACAGCTCCGCGTCCTGGGTGTCATTAGAGGTTATGGGCTCAGAGCTGTGCACCTGGTGGGTCCTCCAGACACATGCACACAGCCTCTTGCTTGCCTGGGTCACATGGCACACACCCAGTACCACATGGGCTGTGCATGCACCCGTGTATCATGCTGGTTTTGCTCATGGATCTTAGAGCCAGAGTGCTGGGTTCAAATCCAGCTCTACCACCTCTAAGCTGTGTGACCTTGGGCAAGTGATTTCTCCTCTTTCTGCCTCAGTTTCCTCTTCTATAAAGTAGGGATAATGATGCTCCCATAAAATGGAGATAGTGATGGGGCTGGAGACAACCCCTGGGTTGTCATGAGCATGACATGAACTTGTGTTGTATAAGTTATCTGTTGCTGTATAACAAATTATCTCAAAACTTAGGCCAGGTGCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAGCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACGAGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTATGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTN	pathogenic	4,780
Mutation at chromosome 1, position 21573677, within ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, indicate the disease(s).	pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Infantile_hypophosphatasia']	ACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGT	ACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCCATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTNNNNNN	pathogenic	4,798
Is the chromosome 1, position 21573703 variant in ALPL (alkaline phosphatase, biomineralization associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?	pathogenic; ['Infantile_hypophosphatasia']	GAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACG	GAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGN	pathogenic	4,804
Mutation at chromosome 1, position 21573726, within ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, indicate the disease(s).	pathogenic; ['Adult_hypophosphatasia', 'Infantile_hypophosphatasia']	AAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAG	AAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGNN	pathogenic	4,806
Assess the variant on chromosome 1, position 21573763, impacting ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['Adult_hypophosphatasia', 'Infantile_hypophosphatasia']	TGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCA	TGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCAN	pathogenic	4,808
Chromosome 1, position 21573779, gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?	pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Inborn_genetic_diseases', 'Infantile_hypophosphatasia', 'Osteogenesis_imperfecta', 'likely other unspecified diseases']	TGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAG	TGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGNNN	pathogenic	4,811
Determine whether the variant at chromosome 1, position 21575749, in gene ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).	pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']	ACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCAC	ACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCA	pathogenic	4,829
Determine whether the variant at chromosome 1, position 21575813, in gene ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).	pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']	GAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCC	GAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGC	pathogenic	4,839
Evaluate the clinical significance of the mutation at chromosome 1, position 21575831 in gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']	CTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGC	CTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCNNN	pathogenic	4,840
Variant in ALPL (alkaline phosphatase, biomineralization associated), chromosome 1, position 21575846—is this benign or pathogenic? If pathogenic, what disease(s) is linked?	pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Decreased_circulating_alkaline_phosphatase_activity', 'Infantile_hypophosphatasia']	AGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTT	AGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTNN	pathogenic	4,841
Evaluate if the mutation on chromosome 1 at position 21575900 in ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. Disease name(s) if pathogenic?	pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Infantile_hypophosphatasia']	TCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTT	TCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTT	pathogenic	4,853
Variant at chromosome position 21575900, chromosome 1, gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to?	pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']	TCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTT	TCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTN	pathogenic	4,854
Considering the genetic mutation at chromosome 1, position 21575913, impacting ALPL (alkaline phosphatase, biomineralization associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']	GTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTA	GTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTANN	pathogenic	4,858
Regarding the variant found on chromosome 1 at position 21575916 in gene ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, identify the disease(s).	pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia']	CAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTT	CAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATT	pathogenic	4,859
Is the genetic variant on chromosome 1, position 21577543, gene ALPL (alkaline phosphatase, biomineralization associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?	pathogenic; ['ALPL-related_disorder', 'Adult_hypophosphatasia', 'Hypophosphatasia']	GGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGT	GGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTN	pathogenic	4,905
Evaluate if the mutation on chromosome 1 at position 21577623 in ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. Disease name(s) if pathogenic?	pathogenic; ['Hypophosphatasia', 'Infantile_hypophosphatasia']	AAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACA	AAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACANNNNNNNNNNNNNNNN	pathogenic	4,913
Assess the variant on chromosome 1, position 21577631, impacting ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']	AGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACAATTAACAC	AGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACAATTAACACN	pathogenic	4,914
Considering the genetic mutation at chromosome 1, position 21577769, impacting ALPL (alkaline phosphatase, biomineralization associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.	benign	TGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACAATTAACACTGATCATTTACAACATGCCAGGTCTGTGCTTGACGCTTTATGTGGATTCATTGCATTTAATCCTCATTAGGAAATAGGCCCCCATCATCCACATGTATAGGTGAGGACCCTGAGGGTTTGGGAAGTGAGGTGATTGCC	TGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACAATTAACACTGATCATTTACAACATGCCAGGTCTGTGCTTGACGCTTTATGTGGATTCATTGCATTTAATCCTCATTAGGAAATAGGCCCCCATCATCCACATGTATAGGTGAGGACCCTGAGGGTTTGGGAAGTGAGGTGATTGCCN	benign	4,919
The mutation impacting ALPL (alkaline phosphatase, biomineralization associated) on chromosome 1 at position 21578333: benign or pathogenic? Name the associated disease(s) if pathogenic.	benign	GGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACAATTAACACTGATCATTTACAACATGCCAGGTCTGTGCTTGACGCTTTATGTGGATTCATTGCATTTAATCCTCATTAGGAAATAGGCCCCCATCATCCACATGTATAGGTGAGGACCCTGAGGGTTTGGGAAGTGAGGTGATTGCCCAAATGCCCCCAAGCTGTGGAGCTGGTATTTGAAGCCAGGTGTGTCCTATTCCAAAGCTCCTGTACTTAATACCATCCTTTATTTGGTTATAACACACTTCAAACCTCTTGTCAACCAGGTCCTGAAGCAGACAATACTAATGACTCATGACATACACCAGTTAAATATAAACTCAGGAAGATGAGAAACCGTATGTCAGAAGTGGACTTCTTCAGGATTGAAAATGCAAACTAAGCAGATTTGTCTCTGAGCTTCCTAGCAGTCCTGACAAAAAAAAGGGAAGCACAGCCAAGCTGACACTGGGATAAAAGATGAAACTATAGGCCAGGCACAACGGTGCATACCTGTAATCCCAGCACTTCGAAAAGCTGAGGTGGGAGGATTGCTTGAGGGCAGGAGTTCAATACCAACCTGGGCAACATAGCGAGACCCTGTCTCTACAAAAAATAAAAAAATTAGCCAGGTATGGTGATATGTGCCTGTAATCTAGCTACTTGGGAGGCTGAGGCGGGAGGATCACTAGAGCCCAGGAGTTAGAGGCTGCAGTGAGCTATGATCATGCC	GGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACAATTAACACTGATCATTTACAACATGCCAGGTCTGTGCTTGACGCTTTATGTGGATTCATTGCATTTAATCCTCATTAGGAAATAGGCCCCCATCATCCACATGTATAGGTGAGGACCCTGAGGGTTTGGGAAGTGAGGTGATTGCCCAAATGCCCCCAAGCTGTGGAGCTGGTATTTGAAGCCAGGTGTGTCCTATTCCAAAGCTCCTGTACTTAATACCATCCTTTATTTGGTTATAACACACTTCAAACCTCTTGTCAACCAGGTCCTGAAGCAGACAATACTAATGACTCATGACATACACCAGTTAAATATAAACTCAGGAAGATGAGAAACCGTATGTCAGAAGTGGACTTCTTCAGGATTGAAAATGCAAACTAAGCAGATTTGTCTCTGAGCTTCCTAGCAGTCCTGACAAAAAAAAGGGAAGCACAGCCAAGCTGACACTGGGATAAAAGATGAAACTATAGGCCAGGCACAACGGTGCATACCTGTAATCCCAGCACTTCGAAAAGCTGAGGTGGGAGGATTGCTTGAGGGCAGGAGTTCAATACCAACCTGGGCAACATAGCGAGACCCTGTCTCTACAAAAAATAAAAAAATTAGCCAGGTATGGTGATATGTGCCTGTAATCTAGCTACTTGGGAGGCTGAGGCGGGAGGATCACTAGAGCCCAGGAGTTAGAGGCTGCAGTGAGCTATGATCATGC	benign	4,926
Considering the variant on chromosome 1, location 21841292, involving gene HSPG2 (heparan sulfate proteoglycan 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?	benign	CAGGCTCCAGGACCCTGCAGCGCCTGGAGACCTCTGGATGGGGTTCCTGGGGTTCTGTGTGGGGTGGAGCCTAGTCGGGGGGCTCAGATCTCCATTTGGTGCAGACAAAGAAGGGATGAGGCCTTACTCTCCACGTGCAGGATGATGGTGGCCTCAGCGTGCCCAGCAGGGCTAGTGGCATTGCAGATGTACTGGCCCGAGTCCTGCTGGGCTACCCGGGGTATGATGAGTGTGTCACCTTCCAGCCGGTGCTGCCAGGGCAGTGGGGAACGCAGCTTGGACCAGTGGATGGTGGGCGCGGGGCTGCCTGTGGAGTCGAGTGGAAGATGACAGAAGTCACTGGGCTACCTCAGGGACCCGCAGAGGGTGGCCATGGTGAGGAAGGGCCCTGGGTGATCCTGTCCCTCTATGGGGACCCCAGTTGGGTTCCTCGGCCATCACTGGGGGATGCTAGCAACACGGTCTCCCCGTACTCCCCACCCCTGGGCATGACATCATCTCTAGATCACATGTGTCTACATTTCAGACCCCAGGGCATCCCTGCCCTGCCAGCCCTATGTGCCAGCCCTTGGTCACACCTGTGGCTGAGCAGCGCAAGGTGGCCGTGTGTCCAGCCTCCACAGTCAGCTCAGCTTCTTCAGCTTGGACCTGAGGGGCCCCTGGGGCCATGGCGCCCGTGTCCACGATCACCTCCACCTGCTTCTGTGCTGTGCCTAGTGCATTCTGAGCAAGGCACACATAAGTGCCCGCATCTGATGGTTTAGCTGATGAAATCTGGGAGAAAGCAAGGAGGCTGGTTATGTGGGGACTCAGTGGGGACGCTGATGTCAGCCCCAGCTCTGGCTTGGTCTTCCCTATTTCCTCTACCCTGCCTTGGTATCTATTTATTTACTTATTTATATATTTATTTTTTGAGACAGGGTCTTACTCTGTCGCACAGGTTGGAGTGCAGTGGCACCATCTGGCTCATTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCTCGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTATGTGCCACCACACTCAGCTAATTTTGTTTGTTTGTTTGTTTTTTGAGGGTCTTGCTCTGTCACCCAGGCTGCAGTGCTGTGGCACGATCTCTGCTCACTGAAAGCTCTACCTCCCAGGTTCACATCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGCACCCGCCATCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAATTGCTAGGATTACAGGTGTGAGCCACTGCACCCAGCCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACTTTGGCCTCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATCTTCCTGCCTCAGCCTCTCCAAGTGCTGGGATTACAGGCACGTGCCACCATGCCTGGCCCTTTCCTTGGTTTTTAGCTGTCCCATCTGGTTGCTTGAGGGCTCACCCTCATGACACCCCATTAGTCCATCCATCCACTTGGCCTTCGACCCACCCTCCCACTCATTCTTTCTTCCTTCTCCTACCTTCCTTCTCTCTTCCCTCTCATCTTCCAGTCTATTCGTCATCCACCCATCCCATCCCATTCCTCCCTTCCTCTCTCCATCCACTCATCACCACCTGCCCATCCACTACTATCTCCTCCAAGCACCCGCTCAAGGCTGGGCCATGGACTGGGCCTCAGACCCAGAGAGGCAGCCCCGGCTTCACCTGCAGCACCGCGTGGCTGTCCATGAGCCCATATGTCCGCTGCTCCAACTTGGCAGGGGTGCTGCTGATCCGGGTCCAACGAGCAGAGGAGCGGGGCTCCCCGGCACTGACACACTCCAGGGTGACAGCCTTTCCCACTTTCACCCACACGGGGCCCTCGGGGAGCACGGACACTGTAGGGGGCCCTGTGCGGAGGAATGACAACCACTGACACACAGGCAGGGCTCTGCTGCTCACCCACACTGCCATGGCCTCCAGCTTAGTAACTGCTGGGTGGGCACCTGTCTCCCCACTGCACTGAGGTGGAAACTGAGGCTCAGAGAGGGAGAATGCCCAAGACAGAGTCAATGGTGGAAGGAGGATTTAAACTTGGAGGCTCTGAGCTGAGAATCAGGGCTGGAAACAGGGCAGAGCCCCACAGGGTCAACGTCCCCTCACCGTGCACACTGAGGTTCACCACACTCTGGGCCACACCGTAGGCATTGGAGGCCACGCAGCGGTAGGTACCGTGGTTGCTGGGCCGGGTGCCCACGATGGTGATGATGGAGCCATTGGGACTGATGTGGACGTTGTCTGTGAGGTTGCATGGGGGAGGGTGAGAGAGGATTGACCTGGTCCTTCTCGTGTCTTGGTGCTGCCAGCCTGTGCCCCTGGGCCCACTTCCCCAATCCCTCCGGCCTGGGTGTGTCTAGCTCATGGAGTCGCAGATAGCAGAAAGTAACAAAGGCCTTGGAAACTCCTGGGTCCAGCGCTCTTGCCATACAGAGACGGGAAGGGCCTTACTCAGGGCCACACCATGAATGTGGGGCGTCCAGACTTCTGCCCCACCCTTGCACAGTGGGGATGACGGCACCCCCATGCCTGCCCCCAGCTTGCCCACCTGCCCACCAGCCTGGCTCACCCTCCAGCTCCTGGTTCCGGGTCTTCCACTCGAGGCTGATGGGGGCTGCCCCGTCATGGATGAGGCACTTGAAGCTGGCATCCTGGCCCTGCTGCACGGTGCTGCTGGGCGGGTCGATGGAGATGACCGGGCTCCTAAGGCCTGGGGCCAAAGGGGCAGAGGGCTGGGCTCAGCAGGGGTGGGCTTAGCTTCAGGGCCCTCCCTTCCCCCCTTGCCCATGGCATCTGCCATACTCACGGTAGGAAGACCCCTCACTGGGCGGGACGGTGACTGTGAAGGAGGCTTCTTGCTCAGGGCCTGGGCCGCTGGCTGCACGACACACATACTCGCCTGAGTCGGCAGGGGAGACGAGGTGGAGCCGCAGCTGGGAGCCATGGGTCTGTCAGAGCAGCGAGGGGACAGTTATCAGGGCAAAGTCCCCAGGACAAGGAATGTCCCCAAGCCCAACTGTGCCGGTACCCAAGAGTTCTCTCGGAAGCTCAGGGTCTCAGCTGGTAGGGCTGGTGGAAGCTTCATTCACAGAATCCTAGAGGTCCAACCCACTCACTTTACAGTGGAGGAAACTGAGGCCCAGGAAAGGATTCAGCTGCAGAGCCAAGAGAAAAACCCAGGTCTCCTGATTTGCAGGCTGGTGAACTCGTCCCGCAAACGTATTTTATCCCCTGGGGTCCCCAAGCAGGCTGGTGTTTGCATGAGGTTTGGGTACAGAAAGCAACTGCAGGTCTAACCTTGCCTGACCTGGAATCCTCCCCATCCTGGCCCCTGTACCTGGTGCCGGGCGGGGAGGCTGCCCCCGCGCTTGTACCACGTGACCTGGGCATGGGCCTGCCCGGGCACCACACAGTTCAGATCCAGAGTCTGCCCTTCAGTCACGTGTGAAGAGGAGGCCTCGATGTAGATGGGCTGGGCCAGTCCTGGAGCTGTGGGCACAGGGGGTGGGTGAGAGAGGCCAGGCTCCGGGGATCAAGGCAGGGGCTGAAGGTGGTGGCAGTGAAGACCAGCTCCAGTTGATCCTGGGGGCGCGGTGGCTTGAGAGTGGCTGATATAACCTAAGAAGGGTCTCCTTTCCCTGGGGACTCAAGGGTCCTCCTGAAACTCAGGGCTGGGGTCCCCCTGGTTGAGGGGACGGGACCATTGTCAGACTTGGGAACACCTGGGTTGGCTTGATCCTCCGTGGTAGGAAACCCCGCCTGCAGGCAACAATAAGTGCCCGGCTGGGAGAGAGGAGAGGAGCAGAGCTGGGAAGGAGCCCCGCGCCTGTGCTCTGGCATCGCCCACTGCTCCCTATCACTCACCAGGAATGGGTCCTGGGCTGGAGGGCTCAATTGTGACCAGGAC	CAGGCTCCAGGACCCTGCAGCGCCTGGAGACCTCTGGATGGGGTTCCTGGGGTTCTGTGTGGGGTGGAGCCTAGTCGGGGGGCTCAGATCTCCATTTGGTGCAGACAAAGAAGGGATGAGGCCTTACTCTCCACGTGCAGGATGATGGTGGCCTCAGCGTGCCCAGCAGGGCTAGTGGCATTGCAGATGTACTGGCCCGAGTCCTGCTGGGCTACCCGGGGTATGATGAGTGTGTCACCTTCCAGCCGGTGCTGCCAGGGCAGTGGGGAACGCAGCTTGGACCAGTGGATGGTGGGCGCGGGGCTGCCTGTGGAGTCGAGTGGAAGATGACAGAAGTCACTGGGCTACCTCAGGGACCCGCAGAGGGTGGCCATGGTGAGGAAGGGCCCTGGGTGATCCTGTCCCTCTATGGGGACCCCAGTTGGGTTCCTCGGCCATCACTGGGGGATGCTAGCAACACGGTCTCCCCGTACTCCCCACCCCTGGGCATGACATCATCTCTAGATCACATGTGTCTACATTTCAGACCCCAGGGCATCCCTGCCCTGCCAGCCCTATGTGCCAGCCCTTGGTCACACCTGTGGCTGAGCAGCGCAAGGTGGCCGTGTGTCCAGCCTCCACAGTCAGCTCAGCTTCTTCAGCTTGGACCTGAGGGGCCCCTGGGGCCATGGCGCCCGTGTCCACGATCACCTCCACCTGCTTCTGTGCTGTGCCTAGTGCATTCTGAGCAAGGCACACATAAGTGCCCGCATCTGATGGTTTAGCTGATGAAATCTGGGAGAAAGCAAGGAGGCTGGTTATGTGGGGACTCAGTGGGGACGCTGATGTCAGCCCCAGCTCTGGCTTGGTCTTCCCTATTTCCTCTACCCTGCCTTGGTATCTATTTATTTACTTATTTATATATTTATTTTTTGAGACAGGGTCTTACTCTGTCGCACAGGTTGGAGTGCAGTGGCACCATCTGGCTCATTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCTCGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTATGTGCCACCACACTCAGCTAATTTTGTTTGTTTGTTTGTTTTTTGAGGGTCTTGCTCTGTCACCCAGGCTGCAGTGCTGTGGCACGATCTCTGCTCACTGAAAGCTCTACCTCCCAGGTTCACATCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGCACCCGCCATCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAATTGCTAGGATTACAGGTGTGAGCCACTGCACCCAGCCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACTTTGGCCTCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATCTTCCTGCCTCAGCCTCTCCAAGTGCTGGGATTACAGGCACGTGCCACCATGCCTGGCCCTTTCCTTGGTTTTTAGCTGTCCCATCTGGTTGCTTGAGGGCTCACCCTCATGACACCCCATTAGTCCATCCATCCACTTGGCCTTCGACCCACCCTCCCACTCATTCTTTCTTCCTTCTCCTACCTTCCTTCTCTCTTCCCTCTCATCTTCCAGTCTATTCGTCATCCACCCATCCCATCCCATTCCTCCCTTCCTCTCTCCATCCACTCATCACCACCTGCCCATCCACTACTATCTCCTCCAAGCACCCGCTCAAGGCTGGGCCATGGACTGGGCCTCAGACCCAGAGAGGCAGCCCCGGCTTCACCTGCAGCACCGCGTGGCTGTCCATGAGCCCATATGTCCGCTGCTCCAACTTGGCAGGGGTGCTGCTGATCCGGGTCCAACGAGCAGAGGAGCGGGGCTCCCCGGCACTGACACACTCCAGGGTGACAGCCTTTCCCACTTTCACCCACACGGGGCCCTCGGGGAGCACGGACACTGTAGGGGGCCCTGTGCAAAGGAATGACAACCACTGACACACAGGCAGGGCTCTGCTGCTCACCCACACTGCCATGGCCTCCAGCTTAGTAACTGCTGGGTGGGCACCTGTCTCCCCACTGCACTGAGGTGGAAACTGAGGCTCAGAGAGGGAGAATGCCCAAGACAGAGTCAATGGTGGAAGGAGGATTTAAACTTGGAGGCTCTGAGCTGAGAATCAGGGCTGGAAACAGGGCAGAGCCCCACAGGGTCAACGTCCCCTCACCGTGCACACTGAGGTTCACCACACTCTGGGCCACACCGTAGGCATTGGAGGCCACGCAGCGGTAGGTACCGTGGTTGCTGGGCCGGGTGCCCACGATGGTGATGATGGAGCCATTGGGACTGATGTGGACGTTGTCTGTGAGGTTGCATGGGGGAGGGTGAGAGAGGATTGACCTGGTCCTTCTCGTGTCTTGGTGCTGCCAGCCTGTGCCCCTGGGCCCACTTCCCCAATCCCTCCGGCCTGGGTGTGTCTAGCTCATGGAGTCGCAGATAGCAGAAAGTAACAAAGGCCTTGGAAACTCCTGGGTCCAGCGCTCTTGCCATACAGAGACGGGAAGGGCCTTACTCAGGGCCACACCATGAATGTGGGGCGTCCAGACTTCTGCCCCACCCTTGCACAGTGGGGATGACGGCACCCCCATGCCTGCCCCCAGCTTGCCCACCTGCCCACCAGCCTGGCTCACCCTCCAGCTCCTGGTTCCGGGTCTTCCACTCGAGGCTGATGGGGGCTGCCCCGTCATGGATGAGGCACTTGAAGCTGGCATCCTGGCCCTGCTGCACGGTGCTGCTGGGCGGGTCGATGGAGATGACCGGGCTCCTAAGGCCTGGGGCCAAAGGGGCAGAGGGCTGGGCTCAGCAGGGGTGGGCTTAGCTTCAGGGCCCTCCCTTCCCCCCTTGCCCATGGCATCTGCCATACTCACGGTAGGAAGACCCCTCACTGGGCGGGACGGTGACTGTGAAGGAGGCTTCTTGCTCAGGGCCTGGGCCGCTGGCTGCACGACACACATACTCGCCTGAGTCGGCAGGGGAGACGAGGTGGAGCCGCAGCTGGGAGCCATGGGTCTGTCAGAGCAGCGAGGGGACAGTTATCAGGGCAAAGTCCCCAGGACAAGGAATGTCCCCAAGCCCAACTGTGCCGGTACCCAAGAGTTCTCTCGGAAGCTCAGGGTCTCAGCTGGTAGGGCTGGTGGAAGCTTCATTCACAGAATCCTAGAGGTCCAACCCACTCACTTTACAGTGGAGGAAACTGAGGCCCAGGAAAGGATTCAGCTGCAGAGCCAAGAGAAAAACCCAGGTCTCCTGATTTGCAGGCTGGTGAACTCGTCCCGCAAACGTATTTTATCCCCTGGGGTCCCCAAGCAGGCTGGTGTTTGCATGAGGTTTGGGTACAGAAAGCAACTGCAGGTCTAACCTTGCCTGACCTGGAATCCTCCCCATCCTGGCCCCTGTACCTGGTGCCGGGCGGGGAGGCTGCCCCCGCGCTTGTACCACGTGACCTGGGCATGGGCCTGCCCGGGCACCACACAGTTCAGATCCAGAGTCTGCCCTTCAGTCACGTGTGAAGAGGAGGCCTCGATGTAGATGGGCTGGGCCAGTCCTGGAGCTGTGGGCACAGGGGGTGGGTGAGAGAGGCCAGGCTCCGGGGATCAAGGCAGGGGCTGAAGGTGGTGGCAGTGAAGACCAGCTCCAGTTGATCCTGGGGGCGCGGTGGCTTGAGAGTGGCTGATATAACCTAAGAAGGGTCTCCTTTCCCTGGGGACTCAAGGGTCCTCCTGAAACTCAGGGCTGGGGTCCCCCTGGTTGAGGGGACGGGACCATTGTCAGACTTGGGAACACCTGGGTTGGCTTGATCCTCCGTGGTAGGAAACCCCGCCTGCAGGCAACAATAAGTGCCCGGCTGGGAGAGAGGAGAGGAGCAGAGCTGGGAAGGAGCCCCGCGCCTGTGCTCTGGCATCGCCCACTGCTCCCTATCACTCACCAGGAATGGGTCCTGGGCTGGAGGGCTCAATTGTGACCAGGAC	benign	5,041
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 21842256, gene HSPG2 (heparan sulfate proteoglycan 2): what disease(s) if pathogenic?	pathogenic; ['HSPG2-related_disorder', 'Lethal_Kniest-like_syndrome', 'Schwartz-Jampel_syndrome_type_1']	GCTCATTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCTCGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTATGTGCCACCACACTCAGCTAATTTTGTTTGTTTGTTTGTTTTTTGAGGGTCTTGCTCTGTCACCCAGGCTGCAGTGCTGTGGCACGATCTCTGCTCACTGAAAGCTCTACCTCCCAGGTTCACATCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGCACCCGCCATCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAATTGCTAGGATTACAGGTGTGAGCCACTGCACCCAGCCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACTTTGGCCTCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATCTTCCTGCCTCAGCCTCTCCAAGTGCTGGGATTACAGGCACGTGCCACCATGCCTGGCCCTTTCCTTGGTTTTTAGCTGTCCCATCTGGTTGCTTGAGGGCTCACCCTCATGACACCCCATTAGTCCATCCATCCACTTGGCCTTCGACCCACCCTCCCACTCATTCTTTCTTCCTTCTCCTACCTTCCTTCTCTCTTCCCTCTCATCTTCCAGTCTATTCGTCATCCACCCATCCCATCCCATTCCTCCCTTCCTCTCTCCATCCACTCATCACCACCTGCCCATCCACTACTATCTCCTCCAAGCACCCGCTCAAGGCTGGGCCATGGACTGGGCCTCAGACCCAGAGAGGCAGCCCCGGCTTCACCTGCAGCACCGCGTGGCTGTCCATGAGCCCATATGTCCGCTGCTCCAACTTGGCAGGGGTGCTGCTGATCCGGGTCCAACGAGCAGAGGAGCGGGGCTCCCCGGCACTGACACACTCCAGGGTGACAGCCTTTCCCACTTTCACCCACACGGGGCCCTCGGGGAGCACGGACACTGTAGGGGGCCCTGTGCGGAGGAATGACAACCACTGACACACAGGCAGGGCTCTGCTGCTCACCCACACTGCCATGGCCTCCAGCTTAGTAACTGCTGGGTGGGCACCTGTCTCCCCACTGCACTGAGGTGGAAACTGAGGCTCAGAGAGGGAGAATGCCCAAGACAGAGTCAATGGTGGAAGGAGGATTTAAACTTGGAGGCTCTGAGCTGAGAATCAGGGCTGGAAACAGGGCAGAGCCCCACAGGGTCAACGTCCCCTCACCGTGCACACTGAGGTTCACCACACTCTGGGCCACACCGTAGGCATTGGAGGCCACGCAGCGGTAGGTACCGTGGTTGCTGGGCCGGGTGCCCACGATGGTGATGATGGAGCCATTGGGACTGATGTGGACGTTGTCTGTGAGGTTGCATGGGGGAGGGTGAGAGAGGATTGACCTGGTCCTTCTCGTGTCTTGGTGCTGCCAGCCTGTGCCCCTGGGCCCACTTCCCCAATCCCTCCGGCCTGGGTGTGTCTAGCTCATGGAGTCGCAGATAGCAGAAAGTAACAAAGGCCTTGGAAACTCCTGGGTCCAGCGCTCTTGCCATACAGAGACGGGAAGGGCCTTACTCAGGGCCACACCATGAATGTGGGGCGTCCAGACTTCTGCCCCACCCTTGCACAGTGGGGATGACGGCACCCCCATGCCTGCCCCCAGCTTGCCCACCTGCCCACCAGCCTGGCTCACCCTCCAGCTCCTGGTTCCGGGTCTTCCACTCGAGGCTGATGGGGGCTGCCCCGTCATGGATGAGGCACTTGAAGCTGGCATCCTGGCCCTGCTGCACGGTGCTGCTGGGCGGGTCGATGGAGATGACCGGGCTCCTAAGGCCTGGGGCCAAAGGGGCAGAGGGCTGGGCTCAGCAGGGGTGGGCTTAGCTTCAGGGCCCTCCCTTCCCCCCTTGCCCATGGCATCTGCCATACTCACGGTAGGAAGACCCCTCACTGGGCGGGACGGTGACTGTGAAGGAGGCTTCTTGCTCAGGGCCTGGGCCGCTGGCTGCACGACACACATACTCGCCTGAGTCGGCAGGGGAGACGAGGTGGAGCCGCAGCTGGGAGCCATGGGTCTGTCAGAGCAGCGAGGGGACAGTTATCAGGGCAAAGTCCCCAGGACAAGGAATGTCCCCAAGCCCAACTGTGCCGGTACCCAAGAGTTCTCTCGGAAGCTCAGGGTCTCAGCTGGTAGGGCTGGTGGAAGCTTCATTCACAGAATCCTAGAGGTCCAACCCACTCACTTTACAGTGGAGGAAACTGAGGCCCAGGAAAGGATTCAGCTGCAGAGCCAAGAGAAAAACCCAGGTCTCCTGATTTGCAGGCTGGTGAACTCGTCCCGCAAACGTATTTTATCCCCTGGGGTCCCCAAGCAGGCTGGTGTTTGCATGAGGTTTGGGTACAGAAAGCAACTGCAGGTCTAACCTTGCCTGACCTGGAATCCTCCCCATCCTGGCCCCTGTACCTGGTGCCGGGCGGGGAGGCTGCCCCCGCGCTTGTACCACGTGACCTGGGCATGGGCCTGCCCGGGCACCACACAGTTCAGATCCAGAGTCTGCCCTTCAGTCACGTGTGAAGAGGAGGCCTCGATGTAGATGGGCTGGGCCAGTCCTGGAGCTGTGGGCACAGGGGGTGGGTGAGAGAGGCCAGGCTCCGGGGATCAAGGCAGGGGCTGAAGGTGGTGGCAGTGAAGACCAGCTCCAGTTGATCCTGGGGGCGCGGTGGCTTGAGAGTGGCTGATATAACCTAAGAAGGGTCTCCTTTCCCTGGGGACTCAAGGGTCCTCCTGAAACTCAGGGCTGGGGTCCCCCTGGTTGAGGGGACGGGACCATTGTCAGACTTGGGAACACCTGGGTTGGCTTGATCCTCCGTGGTAGGAAACCCCGCCTGCAGGCAACAATAAGTGCCCGGCTGGGAGAGAGGAGAGGAGCAGAGCTGGGAAGGAGCCCCGCGCCTGTGCTCTGGCATCGCCCACTGCTCCCTATCACTCACCAGGAATGGGTCCTGGGCTGGAGGGCTCAATTGTGACCAGGACAGATGCCTCCAGGGTGCCTGAGCTTCCGGTCACTTGGCACGAGTACTCGCCAGAGTCAGCCGGGGACACCTGGTTCAGCCTCAGCAGTGGGCCGTGGACCTGGCCAAGGTGGGGTGAGAGCGGGGAGGGTGAGCTGGGAGCCTTCAGATGCCCAGGCCTCTGGTACCCACACCCTGGGACTGCCATGCACAGATATGTAGGCGCATCCTGTTGGAGGCGACCCCTTTGACAGTCCGCATTGTGGAGGGCATGTTTATTATGATGGTTTCTCCGGCAGGAGGAAGTCAAGAGCCTTGAGTAACAGGTGTCCTTTTCTTTTTTTTTTGAGACAGTGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCTGCCACCATGCCTGGCCAATTTTTGTGTTTTTCGTTTCGCCATGTTGGCCGGGCTGGCTTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGACATGAGCCACTGCGCCCAGCCAGAGATGTCCTTTTCTATTTTGCACCAAGGTGCTGTGGGGCTGGTGGTGGCCCTGCTGTGCCCAGCCCGCTCTCAACTTCCTGATTCCATTGACCTCCTGCTGCCATTTCCCACAAGCCCCAGTTGCTGAGGCCACTTTCCCTTCAACGCTGGATTCAGGCAGGACCACTGCAGGTGTGGAGGATGCATGCATCCTTCTCCAGCTCCTTTACCTGGTGCCGGGCAGGGAGGTTTCCTCCACGCTTGTGCCACGTGACCTGGGCGTGGGCCTGCCCGGGCACCACGCACTTCAGATCCAGGGTCTGCCCTTCTGCCACTCGGGAGGAGGAGGGCTCGATGCGGATGGGTGGGGCTCCACCTGGGGCTGG	GCTCATTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCTCGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTATGTGCCACCACACTCAGCTAATTTTGTTTGTTTGTTTGTTTTTTGAGGGTCTTGCTCTGTCACCCAGGCTGCAGTGCTGTGGCACGATCTCTGCTCACTGAAAGCTCTACCTCCCAGGTTCACATCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGCACCCGCCATCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAATTGCTAGGATTACAGGTGTGAGCCACTGCACCCAGCCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACTTTGGCCTCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATCTTCCTGCCTCAGCCTCTCCAAGTGCTGGGATTACAGGCACGTGCCACCATGCCTGGCCCTTTCCTTGGTTTTTAGCTGTCCCATCTGGTTGCTTGAGGGCTCACCCTCATGACACCCCATTAGTCCATCCATCCACTTGGCCTTCGACCCACCCTCCCACTCATTCTTTCTTCCTTCTCCTACCTTCCTTCTCTCTTCCCTCTCATCTTCCAGTCTATTCGTCATCCACCCATCCCATCCCATTCCTCCCTTCCTCTCTCCATCCACTCATCACCACCTGCCCATCCACTACTATCTCCTCCAAGCACCCGCTCAAGGCTGGGCCATGGACTGGGCCTCAGACCCAGAGAGGCAGCCCCGGCTTCACCTGCAGCACCGCGTGGCTGTCCATGAGCCCATATGTCCGCTGCTCCAACTTGGCAGGGGTGCTGCTGATCCGGGTCCAACGAGCAGAGGAGCGGGGCTCCCCGGCACTGACACACTCCAGGGTGACAGCCTTTCCCACTTTCACCCACACGGGGCCCTCGGGGAGCACGGACACTGTAGGGGGCCCTGTGCGGAGGAATGACAACCACTGACACACAGGCAGGGCTCTGCTGCTCACCCACACTGCCATGGCCTCCAGCTTAGTAACTGCTGGGTGGGCACCTGTCTCCCCACTGCACTGAGGTGGAAACTGAGGCTCAGAGAGGGAGAATGCCCAAGACAGAGTCAATGGTGGAAGGAGGATTTAAACTTGGAGGCTCTGAGCTGAGAATCAGGGCTGGAAACAGGGCAGAGCCCCACAGGGTCAACGTCCCCTCACCGTGCACACTGAGGTTCACCACACTCTGGGCCACACCGTAGGCATTGGAGGCCACGCAGCGGTAGGTACCGTGGTTGCTGGGCCGGGTGCCCACGATGGTGATGATGGAGCCATTGGGACTGATGTGGACGTTGTCTGTGAGGTTGCATGGGGGAGGGTGAGAGAGGATTGACCTGGTCCTTCTCGTGTCTTGGTGCTGCCAGCCTGTGCCCCTGGGCCCACTTCCCCAATCCCTCCGGCCTGGGTGTGTCTAGCTCATGGAGTCGCAGATAGCAGAAAGTAACAAAGGCCTTGGAAACTCCTGGGTCCAGCGCTCTTGCCATACAGAGACGGGAAGGGCCTTACTCAGGGCCACACCATGAATGTGGGGCGTCCAGACTTCTGCCCCACCCTTGCACAGTGGGGATGACGGCACCCCCATGCCTGCCCCCAGCTTGCCCACCTGCCCACCAGCCTGGCTCACCCTCCAGCTCCTGGTTCCGGGTCTTCCACTCGAGGCTGATGGGGGCTGCCCCGTCATGGATGAGGCACTTGAAGCTGGCATCCTGGCCCTGCTGCACGGTGCTGCTGGGCGGGTCGATGGAGATGACCGGGCTCCTAAGGCCTGGGGCCAAAGGGGCAGAGGGCTGGGCTCAGCAGGGGTGGGCTTAGCTTCAGGGCCCTCCCTTCCCCCCTTGCCCATGGCATCTGCCATACTCACGGTAGGAAGACCCCTCACGGCGGGACGGTGACTGTGAAGGAGGCTTCTTGCTCAGGGCCTGGGCCGCTGGCTGCACGACACACATACTCGCCTGAGTCGGCAGGGGAGACGAGGTGGAGCCGCAGCTGGGAGCCATGGGTCTGTCAGAGCAGCGAGGGGACAGTTATCAGGGCAAAGTCCCCAGGACAAGGAATGTCCCCAAGCCCAACTGTGCCGGTACCCAAGAGTTCTCTCGGAAGCTCAGGGTCTCAGCTGGTAGGGCTGGTGGAAGCTTCATTCACAGAATCCTAGAGGTCCAACCCACTCACTTTACAGTGGAGGAAACTGAGGCCCAGGAAAGGATTCAGCTGCAGAGCCAAGAGAAAAACCCAGGTCTCCTGATTTGCAGGCTGGTGAACTCGTCCCGCAAACGTATTTTATCCCCTGGGGTCCCCAAGCAGGCTGGTGTTTGCATGAGGTTTGGGTACAGAAAGCAACTGCAGGTCTAACCTTGCCTGACCTGGAATCCTCCCCATCCTGGCCCCTGTACCTGGTGCCGGGCGGGGAGGCTGCCCCCGCGCTTGTACCACGTGACCTGGGCATGGGCCTGCCCGGGCACCACACAGTTCAGATCCAGAGTCTGCCCTTCAGTCACGTGTGAAGAGGAGGCCTCGATGTAGATGGGCTGGGCCAGTCCTGGAGCTGTGGGCACAGGGGGTGGGTGAGAGAGGCCAGGCTCCGGGGATCAAGGCAGGGGCTGAAGGTGGTGGCAGTGAAGACCAGCTCCAGTTGATCCTGGGGGCGCGGTGGCTTGAGAGTGGCTGATATAACCTAAGAAGGGTCTCCTTTCCCTGGGGACTCAAGGGTCCTCCTGAAACTCAGGGCTGGGGTCCCCCTGGTTGAGGGGACGGGACCATTGTCAGACTTGGGAACACCTGGGTTGGCTTGATCCTCCGTGGTAGGAAACCCCGCCTGCAGGCAACAATAAGTGCCCGGCTGGGAGAGAGGAGAGGAGCAGAGCTGGGAAGGAGCCCCGCGCCTGTGCTCTGGCATCGCCCACTGCTCCCTATCACTCACCAGGAATGGGTCCTGGGCTGGAGGGCTCAATTGTGACCAGGACAGATGCCTCCAGGGTGCCTGAGCTTCCGGTCACTTGGCACGAGTACTCGCCAGAGTCAGCCGGGGACACCTGGTTCAGCCTCAGCAGTGGGCCGTGGACCTGGCCAAGGTGGGGTGAGAGCGGGGAGGGTGAGCTGGGAGCCTTCAGATGCCCAGGCCTCTGGTACCCACACCCTGGGACTGCCATGCACAGATATGTAGGCGCATCCTGTTGGAGGCGACCCCTTTGACAGTCCGCATTGTGGAGGGCATGTTTATTATGATGGTTTCTCCGGCAGGAGGAAGTCAAGAGCCTTGAGTAACAGGTGTCCTTTTCTTTTTTTTTTGAGACAGTGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCTGCCACCATGCCTGGCCAATTTTTGTGTTTTTCGTTTCGCCATGTTGGCCGGGCTGGCTTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGACATGAGCCACTGCGCCCAGCCAGAGATGTCCTTTTCTATTTTGCACCAAGGTGCTGTGGGGCTGGTGGTGGCCCTGCTGTGCCCAGCCCGCTCTCAACTTCCTGATTCCATTGACCTCCTGCTGCCATTTCCCACAAGCCCCAGTTGCTGAGGCCACTTTCCCTTCAACGCTGGATTCAGGCAGGACCACTGCAGGTGTGGAGGATGCATGCATCCTTCTCCAGCTCCTTTACCTGGTGCCGGGCAGGGAGGTTTCCTCCACGCTTGTGCCACGTGACCTGGGCGTGGGCCTGCCCGGGCACCACGCACTTCAGATCCAGGGTCTGCCCTTCTGCCACTCGGGAGGAGGAGGGCTCGATGCGGATGGGTGGGGCTCCACCTGGGGCTGGNN	pathogenic	5,050
Regarding the variant at chromosome 1 and position 21855290, affecting gene HSPG2 (heparan sulfate proteoglycan 2): benign or pathogenic? If pathogenic, what are the associated illness(es)?	benign	TTCCCTCCCCAGCCTCTAACCACAAGCTGGAGGCCCATTGACCCACCCATGACTTCTTGATGATGAGCTCCTCTGGCCCATAGGGAACCAGCAAGCTTTACTACCCAGGCTGCGCCCAAGGATGCGGATGACAGTGAGACACCTCCCTTCTACAGGACGTCTTCCGTGTGCTCACAAGTACTTTCCATAGACACTGTCTCATTTAAACCACACCATGACTGGCCAGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGACGGTCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAATACAAAAAATTAGCCGGCCTGGTGGCGGGTGTGCCTGTAGTCCTAGCTACTCAGAAGGCTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATCACGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTCTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAAAAAACCACACCATGACCAAGCAGGTGGGCAGTACTGCTCCATTTCATAGATGAATCTGAGGCCCCAAAAGTTAAAAGCTAGTTCAAGGTTGCTAAGGGGCAGATCTGGGATTTGAACCAGGTCAGCCGACTCCCAGCTTAGTATTCAACCTGGACATTCTGCTGCTTCCTGACAAATTCTGAAACAGTCACTCATAGGGAGCCCAGGTAAGCTGGACCAGCCTTAACCTCCCTCCCGTCCACTCAACCTCCTTCTCTCTCTGAGCAGGCGCTGAAGGGTCAAAGCCTGCCTGGAATGCCCCCCTGTCCTGGTCCCACTGAAGAAGCCACAGGCATCTTCCTTGGGAGCTCCTAGGGCTCAGCCCCGGCCCAGCCACACCTGGCTCCTCACCTGGGGTGTAGCTGGGGCCAGAATGGGTGCCGTGGAGCACAGACACAGTAATGGAGGCCTCCTTGGGGCCCGATCCATTCTCCACACGGCACACATATTCTCCAGAATCAGCTGGTGAGACCTGGGGGAGCCGCAGACGGGAGCCGTGCACCTGGGCCAGGAGGAGCCAGAGGTACGTGAGGACAGGGACGGGGGCTATTGTCACCACTCCCTCAGCCTCAGTGATTCATTCAAACTCTCACTGGCTCTGCTCCGAGCCATCCCATGCTAGAAACTGGGAGGGAGGGAGATGAGGCCTGGCTTCTGCTGGTGGAACGTGTGGGGCAGTGTGCCGCCTCCCCCGCCCAGCGTACAGGCCCCGCCTCCGCCACAGCCCCTGCACCCTGGGTCCCCTGCCATAGGCTCAGGGCCCACATACCTGGGTGTGGGGAGGCAGGCTACCCCCTCGCCTGTACCAGGTGACCTGGGCATGGGCTGACCCTGCCACCACACAGTTGAGGTCGAGTGTTTGCCCTTCTGTCACAGAAGGCGATGAGGACTCAATCTTGACCGGCGGTGGGCTGGCATCTGAGGCTGGGGCCAGAGTAGGGGTCAGCAGGCCCCAGGGGAGCCCTGGCTTGCCCTCCCCACCCCTCCATTCCCAGAGAGTCCGTACCTGAAAGGACAACCACTTGGATCCGGGCCTGGGCAGTGCCTGCAGGGCTGGTGGCCACGCAGAGGTAGAAGCCGGCGTCAGCAGTCGTGATGGCTGGGATGAGCAGTGTCGCGATGTCTGTGCGCTCTGACCGGGCCTGCCGTGGGTGAGATGGGTCAGCTGCCCCAGAGGCAGCTGGACAACGGCTGGCCAGGGGGACAGATAGGGCATAAAAGGGAGAGGCAGGTGCAGGGCCAATATTAGGGCCCAGTGGGGCATGAAGGAGGACAAACGCCAGGCAGCCAAGAGGACGGCAGGGGCTCCCTGCTGGGATGCAGGGGCAGGAGACCACCATCTTGGAGGTGAAGGGAGCCACAGAGGAGGAGGTGGGGTGGGGCGTGAAGGGGGAGGGAAGGTGGCTGGGACTCTCTGCAGAGCCTGTGGGCCTCCTCCTCCTGGGTGGGCCCATCTCCTCACCTGTGGTGGGAGGCTGCCCCCTTCCTTCCTCCAGGTGATGGTGGCGCTAGGCACGCCTGCAGCCCTGCAGTACAGCCTGACGGTGCGGCCTGCGTGGACCTGGGTCCTCTCTGGGCTCACTTGGACTCTGGGCCCACCGCCCCCTGCAGACAGAGTCCTGTGAGAACACGCCCTGGGCTGAGCACACTCCCGGCCCCCACCCTGAGCCCGGCCTCTCACCATGCACGTGGAGCACAGCCCTGGCCACCTGCTGCCCAGCGCTGCTGTGGGCTCGGCACAAGTACTGGGCCTGATCCGTGGGCTCGACAGCTGGCAGGCGCAGGATGCCGCCGTGGATTTGTGCCTTCGCAGGGAGCTGGCCGCCGGGGCCCCCTGACGAGTAGACGTGGGGTCAGCACCCACCAAGCCTGCTCAGAGTCCTGCCCCTCCCCTCCCACACCCAGGAGAGTCAGGCCTTGAATGTCATTCCCATCACGGCCTCACCTGTCCACTCGAGGGTGGGCGTGGGGCTCCCTGTGGCGCTGCAGCGGAACTCCGCCAGTTGCCCGGGCTGCACTGTGAGCTGTGGCGGATGGATGGAGACCACGGGGGCGGACAAGGTGCCCGAGGCTGACAAGGGAGGAAAAGGAACATGCACTCAGGGTGGGGAGTGTCGTCTGACTCACACAACAGTCCTGCTGCCTACTTTCTCTGCTTCCAGGCTAGCCCTCCACGGCCATCTGTGCACACAGGAGCCAGAGGGAGCTTGGGAAATGTCAACAGGACCTTGTGACCTCCCACCTTGAGACCTGTCCATGACTCCCTGTTGCTTTTAGAATAAAATCCAAAATTCCTACCCTGATCCACCACATACTCCATGCTCTCCCGTCTGCCCACACCCGTCCTCCCTCCCACAGCCCCAGCCACGTGGTCTCTGCTGTTCCTCAAACATAGCAACGTGCTCCTGCCTCAGGGCCTTGCCATGTGCTGCTCCCTCTGCCAAGAACACTCTGCCAACTCTCTAACTTGCTCAATGCCTACCTTTCCTTCAGGTCTCAGCTTAGGTGTCACCTCCTCAGAGAGGCCCTCCCTGACTGCCCTATCTAGAGTAGCCCTTGCCTCTCCCACCTTGTTTTATTTTATTTATTTTTCTGAGATGGATTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTAAGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACCTGCCACCACACCCAGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCTGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGCTTACAGGTGTGAGCCACCGCTCCTGGCCTTCTCCCACCTTGTTTCTTGCTTTCTCATCATTCCTAGCCTGGCACTCATCGCCATGTGTAGTTATCTTGCTTGTTCATTTATTCCCATGCTTATGGTCTCCCTGCCTAGGACGTGTACTTCAGGAGGACCGAGATACTGTACATGCTTCTCTCCCCTGCTTCTGCAGAGCCTAGACCAGGACCAGGCATGCAGCAGGTGCTCAGAAATGATCAGCAGAATGAAGAAATGCTGTGCTAATTCTGGTGGGAATGGGGGAGAGACAGGAGGGGAGAATCAGGTATAGATGGGAGGTGTACCCTGCACATGTAGAGTGGCTGTGCCCTGGTCCATGGCAAACATGTTGGAGCCGGTGCACACGTAGGTGCCTGCATCACTCAGCTGGACGTTGCGAATGGTCAGGATGCCATTGAAATCCATGGCTCGGGTGGGCAGTTTCCCGTTGTGCAGGCGGGTCCACACCAGGGTATAGGCTGGGGACTGCAGGGCAAGGCGAAAGGGGGTCATGGGTGGGGCTCAGAGACCCCAGAAGACAGACTTCCTCCATCCCCACTCCCTGACCTGCACACCTTGCTTTTGGCTGTGCAGATGAAGGTGACGTCAGCTCCGGGGCGCACGCTCT	TTCCCTCCCCAGCCTCTAACCACAAGCTGGAGGCCCATTGACCCACCCATGACTTCTTGATGATGAGCTCCTCTGGCCCATAGGGAACCAGCAAGCTTTACTACCCAGGCTGCGCCCAAGGATGCGGATGACAGTGAGACACCTCCCTTCTACAGGACGTCTTCCGTGTGCTCACAAGTACTTTCCATAGACACTGTCTCATTTAAACCACACCATGACTGGCCAGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGACGGTCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAATACAAAAAATTAGCCGGCCTGGTGGCGGGTGTGCCTGTAGTCCTAGCTACTCAGAAGGCTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATCACGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTCTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAAAAAACCACACCATGACCAAGCAGGTGGGCAGTACTGCTCCATTTCATAGATGAATCTGAGGCCCCAAAAGTTAAAAGCTAGTTCAAGGTTGCTAAGGGGCAGATCTGGGATTTGAACCAGGTCAGCCGACTCCCAGCTTAGTATTCAACCTGGACATTCTGCTGCTTCCTGACAAATTCTGAAACAGTCACTCATAGGGAGCCCAGGTAAGCTGGACCAGCCTTAACCTCCCTCCCGTCCACTCAACCTCCTTCTCTCTCTGAGCAGGCGCTGAAGGGTCAAAGCCTGCCTGGAATGCCCCCCTGTCCTGGTCCCACTGAAGAAGCCACAGGCATCTTCCTTGGGAGCTCCTAGGGCTCAGCCCCGGCCCAGCCACACCTGGCTCCTCACCTGGGGTGTAGCTGGGGCCAGAATGGGTGCCGTGGAGCACAGACACAGTAATGGAGGCCTCCTTGGGGCCCGATCCATTCTCCACACGGCACACATATTCTCCAGAATCAGCTGGTGAGACCTGGGGGAGCCGCAGACGGGAGCCGTGCACCTGGGCCAGGAGGAGCCAGAGGTACGTGAGGACAGGGACGGGGGCTATTGTCACCACTCCCTCAGCCTCAGTGATTCATTCAAACTCTCACTGGCTCTGCTCCGAGCCATCCCATGCTAGAAACTGGGAGGGAGGGAGATGAGGCCTGGCTTCTGCTGGTGGAACGTGTGGGGCAGTGTGCCGCCTCCCCCGCCCAGCGTACAGGCCCCGCCTCCGCCACAGCCCCTGCACCCTGGGTCCCCTGCCATAGGCTCAGGGCCCACATACCTGGGTGTGGGGAGGCAGGCTACCCCCTCGCCTGTACCAGGTGACCTGGGCATGGGCTGACCCTGCCACCACACAGTTGAGGTCGAGTGTTTGCCCTTCTGTCACAGAAGGCGATGAGGACTCAATCTTGACCGGCGGTGGGCTGGCATCTGAGGCTGGGGCCAGAGTAGGGGTCAGCAGGCCCCAGGGGAGCCCTGGCTTGCCCTCCCCACCCCTCCATTCCCAGAGAGTCCGTACCTGAAAGGACAACCACTTGGATCCGGGCCTGGGCAGTGCCTGCAGGGCTGGTGGCCACGCAGAGGTAGAAGCCGGCGTCAGCAGTCGTGATGGCTGGGATGAGCAGTGTCGCGATGTCTGTGCGCTCTGACCGGGCCTGCCGTGGGTGAGATGGGTCAGCTGCCCCAGAGGCAGCTGGACAACGGCTGGCCAGGGGGACAGATAGGGCATAAAAGGGAGAGGCAGGTGCAGGGCCAATATTAGGGCCCAGTGGGGCATGAAGGAGGACAAACGCCAGGCAGCCAAGAGGACGGCAGGGGCTCCCTGCTGGGATGCAGGGGCAGGAGACCACCATCTTGGAGGTGAAGGGAGCCACAGAGGAGGAGGTGGGGTGGGGCGTGAAGGGGGAGGGAAGGTGGCTGGGACTCTCTGCAGAGCCTGTGGGCCTCCTCCTCCTGGGTGGGCCATCTCCTCACCTGTGGTGGGAGGCTGCCCCCTTCCTTCCTCCAGGTGATGGTGGCGCTAGGCACGCCTGCAGCCCTGCAGTACAGCCTGACGGTGCGGCCTGCGTGGACCTGGGTCCTCTCTGGGCTCACTTGGACTCTGGGCCCACCGCCCCCTGCAGACAGAGTCCTGTGAGAACACGCCCTGGGCTGAGCACACTCCCGGCCCCCACCCTGAGCCCGGCCTCTCACCATGCACGTGGAGCACAGCCCTGGCCACCTGCTGCCCAGCGCTGCTGTGGGCTCGGCACAAGTACTGGGCCTGATCCGTGGGCTCGACAGCTGGCAGGCGCAGGATGCCGCCGTGGATTTGTGCCTTCGCAGGGAGCTGGCCGCCGGGGCCCCCTGACGAGTAGACGTGGGGTCAGCACCCACCAAGCCTGCTCAGAGTCCTGCCCCTCCCCTCCCACACCCAGGAGAGTCAGGCCTTGAATGTCATTCCCATCACGGCCTCACCTGTCCACTCGAGGGTGGGCGTGGGGCTCCCTGTGGCGCTGCAGCGGAACTCCGCCAGTTGCCCGGGCTGCACTGTGAGCTGTGGCGGATGGATGGAGACCACGGGGGCGGACAAGGTGCCCGAGGCTGACAAGGGAGGAAAAGGAACATGCACTCAGGGTGGGGAGTGTCGTCTGACTCACACAACAGTCCTGCTGCCTACTTTCTCTGCTTCCAGGCTAGCCCTCCACGGCCATCTGTGCACACAGGAGCCAGAGGGAGCTTGGGAAATGTCAACAGGACCTTGTGACCTCCCACCTTGAGACCTGTCCATGACTCCCTGTTGCTTTTAGAATAAAATCCAAAATTCCTACCCTGATCCACCACATACTCCATGCTCTCCCGTCTGCCCACACCCGTCCTCCCTCCCACAGCCCCAGCCACGTGGTCTCTGCTGTTCCTCAAACATAGCAACGTGCTCCTGCCTCAGGGCCTTGCCATGTGCTGCTCCCTCTGCCAAGAACACTCTGCCAACTCTCTAACTTGCTCAATGCCTACCTTTCCTTCAGGTCTCAGCTTAGGTGTCACCTCCTCAGAGAGGCCCTCCCTGACTGCCCTATCTAGAGTAGCCCTTGCCTCTCCCACCTTGTTTTATTTTATTTATTTTTCTGAGATGGATTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTAAGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACCTGCCACCACACCCAGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCTGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGCTTACAGGTGTGAGCCACCGCTCCTGGCCTTCTCCCACCTTGTTTCTTGCTTTCTCATCATTCCTAGCCTGGCACTCATCGCCATGTGTAGTTATCTTGCTTGTTCATTTATTCCCATGCTTATGGTCTCCCTGCCTAGGACGTGTACTTCAGGAGGACCGAGATACTGTACATGCTTCTCTCCCCTGCTTCTGCAGAGCCTAGACCAGGACCAGGCATGCAGCAGGTGCTCAGAAATGATCAGCAGAATGAAGAAATGCTGTGCTAATTCTGGTGGGAATGGGGGAGAGACAGGAGGGGAGAATCAGGTATAGATGGGAGGTGTACCCTGCACATGTAGAGTGGCTGTGCCCTGGTCCATGGCAAACATGTTGGAGCCGGTGCACACGTAGGTGCCTGCATCACTCAGCTGGACGTTGCGAATGGTCAGGATGCCATTGAAATCCATGGCTCGGGTGGGCAGTTTCCCGTTGTGCAGGCGGGTCCACACCAGGGTATAGGCTGGGGACTGCAGGGCAAGGCGAAAGGGGGTCATGGGTGGGGCTCAGAGACCCCAGAAGACAGACTTCCTCCATCCCCACTCCCTGACCTGCACACCTTGCTTTTGGCTGTGCAGATGAAGGTGACGTCAGCTCCGGGGCGCACGCTCTN	benign	5,137
