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
Mutation found at chromosome 1 position 1040717, gene AGRN (agrin): benign or pathogenic? If pathogenic, indicate the relevant disease(s).	pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_8']	TGGTGCAGGGAGGTGACTGGGTCCTTGGCCATGGGGTTGGGACCTGGGGGGAACCATTGGTCCACAGGTCCAGCCGAAGCCCAGGAGAACAGCTGGCTGGGCATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGGGCCACATAGCGCTGTGTGCTGGGCACCCTCTAAGCTTTGCAGATACTGGCCCATTTAACCCCACAATCCTGGGAGGTAGGTCCTATTGCTCCTATTCACCGAAGGGGATACTGAGGCCCAGGCAGGTGATAACCTGCCCACATTCTCACAGTGGGTAATGCAGAGCTGAGCAGCCTGGCTGTAAGACCTGAGGTGGGAGAGTAGCAGAAGAGGGGTGGGGGCACAGCCAAGGTTTGGGGAGGAAGACAGGGATCTGGTGGGGGGAGCATGGGTAGGTTGCAGGGATGGCAGGCGGATGGCCCTCACTCAGCCTTCTGGGGTGGGGGCAGGGACACCCAGACAGACAGCGCCAGAGCCTGGGGTGGGCTGTTGCTATAGCAACAGCTGGCTCCAGCTCCCAGTGCACCCACCCTCCTTGGAGATGGGGGGGGTTCCTCCTGCCCCATTTCACGAGCCTGCTGGGAAGTGATGGGTGGTAGCCACCCCTCTGACATGACTTATTAATGATAATTGGACCCAATTAAACATTTATTAAATCCAGACAGCTGCAGCCGCTAACGGACCCTTCCCTGATCCTGGGTGGGCCATGCTGGGGGTGGGGGTGCTCAGGATGGGCTGCCGCAGGGGCTCTGGGTTTTAACGTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCG	TGGTGCAGGGAGGTGACTGGGTCCTTGGCCATGGGGTTGGGACCTGGGGGGAACCATTGGTCCACAGGTCCAGCCGAAGCCCAGGAGAACAGCTGGCTGGGCATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGGGCCACATAGCGCTGTGTGCTGGGCACCCTCTAAGCTTTGCAGATACTGGCCCATTTAACCCCACAATCCTGGGAGGTAGGTCCTATTGCTCCTATTCACCGAAGGGGATACTGAGGCCCAGGCAGGTGATAACCTGCCCACATTCTCACAGTGGGTAATGCAGAGCTGAGCAGCCTGGCTGTAAGACCTGAGGTGGGAGAGTAGCAGAAGAGGGGTGGGGGCACAGCCAAGGTTTGGGGAGGAAGACAGGGATCTGGTGGGGGGAGCATGGGTAGGTTGCAGGGATGGCAGGCGGATGGCCCTCACTCAGCCTTCTGGGGTGGGGGCAGGGACACCCAGACAGACAGCGCCAGAGCCTGGGGTGGGCTGTTGCTATAGCAACAGCTGGCTCCAGCTCCCAGTGCACCCACCCTCCTTGGAGATGGGGGGGGTTCCTCCTGCCCCATTTCACGAGCCTGCTGGGAAGTGATGGGTGGTAGCCACCCCTCTGACATGACTTATTAATGATAATTGGACCCAATTAAACATTTATTAAATCCAGACAGCTGCAGCCGCTAACGGACCCTTCCCTGATCCTGGGTGGGCCATGCTGGGGGTGGGGGTGCTCAGGATGGGCTGCCGCAGGGGCTCTGGGTTTTAACGTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTG	pathogenic	67
Evaluate if the mutation on chromosome 1 at position 1040819 in AGRN is benign or pathogenic. Disease name(s) if pathogenic?	pathogenic; ['Congenital_myasthenic_syndrome_8']	ATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGGGCCACATAGCGCTGTGTGCTGGGCACCCTCTAAGCTTTGCAGATACTGGCCCATTTAACCCCACAATCCTGGGAGGTAGGTCCTATTGCTCCTATTCACCGAAGGGGATACTGAGGCCCAGGCAGGTGATAACCTGCCCACATTCTCACAGTGGGTAATGCAGAGCTGAGCAGCCTGGCTGTAAGACCTGAGGTGGGAGAGTAGCAGAAGAGGGGTGGGGGCACAGCCAAGGTTTGGGGAGGAAGACAGGGATCTGGTGGGGGGAGCATGGGTAGGTTGCAGGGATGGCAGGCGGATGGCCCTCACTCAGCCTTCTGGGGTGGGGGCAGGGACACCCAGACAGACAGCGCCAGAGCCTGGGGTGGGCTGTTGCTATAGCAACAGCTGGCTCCAGCTCCCAGTGCACCCACCCTCCTTGGAGATGGGGGGGGTTCCTCCTGCCCCATTTCACGAGCCTGCTGGGAAGTGATGGGTGGTAGCCACCCCTCTGACATGACTTATTAATGATAATTGGACCCAATTAAACATTTATTAAATCCAGACAGCTGCAGCCGCTAACGGACCCTTCCCTGATCCTGGGTGGGCCATGCTGGGGGTGGGGGTGCTCAGGATGGGCTGCCGCAGGGGCTCTGGGTTTTAACGTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCAG	ATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGGGCCACATAGCGCTGTGTGCTGGGCACCCTCTAAGCTTTGCAGATACTGGCCCATTTAACCCCACAATCCTGGGAGGTAGGTCCTATTGCTCCTATTCACCGAAGGGGATACTGAGGCCCAGGCAGGTGATAACCTGCCCACATTCTCACAGTGGGTAATGCAGAGCTGAGCAGCCTGGCTGTAAGACCTGAGGTGGGAGAGTAGCAGAAGAGGGGTGGGGGCACAGCCAAGGTTTGGGGAGGAAGACAGGGATCTGGTGGGGGGAGCATGGGTAGGTTGCAGGGATGGCAGGCGGATGGCCCTCACTCAGCCTTCTGGGGTGGGGGCAGGGACACCCAGACAGACAGCGCCAGAGCCTGGGGTGGGCTGTTGCTATAGCAACAGCTGGCTCCAGCTCCCAGTGCACCCACCCTCCTTGGAGATGGGGGGGGTTCCTCCTGCCCCATTTCACGAGCCTGCTGGGAAGTGATGGGTGGTAGCCACCCCTCTGACATGACTTATTAATGATAATTGGACCCAATTAAACATTTATTAAATCCAGACAGCTGCAGCCGCTAACGGACCCTTCCCTGATCCTGGGTGGGCCATGCTGGGGGTGGGGGTGCTCAGGATGGGCTGCCGCAGGGGCTCTGGGTTTTAACGTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCA	pathogenic	69
A genetic variant on chromosome 1, position 1041678, affects the gene AGRN (agrin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?	pathogenic; ['Congenital_myasthenic_syndrome_8', 'Presynaptic_congenital_myasthenic_syndrome']	GTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCAGGCTCCTCCCACCCACAGAGAGCCCCCCCACATGCATGGGTGTCCTGGGGATGCTGGTGGTCAGGGGTCAGTGGCCTGGGCAGGCTGGGGAAGCCTGGCCCTCCCATAGCCTGCTGTGGACAATCAGGAAGCCCCAAGCTTGGGGGCAGCCTCGCCCGCAGCCACCGGGGACTCCTGGGTGTGTGTTCCGCTCGCCTCTGCCGCGTGTCTGTCCCTTTCTCTGCCGTGTCTGCTGTGCATCTGGCCCTTCTCCTGTGTTCTCTCTTCCTCCACCATCCCCTCCCTGGAAGAGGGACTGCTGCGTGGGGCTGGGGGCTTTGCCTGCAGCGGAGGGGGGGCTTGTGGGACCACTGAGCCCCTGTGTCCTTCCCAGACCAGGCCCCGTCCCCATGCCTCGGGGTGCAGTGTGCATTTGGGGCGACGTGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATGCCTGCAGGCGTGCTCGAGCCTCTACGATCCTGTGTGCGGCAGCGACGGCGTCACATACGGCAGCGCGTGCGAGCTGGAGGCCACGGCCTGTACCCTCGGGCGGGAGATCCAGGTGGCGCGCAAAGGACCCTGTGGTCAGTGGCGGGTGAGGGGTCTGGTGGGGGTCGGGGAGAGAGAGGTTCCTGGTCGCCTGGTGATGGAAGCTCCTCCCCAGACCGCTGCGGGCAGTGCCGCTTTGGAGCCCTGTGCGAGGCCGAGACCGGGCGCTGCGTGTGCCCCTCTGAATGCGTGGCTTTGGCCCAGCCCGTGTGTGGCTCCGACGGGCACACGTACCCCAGCGAGTGCATGCTGCACGTGCACGCCTGCACACACCAGATCAGCCTGCACGTGGCCTCAGCTGGA	GTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCAGGCTCCTCCCACCCACAGAGAGCCCCCCCACATGCATGGGTGTCCTGGGGATGCTGGTGGTCAGGGGTCAGTGGCCTGGGCAGGCTGGGGAAGCCTGGCCCTCCCATAGCCTGCTGTGGACAATCAGGAAGCCCCAAGCTTGGGGGCAGCCTCGCCCGCAGCCACCGGGGACTCCTGGGTGTGTGTTCCGCTCGCCTCTGCCGCGTGTCTGTCCCTTTCTCTGCCGTGTCTGCTGTGCATCTGGCCCTTCTCCTGTGTTCTCTCTTCCTCCACCATCCCCTCCCTGGAAGAGGGACTGCTGCGTGGGGCTGGGGGCTTTGCCTGCAGCGGAGGGGGGGCTTGTGGGACCACTGAGCCCCTGTGTCCTTCCCAGACCAGGCCCCGTCCCCATGCCTCGGGGTGCAGTGTGCATTTGGGGCGACGTGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATGCCTGCAGGCGTGCTCGAGCCTCTACGATCCTGTGTGCGGCAGCGACGGCGTCACATACGGCAGCGCGTGCGAGCTGGAGGCCACGGCCTGTACCCTCGGGCGGGAGATCCAGGTGGCGCGCAAAGGACCCTGTGGTCAGTGGCGGGTGAGGGGTCTGGTGGGGGTCGGGGAGAGAGAGGTTCCTGGTCGCCTGGTGATGGAAGCTCCTCCCCAGACCGCTGCGGGCAGTGCCGCTTTGGAGCCCTGTGCGAGGCCGAGACCGGGCGCTGCGTGTGCCCCTCTGAATGCGTGGCTTTGGCCCAGCCCGTGTGTGGCTCCGACGGGCACACGTACCCCAGCGAGTGCATGCTGCACGTGCACGCCTGCACACACCAGATCAGCCTGCACGTGGCCTCAGCTGGANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	pathogenic	80
A genetic variant at chromosome 1, position 1043223, affecting gene AGRN (agrin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).	benign	TCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCAGGCTCCTCCCACCCACAGAGAGCCCCCCCACATGCATGGGTGTCCTGGGGATGCTGGTGGTCAGGGGTCAGTGGCCTGGGCAGGCTGGGGAAGCCTGGCCCTCCCATAGCCTGCTGTGGACAATCAGGAAGCCCCAAGCTTGGGGGCAGCCTCGCCCGCAGCCACCGGGGACTCCTGGGTGTGTGTTCCGCTCGCCTCTGCCGCGTGTCTGTCCCTTTCTCTGCCGTGTCTGCTGTGCATCTGGCCCTTCTCCTGTGTTCTCTCTTCCTCCACCATCCCCTCCCTGGAAGAGGGACTGCTGCGTGGGGCTGGGGGCTTTGCCTGCAGCGGAGGGGGGGCTTGTGGGACCACTGAGCCCCTGTGTCCTTCCCAGACCAGGCCCCGTCCCCATGCCTCGGGGTGCAGTGTGCATTTGGGGCGACGTGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATGCCTGCAGGCGTGCTCGAGCCTCTACGATCCTGTGTGCGGCAGCGACGGCGTCACATACGGCAGCGCGTGCGAGCTGGAGGCCACGGCCTGTACCCTCGGGCGGGAGATCCAGGTGGCGCGCAAAGGACCCTGTGGTCAGTGGCGGGTGAGGGGTCTGGTGGGGGTCGGGGAGAGAGAGGTTCCTGGTCGCCTGGTGATGGAAGCTCCTCCCCAGACCGCTGCGGGCAGTGCCGCTTTGGAGCCCTGTGCGAGGCCGAGACCGGGCGCTGCGTGTGCCCCTCTGAATGCGTGGCTTTGGCCCAGCCCGTGTGTGGCTCCGACGGGCACACGTACCCCAGCGAGTGCATGCTGCACGTGCACGCCTGCACACACCAGATCAGCCTGCACGTGGCCTCAGCTGGACCCTGTGGTGAGTGAGGCCCTGGGGCCGGGCGGGCCAGGGTCCTGTGCCTCCCTCAGCCTGGGCCTGCCGACCCCTGCCTGGCTCTGTCTCCTGCAGAGACCTGTGGAGATGCCGTGTGTGCTTTTGGGGCTGTGTGCTCCGCAGGGCAGTGTGTGTGTCCCCGGTGTGAGCACCCCCCGCCCGGCCCCGTGTGTGGCAGCGACGGTGTCACCTACGGCAGTGCCTGCGAGCTACGGGAAGCCGCCTGCCTCCAGCAGACACAGATCGAGGAGGCCCGGGCAGGGCCGTGCGAGCAGGGTAGGCCGGGGGACGCTGGCGAAAACTGCTGGGCTCTGGCTTTGGACAAGAAGCCCCTGGGTGACTCTGCTCCCCTTCCCCGCAGCCGAGTGCGGTTCCGGAGGCTCTGGCTCTGGGGAGGACGGTGACTGTGAGCAGGAGCTGTGCCGGCAGCGCGGTGGCATCTGGGACGAGGACTCGGAGGACGGGCCGTGTGTCTGTGACTTCAGCTGCCAGAGTGTCCCAGGCAGCCCGGTGAGCTCTGTACCCCTGGCTCTCGGCGGGCGGCGGGGACGGGGCTGCGGCCGCTCACACTGACACCACCCTCCAGGTGTGCGGCTCAGATGGGGTCACCTACAGCACCGAGTGTGAGCTGAAGAAGGCCAGGTGTGAGTCACAGCGAGGGCTCTACGTAGCGGCCCAGGGAGCCTGCCGAGGTGAGCCGGCTGCACGTGGGGTCTCAGGCACAGGCGGGGCGGCGTCTGGGTTTCCGTGTCTGGATGTGGGCGTGCCCGTGTGCTGCGTTGGGCCCCTGTGGACGTGTGTATTGTGTTGTAAGTGAGCATCGTCCAGTGTTGGTGCCTGTGCACATTTGTGCAGCTGCGTGTGTGGGCGTGTGTGTCCATCAGTCAGTGGGCGTGCACCAGGCCAGGCCTCAGTGCTGAGAGGCAGCGTGAACCATGCGGGGCCCCACCGTGTGGGCACTTTCTCTGCATACGTCCATCCGGTCGATGTATCACATCAATTAGGTAAAAGTGGTGCCCGGTGTGTGTGATGCGCGTGCACAGATGTGTGTCTGCAGAGGGGCGTTAACTGTACGGTTTGGAGGAATGTGGGTGAGAACGCATGCTGACGTCTTCAGATGTCTGTTTCTCGATTTGCAAGGAAGCTCGCGTGTGTGTGTGCACAGAGCTGCGTGTCCGTGATCTTTGGATGCTCTGTGTGTTGTGTGTTCCTGGATCTGCATTTACAGACATGTTCTTGCGTAAGATGTGGGAGCCTCACCTGTGTCCTCAGCCCCAGGCTCCCGGGCTCCTCTGGGAGCTGGGATCGGGACGGCTGAGTGGTGACAGTGGGGGTAGGTGGAGGCAGACTGGCTGGGTCCAGGGTGGGTGTCCAGCACTGCATGAAATCTGAGTCCCGTACCCTTTCCTGCAGGCCCCACCTTCGCCCCGCTGCCGCCTGTGGCCCCCTTACACTGTGCCCAGACGCCCTACGGCTGCTGCCAGGACAATATCACCGCAGCCCGGGGCGTGGGCCTGGCTGGC	TCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCAGGCTCCTCCCACCCACAGAGAGCCCCCCCACATGCATGGGTGTCCTGGGGATGCTGGTGGTCAGGGGTCAGTGGCCTGGGCAGGCTGGGGAAGCCTGGCCCTCCCATAGCCTGCTGTGGACAATCAGGAAGCCCCAAGCTTGGGGGCAGCCTCGCCCGCAGCCACCGGGGACTCCTGGGTGTGTGTTCCGCTCGCCTCTGCCGCGTGTCTGTCCCTTTCTCTGCCGTGTCTGCTGTGCATCTGGCCCTTCTCCTGTGTTCTCTCTTCCTCCACCATCCCCTCCCTGGAAGAGGGACTGCTGCGTGGGGCTGGGGGCTTTGCCTGCAGCGGAGGGGGGGCTTGTGGGACCACTGAGCCCGTGTCCTTCCCAGACCAGGCCCCGTCCCCATGCCTCGGGGTGCAGTGTGCATTTGGGGCGACGTGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATGCCTGCAGGCGTGCTCGAGCCTCTACGATCCTGTGTGCGGCAGCGACGGCGTCACATACGGCAGCGCGTGCGAGCTGGAGGCCACGGCCTGTACCCTCGGGCGGGAGATCCAGGTGGCGCGCAAAGGACCCTGTGGTCAGTGGCGGGTGAGGGGTCTGGTGGGGGTCGGGGAGAGAGAGGTTCCTGGTCGCCTGGTGATGGAAGCTCCTCCCCAGACCGCTGCGGGCAGTGCCGCTTTGGAGCCCTGTGCGAGGCCGAGACCGGGCGCTGCGTGTGCCCCTCTGAATGCGTGGCTTTGGCCCAGCCCGTGTGTGGCTCCGACGGGCACACGTACCCCAGCGAGTGCATGCTGCACGTGCACGCCTGCACACACCAGATCAGCCTGCACGTGGCCTCAGCTGGACCCTGTGGTGAGTGAGGCCCTGGGGCCGGGCGGGCCAGGGTCCTGTGCCTCCCTCAGCCTGGGCCTGCCGACCCCTGCCTGGCTCTGTCTCCTGCAGAGACCTGTGGAGATGCCGTGTGTGCTTTTGGGGCTGTGTGCTCCGCAGGGCAGTGTGTGTGTCCCCGGTGTGAGCACCCCCCGCCCGGCCCCGTGTGTGGCAGCGACGGTGTCACCTACGGCAGTGCCTGCGAGCTACGGGAAGCCGCCTGCCTCCAGCAGACACAGATCGAGGAGGCCCGGGCAGGGCCGTGCGAGCAGGGTAGGCCGGGGGACGCTGGCGAAAACTGCTGGGCTCTGGCTTTGGACAAGAAGCCCCTGGGTGACTCTGCTCCCCTTCCCCGCAGCCGAGTGCGGTTCCGGAGGCTCTGGCTCTGGGGAGGACGGTGACTGTGAGCAGGAGCTGTGCCGGCAGCGCGGTGGCATCTGGGACGAGGACTCGGAGGACGGGCCGTGTGTCTGTGACTTCAGCTGCCAGAGTGTCCCAGGCAGCCCGGTGAGCTCTGTACCCCTGGCTCTCGGCGGGCGGCGGGGACGGGGCTGCGGCCGCTCACACTGACACCACCCTCCAGGTGTGCGGCTCAGATGGGGTCACCTACAGCACCGAGTGTGAGCTGAAGAAGGCCAGGTGTGAGTCACAGCGAGGGCTCTACGTAGCGGCCCAGGGAGCCTGCCGAGGTGAGCCGGCTGCACGTGGGGTCTCAGGCACAGGCGGGGCGGCGTCTGGGTTTCCGTGTCTGGATGTGGGCGTGCCCGTGTGCTGCGTTGGGCCCCTGTGGACGTGTGTATTGTGTTGTAAGTGAGCATCGTCCAGTGTTGGTGCCTGTGCACATTTGTGCAGCTGCGTGTGTGGGCGTGTGTGTCCATCAGTCAGTGGGCGTGCACCAGGCCAGGCCTCAGTGCTGAGAGGCAGCGTGAACCATGCGGGGCCCCACCGTGTGGGCACTTTCTCTGCATACGTCCATCCGGTCGATGTATCACATCAATTAGGTAAAAGTGGTGCCCGGTGTGTGTGATGCGCGTGCACAGATGTGTGTCTGCAGAGGGGCGTTAACTGTACGGTTTGGAGGAATGTGGGTGAGAACGCATGCTGACGTCTTCAGATGTCTGTTTCTCGATTTGCAAGGAAGCTCGCGTGTGTGTGTGCACAGAGCTGCGTGTCCGTGATCTTTGGATGCTCTGTGTGTTGTGTGTTCCTGGATCTGCATTTACAGACATGTTCTTGCGTAAGATGTGGGAGCCTCACCTGTGTCCTCAGCCCCAGGCTCCCGGGCTCCTCTGGGAGCTGGGATCGGGACGGCTGAGTGGTGACAGTGGGGGTAGGTGGAGGCAGACTGGCTGGGTCCAGGGTGGGTGTCCAGCACTGCATGAAATCTGAGTCCCGTACCCTTTCCTGCAGGCCCCACCTTCGCCCCGCTGCCGCCTGTGGCCCCCTTACACTGTGCCCAGACGCCCTACGGCTGCTGCCAGGACAATATCACCGCAGCCCGGGGCGTGGGCCTGGCTGGCNN	benign	90