Is the genetic variant on chromosome 1, position 21875925, gene HSPG2 (heparan sulfate proteoglycan 2), benign or pathogenic? If pathogenic, what disease(s) is indicated?	pathogenic	GGACACCCCCTGTGCGCATCCCCCCACCCTCTCCACCCCCTGCCTCACCTCTCACAGTGACGCCCACTGTGGCCTGGGGAGCACGCATCACAGGTGGGGTGGCCGTCTGTGTCCAGAAAACAAGTGTGGGCAGCCCTGAGTGTGGGGGCAGATTTCTAGTCAGGAACGCAGTGGCTCCTTCCTCTCCCCCGATCCTCCTTCAGGACCAGGGGAGAGGGGAGGGGAAGAACAGGCATGTGAACTCATGTGTCCTCAGTGCCACTGCATGCCTGGCACTGTGCTAAGAGTTCCACATGCATAGCCTCATTCAACTCTCACACAAGGGGCTGAGGAGGGTGGACTACCCCATTTCACAGATGAGGCAGCTGAGGCCCTGAAAGTGAAGTGTATCTCACACCAAGTGACACTGAGCAGGCAGTAAGGCCAGGATTTAACCACTGCCTCTCAGAAGGGCCCTGGATGAAGCGGGTGTGGGAGCGGGTGGTAGACATTTCAGGGAAGGGCAGGTGCAGGCAGGGACTGGACGCACTGGCCGGCAGCAGGGTCTCCGTAGCAGGGGCACAGCTGGCAGTCCTGTGGTGTCCCCCGCTGGGCGTCCCCGTAGTATCCTGGCTGGCACTGCTCACACCGAGGGCCCTCCGTGTGATGCTGGCAGCCCTGGAGGAGCAGGATGTGAGTTGAGGCTGGGCCTCCAGAGGCCACAGATTGCTGGGGTGGGCGGAAGGAGGGCGGGACTTACCTGGCAGGCACCTGTTTCTGGCTCGCAGGCCTCTGAGTGGCCATGGCAGCTGCAGCGTTCACAGGTACCCAGGTAGAGGCCACTGGGCGTGCGTGTGTAGCCTGTGTCACAGTCCTGGGGGCAGAAAGATGGCAGTGGGAGGGACTTCCGAACACGGCCCATTCAGGTAGGGGCACTGGATGGCCAGGGCTGGGGAGGTGTGGAGGGCTCATGGAGAAGGAGCGGGAAGCACCATGGAGGGGGCTGGCTGGGCTGGCGTGGGGCCCAGGACTCACCTGGCAGGACGGCCCACGGTACCCGGGTGGGCAGGAGCACTGTTCCACTTCCAGCGCGGGGTCCTGGCCGGTTTCCTCGGGCACAGCCACGTCCATGCTGATGCCAGAGACCCTGGGCGTGACAAGACCCAGCGTGAATAGGAGTGCTGGCTCTGTGCCAGGCACGCCTGGAGTCCTCCACTGGCAGGGTCTTATTAGTCCTCCCGACAGCCCTGTCACAGTGCTGCTGGGGCCCTGTCCAGATCTCCAGAGGCTGCGAGGACCGTGGCAAACAGCTGTTACCTGCAACTTACTCCAAACCATCACCCTTCCTCACCTGGAGAGGTTATACCACCTCGTTCCCCTGGGGTCCCCAATGACAGGCTGATACAGGCTACAAGAGCCCACGGGCCTGAAAGAACGATCACTCTCCGGCGAATGACTCTCCAGAGCTCCCTGTGGGCTGAGGCTGGGGCTAGACTTGACCTGAAACCATATCCCTGCATGGCCCCTCCCCCCTCCTGCGTCCCTCTCCTTGTGAATCACATGCACCCCAATCCCCGTCTCAGGCTTCTTTCTAGGGAGCCTGGCCCCAGACCAGCCTGTATGGGAGACATTGTTAAGACTCTCCGTTTTACAGACAGGGAAAGTGAGGCACAAAAGGGTCACACAGTCTGTAAGTGGCTGTGCTGTACTGCACCGCTTAGATGGAGCCCCTCCCCAAGCCCATGCTGGTCCTCCTGCCCCGGCTCCAGACACCTGCTCTCAGCGGGCTGCTGGGCGTAGGATGCTCGGATCAGGAGGGTGTCGATGCCTGCCAGTGCCATCAGCAGGTGCTCCCGTGTGGCTGGCTGCCCATCGGGCCGCTGCCATGCTTGCTGCCAAGGAGAGGACACATGTGCTCAGCCCCTGACGTCCTGGAGTATTGAATGCCGGAGAGGCAGGAGCAAGGGCCTGCCCGCACCCCTACCCCCAGGGGACAGTATTGCTCACCTCCCGGAAAGGCACAATGAAGGTGCTGGGCTGGCCGGGGCTGGGCTCCTGGGCCACATGGTGCTCTAGGATGATGTTGTTACCTTGCAGCACCACCAACGGCTGCCCGTGCAGGGGTGTGGAGCCCGGCTGGGACCTCTGGGTCACTGTGAAGCGCAGCTCTCCTCCATAGGAGGTCACCTGGGACCAGGGTTAGACAGGAGCTTGCGGAGGCCTGAATTCGGGCCCTGTCACTGCTCCAGCCACCTTTTCCATGCAGTGTATCTCACTATTCTCCCAAGGCACCACGACCCTCCCGCCTCCAAGCCTTTGCCTGCGCTGTTCCTGCTGCCTGGAGTTTCCTTTGCCTTTCCACCCACTACCCACCTTGTCCCCCAGGAAGCGTGAAGGGAGGCTCCAGAAGTAGGGTCCAGATAAGAGTCTGTGGAAGGAGGAGAATCCCAGTTCCCCGGGCGTGGGGGAGAAGATGCCCTCGTTGGTGGTGTGGGTGCTTGCGGCGTTGGTCAGGCTGAAGTGACCAGGCTCCTCAGAGGCCCCATGCAACTGGGAGGAGGAGAAAGGGCTGGGATGGGGGCCGTGGCCTGGGACTGGCGCTTGGTCCATCCGGCCCAGGGCTTGGCGGTCCTGCCCGCCCACCTTGCAGAGGTACCTGGGCACGGCTCCATGAAGAGCTGGTGCAGTGGCGACTGACACCCATGCAGAAGCACTTGAGGCAGCCATCGGGGTTTCGGGTACTCAGGTGGAAAGAGCCGTCAGCACATTCATTGCACAAGCGCCCCACCACATTGTTCTGCAGGCACAGAGTTGGAGCTGAAGGACAGCCCATGGGAGAGGCTGCCTGGAGCTCTGGCCGAATCCACCCTCAGTCCAGATAAGAACCCAAGACCCAGGGGAGCCACTGAAAGAGCACATGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACAGCTGTAATCCCAGCTACTCAGGAGGCTGAGGAAGGAGAATTGTTTGAAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCAGCCTACGCGATGGGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAGAGCACATGTATGAGGCGTCATTGCCATCTGAATAGTAATTCCCACTTAACAAGCACTTAGGCAAGCATTTTTCCCTTTTCTCTTTGGCTGCCAGGGGGTTCACCAATAAATTTAGACTTGAAATACAGCGACTTGATTGAAATAATTGCTGCTTCTATTTATGGAGTGTTTCACGCACTGTTCTGCTTTCCATTCGACATCACCTCATTTAACTCCCCTAAGGACCTTGAGAGGTAGGTGATACCTTCATCCTTCACATGAGGAAACAGAGGCTCAGGGATGTGAAATGACTTGCACAAAGTTACTCAGCTTGCCCATCCACTCTGGGATTTAAGACCAGGAGTGCCTGACTCCAGAATCCATCCATTCTTTTTTACACCGACACTTGATACTCACATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCAGTCTTGTTGCCTACAATGGAGTACAGTGGTGCGGTCTCAGCTCACTGCAACCCTGCTTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGATGCTCCCATTCCTAACGCAAGTGACCTCCCTTCTCTGAGCCTCCATTTCCTCATTCACAAATTGGGGACACTAATATCTATATCATTGTATCAATGTGACAATGGACAAAGTATGGCAAAAGCAAAGGTACAATGCAGATACAAAGGCTGCATAAAGAATGACTGGGACTTGA	GGACACCCCCTGTGCGCATCCCCCCACCCTCTCCACCCCCTGCCTCACCTCTCACAGTGACGCCCACTGTGGCCTGGGGAGCACGCATCACAGGTGGGGTGGCCGTCTGTGTCCAGAAAACAAGTGTGGGCAGCCCTGAGTGTGGGGGCAGATTTCTAGTCAGGAACGCAGTGGCTCCTTCCTCTCCCCCGATCCTCCTTCAGGACCAGGGGAGAGGGGAGGGGAAGAACAGGCATGTGAACTCATGTGTCCTCAGTGCCACTGCATGCCTGGCACTGTGCTAAGAGTTCCACATGCATAGCCTCATTCAACTCTCACACAAGGGGCTGAGGAGGGTGGACTACCCCATTTCACAGATGAGGCAGCTGAGGCCCTGAAAGTGAAGTGTATCTCACACCAAGTGACACTGAGCAGGCAGTAAGGCCAGGATTTAACCACTGCCTCTCAGAAGGGCCCTGGATGAAGCGGGTGTGGGAGCGGGTGGTAGACATTTCAGGGAAGGGCAGGTGCAGGCAGGGACTGGACGCACTGGCCGGCAGCAGGGTCTCCGTAGCAGGGGCACAGCTGGCAGTCCTGTGGTGTCCCCCGCTGGGCGTCCCCGTAGTATCCTGGCTGGCACTGCTCACACCGAGGGCCCTCCGTGTGATGCTGGCAGCCCTGGAGGAGCAGGATGTGAGTTGAGGCTGGGCCTCCAGAGGCCACAGATTGCTGGGGTGGGCGGAAGGAGGGCGGGACTTACCTGGCAGGCACCTGTTTCTGGCTCGCAGGCCTCTGAGTGGCCATGGCAGCTGCAGCGTTCACAGGTACCCAGGTAGAGGCCACTGGGCGTGCGTGTGTAGCCTGTGTCACAGTCCTGGGGGCAGAAAGATGGCAGTGGGAGGGACTTCCGAACACGGCCCATTCAGGTAGGGGCACTGGATGGCCAGGGCTGGGGAGGTGTGGAGGGCTCATGGAGAAGGAGCGGGAAGCACCATGGAGGGGGCTGGCTGGGCTGGCGTGGGGCCCAGGACTCACCTGGCAGGACGGCCCACGGTACCCGGGTGGGCAGGAGCACTGTTCCACTTCCAGCGCGGGGTCCTGGCCGGTTTCCTCGGGCACAGCCACGTCCATGCTGATGCCAGAGACCCTGGGCGTGACAAGACCCAGCGTGAATAGGAGTGCTGGCTCTGTGCCAGGCACGCCTGGAGTCCTCCACTGGCAGGGTCTTATTAGTCCTCCCGACAGCCCTGTCACAGTGCTGCTGGGGCCCTGTCCAGATCTCCAGAGGCTGCGAGGACCGTGGCAAACAGCTGTTACCTGCAACTTACTCCAAACCATCACCCTTCCTCACCTGGAGAGGTTATACCACCTCGTTCCCCTGGGGTCCCCAATGACAGGCTGATACAGGCTACAAGAGCCCACGGGCCTGAAAGAACGATCACTCTCCGGCGAATGACTCTCCAGAGCTCCCTGTGGGCTGAGGCTGGGGCTAGACTTGACCTGAAACCATATCCCTGCATGGCCCCTCCCCCCTCCTGCGTCCCTCTCCTTGTGAATCACATGCACCCCAATCCCCGTCTCAGGCTTCTTTCTAGGGAGCCTGGCCCCAGACCAGCCTGTATGGGAGACATTGTTAAGACTCTCCGTTTTACAGACAGGGAAAGTGAGGCACAAAAGGGTCACACAGTCTGTAAGTGGCTGTGCTGTACTGCACCGCTTAGATGGAGCCCCTCCCCAAGCCCATGCTGGTCCTCCTGCCCCGGCTCCAGACACCTGCTCTCAGCGGGCTGCTGGGCGTAGGATGCTCGGATCAGGAGGGTGTCGATGCCTGCCAGTGCCATCAGCAGGTGCTCCCGTGTGGCTGGCTGCCCATCGGGCCGCTGCCATGCTTGCTGCCAAGGAGAGGACACATGTGCTCAGCCCCTGACGTCCTGGAGTATTGAATGCCGGAGAGGCAGGAGCAAGGGCCTGCCCGCACCCCTACCCCCAGGGGACAGTATTGCTCACCTCCCGGAAAGGCACAATGAAGGTGCTGGGCTGGCCGGGGCTGGGCTCCTGGGCCACATGGTGCTCTCTAGGATGATGTTGTTACCTTGCAGCACCACCAACGGCTGCCCGTGCAGGGGTGTGGAGCCCGGCTGGGACCTCTGGGTCACTGTGAAGCGCAGCTCTCCTCCATAGGAGGTCACCTGGGACCAGGGTTAGACAGGAGCTTGCGGAGGCCTGAATTCGGGCCCTGTCACTGCTCCAGCCACCTTTTCCATGCAGTGTATCTCACTATTCTCCCAAGGCACCACGACCCTCCCGCCTCCAAGCCTTTGCCTGCGCTGTTCCTGCTGCCTGGAGTTTCCTTTGCCTTTCCACCCACTACCCACCTTGTCCCCCAGGAAGCGTGAAGGGAGGCTCCAGAAGTAGGGTCCAGATAAGAGTCTGTGGAAGGAGGAGAATCCCAGTTCCCCGGGCGTGGGGGAGAAGATGCCCTCGTTGGTGGTGTGGGTGCTTGCGGCGTTGGTCAGGCTGAAGTGACCAGGCTCCTCAGAGGCCCCATGCAACTGGGAGGAGGAGAAAGGGCTGGGATGGGGGCCGTGGCCTGGGACTGGCGCTTGGTCCATCCGGCCCAGGGCTTGGCGGTCCTGCCCGCCCACCTTGCAGAGGTACCTGGGCACGGCTCCATGAAGAGCTGGTGCAGTGGCGACTGACACCCATGCAGAAGCACTTGAGGCAGCCATCGGGGTTTCGGGTACTCAGGTGGAAAGAGCCGTCAGCACATTCATTGCACAAGCGCCCCACCACATTGTTCTGCAGGCACAGAGTTGGAGCTGAAGGACAGCCCATGGGAGAGGCTGCCTGGAGCTCTGGCCGAATCCACCCTCAGTCCAGATAAGAACCCAAGACCCAGGGGAGCCACTGAAAGAGCACATGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACAGCTGTAATCCCAGCTACTCAGGAGGCTGAGGAAGGAGAATTGTTTGAAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCAGCCTACGCGATGGGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAGAGCACATGTATGAGGCGTCATTGCCATCTGAATAGTAATTCCCACTTAACAAGCACTTAGGCAAGCATTTTTCCCTTTTCTCTTTGGCTGCCAGGGGGTTCACCAATAAATTTAGACTTGAAATACAGCGACTTGATTGAAATAATTGCTGCTTCTATTTATGGAGTGTTTCACGCACTGTTCTGCTTTCCATTCGACATCACCTCATTTAACTCCCCTAAGGACCTTGAGAGGTAGGTGATACCTTCATCCTTCACATGAGGAAACAGAGGCTCAGGGATGTGAAATGACTTGCACAAAGTTACTCAGCTTGCCCATCCACTCTGGGATTTAAGACCAGGAGTGCCTGACTCCAGAATCCATCCATTCTTTTTTACACCGACACTTGATACTCACATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCAGTCTTGTTGCCTACAATGGAGTACAGTGGTGCGGTCTCAGCTCACTGCAACCCTGCTTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGATGCTCCCATTCCTAACGCAAGTGACCTCCCTTCTCTGAGCCTCCATTTCCTCATTCACAAATTGGGGACACTAATATCTATATCATTGTATCAATGTGACAATGGACAAAGTATGGCAAAAGCAAAGGTACAATGCAGATACAAAGGCTGCATAAAGAATGACTGGGACTT	pathogenic	5,212
Determine if the mutation at chromosome 1, position 21881311 in gene HSPG2 (heparan sulfate proteoglycan 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?	benign	CACTTATAGATGATGGGGAGCTCATCATCTTACACGGCAGCCTGTCCCATAGATGGTTCCAAATGCCTGCTTTTTATTGACCTAAACCTGCCACCCTCTTCCAATCTGCACCCACTGGCCAGTTCTGCTCTCCAGAGTCTGTTTCTTCTACCCGACACCTTTGCAGGGATTTGGAGATGACAATGCTGCCCTGCTTGAGCCTTTTCTTCTGTCAGCTCCACAATCCCAGCTCTCGCCACTATTCCTAAGAAATAAGGTCCCACCCCAAGGGCTCTTCCCCCTAGAGTTGCCCTCTGCAGGCCATGCTTCTTCATTTGGCACTCTCCAGGATTAGTCTGATGAGGGTGGAGAGGAGGGCCAACACCTCCCTTGTCTGGATGCTGTATCTCTGGGTTGTTTTTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGGGGCACGGTCTTGGCCTACTGTAACCTCCACCTCCCGGGTTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTAGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGACCTATATTTCTGTTATTGCATCCAGAGGTCATGATAGTTCATCTGGCAGTCATGACAGTCATTCTGGAGGCTTGTGCTGAGCTCATGAACACAGGGAATCTCACACATTGTCCCTTCTCCTATTTTAGTGTTCAAGTGTCTGCTGGCACTACTCACCAGGCAGTGGCCATACACAGGGTCACAGGAGCTGGCATGGCCATTGCAATTGCAACCAGAGCAGGTGCCCAGGTAGGGCCCACCAGGCACCCGAGTGAAGTGGGCATCACAGCTCTCGCAGGACAAGCCAGAATAGCCAATGGGGCATCTGTGGGGACAGGACCAAAAGAGTCGCTGCAAGGACGGTGAGGCCCTGCCGTTTCTCCTCTATCCTTGCTAGGGTCTCTGTGGTTCCCAGCCCTGCCGGCTCAGGCACCTGCACTCCTCCACACTGTGGGCACGGCCATGGCTGGTGGCATGGGTGACGGTGGTATCCATGGCGATGTCGCTAAGTCCCACGCTGGCCATCTTGGTGTTGTACACGGTCTGGATGAGCACGGCCTCCAGGCTCTGCAGCACCTGCAGCAGCTCCGCGCGCTGCACCGGCCGGCCAGACTCATGGACCCAGTGCTCCTGGGTATGGGTGAAGGTGGCAGGGGTCACACATCAGTGCCTACCCAGCCTAAATCCCCCTTTGCTCCCAGCCCTAAGGGCTCAGGCGCCACCCACCTCAGAGAACTGGACCTGGCGCTGGTTCAGAGCACCAGGTTGGGTGGGTGTGTGGCCTCGGGAGAGGAGGCGGTACCCGGCACCCATGAGGACCACGTCCGGCCGCTGCACTGGCTCCAGCATGCCACGGGCCAACTCGTAGCGCACGTTGTAACGCAGGGAGCCGCCATAGGAGTCCACCTGGCACAACAGGGTGGATCAGCACGGGCAGCTGTGGGCACACTTGACACCTCGTGCCTATGAGGTGCCTATAGTCTTCCAGCTCCTCCCTCACTCTGCCTACCTGAGACTTACTGTGTGCCAGGCACTGAGCTAGGCACAGGGAAACCGAGATGGGCGAGACTCAGGCCCTGACTCTAGGGTGTTTGGTCCATGGCAGGGTGTGGAATCATGCAGTGCACAGGGTACCCAGGGAAGCCAGTGCGGAGGCACAGAACCCAGCCCAGGCATGGGGGAGTGGTCAGGGAGGGCTCCCGGGAGGAGGGGAGGCCAGCTCTTCTTCCCAAGCCAACAGTGCAGGGGAGAGGTCCTGCCCTGAATGGATGAGCCGCTGCCACAGGGGGCTGCATCGGGGCATGGTAACACCTTTCCCTCCAAGTCTGCCTTGTTGTCCACCAACTGCAGAAGGAGCAGAGCCCACAGGAATTCTTTCCCCACCCAGGGTGGCAGCCCAGGCCCCTCACCTTGTTGCCCAGGAACTGTTCAGGCAGAGCCCAGAAGGAGTCGTGGACGAGGAAGCGGCGGGACAGGTCGACTAGCTGGAACTCGTGCAGGGATGGGTCGATCTGCAGCTGCGTGGAGGAGAGGGGTGGCGTGCCGGGCTGCGCAGGCATTGTCACATTCACACCTGTGGGTGGCAAGGGGGAGGCTGAGGGCTGCAGCCTGGGCCTGCCTGATACACCCATCTTGAGGGGCAGCAATCCAGAAAGGTGGGAAAGTTCTAGTGGAAATTTGATTTCGAGAAAACTTTGATCTCTCTTCCAAAGTGAAGAAAATGCAGTTTTTTGCCGGGTGTGGTGGCTCACGCCTATAATGCCAGCACTTTGAGAGGCTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCATGACCAGCCTTCCCAACATGGTGAAACCTCGTCTCTACTAAAAATAAAAAAACTAGACAGGCATGGTGGTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGCAGAATCACTTGAACCCGGGAGGCGGAGGCTGCAGCGAGCTGAGATCACACCAGTGTACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAAGAAAATGCAGTTTTTTCCTCCTTCCCAAATACTGGAGCAGCATTTCCCAAAGCATGCTCTGGGAAAGTCAATGCCATGGAATGATAGCTGGGAACCATTTGGGAACCACAGGGTAAAGAAAGGACAAGGGGATTCTTTGCAGCCAGACTTCTCAGGGTCTTTCTTGCTAAGAGACCCACAGACTTTCAGGGCTGGAACAACCCTGCAGGCAGGAGAGCTACACAGGGCTGAGGAACAGGAGACCAAGTCCAGGTGTGTTGTAAGCCTGGGCAAGGGCCTCAGTTTCCTTATCTGTAAGATGGTGCTTAAAGTAGCCTGCCTCCTAGAGGTATAAGCTAAAATGAGCACATTGATATAAAATGGCTAGCTCTTATTGTTGCTGTTGTTATGATGGGTCGTCTAGTCCAACCCTCTTCTATGTACACACACACACACACACACACACACACACACACACACACACAGTCACCCTACATGGGAATTCCCTTGACAGCATCCTCCCAGATCTCTAGGACAGCTCCATCCTAGAGAACTTTCGGTGGAGTGAAAATATCCTGTACCTACACTCTTCATTACGGTAGCTGTTAGGTTGGTGAAAAAGTAATTGCTGGTTTGGTTTTGCCATTAAAAGTAATGGTACCAGCAACATGTGGCCACTGAGCACTGGAGACATGTCTTGTGCTGCTCAGGAATGAATCATTGTATTTCAATTTAAAGAGCCACACAGGGCCAGTGACTGCCACATTGGATGGTGCAGCCGTCATGGATGGAGAGCGTACAACCTCCAAAGGCCGTCCCTCCCGGCTCTGGACAACTTTGACTCTTAGCAAGTTCTTCCTTATACAGAGTCCACATCTGTCTGCCAATAGCTTCTCCCCCTCATCCTGAATTAACCCCCTGCAACCACAGGGGAATCCAGCTCCTCACCCGCAGAATGACCGAGCACAGCCCCGGGTCTAGGTTACTCAATCCTCTTTCCTCCCTGCCTTCCGGGGATGTCTTCAGGCCTCCTCCCTCCTGGTCACCATCCACACACAGGCCACCTGCTCACCCTGGAATTCCCACCACTCCCTCCCCTGGACCACCCAGATTCCAATCAGACAGCCCTGGGTTCAGCTCCCCCTCTAAACTGCTGTGTGAACCCAGGGAAGCCCCACAACATCTCAGAGCCCTGGGGCTCTCATCTTAAAACTGTGAAATCAGCCCTGACCTTGCAAGGGTTTTTGGCAGTTCGTTGACTGTCACGTCAAGCCACAGGGCCAACTGCCTGCTCACCAAATGGTGGCCACGGCCATTAGCATTGTAAATATACTGGGGGACAACTTTGGGAAGTAACTAAGTTTTGTTTTGTTTTTAGGGATGGGGTCTCACTCTGTTGT	CACTTATAGATGATGGGGAGCTCATCATCTTACACGGCAGCCTGTCCCATAGATGGTTCCAAATGCCTGCTTTTTATTGACCTAAACCTGCCACCCTCTTCCAATCTGCACCCACTGGCCAGTTCTGCTCTCCAGAGTCTGTTTCTTCTACCCGACACCTTTGCAGGGATTTGGAGATGACAATGCTGCCCTGCTTGAGCCTTTTCTTCTGTCAGCTCCACAATCCCAGCTCTCGCCACTATTCCTAAGAAATAAGGTCCCACCCCAAGGGCTCTTCCCCCTAGAGTTGCCCTCTGCAGGCCATGCTTCTTCATTTGGCACTCTCCAGGATTAGTCTGATGAGGGTGGAGAGGAGGGCCAACACCTCCCTTGTCTGGATGCTGTATCTCTGGGTTGTTTTTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGGGGCACGGTCTTGGCCTACTGTAACCTCCACCTCCCGGGTTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTAGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGACCTATATTTCTGTTATTGCATCCAGAGGTCATGATAGTTCATCTGGCAGTCATGACAGTCATTCTGGAGGCTTGTGCTGAGCTCATGAACACAGGGAATCTCACACATTGTCCCTTCTCCTATTTTAGTGTTCAAGTGTCTGCTGGCACTACTCACCAGGCAGTGGCCATACACAGGGTCACAGGAGCTGGCATGGCCATTGCAATTGCAACCAGAGCAGGTGCCCAGGTAGGGCCCACCAGGCACCCGAGTGAAGTGGGCATCACAGCTCTCGCAGGACAAGCCAGAATAGCCAATGGGGCATCTGTGGGGACAGGACCAAAAGAGTCGCTGCAAGGACGGTGAGGCCCTGCCGTTTCTCCTCTATCCTTGCTAGGGTCTCTGTGGTTCCCAGCCCTGCCGGCTCAGGCACCTGCACTCCTCCACACTGTGGGCACGGCCATGGCTGGTGGCATGGGTGACGGTGGTATCCATGGCGATGTCGCTAAGTCCCACGCTGGCCATCTTGGTGTTGTACACGGTCTGGATGAGCACGGCCTCCAGGCTCTGCAGCACCTGCAGCAGCTCCGCGCGCTGCACCGGCCGGCCAGACTCATGGACCCAGTGCTCCTGGGTATGGGTGAAGGTGGCAGGGGTCACACATCAGTGCCTACCCAGCCTAAATCCCCCTTTGCTCCCAGCCCTAAGGGCTCAGGCGCCACCCACCTCAGAGAACTGGACCTGGCGCTGGTTCAGAGCACCAGGTTGGGTGGGTGTGTGGCCTCGGGAGAGGAGGCGGTACCCGGCACCCATGAGGACCACGTCCGGCCGCTGCACTGGCTCCAGCATGCCACGGGCCAACTCGTAGCGCACGTTGTAACGCAGGGAGCCGCCATAGGAGTCCACCTGGCACAACAGGGTGGATCAGCACGGGCAGCTGTGGGCACACTTGACACCTCGTGCCTATGAGGTGCCTATAGTCTTCCAGCTCCTCCCTCACTCTGCCTACCTGAGACTTACTGTGTGCCAGGCACTGAGCTAGGCACAGGGAAACCGAGATGGGCGAGACTCAGGCCCTGACTCTAGGGTGTTTGGTCCATGGCAGGGTGTGGAATCATGCAGTGCACAGGGTACCCAGGGAAGCCAGTGCGGAGGCACAGAACCCAGCCCAGGCATGGGGGAGTGGTCAGGGAGGGCTCCCGGGAGGAGGGGAGGCCAGCTCTTCTTCCCAAGCCAACAGTGCAGGGGAGAGGTCCTGCCCTGAATGGATGAGCCGCTGCCACAGGGGGCTGCATCGGGGCATGGTAACACCTTTCCCTCCAAGTCTGCCTTGTTGTCCACCAACTGCAGAAGGAGCAGAGCCCACAGGAATTCTTTCCCCACCCAGGCCCCTCACCTTGTTGCCCAGGAACTGTTCAGGCAGAGCCCAGAAGGAGTCGTGGACGAGGAAGCGGCGGGACAGGTCGACTAGCTGGAACTCGTGCAGGGATGGGTCGATCTGCAGCTGCGTGGAGGAGAGGGGTGGCGTGCCGGGCTGCGCAGGCATTGTCACATTCACACCTGTGGGTGGCAAGGGGGAGGCTGAGGGCTGCAGCCTGGGCCTGCCTGATACACCCATCTTGAGGGGCAGCAATCCAGAAAGGTGGGAAAGTTCTAGTGGAAATTTGATTTCGAGAAAACTTTGATCTCTCTTCCAAAGTGAAGAAAATGCAGTTTTTTGCCGGGTGTGGTGGCTCACGCCTATAATGCCAGCACTTTGAGAGGCTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCATGACCAGCCTTCCCAACATGGTGAAACCTCGTCTCTACTAAAAATAAAAAAACTAGACAGGCATGGTGGTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGCAGAATCACTTGAACCCGGGAGGCGGAGGCTGCAGCGAGCTGAGATCACACCAGTGTACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAAGAAAATGCAGTTTTTTCCTCCTTCCCAAATACTGGAGCAGCATTTCCCAAAGCATGCTCTGGGAAAGTCAATGCCATGGAATGATAGCTGGGAACCATTTGGGAACCACAGGGTAAAGAAAGGACAAGGGGATTCTTTGCAGCCAGACTTCTCAGGGTCTTTCTTGCTAAGAGACCCACAGACTTTCAGGGCTGGAACAACCCTGCAGGCAGGAGAGCTACACAGGGCTGAGGAACAGGAGACCAAGTCCAGGTGTGTTGTAAGCCTGGGCAAGGGCCTCAGTTTCCTTATCTGTAAGATGGTGCTTAAAGTAGCCTGCCTCCTAGAGGTATAAGCTAAAATGAGCACATTGATATAAAATGGCTAGCTCTTATTGTTGCTGTTGTTATGATGGGTCGTCTAGTCCAACCCTCTTCTATGTACACACACACACACACACACACACACACACACACACACACACAGTCACCCTACATGGGAATTCCCTTGACAGCATCCTCCCAGATCTCTAGGACAGCTCCATCCTAGAGAACTTTCGGTGGAGTGAAAATATCCTGTACCTACACTCTTCATTACGGTAGCTGTTAGGTTGGTGAAAAAGTAATTGCTGGTTTGGTTTTGCCATTAAAAGTAATGGTACCAGCAACATGTGGCCACTGAGCACTGGAGACATGTCTTGTGCTGCTCAGGAATGAATCATTGTATTTCAATTTAAAGAGCCACACAGGGCCAGTGACTGCCACATTGGATGGTGCAGCCGTCATGGATGGAGAGCGTACAACCTCCAAAGGCCGTCCCTCCCGGCTCTGGACAACTTTGACTCTTAGCAAGTTCTTCCTTATACAGAGTCCACATCTGTCTGCCAATAGCTTCTCCCCCTCATCCTGAATTAACCCCCTGCAACCACAGGGGAATCCAGCTCCTCACCCGCAGAATGACCGAGCACAGCCCCGGGTCTAGGTTACTCAATCCTCTTTCCTCCCTGCCTTCCGGGGATGTCTTCAGGCCTCCTCCCTCCTGGTCACCATCCACACACAGGCCACCTGCTCACCCTGGAATTCCCACCACTCCCTCCCCTGGACCACCCAGATTCCAATCAGACAGCCCTGGGTTCAGCTCCCCCTCTAAACTGCTGTGTGAACCCAGGGAAGCCCCACAACATCTCAGAGCCCTGGGGCTCTCATCTTAAAACTGTGAAATCAGCCCTGACCTTGCAAGGGTTTTTGGCAGTTCGTTGACTGTCACGTCAAGCCACAGGGCCAACTGCCTGCTCACCAAATGGTGGCCACGGCCATTAGCATTGTAAATATACTGGGGGACAACTTTGGGAAGTAACTAAGTTTTGTTTTGTTTTTAGGGATGGGGTCTCACTCTGTTGTNNNNNNNNNNNNN	benign	5,242
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 23692659, gene RPL11 (ribosomal protein L11). What disease(s) is it linked to if pathogenic?	pathogenic; ['Diamond-Blackfan_anemia', 'Diamond-Blackfan_anemia_7', 'RPL11-related_disorder']	GGCGTGAGCCACCGCGCCCGGCCGCTGTTAAGTACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTATGCGAATATTCCATAATCCGGAAAAATCCCAAATCTAAAAACCGTCTGGTCCCAGGCTTTTCAGGTTAGGAATACGCACCCTGTAGTAACTTGCCCAAGGTCACATAGCTACTAGCTGGTCGAGACAGGACCACATCTGCCTGTCTTCAAGCTCGGGACTCTTAAACCACCACTCCTTTCCGTTTGTATAAATTCTATTTGTGCCCGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCCATACCAGCCCGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACAAATTAGACCGGTATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGATATCGCGCCACTGCACTTCAACCTGGGTGACACAGCGAGGCTCCGTCTCAAAAAATAAATAAATAAATAAATTATATTTGTTTACGTTGTTACAGAATAAATTTGCGTCATAATTTGCATGATTGATTTAATGTAGTTTTGGCGTTCTCATCACACAAGGACCACCAGCTCGTGACACTGGGAGGAGAGAACGTCCTCAAGGTCCGGAAACTCAAGGACGTGCTGATTCGGGAGCTTTCAAAAACTATTTTTGGAAAACCCAGATCCCGGTCTTCAGCCAGCGTCGCCTGCAGTGGCTAGCACTACCCACAAGGGAGAAGCCGACGCTGCAGGGCTTTGCCAAATGCGCCTCTCTTCCTCGTCTTCATCTCTGTGGTTAGCCTGGGAAAAGAGCCCGCCTCCTGGCCCATAAGGCCCTCGGCCGGAAGCTCCGCTTTCTCTTCCTGCTCTCCATCATGGCGGTGAGTAGCTGGGACCTGGATTTGCTTTCCTTTATCCGTCGCCATCCATGGCAGGCCGAGCCTGCGGGGGCTACTTCGCCCGCAGCCCGAGGAATATGGAGCCCGCAATGCCTGCTGGCCCAAAACTAGCAGAGCCGTTCGAGCCAAGGACGCAGGGTTGAATTCTGTCACTTTCCCTGCCATCGTTTTAGGAGCGGCTCCGGGCACTTGCCCGGAGTGCTCAGAAGCACGGTCAGGAGGCTGCAGCGGGGGCAGATGGGGTGAATGGAGGGTTCTGAGGCAGGGGGGTCCGGGCCTTTTCCTGGTCCCGGGGACTTGAGACTTGCTCGGTGCTAGGAAACCTTAGTCGGTTGCTCCGCTTAGGGAAGGTGCCAGCCTTTAGACAGCTTCCGAATAGGATGCTGGACGTCGCATAACCACGTGTTTCCTGTTAACTGAGCAATTAAGTTCTGTTTCTTCGCTCACTCCCCTTAGTTGGCCTTACAATGGGGGCGCTCTTTGTTACCCTGAGCCTCTTAGGGTTCGATCTCAGTGTCCGTATCTTTTAACACTCAATAACTGTCCTGAGTTTTCTCTTCACCCGTTCCGTTCGTGGAGGAAGGATAGGTTCCGAGCTGTCTTCTTCCCTTGATGTCCCCTAAACATTATACCTTTTAAACATTCAGGGTCTTCGTTACGATTTGGGATGAGCAGAAATAAAAATGCTGTGCAGATAGAAAGTAGTAAAACTCAGGGCCCTCAGCTGTGAGTGTATTGACTGCTGCTCTTCCCTGTTGCAGCAGGATCAAGGTGAAAAGGAGAACCCCATGCGGGAACTTCGCATCCGCAAACTCTGTCTCAACATCTGTGTTGGGGAGAGTGGAGACAGACTGACGCGAGCAGCCAAGGTGTTGGAGCAGCTCACAGGGCAGACCCCTGTGTTTTCCAAAGGTGAGTAGTCACAAGGACATACAGGGTTTGCCTGCTTGGGTCGCTTGGTTGTTTCTTGATTTACCTGCTGTCGAGTCTGTTTAGAAAGTGACAGTCGGCATCACTTAAAGCATTAAATTCATGAGCCGGCCAAGAGGTGTCTTTTTTTTTTTTTTTTATTCAAGATGGCGTGTGGGATTGGAACACTAGATTTTATTTGAGCAGATCTTAAGCTAAGACTAGCCCAAGTAAAGATTTTCCTAAGTAACTAGGATATGAGATAGAGTGGAAATGTCAGGAACGAAGTAAAGATCATTAGATCTGATTAGCAGTTAGGGTTATATAGGCTGCATTAAGAACAGGGCTGTACGGGAGCATGAGGCTTCAGTGGCCTATATTAGTGCCACTGCACTCCAGCCTGGTTGACCCTATCTCAAAAGTTGTATACAGATTGCCTGGGTTTGAGTGATGGCTTCACCATTTGCTGGTCTGACTCTGGGCTCTCTGGACCTCTGCTTTTTTCTTTGCATAAAGAGGGTAATACTTTATAATTGTGGAAGATAAAATGAGTTGTACATGTGTAGTTGCTTTAGGACAGTGAAATATGGCAAGTCTTTGGATTCCACTCCTGCTTTTTGTTACCAGCTGTGATGTTTGGCAAGTTAATAAACCTCTCAAAACCTCACCTGTAAAATATGGATAACAGTACAATAAGGTTTCAGCAAATAGTAGATGTTGTCAATAATGCTTTGTTTTCTTTGGAACATGATAATCTTACTAGTGGCTTCTTCGGCCTATTCTGGTTGTGACCTTGCCCTTCCTGGAACTTCGGCGTTATGACTGTTCTTAACTGCTGAAGGATGGCTGGATGTCTGGAAATGGGAAAATCTGTGCTGTGGATGAAATCTTATTAATAGATGTGGGAGACACTAATTAGAACACCACAACTTAAAAGAGTGTGGATGAATGCTTAATGTCTCTTTAAGTCATGGAGATGGTGTTCTGGGAAAGAGGTGAGTGTAGTGGGGGTATGATGGCATCTGACTCCTTGTTACCCACTTCCTGCAGCTAGATACACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAA	GGCGTGAGCCACCGCGCCCGGCCGCTGTTAAGTACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTATGCGAATATTCCATAATCCGGAAAAATCCCAAATCTAAAAACCGTCTGGTCCCAGGCTTTTCAGGTTAGGAATACGCACCCTGTAGTAACTTGCCCAAGGTCACATAGCTACTAGCTGGTCGAGACAGGACCACATCTGCCTGTCTTCAAGCTCGGGACTCTTAAACCACCACTCCTTTCCGTTTGTATAAATTCTATTTGTGCCCGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCCATACCAGCCCGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACAAATTAGACCGGTATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGATATCGCGCCACTGCACTTCAACCTGGGTGACACAGCGAGGCTCCGTCTCAAAAAATAAATAAATAAATAAATTATATTTGTTTACGTTGTTACAGAATAAATTTGCGTCATAATTTGCATGATTGATTTAATGTAGTTTTGGCGTTCTCATCACACAAGGACCACCAGCTCGTGACACTGGGAGGAGAGAACGTCCTCAAGGTCCGGAAACTCAAGGACGTGCTGATTCGGGAGCTTTCAAAAACTATTTTTGGAAAACCCAGATCCCGGTCTTCAGCCAGCGTCGCCTGCAGTGGCTAGCACTACCCACAAGGGAGAAGCCGACGCTGCAGGGCTTTGCCAAATGCGCCTCTCTTCCTCGTCTTCATCTCTGTGGTTAGCCTGGGAAAAGAGCCCGCCTCCTGGCCCATAAGGCCCTCGGCCGGAAGCTCCGCTTTCTCTTCCTGCTCTCCATCATGGCGGTGAGTAGCTGGGACCTGGATTTGCTTTCCTTTATCCGTCGCCATCCATGGCAGGCCGAGCCTGCGGGGGCTACTTCGCCCGCAGCCCGAGGAATATGGAGCCCGCAATGCCTGCTGGCCCAAAACTAGCAGAGCCGTTCGAGCCAAGGACGCAGGGTTGAATTCTGTCACTTTCCCTGCCATCGTTTTAGGAGCGGCTCCGGGCACTTGCCCGGAGTGCTCAGAAGCACGGTCAGGAGGCTGCAGCGGGGGCAGATGGGGTGAATGGAGGGTTCTGAGGCAGGGGGGTCCGGGCCTTTTCCTGGTCCCGGGGACTTGAGACTTGCTCGGTGCTAGGAAACCTTAGTCGGTTGCTCCGCTTAGGGAAGGTGCCAGCCTTTAGACAGCTTCCGAATAGGATGCTGGACGTCGCATAACCACGTGTTTCCTGTTAACTGAGCAATTAAGTTCTGTTTCTTCGCTCACTCCCCTTAGTTGGCCTTACAATGGGGGCGCTCTTTGTTACCCTGAGCCTCTTAGGGTTCGATCTCAGTGTCCGTATCTTTTAACACTCAATAACTGTCCTGAGTTTTCTCTTCACCCGTTCCGTTCGTGGAGGAAGGATAGGTTCCGAGCTGTCTTCTTCCCTTGATGTCCCCTAAACATTATACCTTTTAAACATTCAGGGTCTTCGTTACGATTTGGGATGAGCAGAAATAAAAATGCTGTGCAGATAGAAAGTAGTAAAACTCAGGGCCCTCAGCTGTGAGTGTATTGACTGCTGCTCTTCCCTGTTGCAGCAGGATCAAGGTGAAAAGGAGAACCCCATGCGGGAACTTCGCATCCGCAAACTGTCTCAACATCTGTGTTGGGGAGAGTGGAGACAGACTGACGCGAGCAGCCAAGGTGTTGGAGCAGCTCACAGGGCAGACCCCTGTGTTTTCCAAAGGTGAGTAGTCACAAGGACATACAGGGTTTGCCTGCTTGGGTCGCTTGGTTGTTTCTTGATTTACCTGCTGTCGAGTCTGTTTAGAAAGTGACAGTCGGCATCACTTAAAGCATTAAATTCATGAGCCGGCCAAGAGGTGTCTTTTTTTTTTTTTTTTATTCAAGATGGCGTGTGGGATTGGAACACTAGATTTTATTTGAGCAGATCTTAAGCTAAGACTAGCCCAAGTAAAGATTTTCCTAAGTAACTAGGATATGAGATAGAGTGGAAATGTCAGGAACGAAGTAAAGATCATTAGATCTGATTAGCAGTTAGGGTTATATAGGCTGCATTAAGAACAGGGCTGTACGGGAGCATGAGGCTTCAGTGGCCTATATTAGTGCCACTGCACTCCAGCCTGGTTGACCCTATCTCAAAAGTTGTATACAGATTGCCTGGGTTTGAGTGATGGCTTCACCATTTGCTGGTCTGACTCTGGGCTCTCTGGACCTCTGCTTTTTTCTTTGCATAAAGAGGGTAATACTTTATAATTGTGGAAGATAAAATGAGTTGTACATGTGTAGTTGCTTTAGGACAGTGAAATATGGCAAGTCTTTGGATTCCACTCCTGCTTTTTGTTACCAGCTGTGATGTTTGGCAAGTTAATAAACCTCTCAAAACCTCACCTGTAAAATATGGATAACAGTACAATAAGGTTTCAGCAAATAGTAGATGTTGTCAATAATGCTTTGTTTTCTTTGGAACATGATAATCTTACTAGTGGCTTCTTCGGCCTATTCTGGTTGTGACCTTGCCCTTCCTGGAACTTCGGCGTTATGACTGTTCTTAACTGCTGAAGGATGGCTGGATGTCTGGAAATGGGAAAATCTGTGCTGTGGATGAAATCTTATTAATAGATGTGGGAGACACTAATTAGAACACCACAACTTAAAAGAGTGTGGATGAATGCTTAATGTCTCTTTAAGTCATGGAGATGGTGTTCTGGGAAAGAGGTGAGTGTAGTGGGGGTATGATGGCATCTGACTCCTTGTTACCCACTTCCTGCAGCTAGATACACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAANN	pathogenic	5,481
Evaluate this variant at chromosome 1, position 23692662, gene RPL11 (ribosomal protein L11): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Diamond-Blackfan_anemia']	GTGAGCCACCGCGCCCGGCCGCTGTTAAGTACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTATGCGAATATTCCATAATCCGGAAAAATCCCAAATCTAAAAACCGTCTGGTCCCAGGCTTTTCAGGTTAGGAATACGCACCCTGTAGTAACTTGCCCAAGGTCACATAGCTACTAGCTGGTCGAGACAGGACCACATCTGCCTGTCTTCAAGCTCGGGACTCTTAAACCACCACTCCTTTCCGTTTGTATAAATTCTATTTGTGCCCGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCCATACCAGCCCGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACAAATTAGACCGGTATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGATATCGCGCCACTGCACTTCAACCTGGGTGACACAGCGAGGCTCCGTCTCAAAAAATAAATAAATAAATAAATTATATTTGTTTACGTTGTTACAGAATAAATTTGCGTCATAATTTGCATGATTGATTTAATGTAGTTTTGGCGTTCTCATCACACAAGGACCACCAGCTCGTGACACTGGGAGGAGAGAACGTCCTCAAGGTCCGGAAACTCAAGGACGTGCTGATTCGGGAGCTTTCAAAAACTATTTTTGGAAAACCCAGATCCCGGTCTTCAGCCAGCGTCGCCTGCAGTGGCTAGCACTACCCACAAGGGAGAAGCCGACGCTGCAGGGCTTTGCCAAATGCGCCTCTCTTCCTCGTCTTCATCTCTGTGGTTAGCCTGGGAAAAGAGCCCGCCTCCTGGCCCATAAGGCCCTCGGCCGGAAGCTCCGCTTTCTCTTCCTGCTCTCCATCATGGCGGTGAGTAGCTGGGACCTGGATTTGCTTTCCTTTATCCGTCGCCATCCATGGCAGGCCGAGCCTGCGGGGGCTACTTCGCCCGCAGCCCGAGGAATATGGAGCCCGCAATGCCTGCTGGCCCAAAACTAGCAGAGCCGTTCGAGCCAAGGACGCAGGGTTGAATTCTGTCACTTTCCCTGCCATCGTTTTAGGAGCGGCTCCGGGCACTTGCCCGGAGTGCTCAGAAGCACGGTCAGGAGGCTGCAGCGGGGGCAGATGGGGTGAATGGAGGGTTCTGAGGCAGGGGGGTCCGGGCCTTTTCCTGGTCCCGGGGACTTGAGACTTGCTCGGTGCTAGGAAACCTTAGTCGGTTGCTCCGCTTAGGGAAGGTGCCAGCCTTTAGACAGCTTCCGAATAGGATGCTGGACGTCGCATAACCACGTGTTTCCTGTTAACTGAGCAATTAAGTTCTGTTTCTTCGCTCACTCCCCTTAGTTGGCCTTACAATGGGGGCGCTCTTTGTTACCCTGAGCCTCTTAGGGTTCGATCTCAGTGTCCGTATCTTTTAACACTCAATAACTGTCCTGAGTTTTCTCTTCACCCGTTCCGTTCGTGGAGGAAGGATAGGTTCCGAGCTGTCTTCTTCCCTTGATGTCCCCTAAACATTATACCTTTTAAACATTCAGGGTCTTCGTTACGATTTGGGATGAGCAGAAATAAAAATGCTGTGCAGATAGAAAGTAGTAAAACTCAGGGCCCTCAGCTGTGAGTGTATTGACTGCTGCTCTTCCCTGTTGCAGCAGGATCAAGGTGAAAAGGAGAACCCCATGCGGGAACTTCGCATCCGCAAACTCTGTCTCAACATCTGTGTTGGGGAGAGTGGAGACAGACTGACGCGAGCAGCCAAGGTGTTGGAGCAGCTCACAGGGCAGACCCCTGTGTTTTCCAAAGGTGAGTAGTCACAAGGACATACAGGGTTTGCCTGCTTGGGTCGCTTGGTTGTTTCTTGATTTACCTGCTGTCGAGTCTGTTTAGAAAGTGACAGTCGGCATCACTTAAAGCATTAAATTCATGAGCCGGCCAAGAGGTGTCTTTTTTTTTTTTTTTTATTCAAGATGGCGTGTGGGATTGGAACACTAGATTTTATTTGAGCAGATCTTAAGCTAAGACTAGCCCAAGTAAAGATTTTCCTAAGTAACTAGGATATGAGATAGAGTGGAAATGTCAGGAACGAAGTAAAGATCATTAGATCTGATTAGCAGTTAGGGTTATATAGGCTGCATTAAGAACAGGGCTGTACGGGAGCATGAGGCTTCAGTGGCCTATATTAGTGCCACTGCACTCCAGCCTGGTTGACCCTATCTCAAAAGTTGTATACAGATTGCCTGGGTTTGAGTGATGGCTTCACCATTTGCTGGTCTGACTCTGGGCTCTCTGGACCTCTGCTTTTTTCTTTGCATAAAGAGGGTAATACTTTATAATTGTGGAAGATAAAATGAGTTGTACATGTGTAGTTGCTTTAGGACAGTGAAATATGGCAAGTCTTTGGATTCCACTCCTGCTTTTTGTTACCAGCTGTGATGTTTGGCAAGTTAATAAACCTCTCAAAACCTCACCTGTAAAATATGGATAACAGTACAATAAGGTTTCAGCAAATAGTAGATGTTGTCAATAATGCTTTGTTTTCTTTGGAACATGATAATCTTACTAGTGGCTTCTTCGGCCTATTCTGGTTGTGACCTTGCCCTTCCTGGAACTTCGGCGTTATGACTGTTCTTAACTGCTGAAGGATGGCTGGATGTCTGGAAATGGGAAAATCTGTGCTGTGGATGAAATCTTATTAATAGATGTGGGAGACACTAATTAGAACACCACAACTTAAAAGAGTGTGGATGAATGCTTAATGTCTCTTTAAGTCATGGAGATGGTGTTCTGGGAAAGAGGTGAGTGTAGTGGGGGTATGATGGCATCTGACTCCTTGTTACCCACTTCCTGCAGCTAGATACACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAACTT	GTGAGCCACCGCGCCCGGCCGCTGTTAAGTACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTATGCGAATATTCCATAATCCGGAAAAATCCCAAATCTAAAAACCGTCTGGTCCCAGGCTTTTCAGGTTAGGAATACGCACCCTGTAGTAACTTGCCCAAGGTCACATAGCTACTAGCTGGTCGAGACAGGACCACATCTGCCTGTCTTCAAGCTCGGGACTCTTAAACCACCACTCCTTTCCGTTTGTATAAATTCTATTTGTGCCCGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCCATACCAGCCCGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACAAATTAGACCGGTATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGATATCGCGCCACTGCACTTCAACCTGGGTGACACAGCGAGGCTCCGTCTCAAAAAATAAATAAATAAATAAATTATATTTGTTTACGTTGTTACAGAATAAATTTGCGTCATAATTTGCATGATTGATTTAATGTAGTTTTGGCGTTCTCATCACACAAGGACCACCAGCTCGTGACACTGGGAGGAGAGAACGTCCTCAAGGTCCGGAAACTCAAGGACGTGCTGATTCGGGAGCTTTCAAAAACTATTTTTGGAAAACCCAGATCCCGGTCTTCAGCCAGCGTCGCCTGCAGTGGCTAGCACTACCCACAAGGGAGAAGCCGACGCTGCAGGGCTTTGCCAAATGCGCCTCTCTTCCTCGTCTTCATCTCTGTGGTTAGCCTGGGAAAAGAGCCCGCCTCCTGGCCCATAAGGCCCTCGGCCGGAAGCTCCGCTTTCTCTTCCTGCTCTCCATCATGGCGGTGAGTAGCTGGGACCTGGATTTGCTTTCCTTTATCCGTCGCCATCCATGGCAGGCCGAGCCTGCGGGGGCTACTTCGCCCGCAGCCCGAGGAATATGGAGCCCGCAATGCCTGCTGGCCCAAAACTAGCAGAGCCGTTCGAGCCAAGGACGCAGGGTTGAATTCTGTCACTTTCCCTGCCATCGTTTTAGGAGCGGCTCCGGGCACTTGCCCGGAGTGCTCAGAAGCACGGTCAGGAGGCTGCAGCGGGGGCAGATGGGGTGAATGGAGGGTTCTGAGGCAGGGGGGTCCGGGCCTTTTCCTGGTCCCGGGGACTTGAGACTTGCTCGGTGCTAGGAAACCTTAGTCGGTTGCTCCGCTTAGGGAAGGTGCCAGCCTTTAGACAGCTTCCGAATAGGATGCTGGACGTCGCATAACCACGTGTTTCCTGTTAACTGAGCAATTAAGTTCTGTTTCTTCGCTCACTCCCCTTAGTTGGCCTTACAATGGGGGCGCTCTTTGTTACCCTGAGCCTCTTAGGGTTCGATCTCAGTGTCCGTATCTTTTAACACTCAATAACTGTCCTGAGTTTTCTCTTCACCCGTTCCGTTCGTGGAGGAAGGATAGGTTCCGAGCTGTCTTCTTCCCTTGATGTCCCCTAAACATTATACCTTTTAAACATTCAGGGTCTTCGTTACGATTTGGGATGAGCAGAAATAAAAATGCTGTGCAGATAGAAAGTAGTAAAACTCAGGGCCCTCAGCTGTGAGTGTATTGACTGCTGCTCTTCCCTGTTGCAGCAGGATCAAGGTGAAAAGGAGAACCCCATGCGGGAACTTCGCATCCGCAAACTCTCTCAACATCTGTGTTGGGGAGAGTGGAGACAGACTGACGCGAGCAGCCAAGGTGTTGGAGCAGCTCACAGGGCAGACCCCTGTGTTTTCCAAAGGTGAGTAGTCACAAGGACATACAGGGTTTGCCTGCTTGGGTCGCTTGGTTGTTTCTTGATTTACCTGCTGTCGAGTCTGTTTAGAAAGTGACAGTCGGCATCACTTAAAGCATTAAATTCATGAGCCGGCCAAGAGGTGTCTTTTTTTTTTTTTTTTATTCAAGATGGCGTGTGGGATTGGAACACTAGATTTTATTTGAGCAGATCTTAAGCTAAGACTAGCCCAAGTAAAGATTTTCCTAAGTAACTAGGATATGAGATAGAGTGGAAATGTCAGGAACGAAGTAAAGATCATTAGATCTGATTAGCAGTTAGGGTTATATAGGCTGCATTAAGAACAGGGCTGTACGGGAGCATGAGGCTTCAGTGGCCTATATTAGTGCCACTGCACTCCAGCCTGGTTGACCCTATCTCAAAAGTTGTATACAGATTGCCTGGGTTTGAGTGATGGCTTCACCATTTGCTGGTCTGACTCTGGGCTCTCTGGACCTCTGCTTTTTTCTTTGCATAAAGAGGGTAATACTTTATAATTGTGGAAGATAAAATGAGTTGTACATGTGTAGTTGCTTTAGGACAGTGAAATATGGCAAGTCTTTGGATTCCACTCCTGCTTTTTGTTACCAGCTGTGATGTTTGGCAAGTTAATAAACCTCTCAAAACCTCACCTGTAAAATATGGATAACAGTACAATAAGGTTTCAGCAAATAGTAGATGTTGTCAATAATGCTTTGTTTTCTTTGGAACATGATAATCTTACTAGTGGCTTCTTCGGCCTATTCTGGTTGTGACCTTGCCCTTCCTGGAACTTCGGCGTTATGACTGTTCTTAACTGCTGAAGGATGGCTGGATGTCTGGAAATGGGAAAATCTGTGCTGTGGATGAAATCTTATTAATAGATGTGGGAGACACTAATTAGAACACCACAACTTAAAAGAGTGTGGATGAATGCTTAATGTCTCTTTAAGTCATGGAGATGGTGTTCTGGGAAAGAGGTGAGTGTAGTGGGGGTATGATGGCATCTGACTCCTTGTTACCCACTTCCTGCAGCTAGATACACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAACTTNN	pathogenic	5,482
Mutation at chromosome 1, position 23692691, within RPL11 (ribosomal protein L11): benign or pathogenic? If pathogenic, indicate the disease(s).	pathogenic; ['Diamond-Blackfan_anemia_7']	TACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTATGCGAATATTCCATAATCCGGAAAAATCCCAAATCTAAAAACCGTCTGGTCCCAGGCTTTTCAGGTTAGGAATACGCACCCTGTAGTAACTTGCCCAAGGTCACATAGCTACTAGCTGGTCGAGACAGGACCACATCTGCCTGTCTTCAAGCTCGGGACTCTTAAACCACCACTCCTTTCCGTTTGTATAAATTCTATTTGTGCCCGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCCATACCAGCCCGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACAAATTAGACCGGTATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGATATCGCGCCACTGCACTTCAACCTGGGTGACACAGCGAGGCTCCGTCTCAAAAAATAAATAAATAAATAAATTATATTTGTTTACGTTGTTACAGAATAAATTTGCGTCATAATTTGCATGATTGATTTAATGTAGTTTTGGCGTTCTCATCACACAAGGACCACCAGCTCGTGACACTGGGAGGAGAGAACGTCCTCAAGGTCCGGAAACTCAAGGACGTGCTGATTCGGGAGCTTTCAAAAACTATTTTTGGAAAACCCAGATCCCGGTCTTCAGCCAGCGTCGCCTGCAGTGGCTAGCACTACCCACAAGGGAGAAGCCGACGCTGCAGGGCTTTGCCAAATGCGCCTCTCTTCCTCGTCTTCATCTCTGTGGTTAGCCTGGGAAAAGAGCCCGCCTCCTGGCCCATAAGGCCCTCGGCCGGAAGCTCCGCTTTCTCTTCCTGCTCTCCATCATGGCGGTGAGTAGCTGGGACCTGGATTTGCTTTCCTTTATCCGTCGCCATCCATGGCAGGCCGAGCCTGCGGGGGCTACTTCGCCCGCAGCCCGAGGAATATGGAGCCCGCAATGCCTGCTGGCCCAAAACTAGCAGAGCCGTTCGAGCCAAGGACGCAGGGTTGAATTCTGTCACTTTCCCTGCCATCGTTTTAGGAGCGGCTCCGGGCACTTGCCCGGAGTGCTCAGAAGCACGGTCAGGAGGCTGCAGCGGGGGCAGATGGGGTGAATGGAGGGTTCTGAGGCAGGGGGGTCCGGGCCTTTTCCTGGTCCCGGGGACTTGAGACTTGCTCGGTGCTAGGAAACCTTAGTCGGTTGCTCCGCTTAGGGAAGGTGCCAGCCTTTAGACAGCTTCCGAATAGGATGCTGGACGTCGCATAACCACGTGTTTCCTGTTAACTGAGCAATTAAGTTCTGTTTCTTCGCTCACTCCCCTTAGTTGGCCTTACAATGGGGGCGCTCTTTGTTACCCTGAGCCTCTTAGGGTTCGATCTCAGTGTCCGTATCTTTTAACACTCAATAACTGTCCTGAGTTTTCTCTTCACCCGTTCCGTTCGTGGAGGAAGGATAGGTTCCGAGCTGTCTTCTTCCCTTGATGTCCCCTAAACATTATACCTTTTAAACATTCAGGGTCTTCGTTACGATTTGGGATGAGCAGAAATAAAAATGCTGTGCAGATAGAAAGTAGTAAAACTCAGGGCCCTCAGCTGTGAGTGTATTGACTGCTGCTCTTCCCTGTTGCAGCAGGATCAAGGTGAAAAGGAGAACCCCATGCGGGAACTTCGCATCCGCAAACTCTGTCTCAACATCTGTGTTGGGGAGAGTGGAGACAGACTGACGCGAGCAGCCAAGGTGTTGGAGCAGCTCACAGGGCAGACCCCTGTGTTTTCCAAAGGTGAGTAGTCACAAGGACATACAGGGTTTGCCTGCTTGGGTCGCTTGGTTGTTTCTTGATTTACCTGCTGTCGAGTCTGTTTAGAAAGTGACAGTCGGCATCACTTAAAGCATTAAATTCATGAGCCGGCCAAGAGGTGTCTTTTTTTTTTTTTTTTATTCAAGATGGCGTGTGGGATTGGAACACTAGATTTTATTTGAGCAGATCTTAAGCTAAGACTAGCCCAAGTAAAGATTTTCCTAAGTAACTAGGATATGAGATAGAGTGGAAATGTCAGGAACGAAGTAAAGATCATTAGATCTGATTAGCAGTTAGGGTTATATAGGCTGCATTAAGAACAGGGCTGTACGGGAGCATGAGGCTTCAGTGGCCTATATTAGTGCCACTGCACTCCAGCCTGGTTGACCCTATCTCAAAAGTTGTATACAGATTGCCTGGGTTTGAGTGATGGCTTCACCATTTGCTGGTCTGACTCTGGGCTCTCTGGACCTCTGCTTTTTTCTTTGCATAAAGAGGGTAATACTTTATAATTGTGGAAGATAAAATGAGTTGTACATGTGTAGTTGCTTTAGGACAGTGAAATATGGCAAGTCTTTGGATTCCACTCCTGCTTTTTGTTACCAGCTGTGATGTTTGGCAAGTTAATAAACCTCTCAAAACCTCACCTGTAAAATATGGATAACAGTACAATAAGGTTTCAGCAAATAGTAGATGTTGTCAATAATGCTTTGTTTTCTTTGGAACATGATAATCTTACTAGTGGCTTCTTCGGCCTATTCTGGTTGTGACCTTGCCCTTCCTGGAACTTCGGCGTTATGACTGTTCTTAACTGCTGAAGGATGGCTGGATGTCTGGAAATGGGAAAATCTGTGCTGTGGATGAAATCTTATTAATAGATGTGGGAGACACTAATTAGAACACCACAACTTAAAAGAGTGTGGATGAATGCTTAATGTCTCTTTAAGTCATGGAGATGGTGTTCTGGGAAAGAGGTGAGTGTAGTGGGGGTATGATGGCATCTGACTCCTTGTTACCCACTTCCTGCAGCTAGATACACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAACTTTGGTTTTGGGATCCAGGAACACATCGATC	TACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTATGCGAATATTCCATAATCCGGAAAAATCCCAAATCTAAAAACCGTCTGGTCCCAGGCTTTTCAGGTTAGGAATACGCACCCTGTAGTAACTTGCCCAAGGTCACATAGCTACTAGCTGGTCGAGACAGGACCACATCTGCCTGTCTTCAAGCTCGGGACTCTTAAACCACCACTCCTTTCCGTTTGTATAAATTCTATTTGTGCCCGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCCATACCAGCCCGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACAAATTAGACCGGTATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGATATCGCGCCACTGCACTTCAACCTGGGTGACACAGCGAGGCTCCGTCTCAAAAAATAAATAAATAAATAAATTATATTTGTTTACGTTGTTACAGAATAAATTTGCGTCATAATTTGCATGATTGATTTAATGTAGTTTTGGCGTTCTCATCACACAAGGACCACCAGCTCGTGACACTGGGAGGAGAGAACGTCCTCAAGGTCCGGAAACTCAAGGACGTGCTGATTCGGGAGCTTTCAAAAACTATTTTTGGAAAACCCAGATCCCGGTCTTCAGCCAGCGTCGCCTGCAGTGGCTAGCACTACCCACAAGGGAGAAGCCGACGCTGCAGGGCTTTGCCAAATGCGCCTCTCTTCCTCGTCTTCATCTCTGTGGTTAGCCTGGGAAAAGAGCCCGCCTCCTGGCCCATAAGGCCCTCGGCCGGAAGCTCCGCTTTCTCTTCCTGCTCTCCATCATGGCGGTGAGTAGCTGGGACCTGGATTTGCTTTCCTTTATCCGTCGCCATCCATGGCAGGCCGAGCCTGCGGGGGCTACTTCGCCCGCAGCCCGAGGAATATGGAGCCCGCAATGCCTGCTGGCCCAAAACTAGCAGAGCCGTTCGAGCCAAGGACGCAGGGTTGAATTCTGTCACTTTCCCTGCCATCGTTTTAGGAGCGGCTCCGGGCACTTGCCCGGAGTGCTCAGAAGCACGGTCAGGAGGCTGCAGCGGGGGCAGATGGGGTGAATGGAGGGTTCTGAGGCAGGGGGGTCCGGGCCTTTTCCTGGTCCCGGGGACTTGAGACTTGCTCGGTGCTAGGAAACCTTAGTCGGTTGCTCCGCTTAGGGAAGGTGCCAGCCTTTAGACAGCTTCCGAATAGGATGCTGGACGTCGCATAACCACGTGTTTCCTGTTAACTGAGCAATTAAGTTCTGTTTCTTCGCTCACTCCCCTTAGTTGGCCTTACAATGGGGGCGCTCTTTGTTACCCTGAGCCTCTTAGGGTTCGATCTCAGTGTCCGTATCTTTTAACACTCAATAACTGTCCTGAGTTTTCTCTTCACCCGTTCCGTTCGTGGAGGAAGGATAGGTTCCGAGCTGTCTTCTTCCCTTGATGTCCCCTAAACATTATACCTTTTAAACATTCAGGGTCTTCGTTACGATTTGGGATGAGCAGAAATAAAAATGCTGTGCAGATAGAAAGTAGTAAAACTCAGGGCCCTCAGCTGTGAGTGTATTGACTGCTGCTCTTCCCTGTTGCAGCAGGATCAAGGTGAAAAGGAGAACCCCATGCGGGAACTTCGCATCCGCAAACTCTGTCTCAACATCTGTGTTGGGGAGAGTGGAGACTGACGCGAGCAGCCAAGGTGTTGGAGCAGCTCACAGGGCAGACCCCTGTGTTTTCCAAAGGTGAGTAGTCACAAGGACATACAGGGTTTGCCTGCTTGGGTCGCTTGGTTGTTTCTTGATTTACCTGCTGTCGAGTCTGTTTAGAAAGTGACAGTCGGCATCACTTAAAGCATTAAATTCATGAGCCGGCCAAGAGGTGTCTTTTTTTTTTTTTTTTATTCAAGATGGCGTGTGGGATTGGAACACTAGATTTTATTTGAGCAGATCTTAAGCTAAGACTAGCCCAAGTAAAGATTTTCCTAAGTAACTAGGATATGAGATAGAGTGGAAATGTCAGGAACGAAGTAAAGATCATTAGATCTGATTAGCAGTTAGGGTTATATAGGCTGCATTAAGAACAGGGCTGTACGGGAGCATGAGGCTTCAGTGGCCTATATTAGTGCCACTGCACTCCAGCCTGGTTGACCCTATCTCAAAAGTTGTATACAGATTGCCTGGGTTTGAGTGATGGCTTCACCATTTGCTGGTCTGACTCTGGGCTCTCTGGACCTCTGCTTTTTTCTTTGCATAAAGAGGGTAATACTTTATAATTGTGGAAGATAAAATGAGTTGTACATGTGTAGTTGCTTTAGGACAGTGAAATATGGCAAGTCTTTGGATTCCACTCCTGCTTTTTGTTACCAGCTGTGATGTTTGGCAAGTTAATAAACCTCTCAAAACCTCACCTGTAAAATATGGATAACAGTACAATAAGGTTTCAGCAAATAGTAGATGTTGTCAATAATGCTTTGTTTTCTTTGGAACATGATAATCTTACTAGTGGCTTCTTCGGCCTATTCTGGTTGTGACCTTGCCCTTCCTGGAACTTCGGCGTTATGACTGTTCTTAACTGCTGAAGGATGGCTGGATGTCTGGAAATGGGAAAATCTGTGCTGTGGATGAAATCTTATTAATAGATGTGGGAGACACTAATTAGAACACCACAACTTAAAAGAGTGTGGATGAATGCTTAATGTCTCTTTAAGTCATGGAGATGGTGTTCTGGGAAAGAGGTGAGTGTAGTGGGGGTATGATGGCATCTGACTCCTTGTTACCCACTTCCTGCAGCTAGATACACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAACTTTGGTTTTGGGATCCAGGAACACATCGATCNNNN	pathogenic	5,484
A genetic variant at chromosome 1, position 23695862, affecting gene RPL11 (ribosomal protein L11)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).	pathogenic; ['Diamond-Blackfan_anemia', 'Diamond-Blackfan_anemia_7']	CACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAACTTTGGTTTTGGGATCCAGGAACACATCGATCTGGGTATCAAATATGACCCAAGCATTGGTATCTACGGCCTGGACTTCTATGTGGTATGAATATTTAATCTTTTCCCGCTCCTGGTCTGTGAGGAGAGGGGAATCTTTATTTCATATGTGGTATGTTGGTGTTCACATGTTGAGTTGCAGCTTTGAATATTGTCTGCCTTTGTGTTCTCCTCCCCCTTGGGGAAATGTGCCTCATTTGTGGCAAATGTAGGGGTGCAGCTCTGAACAAGGTGGACAAGATCCCTGCTGTTGGGGAACTTGCAGTCGAGGATCTGTAAAGCACCCACATGGCTTAAAGGTGGATGAAGGAAACTGTTCCCTCCAGCCAGTGATTTGAAACTTTGGAGAGAGGCAGTATTGGTGCCACATTTGGCCTATGGGTTGGTTGGCTGCACTGAGGCTGTTCTCCCCCTGGTTCTTCCTATAGAAACAGCTTTGGGTGATGCAGTGGTTTGCTCAGGAAGGGGGTTTTAACATAGAAATGACCTTTTGTGTTACTGCCGTGTTTTGGTCCAACAATAAAACTGAATAGCCTAAATCAGAAGTCCTGACTAGTGTGGAACCTGAAAGATGGTGGCACCCTCATTAGACAGACAAGTAATAAGACTTGGATACTCACAGGATGTTGGAGGAACAGCACACCTTTGGGAAGCATTTTTGAGCTGAAGCAGAAGGAAGAAAATATATATATTTGTGCTTCTCAGAGTTGTATGTTTTCTACACTGCTGGTGTGGCAATAGATTTTTAAATGTTACTTTTAAAAAGAAAAATGGAGATTTGGGAGCAGTAATGGAGGATCCTCAGCACCACTGGAAAATAGGCTGGGTTAGGGGGGTGCTGAAAGTTCCAGCCTCCAAAGCAAACTTACAGTATGGCTGTGTGTTGCGTGGGATGCTGGTGGCAGCTTTGTCAGACACAGATCATGGGTCTTGCTCCAGAATCCATTGGGCTGCCAAGTGACTCTTTGAAGATCTGTCTGTAATGTGTGAGTCTTGTCCATCTGCTCTTGACTCTGAGCTGGCTAGGTGACTGTTGGTTATTCCTGGGACAGGTGCTGGGTAGGCCAGGTTTCAGCATCGCAGACAAGAAGCGCAGGACAGGCTGCATTGGGGCCAAACACAGAATCAGCAAAGAGGAGGCCATGCGCTGGTTCCAGCAGAAGGTAAAGCTGATTTATCTCAAGTGAAGTGGTGGAATGTGATGTTGGTGAATGGAGTTGGGATTTGGGGATGCAAAATATAGTACTATTTGCTGGGTATCTTCTTTAAAGTTAGAATATTGGGCATCTTGACAAATCAGGGGCTTCCAGGGATGATGGTTTAAAAGAACATCCAGAACTAGGCCTTCTCCCTGTCACCATGAATGGGGGTAGATGGAAGGGGAGGAATATGGCTTTTAACAGGAGCCCCCTTTCTCAGATGATAGTGCAGTTCAGCACAGTGTAAAAACCAGCCAGCTTCCTATTTAGTCCAGAAAAGGATGGGATTCAGAGCCCAAGTTCATGTATCAATCAGATGTGAATTCTCAAAAGTTAGCCATTGCTGCAATCTCTGCTGTTGCCTCCTGTTCTGAAAAAATTAAATCTCTTCTCTTTCAGTATGATGGGATCATCCTTCCTGGCAAATAAATTCCCGTTTCTATCCAAAAGAGCAATAAAAAGTTTTCAGTGAAATGTGCAATTCTGTTGTGTGTTCTGTGAAAGGATCCTGGCCATATTCAAGTCCTTGGACCTCAAGCCACTTAAAGCTTCGATGGGAGTAGCTGGTAACAACCCCGTCATCCTCTGATTGGATGCCAGTATTTCCTGGCAGATCCAAGTCCAAGCTTCATAGCATTCATTGCCTGTGCTTGCCACACCTTGGTTGATGTGCTGTGGTGCAGTAGCCCCATTTGGAGGGGAGGGTTTGGTTGATGTTGGGGTTTGAATTTAGAGCCTTGGTTAAGCAGGGTGCAGTGCTCCTGTGTTCCAGGAGGCCCCCTGCTATTCAGTGATTCTGTTCTGTACTAGAAATTTTATCAGCATTGATGCGTCATGAAGGAATGACAGGCTTTGGTGTGATGGTTGAGATTAAATTTAGACTTAACTGTTCAGGCTCAGGTTTCTTTTACAATGAGAGTATAAGGTTCTTGGGAGGCAGTATGTGCAGATAAGAGGGCAGTCTTTCCGTTTCCAGCCCTTTCCTTTAACTGTTACCTCGGGTGAGTTGTTAATCTGCCTCAGTTTCCTTATCTGTATCAGGAGGCAGTAATAGTAGTATCTCTCAGAGGATTAAATGATTTAATACTTAACAAAATGCTCAGACTAGCACCAGCCACGTAGTGCTCAAAAGGGGTTTCATTTTTGTGTTTGGGTATAAGAAATATTACTTCTGCTAGCTTGCTTCCCTTTGGTGCAAAAATGAAAATACTTTCCCTGTGGTGATTGTCTTTTTTTTTTTTTTTTTTTTTTGAGACGAGTCTTGCTCTGTTGCCTGGGCTGGAGTGCAGTGGCGCGATCTCACTGCAAGCTCTGCCTCTGGGTTCACGCCGTTCTCCTGCCTCATCCTCCCGAGTAGCTGGGACTACAGGCGTCTGCCACCACGCCCGGCTGATTTTTTTTATTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGAAGGTCTAGATCTTCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCATCGCGCCCGGCCCCTGTAGTGATTTTCTATATCTAACTGAAGTCGATGCTCAAAAGCCGCCATTTTTGTTTGTTTGTTTTTGGTGGTGGTTTTTTTTGAGACAGAGTCTCTTTGTCACCCAGGCTGGAGTGTGCAGTGGCATGATCTCTGCAACCTCCGCCTCCTGGGTTCAAGCAATCCTCCCACCTCGGCGTCCCGAGTAATTAGGATTACAGCCATCCACCACCACGCCCAGCTAGTGTTTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTTGAACTCACCATCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGGCAAAAGCCATCATTTTTCTGACGCAATACTTGGCCATTGGTTCATCATTTTCAATTTCAGGTTTAAATTTTGGAGCGCATGTTAATTCAGTTAGATAATTTACTAATTTGTGACT	CACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAACTTTGGTTTTGGGATCCAGGAACACATCGATCTGGGTATCAAATATGACCCAAGCATTGGTATCTACGGCCTGGACTTCTATGTGGTATGAATATTTAATCTTTTCCCGCTCCTGGTCTGTGAGGAGAGGGGAATCTTTATTTCATATGTGGTATGTTGGTGTTCACATGTTGAGTTGCAGCTTTGAATATTGTCTGCCTTTGTGTTCTCCTCCCCCTTGGGGAAATGTGCCTCATTTGTGGCAAATGTAGGGGTGCAGCTCTGAACAAGGTGGACAAGATCCCTGCTGTTGGGGAACTTGCAGTCGAGGATCTGTAAAGCACCCACATGGCTTAAAGGTGGATGAAGGAAACTGTTCCCTCCAGCCAGTGATTTGAAACTTTGGAGAGAGGCAGTATTGGTGCCACATTTGGCCTATGGGTTGGTTGGCTGCACTGAGGCTGTTCTCCCCCTGGTTCTTCCTATAGAAACAGCTTTGGGTGATGCAGTGGTTTGCTCAGGAAGGGGGTTTTAACATAGAAATGACCTTTTGTGTTACTGCCGTGTTTTGGTCCAACAATAAAACTGAATAGCCTAAATCAGAAGTCCTGACTAGTGTGGAACCTGAAAGATGGTGGCACCCTCATTAGACAGACAAGTAATAAGACTTGGATACTCACAGGATGTTGGAGGAACAGCACACCTTTGGGAAGCATTTTTGAGCTGAAGCAGAAGGAAGAAAATATATATATTTGTGCTTCTCAGAGTTGTATGTTTTCTACACTGCTGGTGTGGCAATAGATTTTTAAATGTTACTTTTAAAAAGAAAAATGGAGATTTGGGAGCAGTAATGGAGGATCCTCAGCACCACTGGAAAATAGGCTGGGTTAGGGGGGTGCTGAAAGTTCCAGCCTCCAAAGCAAACTTACAGTATGGCTGTGTGTTGCGTGGGATGCTGGTGGCAGCTTTGTCAGACACAGATCATGGGTCTTGCTCCAGAATCCATTGGGCTGCCAAGTGACTCTTTGAAGATCTGTCTGTAATGTGTGAGTCTTGTCCATCTGCTCTTGACTCTGAGCTGGCTAGGTGACTGTTGGTTATTCCTGGGACAGGTGCTGGGTAGGCCAGGTTTCAGCATCGCAGACAAGAAGCGCAGGACAGGCTGCATTGGGGCCAAACAGAATCAGCAAAGAGGAGGCCATGCGCTGGTTCCAGCAGAAGGTAAAGCTGATTTATCTCAAGTGAAGTGGTGGAATGTGATGTTGGTGAATGGAGTTGGGATTTGGGGATGCAAAATATAGTACTATTTGCTGGGTATCTTCTTTAAAGTTAGAATATTGGGCATCTTGACAAATCAGGGGCTTCCAGGGATGATGGTTTAAAAGAACATCCAGAACTAGGCCTTCTCCCTGTCACCATGAATGGGGGTAGATGGAAGGGGAGGAATATGGCTTTTAACAGGAGCCCCCTTTCTCAGATGATAGTGCAGTTCAGCACAGTGTAAAAACCAGCCAGCTTCCTATTTAGTCCAGAAAAGGATGGGATTCAGAGCCCAAGTTCATGTATCAATCAGATGTGAATTCTCAAAAGTTAGCCATTGCTGCAATCTCTGCTGTTGCCTCCTGTTCTGAAAAAATTAAATCTCTTCTCTTTCAGTATGATGGGATCATCCTTCCTGGCAAATAAATTCCCGTTTCTATCCAAAAGAGCAATAAAAAGTTTTCAGTGAAATGTGCAATTCTGTTGTGTGTTCTGTGAAAGGATCCTGGCCATATTCAAGTCCTTGGACCTCAAGCCACTTAAAGCTTCGATGGGAGTAGCTGGTAACAACCCCGTCATCCTCTGATTGGATGCCAGTATTTCCTGGCAGATCCAAGTCCAAGCTTCATAGCATTCATTGCCTGTGCTTGCCACACCTTGGTTGATGTGCTGTGGTGCAGTAGCCCCATTTGGAGGGGAGGGTTTGGTTGATGTTGGGGTTTGAATTTAGAGCCTTGGTTAAGCAGGGTGCAGTGCTCCTGTGTTCCAGGAGGCCCCCTGCTATTCAGTGATTCTGTTCTGTACTAGAAATTTTATCAGCATTGATGCGTCATGAAGGAATGACAGGCTTTGGTGTGATGGTTGAGATTAAATTTAGACTTAACTGTTCAGGCTCAGGTTTCTTTTACAATGAGAGTATAAGGTTCTTGGGAGGCAGTATGTGCAGATAAGAGGGCAGTCTTTCCGTTTCCAGCCCTTTCCTTTAACTGTTACCTCGGGTGAGTTGTTAATCTGCCTCAGTTTCCTTATCTGTATCAGGAGGCAGTAATAGTAGTATCTCTCAGAGGATTAAATGATTTAATACTTAACAAAATGCTCAGACTAGCACCAGCCACGTAGTGCTCAAAAGGGGTTTCATTTTTGTGTTTGGGTATAAGAAATATTACTTCTGCTAGCTTGCTTCCCTTTGGTGCAAAAATGAAAATACTTTCCCTGTGGTGATTGTCTTTTTTTTTTTTTTTTTTTTTTGAGACGAGTCTTGCTCTGTTGCCTGGGCTGGAGTGCAGTGGCGCGATCTCACTGCAAGCTCTGCCTCTGGGTTCACGCCGTTCTCCTGCCTCATCCTCCCGAGTAGCTGGGACTACAGGCGTCTGCCACCACGCCCGGCTGATTTTTTTTATTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGAAGGTCTAGATCTTCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCATCGCGCCCGGCCCCTGTAGTGATTTTCTATATCTAACTGAAGTCGATGCTCAAAAGCCGCCATTTTTGTTTGTTTGTTTTTGGTGGTGGTTTTTTTTGAGACAGAGTCTCTTTGTCACCCAGGCTGGAGTGTGCAGTGGCATGATCTCTGCAACCTCCGCCTCCTGGGTTCAAGCAATCCTCCCACCTCGGCGTCCCGAGTAATTAGGATTACAGCCATCCACCACCACGCCCAGCTAGTGTTTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTTGAACTCACCATCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGGCAAAAGCCATCATTTTTCTGACGCAATACTTGGCCATTGGTTCATCATTTTCAATTTCAGGTTTAAATTTTGGAGCGCATGTTAATTCAGTTAGATAATTTACTAATTTGTGACTNN	pathogenic	5,496
Is chromosome 1, position 23796742, gene GALE (UDP-galactose-4-epimerase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?	pathogenic; ['UDPglucose-4-epimerase_deficiency']	GTGAAGGAATTTCTTGAGAAGCTGCTGCCTCCTGTCTAACTAGTCGCTGGCCCCAGTGCAGTACCCCAGCTCATGGGGGACTCAGCAAGCAAGCGTGGCACCATCTTGGATCTGAGCCGGTCGAGCCCCTGTCCCCACCCTTCCTGACCTGTCCTTTTCCCACAGGCCTCTGGGGGCAGGTGGCAAGGCCTGGCCGGGCCTTCCTTCCTGGCCTTAGCCACCTGGCTCTGTCTGCAGCAGGGGCAGGCTGCTTTCTTATCCATTTCCCTGGAGGCGGGCCCCCCTGGCAGCAGTATTGGAGGGGCTACAGGCAGCTGGAGAAAGGGGCCCAGCCGCTGACCCACTCACTCAGGACCTCACTCACTAGCCCCGCTTTGGGCCCCCTCCTGTGACCTCAGGGTTTGGCCCATGGGGCCCCCCCAGGCCCCTGCCCCAACTGATTCTGCCCAGATAATCGTGTCTCCTGCCTCCACTCAGCTGCTTCTCAGTCATGAATGTGGCCATGGCCCCGGGGTCCCCTTGCTGCTGTGGGCTCCCTGTCCCTGGGCAGGAGTGCTGGTGAGGAGGTGGAGCCTTTTGAGGGGGGCCTTCCCTCAGCTGTTTCCCCACACTGGGGGGCTGGGCCCTGCCTCCCCGTTACCCTCCTTCCCTGCAGGCCTGGAGCCTGTAGGGCTGGACTGAGGTTCAGGTCTCCCCCCAGCTGTCTCACCCCCACTTTGTCCCCACTCTAGAGCAGGGAGGCAGTGGGGGAGGAGTTGTGTCTCGTCTTCTGTCTCCATGTGGTTTTTGGGTGTTTTTCTTGTTGTGTCCTGGATTCCGATAAAATTAAAGAAATTGCTTCCTCAACGCTCAGGCCTGGCTGATTCTATTCCAGGGGTGGATAGTGACCATCTGTGAGAACCTGCCCCAGTGTAAGAAAACTTGTTTTTATTTTTAAATACTTTGGAAAGCTCTTTCAGAGCAATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGATTCTGCTTCTGCCAGCGCCAGAGATCCTCACCTGCAACACGGCGAGGTGTGTGCTCAGGGCCCACGGTGGAATGCAGAGCCTCCCCCACCCCACAGCCCGCCCTGGGTGGGCATGCCCAGATCTGATTTAGCCCCTCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACT	GTGAAGGAATTTCTTGAGAAGCTGCTGCCTCCTGTCTAACTAGTCGCTGGCCCCAGTGCAGTACCCCAGCTCATGGGGGACTCAGCAAGCAAGCGTGGCACCATCTTGGATCTGAGCCGGTCGAGCCCCTGTCCCCACCCTTCCTGACCTGTCCTTTTCCCACAGGCCTCTGGGGGCAGGTGGCAAGGCCTGGCCGGGCCTTCCTTCCTGGCCTTAGCCACCTGGCTCTGTCTGCAGCAGGGGCAGGCTGCTTTCTTATCCATTTCCCTGGAGGCGGGCCCCCCTGGCAGCAGTATTGGAGGGGCTACAGGCAGCTGGAGAAAGGGGCCCAGCCGCTGACCCACTCACTCAGGACCTCACTCACTAGCCCCGCTTTGGGCCCCCTCCTGTGACCTCAGGGTTTGGCCCATGGGGCCCCCCCAGGCCCCTGCCCCAACTGATTCTGCCCAGATAATCGTGTCTCCTGCCTCCACTCAGCTGCTTCTCAGTCATGAATGTGGCCATGGCCCCGGGGTCCCCTTGCTGCTGTGGGCTCCCTGTCCCTGGGCAGGAGTGCTGGTGAGGAGGTGGAGCCTTTTGAGGGGGGCCTTCCCTCAGCTGTTTCCCCACACTGGGGGGCTGGGCCCTGCCTCCCCGTTACCCTCCTTCCCTGCAGGCCTGGAGCCTGTAGGGCTGGACTGAGGTTCAGGTCTCCCCCCAGCTGTCTCACCCCCACTTTGTCCCCACTCTAGAGCAGGGAGGCAGTGGGGGAGGAGTTGTGTCTCGTCTTCTGTCTCCATGTGGTTTTTGGGTGTTTTTCTTGTTGTGTCCTGGATTCCGATAAAATTAAAGAAATTGCTTCCTCAACGCTCAGGCCTGGCTGATTCTATTCCAGGGGTGGATAGTGACCATCTGTGAGAACCTGCCCCAGTGTAAGAAAACTTGTTTTTATTTTTAAATACTTTGGAAAGCTCTTTCAGAGCAATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGATTCTGCTTCTGCCAGCGCCAGAGATCCTCACCTGCAACACGGCGAGGTGTGTGCTCAGGGCCCACGGTGGAATGCAGAGCCTCCCCCACCCCACAGCCCGCCCTGGGTGGGCATGCCCAGATCTGATTTAGCCCCTCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTN	pathogenic	5,512
Clinically, how would you classify the variant at chromosome 1, position 23797705, gene GALE (UDP-galactose-4-epimerase): benign or pathogenic? If pathogenic, specify the associated illness(es).	pathogenic; ['Thrombocytopenia_13,_syndromic', 'UDPglucose-4-epimerase_deficiency']	ATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGATTCTGCTTCTGCCAGCGCCAGAGATCCTCACCTGCAACACGGCGAGGTGTGTGCTCAGGGCCCACGGTGGAATGCAGAGCCTCCCCCACCCCACAGCCCGCCCTGGGTGGGCATGCCCAGATCTGATTTAGCCCCTCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTG	ATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGATTCTGCTTCTGCCAGCGCCAGAGATCCTCACCTGCAACACGGCGAGGTGTGTGCTCAGGGCCCACGGTGGAATGCAGAGCCTCCCCCACCCCACAGCCCGCCCTGGGTGGGCATGCCCAGATCTGATTTAGCCCCTCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTGN	pathogenic	5,518
Evaluate this variant at chromosome 1, position 23798697, gene GALE (UDP-galactose-4-epimerase): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Thrombocytopenia_13,_syndromic', 'UDPglucose-4-epimerase_deficiency']	GCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTGCCCATGCCAGGGCCAGCCCGGTCACTCCTGGCTCAGAGTTAGGAATCCCGCCCAACTTAGGCTACTCTGGGTGGGCCGTGTAGACGTGGACTTGGCCAGGTGCGCACCTCCACCCTGAACAAACTCTGCGGGTAGTACGGGGAGGAAGCCCCAGACACTGAGGCCTTTCATTCCCAGCGACCGGGCCCGCTGCCGCCTTCCTCCACGCTGCCTCTATCCCCTTCTGGGCTCACGCAGCTCCAACCCACTTGACCAAGAGCCCTCTGCGTGCCAGGCTCCGTACCAGGCACTTTTGCATGATTTTCCTGAATTCCCCCAGCATCTCGGTGAGACAGGTGTTATCACTGGCACTTTACAGATACAGATACTAGGGCCAGAGAGGTGAAACAGTTGCCCTTCGGTCCCACAGCTGGCGACAGCGGGCTGGAATCTGGATCGCCAGGCTCGCAGCCCGGCCCTCTCCCCAGGCGGCTCGCCCTTCCCCCACCGCTGCCCGCTGGACTCTGCCCGCCGCGCCGAAGCCGCCCCCGCCCCCGCCCCGCGCCTGGCGCGGACCCCGAAAGTGGTCGCAGAGAGGCCCTGGGAAGCACGAAAGCTGGTCTGAGGCCGGCTGCGCCCCCGACAGCGGAGTGACCTTGCTCAGCCGTCGCCCACTCGGTTTTCCCAGTCTGTCTGTTGGAGGGAAGGGGAGCTAGGCCGTGGGCATACGAGGGCGGCTGGGTCTCAGGCTGGGCTTTGGGCTGTAGCGCGGAGCGGGGCCGAGCTAGGAGTCCTCAGGCCGGCAATGAATGAACCCCGGCCGCCCCAGCCCGGGCAGCGGGGAACTGGGACAAAGGGGGCGGGCCTGCCCTGGAGGGACGCTGCCAGGAACACGACCCGCCCCTCGGAAACTCCCTCGCTCCCCGCGGACTCCCCGGCCCCTCGCGAGCCCACCCGGCCCTTCATTCCGTCTCCCGAACCTGCTCGGGTTCCCGCGCCCCACGCTTGCTGCA	GCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTGCCCATGCCAGGGCCAGCCCGGTCACTCCTGGCTCAGAGTTAGGAATCCCGCCCAACTTAGGCTACTCTGGGTGGGCCGTGTAGACGTGGACTTGGCCAGGTGCGCACCTCCACCCTGAACAAACTCTGCGGGTAGTACGGGGAGGAAGCCCCAGACACTGAGGCCTTTCATTCCCAGCGACCGGGCCCGCTGCCGCCTTCCTCCACGCTGCCTCTATCCCCTTCTGGGCTCACGCAGCTCCAACCCACTTGACCAAGAGCCCTCTGCGTGCCAGGCTCCGTACCAGGCACTTTTGCATGATTTTCCTGAATTCCCCCAGCATCTCGGTGAGACAGGTGTTATCACTGGCACTTTACAGATACAGATACTAGGGCCAGAGAGGTGAAACAGTTGCCCTTCGGTCCCACAGCTGGCGACAGCGGGCTGGAATCTGGATCGCCAGGCTCGCAGCCCGGCCCTCTCCCCAGGCGGCTCGCCCTTCCCCCACCGCTGCCCGCTGGACTCTGCCCGCCGCGCCGAAGCCGCCCCCGCCCCCGCCCCGCGCCTGGCGCGGACCCCGAAAGTGGTCGCAGAGAGGCCCTGGGAAGCACGAAAGCTGGTCTGAGGCCGGCTGCGCCCCCGACAGCGGAGTGACCTTGCTCAGCCGTCGCCCACTCGGTTTTCCCAGTCTGTCTGTTGGAGGGAAGGGGAGCTAGGCCGTGGGCATACGAGGGCGGCTGGGTCTCAGGCTGGGCTTTGGGCTGTAGCGCGGAGCGGGGCCGAGCTAGGAGTCCTCAGGCCGGCAATGAATGAACCCCGGCCGCCCCAGCCCGGGCAGCGGGGAACTGGGACAAAGGGGGCGGGCCTGCCCTGGAGGGACGCTGCCAGGAACACGACCCGCCCCTCGGAAACTCCCTCGCTCCCCGCGGACTCCCCGGCCCCTCGCGAGCCCACCCGGCCCTTCATTCCGTCTCCCGAACCTGCTCGGGTTCCCGCGCCCCACGCTTGCTGCANNNN	pathogenic	5,527
Considering the variant on chromosome 1, location 23798730, involving gene GALE (UDP-galactose-4-epimerase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?	pathogenic; ['Thrombocytopenia_13,_syndromic', 'UDPglucose-4-epimerase_deficiency']	CCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTGCCCATGCCAGGGCCAGCCCGGTCACTCCTGGCTCAGAGTTAGGAATCCCGCCCAACTTAGGCTACTCTGGGTGGGCCGTGTAGACGTGGACTTGGCCAGGTGCGCACCTCCACCCTGAACAAACTCTGCGGGTAGTACGGGGAGGAAGCCCCAGACACTGAGGCCTTTCATTCCCAGCGACCGGGCCCGCTGCCGCCTTCCTCCACGCTGCCTCTATCCCCTTCTGGGCTCACGCAGCTCCAACCCACTTGACCAAGAGCCCTCTGCGTGCCAGGCTCCGTACCAGGCACTTTTGCATGATTTTCCTGAATTCCCCCAGCATCTCGGTGAGACAGGTGTTATCACTGGCACTTTACAGATACAGATACTAGGGCCAGAGAGGTGAAACAGTTGCCCTTCGGTCCCACAGCTGGCGACAGCGGGCTGGAATCTGGATCGCCAGGCTCGCAGCCCGGCCCTCTCCCCAGGCGGCTCGCCCTTCCCCCACCGCTGCCCGCTGGACTCTGCCCGCCGCGCCGAAGCCGCCCCCGCCCCCGCCCCGCGCCTGGCGCGGACCCCGAAAGTGGTCGCAGAGAGGCCCTGGGAAGCACGAAAGCTGGTCTGAGGCCGGCTGCGCCCCCGACAGCGGAGTGACCTTGCTCAGCCGTCGCCCACTCGGTTTTCCCAGTCTGTCTGTTGGAGGGAAGGGGAGCTAGGCCGTGGGCATACGAGGGCGGCTGGGTCTCAGGCTGGGCTTTGGGCTGTAGCGCGGAGCGGGGCCGAGCTAGGAGTCCTCAGGCCGGCAATGAATGAACCCCGGCCGCCCCAGCCCGGGCAGCGGGGAACTGGGACAAAGGGGGCGGGCCTGCCCTGGAGGGACGCTGCCAGGAACACGACCCGCCCCTCGGAAACTCCCTCGCTCCCCGCGGACTCCCCGGCCCCTCGCGAGCCCACCCGGCCCTTCATTCCGTCTCCCGAACCTGCTCGGGTTCCCGCGCCCCACGCTTGCTGCAGAGGCACCGCCTCCTACGCCCGAGCCGCGGGCC	CCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTGCCCATGCCAGGGCCAGCCCGGTCACTCCTGGCTCAGAGTTAGGAATCCCGCCCAACTTAGGCTACTCTGGGTGGGCCGTGTAGACGTGGACTTGGCCAGGTGCGCACCTCCACCCTGAACAAACTCTGCGGGTAGTACGGGGAGGAAGCCCCAGACACTGAGGCCTTTCATTCCCAGCGACCGGGCCCGCTGCCGCCTTCCTCCACGCTGCCTCTATCCCCTTCTGGGCTCACGCAGCTCCAACCCACTTGACCAAGAGCCCTCTGCGTGCCAGGCTCCGTACCAGGCACTTTTGCATGATTTTCCTGAATTCCCCCAGCATCTCGGTGAGACAGGTGTTATCACTGGCACTTTACAGATACAGATACTAGGGCCAGAGAGGTGAAACAGTTGCCCTTCGGTCCCACAGCTGGCGACAGCGGGCTGGAATCTGGATCGCCAGGCTCGCAGCCCGGCCCTCTCCCCAGGCGGCTCGCCCTTCCCCCACCGCTGCCCGCTGGACTCTGCCCGCCGCGCCGAAGCCGCCCCCGCCCCCGCCCCGCGCCTGGCGCGGACCCCGAAAGTGGTCGCAGAGAGGCCCTGGGAAGCACGAAAGCTGGTCTGAGGCCGGCTGCGCCCCCGACAGCGGAGTGACCTTGCTCAGCCGTCGCCCACTCGGTTTTCCCAGTCTGTCTGTTGGAGGGAAGGGGAGCTAGGCCGTGGGCATACGAGGGCGGCTGGGTCTCAGGCTGGGCTTTGGGCTGTAGCGCGGAGCGGGGCCGAGCTAGGAGTCCTCAGGCCGGCAATGAATGAACCCCGGCCGCCCCAGCCCGGGCAGCGGGGAACTGGGACAAAGGGGGCGGGCCTGCCCTGGAGGGACGCTGCCAGGAACACGACCCGCCCCTCGGAAACTCCCTCGCTCCCCGCGGACTCCCCGGCCCCTCGCGAGCCCACCCGGCCCTTCATTCCGTCTCCCGAACCTGCTCGGGTTCCCGCGCCCCACGCTTGCTGCAGAGGCACCGCCTCCTACGCCCGAGCCGCGGGCCNNNNNNNNNNN	pathogenic	5,528
Is the genetic variant on chromosome 1, position 23802525, gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase), benign or pathogenic? If pathogenic, what disease(s) is indicated?	pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']	CAGGCTGGGCTTTGGGCTGTAGCGCGGAGCGGGGCCGAGCTAGGAGTCCTCAGGCCGGCAATGAATGAACCCCGGCCGCCCCAGCCCGGGCAGCGGGGAACTGGGACAAAGGGGGCGGGCCTGCCCTGGAGGGACGCTGCCAGGAACACGACCCGCCCCTCGGAAACTCCCTCGCTCCCCGCGGACTCCCCGGCCCCTCGCGAGCCCACCCGGCCCTTCATTCCGTCTCCCGAACCTGCTCGGGTTCCCGCGCCCCACGCTTGCTGCAGAGGCACCGCCTCCTACGCCCGAGCCGCGGGCCCTTTAAGTGCTGACGGCCCACTCCGGCCCCGACCCCGCCCCTCCACGCCCCCAAGGAAACATGTCACTCGGGTTACGGCCACTACGGGGAGGGCGGGAGGACAAAAGGCCTCCGCGCTGTGACGAAGACTGCGCAGCGCGCGCCCGCGGAAGGCGGAAGTGGGCGGTGCCACCCCGCGAGAGGCGCCGCCGGCGCCAGGTCCCAGTAGCGGGTGGGTCCTTGCCGGTGCCCCGGGTCCCCGCGCTAGCTCGTCCCAACCCCTGGAAGAGGGCTGCGCTTCCGAGGGGGCAGGGGGCAGAGGGTAGGGGGCCCACGCCTCCGCCCCACTCTGACCCGCAGGTTTTCAGACTTGCCGGTGTGTGCCAAACCATGAATTCAAAATCTTGAACTACCCGATCCCACGGGACTAAGGCAGGAGGGGGTCGCAGGGGGCCTGGTGCTGGAAGTCCAGTTTGCAAATAAACCAAGGAGCTGGAGGAAGCTGTCAGGCCACACTAGCGGTTCCAGCGCTCTTGGCTCTCAGCCCCCACCTGCCGGGAAGGGTCGGTCTGCACTCTGCCTTCCACGACGGCAGGTTAGAAAATGATTGTTTGTTTACAATGAAAAGTAGTAGAGCTAGAGAATAATATGCACAAAATGTGACATCCTGCGTGATGAAACCAGAGCAAAGGAGCCCTAAATGCAGGAGCGCACAGGTGTCCGCGCAGCCGGGAATCAGCCAGCGCCTGCCCGCAGAGTCCAGGGAACCGACAGGTGAGCGCTCCCGGGCCCGGGAGCGCCAGGGAGAGGCCGGGCCACCGAGGCCCAAAGCAGCAAGTGTGTCCTCAGGGGAGCTTGTGCAATAGCCCCAGTCACAGAGGCAAAGCTCAGAAACAACCCCGTCGGGTGTTCTGGCCAGCAACTGCCGCAAGCAGCCTCCTGAGTAAGCCCAAAACCACTGATTTCCAGTCACTATGGATTTGGGGCTCAGGTGGGGAAACAGGGAGGAAATCCAAAGATTAATAAACTAGTTCATAGTCTCCATTTTCCTCTCAGAGTGCAACATGGTAAAGTATTTTACTCCCCCACGCGCATGTATACACACAGCTGCACAACCGAATGCTGGAATTATGATGTGCCATTCAACCTTTAATTACATAAGCTGTTTTCAAAAATCACATTCAGCGTGGAGATTTTCCAGAGATGCTGGAGTTGGCAGACGGCCACCACGTAGCTCTCCACTTTCCACAAATGGCCTCTGCCAGCTTGGGAAGAACCTCCATGACCTGTGTCCTGAGAAGTCAGAGAGCAAGGGCCCCACGGCCATGGCAGGGTGGAGCCGTGTAGAGGGTGGCCAGGTGGCCAGCTCGCGGATTCCATCCAGAGAGGAGACTCAAGGATCATGCTAAGTAGGGAACGGGGTTCCCACACGTCCTCAGGCATTCAACTCCTGGGCCAGGGTCCGTAACAAAGGGAGACTTCAGCCCTCAAAGCCTCTCACTCCTCAGGTCTGGGCAGGAGGTCCTTCTGCCAAGCAGCTCCTCCTGCCCTTCGCCTGCTTTCTGCCAGGAGAGACCTCTGTGTAGAGCTGGCTATGAGGTACCTGCACCATTTAACCTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTGTGAGCTCCTGTCTGTCTGGCACCTGGGTTATTCCTCTGACTCCCCCTCATGTAAGATGCCCAATCTCTGTCATGGTTTGTAGTGCCACTACCAGGGCACAGATCTTATCAGTCTTGTTCAGTACTCCCTCTTCAGGGCCCAGCACAGGGCCTGGCCCACAGAGGTAAAAAACTGATATTCAAGTGACAATTGTGAGGCAGAGAGGGAGGGATAAAAACACCAACTGAAAGGGCCAGACAGAAACCCTCTGTTCATACAGTAGCTCATATTTGCTGAAGTGCACTCTGTGCTCAGCTCTGTGATAAGCATTCTACATAACTTTTCTTTCTTTTTTTTTTTGGAGACAGAGTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGCTCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGTGTGTGCCACCACACCCAGCTAATTTTTCTTTTCTTTTTTTTGAGAGGGAGTCTCACTGTGTCGCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCAGCAATTTTTCTATTGTTAGTGGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCTGGCCCTCTACGTACGTTTTCTTACTTAATCCTCACAATGGCTCCATGAGATGGATGGCATTATTATTCCCATTTCTTAGGTTCAGAGAGATGAAATAATTTGTCTGAGGTCTCATAGCCTGGGAGTGGCAGGAGTAGGCTTTAAACCCAGTTCCATCTGATCTTTAAGCACAGATGCTATTCTGCTTCCGTCCCGCCACTGAGGGCCCTGGTGGACTCTGGCGGATCCCTGGTGAGCTGTCTAACGCTACTGTCCTCATTTTACAGAGAACAAAACAAAGCCAAGAGAGAACTGACTCATTTCAGGTCATGAACCTGACCCTTCCCAGGGCCCCTTCCATGTTCCTGGTGTCTCCTAGGACTGAACTGTCAAAGTCACCCTGACACTCCAGCCTTCTTATGCCCATGCGTGTGGCCTCACTCAACCCTACTCTCACAAACATTAAAATATTAGATCAAATATCCATAATCCCCAACACCCTTCCCCTCTTTTGTTTTGTTTTGAAGAGATAGGGTCTTGCTGTTTCACCCAGGCTGGAGTACACTGGCAGGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCTAACCCTTTCCCTCTTTACTCCTCAGCACCTTAACAACCCCAAATACCCCCATCCACTTTTGTTCTCAGCTTCAGGCCCCCTGGTCAGTTCGGGGCTGTCGCCACCAGGGGGTGGGTGGGCTTACCGTGTGAATGCCCAAGCCCTCTAGCATGTAGACCAGGTCTTCTGTGGCCAAGTTTCCTGATGCCCCCTGTGCGTAGGGACAGCCTCCAAGTCCTGCCACAGAAGAGTCCACGACACTCACTCCCATCTAGAAACATAAGGATGGTGAAACACAGTTGTTGCTGGGGACAAGAG	CAGGCTGGGCTTTGGGCTGTAGCGCGGAGCGGGGCCGAGCTAGGAGTCCTCAGGCCGGCAATGAATGAACCCCGGCCGCCCCAGCCCGGGCAGCGGGGAACTGGGACAAAGGGGGCGGGCCTGCCCTGGAGGGACGCTGCCAGGAACACGACCCGCCCCTCGGAAACTCCCTCGCTCCCCGCGGACTCCCCGGCCCCTCGCGAGCCCACCCGGCCCTTCATTCCGTCTCCCGAACCTGCTCGGGTTCCCGCGCCCCACGCTTGCTGCAGAGGCACCGCCTCCTACGCCCGAGCCGCGGGCCCTTTAAGTGCTGACGGCCCACTCCGGCCCCGACCCCGCCCCTCCACGCCCCCAAGGAAACATGTCACTCGGGTTACGGCCACTACGGGGAGGGCGGGAGGACAAAAGGCCTCCGCGCTGTGACGAAGACTGCGCAGCGCGCGCCCGCGGAAGGCGGAAGTGGGCGGTGCCACCCCGCGAGAGGCGCCGCCGGCGCCAGGTCCCAGTAGCGGGTGGGTCCTTGCCGGTGCCCCGGGTCCCCGCGCTAGCTCGTCCCAACCCCTGGAAGAGGGCTGCGCTTCCGAGGGGGCAGGGGGCAGAGGGTAGGGGGCCCACGCCTCCGCCCCACTCTGACCCGCAGGTTTTCAGACTTGCCGGTGTGTGCCAAACCATGAATTCAAAATCTTGAACTACCCGATCCCACGGGACTAAGGCAGGAGGGGGTCGCAGGGGGCCTGGTGCTGGAAGTCCAGTTTGCAAATAAACCAAGGAGCTGGAGGAAGCTGTCAGGCCACACTAGCGGTTCCAGCGCTCTTGGCTCTCAGCCCCCACCTGCCGGGAAGGGTCGGTCTGCACTCTGCCTTCCACGACGGCAGGTTAGAAAATGATTGTTTGTTTACAATGAAAAGTAGTAGAGCTAGAGAATAATATGCACAAAATGTGACATCCTGCGTGATGAAACCAGAGCAAAGGAGCCCTAAATGCAGGAGCGCACAGGTGTCCGCGCAGCCGGGAATCAGCCAGCGCCTGCCCGCAGAGTCCAGGGAACCGACAGGTGAGCGCTCCCGGGCCCGGGAGCGCCAGGGAGAGGCCGGGCCACCGAGGCCCAAAGCAGCAAGTGTGTCCTCAGGGGAGCTTGTGCAATAGCCCCAGTCACAGAGGCAAAGCTCAGAAACAACCCCGTCGGGTGTTCTGGCCAGCAACTGCCGCAAGCAGCCTCCTGAGTAAGCCCAAAACCACTGATTTCCAGTCACTATGGATTTGGGGCTCAGGTGGGGAAACAGGGAGGAAATCCAAAGATTAATAAACTAGTTCATAGTCTCCATTTTCCTCTCAGAGTGCAACATGGTAAAGTATTTTACTCCCCCACGCGCATGTATACACACAGCTGCACAACCGAATGCTGGAATTATGATGTGCCATTCAACCTTTAATTACATAAGCTGTTTTCAAAAATCACATTCAGCGTGGAGATTTTCCAGAGATGCTGGAGTTGGCAGACGGCCACCACGTAGCTCTCCACTTTCCACAAATGGCCTCTGCCAGCTTGGGAAGAACCTCCATGACCTGTGTCCTGAGAAGTCAGAGAGCAAGGGCCCCACGGCCATGGCAGGGTGGAGCCGTGTAGAGGGTGGCCAGGTGGCCAGCTCGCGGATTCCATCCAGAGAGGAGACTCAAGGATCATGCTAAGTAGGGAACGGGGTTCCCACACGTCCTCAGGCATTCAACTCCTGGGCCAGGGTCCGTAACAAAGGGAGACTTCAGCCCTCAAAGCCTCTCACTCCTCAGGTCTGGGCAGGAGGTCCTTCTGCCAAGCAGCTCCTCCTGCCCTTCGCCTGCTTTCTGCCAGGAGAGACCTCTGTGTAGAGCTGGCTATGAGGTACCTGCACCATTTAACCTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTGTGAGCTCCTGTCTGTCTGGCACCTGGGTTATTCCTCTGACTCCCCCTCATGTAAGATGCCCAATCTCTGTCATGGTTTGTAGTGCCACTACCAGGGCACAGATCTTATCAGTCTTGTTCAGTACTCCCTCTTCAGGGCCCAGCACAGGGCCTGGCCCACAGAGGTAAAAAACTGATATTCAAGTGACAATTGTGAGGCAGAGAGGGAGGGATAAAAACACCAACTGAAAGGGCCAGACAGAAACCCTCTGTTCATACAGTAGCTCATATTTGCTGAAGTGCACTCTGTGCTCAGCTCTGTGATAAGCATTCTACATAACTTTTCTTTCTTTTTTTTTTTGGAGACAGAGTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGCTCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGTGTGTGCCACCACACCCAGCTAATTTTTCTTTTCTTTTTTTTGAGAGGGAGTCTCACTGTGTCGCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCAGCAATTTTTCTATTGTTAGTGGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCTGGCCCTCTACGTACGTTTTCTTACTTAATCCTCACAATGGCTCCATGAGATGGATGGCATTATTATTCCCATTTCTTAGGTTCAGAGAGATGAAATAATTTGTCTGAGGTCTCATAGCCTGGGAGTGGCAGGAGTAGGCTTTAAACCCAGTTCCATCTGATCTTTAAGCACAGATGCTATTCTGCTTCCGTCCCGCCACTGAGGGCCCTGGTGGACTCTGGCGGATCCCTGGTGAGCTGTCTAACGCTACTGTCCTCATTTTACAGAGAACAAAACAAAGCCAAGAGAGAACTGACTCATTTCAGGTCATGAACCTGACCCTTCCCAGGGCCCCTTCCATGTTCCTGGTGTCTCCTAGGACTGAACTGTCAAAGTCACCCTGACACTCCAGCCTTCTTATGCCCATGCGTGTGGCCTCACTCAACCCTACTCTCACAAACATTAAAATATTAGATCAAATATCCATAATCCCCAACACCCTTCCCCTCTTTTGTTTTGTTTTGAAGAGATAGGGTCTTGCTGTTTCACCCAGGCTGGAGTACACTGGCAGGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCTAACCCTTTCCCTCTTTACTCCTCAGCACCTTAACAACCCCAAATACCCCCATCCACTTTTGTTCTCAGCTTCAGGCCCCCTGGTCAGTTCGGGGCTGTCGCCACCAGGGGGTGGGTGGGCTTACCGTGTGAATGCCCAAGCCCTCTAGCATGTAGACCAGGTCTTCTGTGGCCAAGTTTCCTGATGCCCCCTGTGCGTAGGGACAGCCTCCAAGTCCTGCCACAGAAGAGTCCACGACACTCACTCCCATCTAGAAACATAAGGATGGTGAAACACAGTTGTTGCTGGGGACAAGAGNN	pathogenic	5,534
Evaluate the clinical significance of the mutation at chromosome 1, position 23804409 in gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']	TGCACCATTTAACCTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTGTGAGCTCCTGTCTGTCTGGCACCTGGGTTATTCCTCTGACTCCCCCTCATGTAAGATGCCCAATCTCTGTCATGGTTTGTAGTGCCACTACCAGGGCACAGATCTTATCAGTCTTGTTCAGTACTCCCTCTTCAGGGCCCAGCACAGGGCCTGGCCCACAGAGGTAAAAAACTGATATTCAAGTGACAATTGTGAGGCAGAGAGGGAGGGATAAAAACACCAACTGAAAGGGCCAGACAGAAACCCTCTGTTCATACAGTAGCTCATATTTGCTGAAGTGCACTCTGTGCTCAGCTCTGTGATAAGCATTCTACATAACTTTTCTTTCTTTTTTTTTTTGGAGACAGAGTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGCTCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGTGTGTGCCACCACACCCAGCTAATTTTTCTTTTCTTTTTTTTGAGAGGGAGTCTCACTGTGTCGCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCAGCAATTTTTCTATTGTTAGTGGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCTGGCCCTCTACGTACGTTTTCTTACTTAATCCTCACAATGGCTCCATGAGATGGATGGCATTATTATTCCCATTTCTTAGGTTCAGAGAGATGAAATAATTTGTCTGAGGTCTCATAGCCTGGGAGTGGCAGGAGTAGGCTTTAAACCCAGTTCCATCTGATCTTTAAGCACAGATGCTATTCTGCTTCCGTCCCGCCACTGAGGGCCCTGGTGGACTCTGGCGGATCCCTGGTGAGCTGTCTAACGCTACTGTCCTCATTTTACAGAGAACAAAACAAAGCCAAGAGAGAACTGACTCATTTCAGGTCATGAACCTGACCCTTCCCAGGGCCCCTTCCATGTTCCTGGTGTCTCCTAGGACTGAACTGTCAAAGTCACCCTGACACTCCAGCCTTCTTATGCCCATGCGTGTGGCCTCACTCAACCCTACTCTCACAAACATTAAAATATTAGATCAAATATCCATAATCCCCAACACCCTTCCCCTCTTTTGTTTTGTTTTGAAGAGATAGGGTCTTGCTGTTTCACCCAGGCTGGAGTACACTGGCAGGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCTAACCCTTTCCCTCTTTACTCCTCAGCACCTTAACAACCCCAAATACCCCCATCCACTTTTGTTCTCAGCTTCAGGCCCCCTGGTCAGTTCGGGGCTGTCGCCACCAGGGGGTGGGTGGGCTTACCGTGTGAATGCCCAAGCCCTCTAGCATGTAGACCAGGTCTTCTGTGGCCAAGTTTCCTGATGCCCCCTGTGCGTAGGGACAGCCTCCAAGTCCTGCCACAGAAGAGTCCACGACACTCACTCCCATCTAGAAACATAAGGATGGTGAAACACAGTTGTTGCTGGGGACAAGAGGCCACAGAGATGAGCCTTGCAAACCTCCCAATCGTCTGTTGCCTGAAATTCTAGAGTCATTCTTTGCTTTGGCTTATGATTCTGTTGACATGACAATCCCACAGAAAGAGACAGTGCTTCTCCTTTTAGTTTCTGTTAAACTGTTTCCTCTGCCAGCAGTATCTTTCCTTTCATGGTGAACTCTCATTCTTTAGGTTCCAGTCTGAAAGCCACCTGCTCAGGGAGACCTTTTCTGATCACCAGCCTAACCCCCTCCCACTGCTGAGATTTCAGACCCCTGTTGTTTACTGTGATTCATTTATTACCCCCCCCCCACTTACCCCCCACCACCTCCAGGCTACTCTCACTCAGTCAGGGCCTTGCCACACGAGGGCCACATCCCATCTTCCCAGGTCAGTCACCTCCCACTATCCCAAATGACTATTTCACTTTCTCCTCTCTTCTTAAACCTCTATCACCCCCTTCCCCATCCTCATTCTCATCTGCTGCTTTATGGAAATGGATGCAATCAAGAGATGTCTCCATTGATTCCCACCATCACATCTACCCACCTGCCTACATCTGGGCCTACAGACCCACTGTCCCTCATGCTGCCTGAGATGGACCCTGAGCTCCTAGCCAAGGCCAACCCCTCCACCTTGGCGTGAGGCCCATTCCCACCTGCTTCAGGATGTGCTCCAGTAAGTCTCTCCCTCTCTGCTGCAACCTGTTACTCCCCTCCACTGGGTCATCTTCACACAGCCTGCGATCTCTCCCATCTTTTACAAACCTTTTTGGAACCCTCTAACCTCCAATTTCTTTCCCCCCATTCAAAGCAAAGTCCCTCAAAAGAGCTGTTCCCATTTAACATCTACCATTCTCATTTGAACCCATTCGAAACAGGTTTGCGTCCCCACAACTCCTCCACTGAAACAGCTCTAGTCAAGGCCACTGGTGGCCTCCATGTAGCTAAGTACAAAGGTCAAGTCTCTTCATCTTTGCACTTGACTAGCCGCATCATCTTGGACACCTTCTCCATGTGGCTTCCAGGGCTCCACATCCCTTGGTTTTCCTCCTAGTGCTCTAGCCTCTCCTGAGGCCTCGATCCAGTCTTTGCTGGCTCTTCCTCACCTCCCTGATCTCGGTTGGAGCCCTTACTGCTCATTCCTCAGACAGCTTCTCTATCTCCACTCACTCCCAGTTAACTGCACCCAGGTTAACACACCTGCCTATAGATGTCTCGAGCTTCACAGATCAGAACACGAACTGCTGAGATCCGGTCACGCACCTCTGCCCTCCAGGCCTCCTTGCCATGTCTCTCACCTGGATTGCTGTAGGCTCCAAACTGGTTCTTCTCTCTACAGTGTATTCTCTACACAGCACCCAGAGGAGCCTCTTTTTTTTTTTTGATAAGAAGTCTCACTCTGTTGCCTAGGCTGGAGTGCACTGGCGCCATCTCAGCTCACTGCAAATCACTGCAACCTCCACCTCCCGGGCTCAAGTGATTCTCATGCCTCAGCCTCGCAAATAGCTGGGATTACAGGCTCACGCCACCACGCCCAGCTAATTTTTATATTTTTAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAG	TGCACCATTTAACCTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTGTGAGCTCCTGTCTGTCTGGCACCTGGGTTATTCCTCTGACTCCCCCTCATGTAAGATGCCCAATCTCTGTCATGGTTTGTAGTGCCACTACCAGGGCACAGATCTTATCAGTCTTGTTCAGTACTCCCTCTTCAGGGCCCAGCACAGGGCCTGGCCCACAGAGGTAAAAAACTGATATTCAAGTGACAATTGTGAGGCAGAGAGGGAGGGATAAAAACACCAACTGAAAGGGCCAGACAGAAACCCTCTGTTCATACAGTAGCTCATATTTGCTGAAGTGCACTCTGTGCTCAGCTCTGTGATAAGCATTCTACATAACTTTTCTTTCTTTTTTTTTTTGGAGACAGAGTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGCTCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGTGTGTGCCACCACACCCAGCTAATTTTTCTTTTCTTTTTTTTGAGAGGGAGTCTCACTGTGTCGCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCAGCAATTTTTCTATTGTTAGTGGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCTGGCCCTCTACGTACGTTTTCTTACTTAATCCTCACAATGGCTCCATGAGATGGATGGCATTATTATTCCCATTTCTTAGGTTCAGAGAGATGAAATAATTTGTCTGAGGTCTCATAGCCTGGGAGTGGCAGGAGTAGGCTTTAAACCCAGTTCCATCTGATCTTTAAGCACAGATGCTATTCTGCTTCCGTCCCGCCACTGAGGGCCCTGGTGGACTCTGGCGGATCCCTGGTGAGCTGTCTAACGCTACTGTCCTCATTTTACAGAGAACAAAACAAAGCCAAGAGAGAACTGACTCATTTCAGGTCATGAACCTGACCCTTCCCAGGGCCCCTTCCATGTTCCTGGTGTCTCCTAGGACTGAACTGTCAAAGTCACCCTGACACTCCAGCCTTCTTATGCCCATGCGTGTGGCCTCACTCAACCCTACTCTCACAAACATTAAAATATTAGATCAAATATCCATAATCCCCAACACCCTTCCCCTCTTTTGTTTTGTTTTGAAGAGATAGGGTCTTGCTGTTTCACCCAGGCTGGAGTACACTGGCAGGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCTAACCCTTTCCCTCTTTACTCCTCAGCACCTTAACAACCCCAAATACCCCCATCCACTTTTGTTCTCAGCTTCAGGCCCCCTGGTCAGTTCGGGGCTGTCGCCACCAGGGGGTGGGTGGGCTTACCGTGTGAATGCCAAGCCCTCTAGCATGTAGACCAGGTCTTCTGTGGCCAAGTTTCCTGATGCCCCCTGTGCGTAGGGACAGCCTCCAAGTCCTGCCACAGAAGAGTCCACGACACTCACTCCCATCTAGAAACATAAGGATGGTGAAACACAGTTGTTGCTGGGGACAAGAGGCCACAGAGATGAGCCTTGCAAACCTCCCAATCGTCTGTTGCCTGAAATTCTAGAGTCATTCTTTGCTTTGGCTTATGATTCTGTTGACATGACAATCCCACAGAAAGAGACAGTGCTTCTCCTTTTAGTTTCTGTTAAACTGTTTCCTCTGCCAGCAGTATCTTTCCTTTCATGGTGAACTCTCATTCTTTAGGTTCCAGTCTGAAAGCCACCTGCTCAGGGAGACCTTTTCTGATCACCAGCCTAACCCCCTCCCACTGCTGAGATTTCAGACCCCTGTTGTTTACTGTGATTCATTTATTACCCCCCCCCCACTTACCCCCCACCACCTCCAGGCTACTCTCACTCAGTCAGGGCCTTGCCACACGAGGGCCACATCCCATCTTCCCAGGTCAGTCACCTCCCACTATCCCAAATGACTATTTCACTTTCTCCTCTCTTCTTAAACCTCTATCACCCCCTTCCCCATCCTCATTCTCATCTGCTGCTTTATGGAAATGGATGCAATCAAGAGATGTCTCCATTGATTCCCACCATCACATCTACCCACCTGCCTACATCTGGGCCTACAGACCCACTGTCCCTCATGCTGCCTGAGATGGACCCTGAGCTCCTAGCCAAGGCCAACCCCTCCACCTTGGCGTGAGGCCCATTCCCACCTGCTTCAGGATGTGCTCCAGTAAGTCTCTCCCTCTCTGCTGCAACCTGTTACTCCCCTCCACTGGGTCATCTTCACACAGCCTGCGATCTCTCCCATCTTTTACAAACCTTTTTGGAACCCTCTAACCTCCAATTTCTTTCCCCCCATTCAAAGCAAAGTCCCTCAAAAGAGCTGTTCCCATTTAACATCTACCATTCTCATTTGAACCCATTCGAAACAGGTTTGCGTCCCCACAACTCCTCCACTGAAACAGCTCTAGTCAAGGCCACTGGTGGCCTCCATGTAGCTAAGTACAAAGGTCAAGTCTCTTCATCTTTGCACTTGACTAGCCGCATCATCTTGGACACCTTCTCCATGTGGCTTCCAGGGCTCCACATCCCTTGGTTTTCCTCCTAGTGCTCTAGCCTCTCCTGAGGCCTCGATCCAGTCTTTGCTGGCTCTTCCTCACCTCCCTGATCTCGGTTGGAGCCCTTACTGCTCATTCCTCAGACAGCTTCTCTATCTCCACTCACTCCCAGTTAACTGCACCCAGGTTAACACACCTGCCTATAGATGTCTCGAGCTTCACAGATCAGAACACGAACTGCTGAGATCCGGTCACGCACCTCTGCCCTCCAGGCCTCCTTGCCATGTCTCTCACCTGGATTGCTGTAGGCTCCAAACTGGTTCTTCTCTCTACAGTGTATTCTCTACACAGCACCCAGAGGAGCCTCTTTTTTTTTTTTGATAAGAAGTCTCACTCTGTTGCCTAGGCTGGAGTGCACTGGCGCCATCTCAGCTCACTGCAAATCACTGCAACCTCCACCTCCCGGGCTCAAGTGATTCTCATGCCTCAGCCTCGCAAATAGCTGGGATTACAGGCTCACGCCACCACGCCCAGCTAATTTTTATATTTTTAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGN	pathogenic	5,537