Clinical classification of chromosome 1, position 1048791, gene AGRN (agrin): benign or pathogenic? Disease(s) if pathogenic?	benign	GGGATCAAGGACTTGGGGTGGGTGGGCAGGCGCCGAGAGGCTCCACCAGAGCCTGGGCTCAGAGCGCGTCTCCCCAGGGCTCGAGCCCTTGGAGGGCAGCAGCGTGGCCACCCCTGGGCCACCTGTCGAGAGGGCTTCCTGCTACAACTCCGCGTTGGGCTGCTGCTCTGATGGGAAGACGCCCTCGCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGGGACTCGGCCCCCTCAAACATGTGCGTGCCGGGGACCCCACGCCTAACCCGTCTCTCTCGTTGCAAGCCGGTGTGGCACACTGCTCTGAGGAGTCCTCCTGGTAACCGACACCAGCCCCACCCTGGGGTCCCCACTAACCTCATGACCATCTGACTAACATCCACCTTCCCTTGCACCCTTGTGGCTTGCTGCTGGGGCCTGTGCCTGGGCCAGCCTGGATGCCAGGCAGATGCCAGGCAGGGCCTCACTGTACCTCCCCCACAGCCACCAAGGTGTTCCAGGGCGTCCTGGAGCTGGAGGGCGTCGAGGGCCAGGAGCTGTTCTACACGCCCGAGATGGCTGACCCCAAGTCAGAACTGTTCGGGGAGACAGCCAGGAGCATTGAGAGCACCGTAAGACGGGGGCGCAGCCCCCACCTACCCACTGGCCTTCCTCCCCAGATACCCAGAGCAGCACCAGGGCAGCCCGGCTTGGGCGGCCCCCCAAGTCCTTGCCTACTCCCTGCCACAGCTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCAGTGAGACCTGCACCCTGGACCCTTCCTGGGAGGCAATGGGTGGGGGATGCCTGGGGCTCTGCCATGCTCAGAGCTCCCTCCTCCCCAGCCACAGCCTTCAGGGCACCCGACGTGGCCCGGGCCCTGCTCCGGCAGATCCAGGTGTCCAGGCGCCGGTCCTTGGGGGTGAGGCGGCCGCTGCAGGAGCACGTGCGATTTATGGACTTTGGTGAGCGCCAGGCCACGAGCCACAGCTTACCTGCCCCCTCCTCTGCCCATGCCCCTGCCCCTCACCCCTTCCTGGCCCTGCTCCCAGGAAACCCTAACAGCTCCCTGTGCCGGCAGACTGGTTTCCTGCGTTTATCACGGGGGCCACGTCAGGAGCCATTGCTGCGGGAGCCACGGCCAGAGCCACCACTGCATCGCGCCTGCCGTCCTCTGCTGTGACCCCTCGGGCCCCGCACCCCAGTCACACAAGCCAGCCCGTTGCCAAGACCACGGCAGCCCCCACCACACGTCGGCCCCCCACCACTGCCCCCAGCCGTGTGCCCGGACGTCGGCCCCCGGCCCCCCAGCAGCCTCCAAAGCCCTGTGACTCACAGCCCTGCTTCCACGGGGGGACCTGCCAGGACTGGGCATTGGGCGGGGGCTTCACCTGCAGCTGCCCGGCAGGCAGGGGAGGCGCCGTCTGTGAGAAGGGTAAGGATGTCCACTGCAGAGGAGGGCGGGGAGGCAGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGG	GGGATCAAGGACTTGGGGTGGGTGGGCAGGCGCCGAGAGGCTCCACCAGAGCCTGGGCTCAGAGCGCGTCTCCCCAGGGCTCGAGCCCTTGGAGGGCAGCAGCGTGGCCACCCCTGGGCCACCTGTCGAGAGGGCTTCCTGCTACAACTCCGCGTTGGGCTGCTGCTCTGATGGGAAGACGCCCTCGCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGGGACTCGGCCCCCTCAAACATGTGCGTGCCGGGGACCCCACGCCTAACCCGTCTCTCTCGTTGCAAGCCGGTGTGGCACACTGCTCTGAGGAGTCCTCCTGGTAACCGACACCAGCCCCACCCTGGGGTCCCCACTAACCTCATGACCATCTGACTAACATCCACCTTCCCTTGCACCCTTGTGGCTTGCTGCTGGGGCCTGTGCCTGGGCCAGCCTGGATGCCAGGCAGATGCCAGGCAGGGCCTCACTGTACCTCCCCCACAGCCACCAAGGTGTTCCAGGGCGTCCTGGAGCTGGAGGGCGTCGAGGGCCAGGAGCTGTTCTACACGCCCGAGATGGCTGACCCCAAGTCAGAACTGTTCGGGGAGACAGCCAGGAGCATTGAGAGCACCGTAAGACGGGGGCGCAGCCCCCACCTACCCACTGGCCTTCCTCCCCAGATACCCAGAGCAGCACCAGGGCAGCCCGGCTTGGGCGGCCCCCCAAGTCCTTGCCTACTCCCTGCCACAGCTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCAGTGAGACCTGCACCCTGGACCCTTCCTGGGAGGCAATGGGTGGGGGATGCCTGGGGCTCTGCCATGCTCAGAGCTCCCTCCTCCCCAGCCACAGCCTTCAGGGCACCCGACGTGGCCCGGGCCCTGCTCCGGCAGATCCAGGTGTCCAGGCGCCGGTCCTTGGGGGTGAGGCGGCCGCTGCAGGAGCACGTGCGATTTATGGACTTTGGTGAGCGCCAGGCCACGAGCCACAGCTTACCTGCCCCCTCCTCTGCCCATGCCCCTGCCCCTCACCCCTTCCTGGCCCTGCTCCCAGGAAACCCTAACAGCTCCCTGTGCCGGCAGACTGGTTTCCTGCGTTTATCACGGGGGCCACGTCAGGAGCCATTGCTGCGGGAGCCACGGCCAGAGCCACCACTGCATCGCGCCTGCCGTCCTCTGCTGTGACCCCTCGGGCCCCGCACCCCAGTCACACAAGCCAGCCCGTTGCCAAGACCACGGCAGCCCCCACCACACGTCGGCCCCCCACCACTGCCCCCAGCCGTGTGCCCGGACGTCGGCCCCCGGCCCCCCAGCAGCCTCCAAAGCCCTGTGACTCACAGCCCTGCTTCCACGGGGGGACCTGCCAGGACTGGGCATTGGGCGGGGGCTTCACCTGCAGCTGCCCGGCAGGCAGGGGAGGCGCCGTCTGTGAGAAGGGTAAGGATGTCCACTGCAGAGGAGGGCGGGGAGGCAGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGNN	benign	166
Gene AGRN (agrin) variant at chromosome 1, position 1048977—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic; ['Congenital_myasthenic_syndrome_8']	GCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGGGACTCGGCCCCCTCAAACATGTGCGTGCCGGGGACCCCACGCCTAACCCGTCTCTCTCGTTGCAAGCCGGTGTGGCACACTGCTCTGAGGAGTCCTCCTGGTAACCGACACCAGCCCCACCCTGGGGTCCCCACTAACCTCATGACCATCTGACTAACATCCACCTTCCCTTGCACCCTTGTGGCTTGCTGCTGGGGCCTGTGCCTGGGCCAGCCTGGATGCCAGGCAGATGCCAGGCAGGGCCTCACTGTACCTCCCCCACAGCCACCAAGGTGTTCCAGGGCGTCCTGGAGCTGGAGGGCGTCGAGGGCCAGGAGCTGTTCTACACGCCCGAGATGGCTGACCCCAAGTCAGAACTGTTCGGGGAGACAGCCAGGAGCATTGAGAGCACCGTAAGACGGGGGCGCAGCCCCCACCTACCCACTGGCCTTCCTCCCCAGATACCCAGAGCAGCACCAGGGCAGCCCGGCTTGGGCGGCCCCCCAAGTCCTTGCCTACTCCCTGCCACAGCTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCAGTGAGACCTGCACCCTGGACCCTTCCTGGGAGGCAATGGGTGGGGGATGCCTGGGGCTCTGCCATGCTCAGAGCTCCCTCCTCCCCAGCCACAGCCTTCAGGGCACCCGACGTGGCCCGGGCCCTGCTCCGGCAGATCCAGGTGTCCAGGCGCCGGTCCTTGGGGGTGAGGCGGCCGCTGCAGGAGCACGTGCGATTTATGGACTTTGGTGAGCGCCAGGCCACGAGCCACAGCTTACCTGCCCCCTCCTCTGCCCATGCCCCTGCCCCTCACCCCTTCCTGGCCCTGCTCCCAGGAAACCCTAACAGCTCCCTGTGCCGGCAGACTGGTTTCCTGCGTTTATCACGGGGGCCACGTCAGGAGCCATTGCTGCGGGAGCCACGGCCAGAGCCACCACTGCATCGCGCCTGCCGTCCTCTGCTGTGACCCCTCGGGCCCCGCACCCCAGTCACACAAGCCAGCCCGTTGCCAAGACCACGGCAGCCCCCACCACACGTCGGCCCCCCACCACTGCCCCCAGCCGTGTGCCCGGACGTCGGCCCCCGGCCCCCCAGCAGCCTCCAAAGCCCTGTGACTCACAGCCCTGCTTCCACGGGGGGACCTGCCAGGACTGGGCATTGGGCGGGGGCTTCACCTGCAGCTGCCCGGCAGGCAGGGGAGGCGCCGTCTGTGAGAAGGGTAAGGATGTCCACTGCAGAGGAGGGCGGGGAGGCAGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGTGAGTGCTCTGGGCCGCGAGGGGACTCCCGCTGCTGCCTGCTCTTCCTCCTCGGGCGGCAGCCCCGCCCCTGCCGGCGCTCACGGAGCTGTTTTTCTGTCCTGTTCTCTTGGCCGCCTGCCCTGTCCTCTGCCTCCTCTGCCTCCCTGCTCTCTGCTCTCGCTCTGCAACCCCACCCGCTCTTCGG	GCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGGGACTCGGCCCCCTCAAACATGTGCGTGCCGGGGACCCCACGCCTAACCCGTCTCTCTCGTTGCAAGCCGGTGTGGCACACTGCTCTGAGGAGTCCTCCTGGTAACCGACACCAGCCCCACCCTGGGGTCCCCACTAACCTCATGACCATCTGACTAACATCCACCTTCCCTTGCACCCTTGTGGCTTGCTGCTGGGGCCTGTGCCTGGGCCAGCCTGGATGCCAGGCAGATGCCAGGCAGGGCCTCACTGTACCTCCCCCACAGCCACCAAGGTGTTCCAGGGCGTCCTGGAGCTGGAGGGCGTCGAGGGCCAGGAGCTGTTCTACACGCCCGAGATGGCTGACCCCAAGTCAGAACTGTTCGGGGAGACAGCCAGGAGCATTGAGAGCACCGTAAGACGGGGGCGCAGCCCCCACCTACCCACTGGCCTTCCTCCCCAGATACCCAGAGCAGCACCAGGGCAGCCCGGCTTGGGCGGCCCCCCAAGTCCTTGCCTACTCCCTGCCACAGCTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCAGTGAGACCTGCACCCTGGACCCTTCCTGGGAGGCAATGGGTGGGGGATGCCTGGGGCTCTGCCATGCTCAGAGCTCCCTCCTCCCCAGCCACAGCCTTCAGGGCACCCGACGTGGCCCGGGCCCTGCTCCGGCAGATCCAGGTGTCCAGGCGCCGGTCCTTGGGGGTGAGGCGGCCGCTGCAGGAGCACGTGCGATTTATGGACTTTGGTGAGCGCCAGGCCACGAGCCACAGCTTACCTGCCCCCTCCTCTGCCCATGCCCCTGCCCCTCACCCCTTCCTGGCCCTGCTCCCAGGAAACCCTAACAGCTCCCTGTGCCGGCAGACTGGTTTCCTGCGTTTATCACGGGGGCCACGTCAGGAGCCATTGCTGCGGGAGCCACGGCCAGAGCCACCACTGCATCGCGCCTGCCGTCCTCTGCTGTGACCCCTCGGGCCCCGCACCCCAGTCACACAAGCCAGCCCGTTGCCAAGACCACGGCAGCCCCCACCACACGTCGGCCCCCCACCACTGCCCCCAGCCGTGTGCCCGGACGTCGGCCCCCGGCCCCCCAGCAGCCTCCAAAGCCCTGTGACTCACAGCCCTGCTTCCACGGGGGGACCTGCCAGGACTGGGCATTGGGCGGGGGCTTCACCTGCAGCTGCCCGGCAGGCAGGGGAGGCGCCGTCTGTGAGAAGGGTAAGGATGTCCACTGCAGAGGAGGGCGGGGAGGCAGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGTGAGTGCTCTGGGCCGCGAGGGGACTCCCGCTGCTGCCTGCTCTTCCTCCTCGGGCGGCAGCCCCGCCCCTGCCGGCGCTCACGGAGCTGTTTTTCTGTCCTGTTCTCTTGGCCGCCTGCCCTGTCCTCTGCCTCCTCTGCCTCCCTGCTCTCTGCTCTCGCTCTGCAACCCCACCCGCTCTTCGGNN	pathogenic	172
Does the variant impacting DVL1 (dishevelled segment polarity protein 1) on chromosome 1, position 1338096, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Autosomal_dominant_Robinow_syndrome_2']	TCCTGGCCCCCACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCGGCCGGACGCTCTCGCCAGCTGCTCCCCACCCCACTCGGTGCCGTGTGATCCGATTCACTGCCACTGCCCCCAGCTCCCGCCGCCCGACGCTCCTTCTCACGGCCCGGGGCCCGGCGGCTGCTCCGGGTGGACCCACTGCTTTTGCTCCCTGGGAGTGAGAACAGGATGGGGAAGGAGCCTGTCAGCACCAGGCCCGGCCACGTCCAGAACAACCGCCCCCGCCAGGTGACCGGGCAGGAACGGTGGCCCGTGCAGGACGGGTGGGTGGGGCAGCCATGCAGGCGCGAGGACAGGGCCGGCACCCCCAGGGTCGCAGGGGCAGCTGCGGCAGGCATGGGCTGGTGGGGGCAGTGGGAGGCAGGCAGGGTCCTGGGGCAAGCTGGGCGCCCCCACACCTCACCCCGATGCTTGAGCTGAGGGCCTGGTCTTGCGGCTGAAAGACTGAGGTGCCAGCGAGGGCCCCTCATGCCCGGTGCCCCCGTGGCCATCCTGGATTCCCCACCCAAGGCCCCACTGTCCCCCCGGCCCAGGACCCTGGCCGACGGATGACTCAGCTCAGCCCTGTCCTGGGCTCCCAAGACGCAGTGGGAGCTGGAGGGCGTGGCTGGCTGGGGACATGCTGAGGGACCCCGGGCGGGACCCTGGCTTACCGGCCCAAGGTCCGCTCCGCTAGTCCTTCAGTCTAAGGCTTGTTTAGCACAAGACAAGGGATAGCACGAGTTACACGCCCGGCTGCCTGGCACCTGCCCAGCACCCACCCGCCACCAGTGGGGACTGACCGCGGGCTGGGCGGGGCTGAAGTGGGCGCAAGCGCCGGTCGAGGGTCAGTAGACACCCAGCGTGGCTTCTCTGCGGTCCCACACCCTCTGGCCGCCTCTCCTCTCTCGCCCTCCTTCCTGGGCCCTCCACGAAGCCACCTGCACCCCTCCCTGGCCTGCAGACGCCCCTGCTGGCCTCACCAACCCCACCCACTGGGGCCTCTGCTCCACCAGGCAACACCTCAGGAACACTCTGGATCCCCGGCCCCTAAACACACCCCAGCCAGGGGCACAAGGCTAGGATGCACGGCACCATCCACGTCAGGCTCCCTACCCGGGCTGCAGCTGCCACCCTCCTGTGTCCTGGGGCCTAGAAAGTGACCCTGTCAGACTCCTTGGCCACCCCTGCCCTGTCCTTGTCACATGGCCCATGGCCACATGGTCTCAGGGCCTCCTGCCTCTACCATAGGAGAACCACCAGCCGCCACCCCTACCAGGCACAGCCGCCCAGGCCGCCAGGCTCCTGGAGGCCCCTCATCCCAATCCCACCCAGATGAGGTGGGGTCCAGGCTGCCCCTGTGTGAGACGCTTCCCTGTCCTCCCCATTCACACTGGCTCCTGGATCCCCCTGGCACTTGCCTTTTCCAGAAGGAGCCCACCCAGGGCCCAAGTACACAGCAGGAGCATGGGATTGGGGTCAGCAGAGAAGCAGGGCGGAGCAGCAGCGGGGTGGGGTGGAGCTGGGGGTGGAGCAGCAGCGGGGTGGGGTGGAACTGGGGGCGGAGCAGCAGTGGAGTGGGGCGGAGCTGGGGGCGGAGCCGGGGAAGGGCAGGTAGGGGCGGCGTTCTCACCTTCACTCTGCTGACTCCCGGTGCTGCCGCTGCCATAGCTAAAGCCCGGGTCCTGGTAGGCAGGCGGGAAGCAGGGTGGGGGTCCCGGGTACTGGTAGGGGTAGCCCTGACCCAGAGGCCAGGGGGCAGCCGGGTGGGGCAGCGGGGCCAGCGTGTCCTGATCCGAAGTCCCACTGGAGCCACTGTTGAGGTTCAGGGTGGCGAGATCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCACTGCTGCAGAGATCCCCGAAGACGTAGTAGCACTGCTCGGAGAAGGTGATCTTGTTGACCGTGTGCCGCAGGAAGCCGTGCTTCAGCAAGCTGCTGGCGTACTTCCGGGCCTCCCGCCGCTCCTTGAAGCCCTCCACGTGTGTGTACAGCCAGTCCACCACGTCCGCCCCTGGCCGGCACCAGCGGTCAGCCCGCAGCCTCGAGGCAAGCAGCCCTGCCCCTGGCACTATCCGCCCGCGGGGACGGCCACTCACCGATGACGGCATTGGCGATGGTGATCTTGAGCCACATGCGGTCGCGGATCTCCAGTCCCGAGTCTGGCAGCTGCATGACCCGGACGACGGCGCTCATGTCACTCTTCACCGTCAGCGGCGCCTCTTCCAGCTCTGCAAAGCACAGACAGCCCCGCTTCAGCCCCAGCATCTGAAGGCGGGGGACTCAGGGCCCTGCACCCCCAGGGGAGCCTCTGGGCAGAGCCTGCGCCAGGGCGCAAGCTGGACGGTGCGTGACAGCAGGGCCCCGGCCCACTGCAGGATGCACCCCCGTGAGGCTGGGGCGTGAGCAGGGGGGTTGGACATTTAGTCTCCCACTTCTACAGACACTTTTCATCAGGATCCTAGGCACAAACTGGGCTGACACCCCACCCTGCAGACCAGGAAGTAATGAGAACAGGGCAGGCCCCTTCCCCTCCCCGCATGCCCCACCCGAGAGCGCAGGCTGTTAGTCGTGTTAATGGCAGGAAGCAGAATGGAGACCTGGCCCCTGCCTCTGACGCCGTGGGTGCTCCCCGCATAGGGGCCCTACGTACATCCCCTGTTCCCAACACACAGACCATGAGCAGGATGGGCTGCACAAGGTGGGCACGGGTGCCTGTGCACACGTCTGTGCAGGGAGTTGGGGACAGGCAACACACACGTGTCACAGCCCCATGACGGCCACAGGCGGCCATGCTGGAGGCTGGCAGAGACGCCCCCTCCAAGCCTCGGTTTCTGCTGGGGCCCTCAGGAGCTGCCACTTACGTGGAGCACCAGGCACGGAGCTGGTTAGTGAGGAGGAGCTGGTGCGCGTGACGGCGCTGGAGCAGGGACTCGTACCGTAGCGGGGCAGGGCTCCTGTCAGTGCCGCCGTGTGGGACAGCCAGGCGGCGGGGTCGATGGGCCGCACCGGGTCAGCTGGGTGGCCGCCACGTGGCGATGACAGGCGGACAGATGGACAGGGTGGGAGGGCAGGGTGCAGGGCACAGAGGAGAGAGGCCTTCAGGCTAGGTAGGCGCCCCCTCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGC	TCCTGGCCCCCACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCGGCCGGACGCTCTCGCCAGCTGCTCCCCACCCCACTCGGTGCCGTGTGATCCGATTCACTGCCACTGCCCCCAGCTCCCGCCGCCCGACGCTCCTTCTCACGGCCCGGGGCCCGGCGGCTGCTCCGGGTGGACCCACTGCTTTTGCTCCCTGGGAGTGAGAACAGGATGGGGAAGGAGCCTGTCAGCACCAGGCCCGGCCACGTCCAGAACAACCGCCCCCGCCAGGTGACCGGGCAGGAACGGTGGCCCGTGCAGGACGGGTGGGTGGGGCAGCCATGCAGGCGCGAGGACAGGGCCGGCACCCCCAGGGTCGCAGGGGCAGCTGCGGCAGGCATGGGCTGGTGGGGGCAGTGGGAGGCAGGCAGGGTCCTGGGGCAAGCTGGGCGCCCCCACACCTCACCCCGATGCTTGAGCTGAGGGCCTGGTCTTGCGGCTGAAAGACTGAGGTGCCAGCGAGGGCCCCTCATGCCCGGTGCCCCCGTGGCCATCCTGGATTCCCCACCCAAGGCCCCACTGTCCCCCCGGCCCAGGACCCTGGCCGACGGATGACTCAGCTCAGCCCTGTCCTGGGCTCCCAAGACGCAGTGGGAGCTGGAGGGCGTGGCTGGCTGGGGACATGCTGAGGGACCCCGGGCGGGACCCTGGCTTACCGGCCCAAGGTCCGCTCCGCTAGTCCTTCAGTCTAAGGCTTGTTTAGCACAAGACAAGGGATAGCACGAGTTACACGCCCGGCTGCCTGGCACCTGCCCAGCACCCACCCGCCACCAGTGGGGACTGACCGCGGGCTGGGCGGGGCTGAAGTGGGCGCAAGCGCCGGTCGAGGGTCAGTAGACACCCAGCGTGGCTTCTCTGCGGTCCCACACCCTCTGGCCGCCTCTCCTCTCTCGCCCTCCTTCCTGGGCCCTCCACGAAGCCACCTGCACCCCTCCCTGGCCTGCAGACGCCCCTGCTGGCCTCACCAACCCCACCCACTGGGGCCTCTGCTCCACCAGGCAACACCTCAGGAACACTCTGGATCCCCGGCCCCTAAACACACCCCAGCCAGGGGCACAAGGCTAGGATGCACGGCACCATCCACGTCAGGCTCCCTACCCGGGCTGCAGCTGCCACCCTCCTGTGTCCTGGGGCCTAGAAAGTGACCCTGTCAGACTCCTTGGCCACCCCTGCCCTGTCCTTGTCACATGGCCCATGGCCACATGGTCTCAGGGCCTCCTGCCTCTACCATAGGAGAACCACCAGCCGCCACCCCTACCAGGCACAGCCGCCCAGGCCGCCAGGCTCCTGGAGGCCCCTCATCCCAATCCCACCCAGATGAGGTGGGGTCCAGGCTGCCCCTGTGTGAGACGCTTCCCTGTCCTCCCCATTCACACTGGCTCCTGGATCCCCCTGGCACTTGCCTTTTCCAGAAGGAGCCCACCCAGGGCCCAAGTACACAGCAGGAGCATGGGATTGGGGTCAGCAGAGAAGCAGGGCGGAGCAGCAGCGGGGTGGGGTGGAGCTGGGGGTGGAGCAGCAGCGGGGTGGGGTGGAACTGGGGGCGGAGCAGCAGTGGAGTGGGGCGGAGCTGGGGGCGGAGCCGGGGAAGGGCAGGTAGGGGCGGCGTTCTCACCTTCACTCTGCTGACTCCCGGTGCTGCCGCTGCCATAGCTAAAGCCCGGGTCCTGGTAGGCAGGCGGGAAGCAGGGTGGGGGTCCCGGGTACTGGTAGGGGTAGCCCTGACCCAGAGGCCGGGGGCAGCCGGGTGGGGCAGCGGGGCCAGCGTGTCCTGATCCGAAGTCCCACTGGAGCCACTGTTGAGGTTCAGGGTGGCGAGATCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCACTGCTGCAGAGATCCCCGAAGACGTAGTAGCACTGCTCGGAGAAGGTGATCTTGTTGACCGTGTGCCGCAGGAAGCCGTGCTTCAGCAAGCTGCTGGCGTACTTCCGGGCCTCCCGCCGCTCCTTGAAGCCCTCCACGTGTGTGTACAGCCAGTCCACCACGTCCGCCCCTGGCCGGCACCAGCGGTCAGCCCGCAGCCTCGAGGCAAGCAGCCCTGCCCCTGGCACTATCCGCCCGCGGGGACGGCCACTCACCGATGACGGCATTGGCGATGGTGATCTTGAGCCACATGCGGTCGCGGATCTCCAGTCCCGAGTCTGGCAGCTGCATGACCCGGACGACGGCGCTCATGTCACTCTTCACCGTCAGCGGCGCCTCTTCCAGCTCTGCAAAGCACAGACAGCCCCGCTTCAGCCCCAGCATCTGAAGGCGGGGGACTCAGGGCCCTGCACCCCCAGGGGAGCCTCTGGGCAGAGCCTGCGCCAGGGCGCAAGCTGGACGGTGCGTGACAGCAGGGCCCCGGCCCACTGCAGGATGCACCCCCGTGAGGCTGGGGCGTGAGCAGGGGGGTTGGACATTTAGTCTCCCACTTCTACAGACACTTTTCATCAGGATCCTAGGCACAAACTGGGCTGACACCCCACCCTGCAGACCAGGAAGTAATGAGAACAGGGCAGGCCCCTTCCCCTCCCCGCATGCCCCACCCGAGAGCGCAGGCTGTTAGTCGTGTTAATGGCAGGAAGCAGAATGGAGACCTGGCCCCTGCCTCTGACGCCGTGGGTGCTCCCCGCATAGGGGCCCTACGTACATCCCCTGTTCCCAACACACAGACCATGAGCAGGATGGGCTGCACAAGGTGGGCACGGGTGCCTGTGCACACGTCTGTGCAGGGAGTTGGGGACAGGCAACACACACGTGTCACAGCCCCATGACGGCCACAGGCGGCCATGCTGGAGGCTGGCAGAGACGCCCCCTCCAAGCCTCGGTTTCTGCTGGGGCCCTCAGGAGCTGCCACTTACGTGGAGCACCAGGCACGGAGCTGGTTAGTGAGGAGGAGCTGGTGCGCGTGACGGCGCTGGAGCAGGGACTCGTACCGTAGCGGGGCAGGGCTCCTGTCAGTGCCGCCGTGTGGGACAGCCAGGCGGCGGGGTCGATGGGCCGCACCGGGTCAGCTGGGTGGCCGCCACGTGGCGATGACAGGCGGACAGATGGACAGGGTGGGAGGGCAGGGTGCAGGGCACAGAGGAGAGAGGCCTTCAGGCTAGGTAGGCGCCCCCTCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCN	pathogenic	327
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 1338107, gene DVL1 (dishevelled segment polarity protein 1): what disease(s) if pathogenic?	pathogenic; ['Autosomal_dominant_Robinow_syndrome_2']	ACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCGGCCGGACGCTCTCGCCAGCTGCTCCCCACCCCACTCGGTGCCGTGTGATCCGATTCACTGCCACTGCCCCCAGCTCCCGCCGCCCGACGCTCCTTCTCACGGCCCGGGGCCCGGCGGCTGCTCCGGGTGGACCCACTGCTTTTGCTCCCTGGGAGTGAGAACAGGATGGGGAAGGAGCCTGTCAGCACCAGGCCCGGCCACGTCCAGAACAACCGCCCCCGCCAGGTGACCGGGCAGGAACGGTGGCCCGTGCAGGACGGGTGGGTGGGGCAGCCATGCAGGCGCGAGGACAGGGCCGGCACCCCCAGGGTCGCAGGGGCAGCTGCGGCAGGCATGGGCTGGTGGGGGCAGTGGGAGGCAGGCAGGGTCCTGGGGCAAGCTGGGCGCCCCCACACCTCACCCCGATGCTTGAGCTGAGGGCCTGGTCTTGCGGCTGAAAGACTGAGGTGCCAGCGAGGGCCCCTCATGCCCGGTGCCCCCGTGGCCATCCTGGATTCCCCACCCAAGGCCCCACTGTCCCCCCGGCCCAGGACCCTGGCCGACGGATGACTCAGCTCAGCCCTGTCCTGGGCTCCCAAGACGCAGTGGGAGCTGGAGGGCGTGGCTGGCTGGGGACATGCTGAGGGACCCCGGGCGGGACCCTGGCTTACCGGCCCAAGGTCCGCTCCGCTAGTCCTTCAGTCTAAGGCTTGTTTAGCACAAGACAAGGGATAGCACGAGTTACACGCCCGGCTGCCTGGCACCTGCCCAGCACCCACCCGCCACCAGTGGGGACTGACCGCGGGCTGGGCGGGGCTGAAGTGGGCGCAAGCGCCGGTCGAGGGTCAGTAGACACCCAGCGTGGCTTCTCTGCGGTCCCACACCCTCTGGCCGCCTCTCCTCTCTCGCCCTCCTTCCTGGGCCCTCCACGAAGCCACCTGCACCCCTCCCTGGCCTGCAGACGCCCCTGCTGGCCTCACCAACCCCACCCACTGGGGCCTCTGCTCCACCAGGCAACACCTCAGGAACACTCTGGATCCCCGGCCCCTAAACACACCCCAGCCAGGGGCACAAGGCTAGGATGCACGGCACCATCCACGTCAGGCTCCCTACCCGGGCTGCAGCTGCCACCCTCCTGTGTCCTGGGGCCTAGAAAGTGACCCTGTCAGACTCCTTGGCCACCCCTGCCCTGTCCTTGTCACATGGCCCATGGCCACATGGTCTCAGGGCCTCCTGCCTCTACCATAGGAGAACCACCAGCCGCCACCCCTACCAGGCACAGCCGCCCAGGCCGCCAGGCTCCTGGAGGCCCCTCATCCCAATCCCACCCAGATGAGGTGGGGTCCAGGCTGCCCCTGTGTGAGACGCTTCCCTGTCCTCCCCATTCACACTGGCTCCTGGATCCCCCTGGCACTTGCCTTTTCCAGAAGGAGCCCACCCAGGGCCCAAGTACACAGCAGGAGCATGGGATTGGGGTCAGCAGAGAAGCAGGGCGGAGCAGCAGCGGGGTGGGGTGGAGCTGGGGGTGGAGCAGCAGCGGGGTGGGGTGGAACTGGGGGCGGAGCAGCAGTGGAGTGGGGCGGAGCTGGGGGCGGAGCCGGGGAAGGGCAGGTAGGGGCGGCGTTCTCACCTTCACTCTGCTGACTCCCGGTGCTGCCGCTGCCATAGCTAAAGCCCGGGTCCTGGTAGGCAGGCGGGAAGCAGGGTGGGGGTCCCGGGTACTGGTAGGGGTAGCCCTGACCCAGAGGCCAGGGGGCAGCCGGGTGGGGCAGCGGGGCCAGCGTGTCCTGATCCGAAGTCCCACTGGAGCCACTGTTGAGGTTCAGGGTGGCGAGATCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCACTGCTGCAGAGATCCCCGAAGACGTAGTAGCACTGCTCGGAGAAGGTGATCTTGTTGACCGTGTGCCGCAGGAAGCCGTGCTTCAGCAAGCTGCTGGCGTACTTCCGGGCCTCCCGCCGCTCCTTGAAGCCCTCCACGTGTGTGTACAGCCAGTCCACCACGTCCGCCCCTGGCCGGCACCAGCGGTCAGCCCGCAGCCTCGAGGCAAGCAGCCCTGCCCCTGGCACTATCCGCCCGCGGGGACGGCCACTCACCGATGACGGCATTGGCGATGGTGATCTTGAGCCACATGCGGTCGCGGATCTCCAGTCCCGAGTCTGGCAGCTGCATGACCCGGACGACGGCGCTCATGTCACTCTTCACCGTCAGCGGCGCCTCTTCCAGCTCTGCAAAGCACAGACAGCCCCGCTTCAGCCCCAGCATCTGAAGGCGGGGGACTCAGGGCCCTGCACCCCCAGGGGAGCCTCTGGGCAGAGCCTGCGCCAGGGCGCAAGCTGGACGGTGCGTGACAGCAGGGCCCCGGCCCACTGCAGGATGCACCCCCGTGAGGCTGGGGCGTGAGCAGGGGGGTTGGACATTTAGTCTCCCACTTCTACAGACACTTTTCATCAGGATCCTAGGCACAAACTGGGCTGACACCCCACCCTGCAGACCAGGAAGTAATGAGAACAGGGCAGGCCCCTTCCCCTCCCCGCATGCCCCACCCGAGAGCGCAGGCTGTTAGTCGTGTTAATGGCAGGAAGCAGAATGGAGACCTGGCCCCTGCCTCTGACGCCGTGGGTGCTCCCCGCATAGGGGCCCTACGTACATCCCCTGTTCCCAACACACAGACCATGAGCAGGATGGGCTGCACAAGGTGGGCACGGGTGCCTGTGCACACGTCTGTGCAGGGAGTTGGGGACAGGCAACACACACGTGTCACAGCCCCATGACGGCCACAGGCGGCCATGCTGGAGGCTGGCAGAGACGCCCCCTCCAAGCCTCGGTTTCTGCTGGGGCCCTCAGGAGCTGCCACTTACGTGGAGCACCAGGCACGGAGCTGGTTAGTGAGGAGGAGCTGGTGCGCGTGACGGCGCTGGAGCAGGGACTCGTACCGTAGCGGGGCAGGGCTCCTGTCAGTGCCGCCGTGTGGGACAGCCAGGCGGCGGGGTCGATGGGCCGCACCGGGTCAGCTGGGTGGCCGCCACGTGGCGATGACAGGCGGACAGATGGACAGGGTGGGAGGGCAGGGTGCAGGGCACAGAGGAGAGAGGCCTTCAGGCTAGGTAGGCGCCCCCTCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCT	ACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCGGCCGGACGCTCTCGCCAGCTGCTCCCCACCCCACTCGGTGCCGTGTGATCCGATTCACTGCCACTGCCCCCAGCTCCCGCCGCCCGACGCTCCTTCTCACGGCCCGGGGCCCGGCGGCTGCTCCGGGTGGACCCACTGCTTTTGCTCCCTGGGAGTGAGAACAGGATGGGGAAGGAGCCTGTCAGCACCAGGCCCGGCCACGTCCAGAACAACCGCCCCCGCCAGGTGACCGGGCAGGAACGGTGGCCCGTGCAGGACGGGTGGGTGGGGCAGCCATGCAGGCGCGAGGACAGGGCCGGCACCCCCAGGGTCGCAGGGGCAGCTGCGGCAGGCATGGGCTGGTGGGGGCAGTGGGAGGCAGGCAGGGTCCTGGGGCAAGCTGGGCGCCCCCACACCTCACCCCGATGCTTGAGCTGAGGGCCTGGTCTTGCGGCTGAAAGACTGAGGTGCCAGCGAGGGCCCCTCATGCCCGGTGCCCCCGTGGCCATCCTGGATTCCCCACCCAAGGCCCCACTGTCCCCCCGGCCCAGGACCCTGGCCGACGGATGACTCAGCTCAGCCCTGTCCTGGGCTCCCAAGACGCAGTGGGAGCTGGAGGGCGTGGCTGGCTGGGGACATGCTGAGGGACCCCGGGCGGGACCCTGGCTTACCGGCCCAAGGTCCGCTCCGCTAGTCCTTCAGTCTAAGGCTTGTTTAGCACAAGACAAGGGATAGCACGAGTTACACGCCCGGCTGCCTGGCACCTGCCCAGCACCCACCCGCCACCAGTGGGGACTGACCGCGGGCTGGGCGGGGCTGAAGTGGGCGCAAGCGCCGGTCGAGGGTCAGTAGACACCCAGCGTGGCTTCTCTGCGGTCCCACACCCTCTGGCCGCCTCTCCTCTCTCGCCCTCCTTCCTGGGCCCTCCACGAAGCCACCTGCACCCCTCCCTGGCCTGCAGACGCCCCTGCTGGCCTCACCAACCCCACCCACTGGGGCCTCTGCTCCACCAGGCAACACCTCAGGAACACTCTGGATCCCCGGCCCCTAAACACACCCCAGCCAGGGGCACAAGGCTAGGATGCACGGCACCATCCACGTCAGGCTCCCTACCCGGGCTGCAGCTGCCACCCTCCTGTGTCCTGGGGCCTAGAAAGTGACCCTGTCAGACTCCTTGGCCACCCCTGCCCTGTCCTTGTCACATGGCCCATGGCCACATGGTCTCAGGGCCTCCTGCCTCTACCATAGGAGAACCACCAGCCGCCACCCCTACCAGGCACAGCCGCCCAGGCCGCCAGGCTCCTGGAGGCCCCTCATCCCAATCCCACCCAGATGAGGTGGGGTCCAGGCTGCCCCTGTGTGAGACGCTTCCCTGTCCTCCCCATTCACACTGGCTCCTGGATCCCCCTGGCACTTGCCTTTTCCAGAAGGAGCCCACCCAGGGCCCAAGTACACAGCAGGAGCATGGGATTGGGGTCAGCAGAGAAGCAGGGCGGAGCAGCAGCGGGGTGGGGTGGAGCTGGGGGTGGAGCAGCAGCGGGGTGGGGTGGAACTGGGGGCGGAGCAGCAGTGGAGTGGGGCGGAGCTGGGGGCGGAGCCGGGGAAGGGCAGGTAGGGGCGGCGTTCTCACCTTCACTCTGCTGACTCCCGGTGCTGCCGCTGCCATAGCTAAAGCCCGGGTCCTGGTAGGCAGGCGGGAAGCAGGGTGGGGGTCCCGGGTACTGGTAGGGGTAGCCCTGACCCAGAGGCCAGGGGGCAGCCGGGCCAGCGTGTCCTGATCCGAAGTCCCACTGGAGCCACTGTTGAGGTTCAGGGTGGCGAGATCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCACTGCTGCAGAGATCCCCGAAGACGTAGTAGCACTGCTCGGAGAAGGTGATCTTGTTGACCGTGTGCCGCAGGAAGCCGTGCTTCAGCAAGCTGCTGGCGTACTTCCGGGCCTCCCGCCGCTCCTTGAAGCCCTCCACGTGTGTGTACAGCCAGTCCACCACGTCCGCCCCTGGCCGGCACCAGCGGTCAGCCCGCAGCCTCGAGGCAAGCAGCCCTGCCCCTGGCACTATCCGCCCGCGGGGACGGCCACTCACCGATGACGGCATTGGCGATGGTGATCTTGAGCCACATGCGGTCGCGGATCTCCAGTCCCGAGTCTGGCAGCTGCATGACCCGGACGACGGCGCTCATGTCACTCTTCACCGTCAGCGGCGCCTCTTCCAGCTCTGCAAAGCACAGACAGCCCCGCTTCAGCCCCAGCATCTGAAGGCGGGGGACTCAGGGCCCTGCACCCCCAGGGGAGCCTCTGGGCAGAGCCTGCGCCAGGGCGCAAGCTGGACGGTGCGTGACAGCAGGGCCCCGGCCCACTGCAGGATGCACCCCCGTGAGGCTGGGGCGTGAGCAGGGGGGTTGGACATTTAGTCTCCCACTTCTACAGACACTTTTCATCAGGATCCTAGGCACAAACTGGGCTGACACCCCACCCTGCAGACCAGGAAGTAATGAGAACAGGGCAGGCCCCTTCCCCTCCCCGCATGCCCCACCCGAGAGCGCAGGCTGTTAGTCGTGTTAATGGCAGGAAGCAGAATGGAGACCTGGCCCCTGCCTCTGACGCCGTGGGTGCTCCCCGCATAGGGGCCCTACGTACATCCCCTGTTCCCAACACACAGACCATGAGCAGGATGGGCTGCACAAGGTGGGCACGGGTGCCTGTGCACACGTCTGTGCAGGGAGTTGGGGACAGGCAACACACACGTGTCACAGCCCCATGACGGCCACAGGCGGCCATGCTGGAGGCTGGCAGAGACGCCCCCTCCAAGCCTCGGTTTCTGCTGGGGCCCTCAGGAGCTGCCACTTACGTGGAGCACCAGGCACGGAGCTGGTTAGTGAGGAGGAGCTGGTGCGCGTGACGGCGCTGGAGCAGGGACTCGTACCGTAGCGGGGCAGGGCTCCTGTCAGTGCCGCCGTGTGGGACAGCCAGGCGGCGGGGTCGATGGGCCGCACCGGGTCAGCTGGGTGGCCGCCACGTGGCGATGACAGGCGGACAGATGGACAGGGTGGGAGGGCAGGGTGCAGGGCACAGAGGAGAGAGGCCTTCAGGCTAGGTAGGCGCCCCCTCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCTNNNNNNNNNNNNN	pathogenic	328