Clinical classification of chromosome 1, position 23804422, gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): benign or pathogenic? Disease(s) if pathogenic?	pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase', 'HMGCL-related_disorder']	CTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTGTGAGCTCCTGTCTGTCTGGCACCTGGGTTATTCCTCTGACTCCCCCTCATGTAAGATGCCCAATCTCTGTCATGGTTTGTAGTGCCACTACCAGGGCACAGATCTTATCAGTCTTGTTCAGTACTCCCTCTTCAGGGCCCAGCACAGGGCCTGGCCCACAGAGGTAAAAAACTGATATTCAAGTGACAATTGTGAGGCAGAGAGGGAGGGATAAAAACACCAACTGAAAGGGCCAGACAGAAACCCTCTGTTCATACAGTAGCTCATATTTGCTGAAGTGCACTCTGTGCTCAGCTCTGTGATAAGCATTCTACATAACTTTTCTTTCTTTTTTTTTTTGGAGACAGAGTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGCTCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGTGTGTGCCACCACACCCAGCTAATTTTTCTTTTCTTTTTTTTGAGAGGGAGTCTCACTGTGTCGCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCAGCAATTTTTCTATTGTTAGTGGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCTGGCCCTCTACGTACGTTTTCTTACTTAATCCTCACAATGGCTCCATGAGATGGATGGCATTATTATTCCCATTTCTTAGGTTCAGAGAGATGAAATAATTTGTCTGAGGTCTCATAGCCTGGGAGTGGCAGGAGTAGGCTTTAAACCCAGTTCCATCTGATCTTTAAGCACAGATGCTATTCTGCTTCCGTCCCGCCACTGAGGGCCCTGGTGGACTCTGGCGGATCCCTGGTGAGCTGTCTAACGCTACTGTCCTCATTTTACAGAGAACAAAACAAAGCCAAGAGAGAACTGACTCATTTCAGGTCATGAACCTGACCCTTCCCAGGGCCCCTTCCATGTTCCTGGTGTCTCCTAGGACTGAACTGTCAAAGTCACCCTGACACTCCAGCCTTCTTATGCCCATGCGTGTGGCCTCACTCAACCCTACTCTCACAAACATTAAAATATTAGATCAAATATCCATAATCCCCAACACCCTTCCCCTCTTTTGTTTTGTTTTGAAGAGATAGGGTCTTGCTGTTTCACCCAGGCTGGAGTACACTGGCAGGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCTAACCCTTTCCCTCTTTACTCCTCAGCACCTTAACAACCCCAAATACCCCCATCCACTTTTGTTCTCAGCTTCAGGCCCCCTGGTCAGTTCGGGGCTGTCGCCACCAGGGGGTGGGTGGGCTTACCGTGTGAATGCCCAAGCCCTCTAGCATGTAGACCAGGTCTTCTGTGGCCAAGTTTCCTGATGCCCCCTGTGCGTAGGGACAGCCTCCAAGTCCTGCCACAGAAGAGTCCACGACACTCACTCCCATCTAGAAACATAAGGATGGTGAAACACAGTTGTTGCTGGGGACAAGAGGCCACAGAGATGAGCCTTGCAAACCTCCCAATCGTCTGTTGCCTGAAATTCTAGAGTCATTCTTTGCTTTGGCTTATGATTCTGTTGACATGACAATCCCACAGAAAGAGACAGTGCTTCTCCTTTTAGTTTCTGTTAAACTGTTTCCTCTGCCAGCAGTATCTTTCCTTTCATGGTGAACTCTCATTCTTTAGGTTCCAGTCTGAAAGCCACCTGCTCAGGGAGACCTTTTCTGATCACCAGCCTAACCCCCTCCCACTGCTGAGATTTCAGACCCCTGTTGTTTACTGTGATTCATTTATTACCCCCCCCCCACTTACCCCCCACCACCTCCAGGCTACTCTCACTCAGTCAGGGCCTTGCCACACGAGGGCCACATCCCATCTTCCCAGGTCAGTCACCTCCCACTATCCCAAATGACTATTTCACTTTCTCCTCTCTTCTTAAACCTCTATCACCCCCTTCCCCATCCTCATTCTCATCTGCTGCTTTATGGAAATGGATGCAATCAAGAGATGTCTCCATTGATTCCCACCATCACATCTACCCACCTGCCTACATCTGGGCCTACAGACCCACTGTCCCTCATGCTGCCTGAGATGGACCCTGAGCTCCTAGCCAAGGCCAACCCCTCCACCTTGGCGTGAGGCCCATTCCCACCTGCTTCAGGATGTGCTCCAGTAAGTCTCTCCCTCTCTGCTGCAACCTGTTACTCCCCTCCACTGGGTCATCTTCACACAGCCTGCGATCTCTCCCATCTTTTACAAACCTTTTTGGAACCCTCTAACCTCCAATTTCTTTCCCCCCATTCAAAGCAAAGTCCCTCAAAAGAGCTGTTCCCATTTAACATCTACCATTCTCATTTGAACCCATTCGAAACAGGTTTGCGTCCCCACAACTCCTCCACTGAAACAGCTCTAGTCAAGGCCACTGGTGGCCTCCATGTAGCTAAGTACAAAGGTCAAGTCTCTTCATCTTTGCACTTGACTAGCCGCATCATCTTGGACACCTTCTCCATGTGGCTTCCAGGGCTCCACATCCCTTGGTTTTCCTCCTAGTGCTCTAGCCTCTCCTGAGGCCTCGATCCAGTCTTTGCTGGCTCTTCCTCACCTCCCTGATCTCGGTTGGAGCCCTTACTGCTCATTCCTCAGACAGCTTCTCTATCTCCACTCACTCCCAGTTAACTGCACCCAGGTTAACACACCTGCCTATAGATGTCTCGAGCTTCACAGATCAGAACACGAACTGCTGAGATCCGGTCACGCACCTCTGCCCTCCAGGCCTCCTTGCCATGTCTCTCACCTGGATTGCTGTAGGCTCCAAACTGGTTCTTCTCTCTACAGTGTATTCTCTACACAGCACCCAGAGGAGCCTCTTTTTTTTTTTTGATAAGAAGTCTCACTCTGTTGCCTAGGCTGGAGTGCACTGGCGCCATCTCAGCTCACTGCAAATCACTGCAACCTCCACCTCCCGGGCTCAAGTGATTCTCATGCCTCAGCCTCGCAAATAGCTGGGATTACAGGCTCACGCCACCACGCCCAGCTAATTTTTATATTTTTAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCT	CTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTGTGAGCTCCTGTCTGTCTGGCACCTGGGTTATTCCTCTGACTCCCCCTCATGTAAGATGCCCAATCTCTGTCATGGTTTGTAGTGCCACTACCAGGGCACAGATCTTATCAGTCTTGTTCAGTACTCCCTCTTCAGGGCCCAGCACAGGGCCTGGCCCACAGAGGTAAAAAACTGATATTCAAGTGACAATTGTGAGGCAGAGAGGGAGGGATAAAAACACCAACTGAAAGGGCCAGACAGAAACCCTCTGTTCATACAGTAGCTCATATTTGCTGAAGTGCACTCTGTGCTCAGCTCTGTGATAAGCATTCTACATAACTTTTCTTTCTTTTTTTTTTTGGAGACAGAGTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGCTCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGTGTGTGCCACCACACCCAGCTAATTTTTCTTTTCTTTTTTTTGAGAGGGAGTCTCACTGTGTCGCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCAGCAATTTTTCTATTGTTAGTGGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCTGGCCCTCTACGTACGTTTTCTTACTTAATCCTCACAATGGCTCCATGAGATGGATGGCATTATTATTCCCATTTCTTAGGTTCAGAGAGATGAAATAATTTGTCTGAGGTCTCATAGCCTGGGAGTGGCAGGAGTAGGCTTTAAACCCAGTTCCATCTGATCTTTAAGCACAGATGCTATTCTGCTTCCGTCCCGCCACTGAGGGCCCTGGTGGACTCTGGCGGATCCCTGGTGAGCTGTCTAACGCTACTGTCCTCATTTTACAGAGAACAAAACAAAGCCAAGAGAGAACTGACTCATTTCAGGTCATGAACCTGACCCTTCCCAGGGCCCCTTCCATGTTCCTGGTGTCTCCTAGGACTGAACTGTCAAAGTCACCCTGACACTCCAGCCTTCTTATGCCCATGCGTGTGGCCTCACTCAACCCTACTCTCACAAACATTAAAATATTAGATCAAATATCCATAATCCCCAACACCCTTCCCCTCTTTTGTTTTGTTTTGAAGAGATAGGGTCTTGCTGTTTCACCCAGGCTGGAGTACACTGGCAGGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCTAACCCTTTCCCTCTTTACTCCTCAGCACCTTAACAACCCCAAATACCCCCATCCACTTTTGTTCTCAGCTTCAGGCCCCCTGGTCAGTTCGGGGCTGTCGCCACCAGGGGGTGGGTGGGCTTACCGTGTGAATGCCCAAGCCCTCTACATGTAGACCAGGTCTTCTGTGGCCAAGTTTCCTGATGCCCCCTGTGCGTAGGGACAGCCTCCAAGTCCTGCCACAGAAGAGTCCACGACACTCACTCCCATCTAGAAACATAAGGATGGTGAAACACAGTTGTTGCTGGGGACAAGAGGCCACAGAGATGAGCCTTGCAAACCTCCCAATCGTCTGTTGCCTGAAATTCTAGAGTCATTCTTTGCTTTGGCTTATGATTCTGTTGACATGACAATCCCACAGAAAGAGACAGTGCTTCTCCTTTTAGTTTCTGTTAAACTGTTTCCTCTGCCAGCAGTATCTTTCCTTTCATGGTGAACTCTCATTCTTTAGGTTCCAGTCTGAAAGCCACCTGCTCAGGGAGACCTTTTCTGATCACCAGCCTAACCCCCTCCCACTGCTGAGATTTCAGACCCCTGTTGTTTACTGTGATTCATTTATTACCCCCCCCCCACTTACCCCCCACCACCTCCAGGCTACTCTCACTCAGTCAGGGCCTTGCCACACGAGGGCCACATCCCATCTTCCCAGGTCAGTCACCTCCCACTATCCCAAATGACTATTTCACTTTCTCCTCTCTTCTTAAACCTCTATCACCCCCTTCCCCATCCTCATTCTCATCTGCTGCTTTATGGAAATGGATGCAATCAAGAGATGTCTCCATTGATTCCCACCATCACATCTACCCACCTGCCTACATCTGGGCCTACAGACCCACTGTCCCTCATGCTGCCTGAGATGGACCCTGAGCTCCTAGCCAAGGCCAACCCCTCCACCTTGGCGTGAGGCCCATTCCCACCTGCTTCAGGATGTGCTCCAGTAAGTCTCTCCCTCTCTGCTGCAACCTGTTACTCCCCTCCACTGGGTCATCTTCACACAGCCTGCGATCTCTCCCATCTTTTACAAACCTTTTTGGAACCCTCTAACCTCCAATTTCTTTCCCCCCATTCAAAGCAAAGTCCCTCAAAAGAGCTGTTCCCATTTAACATCTACCATTCTCATTTGAACCCATTCGAAACAGGTTTGCGTCCCCACAACTCCTCCACTGAAACAGCTCTAGTCAAGGCCACTGGTGGCCTCCATGTAGCTAAGTACAAAGGTCAAGTCTCTTCATCTTTGCACTTGACTAGCCGCATCATCTTGGACACCTTCTCCATGTGGCTTCCAGGGCTCCACATCCCTTGGTTTTCCTCCTAGTGCTCTAGCCTCTCCTGAGGCCTCGATCCAGTCTTTGCTGGCTCTTCCTCACCTCCCTGATCTCGGTTGGAGCCCTTACTGCTCATTCCTCAGACAGCTTCTCTATCTCCACTCACTCCCAGTTAACTGCACCCAGGTTAACACACCTGCCTATAGATGTCTCGAGCTTCACAGATCAGAACACGAACTGCTGAGATCCGGTCACGCACCTCTGCCCTCCAGGCCTCCTTGCCATGTCTCTCACCTGGATTGCTGTAGGCTCCAAACTGGTTCTTCTCTCTACAGTGTATTCTCTACACAGCACCCAGAGGAGCCTCTTTTTTTTTTTTGATAAGAAGTCTCACTCTGTTGCCTAGGCTGGAGTGCACTGGCGCCATCTCAGCTCACTGCAAATCACTGCAACCTCCACCTCCCGGGCTCAAGTGATTCTCATGCCTCAGCCTCGCAAATAGCTGGGATTACAGGCTCACGCCACCACGCCCAGCTAATTTTTATATTTTTAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTN	pathogenic	5,538
A genetic variant on chromosome 1, position 23808179, affects the gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?	pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']	TAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCTGCTTTCCTGGGTGGGGCTCCCTTCCCTCCCCCTCCCTGCTAGGGATCCGCAGGGCTCACTCCCTCGCTTCCCTCAGGTCTCTCTCAAATGCTACCTTCTGAGTGAGGCCACTCTACAGAAAGGCCTGGCACTGCCTTAACCTGCTTCATTTTTTCTCCACAGTGTTTATGAACACCTGGCCTGCTGTATGTTTGTTTATTTATTATCTGTCTCATAGTACTAGAGTGTCAGCCTCATGAGGGCAGAGACTCTGTTTTGGTCACAGCTGAATCCTTAATGCTGAGAACAGTGCCTAGCACACTAGGCACCGTTAGGTTAGGTTTTAATAGGTGAATAAATGGTCTTACAATGTGCTATTTACACGCCTGTAATCTTCCATCTGTCTTCCCCACCCACCATAACATGAGCTCCCAGAGGGCAGGGATTGGGTCTTGTTACCATTGTCTAAGTCAGCACTTAACCTGGCACATCGATCCATATTTCCGAAGTAACTGATGGAAGAGGGAGGTCAGAGGAAGCTACTGCCAGACGTCACACAGCTCAACCTGTTCCCTGATAAATTTTCAAAAAGGGGATTCTGAGATATCACTGCCATGAAACAGAGAAGCACAGAGGAGCAGGAGTGTCCTGAGCGTGATCAGGATGAAGTTTTGCCTCAGACTCACCTCAGCTGTGCAGAATTCCCCTTTACCTGCCTGGCAAGGCATAGGAGAGGAAGTCACTCTTCCTGTCTGCCTGGCTGGGAAACGCATGAGCTGAAGGAAAGCCCAGGAACCAGGGCAGGGTATCACAGTAAGCTGAAAAATGAGGAGACCACAGAACTACGAACCTTAACCTTGACAGCCACAACTCTGAGGAAACCGACCCAGAACATAACAGACTCACCTGGCTTAGACACGAACCTCTAGGGGATAATTGAGAGGAAAAAAAAAGTGGCTGGAACTGCCATCACTATCCTAGAGATGGAAGGTTAGGCCAATGCTACAGCAAGGTAGCTGTGGTCAGACACTAAGAATGCTCCTTCTATCTGGCTGCCAGCCAATGGATCTCCATTCTGGACCAGCCCACGAGAAGCAAACCTCAAAGGAAACTAATCTGAGGTCTTAGCTCAATCTGTGGGGAACGGCATTAAAGCCTCTCCCTCTGAGTGACCTCTGCTAGCTTCTCTACCTCCTGCTTCCTCATCTGCTTCTGCTACACACCCGCACACTGAAAACCCTGTATATTGTATGAGTCCTCCCTGAACCCCACATCAGTCCTGAGGTGCAATTCTGCCTAGTCATCTTTCCTCTTCCCTCAACAGCAGCTTACTTTATGTTCTTCAAGCTTCACTGAGGCCTCTTTTGCAAATCCTCCCAGATCTCCTCAGCTGGGATGGGGCCCCTCTAGGCTTCCTGAGCCCCATGCTTCCTCCCTTCATGGCATCTGTCATAATGCAGTGGGATTGCCATGTAACTCCCTTGACTGTCTCCCCAACACAGAGCTGTACACTTCACATCTGGGCAGGGTCACCATGACTGTGTCCACCATTGCCAGCTTGGAACCTGGCATACTGGCATCAGTAAATGTTTGCTGAAAGAATAAATGATAACAAGCTGTCCTGCCCACCGTGACCTTTGGGAGAATGGGCATATGCTTTTGATTACCTGCAGGGCCATCAAGGTGTTGGCCAGGGCTTGACCATAGGTGTCATGGCAGTGGACAGCCAGGGCAGCCAGAGGCACTTCCTGCATGACAGCAGATAGCATGTCTTTCATGATCCCTGGGGTGCCCACACCAATGGTGTCCCCCAGGGAGATCTCGTAGCAGCCCATTGAGTAGAACTTCTTGGTGACCTAAGGAAGCAAGCAGGCACTTGGAGGATACAGAATCCACCAGCCAGGGGATCCATGCACTCAGAAGAGGGGGCCTTTGCCTGGGCAGAACACTTCTGGGTATGACGCACTCAGTTCCTACTGGATTACATGCTCCTCACCACTCCAACTGGGAATGATGATCCTCAATCTATGATCAGGAGACTGAGGCGTAAGGGGCAGAGCCAGCCGCTGGAGCCAGCCCACAGTCCTGAAGCTCCAACCCCCGTGCTTTCCTCCCTACCTGTGCCCCTCAGACTTCAGTCTCACTTACGGCTGTCACATCATACTGTCAGACCCAGGTGCTGGAATCAGTGAAGTTGATTCCTTCCATGTCGTTTTATCCTCAGCAATAAAATCCATGAAATCATGGGTCTGAGATGCTAGTTATATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTAAC	TAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCTGCTTTCCTGGGTGGGGCTCCCTTCCCTCCCCCTCCCTGCTAGGGATCCGCAGGGCTCACTCCCTCGCTTCCCTCAGGTCTCTCTCAAATGCTACCTTCTGAGTGAGGCCACTCTACAGAAAGGCCTGGCACTGCCTTAACCTGCTTCATTTTTTCTCCACAGTGTTTATGAACACCTGGCCTGCTGTATGTTTGTTTATTTATTATCTGTCTCATAGTACTAGAGTGTCAGCCTCATGAGGGCAGAGACTCTGTTTTGGTCACAGCTGAATCCTTAATGCTGAGAACAGTGCCTAGCACACTAGGCACCGTTAGGTTAGGTTTTAATAGGTGAATAAATGGTCTTACAATGTGCTATTTACACGCCTGTAATCTTCCATCTGTCTTCCCCACCCACCATAACATGAGCTCCCAGAGGGCAGGGATTGGGTCTTGTTACCATTGTCTAAGTCAGCACTTAACCTGGCACATCGATCCATATTTCCGAAGTAACTGATGGAAGAGGGAGGTCAGAGGAAGCTACTGCCAGACGTCACACAGCTCAACCTGTTCCCTGATAAATTTTCAAAAAGGGGATTCTGAGATATCACTGCCATGAAACAGAGAAGCACAGAGGAGCAGGAGTGTCCTGAGCGTGATCAGGATGAAGTTTTGCCTCAGACTCACCTCAGCTGTGCAGAATTCCCCTTTACCTGCCTGGCAAGGCATAGGAGAGGAAGTCACTCTTCCTGTCTGCCTGGCTGGGAAACGCATGAGCTGAAGGAAAGCCCAGGAACCAGGGCAGGGTATCACAGTAAGCTGAAAAATGAGGAGACCACAGAACTACGAACCTTAACCTTGACAGCCACAACTCTGAGGAAACCGACCCAGAACATAACAGACTCACCTGGCTTAGACACGAACCTCTAGGGGATAATTGAGAGGAAAAAAAAAGTGGCTGGAACTGCCATCACTATCCTAGAGATGGAAGGTTAGGCCAATGCTACAGCAAGGTAGCTGTGGTCAGACACTAAGAATGCTCCTTCTATCTGGCTGCCAGCCAATGGATCTCCATTCTGGACCAGCCCACGAGAAGCAAACCTCAAAGGAAACTAATCTGAGGTCTTAGCTCAATCTGTGGGGAACGGCATTAAAGCCTCTCCCTCTGAGTGACCTCTGCTAGCTTCTCTACCTCCTGCTTCCTCATCTGCTTCTGCTACACACCCGCACACTGAAAACCCTGTATATTGTATGAGTCCTCCCTGAACCCCACATCAGTCCTGAGGTGCAATTCTGCCTAGTCATCTTTCCTCTTCCCTCAACAGCAGCTTACTTTATGTTCTTCAAGCTTCACTGAGGCCTCTTTTGCAAATCCTCCCAGATCTCCTCAGCTGGGATGGGGCCCCTCTAGGCTTCCTGAGCCCCATGCTTCCTCCCTTCATGGCATCTGTCATAATGCAGTGGGATTGCCATGTAACTCCCTTGACTGTCTCCCCAACACAGAGCTGTACACTTCACATCTGGGCAGGGTCACCATGACTGTGTCCACCATTGCCAGCTTGGAACCTGGCATACTGGCATCAGTAAATGTTTGCTGAAAGAATAAATGATAACAAGCTGTCCTGCCCACCGTGACCTTTGGGAGAATGGGCATATGCTTTTGATTACCTGCAGGGCCATCAAGGTGTTGGCCAGGGCTTGACCATAGGTGTCATATGGCAGTGGACAGCCAGGGCAGCCAGAGGCACTTCCTGCATGACAGCAGATAGCATGTCTTTCATGATCCCTGGGGTGCCCACACCAATGGTGTCCCCCAGGGAGATCTCGTAGCAGCCCATTGAGTAGAACTTCTTGGTGACCTAAGGAAGCAAGCAGGCACTTGGAGGATACAGAATCCACCAGCCAGGGGATCCATGCACTCAGAAGAGGGGGCCTTTGCCTGGGCAGAACACTTCTGGGTATGACGCACTCAGTTCCTACTGGATTACATGCTCCTCACCACTCCAACTGGGAATGATGATCCTCAATCTATGATCAGGAGACTGAGGCGTAAGGGGCAGAGCCAGCCGCTGGAGCCAGCCCACAGTCCTGAAGCTCCAACCCCCGTGCTTTCCTCCCTACCTGTGCCCCTCAGACTTCAGTCTCACTTACGGCTGTCACATCATACTGTCAGACCCAGGTGCTGGAATCAGTGAAGTTGATTCCTTCCATGTCGTTTTATCCTCAGCAATAAAATCCATGAAATCATGGGTCTGAGATGCTAGTTATATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTA	pathogenic	5,540
Evaluate the clinical significance of the mutation at chromosome 1, position 23808274 in gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']	TACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCTGCTTTCCTGGGTGGGGCTCCCTTCCCTCCCCCTCCCTGCTAGGGATCCGCAGGGCTCACTCCCTCGCTTCCCTCAGGTCTCTCTCAAATGCTACCTTCTGAGTGAGGCCACTCTACAGAAAGGCCTGGCACTGCCTTAACCTGCTTCATTTTTTCTCCACAGTGTTTATGAACACCTGGCCTGCTGTATGTTTGTTTATTTATTATCTGTCTCATAGTACTAGAGTGTCAGCCTCATGAGGGCAGAGACTCTGTTTTGGTCACAGCTGAATCCTTAATGCTGAGAACAGTGCCTAGCACACTAGGCACCGTTAGGTTAGGTTTTAATAGGTGAATAAATGGTCTTACAATGTGCTATTTACACGCCTGTAATCTTCCATCTGTCTTCCCCACCCACCATAACATGAGCTCCCAGAGGGCAGGGATTGGGTCTTGTTACCATTGTCTAAGTCAGCACTTAACCTGGCACATCGATCCATATTTCCGAAGTAACTGATGGAAGAGGGAGGTCAGAGGAAGCTACTGCCAGACGTCACACAGCTCAACCTGTTCCCTGATAAATTTTCAAAAAGGGGATTCTGAGATATCACTGCCATGAAACAGAGAAGCACAGAGGAGCAGGAGTGTCCTGAGCGTGATCAGGATGAAGTTTTGCCTCAGACTCACCTCAGCTGTGCAGAATTCCCCTTTACCTGCCTGGCAAGGCATAGGAGAGGAAGTCACTCTTCCTGTCTGCCTGGCTGGGAAACGCATGAGCTGAAGGAAAGCCCAGGAACCAGGGCAGGGTATCACAGTAAGCTGAAAAATGAGGAGACCACAGAACTACGAACCTTAACCTTGACAGCCACAACTCTGAGGAAACCGACCCAGAACATAACAGACTCACCTGGCTTAGACACGAACCTCTAGGGGATAATTGAGAGGAAAAAAAAAGTGGCTGGAACTGCCATCACTATCCTAGAGATGGAAGGTTAGGCCAATGCTACAGCAAGGTAGCTGTGGTCAGACACTAAGAATGCTCCTTCTATCTGGCTGCCAGCCAATGGATCTCCATTCTGGACCAGCCCACGAGAAGCAAACCTCAAAGGAAACTAATCTGAGGTCTTAGCTCAATCTGTGGGGAACGGCATTAAAGCCTCTCCCTCTGAGTGACCTCTGCTAGCTTCTCTACCTCCTGCTTCCTCATCTGCTTCTGCTACACACCCGCACACTGAAAACCCTGTATATTGTATGAGTCCTCCCTGAACCCCACATCAGTCCTGAGGTGCAATTCTGCCTAGTCATCTTTCCTCTTCCCTCAACAGCAGCTTACTTTATGTTCTTCAAGCTTCACTGAGGCCTCTTTTGCAAATCCTCCCAGATCTCCTCAGCTGGGATGGGGCCCCTCTAGGCTTCCTGAGCCCCATGCTTCCTCCCTTCATGGCATCTGTCATAATGCAGTGGGATTGCCATGTAACTCCCTTGACTGTCTCCCCAACACAGAGCTGTACACTTCACATCTGGGCAGGGTCACCATGACTGTGTCCACCATTGCCAGCTTGGAACCTGGCATACTGGCATCAGTAAATGTTTGCTGAAAGAATAAATGATAACAAGCTGTCCTGCCCACCGTGACCTTTGGGAGAATGGGCATATGCTTTTGATTACCTGCAGGGCCATCAAGGTGTTGGCCAGGGCTTGACCATAGGTGTCATGGCAGTGGACAGCCAGGGCAGCCAGAGGCACTTCCTGCATGACAGCAGATAGCATGTCTTTCATGATCCCTGGGGTGCCCACACCAATGGTGTCCCCCAGGGAGATCTCGTAGCAGCCCATTGAGTAGAACTTCTTGGTGACCTAAGGAAGCAAGCAGGCACTTGGAGGATACAGAATCCACCAGCCAGGGGATCCATGCACTCAGAAGAGGGGGCCTTTGCCTGGGCAGAACACTTCTGGGTATGACGCACTCAGTTCCTACTGGATTACATGCTCCTCACCACTCCAACTGGGAATGATGATCCTCAATCTATGATCAGGAGACTGAGGCGTAAGGGGCAGAGCCAGCCGCTGGAGCCAGCCCACAGTCCTGAAGCTCCAACCCCCGTGCTTTCCTCCCTACCTGTGCCCCTCAGACTTCAGTCTCACTTACGGCTGTCACATCATACTGTCAGACCCAGGTGCTGGAATCAGTGAAGTTGATTCCTTCCATGTCGTTTTATCCTCAGCAATAAAATCCATGAAATCATGGGTCTGAGATGCTAGTTATATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTAACCTGTGTGGCAAGTTATTTAGTGTCAGTTTTCTCAACTGTAAAAGGGAATAATAATACCAAATTTGCACAGTGGTTTTGAGGACTAAATGACATAA	TACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCTGCTTTCCTGGGTGGGGCTCCCTTCCCTCCCCCTCCCTGCTAGGGATCCGCAGGGCTCACTCCCTCGCTTCCCTCAGGTCTCTCTCAAATGCTACCTTCTGAGTGAGGCCACTCTACAGAAAGGCCTGGCACTGCCTTAACCTGCTTCATTTTTTCTCCACAGTGTTTATGAACACCTGGCCTGCTGTATGTTTGTTTATTTATTATCTGTCTCATAGTACTAGAGTGTCAGCCTCATGAGGGCAGAGACTCTGTTTTGGTCACAGCTGAATCCTTAATGCTGAGAACAGTGCCTAGCACACTAGGCACCGTTAGGTTAGGTTTTAATAGGTGAATAAATGGTCTTACAATGTGCTATTTACACGCCTGTAATCTTCCATCTGTCTTCCCCACCCACCATAACATGAGCTCCCAGAGGGCAGGGATTGGGTCTTGTTACCATTGTCTAAGTCAGCACTTAACCTGGCACATCGATCCATATTTCCGAAGTAACTGATGGAAGAGGGAGGTCAGAGGAAGCTACTGCCAGACGTCACACAGCTCAACCTGTTCCCTGATAAATTTTCAAAAAGGGGATTCTGAGATATCACTGCCATGAAACAGAGAAGCACAGAGGAGCAGGAGTGTCCTGAGCGTGATCAGGATGAAGTTTTGCCTCAGACTCACCTCAGCTGTGCAGAATTCCCCTTTACCTGCCTGGCAAGGCATAGGAGAGGAAGTCACTCTTCCTGTCTGCCTGGCTGGGAAACGCATGAGCTGAAGGAAAGCCCAGGAACCAGGGCAGGGTATCACAGTAAGCTGAAAAATGAGGAGACCACAGAACTACGAACCTTAACCTTGACAGCCACAACTCTGAGGAAACCGACCCAGAACATAACAGACTCACCTGGCTTAGACACGAACCTCTAGGGGATAATTGAGAGGAAAAAAAAAGTGGCTGGAACTGCCATCACTATCCTAGAGATGGAAGGTTAGGCCAATGCTACAGCAAGGTAGCTGTGGTCAGACACTAAGAATGCTCCTTCTATCTGGCTGCCAGCCAATGGATCTCCATTCTGGACCAGCCCACGAGAAGCAAACCTCAAAGGAAACTAATCTGAGGTCTTAGCTCAATCTGTGGGGAACGGCATTAAAGCCTCTCCCTCTGAGTGACCTCTGCTAGCTTCTCTACCTCCTGCTTCCTCATCTGCTTCTGCTACACACCCGCACACTGAAAACCCTGTATATTGTATGAGTCCTCCCTGAACCCCACATCAGTCCTGAGGTGCAATTCTGCCTAGTCATCTTTCCTCTTCCCTCAACAGCAGCTTACTTTATGTTCTTCAAGCTTCACTGAGGCCTCTTTTGCAAATCCTCCCAGATCTCCTCAGCTGGGATGGGGCCCCTCTAGGCTTCCTGAGCCCCATGCTTCCTCCCTTCATGGCATCTGTCATAATGCAGTGGGATTGCCATGTAACTCCCTTGACTGTCTCCCCAACACAGAGCTGTACACTTCACATCTGGGCAGGGTCACCATGACTGTGTCCACCATTGCCAGCTTGGAACCTGGCATACTGGCATCAGTAAATGTTTGCTGAAAGAATAAATGATAACAAGCTGTCCTGCCCACCGTGACCTTTGGGAGAATGGGCATATGCTTTTGATTACCTGCAGGGCCATCAAGGTGTTGGCCAGGGCTTGACCATAGGTGTCATGGCAGTGGACAGCCAGGGCAGCCAGAGGCACTTCCTGCATGACAGCAGATAGCATGTCTTTCATGATCCCTGGGGTGCCCACACCAATGGTGTCCCCAGGGAGATCTCGTAGCAGCCCATTGAGTAGAACTTCTTGGTGACCTAAGGAAGCAAGCAGGCACTTGGAGGATACAGAATCCACCAGCCAGGGGATCCATGCACTCAGAAGAGGGGGCCTTTGCCTGGGCAGAACACTTCTGGGTATGACGCACTCAGTTCCTACTGGATTACATGCTCCTCACCACTCCAACTGGGAATGATGATCCTCAATCTATGATCAGGAGACTGAGGCGTAAGGGGCAGAGCCAGCCGCTGGAGCCAGCCCACAGTCCTGAAGCTCCAACCCCCGTGCTTTCCTCCCTACCTGTGCCCCTCAGACTTCAGTCTCACTTACGGCTGTCACATCATACTGTCAGACCCAGGTGCTGGAATCAGTGAAGTTGATTCCTTCCATGTCGTTTTATCCTCAGCAATAAAATCCATGAAATCATGGGTCTGAGATGCTAGTTATATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTAACCTGTGTGGCAAGTTATTTAGTGTCAGTTTTCTCAACTGTAAAAGGGAATAATAATACCAAATTTGCACAGTGGTTTTGAGGACTAAATGACATAAN	pathogenic	5,544
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 23810790, gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): what disease(s) if pathogenic?	pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase', 'Inborn_genetic_diseases', 'Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency']	CTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTAACCTGTGTGGCAAGTTATTTAGTGTCAGTTTTCTCAACTGTAAAAGGGAATAATAATACCAAATTTGCACAGTGGTTTTGAGGACTAAATGACATAAGTTCTTGGGCTGGTCAAACTCAATTCCCATGCCATGTTCTTCTCAGTGTTGACCTGGTGACTGTTCAGAGGACATCAGGGTTGTGGCCTTTCAATCACTACAAGGAACTATGGGAACTCCTGGGTAAGGAGCCCCTCCTCAGAGAATCACCTCAACGACCAGACTGGAAACTGAATTGGAGGTTTTCAGGCTGGATAGAGGCCAGGGGCTTCAAGGACTACATGTTCGGCTAGGAGGGGGGCCTCTAGGGAGCAAGTGCAGGGCTGTGCTCACAGCAGGAGCTTAATGAAGGAGCTGGGTGAATGAATGAAGTCAGGAACCTGCCAGAAAGGGTGGGGAGAGGAACCTATGCGCTCAGGGGCAGACAAGGTGGCCAACCCTCACCAAACCCCCCGCCCTGACACATGCACACACCTCAGCTACTTTAGCTGGGGAGATCTTCCCTTCATAAGGGCAGCCAAGAGCACAGGAGACGTACCTGTGGGAAGACAGGGGAGGAATGAGGTCAGTGTCCTGAGCTTTTTGGCTAGCAGAACTGAGGCAGGGCTGTTTAACACACATTTCTGATCAGTGTGCAATCAACACCTGCAGCTGGGCGGAGTAAGGGCAGGGATGGTACAATTCAGTGCCAGGAGGAGGCAGTAGAGAGCAATGGCAGGGAACTGGGGGACAATGGACCTACAATTGAGGAAGCAGAAGTTGCACAGGCCTCAGGAGAGGCAGCCAAGGATTTACAATAAGCGGAGGAGGAGCTAGAGAGGGCAAGGAGAGTAAGCAGCTGGGTTGTAAGGTGGGGAGATGGAGCAAAACTACGTGCCAGAGGAGCTGGGGCCAGTACTCCAAAAGGAGACCAAAGACTGGGTAAAACCAAACTCAGAACAAGAGCTGAGTTGGATATGAGTCAGTAACAGGCTGGGCTGGCCTGAGGACCAAGGGATGAGCTGCCCCAGTGAGATGCTAGAGGATTCATTCATTCATTTATTCACCTGATGTTTACTGAGTTGCCTGCTATGTGCCAGGCACTGGCACAGAGCAGTGGGCAAGACTGATAAGGTTCCTGCCCTCTCAGAGCTTATCTCAAGTTAGGGAGATGGCCAATAAAAAAGCAACCAAGTAAGTAATGGAGAAAATCTCAGAAGTGATGTGCCACAGAGGAAAGATGGGAAATGATAGGAACAAGTGGAGGAGGCCAACTAGTGAGGGTCCAGGAAAGATCCCTCTGAGGACAGGATGCTGGAGCCGAGAGGAGCCGGGGGTGGTCTGTGAGAAGAGCATTCCAGGCAGAGGGAAGACCTGGGCAAAGCCCTGAGACAGAAGAGCCAGGCATGCTCCAGACAGAACAAAGGACAGCTGAGGCAGACAGAGCAAGGGGAAAGGAAGTATGAGATGAGGAGGTCAGCAAGGTGGGCACAGGTCTGATCATGGGTCTTAGGGCTATGGTAAGGAGGGTGGATTTGGGATGTAGGTGACTTCTATTCCCACCTGCCCTTTTGGGAGCTGTCTTTAAAACCCTTTAGAGTCAAGCAAATTCTGCATATTAAGAGGCATAATAAATGTTCAACAGATAAATAATTTCAGACTCAAAGATCTCAGTGTACTTTTCCATTTTGATGCTCCCACTTATTCTCCAACCACTGCTGAGCAAGAAAAAGGTAAGAGAGATGCTTAGAAAGACACAGATCTGGGAGTTGGGCCAATGTTACTGGAGCACCTGCTTCCCCATTCATCCACCTGCCCGTCAGTGACTGAGTGCCCACTGTGGCTAGGCCCCAAGCTGGGAGAGTGGAGCACCCCAGGGACTGGGAGAGATGTGGGCTTTGCCCTCATGGAGTGCACGGTCTAGTGGGGTGGGGCAGGGAGGGAATTTAACAAGCAGCTAAGTGCTACATTTAGAGGATGTCCCGACACCATGGGGTCCCAGAGAAGGGCACTAACTCCAGCTGAAGGACTGGAGCAGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACCTGCCCACCTTGGCCTCCCAAGGAAGGTTGTTCTGAGTCTAGAGAGAGCACGTGCAAAGGCCCAGAGGCAAGAGTGGAGGCATGTGACAAACAGAAAGAAGTTCCAGTTGGGCTGGAGTGTACCATGAAGAGGAAGCAGGGGCCAGAAGGGAACTTGAACGGTACGGCTACAGAAAAGAGCCGGGACCAAATCATGCAGGGTTTGTAAACCTCATTAAAAAGTCTGCACTTGATTAGTCACT	CTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTAACCTGTGTGGCAAGTTATTTAGTGTCAGTTTTCTCAACTGTAAAAGGGAATAATAATACCAAATTTGCACAGTGGTTTTGAGGACTAAATGACATAAGTTCTTGGGCTGGTCAAACTCAATTCCCATGCCATGTTCTTCTCAGTGTTGACCTGGTGACTGTTCAGAGGACATCAGGGTTGTGGCCTTTCAATCACTACAAGGAACTATGGGAACTCCTGGGTAAGGAGCCCCTCCTCAGAGAATCACCTCAACGACCAGACTGGAAACTGAATTGGAGGTTTTCAGGCTGGATAGAGGCCAGGGGCTTCAAGGACTACATGTTCGGCTAGGAGGGGGGCCTCTAGGGAGCAAGTGCAGGGCTGTGCTCACAGCAGGAGCTTAATGAAGGAGCTGGGTGAATGAATGAAGTCAGGAACCTGCCAGAAAGGGTGGGGAGAGGAACCTATGCGCTCAGGGGCAGACAAGGTGGCCAACCCTCACCAAACCCCCCGCCCTGACACATGCACACACCTCAGCTACTTTAGCTGGGGAGATCTTCCCTTCATAAGGGCAGCCAAGAGCACAGGACGTACCTGTGGGAAGACAGGGGAGGAATGAGGTCAGTGTCCTGAGCTTTTTGGCTAGCAGAACTGAGGCAGGGCTGTTTAACACACATTTCTGATCAGTGTGCAATCAACACCTGCAGCTGGGCGGAGTAAGGGCAGGGATGGTACAATTCAGTGCCAGGAGGAGGCAGTAGAGAGCAATGGCAGGGAACTGGGGGACAATGGACCTACAATTGAGGAAGCAGAAGTTGCACAGGCCTCAGGAGAGGCAGCCAAGGATTTACAATAAGCGGAGGAGGAGCTAGAGAGGGCAAGGAGAGTAAGCAGCTGGGTTGTAAGGTGGGGAGATGGAGCAAAACTACGTGCCAGAGGAGCTGGGGCCAGTACTCCAAAAGGAGACCAAAGACTGGGTAAAACCAAACTCAGAACAAGAGCTGAGTTGGATATGAGTCAGTAACAGGCTGGGCTGGCCTGAGGACCAAGGGATGAGCTGCCCCAGTGAGATGCTAGAGGATTCATTCATTCATTTATTCACCTGATGTTTACTGAGTTGCCTGCTATGTGCCAGGCACTGGCACAGAGCAGTGGGCAAGACTGATAAGGTTCCTGCCCTCTCAGAGCTTATCTCAAGTTAGGGAGATGGCCAATAAAAAAGCAACCAAGTAAGTAATGGAGAAAATCTCAGAAGTGATGTGCCACAGAGGAAAGATGGGAAATGATAGGAACAAGTGGAGGAGGCCAACTAGTGAGGGTCCAGGAAAGATCCCTCTGAGGACAGGATGCTGGAGCCGAGAGGAGCCGGGGGTGGTCTGTGAGAAGAGCATTCCAGGCAGAGGGAAGACCTGGGCAAAGCCCTGAGACAGAAGAGCCAGGCATGCTCCAGACAGAACAAAGGACAGCTGAGGCAGACAGAGCAAGGGGAAAGGAAGTATGAGATGAGGAGGTCAGCAAGGTGGGCACAGGTCTGATCATGGGTCTTAGGGCTATGGTAAGGAGGGTGGATTTGGGATGTAGGTGACTTCTATTCCCACCTGCCCTTTTGGGAGCTGTCTTTAAAACCCTTTAGAGTCAAGCAAATTCTGCATATTAAGAGGCATAATAAATGTTCAACAGATAAATAATTTCAGACTCAAAGATCTCAGTGTACTTTTCCATTTTGATGCTCCCACTTATTCTCCAACCACTGCTGAGCAAGAAAAAGGTAAGAGAGATGCTTAGAAAGACACAGATCTGGGAGTTGGGCCAATGTTACTGGAGCACCTGCTTCCCCATTCATCCACCTGCCCGTCAGTGACTGAGTGCCCACTGTGGCTAGGCCCCAAGCTGGGAGAGTGGAGCACCCCAGGGACTGGGAGAGATGTGGGCTTTGCCCTCATGGAGTGCACGGTCTAGTGGGGTGGGGCAGGGAGGGAATTTAACAAGCAGCTAAGTGCTACATTTAGAGGATGTCCCGACACCATGGGGTCCCAGAGAAGGGCACTAACTCCAGCTGAAGGACTGGAGCAGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACCTGCCCACCTTGGCCTCCCAAGGAAGGTTGTTCTGAGTCTAGAGAGAGCACGTGCAAAGGCCCAGAGGCAAGAGTGGAGGCATGTGACAAACAGAAAGAAGTTCCAGTTGGGCTGGAGTGTACCATGAAGAGGAAGCAGGGGCCAGAAGGGAACTTGAACGGTACGGCTACAGAAAAGAGCCGGGACCAAATCATGCAGGGTTTGTAAACCTCATTAAAAAGTCTGCACTTGATTAGTCACTNN	pathogenic	5,553
Determine if the mutation at chromosome 1, position 23814311 in gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase) is benign or pathogenic. If pathogenic, what disease(s) is associated?	pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']	TGAAGGACTGGAGCAGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACCTGCCCACCTTGGCCTCCCAAGGAAGGTTGTTCTGAGTCTAGAGAGAGCACGTGCAAAGGCCCAGAGGCAAGAGTGGAGGCATGTGACAAACAGAAAGAAGTTCCAGTTGGGCTGGAGTGTACCATGAAGAGGAAGCAGGGGCCAGAAGGGAACTTGAACGGTACGGCTACAGAAAAGAGCCGGGACCAAATCATGCAGGGTTTGTAAACCTCATTAAAAAGTCTGCACTTGATTAGTCACTGAAAGCTTTTTAACCAGGAGGGATGTGATCAGATGTGCACTTTTGTGGGGTTTTTTTGGTTTTTGTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACTACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTTTCAAACTCCTTACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGTTCAGCCCAGATGTGCACTTTTCAACGATCATTCTGGCTGCAATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTGTCACCCAGGCCGGAGTACAGTGGTGTGATCTCGGCTCACCACAACCTCCGCCTCCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGATGGAATTACAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTATCCACTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGTGATCCACCTGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTCTGGCTGCAATTTGCACAGCAGTGTGACCTTACAGTAGAGTATTCGCCCTTCCTGGGCCTCGGTTTTGTAATTTATAAAGTGAGGATAACCTACTCCCTGCTGGGCTATTGTGAGGTTTCAATTATTATAGATAATACACACACAATGCCTGGAACCACTGATATTAGAGATGTGATGTTGGAAACATAGAAGCCTAGGTAATTCTCCAGGGATGTGTGAAGAGCTAGTGATAAAGCCAGGACTCAACTGACCTCCACAAACCCGTTAGTGTCCTGTCCTGCTAGATTCCTTTAGCATGATAGCAGTGGTGCTATCATGGCTCACTGCAGCCTCAAACTCCTGGTCTCAAGCCATCCTCTGCCTCAGTCTCCCAAGTTGCTAGGACTACAGGCGCATGCTATCATGGCTAGCTGGTAAACTGACCCAAAATTCAGGTTTGAGAGAAAGTACTTCCTAGGATTTCTTCTGACCACACTTATTTGGGAAAAGATGTCTAGGTGTGGAGCTCAGGCTGCCCCCACCCAGGATAAGAAGTTTGTGGCAGGAGGACCACTTGAGTCAGAGTCTAGCCCCATTCCAGAACGGTACAGAGGAAAGGATACCAATGTGCTCTGACTCACCCCCGCACAGAAATATTGGCTGACTGCGCTGCCTTCAGGATTGCGTCAAACCTCTGAAAACTCTCCTCTATGGAACAATTGATGTTCTTCTTGGTGAAGAGCTCTGAGGCAGCTCCAAAGATGACTACTTCCTTGGCTCCAGCAGCAACCTGCCAACATCCAGGTGAACTCCTTTCAGCACTTTTCTCTTTTTTTGTTTGAGATGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTCAGCCATCATGCCCGGCCAGCACTTTTCTCTTTAAAGAACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGA	TGAAGGACTGGAGCAGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACCTGCCCACCTTGGCCTCCCAAGGAAGGTTGTTCTGAGTCTAGAGAGAGCACGTGCAAAGGCCCAGAGGCAAGAGTGGAGGCATGTGACAAACAGAAAGAAGTTCCAGTTGGGCTGGAGTGTACCATGAAGAGGAAGCAGGGGCCAGAAGGGAACTTGAACGGTACGGCTACAGAAAAGAGCCGGGACCAAATCATGCAGGGTTTGTAAACCTCATTAAAAAGTCTGCACTTGATTAGTCACTGAAAGCTTTTTAACCAGGAGGGATGTGATCAGATGTGCACTTTTGTGGGGTTTTTTTGGTTTTTGTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACTACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTTTCAAACTCCTTACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGTTCAGCCCAGATGTGCACTTTTCAACGATCATTCTGGCTGCAATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTGTCACCCAGGCCGGAGTACAGTGGTGTGATCTCGGCTCACCACAACCTCCGCCTCCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGATGGAATTACAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTATCCACTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGTGATCCACCTGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTCTGGCTGCAATTTGCACAGCAGTGTGACCTTACAGTAGAGTATTCGCCCTTCCTGGGCCTCGGTTTTGTAATTTATAAAGTGAGGATAACCTACTCCCTGCTGGGCTATTGTGAGGTTTCAATTATTATAGATAATACACACACAATGCCTGGAACCACTGATATTAGAGATGTGATGTTGGAAACATAGAAGCCTAGGTAATTCTCCAGGGATGTGTGAAGAGCTAGTGATAAAGCCAGGACTCAACTGACCTCCACAAACCCGTTAGTGTCCTGTCCTGCTAGATTCCTTTAGCATGATAGCAGTGGTGCTATCATGGCTCACTGCAGCCTCAAACTCCTGGTCTCAAGCCATCCTCTGCCTCAGTCTCCCAAGTTGCTAGGACTACAGGCGCATGCTATCATGGCTAGCTGGTAAACTGACCCAAAATTCAGGTTTGAGAGAAAGTACTTCCTAGGATTTCTTCTGACCACACTTATTTGGGAAAAGATGTCTAGGTGTGGAGCTCAGGCTGCCCCCACCCAGGATAAGAAGTTTGTGGCAGGAGGACCACTTGAGTCAGAGTCTAGCCCCATTCCAGAACGGTACAGAGGAAAGGATACCAATGTGCTCTGACTCACCCCCGCACAGAAATATTGGCTGACTGCGCTGCCTTCAGGATTGCGTCAAACCTCTGAAAACTCTCCTCTATGGAACAATTGATGTTCTTCTTGGTGAAGAGCTCTGAGGCAGCTCCAAAGATCTACTTCCTTGGCTCCAGCAGCAACCTGCCAACATCCAGGTGAACTCCTTTCAGCACTTTTCTCTTTTTTTGTTTGAGATGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTCAGCCATCATGCCCGGCCAGCACTTTTCTCTTTAAAGAACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGANN	pathogenic	5,560
Considering the variant on chromosome 1, location 23814325, involving gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?	pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']	AGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACCTGCCCACCTTGGCCTCCCAAGGAAGGTTGTTCTGAGTCTAGAGAGAGCACGTGCAAAGGCCCAGAGGCAAGAGTGGAGGCATGTGACAAACAGAAAGAAGTTCCAGTTGGGCTGGAGTGTACCATGAAGAGGAAGCAGGGGCCAGAAGGGAACTTGAACGGTACGGCTACAGAAAAGAGCCGGGACCAAATCATGCAGGGTTTGTAAACCTCATTAAAAAGTCTGCACTTGATTAGTCACTGAAAGCTTTTTAACCAGGAGGGATGTGATCAGATGTGCACTTTTGTGGGGTTTTTTTGGTTTTTGTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACTACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTTTCAAACTCCTTACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGTTCAGCCCAGATGTGCACTTTTCAACGATCATTCTGGCTGCAATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTGTCACCCAGGCCGGAGTACAGTGGTGTGATCTCGGCTCACCACAACCTCCGCCTCCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGATGGAATTACAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTATCCACTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGTGATCCACCTGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTCTGGCTGCAATTTGCACAGCAGTGTGACCTTACAGTAGAGTATTCGCCCTTCCTGGGCCTCGGTTTTGTAATTTATAAAGTGAGGATAACCTACTCCCTGCTGGGCTATTGTGAGGTTTCAATTATTATAGATAATACACACACAATGCCTGGAACCACTGATATTAGAGATGTGATGTTGGAAACATAGAAGCCTAGGTAATTCTCCAGGGATGTGTGAAGAGCTAGTGATAAAGCCAGGACTCAACTGACCTCCACAAACCCGTTAGTGTCCTGTCCTGCTAGATTCCTTTAGCATGATAGCAGTGGTGCTATCATGGCTCACTGCAGCCTCAAACTCCTGGTCTCAAGCCATCCTCTGCCTCAGTCTCCCAAGTTGCTAGGACTACAGGCGCATGCTATCATGGCTAGCTGGTAAACTGACCCAAAATTCAGGTTTGAGAGAAAGTACTTCCTAGGATTTCTTCTGACCACACTTATTTGGGAAAAGATGTCTAGGTGTGGAGCTCAGGCTGCCCCCACCCAGGATAAGAAGTTTGTGGCAGGAGGACCACTTGAGTCAGAGTCTAGCCCCATTCCAGAACGGTACAGAGGAAAGGATACCAATGTGCTCTGACTCACCCCCGCACAGAAATATTGGCTGACTGCGCTGCCTTCAGGATTGCGTCAAACCTCTGAAAACTCTCCTCTATGGAACAATTGATGTTCTTCTTGGTGAAGAGCTCTGAGGCAGCTCCAAAGATGACTACTTCCTTGGCTCCAGCAGCAACCTGCCAACATCCAGGTGAACTCCTTTCAGCACTTTTCTCTTTTTTTGTTTGAGATGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTCAGCCATCATGCCCGGCCAGCACTTTTCTCTTTAAAGAACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAA	AGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACCTGCCCACCTTGGCCTCCCAAGGAAGGTTGTTCTGAGTCTAGAGAGAGCACGTGCAAAGGCCCAGAGGCAAGAGTGGAGGCATGTGACAAACAGAAAGAAGTTCCAGTTGGGCTGGAGTGTACCATGAAGAGGAAGCAGGGGCCAGAAGGGAACTTGAACGGTACGGCTACAGAAAAGAGCCGGGACCAAATCATGCAGGGTTTGTAAACCTCATTAAAAAGTCTGCACTTGATTAGTCACTGAAAGCTTTTTAACCAGGAGGGATGTGATCAGATGTGCACTTTTGTGGGGTTTTTTTGGTTTTTGTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACTACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTTTCAAACTCCTTACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGTTCAGCCCAGATGTGCACTTTTCAACGATCATTCTGGCTGCAATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTGTCACCCAGGCCGGAGTACAGTGGTGTGATCTCGGCTCACCACAACCTCCGCCTCCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGATGGAATTACAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTATCCACTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGTGATCCACCTGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTCTGGCTGCAATTTGCACAGCAGTGTGACCTTACAGTAGAGTATTCGCCCTTCCTGGGCCTCGGTTTTGTAATTTATAAAGTGAGGATAACCTACTCCCTGCTGGGCTATTGTGAGGTTTCAATTATTATAGATAATACACACACAATGCCTGGAACCACTGATATTAGAGATGTGATGTTGGAAACATAGAAGCCTAGGTAATTCTCCAGGGATGTGTGAAGAGCTAGTGATAAAGCCAGGACTCAACTGACCTCCACAAACCCGTTAGTGTCCTGTCCTGCTAGATTCCTTTAGCATGATAGCAGTGGTGCTATCATGGCTCACTGCAGCCTCAAACTCCTGGTCTCAAGCCATCCTCTGCCTCAGTCTCCCAAGTTGCTAGGACTACAGGCGCATGCTATCATGGCTAGCTGGTAAACTGACCCAAAATTCAGGTTTGAGAGAAAGTACTTCCTAGGATTTCTTCTGACCACACTTATTTGGGAAAAGATGTCTAGGTGTGGAGCTCAGGCTGCCCCCACCCAGGATAAGAAGTTTGTGGCAGGAGGACCACTTGAGTCAGAGTCTAGCCCCATTCCAGAACGGTACAGAGGAAAGGATACCAATGTGCTCTGACTCACCCCCGCACAGAAATATTGGCTGACTGCGCTGCCTTCAGGATTGCGTCAAACCTCTGAAAACTCTCCTCTATGGAACAATTGATGTTCTTCTTGGTGAAGAGCTCTGAGGCAGCTCCAAAGATGACTACTTCCTTGGCTGCCAACATCCAGGTGAACTCCTTTCAGCACTTTTCTCTTTTTTTGTTTGAGATGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTCAGCCATCATGCCCGGCCAGCACTTTTCTCTTTAAAGAACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAANNNNNNNNNNNNN	pathogenic	5,562
Evaluate if the mutation on chromosome 1 at position 23816705 in HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase) is benign or pathogenic. Disease name(s) if pathogenic?	pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase', 'Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency']	TCATGCCCGGCCAGCACTTTTCTCTTTAAAGAACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGTTGATGCCAGGAAACTTCTGAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACACAAAGCTGGTGGTTTCTATAACAGAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGG	TCATGCCCGGCCAGCACTTTTCTCTTTAAAGAACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGGACTGGGTAGTTGATGCCAGGAAACTTCTGAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACACAAAGCTGGTGGTTTCTATAACAGAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTC	pathogenic	5,564
Variant in gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase), located at chromosome 1 position 23816736: benign or pathogenic? What disease(s) does it cause if pathogenic?	pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']	AACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGTTGATGCCAGGAAACTTCTGAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACACAAAGCTGGTGGTTTCTATAACAGAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGT	AACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGTTGATGCCAGGAAACTTCTAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACACAAAGCTGGTGGTTTCTATAACAGAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTN	pathogenic	5,565
Assess the variant on chromosome 1, position 23817497, impacting HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']	TTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGTTGATGCCAGGAAACTTCTGAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACACAAAGCTGGTGGTTTCTATAACAGAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCCAGTATTACAGGCATGAGCCATCATGCCCAGCCTGTCAAATAATTTTTGAAAGCCCTCCATGTTGCAGGCATTGTGCTAGGTGCCGGGGATATAGCAGTAAGCAGAAGCAGAACAGACAGGATTCTGCCCTTCGGGAACTTACACACTATTGTTTCCAACAAGCACTCACTATTAAAGCTAGGATGGACGTGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAGCTTTTCTTATTGAAAAAATAATCAATATATGATTCTTTCAGAAAAACATGCCAAAAACAAAAGAAAACCACCCTTAGAATCTCCCAGTGATAACGCTATTAACACCCTGGTGTGTAACTTTCTAGATCTGTGCAGCCCAATATGTCACTAGTCACATGTGGTTATTTAAATTTAATAAAAATTGTATAAAAATAAAAATACAATTCCTTGGCCACACTAGTCACATCTCAAGTTCTCAAGGGCCACATGGGTATAGTGGCCACCACATGGAAAAGCTCAGGTCCAGAATATTTCCATCTTCACAGAAAGTGCTGGTCTAGGTCCTAGTCTAGATAAATGCTCCCATACATATATAAACTTTTTTCTTACATAAAAGTGTTAAGATTAAAAAATACATGGCCAGGCGCATTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCCGGCCAAC	TTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGTTGATGCCAGGAAACTTCTGAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACCAAAGCTGGTGGTTTCTATAACAGAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCCAGTATTACAGGCATGAGCCATCATGCCCAGCCTGTCAAATAATTTTTGAAAGCCCTCCATGTTGCAGGCATTGTGCTAGGTGCCGGGGATATAGCAGTAAGCAGAAGCAGAACAGACAGGATTCTGCCCTTCGGGAACTTACACACTATTGTTTCCAACAAGCACTCACTATTAAAGCTAGGATGGACGTGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAGCTTTTCTTATTGAAAAAATAATCAATATATGATTCTTTCAGAAAAACATGCCAAAAACAAAAGAAAACCACCCTTAGAATCTCCCAGTGATAACGCTATTAACACCCTGGTGTGTAACTTTCTAGATCTGTGCAGCCCAATATGTCACTAGTCACATGTGGTTATTTAAATTTAATAAAAATTGTATAAAAATAAAAATACAATTCCTTGGCCACACTAGTCACATCTCAAGTTCTCAAGGGCCACATGGGTATAGTGGCCACCACATGGAAAAGCTCAGGTCCAGAATATTTCCATCTTCACAGAAAGTGCTGGTCTAGGTCCTAGTCTAGATAAATGCTCCCATACATATATAAACTTTTTTCTTACATAAAAGTGTTAAGATTAAAAAATACATGGCCAGGCGCATTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCCGGCCAACN	pathogenic	5,569
Variant at chromosome position 23817520, chromosome 1, gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): benign or pathogenic? If pathogenic, what condition(s) does it relate to?	pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']	AATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGTTGATGCCAGGAAACTTCTGAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACACAAAGCTGGTGGTTTCTATAACAGAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCCAGTATTACAGGCATGAGCCATCATGCCCAGCCTGTCAAATAATTTTTGAAAGCCCTCCATGTTGCAGGCATTGTGCTAGGTGCCGGGGATATAGCAGTAAGCAGAAGCAGAACAGACAGGATTCTGCCCTTCGGGAACTTACACACTATTGTTTCCAACAAGCACTCACTATTAAAGCTAGGATGGACGTGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAGCTTTTCTTATTGAAAAAATAATCAATATATGATTCTTTCAGAAAAACATGCCAAAAACAAAAGAAAACCACCCTTAGAATCTCCCAGTGATAACGCTATTAACACCCTGGTGTGTAACTTTCTAGATCTGTGCAGCCCAATATGTCACTAGTCACATGTGGTTATTTAAATTTAATAAAAATTGTATAAAAATAAAAATACAATTCCTTGGCCACACTAGTCACATCTCAAGTTCTCAAGGGCCACATGGGTATAGTGGCCACCACATGGAAAAGCTCAGGTCCAGAATATTTCCATCTTCACAGAAAGTGCTGGTCTAGGTCCTAGTCTAGATAAATGCTCCCATACATATATAAACTTTTTTCTTACATAAAAGTGTTAAGATTAAAAAATACATGGCCAGGCGCATTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCCGGCCAACCTGGTGAAACCCCATCTCTACTA	AATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGTTGATGCCAGGAAACTTCTGAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACACAAAGCTGGTGGTTTCTATAACAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCCAGTATTACAGGCATGAGCCATCATGCCCAGCCTGTCAAATAATTTTTGAAAGCCCTCCATGTTGCAGGCATTGTGCTAGGTGCCGGGGATATAGCAGTAAGCAGAAGCAGAACAGACAGGATTCTGCCCTTCGGGAACTTACACACTATTGTTTCCAACAAGCACTCACTATTAAAGCTAGGATGGACGTGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAGCTTTTCTTATTGAAAAAATAATCAATATATGATTCTTTCAGAAAAACATGCCAAAAACAAAAGAAAACCACCCTTAGAATCTCCCAGTGATAACGCTATTAACACCCTGGTGTGTAACTTTCTAGATCTGTGCAGCCCAATATGTCACTAGTCACATGTGGTTATTTAAATTTAATAAAAATTGTATAAAAATAAAAATACAATTCCTTGGCCACACTAGTCACATCTCAAGTTCTCAAGGGCCACATGGGTATAGTGGCCACCACATGGAAAAGCTCAGGTCCAGAATATTTCCATCTTCACAGAAAGTGCTGGTCTAGGTCCTAGTCTAGATAAATGCTCCCATACATATATAAACTTTTTTCTTACATAAAAGTGTTAAGATTAAAAAATACATGGCCAGGCGCATTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCCGGCCAACCTGGTGAAACCCCATCTCTACTANN	pathogenic	5,571
For chromosome 1, position 23825388, gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?	pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase', 'Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency']	ATTTACATATTTATTTATTTATTTATTTATTTGAGATACAGTCTCATTCTGTCTCCAGGCTGGAGAGCAGTGGCGCGATCTTGGCTCACTGCAACCTTCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCACCACCACACCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGATTTCACCAGGTTGGCCAGGCTGGTCCCGAACTCCCGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACCACGCCTGGTGAGCCATTTACATATTAACCCATACTGTCCTCTCAACAATCTTATCAGGTAGGAACTATCATCATCCCCATTTTACTGTAAGAAATCTAAGGCCCCACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACTCCAGTCTGGGTGACAGATGACAGAGCAAGACACCGTCTCAGGAAAAAAAAAAAGAAAGAAAAGAAAAGAAATCTGAGACCCAAAGAGATTAAGTAATCTTCCCGAGGTGACATGGGGAGTTACTCACTGAGGCAATATCTAAACCTGGCAGTGTGGCTCTAGAGCACAAGCTCCTAACCTCTGGGCCACTGTTGCCTCTTTACCACCGTTCGTTCGGTCCACAGTCTTCTCCTGGTTAAACATCCCGTTCCTCCTCTGTAAAGCTCTGCTCAGAGAGGGTCCCCCTAACCACACAAGTACTGTGCCACAGTGTCCTGAGGTATGGTGTACCTGCATCAACACCAACAGCGAATACTGACTAAACCCAGTGTTAAACTACAGGCCAGGGACTATTATTATCCCAACTCCGTAGGTGAAGAAACTAAGCCTCAGAAAGGTTACCCAAAAATCACAATTAGAAAGTGACAGAGCTTGGACTTGAACCCATATCTAGGCCTAATACTAATACTGGTTCCTATGCTTGGAACCCCATGGAGGGCCATCTCATTACACCAAATATTTCTTAAAAGCTTATTAATATCTACTATTGCGTTTAACTTTCCAAGTTGGAATTGCCATCTTCATTTTACACATGAGCAGGTGGTGCAGGTGAATGGCCAAGTAAAGATATTAACGTGGCTTTCTGAGAGGGACCCAGTGCCAGGAGTGTATTTTTCCCTCTATACAGTTATAACTCCTTCTCAACTCCCTAAGGTAAAAATACCACCACCGACTGATCACTTATTAGGAGCCAGAACACTGCCAGATGTGTTACTTACATTTTCTCTAATTTCCAAAACAACCCCAAGGGAATGTTGTCCGTTTTACAGACGAAAGAGCTGAGGTTTAGAGAAAGTAAATAACTATGTCATTAAGTCTAGAAAGTGGCAGAACTATTGGGACACCCTAGCTTCAGCTTTTATTTTTTCTGCTCCATACAGCTACGTCTCCCACACTTTTTCTGCGCTGAGAATGGGAGAGGGGAAAACATCAGGATCGAACAGGATCAAAGTGCAATTCCAAGGGAATCACAGCTTGGCTCCAATCAACGCAAGTCCCGCTCGGTAGGCTGGGATAGTTCCCCAAGCATCTCTAAAAGCAACAACAGTTGGAAATGGAGACGAAGGAAATGGAAGCGTGTTCTTGATTTTCACTAATGAAGAGTTGGAGAGGTCTGAAGTTCAATTAGAGGGAGAAAGGGGCCAGGGTCATCGGAAAGGGCCCTGGGCGGGGAATCAGGGCACCTAGGATGGCGTCCCAGGTCTCCATGACCCAGACAAGTCACTCCACCTCTCCGGACCTCAGTTTTCCCATCCCCTTCAAAGGATTTGAGGGGAAAAGGGAGGGTCCAGGACTCCAACGCCCTCCCGACTCTGGCCTGAGAGCTGTCCGGCCTCGCCTCTAAGAGAGCAGTCACCACGGGCCAAGCCCCCAACCCTGACAGTCAGAGTGCCTGCAGGGCCGCCGCCTCGGCGGCTCGGGGCACTTACAGCCCGGAGGGACGCCAAGCCCACCAGTCGCCGCGGAAGCGCCTTCCTCATTGCTGCCATCTTGGCCCAGAATCCCCCGCGGCAGTCCAGCTGGGCCCCGCGTGACCGATGGCTCGTCTGGTGGGCGCGGCCCCGCCCCCGCCCCTCCGCCGTGACTTCCGAAGCTGGCTCCACCCCCAGCCTCTCTCCGTTTTGATTCCGAGCGCCTCTTCCATGCCAGGCCAAGTGAGACGCTAGGAATATAAAGATGAACAGAATCAGCCTGGACACCATGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCTAACATGGCGAAACCCCCGTCTCTCCAAAAAATCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATTGTTTGAACCCGGGAGGCGAGGTTGCAGCGAGCGGAGATCGTGCCACTGCACTCCAGCCTGGGCGACACAGTGAGAGCCTGTCCAAAACAAAAAACCCAAAACCAAACAAACAAAAACATGAAAAGAAATTAACCAAATTCTGTGGCTTCTTGTGTTTAGAGTGTGGGAGGTGTGAGGAGACACATATTAATAGTTACACAAACAGTTGTGTCATTTCTAACTTGCACTATAAGAAGCAACGATTTGCTACTCACTGTTCCGAGTTCTTAGCACGGATTAACTCACGCATCACGATCTTCAGGATTCAAACACAGGCAGGCAGCTCCAGAGAGGGGGCATCCTTAGATTTCATACCTTAAAAAAATGATTAAGATTTATCTAGGTGTACTTTCTGAAGGGCTGAAAAAAAAAAAAATCTATCCAGGTGAAGAGGATACAAGAAAAACTTTCCAGACGGTGTAGCATTCGCAATGGCCCTGAGGCAAAGAAAATGCTGAGAACACTGTTTTTCTCTCTTTTGTTTTGTTGGTTTGTTTTGTTTGTTTGAGATGGAGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCGCGATTTCGGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGAGAGTCTCGTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTAGTGTTTTTAGTAGAAACGAGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCGAGAGCCACCGCCCCCGGCCAGAGCACTGTTTTCAAACTGTATGTTGTACCCCACTAATTGGTCACAGTATCAATTTAGTGGGTACAAACTTTATTTAAAACAAAGAACTAGAATTTTATCTATCTATCATCTATCTATCTATCTATCTATCTATCTATCTATCTATCCATCTATATTTATTTATTAAGACGAAGTCTCACTGTGTTGCCCAGGCTGGAGTGCGGTGGCGTGATCTCGGCTCACTGCAACCTCTGACCCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAAGTGCCCATCACCGTGCCCAGATAATGTTTGTATTTTTAGTAGAGATGGAGGATTTCACCATGTTGGCCTGGGCTGAAGCAATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCAGGCCCCAAATATAAAATATTGCTCTATAAAATAATAAAAGAGTGATCTAAAAAAATAAAAATAATAATAAAAGAGAAAAGGCTGGGTGCAGTGGCTTACACCAGTAATTCCAGCACTTTGGGAGGTCGAGGTGGGAGGATCACTTGAGGTCAGAACTTGAAGACCACTCTGGCCAATAAAGTGAGACCCCAAGTCTATTCAATAAATAAGAAAAATAGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT	ATTTACATATTTATTTATTTATTTATTTATTTGAGATACAGTCTCATTCTGTCTCCAGGCTGGAGAGCAGTGGCGCGATCTTGGCTCACTGCAACCTTCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCACCACCACACCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGATTTCACCAGGTTGGCCAGGCTGGTCCCGAACTCCCGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACCACGCCTGGTGAGCCATTTACATATTAACCCATACTGTCCTCTCAACAATCTTATCAGGTAGGAACTATCATCATCCCCATTTTACTGTAAGAAATCTAAGGCCCCACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACTCCAGTCTGGGTGACAGATGACAGAGCAAGACACCGTCTCAGGAAAAAAAAAAAGAAAGAAAAGAAAAGAAATCTGAGACCCAAAGAGATTAAGTAATCTTCCCGAGGTGACATGGGGAGTTACTCACTGAGGCAATATCTAAACCTGGCAGTGTGGCTCTAGAGCACAAGCTCCTAACCTCTGGGCCACTGTTGCCTCTTTACCACCGTTCGTTCGGTCCACAGTCTTCTCCTGGTTAAACATCCCGTTCCTCCTCTGTAAAGCTCTGCTCAGAGAGGGTCCCCCTAACCACACAAGTACTGTGCCACAGTGTCCTGAGGTATGGTGTACCTGCATCAACACCAACAGCGAATACTGACTAAACCCAGTGTTAAACTACAGGCCAGGGACTATTATTATCCCAACTCCGTAGGTGAAGAAACTAAGCCTCAGAAAGGTTACCCAAAAATCACAATTAGAAAGTGACAGAGCTTGGACTTGAACCCATATCTAGGCCTAATACTAATACTGGTTCCTATGCTTGGAACCCCATGGAGGGCCATCTCATTACACCAAATATTTCTTAAAAGCTTATTAATATCTACTATTGCGTTTAACTTTCCAAGTTGGAATTGCCATCTTCATTTTACACATGAGCAGGTGGTGCAGGTGAATGGCCAAGTAAAGATATTAACGTGGCTTTCTGAGAGGGACCCAGTGCCAGGAGTGTATTTTTCCCTCTATACAGTTATAACTCCTTCTCAACTCCCTAAGGTAAAAATACCACCACCGACTGATCACTTATTAGGAGCCAGAACACTGCCAGATGTGTTACTTACATTTTCTCTAATTTCCAAAACAACCCCAAGGGAATGTTGTCCGTTTTACAGACGAAAGAGCTGAGGTTTAGAGAAAGTAAATAACTATGTCATTAAGTCTAGAAAGTGGCAGAACTATTGGGACACCCTAGCTTCAGCTTTTATTTTTTCTGCTCCATACAGCTACGTCTCCCACACTTTTTCTGCGCTGAGAATGGGAGAGGGGAAAACATCAGGATCGAACAGGATCAAAGTGCAATTCCAAGGGAATCACAGCTTGGCTCCAATCAACGCAAGTCCCGCTCGGTAGGCTGGGATAGTTCCCCAAGCATCTCTAAAAGCAACAACAGTTGGAAATGGAGACGAAGGAAATGGAAGCGTGTTCTTGATTTTCACTAATGAAGAGTTGGAGAGGTCTGAAGTTCAATTAGAGGGAGAAAGGGGCCAGGGTCATCGGAAAGGGCCCTGGGCGGGGAATCAGGGCACCTAGGATGGCGTCCCAGGTCTCCATGACCCAGACAAGTCACTCCACCTCTCCGGACCTCAGTTTTCCCATCCCCTTCAAAGGATTTGAGGGGAAAAGGGAGGGTCCAGGACTCCAACGCCCTCCCGACTCTGGCCTGAGAGCTGTCCGGCCTCGCCTCTAAGAGAGCAGTCACCACGGGCCAAGCCCCCAACCCTGACAGTCAGAGTGCCTGCAGGGCCGCCGCCTCGGCGGCTCGGGGCACTTACAGCCCGGAGGGACGCCAAGCCCACCAGTCGCCGGGAAGCGCCTTCCTCATTGCTGCCATCTTGGCCCAGAATCCCCCGCGGCAGTCCAGCTGGGCCCCGCGTGACCGATGGCTCGTCTGGTGGGCGCGGCCCCGCCCCCGCCCCTCCGCCGTGACTTCCGAAGCTGGCTCCACCCCCAGCCTCTCTCCGTTTTGATTCCGAGCGCCTCTTCCATGCCAGGCCAAGTGAGACGCTAGGAATATAAAGATGAACAGAATCAGCCTGGACACCATGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCTAACATGGCGAAACCCCCGTCTCTCCAAAAAATCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATTGTTTGAACCCGGGAGGCGAGGTTGCAGCGAGCGGAGATCGTGCCACTGCACTCCAGCCTGGGCGACACAGTGAGAGCCTGTCCAAAACAAAAAACCCAAAACCAAACAAACAAAAACATGAAAAGAAATTAACCAAATTCTGTGGCTTCTTGTGTTTAGAGTGTGGGAGGTGTGAGGAGACACATATTAATAGTTACACAAACAGTTGTGTCATTTCTAACTTGCACTATAAGAAGCAACGATTTGCTACTCACTGTTCCGAGTTCTTAGCACGGATTAACTCACGCATCACGATCTTCAGGATTCAAACACAGGCAGGCAGCTCCAGAGAGGGGGCATCCTTAGATTTCATACCTTAAAAAAATGATTAAGATTTATCTAGGTGTACTTTCTGAAGGGCTGAAAAAAAAAAAAATCTATCCAGGTGAAGAGGATACAAGAAAAACTTTCCAGACGGTGTAGCATTCGCAATGGCCCTGAGGCAAAGAAAATGCTGAGAACACTGTTTTTCTCTCTTTTGTTTTGTTGGTTTGTTTTGTTTGTTTGAGATGGAGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCGCGATTTCGGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGAGAGTCTCGTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTAGTGTTTTTAGTAGAAACGAGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCGAGAGCCACCGCCCCCGGCCAGAGCACTGTTTTCAAACTGTATGTTGTACCCCACTAATTGGTCACAGTATCAATTTAGTGGGTACAAACTTTATTTAAAACAAAGAACTAGAATTTTATCTATCTATCATCTATCTATCTATCTATCTATCTATCTATCTATCTATCCATCTATATTTATTTATTAAGACGAAGTCTCACTGTGTTGCCCAGGCTGGAGTGCGGTGGCGTGATCTCGGCTCACTGCAACCTCTGACCCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAAGTGCCCATCACCGTGCCCAGATAATGTTTGTATTTTTAGTAGAGATGGAGGATTTCACCATGTTGGCCTGGGCTGAAGCAATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCAGGCCCCAAATATAAAATATTGCTCTATAAAATAATAAAAGAGTGATCTAAAAAAATAAAAATAATAATAAAAGAGAAAAGGCTGGGTGCAGTGGCTTACACCAGTAATTCCAGCACTTTGGGAGGTCGAGGTGGGAGGATCACTTGAGGTCAGAACTTGAAGACCACTCTGGCCAATAAAGTGAGACCCCAAGTCTATTCAATAAATAAGAAAAATAGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTN	pathogenic	5,582
Mutation found at chromosome 1 position 23845814, gene FUCA1 (alpha-L-fucosidase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).	pathogenic; ['Fucosidosis']	GTGTGCACCACCACGCCTGGTTACTTTTTGTATTTTCTGTAGAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTGGAACTCCTGGACTCAAGAAATCCACCCGCCTCTCCTTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTGTACCTGGCCTTCATTACTTCTTTCCAGCCTTCTTTTTAACATAAACATTTAACGCTATATTTTCCTGAAGTACTTTTATTTTTAAAGCTACATCTTATAAGGTTCAATATATAGTGTTACTATCATTCCAAGTATTTTCTTTTCTTTTTTTTTTAGAAGTGTGCATGAAGTTGCTTTAAGACTGTGAAGAACCATATAAGCAATATTATTATCATCAGCTTGCTCTCTAATTCTGGGCAGAAAGTGATCTAATTAAAATTGGCTGTGCTAATCTACTTACACTAATGTGTTACTTTTTTCTTTCACAACCAGGCTTCATTTGCCTCACAAGAACTACATATTTGGAATTCTTTATATCTCATGGCACAATCCATAAATTTATGAATCAGTAACATAATGAGTTAGTGTATTTTAACTTTTACAAACACAGTTTTTTCTTCTCCAAGTTTTTGTTATTGTTCTTTAATTATATTGTAGACACTAAATAGCTTATATGATGTTGCTTCTTTGGTATTTGAGATTTGCAAATGTTCCATATGTGCTTGAGAAAAACACATATTCCTTAAATGTTGGATAAAGATTTCTAAATATATCTACTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTCTGGAAGGCTGTGAGGTAGGTGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCATCGTGGTGTGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGAGGAAGGATCACTTGAACCTGGGAGGTGAAGGTTGCAGTGAGCCGAGATCACACCACTGTACTCCAGCCTGGGCAACAGAGCAAGACTCTGCCTCAAAACAAAACAAAACAAGATTTCTAAACATATCTATTAAGGAAAAATTAAATAGAAAACTTGATTAGATCTCTAACAAAGAGGCTGAACTGGTAGTCAATTCAGAAGAATGGTATTAGAAGTGAGAAGCAGAAAAAACACAGGAATTACATTTTTTGTTCAGTGTTAAGGAGATTTTGCAAATCTCCTTAAAAAAAAAACACACACAAACCAGAAACTGATCTTAAAGCTATAAGCAGTATAAGTTGAAACTAGGAAAAGAAAGCTATACCATGTTTTTTTGGTAGAAATGATTGTGATGTACAAATTTTTTATTTGATCATACTTAAAAAGACAGAGCAGAATCACATTCATTTTCTTAATAGTATCACTGTAAACATAGCGAATTTTGGCGCTTTTAGATTGCTCTGAAAATTTCTGAAGAGTTGACCATAGCAGCCTGGTAAGCCTTTTCCTTTCCCCCAAAGCTCTCCTGCCCTTTGCAGAAAGACTGTTGGTGACAACTGATGCTAACTAAATAGCATGTGGTTGAGCTTGCCAAATCCTTCCACCTCCTCCCATAGGCAACAGGGTGACTTGGCTTAAAGGCATTGAGTAAGCAAGTAGGTTATCAGAGAACAGAGGGAAGATTCCATTGTAGATAATTTCCAAATATTACAATTGATGAACTCAGAGTTCAACTGCTCAGTTCCTTCTTCTGCTGACCTGATACAGATATAATCACAATGGATCTCAGATCTTTGGTCCATTTAGACATCAGGGTAATGTACTCAGTTCCTTTAATTAAAATGTGTTGGAAAAGCCATCTCTGGGTGGAGAAGAGAAGTTCGTTGATTATAGTGATGGTACTATAAGAGAAAAACTGAAGCAGGAAAACAGTGAGCAGCGCCTCTTTCTTCTTGCACTCAAATGATTACTTCACTCCTGTCAGCTTTATAGTCCAAGCAAACTCTGCGGGGACAGCAGAGGGTGGCAACTGGGGTAGAGAGATGAAGAGACCTTTATCTGGATCTGTGGACCACTTCAGATCTCCTTGAATTCCCAGCATTGTTATCTGCAGAAAACAAAAGGGAATGAAACAAACTGGTAATGCACTAATGAGTATAGAATACAGGCTGACTATGGTAGGAAACAGCCACGCTGGGCCAGGGCAGGAAAGCCAGTCTAAAAGAGGTGTGAATATGGGAGAAACCTGGCAGGGAAGGAAGAAAGGAAGGATCTGCCAATTCCTTTACAGAAAGTTACATCTTAAGACTGACTAAGCCTCTTTACCTTTGTAGTTGAGGTAGTTATGGGGGATTCAAGGTTTAAGACTCCATTTTCTGGCCAGTGCAGAAAAATGGCATAAACAGCCGATCCCTTTGAGGTATACCTGGGAAAACAGAAACAACACTGTCAAAGATACCTGACTTGTTATCCTGATATACAACTTTATACATTTCCTCCTTTTTAATGTTAATTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATGTTGGCTCACTGTAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGTTCAGCCTCCTGAGTCACTGGATTACAGGTGTGCACCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGCATTTTGCTATGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCTGCATTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCATTGCACTCAGCTCCTTATTTATTTTTTTTTTGAGACGAAGCCTTGTTGTCCAGGCTCTTGTTGTCCAGGATGGAGTGCAGTGGCGTGATCTTGGCTCACTACAACCTCCACTTCCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCTGAGTAACTGGGATTACAGGTGCCTGCCACCATACCCTGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTCGGATTACAGGCGTGAGTCACTGTTTTGGGCCTAATTTCTTTTTTTTTAAGTGATGGAGTCTTGCTGTGTTGCCCAACACAACTTGCTGTGTTGTGCTGGGCTCAAGTGATCCTCCCACCTTGGCCTTAGAAAGTGCTGGGATTACAGGCATGAAGCACTGCACAAGGCCACTCATTCCCCTTTCAATTATCTACCAAATCCCAGTCCTCGAGTCTGTCACTGTTACTAGGGAGCACCAATAACTCAATACCAATGAAGGTGTGCAGGAAGGAGGCAGTCTATAAAACTCTATCTGGTGATACTATCTATTTTCCCTACCAATTGGGTTAAGTTGTCTTTAAAAATTATCTCCTACATCAGTTACTGCAAATAAATAGAGCCATTTACCTTATTATTCAAATCTCTTTTCTATTCCAAATCCATGTGAAAATAGCAGAGACTATAACAAGGACAAGACATGCAATGAAAACAAATTTGTTGTTCAGAGATTTCTTTTTTTTTTTTTCTGAGACTGCACCCAGCCTGTTCTGAAATTTCACTATGTTTAGAGAAGAGGATGAAAATCACTACTATGGTTTGAATGCATCTCCCAAATCTCATGATGGAAACTTAATCCCCAAATTCATATGTCGATGGTATAGTATTTAGAGGTGAGGCCTTTGGGAAGTAATTAGGATCATATAAGGTAATCAGGGCAGGGCCCCATGATGGGACTGATGGCTTTATAAAAGGAAGAAAGACCTGAGTGGACATGCCCACTCTCATCCCCAACCATGTCATGATGTAGCAGGAAGGCCCTTACCAGATGCTGGTGCTATGCTCTTGAACTTCCCAGCCTCCAGAACTGTGAGCTAAATAAACCTCTATTCTTTAAAAATTATCCAGTCTAAGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCAGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAA	GTGTGCACCACCACGCCTGGTTACTTTTTGTATTTTCTGTAGAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTGGAACTCCTGGACTCAAGAAATCCACCCGCCTCTCCTTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTGTACCTGGCCTTCATTACTTCTTTCCAGCCTTCTTTTTAACATAAACATTTAACGCTATATTTTCCTGAAGTACTTTTATTTTTAAAGCTACATCTTATAAGGTTCAATATATAGTGTTACTATCATTCCAAGTATTTTCTTTTCTTTTTTTTTTAGAAGTGTGCATGAAGTTGCTTTAAGACTGTGAAGAACCATATAAGCAATATTATTATCATCAGCTTGCTCTCTAATTCTGGGCAGAAAGTGATCTAATTAAAATTGGCTGTGCTAATCTACTTACACTAATGTGTTACTTTTTTCTTTCACAACCAGGCTTCATTTGCCTCACAAGAACTACATATTTGGAATTCTTTATATCTCATGGCACAATCCATAAATTTATGAATCAGTAACATAATGAGTTAGTGTATTTTAACTTTTACAAACACAGTTTTTTCTTCTCCAAGTTTTTGTTATTGTTCTTTAATTATATTGTAGACACTAAATAGCTTATATGATGTTGCTTCTTTGGTATTTGAGATTTGCAAATGTTCCATATGTGCTTGAGAAAAACACATATTCCTTAAATGTTGGATAAAGATTTCTAAATATATCTACTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTCTGGAAGGCTGTGAGGTAGGTGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCATCGTGGTGTGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGAGGAAGGATCACTTGAACCTGGGAGGTGAAGGTTGCAGTGAGCCGAGATCACACCACTGTACTCCAGCCTGGGCAACAGAGCAAGACTCTGCCTCAAAACAAAACAAAACAAGATTTCTAAACATATCTATTAAGGAAAAATTAAATAGAAAACTTGATTAGATCTCTAACAAAGAGGCTGAACTGGTAGTCAATTCAGAAGAATGGTATTAGAAGTGAGAAGCAGAAAAAACACAGGAATTACATTTTTTGTTCAGTGTTAAGGAGATTTTGCAAATCTCCTTAAAAAAAAAACACACACAAACCAGAAACTGATCTTAAAGCTATAAGCAGTATAAGTTGAAACTAGGAAAAGAAAGCTATACCATGTTTTTTTGGTAGAAATGATTGTGATGTACAAATTTTTTATTTGATCATACTTAAAAAGACAGAGCAGAATCACATTCATTTTCTTAATAGTATCACTGTAAACATAGCGAATTTTGGCGCTTTTAGATTGCTCTGAAAATTTCTGAAGAGTTGACCATAGCAGCCTGGTAAGCCTTTTCCTTTCCCCCAAAGCTCTCCTGCCCTTTGCAGAAAGACTGTTGGTGACAACTGATGCTAACTAAATAGCATGTGGTTGAGCTTGCCAAATCCTTCCACCTCCTCCCATAGGCAACAGGGTGACTTGGCTTAAAGGCATTGAGTAAGCAAGTAGGTTATCAGAGAACAGAGGGAAGATTCCATTGTAGATAATTTCCAAATATTACAATTGATGAACTCAGAGTTCAACTGCTCAGTTCCTTCTTCTGCTGACCTGATACAGATATAATCACAATGGATCTCAGATCTTTGGTCCATTTAGACATCAGGGTAATGTACTCAGTTCCTTTAATTAAAATGTGTTGGAAAAGCCATCTCTGGGTGGAGAAGAGAAGTTCGTTGATTATAGTGATGGTACTATAAGAGAAAAACTGAAGCAGGAAAACAGTGAGCAGCGCCTCTTTCTTCTTGCACTCAAATGATTACTTCACTCCTGTCAGCTTTATAGTCCAAGCAAACTCTGCGGGGACAGCAGAGGGTGGCAACTGGGGTAGAGAGATGAAGAGACCTTTATCTGGATCTGATCTCCTTGAATTCCCAGCATTGTTATCTGCAGAAAACAAAAGGGAATGAAACAAACTGGTAATGCACTAATGAGTATAGAATACAGGCTGACTATGGTAGGAAACAGCCACGCTGGGCCAGGGCAGGAAAGCCAGTCTAAAAGAGGTGTGAATATGGGAGAAACCTGGCAGGGAAGGAAGAAAGGAAGGATCTGCCAATTCCTTTACAGAAAGTTACATCTTAAGACTGACTAAGCCTCTTTACCTTTGTAGTTGAGGTAGTTATGGGGGATTCAAGGTTTAAGACTCCATTTTCTGGCCAGTGCAGAAAAATGGCATAAACAGCCGATCCCTTTGAGGTATACCTGGGAAAACAGAAACAACACTGTCAAAGATACCTGACTTGTTATCCTGATATACAACTTTATACATTTCCTCCTTTTTAATGTTAATTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATGTTGGCTCACTGTAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGTTCAGCCTCCTGAGTCACTGGATTACAGGTGTGCACCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGCATTTTGCTATGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCTGCATTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCATTGCACTCAGCTCCTTATTTATTTTTTTTTTGAGACGAAGCCTTGTTGTCCAGGCTCTTGTTGTCCAGGATGGAGTGCAGTGGCGTGATCTTGGCTCACTACAACCTCCACTTCCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCTGAGTAACTGGGATTACAGGTGCCTGCCACCATACCCTGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTCGGATTACAGGCGTGAGTCACTGTTTTGGGCCTAATTTCTTTTTTTTTAAGTGATGGAGTCTTGCTGTGTTGCCCAACACAACTTGCTGTGTTGTGCTGGGCTCAAGTGATCCTCCCACCTTGGCCTTAGAAAGTGCTGGGATTACAGGCATGAAGCACTGCACAAGGCCACTCATTCCCCTTTCAATTATCTACCAAATCCCAGTCCTCGAGTCTGTCACTGTTACTAGGGAGCACCAATAACTCAATACCAATGAAGGTGTGCAGGAAGGAGGCAGTCTATAAAACTCTATCTGGTGATACTATCTATTTTCCCTACCAATTGGGTTAAGTTGTCTTTAAAAATTATCTCCTACATCAGTTACTGCAAATAAATAGAGCCATTTACCTTATTATTCAAATCTCTTTTCTATTCCAAATCCATGTGAAAATAGCAGAGACTATAACAAGGACAAGACATGCAATGAAAACAAATTTGTTGTTCAGAGATTTCTTTTTTTTTTTTTCTGAGACTGCACCCAGCCTGTTCTGAAATTTCACTATGTTTAGAGAAGAGGATGAAAATCACTACTATGGTTTGAATGCATCTCCCAAATCTCATGATGGAAACTTAATCCCCAAATTCATATGTCGATGGTATAGTATTTAGAGGTGAGGCCTTTGGGAAGTAATTAGGATCATATAAGGTAATCAGGGCAGGGCCCCATGATGGGACTGATGGCTTTATAAAAGGAAGAAAGACCTGAGTGGACATGCCCACTCTCATCCCCAACCATGTCATGATGTAGCAGGAAGGCCCTTACCAGATGCTGGTGCTATGCTCTTGAACTTCCCAGCCTCCAGAACTGTGAGCTAAATAAACCTCTATTCTTTAAAAATTATCCAGTCTAAGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCAGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAANNNNNNNNNNNNN	pathogenic	5,586
Variant on chromosome 1, at position 23854518, affecting FUCA1 (alpha-L-fucosidase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Fucosidosis']	CCCTCTCCCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCACTGATGCCGAGCCGAAGCTGGACTGTACTGCTGCCACCTCGGGTCACTGCAGCCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTGCAGGTGCGCGCCACCACGCCTGACTGGTTTTCGTATTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACTGCGAGTGATCCGCCAGCCTCGGCCTCCAGAGGTGCCGGGATTGCAGATGGAGTCTGGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGACGTGAGGAGCCCCTCTGCCTGGCTACCCAGTCTGGAAAATGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCACCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCAGCCGCCCCATCTGAGAAGTGAGGAAACCCTCCGCCTGGCAACCGCCCCATATGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCTGGTAAGTGAGGAGCGTCTCTGCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCACCACCCCGTCTGGGAGGTGTACCGAACAGCTCATTGAGAACGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGGGGGAAAGGCGGGGAAAGGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAGGTAGACACGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGTGATCCTGTTGATCGGTGACCCTACCCACAACCCTGTGCTCTCTGAAACGTGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCATAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCCTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAGAATAAATAAATAAATAAATAAATAAATAAAAAACTGGACACCCTACTACCCACACCCACTTTAAGATATAGATTACAACCAACACCGTTAAAGCCCTTTTGCATGCCCTTCTCCATCCCAGCCCCCTCCTAAATTTTGTTTATAATGATCTCGCTTTTCTTCATAATTTTACCTCCAAAATATGCATCTGTAAACAATATGCTGTTTTTGCAAGCTTTTGAACATTATATAAAATAAATCATACTGCATGTTAAAAAAAAAAAAACAAAAACAAAAAACTCAAAGGTGCTCTTACCGAAATGATTTCAGATTCTTCTGTAACATCAGACAATGCCATGTCACGACGATAGCCCCAGGAAAACTTGTCAATGCTGGTGCACATCTCCCACTTGTGATCTGGCAAGCTCTGTGGCTTGAATTTATCTTCACAGTTATAGTATCCTCCATGGTGACAGGAACAGTTCTGACCCCATCGGTCATTTACTACCACCTCATCCTAAGGAGGGAAAGAATATTTGGTCATGAGGAGTAAAACCACTTGACTTCTTTATGTAATACACTTTGGTAAGGCTCTATTTGGAAGCAAGAAACTTAGTCTAGAGCAGTGGCTGTCAACTGGGGGCAATTTTGCTCTGGAGGGGACATTTGGTAAAGTCTAGAGACATTTTTGATTGTCACAACGGGGGTGGTATGCCATCTAGTGGGTAGAGACCAGGGATGTTACTAAACGTCCTACAATGCACAGGACAGCCCCCACAGCAAAGAAATATTCAGCCCTAAATGTCAACAGTACTGAGGTAGAGAAACCCTGCTGCAGAGATACATGTCAGGGCTGGGAGAGCTTGCTTTAAAGATCATCTGGTAAATCACTTTTTCTATAAGAGGAGAAATGAACAGGAGAGGACCTGCCTGGGGCCATGCCCCTAGGCAGTTTCAAAAGCTGGAACTACAAATCAGGTATCTGAACCCATGGCAGGCTGTTTTCCAACTATATAATCCCAGCCTTACTTACGTAAAAAAAAAGTCTTAAGACAATCCCACTCAAAAAAAAAAAAAATAGCAAATTCTTTTTCTTACTTCAAGGTTTAGCTGAAGAATGATAAATCATACATGGAATATCTTAATGTAAATGTTAAATGCAGCATATTTTATAACAGAGTGGCCAATACAAGATAAAAACTGAAACCATTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATAGAGACCAACCTGGCTAACACGGTGAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTAGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTAGGCAACAGCAGAGCGAGACTCCGTCTCAAAAACAAAAACAAAAACAAAACTGAAACCATGTTCAATTCATCACGGCAAAAAGAGATTTATTAAAAGTTTAAAATTCCCATTTCTTGCCTGTTTTAGAGTCATTCACATTGGTATGAAGTTTCTCCTATGGAAGCTAGTTAAGTGCCAAAGAGAAATAGAAGAATAGTCATTATTTGTAACTAGTTCAATCCAATGTCTGGTACTTGATTATCAATGTCTGGGCATCATGGGTCACAGAATTGAAAAGGACAACTCAAGATCAATTCAAGAACAGGTATGTAAAAGCCATTTCAGAGAAAAATGGGGTATTAACAATCCTAATTCTTCATTCAACACCTACCCATCCGCTTATTCAATAAGTATTTACTCAACAACTACCATGGGGCTCACACTGTGGGCAGATACTGGGTCTCCAAGGTGAATAAAACAGAGGTCTTGCCCTCAACCATCCAGCAGAGACTAGCAGAGGAGACAGATATGTGGACAATTACAATATGACATCATATCAGAGTTTATGCCTGGTTACAAGATTATCAAGGGCTTTGAGGTTCATAGCTGGCTCCACCACCTAGTAGTCAAGGGGTCTTAGGCAGGTAACTTTACCTTTTAAGTTAGTTACTTATCTATAAAAACAAACAAACAAAACCAACCAAACAAACAAAATCCAAAGGCAAATATCACCCACCTCACAGGGGTTTGAGAGGGAGGGATAAAAGTGACAGTGTGCCCAGACTCTGGCTCAGAGTGAATAAAGGTGTCTCCTTGCCACACCTCCTCTTTCTCAGAGTCCTCAGGTGATGTGAACGCTCCCTGTACACTCAGCCTGTCAAGGACAGACACAACCATGCACTCCTTCATCCCACAGAAGCTAATGCAGTACCCTCCACTTTGGCATTCGAACCAGTGTCTATGGATTGTGGAGACCTCAGGACATACTTCTACTATCATACTGGTCACCCTACAATGTACTTTGTTTGTATGTCTGTCTTTCTCTTCAGACTGTAGTTCCCTAAGAGCAGAAACCATTCATTCAGCATTTCCAAGGCTTAGCATGCGGCATGCT	CCCTCTCCCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCACTGATGCCGAGCCGAAGCTGGACTGTACTGCTGCCACCTCGGGTCACTGCAGCCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTGCAGGTGCGCGCCACCACGCCTGACTGGTTTTCGTATTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACTGCGAGTGATCCGCCAGCCTCGGCCTCCAGAGGTGCCGGGATTGCAGATGGAGTCTGGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGACGTGAGGAGCCCCTCTGCCTGGCTACCCAGTCTGGAAAATGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCACCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCAGCCGCCCCATCTGAGAAGTGAGGAAACCCTCCGCCTGGCAACCGCCCCATATGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCTGGTAAGTGAGGAGCGTCTCTGCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCACCACCCCGTCTGGGAGGTGTACCGAACAGCTCATTGAGAACGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGGGGGAAAGGCGGGGAAAGGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAGGTAGACACGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGTGATCCTGTTGATCGGTGACCCTACCCACAACCCTGTGCTCTCTGAAACGTGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCATAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCCTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAGAATAAATAAATAAATAAATAAATAAATAAAAAACTGGACACCCTACTACCCACACCCACTTTAAGATATAGATTACAACCAACACCGTTAAAGCCCTTTTGCATGCCCTTCTCCATCCCAGCCCCCTCCTAAATTTTGTTTATAATGATCTCGCTTTTCTTCATAATTTTACCTCCAAAATATGCATCTGTAAACAATATGCTGTTTTTGCAAGCTTTTGAACATTATATAAAATAAATCATACTGCATGTTAAAAAAAAAAAAACAAAAACAAAAAACTCAAAGGTGCTCTTACCGAAATGATTTCAGATTCTTCTGTAACATCAGACAATGCCATGTCACGACGATAGCCCCAGGAAAACTTGTCAATGCTGGTGCACATCTCCCACTTGTGATCTGGCAAGCTCTGTGGCTTGAATTTATCTTCACAGTTATAGTATCCTCCATGGTGACAGAACAGTTCTGACCCCATCGGTCATTTACTACCACCTCATCCTAAGGAGGGAAAGAATATTTGGTCATGAGGAGTAAAACCACTTGACTTCTTTATGTAATACACTTTGGTAAGGCTCTATTTGGAAGCAAGAAACTTAGTCTAGAGCAGTGGCTGTCAACTGGGGGCAATTTTGCTCTGGAGGGGACATTTGGTAAAGTCTAGAGACATTTTTGATTGTCACAACGGGGGTGGTATGCCATCTAGTGGGTAGAGACCAGGGATGTTACTAAACGTCCTACAATGCACAGGACAGCCCCCACAGCAAAGAAATATTCAGCCCTAAATGTCAACAGTACTGAGGTAGAGAAACCCTGCTGCAGAGATACATGTCAGGGCTGGGAGAGCTTGCTTTAAAGATCATCTGGTAAATCACTTTTTCTATAAGAGGAGAAATGAACAGGAGAGGACCTGCCTGGGGCCATGCCCCTAGGCAGTTTCAAAAGCTGGAACTACAAATCAGGTATCTGAACCCATGGCAGGCTGTTTTCCAACTATATAATCCCAGCCTTACTTACGTAAAAAAAAAGTCTTAAGACAATCCCACTCAAAAAAAAAAAAAATAGCAAATTCTTTTTCTTACTTCAAGGTTTAGCTGAAGAATGATAAATCATACATGGAATATCTTAATGTAAATGTTAAATGCAGCATATTTTATAACAGAGTGGCCAATACAAGATAAAAACTGAAACCATTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATAGAGACCAACCTGGCTAACACGGTGAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTAGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTAGGCAACAGCAGAGCGAGACTCCGTCTCAAAAACAAAAACAAAAACAAAACTGAAACCATGTTCAATTCATCACGGCAAAAAGAGATTTATTAAAAGTTTAAAATTCCCATTTCTTGCCTGTTTTAGAGTCATTCACATTGGTATGAAGTTTCTCCTATGGAAGCTAGTTAAGTGCCAAAGAGAAATAGAAGAATAGTCATTATTTGTAACTAGTTCAATCCAATGTCTGGTACTTGATTATCAATGTCTGGGCATCATGGGTCACAGAATTGAAAAGGACAACTCAAGATCAATTCAAGAACAGGTATGTAAAAGCCATTTCAGAGAAAAATGGGGTATTAACAATCCTAATTCTTCATTCAACACCTACCCATCCGCTTATTCAATAAGTATTTACTCAACAACTACCATGGGGCTCACACTGTGGGCAGATACTGGGTCTCCAAGGTGAATAAAACAGAGGTCTTGCCCTCAACCATCCAGCAGAGACTAGCAGAGGAGACAGATATGTGGACAATTACAATATGACATCATATCAGAGTTTATGCCTGGTTACAAGATTATCAAGGGCTTTGAGGTTCATAGCTGGCTCCACCACCTAGTAGTCAAGGGGTCTTAGGCAGGTAACTTTACCTTTTAAGTTAGTTACTTATCTATAAAAACAAACAAACAAAACCAACCAAACAAACAAAATCCAAAGGCAAATATCACCCACCTCACAGGGGTTTGAGAGGGAGGGATAAAAGTGACAGTGTGCCCAGACTCTGGCTCAGAGTGAATAAAGGTGTCTCCTTGCCACACCTCCTCTTTCTCAGAGTCCTCAGGTGATGTGAACGCTCCCTGTACACTCAGCCTGTCAAGGACAGACACAACCATGCACTCCTTCATCCCACAGAAGCTAATGCAGTACCCTCCACTTTGGCATTCGAACCAGTGTCTATGGATTGTGGAGACCTCAGGACATACTTCTACTATCATACTGGTCACCCTACAATGTACTTTGTTTGTATGTCTGTCTTTCTCTTCAGACTGTAGTTCCCTAAGAGCAGAAACCATTCATTCAGCATTTCCAAGGCTTAGCATGCGGCATGCTN	pathogenic	5,598