Gene DVL1 (dishevelled segment polarity protein 1) variant at chromosome 1, position 1341593—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	benign	TCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCTGATGCCCAGAAAGTGATGTCTTTCTGCAGGAAGAGCCATGAGCCGCGGCCAAGCCCCTGCCCCTGCCCCCAACCCTCGCCCCGAGGCCTCACCCATGTTGAGCGTGACAGTGACGATGTTGAGGGACATGGTGGAGTCGGTTATGCTGCTGAAGGAGGAGGCCTATGGAGGAGAGGGGGCGTGTGTAAAAGGCACGGGGCTGCCCGACACTGACTTCGCCTCCCCAGCCCCGCCCTGCTCCACCCGGCTGCCTACCCGGTCCGCCTGCCGAAGGCGCTGCTTCCTCCGCCGGCGTTTGTGCTTCCGGATGAGTCTGGATGAGGTGCTCTGCTCCGTGGAGCTGCTGAGCCTGGGAACAGACTGTCAGAGCTCAGAGGAGCTGGAGACATGGGTAGGGGGGTGGGAACCCGCTCCCCCAATACTGAGTGGGAATCGGGGGTCTAGGCCAGGCTTGTTCCAAAGCAGGCTCAGTGCCTGACGTCCACGCCCCAGGCCCTGCACACGTGATATGCATATGAGCACACACGAAAATCCCAGAGACAGGCAAACTGGGCACAGACACATGTAGCCAGATCCACTACTGACACACCTGCACACATGCACACCTGCACACACATGCACACCTGCACACACGCACCCCTGCACAAGGCACACATGCACACACCTGCACACACACCTGCACACACGCAACCCTGCACACATGCACCCCTGCGCACAGGCACACATGCACACCCCTGCACACGCACGCATGAACACACGCACACCTGCACACGCATGCACACCTGCACACACGCACCCCTGCACACTACACACCTGCACAGGCACACATGCACACCTGCATACTCACCTGCACACGCACCCCTGCACAATGCACCCCTGCACACACGCACCCCTGCACACACATGCACACCTGCACACACGCACCCCTGCACACAGGCACACCTGCACACACCTGCACACGCACGCCTGCACATGCACACCTGCACGCACACCTTCACATACACCTGTACAAGCACACCTGCACACACGCACATCTGCACACGCACACCTGCACACACGCACACGCACACATGCACACACCTGCGCACACGCGTGCATTGTGAAAACGCTCACGTGCACACTGTGAAAACGCACCTCACACACACATACATGCACACACAGACATGCGCATCATGTACATAAACGTTTGCACACAGGTACATGCACAGACACATCCGCAATGTGAAAACGCCTCACACAGACACACATGCACAAGCAGACACGTGCATCATGTACACGTTTGCACGCGGGCACACACACAGGCGCGCACACACGTGCACAGTGAAAACACCTCATGTGGAACACGTGCACAAGCACACGTGCATCATGTACACAGACATTTGCAGGCACACACATGCACACACACGCACACACGTGCAATGTGAAAACACCTCATGCAGACACATGCACATCATGTACAGACATTTGCAAGTGGGCACACAGGCATACACGCCCACAGACACTCCCACACACCTGCTCGTGCTGCCATCCTCGTCCGAGTCCACAAAGCTGCTGGACTCAAGCTCGCTGCTGAGGGCGGTGGACGCGCTGTCTGGGGGCAGCCCCACATCCCGCCGTCGGTCTCCCCTTGGGTGCCCATTGGTCCGGGCGGCTGTGGGGGCAGCAGGTTGGGAACTGACTGCAGGGTCTCCCAGAGGTCATGGGTTTGGGGCTGCCTGGGCAGTGCTGCATGCCTGTGGGTCTGGGAGCTGGCAGCTCAACTGTAGGCTCGCTGGGCCTGTGCCTCCACCCAAGCACCGCCACTGGCTGGGGGACAGGAACTGCTGTAGTAGGAACATGGCTCATGGGGGTCCCAGGGAGGCTGGGGGTCCACAGCTGGGCAGACATGACCACTGTACCCTCCTCGCGGTTCCGGCGTCGGGCACGCTCCCGCCGGTGACTGACCATGGACTCCGTGCCTGTCTCGTTGTCCATCCCGTCACGGCTGCTGGCCACATTTGGGCTGTGCAACAAGAGCAGGGTGGGTGGGGAGGCCGTGGCCCCAGCCCCTCAGATGCCGCCCAGCCCAGCCTCCCCTCGCCTGTGGGACCCCAGCCCCAGCAGGTGCCACGCCCGCCTACTGGCCCAGGCAGGCCTCCCTCCCCTGTTGGCCAGCAACCCCCATGACAGGCTTGGGGTAGCAGGGCCCAGCGCCCACGGTGTCCTTACTGGAAGGAGGGGGGCCGGGAGTCCCCGATGCCGCCTGTCCGCTCAAGAGGCGGGGGCAGGTCTGTGTGGCTGTCCGTGCCCTGGGACCCCGCATCCGAGTGAGCACCCTCAGCCAGGACCAGCTGTGGAGGGAGCAGGCATGCTCAGGGGAGCCCACCCGCCTTCAGGACGCCTCCTCAGGGCACCCAGGGAACAGGGGGCCAGCAAGCTGCCCTATCCGCACCCAGCCTGCCAGGGCCTCCCCACACCCACCGCCTCCCCCAGGAAGAGCCCCACCCTGGAATGCTCCCCAGGCGAGCCTTCGGGGCCAAGACACAGGGGCTCACCCAGGAGACCACGCGGCCGTTGAAGCAGGGAAGCTTGGCATTGTCATCAAAGATCTCCTCCTTCACCACCCTGTGGGCATATGCTGCCGTGAGGCCCCACCTGGGGGGCCCAACCCTGCGGTTCTAGAGGTGAGGCCTGGAGAGCAGGCGCTCCTCCTGCCCACACAATGTCACTCTGTGGACACCCCTGCTAGCGCATTCTCCTCTTGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGCCAGTCACTCTGCGGACACCCCTGCTAACGCACTCTCCTCTCGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGACAGTGGCTGTGGACATCCTCACAGGGGCAGCTCAGCCAAAGGCTCTCAGTCCCCTGCAGCGTTGGTCCCCAGCCCCCAGGTAGGAGGACAGCTAGGGTGAGGCCTCCTTGGGAAAGCCCCCGTGCCCAGCTGCCCTCGGTTCATGTATGTGGTGGCCCCAGACGCTGTCTCCAACCACCCCCACCTCATCTGTTCCTGGGGCTTGGAGCCCCCCCCCCCCAGGGCTTCCCCCACACTGGGACTCCTCAGGGCCAGGCCCCAGCCTCCTCAGCAGCAGCAGCTGCACCTACCGGGCCCCAAGGCTCCCCAGGCTATTCCCTGTCCCTTGCCCCAGACCTCAGGTCCACCGCTCCACCTCCCAGCCAGCTCCAGACCAGCCGCCCACCCCTCAACAGCCAGGGCATCAGGCCACCTGCACCCACCCCTGCACTCAGACCTGTCATTCCCAACCAGGAGCCCAAATCCCCCAGCAGCCTCCTCTCCATCATGCCAGCCATGCCCTATGGCCCTACTCCACCCTCCTGGCGTCTCAGGAGCAGCCTCAGGTCCCAGGCCCTGTGCCTGCCTGCCCAGGGTCAGGCTCTGTGAGGG	TCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCTGATGCCCAGAAAGTGATGTCTTTCTGCAGGAAGAGCCATGAGCCGCGGCCAAGCCCCTGCCCCTGCCCCCAACCCTCGCCCCGAGGCCTCACCCATGTTGAGCGTGACAGTGACGATGTTGAGGGACATGGTGGAGTCGGTTATGCTGCTGAAGGAGGAGGCCTATGGAGGAGAGGGGGCGTGTGTAAAAGGCACGGGGCTGCCCGACACTGACTTCGCCTCCCCAGCCCCGCCCTGCTCCACCCGGCTGCCTACCCGGTCCGCCTGCCGAAGGCGCTGCTTCCTCCGCCGGCGTTTGTGCTTCCGGATGAGTCTGGATGAGGTGCTCTGCTCCGTGGAGCTGCTGAGCCTGGGAACAGACTGTCAGAGCTCAGAGGAGCTGGAGACATGGGTAGGGGGGTGGGAACCCGCTCCCCCAATACTGAGTGGGAATCGGGGGTCTAGGCCAGGCTTGTTCCAAAGCAGGCTCAGTGCCTGACGTCCACGCCCCAGGCCCTGCACACGTGATATGCATATGAGCACACACGAAAATCCCAGAGACAGGCAAACTGGGCACAGACACATGTAGCCAGATCCACTACTGACACACCTGCACACATGCACACCTGCACACACATGCACACCTGCACACACGCACCCCTGCACAAGGCACACATGCACACACCTGCACACACACCTGCACACACGCAACCCTGCACACATGCACCCCTGCGCACAGGCACACATGCACACCCCTGCACACGCACGCATGAACACACGCACACCTGCACACGCATGCACACCTGCACACACGCACCCCTGCACACTACACACCTGCACAGGCACACATGCACACCTGCATACTCACCTGCACACGCACCCCTGCACAATGCACCCCTGCACACACGCACCCCTGCACACACATGCACACCTGCACACACGCACCCCTGCACACAGGCACACCTGCACACACCTGCACACGCACGCCTGCACATGCACACCTGCACGCACACCTTCACATACACCTGTACAAGCACACCTGCACACACGCACATCTGCACACGCACACCTGCACACACGCACACGCACACATGCACACACCTGCGCACACGCGTGCATTGTGAAAACGCTCACGTGCACACTGTGAAAACGCACCTCACACACACATACATGCACACACAGACATGCGCATCATGTACATAAACGTTTGCACACAGGTACATGCACAGACACATCCGCAATGTGAAAACGCCTCACACAGACACACATGCACAAGCAGACACGTGCATCATGTACACGTTTGCACGCGGGCACACACACAGGCGCGCACACACGTGCACAGTGAAAACACCTCATGTGGAACACGTGCACAAGCACACGTGCATCATGTACACAGACATTTGCAGGCACACACATGCACACACACGCACACACGTGCAATGTGAAAACACCTCATGCAGACACACACATGCACATCATGTACAGACATTTGCAAGTGGGCACACAGGCATACACGCCCACAGACACTCCCACACACCTGCTCGTGCTGCCATCCTCGTCCGAGTCCACAAAGCTGCTGGACTCAAGCTCGCTGCTGAGGGCGGTGGACGCGCTGTCTGGGGGCAGCCCCACATCCCGCCGTCGGTCTCCCCTTGGGTGCCCATTGGTCCGGGCGGCTGTGGGGGCAGCAGGTTGGGAACTGACTGCAGGGTCTCCCAGAGGTCATGGGTTTGGGGCTGCCTGGGCAGTGCTGCATGCCTGTGGGTCTGGGAGCTGGCAGCTCAACTGTAGGCTCGCTGGGCCTGTGCCTCCACCCAAGCACCGCCACTGGCTGGGGGACAGGAACTGCTGTAGTAGGAACATGGCTCATGGGGGTCCCAGGGAGGCTGGGGGTCCACAGCTGGGCAGACATGACCACTGTACCCTCCTCGCGGTTCCGGCGTCGGGCACGCTCCCGCCGGTGACTGACCATGGACTCCGTGCCTGTCTCGTTGTCCATCCCGTCACGGCTGCTGGCCACATTTGGGCTGTGCAACAAGAGCAGGGTGGGTGGGGAGGCCGTGGCCCCAGCCCCTCAGATGCCGCCCAGCCCAGCCTCCCCTCGCCTGTGGGACCCCAGCCCCAGCAGGTGCCACGCCCGCCTACTGGCCCAGGCAGGCCTCCCTCCCCTGTTGGCCAGCAACCCCCATGACAGGCTTGGGGTAGCAGGGCCCAGCGCCCACGGTGTCCTTACTGGAAGGAGGGGGGCCGGGAGTCCCCGATGCCGCCTGTCCGCTCAAGAGGCGGGGGCAGGTCTGTGTGGCTGTCCGTGCCCTGGGACCCCGCATCCGAGTGAGCACCCTCAGCCAGGACCAGCTGTGGAGGGAGCAGGCATGCTCAGGGGAGCCCACCCGCCTTCAGGACGCCTCCTCAGGGCACCCAGGGAACAGGGGGCCAGCAAGCTGCCCTATCCGCACCCAGCCTGCCAGGGCCTCCCCACACCCACCGCCTCCCCCAGGAAGAGCCCCACCCTGGAATGCTCCCCAGGCGAGCCTTCGGGGCCAAGACACAGGGGCTCACCCAGGAGACCACGCGGCCGTTGAAGCAGGGAAGCTTGGCATTGTCATCAAAGATCTCCTCCTTCACCACCCTGTGGGCATATGCTGCCGTGAGGCCCCACCTGGGGGGCCCAACCCTGCGGTTCTAGAGGTGAGGCCTGGAGAGCAGGCGCTCCTCCTGCCCACACAATGTCACTCTGTGGACACCCCTGCTAGCGCATTCTCCTCTTGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGCCAGTCACTCTGCGGACACCCCTGCTAACGCACTCTCCTCTCGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGACAGTGGCTGTGGACATCCTCACAGGGGCAGCTCAGCCAAAGGCTCTCAGTCCCCTGCAGCGTTGGTCCCCAGCCCCCAGGTAGGAGGACAGCTAGGGTGAGGCCTCCTTGGGAAAGCCCCCGTGCCCAGCTGCCCTCGGTTCATGTATGTGGTGGCCCCAGACGCTGTCTCCAACCACCCCCACCTCATCTGTTCCTGGGGCTTGGAGCCCCCCCCCCCCAGGGCTTCCCCCACACTGGGACTCCTCAGGGCCAGGCCCCAGCCTCCTCAGCAGCAGCAGCTGCACCTACCGGGCCCCAAGGCTCCCCAGGCTATTCCCTGTCCCTTGCCCCAGACCTCAGGTCCACCGCTCCACCTCCCAGCCAGCTCCAGACCAGCCGCCCACCCCTCAACAGCCAGGGCATCAGGCCACCTGCACCCACCCCTGCACTCAGACCTGTCATTCCCAACCAGGAGCCCAAATCCCCCAGCAGCCTCCTCTCCATCATGCCAGCCATGCCCTATGGCCCTACTCCACCCTCCTGGCGTCTCAGGAGCAGCCTCAGGTCCCAGGCCCTGTGCCTGCCTGCCCAGGGTCAGGCTCTGTG	benign	354
Is the chromosome 1, position 1341659 variant in DVL1 (dishevelled segment polarity protein 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?	benign	GTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCTGATGCCCAGAAAGTGATGTCTTTCTGCAGGAAGAGCCATGAGCCGCGGCCAAGCCCCTGCCCCTGCCCCCAACCCTCGCCCCGAGGCCTCACCCATGTTGAGCGTGACAGTGACGATGTTGAGGGACATGGTGGAGTCGGTTATGCTGCTGAAGGAGGAGGCCTATGGAGGAGAGGGGGCGTGTGTAAAAGGCACGGGGCTGCCCGACACTGACTTCGCCTCCCCAGCCCCGCCCTGCTCCACCCGGCTGCCTACCCGGTCCGCCTGCCGAAGGCGCTGCTTCCTCCGCCGGCGTTTGTGCTTCCGGATGAGTCTGGATGAGGTGCTCTGCTCCGTGGAGCTGCTGAGCCTGGGAACAGACTGTCAGAGCTCAGAGGAGCTGGAGACATGGGTAGGGGGGTGGGAACCCGCTCCCCCAATACTGAGTGGGAATCGGGGGTCTAGGCCAGGCTTGTTCCAAAGCAGGCTCAGTGCCTGACGTCCACGCCCCAGGCCCTGCACACGTGATATGCATATGAGCACACACGAAAATCCCAGAGACAGGCAAACTGGGCACAGACACATGTAGCCAGATCCACTACTGACACACCTGCACACATGCACACCTGCACACACATGCACACCTGCACACACGCACCCCTGCACAAGGCACACATGCACACACCTGCACACACACCTGCACACACGCAACCCTGCACACATGCACCCCTGCGCACAGGCACACATGCACACCCCTGCACACGCACGCATGAACACACGCACACCTGCACACGCATGCACACCTGCACACACGCACCCCTGCACACTACACACCTGCACAGGCACACATGCACACCTGCATACTCACCTGCACACGCACCCCTGCACAATGCACCCCTGCACACACGCACCCCTGCACACACATGCACACCTGCACACACGCACCCCTGCACACAGGCACACCTGCACACACCTGCACACGCACGCCTGCACATGCACACCTGCACGCACACCTTCACATACACCTGTACAAGCACACCTGCACACACGCACATCTGCACACGCACACCTGCACACACGCACACGCACACATGCACACACCTGCGCACACGCGTGCATTGTGAAAACGCTCACGTGCACACTGTGAAAACGCACCTCACACACACATACATGCACACACAGACATGCGCATCATGTACATAAACGTTTGCACACAGGTACATGCACAGACACATCCGCAATGTGAAAACGCCTCACACAGACACACATGCACAAGCAGACACGTGCATCATGTACACGTTTGCACGCGGGCACACACACAGGCGCGCACACACGTGCACAGTGAAAACACCTCATGTGGAACACGTGCACAAGCACACGTGCATCATGTACACAGACATTTGCAGGCACACACATGCACACACACGCACACACGTGCAATGTGAAAACACCTCATGCAGACACATGCACATCATGTACAGACATTTGCAAGTGGGCACACAGGCATACACGCCCACAGACACTCCCACACACCTGCTCGTGCTGCCATCCTCGTCCGAGTCCACAAAGCTGCTGGACTCAAGCTCGCTGCTGAGGGCGGTGGACGCGCTGTCTGGGGGCAGCCCCACATCCCGCCGTCGGTCTCCCCTTGGGTGCCCATTGGTCCGGGCGGCTGTGGGGGCAGCAGGTTGGGAACTGACTGCAGGGTCTCCCAGAGGTCATGGGTTTGGGGCTGCCTGGGCAGTGCTGCATGCCTGTGGGTCTGGGAGCTGGCAGCTCAACTGTAGGCTCGCTGGGCCTGTGCCTCCACCCAAGCACCGCCACTGGCTGGGGGACAGGAACTGCTGTAGTAGGAACATGGCTCATGGGGGTCCCAGGGAGGCTGGGGGTCCACAGCTGGGCAGACATGACCACTGTACCCTCCTCGCGGTTCCGGCGTCGGGCACGCTCCCGCCGGTGACTGACCATGGACTCCGTGCCTGTCTCGTTGTCCATCCCGTCACGGCTGCTGGCCACATTTGGGCTGTGCAACAAGAGCAGGGTGGGTGGGGAGGCCGTGGCCCCAGCCCCTCAGATGCCGCCCAGCCCAGCCTCCCCTCGCCTGTGGGACCCCAGCCCCAGCAGGTGCCACGCCCGCCTACTGGCCCAGGCAGGCCTCCCTCCCCTGTTGGCCAGCAACCCCCATGACAGGCTTGGGGTAGCAGGGCCCAGCGCCCACGGTGTCCTTACTGGAAGGAGGGGGGCCGGGAGTCCCCGATGCCGCCTGTCCGCTCAAGAGGCGGGGGCAGGTCTGTGTGGCTGTCCGTGCCCTGGGACCCCGCATCCGAGTGAGCACCCTCAGCCAGGACCAGCTGTGGAGGGAGCAGGCATGCTCAGGGGAGCCCACCCGCCTTCAGGACGCCTCCTCAGGGCACCCAGGGAACAGGGGGCCAGCAAGCTGCCCTATCCGCACCCAGCCTGCCAGGGCCTCCCCACACCCACCGCCTCCCCCAGGAAGAGCCCCACCCTGGAATGCTCCCCAGGCGAGCCTTCGGGGCCAAGACACAGGGGCTCACCCAGGAGACCACGCGGCCGTTGAAGCAGGGAAGCTTGGCATTGTCATCAAAGATCTCCTCCTTCACCACCCTGTGGGCATATGCTGCCGTGAGGCCCCACCTGGGGGGCCCAACCCTGCGGTTCTAGAGGTGAGGCCTGGAGAGCAGGCGCTCCTCCTGCCCACACAATGTCACTCTGTGGACACCCCTGCTAGCGCATTCTCCTCTTGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGCCAGTCACTCTGCGGACACCCCTGCTAACGCACTCTCCTCTCGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGACAGTGGCTGTGGACATCCTCACAGGGGCAGCTCAGCCAAAGGCTCTCAGTCCCCTGCAGCGTTGGTCCCCAGCCCCCAGGTAGGAGGACAGCTAGGGTGAGGCCTCCTTGGGAAAGCCCCCGTGCCCAGCTGCCCTCGGTTCATGTATGTGGTGGCCCCAGACGCTGTCTCCAACCACCCCCACCTCATCTGTTCCTGGGGCTTGGAGCCCCCCCCCCCCAGGGCTTCCCCCACACTGGGACTCCTCAGGGCCAGGCCCCAGCCTCCTCAGCAGCAGCAGCTGCACCTACCGGGCCCCAAGGCTCCCCAGGCTATTCCCTGTCCCTTGCCCCAGACCTCAGGTCCACCGCTCCACCTCCCAGCCAGCTCCAGACCAGCCGCCCACCCCTCAACAGCCAGGGCATCAGGCCACCTGCACCCACCCCTGCACTCAGACCTGTCATTCCCAACCAGGAGCCCAAATCCCCCAGCAGCCTCCTCTCCATCATGCCAGCCATGCCCTATGGCCCTACTCCACCCTCCTGGCGTCTCAGGAGCAGCCTCAGGTCCCAGGCCCTGTGCCTGCCTGCCCAGGGTCAGGCTCTGTGAGGGCAGGGCTTTGCCTGACCCCTGCCCTGCACCCCTAGTCAGGCTCACAGTCCACCTACAAGGACTCTC	GTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCTGATGCCCAGAAAGTGATGTCTTTCTGCAGGAAGAGCCATGAGCCGCGGCCAAGCCCCTGCCCCTGCCCCCAACCCTCGCCCCGAGGCCTCACCCATGTTGAGCGTGACAGTGACGATGTTGAGGGACATGGTGGAGTCGGTTATGCTGCTGAAGGAGGAGGCCTATGGAGGAGAGGGGGCGTGTGTAAAAGGCACGGGGCTGCCCGACACTGACTTCGCCTCCCCAGCCCCGCCCTGCTCCACCCGGCTGCCTACCCGGTCCGCCTGCCGAAGGCGCTGCTTCCTCCGCCGGCGTTTGTGCTTCCGGATGAGTCTGGATGAGGTGCTCTGCTCCGTGGAGCTGCTGAGCCTGGGAACAGACTGTCAGAGCTCAGAGGAGCTGGAGACATGGGTAGGGGGGTGGGAACCCGCTCCCCCAATACTGAGTGGGAATCGGGGGTCTAGGCCAGGCTTGTTCCAAAGCAGGCTCAGTGCCTGACGTCCACGCCCCAGGCCCTGCACACGTGATATGCATATGAGCACACACGAAAATCCCAGAGACAGGCAAACTGGGCACAGACACATGTAGCCAGATCCACTACTGACACACCTGCACACATGCACACCTGCACACACATGCACACCTGCACACACGCACCCCTGCACAAGGCACACATGCACACACCTGCACACACACCTGCACACACGCAACCCTGCACACATGCACCCCTGCGCACAGGCACACATGCACACCCCTGCACACGCACGCATGAACACACGCACACCTGCACACGCATGCACACCTGCACACACGCACCCCTGCACACTACACACCTGCACAGGCACACATGCACACCTGCATACTCACCTGCACACGCACCCCTGCACAATGCACCCCTGCACACACGCACCCCTGCACACACATGCACACCTGCACACACGCACCCCTGCACACAGGCACACCTGCACACACCTGCACACGCACGCCTGCACATGCACACCTGCACGCACACCTTCACATACACCTGTACAAGCACACCTGCACACACGCACATCTGCACACGCACACCTGCACACACGCACACGCACACATGCACACACCTGCGCACACGCGTGCATTGTGAAAACGCTCACGTGCACACTGTGAAAACGCACCTCACACACACATACATGCACACACAGACATGCGCATCATGTACATAAACGTTTGCACACAGGTACATGCACAGACACATCCGCAATGTGAAAACGCCTCACACAGACACACATGCACAAGCAGACACGTGCATCATGTACACGTTTGCACGCGGGCACACACACAGGCGCGCACACACGTGCACAGTGAAAACACCTCATGTGGAACACGTGCACAAGCACACGTGCATCATGTACACAGACATTTGCAGGCACACACATGCACACACACGCACACACGTGCAATGTGAAAACACCTCATGCAGACACATGCACATCATGTACAGACATTTGCAAGTGGGCACACAGGCATACACGCCCACAGACACTCCCACACCTGCTCGTGCTGCCATCCTCGTCCGAGTCCACAAAGCTGCTGGACTCAAGCTCGCTGCTGAGGGCGGTGGACGCGCTGTCTGGGGGCAGCCCCACATCCCGCCGTCGGTCTCCCCTTGGGTGCCCATTGGTCCGGGCGGCTGTGGGGGCAGCAGGTTGGGAACTGACTGCAGGGTCTCCCAGAGGTCATGGGTTTGGGGCTGCCTGGGCAGTGCTGCATGCCTGTGGGTCTGGGAGCTGGCAGCTCAACTGTAGGCTCGCTGGGCCTGTGCCTCCACCCAAGCACCGCCACTGGCTGGGGGACAGGAACTGCTGTAGTAGGAACATGGCTCATGGGGGTCCCAGGGAGGCTGGGGGTCCACAGCTGGGCAGACATGACCACTGTACCCTCCTCGCGGTTCCGGCGTCGGGCACGCTCCCGCCGGTGACTGACCATGGACTCCGTGCCTGTCTCGTTGTCCATCCCGTCACGGCTGCTGGCCACATTTGGGCTGTGCAACAAGAGCAGGGTGGGTGGGGAGGCCGTGGCCCCAGCCCCTCAGATGCCGCCCAGCCCAGCCTCCCCTCGCCTGTGGGACCCCAGCCCCAGCAGGTGCCACGCCCGCCTACTGGCCCAGGCAGGCCTCCCTCCCCTGTTGGCCAGCAACCCCCATGACAGGCTTGGGGTAGCAGGGCCCAGCGCCCACGGTGTCCTTACTGGAAGGAGGGGGGCCGGGAGTCCCCGATGCCGCCTGTCCGCTCAAGAGGCGGGGGCAGGTCTGTGTGGCTGTCCGTGCCCTGGGACCCCGCATCCGAGTGAGCACCCTCAGCCAGGACCAGCTGTGGAGGGAGCAGGCATGCTCAGGGGAGCCCACCCGCCTTCAGGACGCCTCCTCAGGGCACCCAGGGAACAGGGGGCCAGCAAGCTGCCCTATCCGCACCCAGCCTGCCAGGGCCTCCCCACACCCACCGCCTCCCCCAGGAAGAGCCCCACCCTGGAATGCTCCCCAGGCGAGCCTTCGGGGCCAAGACACAGGGGCTCACCCAGGAGACCACGCGGCCGTTGAAGCAGGGAAGCTTGGCATTGTCATCAAAGATCTCCTCCTTCACCACCCTGTGGGCATATGCTGCCGTGAGGCCCCACCTGGGGGGCCCAACCCTGCGGTTCTAGAGGTGAGGCCTGGAGAGCAGGCGCTCCTCCTGCCCACACAATGTCACTCTGTGGACACCCCTGCTAGCGCATTCTCCTCTTGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGCCAGTCACTCTGCGGACACCCCTGCTAACGCACTCTCCTCTCGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGACAGTGGCTGTGGACATCCTCACAGGGGCAGCTCAGCCAAAGGCTCTCAGTCCCCTGCAGCGTTGGTCCCCAGCCCCCAGGTAGGAGGACAGCTAGGGTGAGGCCTCCTTGGGAAAGCCCCCGTGCCCAGCTGCCCTCGGTTCATGTATGTGGTGGCCCCAGACGCTGTCTCCAACCACCCCCACCTCATCTGTTCCTGGGGCTTGGAGCCCCCCCCCCCCAGGGCTTCCCCCACACTGGGACTCCTCAGGGCCAGGCCCCAGCCTCCTCAGCAGCAGCAGCTGCACCTACCGGGCCCCAAGGCTCCCCAGGCTATTCCCTGTCCCTTGCCCCAGACCTCAGGTCCACCGCTCCACCTCCCAGCCAGCTCCAGACCAGCCGCCCACCCCTCAACAGCCAGGGCATCAGGCCACCTGCACCCACCCCTGCACTCAGACCTGTCATTCCCAACCAGGAGCCCAAATCCCCCAGCAGCCTCCTCTCCATCATGCCAGCCATGCCCTATGGCCCTACTCCACCCTCCTGGCGTCTCAGGAGCAGCCTCAGGTCCCAGGCCCTGTGCCTGCCTGCCCAGGGTCAGGCTCTGTGAGGGCAGGGCTTTGCCTGACCCCTGCCCTGCACCCCTAGTCAGGCTCACAGTCCACCTACAAGGACTCTCNN	benign	355
Clinical classification of chromosome 1, position 1435798, gene VWA1 (von Willebrand factor A domain containing 1): benign or pathogenic? Disease(s) if pathogenic?	pathogenic; ['Neuromuscular_disease', 'Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7', 'VWA1-related_disorder']	CCACGTCCCTCCTCCGGGGTGGAGACAGCGGGGGGAGGGCAGGACACAAGAATGAGTCCTGAAGACTGAGGGGCACGGGGAGAGCTGATGGGGAGGGTCTCCTAGCTGGAGGGACTCCAGGCAGAGCCGGGAGCAAGGCAGGTGGCTGAGCTCGGCCCAGGCTGGGTGGAGGCCAGGCCTCCTGTGCCTTCTCCCGCTGATGGCGAGCTGAAGGGAGGAGGGCGGCCGCTTCCTTGAGGGCCTGAGTCACAGCCAAGAAGACCCGCTCACTTTTTCCAGAAGTGAGGGAAACTTCCCCGTCAGCCCTGCAAGGCTGGCTGAGGTGTGACTGTGGCCCGCCTGCTGGGCGAGGGTGGGGGACAAGCGGGCCACTGGCTGTGAGCCTCCCCAGGGTGGGGGACCCTCGGCCCAGCTCCCTGCCTGACTACCTGGACGTGCCTCCGCAGGGTCTGCAGCCAGCTTCCGGTCAGACCCCAGGTCCTCCAGCGGCTGCGGCCTTCAGCGTCATCTCCACGGCAGCCCCTGTGTACTGGGGGCTGGGGGGCCTGGCGAGGCCCCTCGAAGTGGTACAGCTTGCACTCTGGGGACCCAAAGTCCCCCCACCGGGCCCAGGCGGAAGCACCAGGCATTTCTGGTCCCAGCCGAGGTCTGAGGTCTGTGGAGCGCAGCCAGCACCTCCACTGCCAAGATCCCCGGCAGGGGGGGTGGGGGGCGCCGGCGGGGACACAGCTCTCCCTTGTTCCTGCCGCCAGCTCCTCAGCCTCAGCCTGCTGCTTCCTTTTTTAGGCAAAGTCGAGTGCTGGCCGTCCGCACGGCCCCGCGGTGTCTCACCTGCCTGAAAGGGAGGAAGGAAGCCTGTGGAGCCCCATCCGTTCTCCCGCGGCGCATCCTCCAGGAGAGGGTGGGGAAGGAGGAGACATCCTGGCAGACACCCCCCCACGTCCCCCACCTCCCAGCTCTGAGCTGAGGAGGCCCTGGAAGAGGGCCATGGCTACTCCGAGGGAGGGCCGGGGTAGGGTTCTCCTGTCCAGGGGACACTGCTGGCCCAGCCCCACCCAAGCAGGGGAAATCTGCCCTGGGAGCCACTGTCCCTCAGGACGCCCCCTGCAACCAGCCACCTCTCGTCTGGGCCTCACCAAGACCCCAAGACTCAAGAGCTCCTGTCTCACCAGTGGGACCCTCCAGTCCTGCTGGGGGTGTGTCCTGGGTCCTGGAGTCTGGGCCCCTCACTGGGTAGGGTATATGGGTAACAGGCCCAGTGTGGTCCCACTGGACAGGGCCTCAACCAACCATCTCCCACTCCCATGCCTCTTCCTCCAAGAAGCCCAGGTGGCGTGGGTGCTTCGAGTCTCTCTCGAATTCCTGTCTTCTGTCCCCTTTCAAGCCACTGTGTCCTTGTAAGTTCCACCCCATGGTCCTTCCCATCCCTGCTGGTCAGTCCCTGGGATACATGTCCTGTTACTCCAGACACCTATCCGCCTCCAGCGCGGAGGCCAAGGCGAAACCACGGTCTGGACGTGTTTTTTTGGTGCCACCGCCAGCCCCTGGGGTTCTCTTGGGCCTGGCTGCTGGGACCCCAGCACCCAGAGTCACGGCAGTGGTGGGCATGGGGAGGGCCTAGCCTGGTACCTCCCTGCTCGGCTCCCGCGGCTGGGGGTCGGAGAGGGGTGGAGAGCGTGGGCCGCACAGCCTCGGCCGGGAGAGGGAGACTGGAGTGTGTGTGTGTGCGTGCCTGCGCGTGCGTGCCTCGGTCGTATCTCGGCTGGTGCTGCGTGTCCCTGCGTGTCGGGGTCCGCTCGTGCGCGCCTCTCCGGGGTCTGTGCGCGTGGCCCTCCGCTCGCGCCGGAGGGCGTGGGCGTGGCCTCGGCGTGGGTGTGGCCGCTCGGGGAGGGGCCTCCCGGGGGCGGGGCCGGCCTGGTCCGCGCGGTGACGCGCCCTGCAGCCCCGAGCGAGCGAGCGAGCGAGCGAGTTGCCGAGCGCGCCCCGTCCCTCGCGCGCGATGCTCCCCTGGACGGCGCTCGGCCTGGCCCTGAGCTTGCGGCTGGCGCTGGCGCGGAGCGGCGCGGAGCGCGGTGAGTGCGGCGGGCGGCCGGGCCGGGGCTGGGGCTTCTGGTGACCGCTCTGCGCCGCTGCCCGCGCAAGGCCGTCGCTGTCCCCTGCTCCGGACGGGCGGGCGGGCTGGGAGGCTGCGGGAGCCGGGCGGGGGCGCGGGCGGAGCGTCCTGCTCACCTGAGGCTGGCGGCCCAGGTGCTCCAGGCGACACCGTCCGTGAGCGCCGGGGCATAGGGGCCGTCCCGGCCCGCATCTCTGCGGGATCGCGGGCCTGGACAGGAAGAGGGAGATGTCTGTCAAGGGGGCACCCCTGCCTCAGTTTCCCTACCCTTGCGAGGGCCCTTAGTGGAGGGATGGTAGGGAAGTTGGAGTCGCCCCACCGCACTGGGGAAAACCGCAAGGCCGGGACTAGAATTGAGGCACGCTGGTGCCCTGGCTTGGTGGGGAGGGGCGGTGTAGGGGGCATCAGCCTCCACCCCGGAGGTGCCCGGAGGAAGGGGGAAGCCTGCGAGGGGCTGTTCCGGCTTTCAGGCTGCTGGGGGTTATATCTTGTTGTGTGAGTCCAGGTGGGCTGGAGGATGGAGGCCAGGGGAGGGGCCACCATCTAGTAAGCGGGGTCTGGGCTCCAGCCAGGCCATCCGGCGTGGTCATTGCTGTGCCTCCGACACCTTCCCCTGCTGCTGTGTGCATGCCCAGGGTGCCTCACCTGCAGGCTGAGCTGCGTGGCTGAACTCCAGCCTCAGGCTGCTCCTCTGAAAGCCATGCCTGGAGGGAACAGCCCCACGGCTCAGGCCTGTCCTGGGGGCCTAGGCCAGGACTCTTGGCTCCACCTGCTTGCAGGGTCTGTGAGGAATGGGAAGGTGTGGGGGCTTGGAGCGGAGAGTCGCCCTCTCACAGATGGGATAACACAAGCCCAGAGAGAGCCCTAGATCCCATGGCCAGTGTGCAGTGAAACCCCCAAAAGTACAGGCCTCTTGCTTAGAGTTCCTCTTTCCCCCAACCTAGGACCTTTGGGAGAAGGCAAGCATCCACTTAAGGAAAGCTGGGGCCCTGGGGGACCCTGCCTTGCTGTGGGGCTGTCTGGGGGGCCCACACCTGAGGCTGAGCATTCCTCCTTTCCCCCAGGTCCACCAGCATCAGCCCCCCGAGGGGACCTGATGTTCCTGCTGGACAGCTCAGCCAGCGTCTCTCACTACGAGTTCTCCCGGGTTCGGGAGTTTGTGGGGCAGCTGGTGGCTCCACTGCCCCTGGGCACCGGGGCCCTGCGTGCCAGTCTGGTGCACGTGGGCAGTCGGCCATACACCGAGTTCCCCTTCGGCCAGCACAGCTCGGGTGAGGCTGCCCAGGATGCGGTGCGTGCTTCTGCCCAGCGCATGGGTGACACCCACACTGGCCTGGCGCTGGTCTATGCCAAGGAACAGCTGTTTGCTGAAGCATCAGGTGCCCGGCCAGGGGTGCCCAAAGTGCTGGTGTGGGTGACAGATGGCGGCTCCAGCGACCCTGTGGGCCCCCCCATGCAGGAGCTCAAGGACCTGGGCGTCACCGTGTTCATTGTCAGCACCGGCCGAGGCAACTTCCTGGAGCTGTCAGCCGCTGCCTCAGCCCCTGCCGAGAAGCACCTGCACTTTGTGGACGTGGATGACCTGCACATCATTGTCCAAGAGCTGAGGGGCTCCATTCTCGGTATGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCTCCTGAGCATG	CCACGTCCCTCCTCCGGGGTGGAGACAGCGGGGGGAGGGCAGGACACAAGAATGAGTCCTGAAGACTGAGGGGCACGGGGAGAGCTGATGGGGAGGGTCTCCTAGCTGGAGGGACTCCAGGCAGAGCCGGGAGCAAGGCAGGTGGCTGAGCTCGGCCCAGGCTGGGTGGAGGCCAGGCCTCCTGTGCCTTCTCCCGCTGATGGCGAGCTGAAGGGAGGAGGGCGGCCGCTTCCTTGAGGGCCTGAGTCACAGCCAAGAAGACCCGCTCACTTTTTCCAGAAGTGAGGGAAACTTCCCCGTCAGCCCTGCAAGGCTGGCTGAGGTGTGACTGTGGCCCGCCTGCTGGGCGAGGGTGGGGGACAAGCGGGCCACTGGCTGTGAGCCTCCCCAGGGTGGGGGACCCTCGGCCCAGCTCCCTGCCTGACTACCTGGACGTGCCTCCGCAGGGTCTGCAGCCAGCTTCCGGTCAGACCCCAGGTCCTCCAGCGGCTGCGGCCTTCAGCGTCATCTCCACGGCAGCCCCTGTGTACTGGGGGCTGGGGGGCCTGGCGAGGCCCCTCGAAGTGGTACAGCTTGCACTCTGGGGACCCAAAGTCCCCCCACCGGGCCCAGGCGGAAGCACCAGGCATTTCTGGTCCCAGCCGAGGTCTGAGGTCTGTGGAGCGCAGCCAGCACCTCCACTGCCAAGATCCCCGGCAGGGGGGGTGGGGGGCGCCGGCGGGGACACAGCTCTCCCTTGTTCCTGCCGCCAGCTCCTCAGCCTCAGCCTGCTGCTTCCTTTTTTAGGCAAAGTCGAGTGCTGGCCGTCCGCACGGCCCCGCGGTGTCTCACCTGCCTGAAAGGGAGGAAGGAAGCCTGTGGAGCCCCATCCGTTCTCCCGCGGCGCATCCTCCAGGAGAGGGTGGGGAAGGAGGAGACATCCTGGCAGACACCCCCCCACGTCCCCCACCTCCCAGCTCTGAGCTGAGGAGGCCCTGGAAGAGGGCCATGGCTACTCCGAGGGAGGGCCGGGGTAGGGTTCTCCTGTCCAGGGGACACTGCTGGCCCAGCCCCACCCAAGCAGGGGAAATCTGCCCTGGGAGCCACTGTCCCTCAGGACGCCCCCTGCAACCAGCCACCTCTCGTCTGGGCCTCACCAAGACCCCAAGACTCAAGAGCTCCTGTCTCACCAGTGGGACCCTCCAGTCCTGCTGGGGGTGTGTCCTGGGTCCTGGAGTCTGGGCCCCTCACTGGGTAGGGTATATGGGTAACAGGCCCAGTGTGGTCCCACTGGACAGGGCCTCAACCAACCATCTCCCACTCCCATGCCTCTTCCTCCAAGAAGCCCAGGTGGCGTGGGTGCTTCGAGTCTCTCTCGAATTCCTGTCTTCTGTCCCCTTTCAAGCCACTGTGTCCTTGTAAGTTCCACCCCATGGTCCTTCCCATCCCTGCTGGTCAGTCCCTGGGATACATGTCCTGTTACTCCAGACACCTATCCGCCTCCAGCGCGGAGGCCAAGGCGAAACCACGGTCTGGACGTGTTTTTTTGGTGCCACCGCCAGCCCCTGGGGTTCTCTTGGGCCTGGCTGCTGGGACCCCAGCACCCAGAGTCACGGCAGTGGTGGGCATGGGGAGGGCCTAGCCTGGTACCTCCCTGCTCGGCTCCCGCGGCTGGGGGTCGGAGAGGGGTGGAGAGCGTGGGCCGCACAGCCTCGGCCGGGAGAGGGAGACTGGAGTGTGTGTGTGTGCGTGCCTGCGCGTGCGTGCCTCGGTCGTATCTCGGCTGGTGCTGCGTGTCCCTGCGTGTCGGGGTCCGCTCGTGCGCGCCTCTCCGGGGTCTGTGCGCGTGGCCCTCCGCTCGCGCCGGAGGGCGTGGGCGTGGCCTCGGCGTGGGTGTGGCCGCTCGGGGAGGGGCCTCCCGGGGGCGGGGCCGGCCTGGTCCGCGCGGTGACGCGCCCTGCAGCCCCGAGCGAGCGAGCGAGCGAGCGAGTTGCCGAGCGCGCCCCGTCCCTCGCGCGCGATGCTCCCCTGGACGGCGCTCGGCCTGGCCCTGAGCTTGCGGCTGGCGCTGGCGCGGAGCGGCGCGGAGCGGCGCGGAGCGCGGTGAGTGCGGCGGGCGGCCGGGCCGGGGCTGGGGCTTCTGGTGACCGCTCTGCGCCGCTGCCCGCGCAAGGCCGTCGCTGTCCCCTGCTCCGGACGGGCGGGCGGGCTGGGAGGCTGCGGGAGCCGGGCGGGGGCGCGGGCGGAGCGTCCTGCTCACCTGAGGCTGGCGGCCCAGGTGCTCCAGGCGACACCGTCCGTGAGCGCCGGGGCATAGGGGCCGTCCCGGCCCGCATCTCTGCGGGATCGCGGGCCTGGACAGGAAGAGGGAGATGTCTGTCAAGGGGGCACCCCTGCCTCAGTTTCCCTACCCTTGCGAGGGCCCTTAGTGGAGGGATGGTAGGGAAGTTGGAGTCGCCCCACCGCACTGGGGAAAACCGCAAGGCCGGGACTAGAATTGAGGCACGCTGGTGCCCTGGCTTGGTGGGGAGGGGCGGTGTAGGGGGCATCAGCCTCCACCCCGGAGGTGCCCGGAGGAAGGGGGAAGCCTGCGAGGGGCTGTTCCGGCTTTCAGGCTGCTGGGGGTTATATCTTGTTGTGTGAGTCCAGGTGGGCTGGAGGATGGAGGCCAGGGGAGGGGCCACCATCTAGTAAGCGGGGTCTGGGCTCCAGCCAGGCCATCCGGCGTGGTCATTGCTGTGCCTCCGACACCTTCCCCTGCTGCTGTGTGCATGCCCAGGGTGCCTCACCTGCAGGCTGAGCTGCGTGGCTGAACTCCAGCCTCAGGCTGCTCCTCTGAAAGCCATGCCTGGAGGGAACAGCCCCACGGCTCAGGCCTGTCCTGGGGGCCTAGGCCAGGACTCTTGGCTCCACCTGCTTGCAGGGTCTGTGAGGAATGGGAAGGTGTGGGGGCTTGGAGCGGAGAGTCGCCCTCTCACAGATGGGATAACACAAGCCCAGAGAGAGCCCTAGATCCCATGGCCAGTGTGCAGTGAAACCCCCAAAAGTACAGGCCTCTTGCTTAGAGTTCCTCTTTCCCCCAACCTAGGACCTTTGGGAGAAGGCAAGCATCCACTTAAGGAAAGCTGGGGCCCTGGGGGACCCTGCCTTGCTGTGGGGCTGTCTGGGGGGCCCACACCTGAGGCTGAGCATTCCTCCTTTCCCCCAGGTCCACCAGCATCAGCCCCCCGAGGGGACCTGATGTTCCTGCTGGACAGCTCAGCCAGCGTCTCTCACTACGAGTTCTCCCGGGTTCGGGAGTTTGTGGGGCAGCTGGTGGCTCCACTGCCCCTGGGCACCGGGGCCCTGCGTGCCAGTCTGGTGCACGTGGGCAGTCGGCCATACACCGAGTTCCCCTTCGGCCAGCACAGCTCGGGTGAGGCTGCCCAGGATGCGGTGCGTGCTTCTGCCCAGCGCATGGGTGACACCCACACTGGCCTGGCGCTGGTCTATGCCAAGGAACAGCTGTTTGCTGAAGCATCAGGTGCCCGGCCAGGGGTGCCCAAAGTGCTGGTGTGGGTGACAGATGGCGGCTCCAGCGACCCTGTGGGCCCCCCCATGCAGGAGCTCAAGGACCTGGGCGTCACCGTGTTCATTGTCAGCACCGGCCGAGGCAACTTCCTGGAGCTGTCAGCCGCTGCCTCAGCCCCTGCCGAGAAGCACCTGCACTTTGTGGACGTGGATGACCTGCACATCATTGTCCAAGAGCTGAGGGGCTCCATTCTCGGTATGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCT	pathogenic	369
Mutation found at chromosome 1 position 1437308, gene VWA1 (von Willebrand factor A domain containing 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).	pathogenic; ['Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7']	TCTGGACGTGTTTTTTTGGTGCCACCGCCAGCCCCTGGGGTTCTCTTGGGCCTGGCTGCTGGGACCCCAGCACCCAGAGTCACGGCAGTGGTGGGCATGGGGAGGGCCTAGCCTGGTACCTCCCTGCTCGGCTCCCGCGGCTGGGGGTCGGAGAGGGGTGGAGAGCGTGGGCCGCACAGCCTCGGCCGGGAGAGGGAGACTGGAGTGTGTGTGTGTGCGTGCCTGCGCGTGCGTGCCTCGGTCGTATCTCGGCTGGTGCTGCGTGTCCCTGCGTGTCGGGGTCCGCTCGTGCGCGCCTCTCCGGGGTCTGTGCGCGTGGCCCTCCGCTCGCGCCGGAGGGCGTGGGCGTGGCCTCGGCGTGGGTGTGGCCGCTCGGGGAGGGGCCTCCCGGGGGCGGGGCCGGCCTGGTCCGCGCGGTGACGCGCCCTGCAGCCCCGAGCGAGCGAGCGAGCGAGCGAGTTGCCGAGCGCGCCCCGTCCCTCGCGCGCGATGCTCCCCTGGACGGCGCTCGGCCTGGCCCTGAGCTTGCGGCTGGCGCTGGCGCGGAGCGGCGCGGAGCGCGGTGAGTGCGGCGGGCGGCCGGGCCGGGGCTGGGGCTTCTGGTGACCGCTCTGCGCCGCTGCCCGCGCAAGGCCGTCGCTGTCCCCTGCTCCGGACGGGCGGGCGGGCTGGGAGGCTGCGGGAGCCGGGCGGGGGCGCGGGCGGAGCGTCCTGCTCACCTGAGGCTGGCGGCCCAGGTGCTCCAGGCGACACCGTCCGTGAGCGCCGGGGCATAGGGGCCGTCCCGGCCCGCATCTCTGCGGGATCGCGGGCCTGGACAGGAAGAGGGAGATGTCTGTCAAGGGGGCACCCCTGCCTCAGTTTCCCTACCCTTGCGAGGGCCCTTAGTGGAGGGATGGTAGGGAAGTTGGAGTCGCCCCACCGCACTGGGGAAAACCGCAAGGCCGGGACTAGAATTGAGGCACGCTGGTGCCCTGGCTTGGTGGGGAGGGGCGGTGTAGGGGGCATCAGCCTCCACCCCGGAGGTGCCCGGAGGAAGGGGGAAGCCTGCGAGGGGCTGTTCCGGCTTTCAGGCTGCTGGGGGTTATATCTTGTTGTGTGAGTCCAGGTGGGCTGGAGGATGGAGGCCAGGGGAGGGGCCACCATCTAGTAAGCGGGGTCTGGGCTCCAGCCAGGCCATCCGGCGTGGTCATTGCTGTGCCTCCGACACCTTCCCCTGCTGCTGTGTGCATGCCCAGGGTGCCTCACCTGCAGGCTGAGCTGCGTGGCTGAACTCCAGCCTCAGGCTGCTCCTCTGAAAGCCATGCCTGGAGGGAACAGCCCCACGGCTCAGGCCTGTCCTGGGGGCCTAGGCCAGGACTCTTGGCTCCACCTGCTTGCAGGGTCTGTGAGGAATGGGAAGGTGTGGGGGCTTGGAGCGGAGAGTCGCCCTCTCACAGATGGGATAACACAAGCCCAGAGAGAGCCCTAGATCCCATGGCCAGTGTGCAGTGAAACCCCCAAAAGTACAGGCCTCTTGCTTAGAGTTCCTCTTTCCCCCAACCTAGGACCTTTGGGAGAAGGCAAGCATCCACTTAAGGAAAGCTGGGGCCCTGGGGGACCCTGCCTTGCTGTGGGGCTGTCTGGGGGGCCCACACCTGAGGCTGAGCATTCCTCCTTTCCCCCAGGTCCACCAGCATCAGCCCCCCGAGGGGACCTGATGTTCCTGCTGGACAGCTCAGCCAGCGTCTCTCACTACGAGTTCTCCCGGGTTCGGGAGTTTGTGGGGCAGCTGGTGGCTCCACTGCCCCTGGGCACCGGGGCCCTGCGTGCCAGTCTGGTGCACGTGGGCAGTCGGCCATACACCGAGTTCCCCTTCGGCCAGCACAGCTCGGGTGAGGCTGCCCAGGATGCGGTGCGTGCTTCTGCCCAGCGCATGGGTGACACCCACACTGGCCTGGCGCTGGTCTATGCCAAGGAACAGCTGTTTGCTGAAGCATCAGGTGCCCGGCCAGGGGTGCCCAAAGTGCTGGTGTGGGTGACAGATGGCGGCTCCAGCGACCCTGTGGGCCCCCCCATGCAGGAGCTCAAGGACCTGGGCGTCACCGTGTTCATTGTCAGCACCGGCCGAGGCAACTTCCTGGAGCTGTCAGCCGCTGCCTCAGCCCCTGCCGAGAAGCACCTGCACTTTGTGGACGTGGATGACCTGCACATCATTGTCCAAGAGCTGAGGGGCTCCATTCTCGGTATGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCTCCTGAGCATGCCCACCATACCTGGAGAGGGGTGAGCCAGAAAGGTCAGGGACTGCCCCCCCAGAGAGCACAGGGCACCTCTCCTGGGTGGGGACAGCCGCCGAGGGCTTTGAACTAGTTCGGACTGCAGGCCCACTGTGAGGGTTTCCTGAGAGGCCGGACCAGGGAAGGCCTGAGGCAGGAGCTGAGCAGCTCCCATTGGCTTTTTTTCTGGACCTCCCTGCCCCAGCCAAGCCCTGAAGGAGCTGGGGCTGGAGATGAGGAACCGGCCACTGGCTCAGCCTGCTGCAGCCACTGAAAAATGCCAACCCTGGGGATCTCACCAAGTCTCCGTCTGTGGGTTAATCATCCACCCAGAGCCGGAAGGGGTTGGACTGTGGGTTGGAGAGGGGTGGACGGCCCTCCCCAAGGTTTCCCCAGGGACGTCTGGCCCCTAGTGGCCCCAGGTCACCCAGTGCAGCTGCGCCTGGAGGGGACCAGGAGGAAAGGCTGCCTTAAGCAGCCAAAGGAAAAGCCTGAGGCTGCAGTGCCGAGGGGCCAGGCAGCAGGGTGGGGGCTCCTGGGAAAGAGGCCGGGTCTGAGGGTGGGGGATGGGAAGAAAGTGGCCCAGGCACCCAGCACTGCAGGAGGAAGATCCTGATAGCTTTAACCCAGCGCAGACATTTATGAGCCTCGCCACAGCAGGGTCACTCAGAGGGCTATGTGGGGCTTGGTGTCACAGGTCCAGGAGTCCCCCTCTGGAGAACCCCACCCCACACTCTCCTGGGGACCCAGGGCAGGCAGCGCCTCCAGAACCCCAGGGCCTGCCCCTGTGGTCTCCCATCTCCTAGCTGCAGCTCAGAGAGCCGGGCTGACCTCAGACCCCGGCCTGGCCACTCAGGCTGGGGCTGGTCCTCTGCTCTCAGGCACCACCGTGGACTCTGCCGTCTTTGAGGACCTTTGTCCTGGTCACTGATCTGGCCACTGCACCTCTCCACAAAGGACTGGGTTTGGGGCTAAGGGAGGCAGGGGCGCTTCTGACAGGGCCTGAGGGGGCTGCACCCTTTCCTCCGTCCTCCCCCAGCCAAGGCACGTTCTGAGAATCCCCAGCATCTGCGGGGCATGGCTCCAGCAGCTCCTTGGCCGCGGGGCCCCGTCTTTCCTAGTGGGGCCTCCAATCTCCAGATCTTCCCCATCAGCCAGGGCCGCCCTCCAGCAGCGGAGGAGGAACTGACCGCTGTTCCCTGACCCCCTGCACCACCCACAGACGCGATGCGGCCGCAGCAGCTCCATGCCACGGAGATCACGTCCAGCGGCTTCCGCCTGGCCTGGCCACCCCTGCTGACCGCAGACTCGGGCTACTATGTGCTGGAGCTGGTGCCCAGCGCCCAGCCGGGGGCTGCAAGACGCCAGCAGCTGCCAGGGAACGCCACGGACTGGATCTGGGCCGGCCTCGACCCGGACACGGACTACGACGTGGCGCTAGTGCCTGAGTCCAACGTGCGCCTCCTGAGGCCCCAGATCCTGCGGGTGCGCACGCGG	TCTGGACGTGTTTTTTTGGTGCCACCGCCAGCCCCTGGGGTTCTCTTGGGCCTGGCTGCTGGGACCCCAGCACCCAGAGTCACGGCAGTGGTGGGCATGGGGAGGGCCTAGCCTGGTACCTCCCTGCTCGGCTCCCGCGGCTGGGGGTCGGAGAGGGGTGGAGAGCGTGGGCCGCACAGCCTCGGCCGGGAGAGGGAGACTGGAGTGTGTGTGTGTGCGTGCCTGCGCGTGCGTGCCTCGGTCGTATCTCGGCTGGTGCTGCGTGTCCCTGCGTGTCGGGGTCCGCTCGTGCGCGCCTCTCCGGGGTCTGTGCGCGTGGCCCTCCGCTCGCGCCGGAGGGCGTGGGCGTGGCCTCGGCGTGGGTGTGGCCGCTCGGGGAGGGGCCTCCCGGGGGCGGGGCCGGCCTGGTCCGCGCGGTGACGCGCCCTGCAGCCCCGAGCGAGCGAGCGAGCGAGCGAGTTGCCGAGCGCGCCCCGTCCCTCGCGCGCGATGCTCCCCTGGACGGCGCTCGGCCTGGCCCTGAGCTTGCGGCTGGCGCTGGCGCGGAGCGGCGCGGAGCGCGGTGAGTGCGGCGGGCGGCCGGGCCGGGGCTGGGGCTTCTGGTGACCGCTCTGCGCCGCTGCCCGCGCAAGGCCGTCGCTGTCCCCTGCTCCGGACGGGCGGGCGGGCTGGGAGGCTGCGGGAGCCGGGCGGGGGCGCGGGCGGAGCGTCCTGCTCACCTGAGGCTGGCGGCCCAGGTGCTCCAGGCGACACCGTCCGTGAGCGCCGGGGCATAGGGGCCGTCCCGGCCCGCATCTCTGCGGGATCGCGGGCCTGGACAGGAAGAGGGAGATGTCTGTCAAGGGGGCACCCCTGCCTCAGTTTCCCTACCCTTGCGAGGGCCCTTAGTGGAGGGATGGTAGGGAAGTTGGAGTCGCCCCACCGCACTGGGGAAAACCGCAAGGCCGGGACTAGAATTGAGGCACGCTGGTGCCCTGGCTTGGTGGGGAGGGGCGGTGTAGGGGGCATCAGCCTCCACCCCGGAGGTGCCCGGAGGAAGGGGGAAGCCTGCGAGGGGCTGTTCCGGCTTTCAGGCTGCTGGGGGTTATATCTTGTTGTGTGAGTCCAGGTGGGCTGGAGGATGGAGGCCAGGGGAGGGGCCACCATCTAGTAAGCGGGGTCTGGGCTCCAGCCAGGCCATCCGGCGTGGTCATTGCTGTGCCTCCGACACCTTCCCCTGCTGCTGTGTGCATGCCCAGGGTGCCTCACCTGCAGGCTGAGCTGCGTGGCTGAACTCCAGCCTCAGGCTGCTCCTCTGAAAGCCATGCCTGGAGGGAACAGCCCCACGGCTCAGGCCTGTCCTGGGGGCCTAGGCCAGGACTCTTGGCTCCACCTGCTTGCAGGGTCTGTGAGGAATGGGAAGGTGTGGGGGCTTGGAGCGGAGAGTCGCCCTCTCACAGATGGGATAACACAAGCCCAGAGAGAGCCCTAGATCCCATGGCCAGTGTGCAGTGAAACCCCCAAAAGTACAGGCCTCTTGCTTAGAGTTCCTCTTTCCCCCAACCTAGGACCTTTGGGAGAAGGCAAGCATCCACTTAAGGAAAGCTGGGGCCCTGGGGGACCCTGCCTTGCTGTGGGGCTGTCTGGGGGGCCCACACCTGAGGCTGAGCATTCCTCCTTTCCCCCAGGTCCACCAGCATCAGCCCCCCGAGGGGACCTGATGTTCCTGCTGGACAGCTCAGCCAGCGTCTCTCACTACGAGTTCTCCCGGGTTCGGGAGTTTGTGGGGCAGCTGGTGGCTCCACTGCCCCTGGGCACCGGGGCCCTGCGTGCCAGTCTGGTGCACGTGGGCAGTCGGCCATACACCGAGTTCCCCTTCGGCCAGCACAGCTCGGGTGAGGCTGCCCAGGATGCGGTGCGTGCTTCTGCCCAGCGCATGGGTGACACCCACACTGGCCTGGCGCTGGTCTATGCCAAGGAACAGCTGTTTGCTGAAGCATCAGGTGCCCGGCCAGGGGTGCCCAAAGTGCTGGTGTGGGTGACAGATGGCGGCTCCAGCGACCCTGTGGGCCCCCCATGCAGGAGCTCAAGGACCTGGGCGTCACCGTGTTCATTGTCAGCACCGGCCGAGGCAACTTCCTGGAGCTGTCAGCCGCTGCCTCAGCCCCTGCCGAGAAGCACCTGCACTTTGTGGACGTGGATGACCTGCACATCATTGTCCAAGAGCTGAGGGGCTCCATTCTCGGTATGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCTCCTGAGCATGCCCACCATACCTGGAGAGGGGTGAGCCAGAAAGGTCAGGGACTGCCCCCCCAGAGAGCACAGGGCACCTCTCCTGGGTGGGGACAGCCGCCGAGGGCTTTGAACTAGTTCGGACTGCAGGCCCACTGTGAGGGTTTCCTGAGAGGCCGGACCAGGGAAGGCCTGAGGCAGGAGCTGAGCAGCTCCCATTGGCTTTTTTTCTGGACCTCCCTGCCCCAGCCAAGCCCTGAAGGAGCTGGGGCTGGAGATGAGGAACCGGCCACTGGCTCAGCCTGCTGCAGCCACTGAAAAATGCCAACCCTGGGGATCTCACCAAGTCTCCGTCTGTGGGTTAATCATCCACCCAGAGCCGGAAGGGGTTGGACTGTGGGTTGGAGAGGGGTGGACGGCCCTCCCCAAGGTTTCCCCAGGGACGTCTGGCCCCTAGTGGCCCCAGGTCACCCAGTGCAGCTGCGCCTGGAGGGGACCAGGAGGAAAGGCTGCCTTAAGCAGCCAAAGGAAAAGCCTGAGGCTGCAGTGCCGAGGGGCCAGGCAGCAGGGTGGGGGCTCCTGGGAAAGAGGCCGGGTCTGAGGGTGGGGGATGGGAAGAAAGTGGCCCAGGCACCCAGCACTGCAGGAGGAAGATCCTGATAGCTTTAACCCAGCGCAGACATTTATGAGCCTCGCCACAGCAGGGTCACTCAGAGGGCTATGTGGGGCTTGGTGTCACAGGTCCAGGAGTCCCCCTCTGGAGAACCCCACCCCACACTCTCCTGGGGACCCAGGGCAGGCAGCGCCTCCAGAACCCCAGGGCCTGCCCCTGTGGTCTCCCATCTCCTAGCTGCAGCTCAGAGAGCCGGGCTGACCTCAGACCCCGGCCTGGCCACTCAGGCTGGGGCTGGTCCTCTGCTCTCAGGCACCACCGTGGACTCTGCCGTCTTTGAGGACCTTTGTCCTGGTCACTGATCTGGCCACTGCACCTCTCCACAAAGGACTGGGTTTGGGGCTAAGGGAGGCAGGGGCGCTTCTGACAGGGCCTGAGGGGGCTGCACCCTTTCCTCCGTCCTCCCCCAGCCAAGGCACGTTCTGAGAATCCCCAGCATCTGCGGGGCATGGCTCCAGCAGCTCCTTGGCCGCGGGGCCCCGTCTTTCCTAGTGGGGCCTCCAATCTCCAGATCTTCCCCATCAGCCAGGGCCGCCCTCCAGCAGCGGAGGAGGAACTGACCGCTGTTCCCTGACCCCCTGCACCACCCACAGACGCGATGCGGCCGCAGCAGCTCCATGCCACGGAGATCACGTCCAGCGGCTTCCGCCTGGCCTGGCCACCCCTGCTGACCGCAGACTCGGGCTACTATGTGCTGGAGCTGGTGCCCAGCGCCCAGCCGGGGGCTGCAAGACGCCAGCAGCTGCCAGGGAACGCCACGGACTGGATCTGGGCCGGCCTCGACCCGGACACGGACTACGACGTGGCGCTAGTGCCTGAGTCCAACGTGCGCCTCCTGAGGCCCCAGATCCTGCGGGTGCGCACGCGGN	pathogenic	371