The mutation impacting FUCA1 (alpha-L-fucosidase 1) on chromosome 1 at position 23863134: benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Fucosidosis']	GGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACCATCCTAGCTAACACCGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGTACTCCAGCCTGGGCGACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAATTAACCTGCACATTGTACACATGTATCCTAAAACTTAAAGTATAATAAAAAAAAAAAGAATGGTGTTTCAAGGAAGCAAAGGAAACAAAATGGTGCTTCAGGACTATAAGACTAAGATTTGCTTTGAAGATGTTTTAAGAGTTGGAACTATTCATAAAATGCATTTTTGTGGATAATTACCAAAGTCTGTACTGTAAAGGACTTATGGAATCCACTGGAGCCCCATTTGTACTCTAGCATATTATTACTCTGAGCCCTATAAGGCATGTATGTTGTGTGTATATACATAAATACATATGTATATACCTATATGGTAAGCATTATTATTCTCATTTGAGCAGCAAGACTTTGATGCTCAGTAGGGCAATTTGTTTCAGGTGACAAGGCTTGTAAGTAACAGGAGGTGGAACTCAAATACAAATCTGCCCATTTGTCCACTGTACTCCATAATTAGGCAGGTAAACTCTAGGAAGATCACTAAGTGGCAAGATATAACAGATGGTCTGTGATTTACTGTGTATAAGAAATTGTACTAGGCAATTTAAACTCATTACCTCATTAGTTCTCATGATTCTAGGATATACTATTATCCCATTTCACAGATAGAGAAACCAAGATCTCGAAAGATAAGTAGTTTGTTCAAGGCAACATAGCCAAGTACGATAAAAGAGTGGGGATCTAAGATTCAGTAATTCTAAATCTGTCCATGTCTCTGATGGTCTCTTACAATTGTTACTATTTTCTTAAGAGAAGTCATCTGGATAGAATCTGAATACAAGGTAATTTTTCTTTTCTTGAGACAAAGTTTTCCTCTGTAGCCCAGGCTGAAGTACAGTAGCAGGATCTCGGCTCACTGCAACTGCCTCCCTGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTATGCACCAGCATGCCTGGCCAATTTTTGTATTTTTTAGTAGAGACGAGATTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGCGCCTGGCTAAAGGTGATTTTCCTTTGCTCTAAAGTGAGGGTCCAGGCAGCTGCCTCTGAAGCTTTAAGGGTCTACCGTCCTCTATGAGTCCCCAGGCTCGAGAAAGGCAAATGGGGATAAAACATTGTGAAGAACTAGTGACAAATCCCTAAGTGAAAGTGATCATTTAAAGAATAATGGTAATAACAACAGCCTTACTTTGTACCAGGCACCGTGACAGATACATTTCACATACTATTCTGAGCCCTACAAAGAAGGCATTATTATCCCCACTTTACAGAGTGAGAATCAAGCTCAGGAGAGTGTTCTGTTTAAGGCATGTAAGTAACAGGAGCCAGAATTCAAACACAAATCTGCCCGATGCCAAACCACCCCCTCTCCAGGGTCCTGACATAGGGAAAACGGCATGTAAGAAGGGAACTAAAATTTTGACTTTCTGCCATCCTGGGTTTTGTGTGATTGTTTCAATGTAGAAGGCAATATGGCCACATGACAGAAGTTCTGAAAGGCAGGAGGAAAGAACATATTTTGTCTTAATACAACCACCACTTTTTATTATTTTGATGTCTTTTAGGTTTTTTTCATACCTATCCCTCCTCCACTTTAATGGTACCCTATAGGAAGCTCTGATTTCATTGATAAAAGTCATAGGGCCAAAATATTTCAGTGTCTTACCTGTTAACAAGGTCGTACAGCTCTGGCATTGTTTTTGCACTGACAAAATGCTGTGTTTTGAAGCCATTTTTCTTATCAAGTAGATAGAGTGGATGGAACCACTCTAAGAGTGAGTGGTATAGTCCATAGCGGATGTTCCTTAAACAGAAAAACAGAACAGCAACTGTCATTAAGCATAGAACAAATAATTTATTTTAAGGAAAATCAGTTCTAGCATTTTTTCATTTCAGTGGCACTCACTCATAAGAGCATATAGAGAGGAATGGGATCCAAAACCATTTCCTTAAATTATTCACTATTCACTTAAGCAAAATGAGGTTTACTGTGTTTTTGATTAAACACATAACTACCTTTTATACATAAATATCTTAACACCAAAATATTATTTAAACCATCTTTTATCTTTTAAGTCAATTATCCCAACAGAGTATAGTCCTGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGTCCATGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGTCTCCACAAAAACTGTAAAAATTAGCTGAGTGTGGTGGTGCGAGCCTGTAGTCCCAGCTACTTGGGAGGCTAAAGTGGGAGGATGGCTTGAGCCCAGGAGGTAGAGATTGCAGTGAGCTAAGATTGTGCCACTGGAGTCTAGCAAAGGCGACAGAGTGAGACCCTGTCTCAAAACAAAAACAAAACAAAACAAAACAAAAAACCATATAGCCTTATTTTTAAAAAATGTCTTCCCTGTCAATCATAAAATTTCATATTTAAAGAAACTGGAAAATAGAAAATCAAATATGCAAAGTACTCTTACTCAGAAATAATCATTAGTAACATTTTCCACACAGTTGAAATGAATATAGGTTTATCGTTTTATTTATCTAAGATTTACTAATAGTTCTTTCTCTTTTTTTCCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCCCACCACCACACCCAGCTAATTTATTTTTTATTTTTACTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGTCACCACGCCTGGCCAAACTAATAGTTCTTAACGTACACAAAATGAAATGTGGTTGATGACCTATTTTCATATTTAATAAAGCTTGCTTTGGGTTAAGAATGGTGAGTGTTACAAAAACCTTATAATGCAAGAAGCAATTACACAGATAAAAAACAACTGAAGTATTTCATCATATGACCCAGGGACTAAATAAAGATGGTAAAAATCATGACTCCTGAAGTCCATATCTAATCAATATCTCAGAGTTTTACAGCAGGACTTTAAGCAAAGCACAGTGCTGAGAAACAAACTGAGCAGGTGACAGGAGTCAGCAAACTCTTTTTGTCTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCCACCCACGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTTGCTGGGACTACAGGCAAACGCCACCACGCCCGGCTAATTTTGGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGTTGGTCTTGAACTCCTGACCTCATGATCTGCTTGCCTCTGCCTCCCAAAGTCCTGGGATTACAAGTGTGAGTCAACGCACCCGACCAGTGAACTCTTAAAGATCCAGACAGTGTTTTAGGTTTTGCAGGCCATTTGGTCTCTATCTCAGCTCTCAAATTGTAGCTTGAAAGCAGTCACAGACAGTGCATAAATGAATAGGCATGGCTGTGTTCCAATCAAACTTTATGATTTATACAGACACTCAGCCTACTCCTCAAACAGGAC	GGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACCATCCTAGCTAACACCGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGTACTCCAGCCTGGGCGACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAATTAACCTGCACATTGTACACATGTATCCTAAAACTTAAAGTATAATAAAAAAAAAAAGAATGGTGTTTCAAGGAAGCAAAGGAAACAAAATGGTGCTTCAGGACTATAAGACTAAGATTTGCTTTGAAGATGTTTTAAGAGTTGGAACTATTCATAAAATGCATTTTTGTGGATAATTACCAAAGTCTGTACTGTAAAGGACTTATGGAATCCACTGGAGCCCCATTTGTACTCTAGCATATTATTACTCTGAGCCCTATAAGGCATGTATGTTGTGTGTATATACATAAATACATATGTATATACCTATATGGTAAGCATTATTATTCTCATTTGAGCAGCAAGACTTTGATGCTCAGTAGGGCAATTTGTTTCAGGTGACAAGGCTTGTAAGTAACAGGAGGTGGAACTCAAATACAAATCTGCCCATTTGTCCACTGTACTCCATAATTAGGCAGGTAAACTCTAGGAAGATCACTAAGTGGCAAGATATAACAGATGGTCTGTGATTTACTGTGTATAAGAAATTGTACTAGGCAATTTAAACTCATTACCTCATTAGTTCTCATGATTCTAGGATATACTATTATCCCATTTCACAGATAGAGAAACCAAGATCTCGAAAGATAAGTAGTTTGTTCAAGGCAACATAGCCAAGTACGATAAAAGAGTGGGGATCTAAGATTCAGTAATTCTAAATCTGTCCATGTCTCTGATGGTCTCTTACAATTGTTACTATTTTCTTAAGAGAAGTCATCTGGATAGAATCTGAATACAAGGTAATTTTTCTTTTCTTGAGACAAAGTTTTCCTCTGTAGCCCAGGCTGAAGTACAGTAGCAGGATCTCGGCTCACTGCAACTGCCTCCCTGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTATGCACCAGCATGCCTGGCCAATTTTTGTATTTTTTAGTAGAGACGAGATTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGCGCCTGGCTAAAGGTGATTTTCCTTTGCTCTAAAGTGAGGGTCCAGGCAGCTGCCTCTGAAGCTTTAAGGGTCTACCGTCCTCTATGAGTCCCCAGGCTCGAGAAAGGCAAATGGGGATAAAACATTGTGAAGAACTAGTGACAAATCCCTAAGTGAAAGTGATCATTTAAAGAATAATGGTAATAACAACAGCCTTACTTTGTACCAGGCACCGTGACAGATACATTTCACATACTATTCTGAGCCCTACAAAGAAGGCATTATTATCCCCACTTTACAGAGTGAGAATCAAGCTCAGGAGAGTGTTCTGTTTAAGGCATGTAAGTAACAGGAGCCAGAATTCAAACACAAATCTGCCCGATGCCAAACCACCCCCTCTCCAGGGTCCTGACATAGGGAAAACGGCATGTAAGAAGGGAACTAAAATTTTGACTTTCTGCCATCCTGGGTTTTGTGTGATTGTTTCAATGTAGAAGGCAATATGGCCACATGACAGAAGTTCTGAAAGGCAGGAGGAAAGAACATATTTTGTCTTAATACAACCACCACTTTTTATTATTTTGATGTCTTTTAGGTTTTTTTCATACCTATCCCTCCTCCACTTTAATGGTACCCTATAGGAAGCTCTGATTTCATTGATAAAAGTCATAGGGCCAAAATATTTCAGTGTCTTACCGTTAACAAGGTCGTACAGCTCTGGCATTGTTTTTGCACTGACAAAATGCTGTGTTTTGAAGCCATTTTTCTTATCAAGTAGATAGAGTGGATGGAACCACTCTAAGAGTGAGTGGTATAGTCCATAGCGGATGTTCCTTAAACAGAAAAACAGAACAGCAACTGTCATTAAGCATAGAACAAATAATTTATTTTAAGGAAAATCAGTTCTAGCATTTTTTCATTTCAGTGGCACTCACTCATAAGAGCATATAGAGAGGAATGGGATCCAAAACCATTTCCTTAAATTATTCACTATTCACTTAAGCAAAATGAGGTTTACTGTGTTTTTGATTAAACACATAACTACCTTTTATACATAAATATCTTAACACCAAAATATTATTTAAACCATCTTTTATCTTTTAAGTCAATTATCCCAACAGAGTATAGTCCTGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGTCCATGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGTCTCCACAAAAACTGTAAAAATTAGCTGAGTGTGGTGGTGCGAGCCTGTAGTCCCAGCTACTTGGGAGGCTAAAGTGGGAGGATGGCTTGAGCCCAGGAGGTAGAGATTGCAGTGAGCTAAGATTGTGCCACTGGAGTCTAGCAAAGGCGACAGAGTGAGACCCTGTCTCAAAACAAAAACAAAACAAAACAAAACAAAAAACCATATAGCCTTATTTTTAAAAAATGTCTTCCCTGTCAATCATAAAATTTCATATTTAAAGAAACTGGAAAATAGAAAATCAAATATGCAAAGTACTCTTACTCAGAAATAATCATTAGTAACATTTTCCACACAGTTGAAATGAATATAGGTTTATCGTTTTATTTATCTAAGATTTACTAATAGTTCTTTCTCTTTTTTTCCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCCCACCACCACACCCAGCTAATTTATTTTTTATTTTTACTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGTCACCACGCCTGGCCAAACTAATAGTTCTTAACGTACACAAAATGAAATGTGGTTGATGACCTATTTTCATATTTAATAAAGCTTGCTTTGGGTTAAGAATGGTGAGTGTTACAAAAACCTTATAATGCAAGAAGCAATTACACAGATAAAAAACAACTGAAGTATTTCATCATATGACCCAGGGACTAAATAAAGATGGTAAAAATCATGACTCCTGAAGTCCATATCTAATCAATATCTCAGAGTTTTACAGCAGGACTTTAAGCAAAGCACAGTGCTGAGAAACAAACTGAGCAGGTGACAGGAGTCAGCAAACTCTTTTTGTCTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCCACCCACGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTTGCTGGGACTACAGGCAAACGCCACCACGCCCGGCTAATTTTGGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGTTGGTCTTGAACTCCTGACCTCATGATCTGCTTGCCTCTGCCTCCCAAAGTCCTGGGATTACAAGTGTGAGTCAACGCACCCGACCAGTGAACTCTTAAAGATCCAGACAGTGTTTTAGGTTTTGCAGGCCATTTGGTCTCTATCTCAGCTCTCAAATTGTAGCTTGAAAGCAGTCACAGACAGTGCATAAATGAATAGGCATGGCTGTGTTCCAATCAAACTTTATGATTTATACAGACACTCAGCCTACTCCTCAAACAGGACN	pathogenic	5,605
Regarding the variant found on chromosome 1 at position 23868279 in gene FUCA1 (alpha-L-fucosidase 1): is it benign or pathogenic? If pathogenic, identify the disease(s).	pathogenic; ['Fucosidosis']	GAGCCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCAACTGTACTCCAGCCTGGGCTACAGAGCAAAACTGTTTCAAAACAACAATAACAACAAAATAGAAAACTTTCTAGAAAACTAAGCTGTTTGGTTTACCAAGCCTACATAAATTGCCTCTCATTTATTATAGAGGTGACAAAAGACCCAATAACTGGGAGAAAAGGCAAGTGTTGAAATAACAACCAAATCACTCAATATTTAATTTGCTTTTATGGCACAAAAATAGGTAATGCACTTTATGGTTCAATCATTGGCCAGAGTAGGGAACTCCAGGATTTGAAGGGCCAGATAGTATTTTAGGCTCTGTGGGAGCACATTCCTCTCTGTAGTGTATTCTTCTTTAAAACATTTTACAACCCTTTAAAAATGTAAAAACCATTCTCACCTCATGGGCCTTAAAAAACTGGCAGAGGACCAATCCCTCTGGCCAGTTTGCAGACCCTGGTGCAGTGGAAACAACCTTGACGTCATGAGACCTGGAGTCTAGGACATTATATTCCTTCCTCTCTTTGGGCCAGTCATCTCATCCATGAAATAAAAGGCATGGAAAGAGGTTATCTCCCAGATTTTAATTTTTCTCACTTGTAAGTTATGGATCCCTAAGGCCCCTAGGAGACAAACACTTCCTCTGCTTAATCAAGTCTTATACTCCCATACATTTAATGGCAAACACTAAATGCCAGTTGTAACTTCTCTTTAGTACAAGTGAATTCAAAGTTCAAGAGAAACGAAAACCCGGAAGATGGCTGAGGAACCAAGGTAAGGATGGAAGACTGCTCTAAGCCAGGGGCTGGGGAAACCTCCCCGCCTCCATTTTTACTCTTCTCCAACCCACTTCTCTCCCAGCAGCCGAATGAATCTTTCTAGAAGCTGATAGTAACCACTCCCTGACTTAACATCTGTCAATACAGGGCTCTCAAGGCTCACTCCTTCAGGACAAGCCCCTGCCTTGACAACTTCATGGGTCGTGGTCTCCCCTTATCCCCACCCCAGCGCTCTCTACTCTGTTCTCTGAACCAGCCACCCCCAAGTTCCAACAGTTCTCAGAGAGAGTCAGACCCTTCCTGGACACTTCCTACGTAAAAGGGATTGAGAGGAGCAAACGAATGACTATCTGTACTGTTGCCCAAATACACTGCACACCAGAACTCCCCTCTCTTTCCCTCTTAGAGACATTAGGGCTCAAAGGGTTGTATCCTTATATAACCCCTTTCTACAACCATAGAAGAGGCTGCAGGGAGGCTGAAGTGACATGTCCAGGTTCACAGTTGAATTAGAACCAGGCTCCACACCACTGATTTGAAACCCTGGAGTCCTGATAGTGCTGTCAATCTGAAAGGGACATCAGGTATGGCCTAACTCAGCCCTCTCGGTGCACAGGTGCAGATACCCAGGGCTTCCCAGCCTGCCATCTCCCTGAACCTTCATTTATCAGTCCCCAGTCAAACGCACCTCCTCCTCCTCATCAGGTGTGCCAGGCTCACTCCTGTGGCCGCAGGAGGCCACACGCGGGCCCCGGGGTCATGGGGGCGACCGGCAGCTGCGCGCCCCAGCTGGCCGCCCAGCCCCACCTCCTGTTTGCCGCCCGAGCCGGGAAGGGGCGCCGCTCCCCGGGACCACACTCACTTGGCGCCCGCGGCCTGGAAGAGGTCGGCCCACTCCTCCGGGTGGAAGAAGCGCGCAGTGAACTGCGGTCCGAAGTCGGCGTAGCTGAAGCCGGGCGGGTAGTTGTCGCGCATGAAGCGCTGGTACTGCGGCCGCCCCTCGCCCTGCCAGTGCCACCAGAACCACTCGCTGCCCCAGGCGGGCACCGAGAACACGCCCCAGTGGATGAACACCCCGAACTTGGCTTCGTCGAACCAGGCCGGCAGCGGCCGAGAATCCAGGCTCGGCCAGTCTGGGGTGTAGCGGCGCGGAGGCTGGGCCCGACGCACCGACTCGGCCGCTCCGAGGAAGAGCAGCAGCAGCAACAGCGCGGGACCCGCCGGCCGCGACCTCATCCCCGGAGCCCGCATCGCTACCCCTCAGCGACGCGGCCCACTCTTAACGCGCAGGTGCCCGCGGGCGGCTCCGCCCACTCTGACTAACGATTGGCCCGGAAGGAAAAAGGGGTGGGACAACCTGGACAGGTTGGCCCGAGTCGCTTCCTCCTCGGGTCGGAGGAGCGCCCTCTGGTGCTCAAGAAGGGAAAGACGCAGGGAGGCGTTGACAGCGCTTCGCTGAAGGACGAATAAAAACCTTGAAAAGGGACTTAACTGCGAGGTTAAATCGTGGAGGTGAGCAAGGCCCAGTGTGTGCGGAGAACTCACATTTAAGAAGGAGTCCATTGAGCCGGACGCAGTGGCTCACGCCTGTAATCCTAACACTTTCGGAAGTCGAGGCGGGAGGATCGCTCTGAGCCCACAAGTTGGAGACTAGCCTGTCTCTATAAAAAATAAACAAAATGAGCCTGGCGTAGTGGTGCACGTCTGGAGTCCCAGCTACTCGAGAGGCTGAGGTGGGAGGTTCGGGATCGCTTGAGCCCGGGAAGTCTGGGCTGCAGTGAACCGAACCGTGATCACGCCTCTGGGAGTAGTCCATTTTGCCGCAGCAATCCTGCAGGGGTAGGCTGAAGTGAGATCACGAGTTTTATTTAGTGATCACTTGGGAGCCATAGGGGGCTTTTGAGTTGTCCTGTAGCACAAGGCTGGAGGAGGAGATAACAGACCGGAAGGGTATCTAACAGCCCTGACAGAAATAAGGAGGTAGAGGGATGATGGGAAGAAACGTTATGAAAGGAGAGGAAAGAGAAAACTGGGTACTGAAAGAGGGAGAGCGGGCAGGACCGTTTCATCTGTCTGGTATTTACTGAGCTTTCTTTGGGAATTCCGAGGCATTTCAAATAGCTTAGTTTGTACCGAGATACCGCCACTGCACTCCAGCCCCTGGGCGACAGAGCCAGACCAAGGAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAAGGAGGAAGTGGAGAGCCAAGAGGACCCAGGATTGCCTGGCAGGGAAGTTCCCCAGTTCCTCTGCAATTTGCACATGCTGCACATACTCAAACGGGAGGTGAGGCCATTAGCGAGGGAAATACGGAAGTCAGAAGTCTCTGAACAGACAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGGGTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGTTACAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCGGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGGAAGAAGAAGTCTCATGACTCCACGTAGCACACTCAGTTCCCACATGCCAGTGAGAGAATGGCAGCACATCAGAGTTGGGACTTTGAAGATCCTAGGCACCATCCTCTTCCCTACCCTTCCCATTGTACCGAGGAGGGAACTGAAGCCCAGAGAGGGCTGGGGGGCTGCCCAAGATCATGCAGCTAGTTTGAGTCAGAGGTGGGACTAGAATACGTGTCTCCAGGTGCAAAATCTATGCCTTTGTTCATGCTGCTTCTTTCTTGCACCTCATGAGAAGTCAGAGCCTATGTTGACAGAACCCAGCACTTCCTCACTCTGGCAGTGACAAGGAGAGAAAATGACTATTGCTGAATCACAGCTGTTTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTGAGATGCAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGCTGCAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTACGCCACCACGCCTGGCTAATTTTTGTATTTTTAATACAGATGGGGTTTCGCCGTGTTGGCCAGGCTGGTCTCGAAC	GAGCCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCAACTGTACTCCAGCCTGGGCTACAGAGCAAAACTGTTTCAAAACAACAATAACAACAAAATAGAAAACTTTCTAGAAAACTAAGCTGTTTGGTTTACCAAGCCTACATAAATTGCCTCTCATTTATTATAGAGGTGACAAAAGACCCAATAACTGGGAGAAAAGGCAAGTGTTGAAATAACAACCAAATCACTCAATATTTAATTTGCTTTTATGGCACAAAAATAGGTAATGCACTTTATGGTTCAATCATTGGCCAGAGTAGGGAACTCCAGGATTTGAAGGGCCAGATAGTATTTTAGGCTCTGTGGGAGCACATTCCTCTCTGTAGTGTATTCTTCTTTAAAACATTTTACAACCCTTTAAAAATGTAAAAACCATTCTCACCTCATGGGCCTTAAAAAACTGGCAGAGGACCAATCCCTCTGGCCAGTTTGCAGACCCTGGTGCAGTGGAAACAACCTTGACGTCATGAGACCTGGAGTCTAGGACATTATATTCCTTCCTCTCTTTGGGCCAGTCATCTCATCCATGAAATAAAAGGCATGGAAAGAGGTTATCTCCCAGATTTTAATTTTTCTCACTTGTAAGTTATGGATCCCTAAGGCCCCTAGGAGACAAACACTTCCTCTGCTTAATCAAGTCTTATACTCCCATACATTTAATGGCAAACACTAAATGCCAGTTGTAACTTCTCTTTAGTACAAGTGAATTCAAAGTTCAAGAGAAACGAAAACCCGGAAGATGGCTGAGGAACCAAGGTAAGGATGGAAGACTGCTCTAAGCCAGGGGCTGGGGAAACCTCCCCGCCTCCATTTTTACTCTTCTCCAACCCACTTCTCTCCCAGCAGCCGAATGAATCTTTCTAGAAGCTGATAGTAACCACTCCCTGACTTAACATCTGTCAATACAGGGCTCTCAAGGCTCACTCCTTCAGGACAAGCCCCTGCCTTGACAACTTCATGGGTCGTGGTCTCCCCTTATCCCCACCCCAGCGCTCTCTACTCTGTTCTCTGAACCAGCCACCCCCAAGTTCCAACAGTTCTCAGAGAGAGTCAGACCCTTCCTGGACACTTCCTACGTAAAAGGGATTGAGAGGAGCAAACGAATGACTATCTGTACTGTTGCCCAAATACACTGCACACCAGAACTCCCCTCTCTTTCCCTCTTAGAGACATTAGGGCTCAAAGGGTTGTATCCTTATATAACCCCTTTCTACAACCATAGAAGAGGCTGCAGGGAGGCTGAAGTGACATGTCCAGGTTCACAGTTGAATTAGAACCAGGCTCCACACCACTGATTTGAAACCCTGGAGTCCTGATAGTGCTGTCAATCTGAAAGGGACATCAGGTATGGCCTAACTCAGCCCTCTCGGTGCACAGGTGCAGATACCCAGGGCTTCCCAGCCTGCCATCTCCCTGAACCTTCATTTATCAGTCCCCAGTCAAACGCACCTCCTCCTCCTCATCAGGTGTGCCAGGCTCACTCCTGTGGCCGCAGGAGGCCACACGCGGGCCCCGGGGTCATGGGGGCGACCGGCAGCTGCGCGCCCCAGCTGGCCGCCCAGCCCCACCTCCTGTTTGCCGCCCGAGCCGGGAAGGGGCGCCGCTCCCCGGGACCACACTCACTTGGCGCCCGCGGCCTGGAAGAGGTCGGCCCACTCCTCCGGGTGGAAGAAGCGCGCAGTGAACTGCGGTCCGAAGTCGGCGTAGCTGAAGCCGGGCGGGTAGTTGTCGCGCATGAAGCGCTGGTACTGCGGCCGCCCCTCGCCCTGCCAGTGCCACCAGAACCACTCGCTGCCCCAGGCGGGCACCGAGAACACGCCCCAGTGGATGAACACCCCGAACTTGGCTTCGTCGAACCAGGCCGGCAGCGGCCGAGAATCCAGGCTCGGCCAGTCTGGGGTGTAGCGGCGCGGAGGCTGGGCCCGACGCACCGACTCGGCCGCTCCGAGGAAGAGCAGCAGCAGCAACAGCGCGGGACCCGCCGGCCGCGACCTCATCCCCGGAGCCGCATCGCTACCCCTCAGCGACGCGGCCCACTCTTAACGCGCAGGTGCCCGCGGGCGGCTCCGCCCACTCTGACTAACGATTGGCCCGGAAGGAAAAAGGGGTGGGACAACCTGGACAGGTTGGCCCGAGTCGCTTCCTCCTCGGGTCGGAGGAGCGCCCTCTGGTGCTCAAGAAGGGAAAGACGCAGGGAGGCGTTGACAGCGCTTCGCTGAAGGACGAATAAAAACCTTGAAAAGGGACTTAACTGCGAGGTTAAATCGTGGAGGTGAGCAAGGCCCAGTGTGTGCGGAGAACTCACATTTAAGAAGGAGTCCATTGAGCCGGACGCAGTGGCTCACGCCTGTAATCCTAACACTTTCGGAAGTCGAGGCGGGAGGATCGCTCTGAGCCCACAAGTTGGAGACTAGCCTGTCTCTATAAAAAATAAACAAAATGAGCCTGGCGTAGTGGTGCACGTCTGGAGTCCCAGCTACTCGAGAGGCTGAGGTGGGAGGTTCGGGATCGCTTGAGCCCGGGAAGTCTGGGCTGCAGTGAACCGAACCGTGATCACGCCTCTGGGAGTAGTCCATTTTGCCGCAGCAATCCTGCAGGGGTAGGCTGAAGTGAGATCACGAGTTTTATTTAGTGATCACTTGGGAGCCATAGGGGGCTTTTGAGTTGTCCTGTAGCACAAGGCTGGAGGAGGAGATAACAGACCGGAAGGGTATCTAACAGCCCTGACAGAAATAAGGAGGTAGAGGGATGATGGGAAGAAACGTTATGAAAGGAGAGGAAAGAGAAAACTGGGTACTGAAAGAGGGAGAGCGGGCAGGACCGTTTCATCTGTCTGGTATTTACTGAGCTTTCTTTGGGAATTCCGAGGCATTTCAAATAGCTTAGTTTGTACCGAGATACCGCCACTGCACTCCAGCCCCTGGGCGACAGAGCCAGACCAAGGAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAAGGAGGAAGTGGAGAGCCAAGAGGACCCAGGATTGCCTGGCAGGGAAGTTCCCCAGTTCCTCTGCAATTTGCACATGCTGCACATACTCAAACGGGAGGTGAGGCCATTAGCGAGGGAAATACGGAAGTCAGAAGTCTCTGAACAGACAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGGGTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGTTACAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCGGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGGAAGAAGAAGTCTCATGACTCCACGTAGCACACTCAGTTCCCACATGCCAGTGAGAGAATGGCAGCACATCAGAGTTGGGACTTTGAAGATCCTAGGCACCATCCTCTTCCCTACCCTTCCCATTGTACCGAGGAGGGAACTGAAGCCCAGAGAGGGCTGGGGGGCTGCCCAAGATCATGCAGCTAGTTTGAGTCAGAGGTGGGACTAGAATACGTGTCTCCAGGTGCAAAATCTATGCCTTTGTTCATGCTGCTTCTTTCTTGCACCTCATGAGAAGTCAGAGCCTATGTTGACAGAACCCAGCACTTCCTCACTCTGGCAGTGACAAGGAGAGAAAATGACTATTGCTGAATCACAGCTGTTTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTGAGATGCAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGCTGCAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTACGCCACCACGCCTGGCTAATTTTTGTATTTTTAATACAGATGGGGTTTCGCCGTGTTGGCCAGGCTGGTCTCGAACN	pathogenic	5,619
A genetic variant at chromosome 1, position 25543762, affecting gene LDLRAP1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).	pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_4']	AGTCCTTAAGGACAGCCCTGTGAAATAGATATAGTTGTCCCTTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCAGCTGGGGACAGCACAGCACTATCTTTCTCCCGACACAGAGAGGACTGCTGGCTTCTGAGCCAGGAGTAATTACAGAGGTTGAAGTTGGCCTTGCCTGAGGCACCCCCTTCTAAAAGAAGCCAGGCTGTGGCTTGGATGTGTGTGTCCTCCCTCTGGCTCCTTTTGGCACAGTTTGAAAGGAAGGCATGGCATCCTAGAGAGTTAGAACAAATCCTTCCAATCCTGGAGTTAGAACATCTGTGCCTGAGCAATTCTGGGGTTCAGACTGCCCTCCGAATGCTCCTAGGAAGCAGCTTGGGGTCAGGGTCAAGGTCATGCAGATTCTTGACCCTGGCAGGTTGGAAGGATCACTAGAGATAGCATTGACTCTCATTCACAGATAAACAAGACTCAGAGAGGGGAAGTACTTGCCTGAGGTCACACAGCAAGTCAGTGTCAGGGGCACGTTCCAGATCATACCATCTGTGAGGCTACCTGGGAAGTTGCGGGGGCATGGGGTGGCCCAGCATGCTCAGGTGGTGCCAGGGAGCAGCCTGGGAGCTACGAGGATGAGTAAAGTGCCTGGCTGGACTTGCTAAAGGCAAATTTTTATATACCGACCCTGCGCCTAACAAGGGTCTATACTGCAAGCTTGTCCAACCTGTGGCCCACTGGCCATGTGAGGTCCAGGACGGCTTTGAATGGAGCCCAACACAAATTGGTAAAGGTTCTTAAAACATTATGAGATTTTTTTGGGCAGGGTGTGGTGGCTCACAGCCATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACTCCATCTCTATTAATAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATAGCTTGAACCCGGGAGGTAGAGGTTGCAGTGACCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGTGAAACTCTGTCTCAGGGGAAAAAAAACAATACAGAAAAACAAAAAACATGAGTGTGTGTGTATATATATATATTTCAGCTCATCAGCTGTCGTTAGTGTTAGTGTATTTCATGTGTGGCCCAAGACACTTCTTCTTCCAATGTGGCCTAAGGAAGCCAAAAGTTTGGATATCCCTGGCTTACAGCCTCCACTATTTCCTAAGTCTCCCACTGCCCTGGACATCGCATTGCTTTTGTCCCTGAACAAGATCTTTCACCACTGGAGGAGCCCTCAGTCTCCCCATCTGTAAAATGGTCACTGGAAATCCTAGGCCGCTGCTCTCAGGCCCTCAGGCCCCTACGGGGTGGGGATTGGGGAAAAGGAGGAAAGCGGGGGCGTCTAGGGCTTGCGATTTGCTATCTTCTGGCGCCTTCGGGCGGCCTCGGAAACTCTTGGTGCCTGGACCTGGAGCCTGGACAGGGACCGGGCGGGGCGAGACCGGCCGTCGGGGGCGCGGCCCGTCTGGGGGCGGGGCCTGTCCTCTCTCGCCCCGCCCCGTCGGACGCCGCGGCGGAGCTGGCGCTGGGAGGGGAGGAGCGCGCAGCCCGCGCGCCGCAGGGCCGGGCGGAAAGTTTTTCCTGACGGAGTTTTGGCTGCGGCAGCGGCGGCGGCGGCCGGAGCGGGCCATGGACGCGCTCAAGTCGGCGGGGCGGGCGCTGATCCGGAGCCCCAGCTTGGCCAAGCAGAGCTGGGGGGGCGGTGGCCGGCACCGCAGTGAGTGTGCGCGCGTCAGCCGGGCCGGGCCGGGATCGGGCAGAGGCGCGCGGGGCCTCCGCGGGCGCCCGGAGTGCGGCCAAGTTGGGCAGAGGCGGGGCCTCACCGGCGCTCCGGTCCCGGCGTGGCCCTTTCCCGGCCCTGCGGGGCAGGGGGTCGGCCGGGGTCAAGTTGTGCACCTACTCGCCGGCCGCTCGATGCCGCTGCGAGGAGGGGCAGCGCTGAGGAAGGAGCCCGAGCTCGGGGTCCTCAGGTGCAGCCGGCATGGGGTGGGGTGCAGGTTGGGAGAAGAGGCCCCCGCCACCCGCGGCACCTCCCGCCCTGCTGTCCTGGCCAGCTAGGGGGAGGCAGGCGCTCGTCGTCGGTGCCTAGGGGAGGAGGAGAGGGCGCAGGGGCTTGGGAAGACGCCCCCGTCCCGCACCCCTGCGCCCCAGCCAGCAGCTGCGGCGGTCAGGAGCCCACTGGCCCGTTCTCCCGCCCCCTGCCCGACCCACCGGGCCAACTTTTGACTCCGGGTGCCCAGACACCCATCCAGGTGTGAGCCCGGGGTCGCAGGTACGTACTTGAAATTGGGAACGAGGCCCCGCCTGGGGTGCCTCGGGAGAGCCCCACATCAGGCGATCTAGACCCTTACGTCCCTTCCTCTAGCCGGGTCCAGGTGGCAAGCCTGGCGTCCCGACTATTTTTGAAACCTGTTTTCTCTCGCACCTTTCCCCTCGGGCTTCCAGAGTCCCTTGGGTGCCCAGGCAAACGACAGACTCGCCGCCACCTCTCCCTGGGGCGTCTGGGAGGCTGGGAGGGGCCTCCCCCCCTTTCTCTCCCCCAGTCTCTGATTACGCTCAGGGAACTTGTCACCTGGCACCTTCCCCTGAAGCCAGAAGACCCAGCCTAGCGCAGGTCTCGTTGTTTGGGAGGGAGAAGAGAGTGGCTTGCCTGGGGTCACACACACCTTCCTGCTGGTTTTGGAGCCAGAGCCCAGGACTGCTGCACACTCCCACCTCCCTGCCACCTACTTCGGGCCACAGCTTCTCCCCTCATCAGGAAACAACTGACAGTACAGCACCCCCTCATCCCATCCCCTCTTGGCCTTACAGGGCTCTGCCAGGGGAGCCCGAGCTCCCTGGTCCAAGGAGTGCCAGCGTGTCTGGGCCTAGAGGGCCCGCCTCCCTCCTCCTCTGGCCCCACTCTGTTGTTCAGCTGTGGCCGCCTCCCAGCTGAGACTGGCATTGGCATTGGGAATGTGGGGTGGTGCCTGCTGGTGGGGGGTGGGGTCAGAGACCCATTAGGGCTGGGCCACTAGGCCAGGGGATGTACCGTTTATCACACTGATTGCATCCCAAAATAGACCCTTTAAAAACTGGCAAGATTTGACCAGGACTTCTGAGATGGCCATCTGTTCCAGTGGGAGAATCCTGCGGGTTTTCTCCAGGAATGAGGGAGGGAGGGTGGTGGGGCAGCCCCCAGGGAAGTGGTTTTGAAGGAAGGGGGGCTGGCAAGGGAAGGGAGGCTAGAAAGAAATATCTCTGAATCTGGGGACGTGGAAGAGGTAGCCGCTTTGGATGTGGAAGAGAATTTCTCTTGCCATCTTCAATCTTGAGCAAGTCACTTGTCCTTTCTGATCCTCGGTTTCCTCATCTGCAACATGGGGATAAAAACTCTTACCTGGCAGGAGTATCAAGGAGATTATTGGTAATAATGCTCCCTCCTAACTGGTGGCTTTCTTCTCCCCTGCTCCTCTTCCCCCTGCCTATCCTTGGGACGCTGCCAGCATGATTAGTACTGTGGTGAGATGGGTTTTGGGGGCCCCGAGCCTGTCTGCACCTTTGGAGGAAAGGAGAGGAGCACCTCTCCCCCTCCTCCAGGCCCTGGTAAGCCCAAAGTGCTGTCCTGGAGCCTCTGGATCTGAAGGAGGGCAGGCCGAGCCCCACCTGTCCCTCGTGATGAAGTCTCAATTTCCTCACCTGTAAATTGCAAATAACAGTAGTACCTGCCTCCAGCTGTTTGTGGGGATCAAGTGGAATTG	AGTCCTTAAGGACAGCCCTGTGAAATAGATATAGTTGTCCCTTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCAGCTGGGGACAGCACAGCACTATCTTTCTCCCGACACAGAGAGGACTGCTGGCTTCTGAGCCAGGAGTAATTACAGAGGTTGAAGTTGGCCTTGCCTGAGGCACCCCCTTCTAAAAGAAGCCAGGCTGTGGCTTGGATGTGTGTGTCCTCCCTCTGGCTCCTTTTGGCACAGTTTGAAAGGAAGGCATGGCATCCTAGAGAGTTAGAACAAATCCTTCCAATCCTGGAGTTAGAACATCTGTGCCTGAGCAATTCTGGGGTTCAGACTGCCCTCCGAATGCTCCTAGGAAGCAGCTTGGGGTCAGGGTCAAGGTCATGCAGATTCTTGACCCTGGCAGGTTGGAAGGATCACTAGAGATAGCATTGACTCTCATTCACAGATAAACAAGACTCAGAGAGGGGAAGTACTTGCCTGAGGTCACACAGCAAGTCAGTGTCAGGGGCACGTTCCAGATCATACCATCTGTGAGGCTACCTGGGAAGTTGCGGGGGCATGGGGTGGCCCAGCATGCTCAGGTGGTGCCAGGGAGCAGCCTGGGAGCTACGAGGATGAGTAAAGTGCCTGGCTGGACTTGCTAAAGGCAAATTTTTATATACCGACCCTGCGCCTAACAAGGGTCTATACTGCAAGCTTGTCCAACCTGTGGCCCACTGGCCATGTGAGGTCCAGGACGGCTTTGAATGGAGCCCAACACAAATTGGTAAAGGTTCTTAAAACATTATGAGATTTTTTTGGGCAGGGTGTGGTGGCTCACAGCCATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACTCCATCTCTATTAATAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATAGCTTGAACCCGGGAGGTAGAGGTTGCAGTGACCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGTGAAACTCTGTCTCAGGGGAAAAAAAACAATACAGAAAAACAAAAAACATGAGTGTGTGTGTATATATATATATTTCAGCTCATCAGCTGTCGTTAGTGTTAGTGTATTTCATGTGTGGCCCAAGACACTTCTTCTTCCAATGTGGCCTAAGGAAGCCAAAAGTTTGGATATCCCTGGCTTACAGCCTCCACTATTTCCTAAGTCTCCCACTGCCCTGGACATCGCATTGCTTTTGTCCCTGAACAAGATCTTTCACCACTGGAGGAGCCCTCAGTCTCCCCATCTGTAAAATGGTCACTGGAAATCCTAGGCCGCTGCTCTCAGGCCCTCAGGCCCCTACGGGGTGGGGATTGGGGAAAAGGAGGAAAGCGGGGGCGTCTAGGGCTTGCGATTTGCTATCTTCTGGCGCCTTCGGGCGGCCTCGGAAACTCTTGGTGCCTGGACCTGGAGCCTGGACAGGGACCGGGCGGGGCGAGACCGGCCGTCGGGGGCGCGGCCCGTCTGGGGGCGGGGCCTGTCCTCTCTCGCCCCGCCCCGTCGGACGCCGCGGCGGAGCTGGCGCTGGGAGGGGAGGAGCGCGCAGCCCGCGCGCCGCAGGGCCGGGCGGAAAGTTTTTCCTGACGGAGTTTTGGCTGCGGCAGCGGCGGCGGCGGCCGGAGCGGGCCATGGACGCGCTCAAGTCGGCGGGGCGGGCGCTGATCCGGAGCCCCAGCTTGGCCAAGCAGAGCTGGGGGGGGCGGTGGCCGGCACCGCAGTGAGTGTGCGCGCGTCAGCCGGGCCGGGCCGGGATCGGGCAGAGGCGCGCGGGGCCTCCGCGGGCGCCCGGAGTGCGGCCAAGTTGGGCAGAGGCGGGGCCTCACCGGCGCTCCGGTCCCGGCGTGGCCCTTTCCCGGCCCTGCGGGGCAGGGGGTCGGCCGGGGTCAAGTTGTGCACCTACTCGCCGGCCGCTCGATGCCGCTGCGAGGAGGGGCAGCGCTGAGGAAGGAGCCCGAGCTCGGGGTCCTCAGGTGCAGCCGGCATGGGGTGGGGTGCAGGTTGGGAGAAGAGGCCCCCGCCACCCGCGGCACCTCCCGCCCTGCTGTCCTGGCCAGCTAGGGGGAGGCAGGCGCTCGTCGTCGGTGCCTAGGGGAGGAGGAGAGGGCGCAGGGGCTTGGGAAGACGCCCCCGTCCCGCACCCCTGCGCCCCAGCCAGCAGCTGCGGCGGTCAGGAGCCCACTGGCCCGTTCTCCCGCCCCCTGCCCGACCCACCGGGCCAACTTTTGACTCCGGGTGCCCAGACACCCATCCAGGTGTGAGCCCGGGGTCGCAGGTACGTACTTGAAATTGGGAACGAGGCCCCGCCTGGGGTGCCTCGGGAGAGCCCCACATCAGGCGATCTAGACCCTTACGTCCCTTCCTCTAGCCGGGTCCAGGTGGCAAGCCTGGCGTCCCGACTATTTTTGAAACCTGTTTTCTCTCGCACCTTTCCCCTCGGGCTTCCAGAGTCCCTTGGGTGCCCAGGCAAACGACAGACTCGCCGCCACCTCTCCCTGGGGCGTCTGGGAGGCTGGGAGGGGCCTCCCCCCCTTTCTCTCCCCCAGTCTCTGATTACGCTCAGGGAACTTGTCACCTGGCACCTTCCCCTGAAGCCAGAAGACCCAGCCTAGCGCAGGTCTCGTTGTTTGGGAGGGAGAAGAGAGTGGCTTGCCTGGGGTCACACACACCTTCCTGCTGGTTTTGGAGCCAGAGCCCAGGACTGCTGCACACTCCCACCTCCCTGCCACCTACTTCGGGCCACAGCTTCTCCCCTCATCAGGAAACAACTGACAGTACAGCACCCCCTCATCCCATCCCCTCTTGGCCTTACAGGGCTCTGCCAGGGGAGCCCGAGCTCCCTGGTCCAAGGAGTGCCAGCGTGTCTGGGCCTAGAGGGCCCGCCTCCCTCCTCCTCTGGCCCCACTCTGTTGTTCAGCTGTGGCCGCCTCCCAGCTGAGACTGGCATTGGCATTGGGAATGTGGGGTGGTGCCTGCTGGTGGGGGGTGGGGTCAGAGACCCATTAGGGCTGGGCCACTAGGCCAGGGGATGTACCGTTTATCACACTGATTGCATCCCAAAATAGACCCTTTAAAAACTGGCAAGATTTGACCAGGACTTCTGAGATGGCCATCTGTTCCAGTGGGAGAATCCTGCGGGTTTTCTCCAGGAATGAGGGAGGGAGGGTGGTGGGGCAGCCCCCAGGGAAGTGGTTTTGAAGGAAGGGGGGCTGGCAAGGGAAGGGAGGCTAGAAAGAAATATCTCTGAATCTGGGGACGTGGAAGAGGTAGCCGCTTTGGATGTGGAAGAGAATTTCTCTTGCCATCTTCAATCTTGAGCAAGTCACTTGTCCTTTCTGATCCTCGGTTTCCTCATCTGCAACATGGGGATAAAAACTCTTACCTGGCAGGAGTATCAAGGAGATTATTGGTAATAATGCTCCCTCCTAACTGGTGGCTTTCTTCTCCCCTGCTCCTCTTCCCCCTGCCTATCCTTGGGACGCTGCCAGCATGATTAGTACTGTGGTGAGATGGGTTTTGGGGGCCCCGAGCCTGTCTGCACCTTTGGAGGAAAGGAGAGGAGCACCTCTCCCCCTCCTCCAGGCCCTGGTAAGCCCAAAGTGCTGTCCTGGAGCCTCTGGATCTGAAGGAGGGCAGGCCGAGCCCCACCTGTCCCTCGTGATGAAGTCTCAATTTCCTCACCTGTAAATTGCAAATAACAGTAGTACCTGCCTCCAGCTGTTTGTGGGGATCAAGTGGAATT	pathogenic	5,687
Is the genetic mutation found on chromosome 1 at position 25543762, within the gene LDLRAP1, considered benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_4']	AGTCCTTAAGGACAGCCCTGTGAAATAGATATAGTTGTCCCTTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCAGCTGGGGACAGCACAGCACTATCTTTCTCCCGACACAGAGAGGACTGCTGGCTTCTGAGCCAGGAGTAATTACAGAGGTTGAAGTTGGCCTTGCCTGAGGCACCCCCTTCTAAAAGAAGCCAGGCTGTGGCTTGGATGTGTGTGTCCTCCCTCTGGCTCCTTTTGGCACAGTTTGAAAGGAAGGCATGGCATCCTAGAGAGTTAGAACAAATCCTTCCAATCCTGGAGTTAGAACATCTGTGCCTGAGCAATTCTGGGGTTCAGACTGCCCTCCGAATGCTCCTAGGAAGCAGCTTGGGGTCAGGGTCAAGGTCATGCAGATTCTTGACCCTGGCAGGTTGGAAGGATCACTAGAGATAGCATTGACTCTCATTCACAGATAAACAAGACTCAGAGAGGGGAAGTACTTGCCTGAGGTCACACAGCAAGTCAGTGTCAGGGGCACGTTCCAGATCATACCATCTGTGAGGCTACCTGGGAAGTTGCGGGGGCATGGGGTGGCCCAGCATGCTCAGGTGGTGCCAGGGAGCAGCCTGGGAGCTACGAGGATGAGTAAAGTGCCTGGCTGGACTTGCTAAAGGCAAATTTTTATATACCGACCCTGCGCCTAACAAGGGTCTATACTGCAAGCTTGTCCAACCTGTGGCCCACTGGCCATGTGAGGTCCAGGACGGCTTTGAATGGAGCCCAACACAAATTGGTAAAGGTTCTTAAAACATTATGAGATTTTTTTGGGCAGGGTGTGGTGGCTCACAGCCATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACTCCATCTCTATTAATAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATAGCTTGAACCCGGGAGGTAGAGGTTGCAGTGACCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGTGAAACTCTGTCTCAGGGGAAAAAAAACAATACAGAAAAACAAAAAACATGAGTGTGTGTGTATATATATATATTTCAGCTCATCAGCTGTCGTTAGTGTTAGTGTATTTCATGTGTGGCCCAAGACACTTCTTCTTCCAATGTGGCCTAAGGAAGCCAAAAGTTTGGATATCCCTGGCTTACAGCCTCCACTATTTCCTAAGTCTCCCACTGCCCTGGACATCGCATTGCTTTTGTCCCTGAACAAGATCTTTCACCACTGGAGGAGCCCTCAGTCTCCCCATCTGTAAAATGGTCACTGGAAATCCTAGGCCGCTGCTCTCAGGCCCTCAGGCCCCTACGGGGTGGGGATTGGGGAAAAGGAGGAAAGCGGGGGCGTCTAGGGCTTGCGATTTGCTATCTTCTGGCGCCTTCGGGCGGCCTCGGAAACTCTTGGTGCCTGGACCTGGAGCCTGGACAGGGACCGGGCGGGGCGAGACCGGCCGTCGGGGGCGCGGCCCGTCTGGGGGCGGGGCCTGTCCTCTCTCGCCCCGCCCCGTCGGACGCCGCGGCGGAGCTGGCGCTGGGAGGGGAGGAGCGCGCAGCCCGCGCGCCGCAGGGCCGGGCGGAAAGTTTTTCCTGACGGAGTTTTGGCTGCGGCAGCGGCGGCGGCGGCCGGAGCGGGCCATGGACGCGCTCAAGTCGGCGGGGCGGGCGCTGATCCGGAGCCCCAGCTTGGCCAAGCAGAGCTGGGGGGGCGGTGGCCGGCACCGCAGTGAGTGTGCGCGCGTCAGCCGGGCCGGGCCGGGATCGGGCAGAGGCGCGCGGGGCCTCCGCGGGCGCCCGGAGTGCGGCCAAGTTGGGCAGAGGCGGGGCCTCACCGGCGCTCCGGTCCCGGCGTGGCCCTTTCCCGGCCCTGCGGGGCAGGGGGTCGGCCGGGGTCAAGTTGTGCACCTACTCGCCGGCCGCTCGATGCCGCTGCGAGGAGGGGCAGCGCTGAGGAAGGAGCCCGAGCTCGGGGTCCTCAGGTGCAGCCGGCATGGGGTGGGGTGCAGGTTGGGAGAAGAGGCCCCCGCCACCCGCGGCACCTCCCGCCCTGCTGTCCTGGCCAGCTAGGGGGAGGCAGGCGCTCGTCGTCGGTGCCTAGGGGAGGAGGAGAGGGCGCAGGGGCTTGGGAAGACGCCCCCGTCCCGCACCCCTGCGCCCCAGCCAGCAGCTGCGGCGGTCAGGAGCCCACTGGCCCGTTCTCCCGCCCCCTGCCCGACCCACCGGGCCAACTTTTGACTCCGGGTGCCCAGACACCCATCCAGGTGTGAGCCCGGGGTCGCAGGTACGTACTTGAAATTGGGAACGAGGCCCCGCCTGGGGTGCCTCGGGAGAGCCCCACATCAGGCGATCTAGACCCTTACGTCCCTTCCTCTAGCCGGGTCCAGGTGGCAAGCCTGGCGTCCCGACTATTTTTGAAACCTGTTTTCTCTCGCACCTTTCCCCTCGGGCTTCCAGAGTCCCTTGGGTGCCCAGGCAAACGACAGACTCGCCGCCACCTCTCCCTGGGGCGTCTGGGAGGCTGGGAGGGGCCTCCCCCCCTTTCTCTCCCCCAGTCTCTGATTACGCTCAGGGAACTTGTCACCTGGCACCTTCCCCTGAAGCCAGAAGACCCAGCCTAGCGCAGGTCTCGTTGTTTGGGAGGGAGAAGAGAGTGGCTTGCCTGGGGTCACACACACCTTCCTGCTGGTTTTGGAGCCAGAGCCCAGGACTGCTGCACACTCCCACCTCCCTGCCACCTACTTCGGGCCACAGCTTCTCCCCTCATCAGGAAACAACTGACAGTACAGCACCCCCTCATCCCATCCCCTCTTGGCCTTACAGGGCTCTGCCAGGGGAGCCCGAGCTCCCTGGTCCAAGGAGTGCCAGCGTGTCTGGGCCTAGAGGGCCCGCCTCCCTCCTCCTCTGGCCCCACTCTGTTGTTCAGCTGTGGCCGCCTCCCAGCTGAGACTGGCATTGGCATTGGGAATGTGGGGTGGTGCCTGCTGGTGGGGGGTGGGGTCAGAGACCCATTAGGGCTGGGCCACTAGGCCAGGGGATGTACCGTTTATCACACTGATTGCATCCCAAAATAGACCCTTTAAAAACTGGCAAGATTTGACCAGGACTTCTGAGATGGCCATCTGTTCCAGTGGGAGAATCCTGCGGGTTTTCTCCAGGAATGAGGGAGGGAGGGTGGTGGGGCAGCCCCCAGGGAAGTGGTTTTGAAGGAAGGGGGGCTGGCAAGGGAAGGGAGGCTAGAAAGAAATATCTCTGAATCTGGGGACGTGGAAGAGGTAGCCGCTTTGGATGTGGAAGAGAATTTCTCTTGCCATCTTCAATCTTGAGCAAGTCACTTGTCCTTTCTGATCCTCGGTTTCCTCATCTGCAACATGGGGATAAAAACTCTTACCTGGCAGGAGTATCAAGGAGATTATTGGTAATAATGCTCCCTCCTAACTGGTGGCTTTCTTCTCCCCTGCTCCTCTTCCCCCTGCCTATCCTTGGGACGCTGCCAGCATGATTAGTACTGTGGTGAGATGGGTTTTGGGGGCCCCGAGCCTGTCTGCACCTTTGGAGGAAAGGAGAGGAGCACCTCTCCCCCTCCTCCAGGCCCTGGTAAGCCCAAAGTGCTGTCCTGGAGCCTCTGGATCTGAAGGAGGGCAGGCCGAGCCCCACCTGTCCCTCGTGATGAAGTCTCAATTTCCTCACCTGTAAATTGCAAATAACAGTAGTACCTGCCTCCAGCTGTTTGTGGGGATCAAGTGGAATTG	AGTCCTTAAGGACAGCCCTGTGAAATAGATATAGTTGTCCCTTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCAGCTGGGGACAGCACAGCACTATCTTTCTCCCGACACAGAGAGGACTGCTGGCTTCTGAGCCAGGAGTAATTACAGAGGTTGAAGTTGGCCTTGCCTGAGGCACCCCCTTCTAAAAGAAGCCAGGCTGTGGCTTGGATGTGTGTGTCCTCCCTCTGGCTCCTTTTGGCACAGTTTGAAAGGAAGGCATGGCATCCTAGAGAGTTAGAACAAATCCTTCCAATCCTGGAGTTAGAACATCTGTGCCTGAGCAATTCTGGGGTTCAGACTGCCCTCCGAATGCTCCTAGGAAGCAGCTTGGGGTCAGGGTCAAGGTCATGCAGATTCTTGACCCTGGCAGGTTGGAAGGATCACTAGAGATAGCATTGACTCTCATTCACAGATAAACAAGACTCAGAGAGGGGAAGTACTTGCCTGAGGTCACACAGCAAGTCAGTGTCAGGGGCACGTTCCAGATCATACCATCTGTGAGGCTACCTGGGAAGTTGCGGGGGCATGGGGTGGCCCAGCATGCTCAGGTGGTGCCAGGGAGCAGCCTGGGAGCTACGAGGATGAGTAAAGTGCCTGGCTGGACTTGCTAAAGGCAAATTTTTATATACCGACCCTGCGCCTAACAAGGGTCTATACTGCAAGCTTGTCCAACCTGTGGCCCACTGGCCATGTGAGGTCCAGGACGGCTTTGAATGGAGCCCAACACAAATTGGTAAAGGTTCTTAAAACATTATGAGATTTTTTTGGGCAGGGTGTGGTGGCTCACAGCCATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACTCCATCTCTATTAATAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATAGCTTGAACCCGGGAGGTAGAGGTTGCAGTGACCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGTGAAACTCTGTCTCAGGGGAAAAAAAACAATACAGAAAAACAAAAAACATGAGTGTGTGTGTATATATATATATTTCAGCTCATCAGCTGTCGTTAGTGTTAGTGTATTTCATGTGTGGCCCAAGACACTTCTTCTTCCAATGTGGCCTAAGGAAGCCAAAAGTTTGGATATCCCTGGCTTACAGCCTCCACTATTTCCTAAGTCTCCCACTGCCCTGGACATCGCATTGCTTTTGTCCCTGAACAAGATCTTTCACCACTGGAGGAGCCCTCAGTCTCCCCATCTGTAAAATGGTCACTGGAAATCCTAGGCCGCTGCTCTCAGGCCCTCAGGCCCCTACGGGGTGGGGATTGGGGAAAAGGAGGAAAGCGGGGGCGTCTAGGGCTTGCGATTTGCTATCTTCTGGCGCCTTCGGGCGGCCTCGGAAACTCTTGGTGCCTGGACCTGGAGCCTGGACAGGGACCGGGCGGGGCGAGACCGGCCGTCGGGGGCGCGGCCCGTCTGGGGGCGGGGCCTGTCCTCTCTCGCCCCGCCCCGTCGGACGCCGCGGCGGAGCTGGCGCTGGGAGGGGAGGAGCGCGCAGCCCGCGCGCCGCAGGGCCGGGCGGAAAGTTTTTCCTGACGGAGTTTTGGCTGCGGCAGCGGCGGCGGCGGCCGGAGCGGGCCATGGACGCGCTCAAGTCGGCGGGGCGGGCGCTGATCCGGAGCCCCAGCTTGGCCAAGCAGAGCTGGGGGGCGGTGGCCGGCACCGCAGTGAGTGTGCGCGCGTCAGCCGGGCCGGGCCGGGATCGGGCAGAGGCGCGCGGGGCCTCCGCGGGCGCCCGGAGTGCGGCCAAGTTGGGCAGAGGCGGGGCCTCACCGGCGCTCCGGTCCCGGCGTGGCCCTTTCCCGGCCCTGCGGGGCAGGGGGTCGGCCGGGGTCAAGTTGTGCACCTACTCGCCGGCCGCTCGATGCCGCTGCGAGGAGGGGCAGCGCTGAGGAAGGAGCCCGAGCTCGGGGTCCTCAGGTGCAGCCGGCATGGGGTGGGGTGCAGGTTGGGAGAAGAGGCCCCCGCCACCCGCGGCACCTCCCGCCCTGCTGTCCTGGCCAGCTAGGGGGAGGCAGGCGCTCGTCGTCGGTGCCTAGGGGAGGAGGAGAGGGCGCAGGGGCTTGGGAAGACGCCCCCGTCCCGCACCCCTGCGCCCCAGCCAGCAGCTGCGGCGGTCAGGAGCCCACTGGCCCGTTCTCCCGCCCCCTGCCCGACCCACCGGGCCAACTTTTGACTCCGGGTGCCCAGACACCCATCCAGGTGTGAGCCCGGGGTCGCAGGTACGTACTTGAAATTGGGAACGAGGCCCCGCCTGGGGTGCCTCGGGAGAGCCCCACATCAGGCGATCTAGACCCTTACGTCCCTTCCTCTAGCCGGGTCCAGGTGGCAAGCCTGGCGTCCCGACTATTTTTGAAACCTGTTTTCTCTCGCACCTTTCCCCTCGGGCTTCCAGAGTCCCTTGGGTGCCCAGGCAAACGACAGACTCGCCGCCACCTCTCCCTGGGGCGTCTGGGAGGCTGGGAGGGGCCTCCCCCCCTTTCTCTCCCCCAGTCTCTGATTACGCTCAGGGAACTTGTCACCTGGCACCTTCCCCTGAAGCCAGAAGACCCAGCCTAGCGCAGGTCTCGTTGTTTGGGAGGGAGAAGAGAGTGGCTTGCCTGGGGTCACACACACCTTCCTGCTGGTTTTGGAGCCAGAGCCCAGGACTGCTGCACACTCCCACCTCCCTGCCACCTACTTCGGGCCACAGCTTCTCCCCTCATCAGGAAACAACTGACAGTACAGCACCCCCTCATCCCATCCCCTCTTGGCCTTACAGGGCTCTGCCAGGGGAGCCCGAGCTCCCTGGTCCAAGGAGTGCCAGCGTGTCTGGGCCTAGAGGGCCCGCCTCCCTCCTCCTCTGGCCCCACTCTGTTGTTCAGCTGTGGCCGCCTCCCAGCTGAGACTGGCATTGGCATTGGGAATGTGGGGTGGTGCCTGCTGGTGGGGGGTGGGGTCAGAGACCCATTAGGGCTGGGCCACTAGGCCAGGGGATGTACCGTTTATCACACTGATTGCATCCCAAAATAGACCCTTTAAAAACTGGCAAGATTTGACCAGGACTTCTGAGATGGCCATCTGTTCCAGTGGGAGAATCCTGCGGGTTTTCTCCAGGAATGAGGGAGGGAGGGTGGTGGGGCAGCCCCCAGGGAAGTGGTTTTGAAGGAAGGGGGGCTGGCAAGGGAAGGGAGGCTAGAAAGAAATATCTCTGAATCTGGGGACGTGGAAGAGGTAGCCGCTTTGGATGTGGAAGAGAATTTCTCTTGCCATCTTCAATCTTGAGCAAGTCACTTGTCCTTTCTGATCCTCGGTTTCCTCATCTGCAACATGGGGATAAAAACTCTTACCTGGCAGGAGTATCAAGGAGATTATTGGTAATAATGCTCCCTCCTAACTGGTGGCTTTCTTCTCCCCTGCTCCTCTTCCCCCTGCCTATCCTTGGGACGCTGCCAGCATGATTAGTACTGTGGTGAGATGGGTTTTGGGGGCCCCGAGCCTGTCTGCACCTTTGGAGGAAAGGAGAGGAGCACCTCTCCCCCTCCTCCAGGCCCTGGTAAGCCCAAAGTGCTGTCCTGGAGCCTCTGGATCTGAAGGAGGGCAGGCCGAGCCCCACCTGTCCCTCGTGATGAAGTCTCAATTTCCTCACCTGTAAATTGCAAATAACAGTAGTACCTGCCTCCAGCTGTTTGTGGGGATCAAGTGGAATTGN	pathogenic	5,688
Determine if the mutation at chromosome 1, position 25543803 in gene LDLRAP1 is benign or pathogenic. If pathogenic, what disease(s) is associated?	benign	TTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCAGCTGGGGACAGCACAGCACTATCTTTCTCCCGACACAGAGAGGACTGCTGGCTTCTGAGCCAGGAGTAATTACAGAGGTTGAAGTTGGCCTTGCCTGAGGCACCCCCTTCTAAAAGAAGCCAGGCTGTGGCTTGGATGTGTGTGTCCTCCCTCTGGCTCCTTTTGGCACAGTTTGAAAGGAAGGCATGGCATCCTAGAGAGTTAGAACAAATCCTTCCAATCCTGGAGTTAGAACATCTGTGCCTGAGCAATTCTGGGGTTCAGACTGCCCTCCGAATGCTCCTAGGAAGCAGCTTGGGGTCAGGGTCAAGGTCATGCAGATTCTTGACCCTGGCAGGTTGGAAGGATCACTAGAGATAGCATTGACTCTCATTCACAGATAAACAAGACTCAGAGAGGGGAAGTACTTGCCTGAGGTCACACAGCAAGTCAGTGTCAGGGGCACGTTCCAGATCATACCATCTGTGAGGCTACCTGGGAAGTTGCGGGGGCATGGGGTGGCCCAGCATGCTCAGGTGGTGCCAGGGAGCAGCCTGGGAGCTACGAGGATGAGTAAAGTGCCTGGCTGGACTTGCTAAAGGCAAATTTTTATATACCGACCCTGCGCCTAACAAGGGTCTATACTGCAAGCTTGTCCAACCTGTGGCCCACTGGCCATGTGAGGTCCAGGACGGCTTTGAATGGAGCCCAACACAAATTGGTAAAGGTTCTTAAAACATTATGAGATTTTTTTGGGCAGGGTGTGGTGGCTCACAGCCATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACTCCATCTCTATTAATAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATAGCTTGAACCCGGGAGGTAGAGGTTGCAGTGACCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGTGAAACTCTGTCTCAGGGGAAAAAAAACAATACAGAAAAACAAAAAACATGAGTGTGTGTGTATATATATATATTTCAGCTCATCAGCTGTCGTTAGTGTTAGTGTATTTCATGTGTGGCCCAAGACACTTCTTCTTCCAATGTGGCCTAAGGAAGCCAAAAGTTTGGATATCCCTGGCTTACAGCCTCCACTATTTCCTAAGTCTCCCACTGCCCTGGACATCGCATTGCTTTTGTCCCTGAACAAGATCTTTCACCACTGGAGGAGCCCTCAGTCTCCCCATCTGTAAAATGGTCACTGGAAATCCTAGGCCGCTGCTCTCAGGCCCTCAGGCCCCTACGGGGTGGGGATTGGGGAAAAGGAGGAAAGCGGGGGCGTCTAGGGCTTGCGATTTGCTATCTTCTGGCGCCTTCGGGCGGCCTCGGAAACTCTTGGTGCCTGGACCTGGAGCCTGGACAGGGACCGGGCGGGGCGAGACCGGCCGTCGGGGGCGCGGCCCGTCTGGGGGCGGGGCCTGTCCTCTCTCGCCCCGCCCCGTCGGACGCCGCGGCGGAGCTGGCGCTGGGAGGGGAGGAGCGCGCAGCCCGCGCGCCGCAGGGCCGGGCGGAAAGTTTTTCCTGACGGAGTTTTGGCTGCGGCAGCGGCGGCGGCGGCCGGAGCGGGCCATGGACGCGCTCAAGTCGGCGGGGCGGGCGCTGATCCGGAGCCCCAGCTTGGCCAAGCAGAGCTGGGGGGGCGGTGGCCGGCACCGCAGTGAGTGTGCGCGCGTCAGCCGGGCCGGGCCGGGATCGGGCAGAGGCGCGCGGGGCCTCCGCGGGCGCCCGGAGTGCGGCCAAGTTGGGCAGAGGCGGGGCCTCACCGGCGCTCCGGTCCCGGCGTGGCCCTTTCCCGGCCCTGCGGGGCAGGGGGTCGGCCGGGGTCAAGTTGTGCACCTACTCGCCGGCCGCTCGATGCCGCTGCGAGGAGGGGCAGCGCTGAGGAAGGAGCCCGAGCTCGGGGTCCTCAGGTGCAGCCGGCATGGGGTGGGGTGCAGGTTGGGAGAAGAGGCCCCCGCCACCCGCGGCACCTCCCGCCCTGCTGTCCTGGCCAGCTAGGGGGAGGCAGGCGCTCGTCGTCGGTGCCTAGGGGAGGAGGAGAGGGCGCAGGGGCTTGGGAAGACGCCCCCGTCCCGCACCCCTGCGCCCCAGCCAGCAGCTGCGGCGGTCAGGAGCCCACTGGCCCGTTCTCCCGCCCCCTGCCCGACCCACCGGGCCAACTTTTGACTCCGGGTGCCCAGACACCCATCCAGGTGTGAGCCCGGGGTCGCAGGTACGTACTTGAAATTGGGAACGAGGCCCCGCCTGGGGTGCCTCGGGAGAGCCCCACATCAGGCGATCTAGACCCTTACGTCCCTTCCTCTAGCCGGGTCCAGGTGGCAAGCCTGGCGTCCCGACTATTTTTGAAACCTGTTTTCTCTCGCACCTTTCCCCTCGGGCTTCCAGAGTCCCTTGGGTGCCCAGGCAAACGACAGACTCGCCGCCACCTCTCCCTGGGGCGTCTGGGAGGCTGGGAGGGGCCTCCCCCCCTTTCTCTCCCCCAGTCTCTGATTACGCTCAGGGAACTTGTCACCTGGCACCTTCCCCTGAAGCCAGAAGACCCAGCCTAGCGCAGGTCTCGTTGTTTGGGAGGGAGAAGAGAGTGGCTTGCCTGGGGTCACACACACCTTCCTGCTGGTTTTGGAGCCAGAGCCCAGGACTGCTGCACACTCCCACCTCCCTGCCACCTACTTCGGGCCACAGCTTCTCCCCTCATCAGGAAACAACTGACAGTACAGCACCCCCTCATCCCATCCCCTCTTGGCCTTACAGGGCTCTGCCAGGGGAGCCCGAGCTCCCTGGTCCAAGGAGTGCCAGCGTGTCTGGGCCTAGAGGGCCCGCCTCCCTCCTCCTCTGGCCCCACTCTGTTGTTCAGCTGTGGCCGCCTCCCAGCTGAGACTGGCATTGGCATTGGGAATGTGGGGTGGTGCCTGCTGGTGGGGGGTGGGGTCAGAGACCCATTAGGGCTGGGCCACTAGGCCAGGGGATGTACCGTTTATCACACTGATTGCATCCCAAAATAGACCCTTTAAAAACTGGCAAGATTTGACCAGGACTTCTGAGATGGCCATCTGTTCCAGTGGGAGAATCCTGCGGGTTTTCTCCAGGAATGAGGGAGGGAGGGTGGTGGGGCAGCCCCCAGGGAAGTGGTTTTGAAGGAAGGGGGGCTGGCAAGGGAAGGGAGGCTAGAAAGAAATATCTCTGAATCTGGGGACGTGGAAGAGGTAGCCGCTTTGGATGTGGAAGAGAATTTCTCTTGCCATCTTCAATCTTGAGCAAGTCACTTGTCCTTTCTGATCCTCGGTTTCCTCATCTGCAACATGGGGATAAAAACTCTTACCTGGCAGGAGTATCAAGGAGATTATTGGTAATAATGCTCCCTCCTAACTGGTGGCTTTCTTCTCCCCTGCTCCTCTTCCCCCTGCCTATCCTTGGGACGCTGCCAGCATGATTAGTACTGTGGTGAGATGGGTTTTGGGGGCCCCGAGCCTGTCTGCACCTTTGGAGGAAAGGAGAGGAGCACCTCTCCCCCTCCTCCAGGCCCTGGTAAGCCCAAAGTGCTGTCCTGGAGCCTCTGGATCTGAAGGAGGGCAGGCCGAGCCCCACCTGTCCCTCGTGATGAAGTCTCAATTTCCTCACCTGTAAATTGCAAATAACAGTAGTACCTGCCTCCAGCTGTTTGTGGGGATCAAGTGGAATTGCGTTTGCCTGGCATAGAGGAGGAGTTTGGTAAATGGTAACT	TTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCAGCTGGGGACAGCACAGCACTATCTTTCTCCCGACACAGAGAGGACTGCTGGCTTCTGAGCCAGGAGTAATTACAGAGGTTGAAGTTGGCCTTGCCTGAGGCACCCCCTTCTAAAAGAAGCCAGGCTGTGGCTTGGATGTGTGTGTCCTCCCTCTGGCTCCTTTTGGCACAGTTTGAAAGGAAGGCATGGCATCCTAGAGAGTTAGAACAAATCCTTCCAATCCTGGAGTTAGAACATCTGTGCCTGAGCAATTCTGGGGTTCAGACTGCCCTCCGAATGCTCCTAGGAAGCAGCTTGGGGTCAGGGTCAAGGTCATGCAGATTCTTGACCCTGGCAGGTTGGAAGGATCACTAGAGATAGCATTGACTCTCATTCACAGATAAACAAGACTCAGAGAGGGGAAGTACTTGCCTGAGGTCACACAGCAAGTCAGTGTCAGGGGCACGTTCCAGATCATACCATCTGTGAGGCTACCTGGGAAGTTGCGGGGGCATGGGGTGGCCCAGCATGCTCAGGTGGTGCCAGGGAGCAGCCTGGGAGCTACGAGGATGAGTAAAGTGCCTGGCTGGACTTGCTAAAGGCAAATTTTTATATACCGACCCTGCGCCTAACAAGGGTCTATACTGCAAGCTTGTCCAACCTGTGGCCCACTGGCCATGTGAGGTCCAGGACGGCTTTGAATGGAGCCCAACACAAATTGGTAAAGGTTCTTAAAACATTATGAGATTTTTTTGGGCAGGGTGTGGTGGCTCACAGCCATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACTCCATCTCTATTAATAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATAGCTTGAACCCGGGAGGTAGAGGTTGCAGTGACCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGTGAAACTCTGTCTCAGGGGAAAAAAAACAATACAGAAAAACAAAAAACATGAGTGTGTGTGTATATATATATATTTCAGCTCATCAGCTGTCGTTAGTGTTAGTGTATTTCATGTGTGGCCCAAGACACTTCTTCTTCCAATGTGGCCTAAGGAAGCCAAAAGTTTGGATATCCCTGGCTTACAGCCTCCACTATTTCCTAAGTCTCCCACTGCCCTGGACATCGCATTGCTTTTGTCCCTGAACAAGATCTTTCACCACTGGAGGAGCCCTCAGTCTCCCCATCTGTAAAATGGTCACTGGAAATCCTAGGCCGCTGCTCTCAGGCCCTCAGGCCCCTACGGGGTGGGGATTGGGGAAAAGGAGGAAAGCGGGGGCGTCTAGGGCTTGCGATTTGCTATCTTCTGGCGCCTTCGGGCGGCCTCGGAAACTCTTGGTGCCTGGACCTGGAGCCTGGACAGGGACCGGGCGGGGCGAGACCGGCCGTCGGGGGCGCGGCCCGTCTGGGGGCGGGGCCTGTCCTCTCTCGCCCCGCCCCGTCGGACGCCGCGGCGGAGCTGGCGCTGGGAGGGGAGGAGCGCGCAGCCCGCGCGCCGCAGGGCCGGGCGGAAAGTTTTTCCTGACGGAGTTTTGGCTGCGGCAGCGGCGGCGGCGGCCGGAGCGGGCCATGGACGCGCTCAAGTCGGCGGGGCGGGCGCTGATCCGGAGCCCCAGCTTGGCCAAGCAGAGCTGGGGGGGCGGTGGCCGGCACCGCAGTGAGTGTGCGCGCGTCAGCCGAGCCGGGCCGGGCCGGGATCGGGCAGAGGCGCGCGGGGCCTCCGCGGGCGCCCGGAGTGCGGCCAAGTTGGGCAGAGGCGGGGCCTCACCGGCGCTCCGGTCCCGGCGTGGCCCTTTCCCGGCCCTGCGGGGCAGGGGGTCGGCCGGGGTCAAGTTGTGCACCTACTCGCCGGCCGCTCGATGCCGCTGCGAGGAGGGGCAGCGCTGAGGAAGGAGCCCGAGCTCGGGGTCCTCAGGTGCAGCCGGCATGGGGTGGGGTGCAGGTTGGGAGAAGAGGCCCCCGCCACCCGCGGCACCTCCCGCCCTGCTGTCCTGGCCAGCTAGGGGGAGGCAGGCGCTCGTCGTCGGTGCCTAGGGGAGGAGGAGAGGGCGCAGGGGCTTGGGAAGACGCCCCCGTCCCGCACCCCTGCGCCCCAGCCAGCAGCTGCGGCGGTCAGGAGCCCACTGGCCCGTTCTCCCGCCCCCTGCCCGACCCACCGGGCCAACTTTTGACTCCGGGTGCCCAGACACCCATCCAGGTGTGAGCCCGGGGTCGCAGGTACGTACTTGAAATTGGGAACGAGGCCCCGCCTGGGGTGCCTCGGGAGAGCCCCACATCAGGCGATCTAGACCCTTACGTCCCTTCCTCTAGCCGGGTCCAGGTGGCAAGCCTGGCGTCCCGACTATTTTTGAAACCTGTTTTCTCTCGCACCTTTCCCCTCGGGCTTCCAGAGTCCCTTGGGTGCCCAGGCAAACGACAGACTCGCCGCCACCTCTCCCTGGGGCGTCTGGGAGGCTGGGAGGGGCCTCCCCCCCTTTCTCTCCCCCAGTCTCTGATTACGCTCAGGGAACTTGTCACCTGGCACCTTCCCCTGAAGCCAGAAGACCCAGCCTAGCGCAGGTCTCGTTGTTTGGGAGGGAGAAGAGAGTGGCTTGCCTGGGGTCACACACACCTTCCTGCTGGTTTTGGAGCCAGAGCCCAGGACTGCTGCACACTCCCACCTCCCTGCCACCTACTTCGGGCCACAGCTTCTCCCCTCATCAGGAAACAACTGACAGTACAGCACCCCCTCATCCCATCCCCTCTTGGCCTTACAGGGCTCTGCCAGGGGAGCCCGAGCTCCCTGGTCCAAGGAGTGCCAGCGTGTCTGGGCCTAGAGGGCCCGCCTCCCTCCTCCTCTGGCCCCACTCTGTTGTTCAGCTGTGGCCGCCTCCCAGCTGAGACTGGCATTGGCATTGGGAATGTGGGGTGGTGCCTGCTGGTGGGGGGTGGGGTCAGAGACCCATTAGGGCTGGGCCACTAGGCCAGGGGATGTACCGTTTATCACACTGATTGCATCCCAAAATAGACCCTTTAAAAACTGGCAAGATTTGACCAGGACTTCTGAGATGGCCATCTGTTCCAGTGGGAGAATCCTGCGGGTTTTCTCCAGGAATGAGGGAGGGAGGGTGGTGGGGCAGCCCCCAGGGAAGTGGTTTTGAAGGAAGGGGGGCTGGCAAGGGAAGGGAGGCTAGAAAGAAATATCTCTGAATCTGGGGACGTGGAAGAGGTAGCCGCTTTGGATGTGGAAGAGAATTTCTCTTGCCATCTTCAATCTTGAGCAAGTCACTTGTCCTTTCTGATCCTCGGTTTCCTCATCTGCAACATGGGGATAAAAACTCTTACCTGGCAGGAGTATCAAGGAGATTATTGGTAATAATGCTCCCTCCTAACTGGTGGCTTTCTTCTCCCCTGCTCCTCTTCCCCCTGCCTATCCTTGGGACGCTGCCAGCATGATTAGTACTGTGGTGAGATGGGTTTTGGGGGCCCCGAGCCTGTCTGCACCTTTGGAGGAAAGGAGAGGAGCACCTCTCCCCCTCCTCCAGGCCCTGGTAAGCCCAAAGTGCTGTCCTGGAGCCTCTGGATCTGAAGGAGGGCAGGCCGAGCCCCACCTGTCCCTCGTGATGAAGTCTCAATTTCCTCACCTGTAAATTGCAAATAACAGTAGTACCTGCCTCCAGCTGTTTGTGGGGATCAAGTGGAATTGCGTTTGCCTGGCATAGAGGAGGAGTTTGGTAAATGG	benign	5,692
Is the variant located on chromosome 1 at position 25553942, gene LDLRAP1 (low density lipoprotein receptor adaptor protein 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.	pathogenic; ['Hypercholesterolemia,_familial,_4']	AGGTTCTAGATGACAGTCAGTAAGTCCCTGCTCACCTGATCTCAAGACATGAGGGGAACTGGGTACATCTGTAAGTTCCTGTATAACCCTCCCCAGCCCTGACACCCGCACCCTCTTTCAGATGAAGAAATGGCCTCAGAGAGGGACAGTGGCTTGCTCAAGGCAAATCCAGAGAAATGTGGGTGTACAAGGCTCCTTCTGGCTGTGGAGAGGGGGACCAGAGCCCCTGGAGGCCCAGGGCTCTAGGATAGGAGCTGAGAGGGGCAGCAGGGATCCAGACTGGGTAGGGGACCTGGTGATGCCACCTGGACCCAGACTTCTGCTCTTGACAGAGCCGGAACTCCAGAACCAAGCTGAGCCTTGTAGTAGGGGCCCACATCCCTGCCAGAGCCTCAGCTGCCCTGGAACTAGCAATACCCAAACTTTCTTCCTGTGGCTTTTCAATCAGAGCCAGTGAGGAAGGCCTCAGGAGGAGGTAGGGAGGGCCCAGGACATCTCCCAGCCCCTCCCTGGGGGATGGTCTAGGGAAGCTGGCCCTGGCTACCTCTCGTGGCCCCTGGAAGCTGATTCCTGGCTGGATCCTGCTCTGTCCTCAACAAGATTGTGTGTGAGGCTGAAGAGCAGTTTTCTTTCTCATCTGTAAAATGGTGCAGTCATAACAAACACCTCCTACAAGCACAGCATCTGTGAGGGTTTCCTCTCTGTAAAATGGGACAGAGAGGTAGGGGACAGGAAGGGGCTCTGGCAGGTGGAAGTGTGAGGTGTTCATTCATCTTTCTTCATGTCCTCCTTCCGAGGAGCCGGGGATGGTCAGAAACTGTCAGTGCAGCCTGCTTTTGCCCTCATGCCCATTTGCCTCCACGGGGCCCTCACCTACGTGGTGGGGCGCTCTTTCCACGTGTCCCTCCTGGTCCATTTGCCCACCCAGTGAGGCAGGCTCATCCCCTTATTTCCTGACATTTGTGTGGTTGGTGCTTTTAGAGAACTCTCCTTGTGGACTCTGTTCTGCACCATTGTCACAGCCCAGAGAGGGGGGAATGTTAGTCCCAAAGAGGAGAGGGGACTTCCCTAGGACCATCCAGGGGGTGGGAAGCAGAGTGGGTCTCGAACCTTCTCCGATTTGGGAAATCGCCTTCTCCTCTCCCCACCCACCCTTACCCTTCCCTGCTCTCCCTGGGCTACTGTCTCCTGCCCAGCCTCCCACATGCCCCTGTTGGTCTCTACGGATGCGCACAGGGAGGAAAGCAGTGCAGGCTGGGGCCATGGGAACCGCTCAGGGTTGAAGTCCGACTCATTGTATGTGGCCTTCATCTCATGACTTTGCCTCCCTGAGCCTCAGTCTCCTAATCTGTAGAATCATTGTCTCACAGGATTGCACTAAGGATTCAGTAAGAAATGGTATGATTTGCCCTCAGCAAGTGGTAGCATTGAAGTAAAGAGGGCTCAGGGCTTGAAAATAGGGCTCGAAACTTGGCTCTTGCACTTCCTGGCTCTCTGGACTTGGTTATGTGATTGAGCCTCCATGGCCTCCGTGTCTTTGTCTGTCAATGGGTTTGATTAAAGCGTTGACCTCATAGGTTCTTAGGAGGATTAATGAGAACATTTTATGTAAAGCTGCTTACATGGAGCCTTGGTATGTGCCGGAAAGCTTTAGCCCTTTATTAAAAGTGACAGCAGACCCAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACCAGCTACTCGGGAGGCAGAGGCAGGAGAATCGCTTGAACCTGGGGTGCAGAGGTTGCAGTAAGCTGAGCTCGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACTCAGTCTCAAAAAAAAAAAAAAAAAAAGAGTGGCAGTAGTGGTGGGGGAGACCCCCATCCCCCTTGCTGGGGTTTCCTAGGAAAGAAGGCTGGTGAGAGCTGTTGCTGGTGGTGGGCCCTGAGCCGCAGGGTCTGAGGGCCTACCCTGTGCTACCCCAGAGCTGCCTGAGAACTGGACAGACACGCGGGAGACGCTGCTGGAGGGGATGCTGTTCAGCCTCAAGTACCTGGGCATGACGCTAGTGGAGCAGCCCAAGGGTGAGGAGCTGTCGGCCGCCGCCATCAAGAGGATCGTGGCTACAGTGAGCACCCCAGTCAGGAAGGGTGGGGGAACCAGGGACCAAGGACCAGCTTCTTCCCAGGGTGCCCTCGTCCCAGCTTGTTACTCCAGTTGGGTGTGTCTGAGCCTGGCCCTGCCCTTCATTCTCCTTCCATCCAGCTTTTGGGCCTTGGCAGAGGGGAACCATTGGACTTGCAAGGTCACGGTTAGTGGCTTCCCTCCAGCCATTATGGCCTCTTCCAGCCTCCCCACCCCCAGCTCAGGCTCCCTACCAATGCATTGGTGACTTATCAGCACCAGGAAGGGTGGGGAGTTTGCTTTCCCTTGACTACCTGCCCAATGGCCTGAGAGACAGCATAGCCCATCAGAGAGCAGATTGCCCCCTCCCTAACTTTGAGCAAGGGTGGGCCTTTTAAATCCACTTCCCTTGGTGGCCTCAGACCCCTCAGCTCAATGGATGGAGCAGAGTACTCAGGAGTCATCCTGCTGGGTTGTGCTAGCTCATTCAGTGCCGAGTCTGCAGGCCCTTCTAGCTGTGTGTCCTTGGGTAAGTCCCTTAGCCTCTCTGAGTCCATCTCTGGGGAGAGGGAGGATGACTCCAGGTCCACGGTGCCTGACAGATAGCTGGTGCTCAGCAGATGCTGCTCCTGTTTCTATTGCAAGAAGGTGCTGGCTGAGTGGTCTTGCCCACACTGCTGCCAGTCACCTGAGCTGAGATGGGCCCCGTGCCTGGGGCTTAGGAACAGTGAAGTGTAAGCCATGAGGGTGGGTCTCAAGTGAGGCTGGCAGACTCCTCTGACTCCTGTCTGCTCCCAAGGCTAAGGCCAGTGGGAAGAAGCTGCAGAAGGTGACTCTGAAGGTGTCGCCACGGGGAATTATCCTGACAGACAACCTCACCAACCAGCTCATTGAGAACGTGTCCATATACAGGTACGCTCAGCATGGGGTTGGCCCATCCACTCTGCCACTTGGGGCAGTGGGTGGAGTATCCCATCTGAATCCAGGCTCTACCACTTCCTACCTGGGTGACATTGGAGCCTCAGTTTCCTCATCTGTAAAATGGGGGTGGGAACAGATCCTGCTGCACAGCGCTGTTAGGAAACGTGGAGTGCACGGCACCTGGCTCATGATGAGCATTTGGTTAAGTGGCAGCTGCTGCTGTCATCATCACCAGTTGCAGAAGACAGCTGAGCCCACCCGTGCCCTTCCCCCCTACTCCCCACCAGCATGCCGCTGAGTCGGGCTTGGAGCAGAGAACTGCAGAGTCACTGCCTTTTCCTTCTGCTGTGAATGCAGCAGCTCAGCTCTGGGTATCTGGCCAGACATTCCAGGGAGGCCTCAGCCAAGGTCTGAAGTCAGAGTATAGATGGTCTCTCTAGTGGGTCCTCTGGTCAGCCCTTAGAGCCTCAGACTATCCCCACCTCTCTCGGCTGGTCAGTTGTAGTTTTTCAGAACTGGAAGGGACAGCTCAGGTCCATTTTACAGATGGAGAAGCTGAGGCCCAGAGAGGGAATTGCCTAAGGCTGCACAGTGAGGTAGTAGCTAAACTGGAACTAGGATATCCGGGCCAGAGCCCTGTCCAGCAGGCTCCCGTCTGCCTGGCATCCCTCCACCCTCTTGCTTTGTCTCTAAGCAGATGGCTCAGCCCGTTGGTGCACAGGCCAGTAGTAGGGTCAGTAGATGTGTGTTGTGGGGGTCTGGCTGATGTCTTCCTCTCACCGGCCTGATCATACCTGCCTTCCTTTAGTCAACAGTTTCAGATACCTATTCTGCCAACGTCTGTGCCAGATGAGGACTCCAATCCTGCTCATTGCCCTCAAGGAGCTTCCACTCTAGTTGGGTATAGTCGGGAGGAAACAGGAGATAGAGCATAGTGTTCCAAAAAGGCAAGGAGGAGATCTGCCTGGGGAAATCCCGGAAGGCCTCCCAGGGGAGGCGGCACCTTGC	AGGTTCTAGATGACAGTCAGTAAGTCCCTGCTCACCTGATCTCAAGACATGAGGGGAACTGGGTACATCTGTAAGTTCCTGTATAACCCTCCCCAGCCCTGACACCCGCACCCTCTTTCAGATGAAGAAATGGCCTCAGAGAGGGACAGTGGCTTGCTCAAGGCAAATCCAGAGAAATGTGGGTGTACAAGGCTCCTTCTGGCTGTGGAGAGGGGGACCAGAGCCCCTGGAGGCCCAGGGCTCTAGGATAGGAGCTGAGAGGGGCAGCAGGGATCCAGACTGGGTAGGGGACCTGGTGATGCCACCTGGACCCAGACTTCTGCTCTTGACAGAGCCGGAACTCCAGAACCAAGCTGAGCCTTGTAGTAGGGGCCCACATCCCTGCCAGAGCCTCAGCTGCCCTGGAACTAGCAATACCCAAACTTTCTTCCTGTGGCTTTTCAATCAGAGCCAGTGAGGAAGGCCTCAGGAGGAGGTAGGGAGGGCCCAGGACATCTCCCAGCCCCTCCCTGGGGGATGGTCTAGGGAAGCTGGCCCTGGCTACCTCTCGTGGCCCCTGGAAGCTGATTCCTGGCTGGATCCTGCTCTGTCCTCAACAAGATTGTGTGTGAGGCTGAAGAGCAGTTTTCTTTCTCATCTGTAAAATGGTGCAGTCATAACAAACACCTCCTACAAGCACAGCATCTGTGAGGGTTTCCTCTCTGTAAAATGGGACAGAGAGGTAGGGGACAGGAAGGGGCTCTGGCAGGTGGAAGTGTGAGGTGTTCATTCATCTTTCTTCATGTCCTCCTTCCGAGGAGCCGGGGATGGTCAGAAACTGTCAGTGCAGCCTGCTTTTGCCCTCATGCCCATTTGCCTCCACGGGGCCCTCACCTACGTGGTGGGGCGCTCTTTCCACGTGTCCCTCCTGGTCCATTTGCCCACCCAGTGAGGCAGGCTCATCCCCTTATTTCCTGACATTTGTGTGGTTGGTGCTTTTAGAGAACTCTCCTTGTGGACTCTGTTCTGCACCATTGTCACAGCCCAGAGAGGGGGGAATGTTAGTCCCAAAGAGGAGAGGGGACTTCCCTAGGACCATCCAGGGGGTGGGAAGCAGAGTGGGTCTCGAACCTTCTCCGATTTGGGAAATCGCCTTCTCCTCTCCCCACCCACCCTTACCCTTCCCTGCTCTCCCTGGGCTACTGTCTCCTGCCCAGCCTCCCACATGCCCCTGTTGGTCTCTACGGATGCGCACAGGGAGGAAAGCAGTGCAGGCTGGGGCCATGGGAACCGCTCAGGGTTGAAGTCCGACTCATTGTATGTGGCCTTCATCTCATGACTTTGCCTCCCTGAGCCTCAGTCTCCTAATCTGTAGAATCATTGTCTCACAGGATTGCACTAAGGATTCAGTAAGAAATGGTATGATTTGCCCTCAGCAAGTGGTAGCATTGAAGTAAAGAGGGCTCAGGGCTTGAAAATAGGGCTCGAAACTTGGCTCTTGCACTTCCTGGCTCTCTGGACTTGGTTATGTGATTGAGCCTCCATGGCCTCCGTGTCTTTGTCTGTCAATGGGTTTGATTAAAGCGTTGACCTCATAGGTTCTTAGGAGGATTAATGAGAACATTTTATGTAAAGCTGCTTACATGGAGCCTTGGTATGTGCCGGAAAGCTTTAGCCCTTTATTAAAAGTGACAGCAGACCCAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACCAGCTACTCGGGAGGCAGAGGCAGGAGAATCGCTTGAACCTGGGGTGCAGAGGTTGCAGTAAGCTGAGCTCGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACTCAGTCTCAAAAAAAAAAAAAAAAAAAGAGTGGCAGTAGTGGTGGGGGAGACCCCCATCCCCCTTGCTGGGGTTTCCTAGGAAAGAAGGCTGGTGAGAGCTGTTGCTGGTGGTGGGCCCTGAGCCGCAGGGTCTGAGGGCCTACCCTGTGCTACCCCAGAGCTGCCTGAGAACTGGACAGACGCGGGAGACGCTGCTGGAGGGGATGCTGTTCAGCCTCAAGTACCTGGGCATGACGCTAGTGGAGCAGCCCAAGGGTGAGGAGCTGTCGGCCGCCGCCATCAAGAGGATCGTGGCTACAGTGAGCACCCCAGTCAGGAAGGGTGGGGGAACCAGGGACCAAGGACCAGCTTCTTCCCAGGGTGCCCTCGTCCCAGCTTGTTACTCCAGTTGGGTGTGTCTGAGCCTGGCCCTGCCCTTCATTCTCCTTCCATCCAGCTTTTGGGCCTTGGCAGAGGGGAACCATTGGACTTGCAAGGTCACGGTTAGTGGCTTCCCTCCAGCCATTATGGCCTCTTCCAGCCTCCCCACCCCCAGCTCAGGCTCCCTACCAATGCATTGGTGACTTATCAGCACCAGGAAGGGTGGGGAGTTTGCTTTCCCTTGACTACCTGCCCAATGGCCTGAGAGACAGCATAGCCCATCAGAGAGCAGATTGCCCCCTCCCTAACTTTGAGCAAGGGTGGGCCTTTTAAATCCACTTCCCTTGGTGGCCTCAGACCCCTCAGCTCAATGGATGGAGCAGAGTACTCAGGAGTCATCCTGCTGGGTTGTGCTAGCTCATTCAGTGCCGAGTCTGCAGGCCCTTCTAGCTGTGTGTCCTTGGGTAAGTCCCTTAGCCTCTCTGAGTCCATCTCTGGGGAGAGGGAGGATGACTCCAGGTCCACGGTGCCTGACAGATAGCTGGTGCTCAGCAGATGCTGCTCCTGTTTCTATTGCAAGAAGGTGCTGGCTGAGTGGTCTTGCCCACACTGCTGCCAGTCACCTGAGCTGAGATGGGCCCCGTGCCTGGGGCTTAGGAACAGTGAAGTGTAAGCCATGAGGGTGGGTCTCAAGTGAGGCTGGCAGACTCCTCTGACTCCTGTCTGCTCCCAAGGCTAAGGCCAGTGGGAAGAAGCTGCAGAAGGTGACTCTGAAGGTGTCGCCACGGGGAATTATCCTGACAGACAACCTCACCAACCAGCTCATTGAGAACGTGTCCATATACAGGTACGCTCAGCATGGGGTTGGCCCATCCACTCTGCCACTTGGGGCAGTGGGTGGAGTATCCCATCTGAATCCAGGCTCTACCACTTCCTACCTGGGTGACATTGGAGCCTCAGTTTCCTCATCTGTAAAATGGGGGTGGGAACAGATCCTGCTGCACAGCGCTGTTAGGAAACGTGGAGTGCACGGCACCTGGCTCATGATGAGCATTTGGTTAAGTGGCAGCTGCTGCTGTCATCATCACCAGTTGCAGAAGACAGCTGAGCCCACCCGTGCCCTTCCCCCCTACTCCCCACCAGCATGCCGCTGAGTCGGGCTTGGAGCAGAGAACTGCAGAGTCACTGCCTTTTCCTTCTGCTGTGAATGCAGCAGCTCAGCTCTGGGTATCTGGCCAGACATTCCAGGGAGGCCTCAGCCAAGGTCTGAAGTCAGAGTATAGATGGTCTCTCTAGTGGGTCCTCTGGTCAGCCCTTAGAGCCTCAGACTATCCCCACCTCTCTCGGCTGGTCAGTTGTAGTTTTTCAGAACTGGAAGGGACAGCTCAGGTCCATTTTACAGATGGAGAAGCTGAGGCCCAGAGAGGGAATTGCCTAAGGCTGCACAGTGAGGTAGTAGCTAAACTGGAACTAGGATATCCGGGCCAGAGCCCTGTCCAGCAGGCTCCCGTCTGCCTGGCATCCCTCCACCCTCTTGCTTTGTCTCTAAGCAGATGGCTCAGCCCGTTGGTGCACAGGCCAGTAGTAGGGTCAGTAGATGTGTGTTGTGGGGGTCTGGCTGATGTCTTCCTCTCACCGGCCTGATCATACCTGCCTTCCTTTAGTCAACAGTTTCAGATACCTATTCTGCCAACGTCTGTGCCAGATGAGGACTCCAATCCTGCTCATTGCCCTCAAGGAGCTTCCACTCTAGTTGGGTATAGTCGGGAGGAAACAGGAGATAGAGCATAGTGTTCCAAAAAGGCAAGGAGGAGATCTGCCTGGGGAAATCCCGGAAGGCCTCCCAGGGGAGGCGGCACCTTGCNN	pathogenic	5,696
Variant at chromosome 1, position 25553974, gene LDLRAP1 (low density lipoprotein receptor adaptor protein 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Hypercholesterolemia,_familial,_4']	CACCTGATCTCAAGACATGAGGGGAACTGGGTACATCTGTAAGTTCCTGTATAACCCTCCCCAGCCCTGACACCCGCACCCTCTTTCAGATGAAGAAATGGCCTCAGAGAGGGACAGTGGCTTGCTCAAGGCAAATCCAGAGAAATGTGGGTGTACAAGGCTCCTTCTGGCTGTGGAGAGGGGGACCAGAGCCCCTGGAGGCCCAGGGCTCTAGGATAGGAGCTGAGAGGGGCAGCAGGGATCCAGACTGGGTAGGGGACCTGGTGATGCCACCTGGACCCAGACTTCTGCTCTTGACAGAGCCGGAACTCCAGAACCAAGCTGAGCCTTGTAGTAGGGGCCCACATCCCTGCCAGAGCCTCAGCTGCCCTGGAACTAGCAATACCCAAACTTTCTTCCTGTGGCTTTTCAATCAGAGCCAGTGAGGAAGGCCTCAGGAGGAGGTAGGGAGGGCCCAGGACATCTCCCAGCCCCTCCCTGGGGGATGGTCTAGGGAAGCTGGCCCTGGCTACCTCTCGTGGCCCCTGGAAGCTGATTCCTGGCTGGATCCTGCTCTGTCCTCAACAAGATTGTGTGTGAGGCTGAAGAGCAGTTTTCTTTCTCATCTGTAAAATGGTGCAGTCATAACAAACACCTCCTACAAGCACAGCATCTGTGAGGGTTTCCTCTCTGTAAAATGGGACAGAGAGGTAGGGGACAGGAAGGGGCTCTGGCAGGTGGAAGTGTGAGGTGTTCATTCATCTTTCTTCATGTCCTCCTTCCGAGGAGCCGGGGATGGTCAGAAACTGTCAGTGCAGCCTGCTTTTGCCCTCATGCCCATTTGCCTCCACGGGGCCCTCACCTACGTGGTGGGGCGCTCTTTCCACGTGTCCCTCCTGGTCCATTTGCCCACCCAGTGAGGCAGGCTCATCCCCTTATTTCCTGACATTTGTGTGGTTGGTGCTTTTAGAGAACTCTCCTTGTGGACTCTGTTCTGCACCATTGTCACAGCCCAGAGAGGGGGGAATGTTAGTCCCAAAGAGGAGAGGGGACTTCCCTAGGACCATCCAGGGGGTGGGAAGCAGAGTGGGTCTCGAACCTTCTCCGATTTGGGAAATCGCCTTCTCCTCTCCCCACCCACCCTTACCCTTCCCTGCTCTCCCTGGGCTACTGTCTCCTGCCCAGCCTCCCACATGCCCCTGTTGGTCTCTACGGATGCGCACAGGGAGGAAAGCAGTGCAGGCTGGGGCCATGGGAACCGCTCAGGGTTGAAGTCCGACTCATTGTATGTGGCCTTCATCTCATGACTTTGCCTCCCTGAGCCTCAGTCTCCTAATCTGTAGAATCATTGTCTCACAGGATTGCACTAAGGATTCAGTAAGAAATGGTATGATTTGCCCTCAGCAAGTGGTAGCATTGAAGTAAAGAGGGCTCAGGGCTTGAAAATAGGGCTCGAAACTTGGCTCTTGCACTTCCTGGCTCTCTGGACTTGGTTATGTGATTGAGCCTCCATGGCCTCCGTGTCTTTGTCTGTCAATGGGTTTGATTAAAGCGTTGACCTCATAGGTTCTTAGGAGGATTAATGAGAACATTTTATGTAAAGCTGCTTACATGGAGCCTTGGTATGTGCCGGAAAGCTTTAGCCCTTTATTAAAAGTGACAGCAGACCCAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACCAGCTACTCGGGAGGCAGAGGCAGGAGAATCGCTTGAACCTGGGGTGCAGAGGTTGCAGTAAGCTGAGCTCGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACTCAGTCTCAAAAAAAAAAAAAAAAAAAGAGTGGCAGTAGTGGTGGGGGAGACCCCCATCCCCCTTGCTGGGGTTTCCTAGGAAAGAAGGCTGGTGAGAGCTGTTGCTGGTGGTGGGCCCTGAGCCGCAGGGTCTGAGGGCCTACCCTGTGCTACCCCAGAGCTGCCTGAGAACTGGACAGACACGCGGGAGACGCTGCTGGAGGGGATGCTGTTCAGCCTCAAGTACCTGGGCATGACGCTAGTGGAGCAGCCCAAGGGTGAGGAGCTGTCGGCCGCCGCCATCAAGAGGATCGTGGCTACAGTGAGCACCCCAGTCAGGAAGGGTGGGGGAACCAGGGACCAAGGACCAGCTTCTTCCCAGGGTGCCCTCGTCCCAGCTTGTTACTCCAGTTGGGTGTGTCTGAGCCTGGCCCTGCCCTTCATTCTCCTTCCATCCAGCTTTTGGGCCTTGGCAGAGGGGAACCATTGGACTTGCAAGGTCACGGTTAGTGGCTTCCCTCCAGCCATTATGGCCTCTTCCAGCCTCCCCACCCCCAGCTCAGGCTCCCTACCAATGCATTGGTGACTTATCAGCACCAGGAAGGGTGGGGAGTTTGCTTTCCCTTGACTACCTGCCCAATGGCCTGAGAGACAGCATAGCCCATCAGAGAGCAGATTGCCCCCTCCCTAACTTTGAGCAAGGGTGGGCCTTTTAAATCCACTTCCCTTGGTGGCCTCAGACCCCTCAGCTCAATGGATGGAGCAGAGTACTCAGGAGTCATCCTGCTGGGTTGTGCTAGCTCATTCAGTGCCGAGTCTGCAGGCCCTTCTAGCTGTGTGTCCTTGGGTAAGTCCCTTAGCCTCTCTGAGTCCATCTCTGGGGAGAGGGAGGATGACTCCAGGTCCACGGTGCCTGACAGATAGCTGGTGCTCAGCAGATGCTGCTCCTGTTTCTATTGCAAGAAGGTGCTGGCTGAGTGGTCTTGCCCACACTGCTGCCAGTCACCTGAGCTGAGATGGGCCCCGTGCCTGGGGCTTAGGAACAGTGAAGTGTAAGCCATGAGGGTGGGTCTCAAGTGAGGCTGGCAGACTCCTCTGACTCCTGTCTGCTCCCAAGGCTAAGGCCAGTGGGAAGAAGCTGCAGAAGGTGACTCTGAAGGTGTCGCCACGGGGAATTATCCTGACAGACAACCTCACCAACCAGCTCATTGAGAACGTGTCCATATACAGGTACGCTCAGCATGGGGTTGGCCCATCCACTCTGCCACTTGGGGCAGTGGGTGGAGTATCCCATCTGAATCCAGGCTCTACCACTTCCTACCTGGGTGACATTGGAGCCTCAGTTTCCTCATCTGTAAAATGGGGGTGGGAACAGATCCTGCTGCACAGCGCTGTTAGGAAACGTGGAGTGCACGGCACCTGGCTCATGATGAGCATTTGGTTAAGTGGCAGCTGCTGCTGTCATCATCACCAGTTGCAGAAGACAGCTGAGCCCACCCGTGCCCTTCCCCCCTACTCCCCACCAGCATGCCGCTGAGTCGGGCTTGGAGCAGAGAACTGCAGAGTCACTGCCTTTTCCTTCTGCTGTGAATGCAGCAGCTCAGCTCTGGGTATCTGGCCAGACATTCCAGGGAGGCCTCAGCCAAGGTCTGAAGTCAGAGTATAGATGGTCTCTCTAGTGGGTCCTCTGGTCAGCCCTTAGAGCCTCAGACTATCCCCACCTCTCTCGGCTGGTCAGTTGTAGTTTTTCAGAACTGGAAGGGACAGCTCAGGTCCATTTTACAGATGGAGAAGCTGAGGCCCAGAGAGGGAATTGCCTAAGGCTGCACAGTGAGGTAGTAGCTAAACTGGAACTAGGATATCCGGGCCAGAGCCCTGTCCAGCAGGCTCCCGTCTGCCTGGCATCCCTCCACCCTCTTGCTTTGTCTCTAAGCAGATGGCTCAGCCCGTTGGTGCACAGGCCAGTAGTAGGGTCAGTAGATGTGTGTTGTGGGGGTCTGGCTGATGTCTTCCTCTCACCGGCCTGATCATACCTGCCTTCCTTTAGTCAACAGTTTCAGATACCTATTCTGCCAACGTCTGTGCCAGATGAGGACTCCAATCCTGCTCATTGCCCTCAAGGAGCTTCCACTCTAGTTGGGTATAGTCGGGAGGAAACAGGAGATAGAGCATAGTGTTCCAAAAAGGCAAGGAGGAGATCTGCCTGGGGAAATCCCGGAAGGCCTCCCAGGGGAGGCGGCACCTTGCTGGGGCTTGAAGAATAATAGGATCTAGTTTGT	CACCTGATCTCAAGACATGAGGGGAACTGGGTACATCTGTAAGTTCCTGTATAACCCTCCCCAGCCCTGACACCCGCACCCTCTTTCAGATGAAGAAATGGCCTCAGAGAGGGACAGTGGCTTGCTCAAGGCAAATCCAGAGAAATGTGGGTGTACAAGGCTCCTTCTGGCTGTGGAGAGGGGGACCAGAGCCCCTGGAGGCCCAGGGCTCTAGGATAGGAGCTGAGAGGGGCAGCAGGGATCCAGACTGGGTAGGGGACCTGGTGATGCCACCTGGACCCAGACTTCTGCTCTTGACAGAGCCGGAACTCCAGAACCAAGCTGAGCCTTGTAGTAGGGGCCCACATCCCTGCCAGAGCCTCAGCTGCCCTGGAACTAGCAATACCCAAACTTTCTTCCTGTGGCTTTTCAATCAGAGCCAGTGAGGAAGGCCTCAGGAGGAGGTAGGGAGGGCCCAGGACATCTCCCAGCCCCTCCCTGGGGGATGGTCTAGGGAAGCTGGCCCTGGCTACCTCTCGTGGCCCCTGGAAGCTGATTCCTGGCTGGATCCTGCTCTGTCCTCAACAAGATTGTGTGTGAGGCTGAAGAGCAGTTTTCTTTCTCATCTGTAAAATGGTGCAGTCATAACAAACACCTCCTACAAGCACAGCATCTGTGAGGGTTTCCTCTCTGTAAAATGGGACAGAGAGGTAGGGGACAGGAAGGGGCTCTGGCAGGTGGAAGTGTGAGGTGTTCATTCATCTTTCTTCATGTCCTCCTTCCGAGGAGCCGGGGATGGTCAGAAACTGTCAGTGCAGCCTGCTTTTGCCCTCATGCCCATTTGCCTCCACGGGGCCCTCACCTACGTGGTGGGGCGCTCTTTCCACGTGTCCCTCCTGGTCCATTTGCCCACCCAGTGAGGCAGGCTCATCCCCTTATTTCCTGACATTTGTGTGGTTGGTGCTTTTAGAGAACTCTCCTTGTGGACTCTGTTCTGCACCATTGTCACAGCCCAGAGAGGGGGGAATGTTAGTCCCAAAGAGGAGAGGGGACTTCCCTAGGACCATCCAGGGGGTGGGAAGCAGAGTGGGTCTCGAACCTTCTCCGATTTGGGAAATCGCCTTCTCCTCTCCCCACCCACCCTTACCCTTCCCTGCTCTCCCTGGGCTACTGTCTCCTGCCCAGCCTCCCACATGCCCCTGTTGGTCTCTACGGATGCGCACAGGGAGGAAAGCAGTGCAGGCTGGGGCCATGGGAACCGCTCAGGGTTGAAGTCCGACTCATTGTATGTGGCCTTCATCTCATGACTTTGCCTCCCTGAGCCTCAGTCTCCTAATCTGTAGAATCATTGTCTCACAGGATTGCACTAAGGATTCAGTAAGAAATGGTATGATTTGCCCTCAGCAAGTGGTAGCATTGAAGTAAAGAGGGCTCAGGGCTTGAAAATAGGGCTCGAAACTTGGCTCTTGCACTTCCTGGCTCTCTGGACTTGGTTATGTGATTGAGCCTCCATGGCCTCCGTGTCTTTGTCTGTCAATGGGTTTGATTAAAGCGTTGACCTCATAGGTTCTTAGGAGGATTAATGAGAACATTTTATGTAAAGCTGCTTACATGGAGCCTTGGTATGTGCCGGAAAGCTTTAGCCCTTTATTAAAAGTGACAGCAGACCCAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACCAGCTACTCGGGAGGCAGAGGCAGGAGAATCGCTTGAACCTGGGGTGCAGAGGTTGCAGTAAGCTGAGCTCGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACTCAGTCTCAAAAAAAAAAAAAAAAAAAGAGTGGCAGTAGTGGTGGGGGAGACCCCCATCCCCCTTGCTGGGGTTTCCTAGGAAAGAAGGCTGGTGAGAGCTGTTGCTGGTGGTGGGCCCTGAGCCGCAGGGTCTGAGGGCCTACCCTGTGCTACCCCAGAGCTGCCTGAGAACTGGACAGACACGCGGGAGACGCTGCTGGAGGGGATGCTGTCAGCCTCAAGTACCTGGGCATGACGCTAGTGGAGCAGCCCAAGGGTGAGGAGCTGTCGGCCGCCGCCATCAAGAGGATCGTGGCTACAGTGAGCACCCCAGTCAGGAAGGGTGGGGGAACCAGGGACCAAGGACCAGCTTCTTCCCAGGGTGCCCTCGTCCCAGCTTGTTACTCCAGTTGGGTGTGTCTGAGCCTGGCCCTGCCCTTCATTCTCCTTCCATCCAGCTTTTGGGCCTTGGCAGAGGGGAACCATTGGACTTGCAAGGTCACGGTTAGTGGCTTCCCTCCAGCCATTATGGCCTCTTCCAGCCTCCCCACCCCCAGCTCAGGCTCCCTACCAATGCATTGGTGACTTATCAGCACCAGGAAGGGTGGGGAGTTTGCTTTCCCTTGACTACCTGCCCAATGGCCTGAGAGACAGCATAGCCCATCAGAGAGCAGATTGCCCCCTCCCTAACTTTGAGCAAGGGTGGGCCTTTTAAATCCACTTCCCTTGGTGGCCTCAGACCCCTCAGCTCAATGGATGGAGCAGAGTACTCAGGAGTCATCCTGCTGGGTTGTGCTAGCTCATTCAGTGCCGAGTCTGCAGGCCCTTCTAGCTGTGTGTCCTTGGGTAAGTCCCTTAGCCTCTCTGAGTCCATCTCTGGGGAGAGGGAGGATGACTCCAGGTCCACGGTGCCTGACAGATAGCTGGTGCTCAGCAGATGCTGCTCCTGTTTCTATTGCAAGAAGGTGCTGGCTGAGTGGTCTTGCCCACACTGCTGCCAGTCACCTGAGCTGAGATGGGCCCCGTGCCTGGGGCTTAGGAACAGTGAAGTGTAAGCCATGAGGGTGGGTCTCAAGTGAGGCTGGCAGACTCCTCTGACTCCTGTCTGCTCCCAAGGCTAAGGCCAGTGGGAAGAAGCTGCAGAAGGTGACTCTGAAGGTGTCGCCACGGGGAATTATCCTGACAGACAACCTCACCAACCAGCTCATTGAGAACGTGTCCATATACAGGTACGCTCAGCATGGGGTTGGCCCATCCACTCTGCCACTTGGGGCAGTGGGTGGAGTATCCCATCTGAATCCAGGCTCTACCACTTCCTACCTGGGTGACATTGGAGCCTCAGTTTCCTCATCTGTAAAATGGGGGTGGGAACAGATCCTGCTGCACAGCGCTGTTAGGAAACGTGGAGTGCACGGCACCTGGCTCATGATGAGCATTTGGTTAAGTGGCAGCTGCTGCTGTCATCATCACCAGTTGCAGAAGACAGCTGAGCCCACCCGTGCCCTTCCCCCCTACTCCCCACCAGCATGCCGCTGAGTCGGGCTTGGAGCAGAGAACTGCAGAGTCACTGCCTTTTCCTTCTGCTGTGAATGCAGCAGCTCAGCTCTGGGTATCTGGCCAGACATTCCAGGGAGGCCTCAGCCAAGGTCTGAAGTCAGAGTATAGATGGTCTCTCTAGTGGGTCCTCTGGTCAGCCCTTAGAGCCTCAGACTATCCCCACCTCTCTCGGCTGGTCAGTTGTAGTTTTTCAGAACTGGAAGGGACAGCTCAGGTCCATTTTACAGATGGAGAAGCTGAGGCCCAGAGAGGGAATTGCCTAAGGCTGCACAGTGAGGTAGTAGCTAAACTGGAACTAGGATATCCGGGCCAGAGCCCTGTCCAGCAGGCTCCCGTCTGCCTGGCATCCCTCCACCCTCTTGCTTTGTCTCTAAGCAGATGGCTCAGCCCGTTGGTGCACAGGCCAGTAGTAGGGTCAGTAGATGTGTGTTGTGGGGGTCTGGCTGATGTCTTCCTCTCACCGGCCTGATCATACCTGCCTTCCTTTAGTCAACAGTTTCAGATACCTATTCTGCCAACGTCTGTGCCAGATGAGGACTCCAATCCTGCTCATTGCCCTCAAGGAGCTTCCACTCTAGTTGGGTATAGTCGGGAGGAAACAGGAGATAGAGCATAGTGTTCCAAAAAGGCAAGGAGGAGATCTGCCTGGGGAAATCCCGGAAGGCCTCCCAGGGGAGGCGGCACCTTGCTGGGGCTTGAAGAATAATAGGATCTAGTTTGTN	pathogenic	5,701
Is the genetic variant on chromosome 1, position 25557238, gene LDLRAP1 (low density lipoprotein receptor adaptor protein 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?	pathogenic; ['Hypercholesterolemia,_familial,_4']	GGCAGCTGCTGCTGTCATCATCACCAGTTGCAGAAGACAGCTGAGCCCACCCGTGCCCTTCCCCCCTACTCCCCACCAGCATGCCGCTGAGTCGGGCTTGGAGCAGAGAACTGCAGAGTCACTGCCTTTTCCTTCTGCTGTGAATGCAGCAGCTCAGCTCTGGGTATCTGGCCAGACATTCCAGGGAGGCCTCAGCCAAGGTCTGAAGTCAGAGTATAGATGGTCTCTCTAGTGGGTCCTCTGGTCAGCCCTTAGAGCCTCAGACTATCCCCACCTCTCTCGGCTGGTCAGTTGTAGTTTTTCAGAACTGGAAGGGACAGCTCAGGTCCATTTTACAGATGGAGAAGCTGAGGCCCAGAGAGGGAATTGCCTAAGGCTGCACAGTGAGGTAGTAGCTAAACTGGAACTAGGATATCCGGGCCAGAGCCCTGTCCAGCAGGCTCCCGTCTGCCTGGCATCCCTCCACCCTCTTGCTTTGTCTCTAAGCAGATGGCTCAGCCCGTTGGTGCACAGGCCAGTAGTAGGGTCAGTAGATGTGTGTTGTGGGGGTCTGGCTGATGTCTTCCTCTCACCGGCCTGATCATACCTGCCTTCCTTTAGTCAACAGTTTCAGATACCTATTCTGCCAACGTCTGTGCCAGATGAGGACTCCAATCCTGCTCATTGCCCTCAAGGAGCTTCCACTCTAGTTGGGTATAGTCGGGAGGAAACAGGAGATAGAGCATAGTGTTCCAAAAAGGCAAGGAGGAGATCTGCCTGGGGAAATCCCGGAAGGCCTCCCAGGGGAGGCGGCACCTTGCTGGGGCTTGAAGAATAATAGGATCTAGTTTGTTGTTACCAAGGACCCAGTAACATTTAGAGCAGGAAGCTGGACCCCCTGGGATGGAGAAGAGGTAGGCAGGGACCTAACACCTTCACGCTCTGCCCACCGGGGTGTTGATGCCTGTGATTGAAGCTGGGGCCACATGGTTGAGGGGTGAGTCTATGGCGCTCCTGTCCCACCTCTGGGTTGAGGGGTGAGTCTGTGGTGCTCCTGCCCCACCTCTGGGCTACCGGCCCCTCCCCGATTGAGACTCTGAGGCTGACTGGAGGCAACGAGGAGGGACCAGACAAGTGAGGGAGGGTGGGAGGCCGAGGGCTCGGGTGGCCCCTAGGTTACAGGTGCGACTGGGGGCAGAGAGGGTGCTCCATGCAGAGGGAGTTGCTGTGTGTCTCCTCCCGGGCCCACTGGGGCTCCTTGTTGGGTCCTCGTCACACACGCACCCCACCCCTACTCCCAGCTCTTCACCCCTGGCCACAGCTCCAGAACTTGCAAGTGTCCCAGTCACCCTGAGAGAGATGGACCTGAATCTCACCAGACCTCTGGGCAGGGGCATGGATCGGAGGGCAGGTGGGGTGGGGGAGGCCAGGTGAAGGGCATTGGTGAGCAGGGGAGTGTCCTGCTTTCTGCTTCCCCTTCTGGCCAGTTGGCACACAGCCTTAAGAGGCAGCATGGCAGTCATGGCCTCTGGAGTCCTACAAGTGAGTTCAGGTCTGGGCTCAGGTCTTTAGCCTCAGTTTACTTCATCTGAAAAACATGGATAGTGATAGAACCCGTCTCAGAGGGTAGCTTTGAGAATCACATGAGGTGAGGTCTAGAAAGCTCTTGGCACATTGCCTGGTATGTGGTAAGGGTTCAGCTATTACTGTTTTGGGGTGTGGCTCAGTGTGGGATGGGAGGGAGAGGGGGAAGTGCCCTGCTTCCAGTCTTTACCCCATTCCTTCCTTCCTGCCTGGCCTGGGCCCCTCCTGCACAGATGGCCTAGGTACCCAGCCTGGAGGCCAAGGCTGGATTCCCAGAGTCTGCCCTGGTGGAGTGGGAATAGCAGGTTCTCTGCAACTCAGGGGAGCTGCCCTGCAGGGCTTCCCACATGTGCTCAGGCCCCTGTGCCAGGTCTGGTGATGCTTCCTCCTTGCCTTTCAGGATCTCCTATTGCACAGCAGACAAGATGCACGACAAGGTGTTTGCATACATCGCCCAGAGCCAGCACAACCAGAGCCTCGAGTGCCACGCCTTCCTCTGCACCAAGCGGAAGATGGTCAGCGGGGAGGGCTGGGGCGGGGACAGGGTCCAGTGGCCTTGGCAGCCTTGCTCTGGGTGGGGGGCTGTCTGGTGTGGGAGGCAGGACCCAAAGGTGACCATTACTTAAGAAGAGGGTGAAATCTCTGGGAACCCCAAGTGGGTGCCGAGAGCTAAGGGGTACAGTGGTGGGGCTGCAGGCAGGCAGGTGAACCGCCGGTCAGCTTTGTGTGGGCAGTAGCTGGCCCATGTCCCCAGTGTGTGTCTGGGCCTGTTCTCTCTGTAACGGGATTTGCTGGGTTGAGATTGTTTTGGATCTCCTGTCTTTAATATGGTCTAGGGATGCAGGGCCTTCTGGTGATTGGTCCTCGGAAATGGGAGATCAGGGGGGCCTAGGGTGGAAGGCAAAGGCGAGAGCCGTCAGAGAACCAGGCTTGCTGTGACTGGAGTGTGGAGGGCAATGGCTGTTTCTTGGTGCCTCCTGTGAGTTCATTCCAGCTGTGACCAGAGTGTGGAGGACAGTGACCGTCTCTCGGTGCCTCCTGTGTGTGCATTCTAGTGCTAGGCTTCCAGGTCTTCACTCGTTTAATTCTCACGGCTCTGCAAGGTGGCAACTGTTACTCTCTCCATTTTTTTTTCTTCTTTTTTTTAAAGTTTTAATGAGGAAACAGACTCCCAGAGGCCAGCTATCTTGCTGTCAGGGTTAGAGTGGGGGTTTAAACCCACGTTTCTTCCCCTCCCTGCGTGACTGGGGAGTTCAGAGCTCCTTGTCTCATTTCCAGGACACCCCCTGACCACATCTTAGCTGGGATGAGTGGGAACCTTGGTGGTCACGGGGGATTTGTCCTGAATTTGGGGGCAAGAAGTGGAGTGGGTCAACCTTTGGCATTGCAGCTTTTGTTTCTGAGACCCCCAGGATCTGAGCATTCTCCCTATAAGGTGCTTCCTGACATCCATTGATGTAGCATTGACACCTGTTAACCTCTGTTGACAGCTCTGAGCCCCAGTCCCCATGCCCTATAGCCCTTGGAACCTAGGAGACAAGATCCCCTTCCCTCCCCTGTCATCAAAGGACATGTCAGGTACATCACAGTCTTTGTGGTCCCCAGGCTTCCTGCTGCCCATCAGGACACACTTTAGATATTGTGTAAGTTGTAACAAATGATCGCAAATTTAGTGGCTTAAAACACAAATGTATTCTCTTATGGAGAAGAAAAATGTATTCTGTGACAGAAGTAGATCAGGAGTCTAAACTAGGTCGGCAGGATTGTGTTTTTTTCTGGAGGTTCTGGGGGGAATCCATTTCCTTACCTTTTCTACCTCCCAGAGACTGATCACCTGCATTTCCAGGTTTGTGGGCCTGTCCTCATCTTCCGAGCCAGCAATGTAGCATCTTCTGGTCTCCTGATTTCATCGTCACATTGCTGCTTTTAGCTCTGACTCTCCTACCCCGCTCAGCACTCCTTCTGATGACATTTGGACACTCTGAGTAATCTGGGATAATCTCCATCGCCACATCCTTAACTCACTTCTGTAAAGCCCGTTTGCTGTGTAAGGCAGCATTCACGGGTCTCAGGGATTAGGATGTGGACATCTTGGGGGCGGACACACGATTCAGCCCACCACAGGTGTCATGGAAGAGGCACTGTAGGAGGAGACAGTCTAGCGGTCTCCTGGCTGATTTGCTGTGTTACCTTGGAGAAGATCCTGCCTTTCTCTGGGCTGCTTGCCTATCAGCAGAATGAGAAGGTTGCCTCAGTGACCTCCAGGGTTGTTCTGAAAGGCCCCGGGTTCTTTTGAACACCTTGTTTCTTTCCTGCAGACTCAGTGTCACTGGCCACTTGCCTCGTGAGGTCCCAGGGCTCCAAGTTGCTGTGGCATCTCCTGTGAGTTCCCACAGATGTGACTCGTGGCTTTGTCTTTTAGGAGGCCACACAGACTTAAAAATACAGCTCCTTATGTCCCCATTGTTCATCTCTTCCTGCCCGCTGACCAGGGCAGGCCCTGGGCAGGGACAGCTGGCCCTGGGTGGGAGGG	GGCAGCTGCTGCTGTCATCATCACCAGTTGCAGAAGACAGCTGAGCCCACCCGTGCCCTTCCCCCCTACTCCCCACCAGCATGCCGCTGAGTCGGGCTTGGAGCAGAGAACTGCAGAGTCACTGCCTTTTCCTTCTGCTGTGAATGCAGCAGCTCAGCTCTGGGTATCTGGCCAGACATTCCAGGGAGGCCTCAGCCAAGGTCTGAAGTCAGAGTATAGATGGTCTCTCTAGTGGGTCCTCTGGTCAGCCCTTAGAGCCTCAGACTATCCCCACCTCTCTCGGCTGGTCAGTTGTAGTTTTTCAGAACTGGAAGGGACAGCTCAGGTCCATTTTACAGATGGAGAAGCTGAGGCCCAGAGAGGGAATTGCCTAAGGCTGCACAGTGAGGTAGTAGCTAAACTGGAACTAGGATATCCGGGCCAGAGCCCTGTCCAGCAGGCTCCCGTCTGCCTGGCATCCCTCCACCCTCTTGCTTTGTCTCTAAGCAGATGGCTCAGCCCGTTGGTGCACAGGCCAGTAGTAGGGTCAGTAGATGTGTGTTGTGGGGGTCTGGCTGATGTCTTCCTCTCACCGGCCTGATCATACCTGCCTTCCTTTAGTCAACAGTTTCAGATACCTATTCTGCCAACGTCTGTGCCAGATGAGGACTCCAATCCTGCTCATTGCCCTCAAGGAGCTTCCACTCTAGTTGGGTATAGTCGGGAGGAAACAGGAGATAGAGCATAGTGTTCCAAAAAGGCAAGGAGGAGATCTGCCTGGGGAAATCCCGGAAGGCCTCCCAGGGGAGGCGGCACCTTGCTGGGGCTTGAAGAATAATAGGATCTAGTTTGTTGTTACCAAGGACCCAGTAACATTTAGAGCAGGAAGCTGGACCCCCTGGGATGGAGAAGAGGTAGGCAGGGACCTAACACCTTCACGCTCTGCCCACCGGGGTGTTGATGCCTGTGATTGAAGCTGGGGCCACATGGTTGAGGGGTGAGTCTATGGCGCTCCTGTCCCACCTCTGGGTTGAGGGGTGAGTCTGTGGTGCTCCTGCCCCACCTCTGGGCTACCGGCCCCTCCCCGATTGAGACTCTGAGGCTGACTGGAGGCAACGAGGAGGGACCAGACAAGTGAGGGAGGGTGGGAGGCCGAGGGCTCGGGTGGCCCCTAGGTTACAGGTGCGACTGGGGGCAGAGAGGGTGCTCCATGCAGAGGGAGTTGCTGTGTGTCTCCTCCCGGGCCCACTGGGGCTCCTTGTTGGGTCCTCGTCACACACGCACCCCACCCCTACTCCCAGCTCTTCACCCCTGGCCACAGCTCCAGAACTTGCAAGTGTCCCAGTCACCCTGAGAGAGATGGACCTGAATCTCACCAGACCTCTGGGCAGGGGCATGGATCGGAGGGCAGGTGGGGTGGGGGAGGCCAGGTGAAGGGCATTGGTGAGCAGGGGAGTGTCCTGCTTTCTGCTTCCCCTTCTGGCCAGTTGGCACACAGCCTTAAGAGGCAGCATGGCAGTCATGGCCTCTGGAGTCCTACAAGTGAGTTCAGGTCTGGGCTCAGGTCTTTAGCCTCAGTTTACTTCATCTGAAAAACATGGATAGTGATAGAACCCGTCTCAGAGGGTAGCTTTGAGAATCACATGAGGTGAGGTCTAGAAAGCTCTTGGCACATTGCCTGGTATGTGGTAAGGGTTCAGCTATTACTGTTTTGGGGTGTGGCTCAGTGTGGGATGGGAGGGAGAGGGGGAAGTGCCCTGCTTCCAGTCTTTACCCCATTCCTTCCTTCCTGCCTGGCCTGGGCCCCTCCTGCACAGATGGCCTAGGTACCCAGCCTGGAGGCCAAGGCTGGATTCCCAGAGTCTGCCCTGGTGGAGTGGGAATAGCAGGTTCTCTGCAACTCAGGGGAGCTGCCCTGCAGGGCTTCCCACATGTGCTCAGGCCCCTGTGCCAGGTCTGGTGATGCTTCCTCCTTGCCTTTCAGGATCTCCTATTGCACAGCAGACAAGATGCACGACAAGGTGTTTGCATACATCGCCCAGAGCCAGCACAACCAGAGCCTCGAGTGCCAACGCCTTCCTCTGCACCAAGCGGAAGATGGTCAGCGGGGAGGGCTGGGGCGGGGACAGGGTCCAGTGGCCTTGGCAGCCTTGCTCTGGGTGGGGGGCTGTCTGGTGTGGGAGGCAGGACCCAAAGGTGACCATTACTTAAGAAGAGGGTGAAATCTCTGGGAACCCCAAGTGGGTGCCGAGAGCTAAGGGGTACAGTGGTGGGGCTGCAGGCAGGCAGGTGAACCGCCGGTCAGCTTTGTGTGGGCAGTAGCTGGCCCATGTCCCCAGTGTGTGTCTGGGCCTGTTCTCTCTGTAACGGGATTTGCTGGGTTGAGATTGTTTTGGATCTCCTGTCTTTAATATGGTCTAGGGATGCAGGGCCTTCTGGTGATTGGTCCTCGGAAATGGGAGATCAGGGGGGCCTAGGGTGGAAGGCAAAGGCGAGAGCCGTCAGAGAACCAGGCTTGCTGTGACTGGAGTGTGGAGGGCAATGGCTGTTTCTTGGTGCCTCCTGTGAGTTCATTCCAGCTGTGACCAGAGTGTGGAGGACAGTGACCGTCTCTCGGTGCCTCCTGTGTGTGCATTCTAGTGCTAGGCTTCCAGGTCTTCACTCGTTTAATTCTCACGGCTCTGCAAGGTGGCAACTGTTACTCTCTCCATTTTTTTTTCTTCTTTTTTTTAAAGTTTTAATGAGGAAACAGACTCCCAGAGGCCAGCTATCTTGCTGTCAGGGTTAGAGTGGGGGTTTAAACCCACGTTTCTTCCCCTCCCTGCGTGACTGGGGAGTTCAGAGCTCCTTGTCTCATTTCCAGGACACCCCCTGACCACATCTTAGCTGGGATGAGTGGGAACCTTGGTGGTCACGGGGGATTTGTCCTGAATTTGGGGGCAAGAAGTGGAGTGGGTCAACCTTTGGCATTGCAGCTTTTGTTTCTGAGACCCCCAGGATCTGAGCATTCTCCCTATAAGGTGCTTCCTGACATCCATTGATGTAGCATTGACACCTGTTAACCTCTGTTGACAGCTCTGAGCCCCAGTCCCCATGCCCTATAGCCCTTGGAACCTAGGAGACAAGATCCCCTTCCCTCCCCTGTCATCAAAGGACATGTCAGGTACATCACAGTCTTTGTGGTCCCCAGGCTTCCTGCTGCCCATCAGGACACACTTTAGATATTGTGTAAGTTGTAACAAATGATCGCAAATTTAGTGGCTTAAAACACAAATGTATTCTCTTATGGAGAAGAAAAATGTATTCTGTGACAGAAGTAGATCAGGAGTCTAAACTAGGTCGGCAGGATTGTGTTTTTTTCTGGAGGTTCTGGGGGGAATCCATTTCCTTACCTTTTCTACCTCCCAGAGACTGATCACCTGCATTTCCAGGTTTGTGGGCCTGTCCTCATCTTCCGAGCCAGCAATGTAGCATCTTCTGGTCTCCTGATTTCATCGTCACATTGCTGCTTTTAGCTCTGACTCTCCTACCCCGCTCAGCACTCCTTCTGATGACATTTGGACACTCTGAGTAATCTGGGATAATCTCCATCGCCACATCCTTAACTCACTTCTGTAAAGCCCGTTTGCTGTGTAAGGCAGCATTCACGGGTCTCAGGGATTAGGATGTGGACATCTTGGGGGCGGACACACGATTCAGCCCACCACAGGTGTCATGGAAGAGGCACTGTAGGAGGAGACAGTCTAGCGGTCTCCTGGCTGATTTGCTGTGTTACCTTGGAGAAGATCCTGCCTTTCTCTGGGCTGCTTGCCTATCAGCAGAATGAGAAGGTTGCCTCAGTGACCTCCAGGGTTGTTCTGAAAGGCCCCGGGTTCTTTTGAACACCTTGTTTCTTTCCTGCAGACTCAGTGTCACTGGCCACTTGCCTCGTGAGGTCCCAGGGCTCCAAGTTGCTGTGGCATCTCCTGTGAGTTCCCACAGATGTGACTCGTGGCTTTGTCTTTTAGGAGGCCACACAGACTTAAAAATACAGCTCCTTATGTCCCCATTGTTCATCTCTTCCTGCCCGCTGACCAGGGCAGGCCCTGGGCAGGGACAGCTGGCCCTGGGTGGGAGG	pathogenic	5,720
The mutation impacting LDLRAP1 (low density lipoprotein receptor adaptor protein 1) on chromosome 1 at position 25562648: benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_4']	TCCCCCATGACCATTGGCATCTTGGAGTGATCCTTGTGCAAGGTTTTTGCTTCTGGGGCAGCAGGGCTGCTGGGGGGCATGTGGCTGTCTTGGTTTGAGTTTCTGGCCCCTTTTGAGCCATGAGCAGCCTGGTTCCTGGGAACAAGGAATGTGAAAAACTGGGCAAGGTAGCATCCACTCAGGATAATAAGGCAGACCCGAAGGCCAGAGGCAGTCAGGAGGGGTGGGCATCCCGCCTGGGCAGGCCTGAGCAGTCCCTCCACCTAATGCTGGTCCTCGGATCCCTGCAGCCACCCCAGGAAGCAGGGCCCACCCCACTCCCAGTCCCTGCCCAGCCTGGGCTTGCAGCTACCTGCACACATCCACCTCTTGGGTTGTATTCAGTTTAACTTACAGCTTGGGACTTCAGGGCAAAAAGGTAGGAATGTATGCAAGTGAACAATCAGATTTATGCAACTACAGTCTAAGCTTGTGTCTCCAGATTTCCAGCAGGCTTAAATAATGGCGTTTTCATATCCCTGCCACATTGGGTGTCCAGCCCTTGCTTGGGTGGATAGTGATCTGACTTGGGCTGGTAATTAGCCCATATTTTTAGTTCATGGGCAATTCTCAATGGTAACTGGGTCTATTAAACTTGATTCAGATATGACAGCTTAAATTGTAAACAGCTGCGAAGAGTTTCATACTTAATTACCATATTTAAGTTTTGCCATAAAGTGCCTGTACTTCCATCAAAAATGTAAATGTTGGAGACATTCAAATGAGGTTTTATACTTTCGTGAAGTGTAATTGGCACGGATCAGTCAGTTTGTTTAGGAATTTTAAATATTTTTTTAAAAGGAGTTTTAAAGGCAGTGGCCACAGGTCCATTTCTCAATTAAATTGAGTTGTCTGGGGGAGGGCAGGGAGCGGGGCTGAGGCTGGTGAGGCCTGAACTTGTAGACTTGAAAGAGGCTGGTGCTTTCTTCTCTCAGCCAGGGCTTCAGAAGGAAGCTAGATGTTTCCGGCTATAGCTACGAACTCTGGGACTTCCACTCCCAGAAGCTGAGCTGATTAACCCTGGACTGGAATGGCTGAGAGAGGAAGGTGTTGAGATGAATATGGGCTGGGGATAGGTCCTGGGTGGAATGAGGCCTGCACCTCAGGTGAATGTAATTCACCCAGCATTGTTGCCACCTCTGGGAGGCTTTGGCCTGCTCCCGAGGGCAGGGGTGTTCAGATTGATTCTTGCTTTTAGGGTGCACAAAGCTGGGGGAAACACAGGCAGGGGAGCCAGTGACACTTTCACATGCATAGTGCCAGAGGGAGGTGGGTGGGGCTCGAGGAGTCTGGGACTGGTGACAGGAGAGGTGGTGACATCTGAGTTGGGTTTGGAGGGGTGAGGGAGAGTTCCCCTGGGGTGAAGGGCCGAGGTGTGGCCCTTCCTTACAGGTGGGTTATAGCACTGACCGGTTTTGGTCCCCGGGCCTTCATTGACATCTTGCTCCTATCAGGAAATTGACAAGCCTTCTACTCTCTTTGTGGGATCCAGTTATGGTCCCAACCGGAACCTAACTTTCACCTCTCTGGCTGTGGCTCATTTGGGGCAATGGCTGGGCCCTTCCAATTCTGGCTTTTCTGTTCTCCAATTCCAAGGGCTAAGTCCACAGGTAATTAGGGAGGGTTTCTTGGAGGAAGTAAGCCTCACAGTTCATTGAATTCAGGGAAGCCCAAAGGGGAAGGAAAAGACCTGGAGAAGAACAGCCTTTGCAGGCAGGGGCCCTAGAGTGAGAGTGAGAACTTTGGTGGGGCCAGAGATAGTAAAGATGGGGACTCTACTGCCTCTGCGAGGCTATGGCCTTATGACACCCCAGGCTGCTTTGGAGACCTGGGAAGGGCCAGGACCCTGCTCTGCCCAGCAGGCATTCCAGAGCCTGGGATGGAGCTGCAGAAGCTGCAGGGAGGGAGCCAGGGGGCCTGGCCTGGAGGCCCCAGCCCTCCAGTGCAGACTTGCTCTGCCCTGGCTGACACTGCACCCCTCCCCATCCCCACTTCCTGTTTTCAGGCACAGGCTGTTACCCTCACCGTAGCCCAGGCCTTCAAAGTCGCCTTTGAGTTTTGGCAGGTGTCCAAGGAAGGTGAGACTTTGCATCTACATTGTGGGTGTGGTGGGAGGTGGGGAGACACATAAAGGCCCTGGGGTCAGACCTGGACCGACTTCCTGCCTCATCACCCACCTGGCTTGTGACTGTGAGCAGGTCCCTTCACCGCTCAGAGTCTCGGTTTTCCCATCTGAAAAATGGGAACAGCCGTCTCCCTCCCCAAAGGTGCTTGTGAGGATTAACTGACATCCGAAAGGTTTCTTTCCTCCCGGCTGGAAACCTGAAACTGCCCCTTGAGGTTGGCCACCGCTAATCACCCCTGCCCGGTGATTGCTGGGGACAGAGTGCTGGGGTCTGAGGCTCCAACATGTTGTGCCTTGGTCCTGCAGAGAAAGAGAAGAGGGACAAAGCCAGCCAAGAGGGAGGGGACGTCCTGGGGGCCCGCCAAGACTGCACCCCCTCCTTGAAGAGCTGTGAGTCCTGACGGGGAAGGGGGATTGGCCATGCGGTGTTGGGGTTGCGCTTCACCCAGGGGGGTCCCACTCCTGCCTGGGCTGGGAGAGCCTCTTGGTTTTTCACTTGTGTTTTGTTAAATAAATAATACACGTTCATTACAGATCAATTAGAAAATGTAGATAAGGGGAAGAAATAACTCATTTTAGTACATTTTCTTCTAGATATGTCCCTATGCAAATATATAAATATGCGTCTATCTTTCTATATACTTAACATAGTATTGTGTGGTTGCTTAAGAAAACTTAACTATTGTGAATACAAAAGTTTCAGTCTAAGCCATTAGTCAGGTTCTCACTCTGTGGGCAGCTGCGCATCTGCTGTGGGGAGGTGCCAGGGCCGGGCTCTGCTGGGAGGCCTGGGCAAGGCCACATCAGAGGGGAGGGTCAGGGCCAGGACAGCCCAGGGAGGGGGCCAGGAAGGAAGAGGCTGATCTCCCACTGACAACCTGACCGGATCCCTCACAGTGGTCGCCACTGGGAACCTGCTGGACTTAGAGGAGACAGCTAAGGCCCCGCTGTCCACGGTCAGCGCCAACACCACCAACATGGACGAGGTGCCGCGGCCACAAGCCTTGAGTGGCAGCAGTGTTGTCTGGGTGAGTGGTTGTGTGGCCAGCAGATCGGTGATCCTCAGCCTGACCTCTGGGTGAGCCTGGGGCTGCTCCAGGGACCAGGCCCTGGGACCCGTGACTTGTGGGCCTCTGGGAGGACCAGACCCAGCCCGGTAGTGCCCAGGCGCAGGATAGGGGATGAACAATGTCCCTTTTGAACCTGAGGCTGCATCCCCAACAGGCTTGGCTCCCAGCACAGCTGTCTCCTCACAATGCTTGGCCTCTTGGCCTGAGCGTCCACGGCTCTGCCCACCACAAGACCAGCCAAAGGCGCCCTTGTTCTTGGTGTGGCAGAGCTCGCTCCTACCACCCCTCCCCCTCAGCCGCCTGAATGAGGACCCAGAGACTTGGGCAGTCACCAGCTTGGTCCCTGACTCCCTCAGGGACTCAGGGCAAGCCCCCTGACCTCTCTGTCTCAGCTTTTTCATCTCAGTAAGGGTGATGACCTCTGCCAACGGAATCTCCCCGAGGAACCTGAAATTTAATTTTAATTTTTCATTTGGAAATAATTTCAGACTGTGTTACAAAATTAGTACAGAGAATTCCTGTTCACCCGTCATCCAGATTCCCCAATTGTTAACATCTTGCATGACCACATTACACTGGTCAGAATCAGGAAACAAACACGATACTGTGCTGTTATATAATCTATAGAACTTACACATTTCTCCAGGTGCCCCTTCAGTGTCCTGTTTCTGGCCCAGGATCCATTGCAGAATCACATGTTAACTTGTCGTCTCTTTAATTTTTAAAAATCTGGGTACTGGGGGCTCCCCTGGTGTCCCTCGAGCCTGTTCTCTGCTGTTTGGGAACCACCCTTGCCACTTGCCCATCCTCACCAGAAGGCCATGGAGGGACCTCACCTGTCGCTTTTCTGCTGAGGCTGTGG	TCCCCCATGACCATTGGCATCTTGGAGTGATCCTTGTGCAAGGTTTTTGCTTCTGGGGCAGCAGGGCTGCTGGGGGGCATGTGGCTGTCTTGGTTTGAGTTTCTGGCCCCTTTTGAGCCATGAGCAGCCTGGTTCCTGGGAACAAGGAATGTGAAAAACTGGGCAAGGTAGCATCCACTCAGGATAATAAGGCAGACCCGAAGGCCAGAGGCAGTCAGGAGGGGTGGGCATCCCGCCTGGGCAGGCCTGAGCAGTCCCTCCACCTAATGCTGGTCCTCGGATCCCTGCAGCCACCCCAGGAAGCAGGGCCCACCCCACTCCCAGTCCCTGCCCAGCCTGGGCTTGCAGCTACCTGCACACATCCACCTCTTGGGTTGTATTCAGTTTAACTTACAGCTTGGGACTTCAGGGCAAAAAGGTAGGAATGTATGCAAGTGAACAATCAGATTTATGCAACTACAGTCTAAGCTTGTGTCTCCAGATTTCCAGCAGGCTTAAATAATGGCGTTTTCATATCCCTGCCACATTGGGTGTCCAGCCCTTGCTTGGGTGGATAGTGATCTGACTTGGGCTGGTAATTAGCCCATATTTTTAGTTCATGGGCAATTCTCAATGGTAACTGGGTCTATTAAACTTGATTCAGATATGACAGCTTAAATTGTAAACAGCTGCGAAGAGTTTCATACTTAATTACCATATTTAAGTTTTGCCATAAAGTGCCTGTACTTCCATCAAAAATGTAAATGTTGGAGACATTCAAATGAGGTTTTATACTTTCGTGAAGTGTAATTGGCACGGATCAGTCAGTTTGTTTAGGAATTTTAAATATTTTTTTAAAAGGAGTTTTAAAGGCAGTGGCCACAGGTCCATTTCTCAATTAAATTGAGTTGTCTGGGGGAGGGCAGGGAGCGGGGCTGAGGCTGGTGAGGCCTGAACTTGTAGACTTGAAAGAGGCTGGTGCTTTCTTCTCTCAGCCAGGGCTTCAGAAGGAAGCTAGATGTTTCCGGCTATAGCTACGAACTCTGGGACTTCCACTCCCAGAAGCTGAGCTGATTAACCCTGGACTGGAATGGCTGAGAGAGGAAGGTGTTGAGATGAATATGGGCTGGGGATAGGTCCTGGGTGGAATGAGGCCTGCACCTCAGGTGAATGTAATTCACCCAGCATTGTTGCCACCTCTGGGAGGCTTTGGCCTGCTCCCGAGGGCAGGGGTGTTCAGATTGATTCTTGCTTTTAGGGTGCACAAAGCTGGGGGAAACACAGGCAGGGGAGCCAGTGACACTTTCACATGCATAGTGCCAGAGGGAGGTGGGTGGGGCTCGAGGAGTCTGGGACTGGTGACAGGAGAGGTGGTGACATCTGAGTTGGGTTTGGAGGGGTGAGGGAGAGTTCCCCTGGGGTGAAGGGCCGAGGTGTGGCCCTTCCTTACAGGTGGGTTATAGCACTGACCGGTTTTGGTCCCCGGGCCTTCATTGACATCTTGCTCCTATCAGGAAATTGACAAGCCTTCTACTCTCTTTGTGGGATCCAGTTATGGTCCCAACCGGAACCTAACTTTCACCTCTCTGGCTGTGGCTCATTTGGGGCAATGGCTGGGCCCTTCCAATTCTGGCTTTTCTGTTCTCCAATTCCAAGGGCTAAGTCCACAGGTAATTAGGGAGGGTTTCTTGGAGGAAGTAAGCCTCACAGTTCATTGAATTCAGGGAAGCCCAAAGGGGAAGGAAAAGACCTGGAGAAGAACAGCCTTTGCAGGCAGGGGCCCTAGAGTGAGAGTGAGAACTTTGGTGGGGCCAGAGATAGTAAAGATGGGGACTCTACTGCCTCTGCGAGGCTATGGCCTTATGACACCCCAGGCTGCTTTGGAGACCTGGGAAGGGCCAGGACCCTGCTCTGCCCAGCAGGCATTCCAGAGCCTGGGATGGAGCTGCAGAAGCTGCAGGGAGGGAGCCAGGGGGCCTGGCCTGGAGGCCCCAGCCCTCCAGTGCAGACTTGCTCTGCCCTGGCTGACACTGCACCCCTCCCCATCCCCACTTCCTGTTTTCAGGCACAGCTGTTACCCTCACCGTAGCCCAGGCCTTCAAAGTCGCCTTTGAGTTTTGGCAGGTGTCCAAGGAAGGTGAGACTTTGCATCTACATTGTGGGTGTGGTGGGAGGTGGGGAGACACATAAAGGCCCTGGGGTCAGACCTGGACCGACTTCCTGCCTCATCACCCACCTGGCTTGTGACTGTGAGCAGGTCCCTTCACCGCTCAGAGTCTCGGTTTTCCCATCTGAAAAATGGGAACAGCCGTCTCCCTCCCCAAAGGTGCTTGTGAGGATTAACTGACATCCGAAAGGTTTCTTTCCTCCCGGCTGGAAACCTGAAACTGCCCCTTGAGGTTGGCCACCGCTAATCACCCCTGCCCGGTGATTGCTGGGGACAGAGTGCTGGGGTCTGAGGCTCCAACATGTTGTGCCTTGGTCCTGCAGAGAAAGAGAAGAGGGACAAAGCCAGCCAAGAGGGAGGGGACGTCCTGGGGGCCCGCCAAGACTGCACCCCCTCCTTGAAGAGCTGTGAGTCCTGACGGGGAAGGGGGATTGGCCATGCGGTGTTGGGGTTGCGCTTCACCCAGGGGGGTCCCACTCCTGCCTGGGCTGGGAGAGCCTCTTGGTTTTTCACTTGTGTTTTGTTAAATAAATAATACACGTTCATTACAGATCAATTAGAAAATGTAGATAAGGGGAAGAAATAACTCATTTTAGTACATTTTCTTCTAGATATGTCCCTATGCAAATATATAAATATGCGTCTATCTTTCTATATACTTAACATAGTATTGTGTGGTTGCTTAAGAAAACTTAACTATTGTGAATACAAAAGTTTCAGTCTAAGCCATTAGTCAGGTTCTCACTCTGTGGGCAGCTGCGCATCTGCTGTGGGGAGGTGCCAGGGCCGGGCTCTGCTGGGAGGCCTGGGCAAGGCCACATCAGAGGGGAGGGTCAGGGCCAGGACAGCCCAGGGAGGGGGCCAGGAAGGAAGAGGCTGATCTCCCACTGACAACCTGACCGGATCCCTCACAGTGGTCGCCACTGGGAACCTGCTGGACTTAGAGGAGACAGCTAAGGCCCCGCTGTCCACGGTCAGCGCCAACACCACCAACATGGACGAGGTGCCGCGGCCACAAGCCTTGAGTGGCAGCAGTGTTGTCTGGGTGAGTGGTTGTGTGGCCAGCAGATCGGTGATCCTCAGCCTGACCTCTGGGTGAGCCTGGGGCTGCTCCAGGGACCAGGCCCTGGGACCCGTGACTTGTGGGCCTCTGGGAGGACCAGACCCAGCCCGGTAGTGCCCAGGCGCAGGATAGGGGATGAACAATGTCCCTTTTGAACCTGAGGCTGCATCCCCAACAGGCTTGGCTCCCAGCACAGCTGTCTCCTCACAATGCTTGGCCTCTTGGCCTGAGCGTCCACGGCTCTGCCCACCACAAGACCAGCCAAAGGCGCCCTTGTTCTTGGTGTGGCAGAGCTCGCTCCTACCACCCCTCCCCCTCAGCCGCCTGAATGAGGACCCAGAGACTTGGGCAGTCACCAGCTTGGTCCCTGACTCCCTCAGGGACTCAGGGCAAGCCCCCTGACCTCTCTGTCTCAGCTTTTTCATCTCAGTAAGGGTGATGACCTCTGCCAACGGAATCTCCCCGAGGAACCTGAAATTTAATTTTAATTTTTCATTTGGAAATAATTTCAGACTGTGTTACAAAATTAGTACAGAGAATTCCTGTTCACCCGTCATCCAGATTCCCCAATTGTTAACATCTTGCATGACCACATTACACTGGTCAGAATCAGGAAACAAACACGATACTGTGCTGTTATATAATCTATAGAACTTACACATTTCTCCAGGTGCCCCTTCAGTGTCCTGTTTCTGGCCCAGGATCCATTGCAGAATCACATGTTAACTTGTCGTCTCTTTAATTTTTAAAAATCTGGGTACTGGGGGCTCCCCTGGTGTCCCTCGAGCCTGTTCTCTGCTGTTTGGGAACCACCCTTGCCACTTGCCCATCCTCACCAGAAGGCCATGGAGGGACCTCACCTGTCGCTTTTCTGCTGAGGCTGTGGN	pathogenic	5,724
Considering the variant on chromosome 1, location 25563135, involving gene LDLRAP1 (low density lipoprotein receptor adaptor protein 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?	pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_4']	AGCAGGCTTAAATAATGGCGTTTTCATATCCCTGCCACATTGGGTGTCCAGCCCTTGCTTGGGTGGATAGTGATCTGACTTGGGCTGGTAATTAGCCCATATTTTTAGTTCATGGGCAATTCTCAATGGTAACTGGGTCTATTAAACTTGATTCAGATATGACAGCTTAAATTGTAAACAGCTGCGAAGAGTTTCATACTTAATTACCATATTTAAGTTTTGCCATAAAGTGCCTGTACTTCCATCAAAAATGTAAATGTTGGAGACATTCAAATGAGGTTTTATACTTTCGTGAAGTGTAATTGGCACGGATCAGTCAGTTTGTTTAGGAATTTTAAATATTTTTTTAAAAGGAGTTTTAAAGGCAGTGGCCACAGGTCCATTTCTCAATTAAATTGAGTTGTCTGGGGGAGGGCAGGGAGCGGGGCTGAGGCTGGTGAGGCCTGAACTTGTAGACTTGAAAGAGGCTGGTGCTTTCTTCTCTCAGCCAGGGCTTCAGAAGGAAGCTAGATGTTTCCGGCTATAGCTACGAACTCTGGGACTTCCACTCCCAGAAGCTGAGCTGATTAACCCTGGACTGGAATGGCTGAGAGAGGAAGGTGTTGAGATGAATATGGGCTGGGGATAGGTCCTGGGTGGAATGAGGCCTGCACCTCAGGTGAATGTAATTCACCCAGCATTGTTGCCACCTCTGGGAGGCTTTGGCCTGCTCCCGAGGGCAGGGGTGTTCAGATTGATTCTTGCTTTTAGGGTGCACAAAGCTGGGGGAAACACAGGCAGGGGAGCCAGTGACACTTTCACATGCATAGTGCCAGAGGGAGGTGGGTGGGGCTCGAGGAGTCTGGGACTGGTGACAGGAGAGGTGGTGACATCTGAGTTGGGTTTGGAGGGGTGAGGGAGAGTTCCCCTGGGGTGAAGGGCCGAGGTGTGGCCCTTCCTTACAGGTGGGTTATAGCACTGACCGGTTTTGGTCCCCGGGCCTTCATTGACATCTTGCTCCTATCAGGAAATTGACAAGCCTTCTACTCTCTTTGTGGGATCCAGTTATGGTCCCAACCGGAACCTAACTTTCACCTCTCTGGCTGTGGCTCATTTGGGGCAATGGCTGGGCCCTTCCAATTCTGGCTTTTCTGTTCTCCAATTCCAAGGGCTAAGTCCACAGGTAATTAGGGAGGGTTTCTTGGAGGAAGTAAGCCTCACAGTTCATTGAATTCAGGGAAGCCCAAAGGGGAAGGAAAAGACCTGGAGAAGAACAGCCTTTGCAGGCAGGGGCCCTAGAGTGAGAGTGAGAACTTTGGTGGGGCCAGAGATAGTAAAGATGGGGACTCTACTGCCTCTGCGAGGCTATGGCCTTATGACACCCCAGGCTGCTTTGGAGACCTGGGAAGGGCCAGGACCCTGCTCTGCCCAGCAGGCATTCCAGAGCCTGGGATGGAGCTGCAGAAGCTGCAGGGAGGGAGCCAGGGGGCCTGGCCTGGAGGCCCCAGCCCTCCAGTGCAGACTTGCTCTGCCCTGGCTGACACTGCACCCCTCCCCATCCCCACTTCCTGTTTTCAGGCACAGGCTGTTACCCTCACCGTAGCCCAGGCCTTCAAAGTCGCCTTTGAGTTTTGGCAGGTGTCCAAGGAAGGTGAGACTTTGCATCTACATTGTGGGTGTGGTGGGAGGTGGGGAGACACATAAAGGCCCTGGGGTCAGACCTGGACCGACTTCCTGCCTCATCACCCACCTGGCTTGTGACTGTGAGCAGGTCCCTTCACCGCTCAGAGTCTCGGTTTTCCCATCTGAAAAATGGGAACAGCCGTCTCCCTCCCCAAAGGTGCTTGTGAGGATTAACTGACATCCGAAAGGTTTCTTTCCTCCCGGCTGGAAACCTGAAACTGCCCCTTGAGGTTGGCCACCGCTAATCACCCCTGCCCGGTGATTGCTGGGGACAGAGTGCTGGGGTCTGAGGCTCCAACATGTTGTGCCTTGGTCCTGCAGAGAAAGAGAAGAGGGACAAAGCCAGCCAAGAGGGAGGGGACGTCCTGGGGGCCCGCCAAGACTGCACCCCCTCCTTGAAGAGCTGTGAGTCCTGACGGGGAAGGGGGATTGGCCATGCGGTGTTGGGGTTGCGCTTCACCCAGGGGGGTCCCACTCCTGCCTGGGCTGGGAGAGCCTCTTGGTTTTTCACTTGTGTTTTGTTAAATAAATAATACACGTTCATTACAGATCAATTAGAAAATGTAGATAAGGGGAAGAAATAACTCATTTTAGTACATTTTCTTCTAGATATGTCCCTATGCAAATATATAAATATGCGTCTATCTTTCTATATACTTAACATAGTATTGTGTGGTTGCTTAAGAAAACTTAACTATTGTGAATACAAAAGTTTCAGTCTAAGCCATTAGTCAGGTTCTCACTCTGTGGGCAGCTGCGCATCTGCTGTGGGGAGGTGCCAGGGCCGGGCTCTGCTGGGAGGCCTGGGCAAGGCCACATCAGAGGGGAGGGTCAGGGCCAGGACAGCCCAGGGAGGGGGCCAGGAAGGAAGAGGCTGATCTCCCACTGACAACCTGACCGGATCCCTCACAGTGGTCGCCACTGGGAACCTGCTGGACTTAGAGGAGACAGCTAAGGCCCCGCTGTCCACGGTCAGCGCCAACACCACCAACATGGACGAGGTGCCGCGGCCACAAGCCTTGAGTGGCAGCAGTGTTGTCTGGGTGAGTGGTTGTGTGGCCAGCAGATCGGTGATCCTCAGCCTGACCTCTGGGTGAGCCTGGGGCTGCTCCAGGGACCAGGCCCTGGGACCCGTGACTTGTGGGCCTCTGGGAGGACCAGACCCAGCCCGGTAGTGCCCAGGCGCAGGATAGGGGATGAACAATGTCCCTTTTGAACCTGAGGCTGCATCCCCAACAGGCTTGGCTCCCAGCACAGCTGTCTCCTCACAATGCTTGGCCTCTTGGCCTGAGCGTCCACGGCTCTGCCCACCACAAGACCAGCCAAAGGCGCCCTTGTTCTTGGTGTGGCAGAGCTCGCTCCTACCACCCCTCCCCCTCAGCCGCCTGAATGAGGACCCAGAGACTTGGGCAGTCACCAGCTTGGTCCCTGACTCCCTCAGGGACTCAGGGCAAGCCCCCTGACCTCTCTGTCTCAGCTTTTTCATCTCAGTAAGGGTGATGACCTCTGCCAACGGAATCTCCCCGAGGAACCTGAAATTTAATTTTAATTTTTCATTTGGAAATAATTTCAGACTGTGTTACAAAATTAGTACAGAGAATTCCTGTTCACCCGTCATCCAGATTCCCCAATTGTTAACATCTTGCATGACCACATTACACTGGTCAGAATCAGGAAACAAACACGATACTGTGCTGTTATATAATCTATAGAACTTACACATTTCTCCAGGTGCCCCTTCAGTGTCCTGTTTCTGGCCCAGGATCCATTGCAGAATCACATGTTAACTTGTCGTCTCTTTAATTTTTAAAAATCTGGGTACTGGGGGCTCCCCTGGTGTCCCTCGAGCCTGTTCTCTGCTGTTTGGGAACCACCCTTGCCACTTGCCCATCCTCACCAGAAGGCCATGGAGGGACCTCACCTGTCGCTTTTCTGCTGAGGCTGTGGGACTCCTGGCATCAGTTATCCCTCATGAACTTGGAATTTTGGCTTGGCTTTTGGAAGTAAATGAAGGCAAGAAAACTCCCTTCCCCACCCTCTTCCTTTTGGAATTTGAAAGCCATAGAAGTCATCAGGTCCAATGCCCTCCTCTTATTGAAGGAAAAGCTGAGTTTCAACGTGGAGCAGTGACTTGCCCAAGGTCTCACGGGCAGGTAGCATGGACCAGGGCACTGAACCCACCTGGGTCTCCAGACACCCTGGGACATGGCCTTTCTCCTCTCCCACGTCTCCAGCTTTGGGTCCTTGGGCTGAGATGCTGGCGATGCACCCAGGCAGGAGGCCTGCCTGAGGCCGTGCCTCCAGGCGCCCACCCTGAGCTTGTGTCCTGAGTCCCTGTAGCTTACCCAGGGCTGGGACAAGCCCCAGCTGTGAGCATGGGCTCCCCCAAACATAGTTCTTATCTCCTGCTTTGTTTTCCCCAAGGAGCTGGATG	AGCAGGCTTAAATAATGGCGTTTTCATATCCCTGCCACATTGGGTGTCCAGCCCTTGCTTGGGTGGATAGTGATCTGACTTGGGCTGGTAATTAGCCCATATTTTTAGTTCATGGGCAATTCTCAATGGTAACTGGGTCTATTAAACTTGATTCAGATATGACAGCTTAAATTGTAAACAGCTGCGAAGAGTTTCATACTTAATTACCATATTTAAGTTTTGCCATAAAGTGCCTGTACTTCCATCAAAAATGTAAATGTTGGAGACATTCAAATGAGGTTTTATACTTTCGTGAAGTGTAATTGGCACGGATCAGTCAGTTTGTTTAGGAATTTTAAATATTTTTTTAAAAGGAGTTTTAAAGGCAGTGGCCACAGGTCCATTTCTCAATTAAATTGAGTTGTCTGGGGGAGGGCAGGGAGCGGGGCTGAGGCTGGTGAGGCCTGAACTTGTAGACTTGAAAGAGGCTGGTGCTTTCTTCTCTCAGCCAGGGCTTCAGAAGGAAGCTAGATGTTTCCGGCTATAGCTACGAACTCTGGGACTTCCACTCCCAGAAGCTGAGCTGATTAACCCTGGACTGGAATGGCTGAGAGAGGAAGGTGTTGAGATGAATATGGGCTGGGGATAGGTCCTGGGTGGAATGAGGCCTGCACCTCAGGTGAATGTAATTCACCCAGCATTGTTGCCACCTCTGGGAGGCTTTGGCCTGCTCCCGAGGGCAGGGGTGTTCAGATTGATTCTTGCTTTTAGGGTGCACAAAGCTGGGGGAAACACAGGCAGGGGAGCCAGTGACACTTTCACATGCATAGTGCCAGAGGGAGGTGGGTGGGGCTCGAGGAGTCTGGGACTGGTGACAGGAGAGGTGGTGACATCTGAGTTGGGTTTGGAGGGGTGAGGGAGAGTTCCCCTGGGGTGAAGGGCCGAGGTGTGGCCCTTCCTTACAGGTGGGTTATAGCACTGACCGGTTTTGGTCCCCGGGCCTTCATTGACATCTTGCTCCTATCAGGAAATTGACAAGCCTTCTACTCTCTTTGTGGGATCCAGTTATGGTCCCAACCGGAACCTAACTTTCACCTCTCTGGCTGTGGCTCATTTGGGGCAATGGCTGGGCCCTTCCAATTCTGGCTTTTCTGTTCTCCAATTCCAAGGGCTAAGTCCACAGGTAATTAGGGAGGGTTTCTTGGAGGAAGTAAGCCTCACAGTTCATTGAATTCAGGGAAGCCCAAAGGGGAAGGAAAAGACCTGGAGAAGAACAGCCTTTGCAGGCAGGGGCCCTAGAGTGAGAGTGAGAACTTTGGTGGGGCCAGAGATAGTAAAGATGGGGACTCTACTGCCTCTGCGAGGCTATGGCCTTATGACACCCCAGGCTGCTTTGGAGACCTGGGAAGGGCCAGGACCCTGCTCTGCCCAGCAGGCATTCCAGAGCCTGGGATGGAGCTGCAGAAGCTGCAGGGAGGGAGCCAGGGGGCCTGGCCTGGAGGCCCCAGCCCTCCAGTGCAGACTTGCTCTGCCCTGGCTGACACTGCACCCCTCCCCATCCCCACTTCCTGTTTTCAGGCACAGGCTGTTACCCTCACCGTAGCCCAGGCCTTCAAAGTCGCCTTTGAGTTTTGGCAGGTGTCCAAGGAAGGTGAGACTTTGCATCTACATTGTGGGTGTGGTGGGAGGTGGGGAGACACATAAAGGCCCTGGGGTCAGACCTGGACCGACTTCCTGCCTCATCACCCACCTGGCTTGTGACTGTGAGCAGGTCCCTTCACCGCTCAGAGTCTCGGTTTTCCCATCTGAAAAATGGGAACAGCCGTCTCCCTCCCCAAAGGTGCTTGTGAGGATTAACTGACATCCGAAAGGTTTCTTTCCTCCCGGCTGGAAACCTGAAACTGCCCCTTGAGGTTGGCCACCGCTAATCACCCCTGCCCGGTGATTGCTGGGGACAGAGTGCTGGGGTCTGAGGCTCCAACATGTTGTGCCTTGGTCCTGCAGAGAAAGAGAAGAGGGACAAAGCCAGCCAAGAGGGAGGGGACGTCCTGGGGGCCCGCCAAGACTGCACCCCCCTCCTTGAAGAGCTGTGAGTCCTGACGGGGAAGGGGGATTGGCCATGCGGTGTTGGGGTTGCGCTTCACCCAGGGGGGTCCCACTCCTGCCTGGGCTGGGAGAGCCTCTTGGTTTTTCACTTGTGTTTTGTTAAATAAATAATACACGTTCATTACAGATCAATTAGAAAATGTAGATAAGGGGAAGAAATAACTCATTTTAGTACATTTTCTTCTAGATATGTCCCTATGCAAATATATAAATATGCGTCTATCTTTCTATATACTTAACATAGTATTGTGTGGTTGCTTAAGAAAACTTAACTATTGTGAATACAAAAGTTTCAGTCTAAGCCATTAGTCAGGTTCTCACTCTGTGGGCAGCTGCGCATCTGCTGTGGGGAGGTGCCAGGGCCGGGCTCTGCTGGGAGGCCTGGGCAAGGCCACATCAGAGGGGAGGGTCAGGGCCAGGACAGCCCAGGGAGGGGGCCAGGAAGGAAGAGGCTGATCTCCCACTGACAACCTGACCGGATCCCTCACAGTGGTCGCCACTGGGAACCTGCTGGACTTAGAGGAGACAGCTAAGGCCCCGCTGTCCACGGTCAGCGCCAACACCACCAACATGGACGAGGTGCCGCGGCCACAAGCCTTGAGTGGCAGCAGTGTTGTCTGGGTGAGTGGTTGTGTGGCCAGCAGATCGGTGATCCTCAGCCTGACCTCTGGGTGAGCCTGGGGCTGCTCCAGGGACCAGGCCCTGGGACCCGTGACTTGTGGGCCTCTGGGAGGACCAGACCCAGCCCGGTAGTGCCCAGGCGCAGGATAGGGGATGAACAATGTCCCTTTTGAACCTGAGGCTGCATCCCCAACAGGCTTGGCTCCCAGCACAGCTGTCTCCTCACAATGCTTGGCCTCTTGGCCTGAGCGTCCACGGCTCTGCCCACCACAAGACCAGCCAAAGGCGCCCTTGTTCTTGGTGTGGCAGAGCTCGCTCCTACCACCCCTCCCCCTCAGCCGCCTGAATGAGGACCCAGAGACTTGGGCAGTCACCAGCTTGGTCCCTGACTCCCTCAGGGACTCAGGGCAAGCCCCCTGACCTCTCTGTCTCAGCTTTTTCATCTCAGTAAGGGTGATGACCTCTGCCAACGGAATCTCCCCGAGGAACCTGAAATTTAATTTTAATTTTTCATTTGGAAATAATTTCAGACTGTGTTACAAAATTAGTACAGAGAATTCCTGTTCACCCGTCATCCAGATTCCCCAATTGTTAACATCTTGCATGACCACATTACACTGGTCAGAATCAGGAAACAAACACGATACTGTGCTGTTATATAATCTATAGAACTTACACATTTCTCCAGGTGCCCCTTCAGTGTCCTGTTTCTGGCCCAGGATCCATTGCAGAATCACATGTTAACTTGTCGTCTCTTTAATTTTTAAAAATCTGGGTACTGGGGGCTCCCCTGGTGTCCCTCGAGCCTGTTCTCTGCTGTTTGGGAACCACCCTTGCCACTTGCCCATCCTCACCAGAAGGCCATGGAGGGACCTCACCTGTCGCTTTTCTGCTGAGGCTGTGGGACTCCTGGCATCAGTTATCCCTCATGAACTTGGAATTTTGGCTTGGCTTTTGGAAGTAAATGAAGGCAAGAAAACTCCCTTCCCCACCCTCTTCCTTTTGGAATTTGAAAGCCATAGAAGTCATCAGGTCCAATGCCCTCCTCTTATTGAAGGAAAAGCTGAGTTTCAACGTGGAGCAGTGACTTGCCCAAGGTCTCACGGGCAGGTAGCATGGACCAGGGCACTGAACCCACCTGGGTCTCCAGACACCCTGGGACATGGCCTTTCTCCTCTCCCACGTCTCCAGCTTTGGGTCCTTGGGCTGAGATGCTGGCGATGCACCCAGGCAGGAGGCCTGCCTGAGGCCGTGCCTCCAGGCGCCCACCCTGAGCTTGTGTCCTGAGTCCCTGTAGCTTACCCAGGGCTGGGACAAGCCCCAGCTGTGAGCATGGGCTCCCCCAAACATAGTTCTTATCTCCTGCTTTGTTTTCCCCAAGGAGCTGGAT	pathogenic	5,730
Does the chromosome 1 mutation at position 25563697 within gene LDLRAP1 (low density lipoprotein receptor adaptor protein 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).	benign	CTGATTAACCCTGGACTGGAATGGCTGAGAGAGGAAGGTGTTGAGATGAATATGGGCTGGGGATAGGTCCTGGGTGGAATGAGGCCTGCACCTCAGGTGAATGTAATTCACCCAGCATTGTTGCCACCTCTGGGAGGCTTTGGCCTGCTCCCGAGGGCAGGGGTGTTCAGATTGATTCTTGCTTTTAGGGTGCACAAAGCTGGGGGAAACACAGGCAGGGGAGCCAGTGACACTTTCACATGCATAGTGCCAGAGGGAGGTGGGTGGGGCTCGAGGAGTCTGGGACTGGTGACAGGAGAGGTGGTGACATCTGAGTTGGGTTTGGAGGGGTGAGGGAGAGTTCCCCTGGGGTGAAGGGCCGAGGTGTGGCCCTTCCTTACAGGTGGGTTATAGCACTGACCGGTTTTGGTCCCCGGGCCTTCATTGACATCTTGCTCCTATCAGGAAATTGACAAGCCTTCTACTCTCTTTGTGGGATCCAGTTATGGTCCCAACCGGAACCTAACTTTCACCTCTCTGGCTGTGGCTCATTTGGGGCAATGGCTGGGCCCTTCCAATTCTGGCTTTTCTGTTCTCCAATTCCAAGGGCTAAGTCCACAGGTAATTAGGGAGGGTTTCTTGGAGGAAGTAAGCCTCACAGTTCATTGAATTCAGGGAAGCCCAAAGGGGAAGGAAAAGACCTGGAGAAGAACAGCCTTTGCAGGCAGGGGCCCTAGAGTGAGAGTGAGAACTTTGGTGGGGCCAGAGATAGTAAAGATGGGGACTCTACTGCCTCTGCGAGGCTATGGCCTTATGACACCCCAGGCTGCTTTGGAGACCTGGGAAGGGCCAGGACCCTGCTCTGCCCAGCAGGCATTCCAGAGCCTGGGATGGAGCTGCAGAAGCTGCAGGGAGGGAGCCAGGGGGCCTGGCCTGGAGGCCCCAGCCCTCCAGTGCAGACTTGCTCTGCCCTGGCTGACACTGCACCCCTCCCCATCCCCACTTCCTGTTTTCAGGCACAGGCTGTTACCCTCACCGTAGCCCAGGCCTTCAAAGTCGCCTTTGAGTTTTGGCAGGTGTCCAAGGAAGGTGAGACTTTGCATCTACATTGTGGGTGTGGTGGGAGGTGGGGAGACACATAAAGGCCCTGGGGTCAGACCTGGACCGACTTCCTGCCTCATCACCCACCTGGCTTGTGACTGTGAGCAGGTCCCTTCACCGCTCAGAGTCTCGGTTTTCCCATCTGAAAAATGGGAACAGCCGTCTCCCTCCCCAAAGGTGCTTGTGAGGATTAACTGACATCCGAAAGGTTTCTTTCCTCCCGGCTGGAAACCTGAAACTGCCCCTTGAGGTTGGCCACCGCTAATCACCCCTGCCCGGTGATTGCTGGGGACAGAGTGCTGGGGTCTGAGGCTCCAACATGTTGTGCCTTGGTCCTGCAGAGAAAGAGAAGAGGGACAAAGCCAGCCAAGAGGGAGGGGACGTCCTGGGGGCCCGCCAAGACTGCACCCCCTCCTTGAAGAGCTGTGAGTCCTGACGGGGAAGGGGGATTGGCCATGCGGTGTTGGGGTTGCGCTTCACCCAGGGGGGTCCCACTCCTGCCTGGGCTGGGAGAGCCTCTTGGTTTTTCACTTGTGTTTTGTTAAATAAATAATACACGTTCATTACAGATCAATTAGAAAATGTAGATAAGGGGAAGAAATAACTCATTTTAGTACATTTTCTTCTAGATATGTCCCTATGCAAATATATAAATATGCGTCTATCTTTCTATATACTTAACATAGTATTGTGTGGTTGCTTAAGAAAACTTAACTATTGTGAATACAAAAGTTTCAGTCTAAGCCATTAGTCAGGTTCTCACTCTGTGGGCAGCTGCGCATCTGCTGTGGGGAGGTGCCAGGGCCGGGCTCTGCTGGGAGGCCTGGGCAAGGCCACATCAGAGGGGAGGGTCAGGGCCAGGACAGCCCAGGGAGGGGGCCAGGAAGGAAGAGGCTGATCTCCCACTGACAACCTGACCGGATCCCTCACAGTGGTCGCCACTGGGAACCTGCTGGACTTAGAGGAGACAGCTAAGGCCCCGCTGTCCACGGTCAGCGCCAACACCACCAACATGGACGAGGTGCCGCGGCCACAAGCCTTGAGTGGCAGCAGTGTTGTCTGGGTGAGTGGTTGTGTGGCCAGCAGATCGGTGATCCTCAGCCTGACCTCTGGGTGAGCCTGGGGCTGCTCCAGGGACCAGGCCCTGGGACCCGTGACTTGTGGGCCTCTGGGAGGACCAGACCCAGCCCGGTAGTGCCCAGGCGCAGGATAGGGGATGAACAATGTCCCTTTTGAACCTGAGGCTGCATCCCCAACAGGCTTGGCTCCCAGCACAGCTGTCTCCTCACAATGCTTGGCCTCTTGGCCTGAGCGTCCACGGCTCTGCCCACCACAAGACCAGCCAAAGGCGCCCTTGTTCTTGGTGTGGCAGAGCTCGCTCCTACCACCCCTCCCCCTCAGCCGCCTGAATGAGGACCCAGAGACTTGGGCAGTCACCAGCTTGGTCCCTGACTCCCTCAGGGACTCAGGGCAAGCCCCCTGACCTCTCTGTCTCAGCTTTTTCATCTCAGTAAGGGTGATGACCTCTGCCAACGGAATCTCCCCGAGGAACCTGAAATTTAATTTTAATTTTTCATTTGGAAATAATTTCAGACTGTGTTACAAAATTAGTACAGAGAATTCCTGTTCACCCGTCATCCAGATTCCCCAATTGTTAACATCTTGCATGACCACATTACACTGGTCAGAATCAGGAAACAAACACGATACTGTGCTGTTATATAATCTATAGAACTTACACATTTCTCCAGGTGCCCCTTCAGTGTCCTGTTTCTGGCCCAGGATCCATTGCAGAATCACATGTTAACTTGTCGTCTCTTTAATTTTTAAAAATCTGGGTACTGGGGGCTCCCCTGGTGTCCCTCGAGCCTGTTCTCTGCTGTTTGGGAACCACCCTTGCCACTTGCCCATCCTCACCAGAAGGCCATGGAGGGACCTCACCTGTCGCTTTTCTGCTGAGGCTGTGGGACTCCTGGCATCAGTTATCCCTCATGAACTTGGAATTTTGGCTTGGCTTTTGGAAGTAAATGAAGGCAAGAAAACTCCCTTCCCCACCCTCTTCCTTTTGGAATTTGAAAGCCATAGAAGTCATCAGGTCCAATGCCCTCCTCTTATTGAAGGAAAAGCTGAGTTTCAACGTGGAGCAGTGACTTGCCCAAGGTCTCACGGGCAGGTAGCATGGACCAGGGCACTGAACCCACCTGGGTCTCCAGACACCCTGGGACATGGCCTTTCTCCTCTCCCACGTCTCCAGCTTTGGGTCCTTGGGCTGAGATGCTGGCGATGCACCCAGGCAGGAGGCCTGCCTGAGGCCGTGCCTCCAGGCGCCCACCCTGAGCTTGTGTCCTGAGTCCCTGTAGCTTACCCAGGGCTGGGACAAGCCCCAGCTGTGAGCATGGGCTCCCCCAAACATAGTTCTTATCTCCTGCTTTGTTTTCCCCAAGGAGCTGGATGATGGCCTGGATGAAGCGTTTTCGAGGTAATGCTAGCTTCCTGTGCTGGGTAGGGGGCCTGGTGTGCGTGGGCTGGCCCTGCTGCCCTTTCTCCTGGGGACCTTTCCCCTGATTAAGAACACAAGCCACTCAGACCCCCTCCAGAGCAACAGTCCCATCCCTCCACTCAAATGCTTCCAGGGGCAGGGAGCTCACTGGGGAGGAAACCCCTTCCAGCGTTGTCCAGAGCTGTTAGAAAGTTCTTACTGTTGAGTCAAAAACTATTCCTGGTGGCTGCTCTGCCGCAGTCTGAGGTGAGCGAAACACACTGCAGCTCAAGTTGATTTCCTCCGACTTGAGGAGGCGTGGCCTTCAAAAATGGGCTTTTTTTTTTTTTTACAGGCTTTGCTCCCTCCACAGGTCTGTGTTTATGAACAGGGGAAGGGAGAAAGTGTTTAATGAAGCTCGTGAAGCGTTCCATAGCAGGGAAGGTCAGGCACAGTGAGGAGGTGTTTTGGTATAGCCTTTGGTGGCATTTCCCCGTTTTCCCAGGGGCCATCCTTGTGGCCCCCTGCAGCTTGGGG	CTGATTAACCCTGGACTGGAATGGCTGAGAGAGGAAGGTGTTGAGATGAATATGGGCTGGGGATAGGTCCTGGGTGGAATGAGGCCTGCACCTCAGGTGAATGTAATTCACCCAGCATTGTTGCCACCTCTGGGAGGCTTTGGCCTGCTCCCGAGGGCAGGGGTGTTCAGATTGATTCTTGCTTTTAGGGTGCACAAAGCTGGGGGAAACACAGGCAGGGGAGCCAGTGACACTTTCACATGCATAGTGCCAGAGGGAGGTGGGTGGGGCTCGAGGAGTCTGGGACTGGTGACAGGAGAGGTGGTGACATCTGAGTTGGGTTTGGAGGGGTGAGGGAGAGTTCCCCTGGGGTGAAGGGCCGAGGTGTGGCCCTTCCTTACAGGTGGGTTATAGCACTGACCGGTTTTGGTCCCCGGGCCTTCATTGACATCTTGCTCCTATCAGGAAATTGACAAGCCTTCTACTCTCTTTGTGGGATCCAGTTATGGTCCCAACCGGAACCTAACTTTCACCTCTCTGGCTGTGGCTCATTTGGGGCAATGGCTGGGCCCTTCCAATTCTGGCTTTTCTGTTCTCCAATTCCAAGGGCTAAGTCCACAGGTAATTAGGGAGGGTTTCTTGGAGGAAGTAAGCCTCACAGTTCATTGAATTCAGGGAAGCCCAAAGGGGAAGGAAAAGACCTGGAGAAGAACAGCCTTTGCAGGCAGGGGCCCTAGAGTGAGAGTGAGAACTTTGGTGGGGCCAGAGATAGTAAAGATGGGGACTCTACTGCCTCTGCGAGGCTATGGCCTTATGACACCCCAGGCTGCTTTGGAGACCTGGGAAGGGCCAGGACCCTGCTCTGCCCAGCAGGCATTCCAGAGCCTGGGATGGAGCTGCAGAAGCTGCAGGGAGGGAGCCAGGGGGCCTGGCCTGGAGGCCCCAGCCCTCCAGTGCAGACTTGCTCTGCCCTGGCTGACACTGCACCCCTCCCCATCCCCACTTCCTGTTTTCAGGCACAGGCTGTTACCCTCACCGTAGCCCAGGCCTTCAAAGTCGCCTTTGAGTTTTGGCAGGTGTCCAAGGAAGGTGAGACTTTGCATCTACATTGTGGGTGTGGTGGGAGGTGGGGAGACACATAAAGGCCCTGGGGTCAGACCTGGACCGACTTCCTGCCTCATCACCCACCTGGCTTGTGACTGTGAGCAGGTCCCTTCACCGCTCAGAGTCTCGGTTTTCCCATCTGAAAAATGGGAACAGCCGTCTCCCTCCCCAAAGGTGCTTGTGAGGATTAACTGACATCCGAAAGGTTTCTTTCCTCCCGGCTGGAAACCTGAAACTGCCCCTTGAGGTTGGCCACCGCTAATCACCCCTGCCCGGTGATTGCTGGGGACAGAGTGCTGGGGTCTGAGGCTCCAACATGTTGTGCCTTGGTCCTGCAGAGAAAGAGAAGAGGGACAAAGCCAGCCAAGAGGGAGGGGACGTCCTGGGGGCCCGCCAAGACTGCACCCCCTCCTTGAAGAGCTGTGAGTCCTGACGGGGAAGGGGGATTGGCCATGCGGTGTTGGGGTTGCGCTTCACCCAGGGGGGTCCCACTCCTGCCTGGGCTGGGAGAGCCTCTTGGTTTTTCACTTGTGTTTTGTTAAATAAATAATACACGTTCATTACAGATCAATTAGAAAATGTAGATAAGGGGAAGAAATAACTCATTTTAGTACATTTTCTTCTAGATATGTCCCTATGCAAATATATAAATATGCGTCTATCTTTCTATATACTTAACATAGTATTGTGTGGTTGCTTAAGAAAACTTAACTATTGTGAATACAAAAGTTTCAGTCTAAGCCATTAGTCAGGTTCTCACTCTGTGGGCAGCTGCGCATCTGCTGTGGGGAGGTGCCAGGGCCGGGCTCTGCTGGGAGGCCTGGGCAAGGCCACATCAGAGGGGAGGGTCAGGGCCAGGACAGCCCAGGGAGGGGGCCAGGAAGGAAGAGGCTGATCTCCCACTGACAACCTGACCGGATCCCTCACAGTGGTCGCCACTGGGAACCTGCTGGACTTAGAGGAGATGGCTAAGGCCCCGCTGTCCACGGTCAGCGCCAACACCACCAACATGGACGAGGTGCCGCGGCCACAAGCCTTGAGTGGCAGCAGTGTTGTCTGGGTGAGTGGTTGTGTGGCCAGCAGATCGGTGATCCTCAGCCTGACCTCTGGGTGAGCCTGGGGCTGCTCCAGGGACCAGGCCCTGGGACCCGTGACTTGTGGGCCTCTGGGAGGACCAGACCCAGCCCGGTAGTGCCCAGGCGCAGGATAGGGGATGAACAATGTCCCTTTTGAACCTGAGGCTGCATCCCCAACAGGCTTGGCTCCCAGCACAGCTGTCTCCTCACAATGCTTGGCCTCTTGGCCTGAGCGTCCACGGCTCTGCCCACCACAAGACCAGCCAAAGGCGCCCTTGTTCTTGGTGTGGCAGAGCTCGCTCCTACCACCCCTCCCCCTCAGCCGCCTGAATGAGGACCCAGAGACTTGGGCAGTCACCAGCTTGGTCCCTGACTCCCTCAGGGACTCAGGGCAAGCCCCCTGACCTCTCTGTCTCAGCTTTTTCATCTCAGTAAGGGTGATGACCTCTGCCAACGGAATCTCCCCGAGGAACCTGAAATTTAATTTTAATTTTTCATTTGGAAATAATTTCAGACTGTGTTACAAAATTAGTACAGAGAATTCCTGTTCACCCGTCATCCAGATTCCCCAATTGTTAACATCTTGCATGACCACATTACACTGGTCAGAATCAGGAAACAAACACGATACTGTGCTGTTATATAATCTATAGAACTTACACATTTCTCCAGGTGCCCCTTCAGTGTCCTGTTTCTGGCCCAGGATCCATTGCAGAATCACATGTTAACTTGTCGTCTCTTTAATTTTTAAAAATCTGGGTACTGGGGGCTCCCCTGGTGTCCCTCGAGCCTGTTCTCTGCTGTTTGGGAACCACCCTTGCCACTTGCCCATCCTCACCAGAAGGCCATGGAGGGACCTCACCTGTCGCTTTTCTGCTGAGGCTGTGGGACTCCTGGCATCAGTTATCCCTCATGAACTTGGAATTTTGGCTTGGCTTTTGGAAGTAAATGAAGGCAAGAAAACTCCCTTCCCCACCCTCTTCCTTTTGGAATTTGAAAGCCATAGAAGTCATCAGGTCCAATGCCCTCCTCTTATTGAAGGAAAAGCTGAGTTTCAACGTGGAGCAGTGACTTGCCCAAGGTCTCACGGGCAGGTAGCATGGACCAGGGCACTGAACCCACCTGGGTCTCCAGACACCCTGGGACATGGCCTTTCTCCTCTCCCACGTCTCCAGCTTTGGGTCCTTGGGCTGAGATGCTGGCGATGCACCCAGGCAGGAGGCCTGCCTGAGGCCGTGCCTCCAGGCGCCCACCCTGAGCTTGTGTCCTGAGTCCCTGTAGCTTACCCAGGGCTGGGACAAGCCCCAGCTGTGAGCATGGGCTCCCCCAAACATAGTTCTTATCTCCTGCTTTGTTTTCCCCAAGGAGCTGGATGATGGCCTGGATGAAGCGTTTTCGAGGTAATGCTAGCTTCCTGTGCTGGGTAGGGGGCCTGGTGTGCGTGGGCTGGCCCTGCTGCCCTTTCTCCTGGGGACCTTTCCCCTGATTAAGAACACAAGCCACTCAGACCCCCTCCAGAGCAACAGTCCCATCCCTCCACTCAAATGCTTCCAGGGGCAGGGAGCTCACTGGGGAGGAAACCCCTTCCAGCGTTGTCCAGAGCTGTTAGAAAGTTCTTACTGTTGAGTCAAAAACTATTCCTGGTGGCTGCTCTGCCGCAGTCTGAGGTGAGCGAAACACACTGCAGCTCAAGTTGATTTCCTCCGACTTGAGGAGGCGTGGCCTTCAAAAATGGGCTTTTTTTTTTTTTTACAGGCTTTGCTCCCTCCACAGGTCTGTGTTTATGAACAGGGGAAGGGAGAAAGTGTTTAATGAAGCTCGTGAAGCGTTCCATAGCAGGGAAGGTCAGGCACAGTGAGGAGGTGTTTTGGTATAGCCTTTGGTGGCATTTCCCCGTTTTCCCAGGGGCCATCCTTGTGGCCCCCTGCAGCTTGGGG	benign	5,744
Variant in SELENON (selenoprotein N), chromosome 1, position 25800232—is this benign or pathogenic? If pathogenic, what disease(s) is linked?	pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']	CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACC	CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAA	pathogenic	5,772
Benign or pathogenic: chromosome 1, position 25800232, gene SELENON (selenoprotein N) variant? Disease(s) if pathogenic?	pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']	CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACC	CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCNNNNNNNNNNNNNNNNNNNNNNNNN	pathogenic	5,773
Is the genetic change at chromosome 1, position 25800233, within gene SELENON (selenoprotein N) benign or pathogenic? Name the disease(s) if pathogenic.	pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']	TCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCG	TCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTG	pathogenic	5,774
Variant on chromosome 1, at position 25800270, affecting SELENON (selenoprotein N): is it benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']	AGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGCCAGGAGCTATAACTATCATTACTAAATCT	AGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGC	pathogenic	5,776
A mutation at chromosome position 25800291 on chromosome 1 in gene SELENON (selenoprotein N): benign or pathogenic? If pathogenic, which disease(s) is it linked to?	pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']	TGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGCCAGGAGCTATAACTATCATTACTAAATCTGAAACTTTGCTTAGGTGCTTT	TGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGCCAGGAGCTATAACTATCATTACTAAATCTGAAACTTTGCTTA	pathogenic	5,778
Variant at chromosome position 25800369, chromosome 1, gene SELENON (selenoprotein N): benign or pathogenic? If pathogenic, what condition(s) does it relate to?	pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']	CCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGCCAGGAGCTATAACTATCATTACTAAATCTGAAACTTTGCTTAGGTGCTTTCAGATTTCTATTCCATTCTTTGTTGTTGTTGTTGTTGAGATGGAGTCTTCCTCTGTCACCTAGACTGGAGTGCAGTGA	CCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGCCAGGAGCTATAACTATCATTACTAAATCTGAAACTTTGCTTAGGTGCTTTCAGATTTCTATTCCATTCTTTGTTGTTGTTGTTGTTGAGATGGAGTCTTCCTCTGTCACCTAGACTGGAGTGCAGTGAN	pathogenic	5,779
Clinical classification of chromosome 1, position 25801105, gene SELENON (selenoprotein N): benign or pathogenic? Disease(s) if pathogenic?	pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']	GAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGCCAGGAGCTATAACTATCATTACTAAATCTGAAACTTTGCTTAGGTGCTTTCAGATTTCTATTCCATTCTTTGTTGTTGTTGTTGTTGAGATGGAGTCTTCCTCTGTCACCTAGACTGGAGTGCAGTGACATAATCTCAGCTCACTGCAGCTTCTGCCTCCCTGGTTCAAGCAATTCCCCTGCCTCAGCCTTCCCAGGAGCTGGGATTACAGGCACCTACCACCATGCCGGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTTGCCTTGTTAGCTAGGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCCTATTCCATTCTTGCTATCATTTTTGCCTAGTGCAGTCAGTGATTATTTATTTATTTATTTGGTTAAAGATGAGGGGCTGAAACATTCTAATGAATTATAAAACGCTTCTCTCGCTGCCCCACCACCACCCTAACCTCTGTGCCCATTTTCTTCCAACTTCTTGTGACGTTTCTTGAACTTAGGATCTTGGACACCTACTTATTACCCAGATTGCCTGGTGTAAGTCAGTCATTGATGGGAAAGGCAAGAGAGACATGCTGGCTGTTTCGGGTGCATAAGCTTCAAAGCGCTGTCACTAGCCTGCTGTTTTTCAGGGGTGTATTGTGTAGGTTGGTTCCGTGCTGGCCCGGTGACCTGTGATCACTGCTAGAGGAGGAAGGTTGGATGAAAAATGCTAATGAGCTGGAGTGGATGTGTATCAATGTCTCTCAGTGGCAGGCAGTTCTGTCATGAAAGCAGATGGGCAGATAAACAGGTCGTCCCCTTGTGGCCTT	GAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGCCAGGAGCTATAACTATCATTACTAAATCTGAAACTTTGCTTAGGTGCTTTCAGATTTCTATTCCATTCTTTGTTGTTGTTGTTGTTGAGATGGAGTCTTCCTCTGTCACCTAGACTGGAGTGCAGTGACATAATCTCAGCTCACTGCAGCTTCTGCCTCCCTGGTTCAAGCAATTCCCCTGCCTCAGCCTTCCCAGGAGCTGGGATTACAGGCACCTACCACCATGCCGGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTTGCCTTGTTAGCTAGGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCCTATTCCATTCTTGCTATCATTTTTGCCTAGTGCAGTCAGTGATTATTTATTTATTTATTTGGTTAAAGATGAGGGGCTGAAACATTCTAATGAATTATAAAACGCTTCTCTCGCTGCCCCACCACCACCCTAACCTCTGTGCCCATTTTCTTCCAACTTCTTGTGACGTTTCTTGAACTTAGGATCTTGGACACCTACTTATTACCCAGATTGCCTGGTGTAAGTCAGTCATTGATGGGAAAGGCAAGAGAGACATGCTGGCTGTTTCGGGTGCATAAGCTTCAAAGCGCTGTCACTAGCCTGCTGTTTTTCAGGGGTGTATTGTGTAGGTTGGTTCCGTGCTGGCCCGGTGACCTGTGATCACTGCTAGAGGAGGAAGGTTGGATGAAAAATGCTAATGAGCTGGAGTGGATGTGTATCAATGTCTCTCAGTGGCAGGCAGTTCTGTCATGAAAGCAGATGGGCAGATAAACAGGTCGTCCCCTTGTGGCC	pathogenic	5,785
Regarding the variant at chromosome 1 and position 25808724, affecting gene SELENON (selenoprotein N): benign or pathogenic? If pathogenic, what are the associated illness(es)?	pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']	CAGCAGCAGCCCCTTGGCAGTGCCCAACTCTAGAGCCTGGCAGCCACATGGCAAAAGAAACTTGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGA	CAGCAGCAGCCCCTTGGCAGTGCCCAACTCTAGAGCCTGGCAGCCACATGGCAAAAGAAACTTGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGG	pathogenic	5,800
Mutation found at chromosome 1 position 25808753, gene SELENON (selenoprotein N): benign or pathogenic? If pathogenic, indicate the relevant disease(s).	pathogenic; ['Congenital_myopathy_with_fiber_type_disproportion', 'Eichsfeld_type_congenital_muscular_dystrophy', 'SELENON-related_disorder']	CTAGAGCCTGGCAGCCACATGGCAAAAGAAACTTGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAG	CTAGAGCCTGGCAGCCACATGGCAAAAGAAACTTGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTA	pathogenic	5,802
Chromosome 1, position 25808786, gene SELENON (selenoprotein N): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?	pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy', 'Muscular_dystrophy', 'SELENON-related_myopathy']	TGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGT	TGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	pathogenic	5,804
Chromosome 1, position 25809021, gene SELENON (selenoprotein N): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']	CACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCC	CACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCNNNNNNNNNNNNNNN	pathogenic	5,808
Variant on chromosome 1, at position 25809104, affecting SELENON (selenoprotein N): is it benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Congenital_myopathy_4A,_autosomal_dominant', 'Congenital_myopathy_with_fiber_type_disproportion', 'Eichsfeld_type_congenital_muscular_dystrophy']	TCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCCGCCAGAGGCCTGTGCAGGGACCACGGTGCTCGTTTTCATTCCTGCCCCACCCTGTGACCCGCCTTGAGGCACTGGCCATCTC	TCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCCGCCAGAGGCCTGTGCAGGGACCACGGTGCTCGTTTTCATTCCTGCCCCACCCTGTGACCCGCCTTGAGGCACTGGCCAT	pathogenic	5,811

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