Is chromosome 1, position 1439536, gene VWA1 (von Willebrand factor A domain containing 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?	pathogenic; ['Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7']	TGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCTCCTGAGCATGCCCACCATACCTGGAGAGGGGTGAGCCAGAAAGGTCAGGGACTGCCCCCCCAGAGAGCACAGGGCACCTCTCCTGGGTGGGGACAGCCGCCGAGGGCTTTGAACTAGTTCGGACTGCAGGCCCACTGTGAGGGTTTCCTGAGAGGCCGGACCAGGGAAGGCCTGAGGCAGGAGCTGAGCAGCTCCCATTGGCTTTTTTTCTGGACCTCCCTGCCCCAGCCAAGCCCTGAAGGAGCTGGGGCTGGAGATGAGGAACCGGCCACTGGCTCAGCCTGCTGCAGCCACTGAAAAATGCCAACCCTGGGGATCTCACCAAGTCTCCGTCTGTGGGTTAATCATCCACCCAGAGCCGGAAGGGGTTGGACTGTGGGTTGGAGAGGGGTGGACGGCCCTCCCCAAGGTTTCCCCAGGGACGTCTGGCCCCTAGTGGCCCCAGGTCACCCAGTGCAGCTGCGCCTGGAGGGGACCAGGAGGAAAGGCTGCCTTAAGCAGCCAAAGGAAAAGCCTGAGGCTGCAGTGCCGAGGGGCCAGGCAGCAGGGTGGGGGCTCCTGGGAAAGAGGCCGGGTCTGAGGGTGGGGGATGGGAAGAAAGTGGCCCAGGCACCCAGCACTGCAGGAGGAAGATCCTGATAGCTTTAACCCAGCGCAGACATTTATGAGCCTCGCCACAGCAGGGTCACTCAGAGGGCTATGTGGGGCTTGGTGTCACAGGTCCAGGAGTCCCCCTCTGGAGAACCCCACCCCACACTCTCCTGGGGACCCAGGGCAGGCAGCGCCTCCAGAACCCCAGGGCCTGCCCCTGTGGTCTCCCATCTCCTAGCTGCAGCTCAGAGAGCCGGGCTGACCTCAGACCCCGGCCTGGCCACTCAGGCTGGGGCTGGTCCTCTGCTCTCAGGCACCACCGTGGACTCTGCCGTCTTTGAGGACCTTTGTCCTGGTCACTGATCTGGCCACTGCACCTCTCCACAAAGGACTGGGTTTGGGGCTAAGGGAGGCAGGGGCGCTTCTGACAGGGCCTGAGGGGGCTGCACCCTTTCCTCCGTCCTCCCCCAGCCAAGGCACGTTCTGAGAATCCCCAGCATCTGCGGGGCATGGCTCCAGCAGCTCCTTGGCCGCGGGGCCCCGTCTTTCCTAGTGGGGCCTCCAATCTCCAGATCTTCCCCATCAGCCAGGGCCGCCCTCCAGCAGCGGAGGAGGAACTGACCGCTGTTCCCTGACCCCCTGCACCACCCACAGACGCGATGCGGCCGCAGCAGCTCCATGCCACGGAGATCACGTCCAGCGGCTTCCGCCTGGCCTGGCCACCCCTGCTGACCGCAGACTCGGGCTACTATGTGCTGGAGCTGGTGCCCAGCGCCCAGCCGGGGGCTGCAAGACGCCAGCAGCTGCCAGGGAACGCCACGGACTGGATCTGGGCCGGCCTCGACCCGGACACGGACTACGACGTGGCGCTAGTGCCTGAGTCCAACGTGCGCCTCCTGAGGCCCCAGATCCTGCGGGTGCGCACGCGGCCCGGTGAGGCAGGGCCGGGGGCTTCGGGCCCGGAGTCGGGGGCTGGGCCGGCCCCCACGCAGCTCGCCGCCCTCCCCGCCCCAGAGGAGGCCGGGCCAGAGCGCATCGTCATCTCCCACGCCCGGCCGCGCAGCCTCCGCGTGAGTTGGGCCCCAGCGCTGGGCTCAGCCGCGGCGCTCGGCTACCACGTGCAGTTCGGGCCGCTGCGGGGCGGGGAGGCGCAGCGGGTGGAGGTGCCCGCGGGCCGCAACTGCACCACGCTGCAGGGCCTGGCGCCGGGCACCGCCTACCTGGTGACCGTGACCGCCGCCTTCCGCTCGGGCCGCGAGAGCGCGCTGTCCGCCAAGGCCTGCACGCCCGACGGCCCGCGCCCGCGCCCACGCCCCGTGCCCCGCGCCCCGACCCCGGGGACCGCCAGCCGTGAGCCGTAAGCCGGCGTCCCCGCCCAGCCGAGAGGGCCGGCGCCTACCTGAGGGCCCCTGTGTCCCGAACCCGGAGCGGAGGCGCCCAACCCGGCAGACGGGTGCAGGCCCGGCCTTTCCCCACGCGGACTCCGCGCGACCCCGGCCCTCTCCCTGCGGCCGCAGGGCTTCCCCGCCTGGCGCCTGCCCTCCAGGGCTGGGGCCTCGCCTGGCGGGACCCCGCAGCAGCCCCGGCCCCATCCCCGCCCAGAGCCGGGCGTCGTGTGGGTCCGTGGGTGATAATTGAGAGCGTCAGACCCAGGACTGTTCAGGGAGGAGCCCCGGTCAGACTCCCACGTGTGAAGACCGGGCCCCAAGTGGCAAGGGCTGGCCTGGGGCGGGCAGCTTGGGTCCTGGACGTTGATAGGAAGCGGAAGGGGAATCGCGGGAAGCTGGCCCAGGTCAGGTCCGCAAAGGCTTCTGAAGAAGAGGAAGGGCGAGTAGGGGCACCTGGACGCTGATGGTGGCCAGGATGCTCAGCTGGCCAGGAGGGCAGCACCTGCTGGGGACGGTGGCCCTGCCTTCATGCCCAGGACACCAGCTGGGTCCAGCTAGCAGCCACTGGGAATCAGAGGAATGGGGCAGAGCTGGGCATTCAGGACCTTGAGGACACGTGACCCCACCCGCCCACCGCCACTATCAGGCCCCGGGACCGCACTGACAGGAAACCTTCCGTCGTGAGGGAGCACTTCCCAGGGGCCGCAGGGACGACACTCTCCAGGGAGGCCCCAGCAACCACACCATCTTCTTGCTGTGAGAGGTCTCACCCCGGGCTACCTCCTGTCACTACTCACTGCCCTGGGGTCCGTGGGCAAGTTGCCCAGGGTGGGGGTGCCTAGCCAGGTGCAGTCCCCGCCCCGCCTAGTCCTCGGCGTCACGCAATGCTCACCTCGCCTCTTCCCCACTAACATCCCAGACTTTAAAATTCAGTAAATCAGATGTACACCGAGCCTGCAGTCTCGCTAGGATGCTTTACTCCTCCACAAACAGCAGCCGCCGACAGGACAGCTTGTGAACGTCTCCGCCTTTTGGGGTGTCCGGGGAGAGGAGGTGGAGCTGTCCCCTCCCAGTGTCAGGCCTCCTTGGTCCTCATGTGCACCTTTTATTCAGAGAGCTTGGGCCCCCTTCCTTTGGAGCTGGGCCCAGGGCAGGTGGCTGGAATGCAGAGGACAAGGGGGCTGGGGCCTCTGCAGGGCCATTCCCACCGCAGTCTCTGCCACGGCCCGGAGCCCTGGGCCCAGGGCCACGCGGGCTCCCTCTGCTGGCAAAGCCACACCCTGCACCGCATGGGGTCCACTGCCCCTTTCCCCACGTGGACTCTGCGTGACCCCAGGAACTGCAGCATTGAGGTGGTCTCAGTCCCTCCCTCAGGTCTGGTGGGCATTGTGCCAGGGGCCACCTTCGGGACAGCTGGCCTTGGCACCGTCTCCCAAGAACCCAGCTCTGTGCATCCCGTGGCCCCACCAGAAACCCAAGGCCACACCGCCCACCAGCTGGGTGTGGTCACCATTCATGGAGGGCCGGCTGGGGCCAGGCTCACCACGCAGAGTTTGCCCTCCGGTGTGATGATGCATGAGACACAGTAGGCCCCCCTGCCTGTGTGTGCAGGGGGTGTCTGTGGGGGGGCCCTGCTGGCTGGACTTTGGGTTTCTCCTGAGCTCCCCTTAGCCCCCAAGTCAGGCCACGGAGGCCTGAGTAGGACCCATGGGCTGTGTGTGTCACTGCAGGTGGCGTGCTCACAACTGCACTGCTGGTCGGCAGGTGGC	TGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCTCCTGAGCATGCCCACCATACCTGGAGAGGGGTGAGCCAGAAAGGTCAGGGACTGCCCCCCCAGAGAGCACAGGGCACCTCTCCTGGGTGGGGACAGCCGCCGAGGGCTTTGAACTAGTTCGGACTGCAGGCCCACTGTGAGGGTTTCCTGAGAGGCCGGACCAGGGAAGGCCTGAGGCAGGAGCTGAGCAGCTCCCATTGGCTTTTTTTCTGGACCTCCCTGCCCCAGCCAAGCCCTGAAGGAGCTGGGGCTGGAGATGAGGAACCGGCCACTGGCTCAGCCTGCTGCAGCCACTGAAAAATGCCAACCCTGGGGATCTCACCAAGTCTCCGTCTGTGGGTTAATCATCCACCCAGAGCCGGAAGGGGTTGGACTGTGGGTTGGAGAGGGGTGGACGGCCCTCCCCAAGGTTTCCCCAGGGACGTCTGGCCCCTAGTGGCCCCAGGTCACCCAGTGCAGCTGCGCCTGGAGGGGACCAGGAGGAAAGGCTGCCTTAAGCAGCCAAAGGAAAAGCCTGAGGCTGCAGTGCCGAGGGGCCAGGCAGCAGGGTGGGGGCTCCTGGGAAAGAGGCCGGGTCTGAGGGTGGGGGATGGGAAGAAAGTGGCCCAGGCACCCAGCACTGCAGGAGGAAGATCCTGATAGCTTTAACCCAGCGCAGACATTTATGAGCCTCGCCACAGCAGGGTCACTCAGAGGGCTATGTGGGGCTTGGTGTCACAGGTCCAGGAGTCCCCCTCTGGAGAACCCCACCCCACACTCTCCTGGGGACCCAGGGCAGGCAGCGCCTCCAGAACCCCAGGGCCTGCCCCTGTGGTCTCCCATCTCCTAGCTGCAGCTCAGAGAGCCGGGCTGACCTCAGACCCCGGCCTGGCCACTCAGGCTGGGGCTGGTCCTCTGCTCTCAGGCACCACCGTGGACTCTGCCGTCTTTGAGGACCTTTGTCCTGGTCACTGATCTGGCCACTGCACCTCTCCACAAAGGACTGGGTTTGGGGCTAAGGGAGGCAGGGGCGCTTCTGACAGGGCCTGAGGGGGCTGCACCCTTTCCTCCGTCCTCCCCCAGCCAAGGCACGTTCTGAGAATCCCCAGCATCTGCGGGGCATGGCTCCAGCAGCTCCTTGGCCGCGGGGCCCCGTCTTTCCTAGTGGGGCCTCCAATCTCCAGATCTTCCCCATCAGCCAGGGCCGCCCTCCAGCAGCGGAGGAGGAACTGACCGCTGTTCCCTGACCCCCTGCACCACCCACAGACGCGATGCGGCCGCAGCAGCTCCATGCCACGGAGATCACGTCCAGCGGCTTCCGCCTGGCCTGGCCACCCCTGCTGACCGCAGACTCGGGCTACTATGTGCTGGAGCTGGTGCCCAGCGCCCAGCCGGGGGCTGCAAGACGCCAGCAGCTGCCAGGGAACGCCACGGACTGGATCTGGGCCGGCCTCGACCCGGACACGGACTACGACGTGGCGCTAGTGCCTGAGTCCAACGTGCGCCTCCTGAGGCCCCAGATCCTGCGGGTGCGCACGCGGCCCGGTGAGGCAGGGCCGGGGGCTTCGGGCCCGGAGTCGGGGGCTGGGCCGGCCCCCACGCAGCTCGCCGCCCTCCCCGCCCCAGAGGAGGCCGGGCCAGAGCGCATCGTCATCTCCCACGCCCGGCCGCGCAGCCTCCGCGTGAGTTGGGCCCCAGCGCTGGGCTCAGCCGCGGCGCTCGGCTAGCTACCACGTGCAGTTCGGGCCGCTGCGGGGCGGGGAGGCGCAGCGGGTGGAGGTGCCCGCGGGCCGCAACTGCACCACGCTGCAGGGCCTGGCGCCGGGCACCGCCTACCTGGTGACCGTGACCGCCGCCTTCCGCTCGGGCCGCGAGAGCGCGCTGTCCGCCAAGGCCTGCACGCCCGACGGCCCGCGCCCGCGCCCACGCCCCGTGCCCCGCGCCCCGACCCCGGGGACCGCCAGCCGTGAGCCGTAAGCCGGCGTCCCCGCCCAGCCGAGAGGGCCGGCGCCTACCTGAGGGCCCCTGTGTCCCGAACCCGGAGCGGAGGCGCCCAACCCGGCAGACGGGTGCAGGCCCGGCCTTTCCCCACGCGGACTCCGCGCGACCCCGGCCCTCTCCCTGCGGCCGCAGGGCTTCCCCGCCTGGCGCCTGCCCTCCAGGGCTGGGGCCTCGCCTGGCGGGACCCCGCAGCAGCCCCGGCCCCATCCCCGCCCAGAGCCGGGCGTCGTGTGGGTCCGTGGGTGATAATTGAGAGCGTCAGACCCAGGACTGTTCAGGGAGGAGCCCCGGTCAGACTCCCACGTGTGAAGACCGGGCCCCAAGTGGCAAGGGCTGGCCTGGGGCGGGCAGCTTGGGTCCTGGACGTTGATAGGAAGCGGAAGGGGAATCGCGGGAAGCTGGCCCAGGTCAGGTCCGCAAAGGCTTCTGAAGAAGAGGAAGGGCGAGTAGGGGCACCTGGACGCTGATGGTGGCCAGGATGCTCAGCTGGCCAGGAGGGCAGCACCTGCTGGGGACGGTGGCCCTGCCTTCATGCCCAGGACACCAGCTGGGTCCAGCTAGCAGCCACTGGGAATCAGAGGAATGGGGCAGAGCTGGGCATTCAGGACCTTGAGGACACGTGACCCCACCCGCCCACCGCCACTATCAGGCCCCGGGACCGCACTGACAGGAAACCTTCCGTCGTGAGGGAGCACTTCCCAGGGGCCGCAGGGACGACACTCTCCAGGGAGGCCCCAGCAACCACACCATCTTCTTGCTGTGAGAGGTCTCACCCCGGGCTACCTCCTGTCACTACTCACTGCCCTGGGGTCCGTGGGCAAGTTGCCCAGGGTGGGGGTGCCTAGCCAGGTGCAGTCCCCGCCCCGCCTAGTCCTCGGCGTCACGCAATGCTCACCTCGCCTCTTCCCCACTAACATCCCAGACTTTAAAATTCAGTAAATCAGATGTACACCGAGCCTGCAGTCTCGCTAGGATGCTTTACTCCTCCACAAACAGCAGCCGCCGACAGGACAGCTTGTGAACGTCTCCGCCTTTTGGGGTGTCCGGGGAGAGGAGGTGGAGCTGTCCCCTCCCAGTGTCAGGCCTCCTTGGTCCTCATGTGCACCTTTTATTCAGAGAGCTTGGGCCCCCTTCCTTTGGAGCTGGGCCCAGGGCAGGTGGCTGGAATGCAGAGGACAAGGGGGCTGGGGCCTCTGCAGGGCCATTCCCACCGCAGTCTCTGCCACGGCCCGGAGCCCTGGGCCCAGGGCCACGCGGGCTCCCTCTGCTGGCAAAGCCACACCCTGCACCGCATGGGGTCCACTGCCCCTTTCCCCACGTGGACTCTGCGTGACCCCAGGAACTGCAGCATTGAGGTGGTCTCAGTCCCTCCCTCAGGTCTGGTGGGCATTGTGCCAGGGGCCACCTTCGGGACAGCTGGCCTTGGCACCGTCTCCCAAGAACCCAGCTCTGTGCATCCCGTGGCCCCACCAGAAACCCAAGGCCACACCGCCCACCAGCTGGGTGTGGTCACCATTCATGGAGGGCCGGCTGGGGCCAGGCTCACCACGCAGAGTTTGCCCTCCGGTGTGATGATGCATGAGACACAGTAGGCCCCCCTGCCTGTGTGTGCAGGGGGTGTCTGTGGGGGGGCCCTGCTGGCTGGACTTTGGGTTTCTCCTGAGCTCCCCTTAGCCCCCAAGTCAGGCCACGGAGGCCTGAGTAGGACCCATGGGCTGTGTGTGTCACTGCAGGTGGCGTGCTCACAACTGCACTGCTGGTCGGCAGG	pathogenic	377
The chromosome 1, position 2406525 genetic variant in gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? If pathogenic, indicate disease(s).	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']	AAAGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGC	AAAGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCNNNNNNNNNNNNN	pathogenic	758
Classify the chromosome 1 variant at position 2406527 affecting gene PEX10 (peroxisomal biogenesis factor 10) as benign or pathogenic. If pathogenic, which disease(s) is associated?	pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder,_complementation_group_7']	AGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAG	AGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCA	pathogenic	759
Variant at chromosome position 2406580, chromosome 1, gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? If pathogenic, what condition(s) does it relate to?	pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B', 'Zellweger_spectrum_disorders']	GCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCC	GCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCNN	pathogenic	764
Considering the variant on chromosome 1, location 2406599, involving gene PEX10 (peroxisomal biogenesis factor 10), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']	GTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACG	GTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGNN	pathogenic	765
Is chromosome 1, position 2406734, gene PEX10 (peroxisomal biogenesis factor 10) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']	TCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCG	TCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGN	pathogenic	771
Gene PEX10 (peroxisomal biogenesis factor 10) variant at chromosome 1, position 2406739—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']	GCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCG	GCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGNN	pathogenic	772
Regarding the variant found on chromosome 1 at position 2406791 in gene PEX10 (peroxisomal biogenesis factor 10): is it benign or pathogenic? If pathogenic, identify the disease(s).	pathogenic; ['PEX10-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B', 'Zellweger_spectrum_disorders']	CACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTC	CACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACT	pathogenic	775
Is the genetic variant on chromosome 1, position 2406792, gene PEX10 (peroxisomal biogenesis factor 10), benign or pathogenic? If pathogenic, what disease(s) is indicated?	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']	ACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCC	ACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCNNNNNNNNNNNN	pathogenic	776
A genetic variant at chromosome 1, position 2406931, affecting gene PEX10 (peroxisomal biogenesis factor 10)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']	TTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTG	TTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGNN	pathogenic	781
Gene PEX10 (peroxisomal biogenesis factor 10) variant at chromosome 1, position 2408464—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']	TGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGA	TGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGAN	pathogenic	785
Evaluate this variant at chromosome 1, position 2408500, gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']	CACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCA	CACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGTGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAN	pathogenic	786
Chromosome 1, position 2408555, gene PEX10 (peroxisomal biogenesis factor 10): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Spastic_ataxia']	TGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCT	TGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGAGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTN	pathogenic	788
Gene PEX10 (peroxisomal biogenesis factor 10) variant at chromosome position 2408628 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']	CAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGC	CAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAG	pathogenic	791
Clinical significance of chromosome 1, position 2408635, gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? Name the disease(s) if pathogenic.	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']	TTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTC	TTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCC	pathogenic	792
Does the genetic variant at chromosome 1, position 2408688, impacting gene PEX10 (peroxisomal biogenesis factor 10), appear benign or pathogenic? If pathogenic, name the associated disease(s).	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']	CGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGG	CGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGN	pathogenic	794
Determine whether the variant at chromosome 1, position 2408689, in gene PEX10 (peroxisomal biogenesis factor 10) is benign or pathogenic. If pathogenic, identify the relevant disease(s).	pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']	GTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGA	GTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCCAGGGGCCCACTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGANNNNNNNN	pathogenic	795
Evaluate the clinical significance of the mutation at chromosome 1, position 2408713 in gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']	TCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATT	TCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTN	pathogenic	797
Considering the variant on chromosome 1, location 2408756, involving gene PEX10 (peroxisomal biogenesis factor 10), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']	CCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCC	CCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCN	pathogenic	800
Is the genetic variant on chromosome 1, position 2410405, gene PEX10 (peroxisomal biogenesis factor 10), benign or pathogenic? If pathogenic, what disease(s) is indicated?	pathogenic; ['Inborn_genetic_diseases', 'Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']	AGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCC	AGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCNN	pathogenic	804
The mutation impacting PEX10 (peroxisomal biogenesis factor 10) on chromosome 1 at position 2412475: benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']	CTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGG	CTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTGGCGGCGCAGGTGCTGGCGGGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTG	pathogenic	807
Gene PEX10 (peroxisomal biogenesis factor 10) variant at chromosome position 2412476 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']	TCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGC	TCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGG	pathogenic	808
Does the variant impacting PEX10 (peroxisomal biogenesis factor 10) on chromosome 1, position 2412476, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']	TCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGC	TCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCN	pathogenic	810
Determine whether the variant at chromosome 1, position 2412494, in gene PEX10 (peroxisomal biogenesis factor 10) is benign or pathogenic. If pathogenic, identify the relevant disease(s).	pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']	TCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTC	TCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCN	pathogenic	811
Regarding the variant found on chromosome 1 at position 2412498 in gene PEX10 (peroxisomal biogenesis factor 10): is it benign or pathogenic? If pathogenic, identify the disease(s).	pathogenic; ['PEX10-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B', 'Zellweger_spectrum_disorders']	ACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCCTAT	ACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCCTATN	pathogenic	813
Evaluate if the mutation on chromosome 1 at position 3396467 in PRDM16 (PR/SET domain 16) is benign or pathogenic. Disease name(s) if pathogenic?	benign	AGAAGCAGGGAGTGCGGGAGGATGCCCGAGGTCTCACGTCAGGACCCTCGACGGGGGTGGGGTGGAGAGGGAGGTGGTGGGTGGGGTGGGTGGTGCGGCCTGGAGTGGAGCCAAGGGGCGGGCGGCCAGGGTCCACATTGCCCTCTAACGGGACCCCTCGAGAAGCCTCAGCCTCGCCCGCTGACCCTCCTCTCTCCTGCCCAGGGCCCGGGCCAGGCCACCTGCCCCACGGGCATCAGCCAGGCCGGGCAGTCACTCAGCAGCCCCTTCCACTTGCGCCTGCTACAATGCCACTCACGGCACCGCTCAGAGGGTCACCCGGGCTTTGTCCCAGCTGGCGCTTCTCATCCCGCACTTTGGGCCCGATTTTCTAATACAGTGGCTCAAGTTTCTTTTTTAAAAAAGAGACAATGATTCAGCCACTGTGTGATTTTTTTTTTTGATAAGATGATACAAAACTGGGGTCCTAATAATAATGGGTTTAATTGAAGAAGTTACCATGGGCCAGTTTCTCCTCTCCACTTTTACATCTCCTCATAATTTTAGCAACTTACCTGACGCCCCATAAGGGAACTTCACACACTACTGACAGAGGCCGTGCACCTGCCTGTCCTCCTTCGTGCAGTTCCTGTCTGGGTGTCTTGGGAGTAGCAGACACTGGGCATTACCGTCACGCTGTGACTTATGTGTGTCTTTTGAGAGTTCCTTGGTGTCATTCTGGAGTCAGTTGGGACTGGCAGATTGTAGTGAAATTCACAATGTGGGGGACATGGGGGAGGAGCATGCAGGGGCCACACCCAGCCCTGTCTCGGGGGTGCCCAGCTGTGTCCAGCCACAGACCCCAGCCAGGTCCAGGTGCTGGAGAGCCTGGCCTGACACAGGATGGTCAGTGGGGATGGGAGTGTCACCCACAAGGATGGCCACGTCCCCTCAATCCCTGGGAGCCCTTCCCTTTCTGAGTCTAGACCCACTCTGTTTTCTTGGAGGAGCCTCAGCCCCAGGTCTCGCAGGGGCAGGTGGATTTCCCTTGGGCCTCTCCCCAGCCTCACAGCCAGTCCTCCGGCCAGGCCTGCAGTTCCCTGGAAGCTCCCCAGTTACTGTGATCAGAAGAGAGTCTCAAACACCCACATGTGCAGGGTGGGCAGTGACTCCCCCAAGAGAAACACACCTGCCGCCAGACACTCCCGGACCGAAGACACAGGGTTCCTTGTGCTGGCGGCATGGCCCGTGCCCTGGCCCAGGCCTCAGATGGCCTGGCCTCCCCTTTGTGAACTGCTAATTTTCTTCATCTCGACCACCACTTCCACACCCCAAGACAACCTCCTCTTTTCAGGAGGCCCCTGGCAAGCTGCAGTGACACAGCCCCCAACAGCACTGCTCAGTGAGCAGAGTTCCAAATGGAGGTCCCCTCGCCCCCAGGGCTTGACCAGGCTGCAGAATCTACCTGAGCCCACCAGTTCTCAAGGGTGTCCTCCATCCCAGACTCCCGCCTGTGGGGTCAGCAGCAAGGCGCCAAGCTGACAGTGGGCACACAGTCCTGCCCGCCCCAGCCTTCCTGGCTCATGGCATCCCCGCTCCTGGGAGAACCGCAGCCCCATGTCCTGACTCACTGGCCAGGCGCAGCTCATGGCCACTTTCAGAAACAACCAGATTCACTCCACACCCTGAGCTCCCCCTCCCCCGCCGCCACTGGCAAAGCGGGTCTCACTTACATACACAAAATGGAACAAAAGAAACTTGAGAACCCACCCAGGTGGGCTCTTGGTGGAAGCGGGGCTCTGCTGTGCCCCCAGGACACCCCCAGCTGGGAACTTTCATGTGGATCCTACCTGTTTAGTCGGCCACCCCCTTTATGAATATCCTAAAACCCAATAAAGCAAATTAAAAGGGGACGCAATTCCTTCTGCGCATACTCTGCAAAAGTTCCATAGTGGACCCTCTTGGTGGCAATTAGAGGAAAATCAAGTGCAGGCCGAGCTGCGTCCACAGTGTGAGGGCTGAGTGTGCACTGAGAGGCTCTCCAGACACCAACAAACCACACTCACCCTTTCTCTCTGGTCTCTCCATCCTAGATTTACTATAAAGTCATTAAGGACATTGAGCCAGGTGAGGAGCTGCTGGTGCACGTGAAGGAAGGCGTCTACCCCCTGGGCACAGTGCCGCCCGGCCTGGACGGTAAGACCCCTCCCCCAAACCGGGCCACGGCCCCTGGGAGCCCCCAGCCAGCCCGGAAGAGGAGCAGATGCCTGGGAGGACCGAGGGCCTCTCATCACCTCAAGCCACCTAATGAGGGCCAGGCGGCCCCCAAGTGCTAGGTGCCTCCATTTTTGCAGACCTCAGGCCAGCAGAAATTGCCCGCCTCCACAAAGGCTCAACCTAATGGCTTTCTTGTTCCTCTTCCCTGGGGCATCCAGGAGGTGCACCCAGAATTTAAGAAGGGCTTCGGGCAGTGGGCAAACTGGTATCCAGTGGATTATGTCTTTGCAATGTTAGGGTCCCAGGTGATTTTTTTAAGCTATGTTTTATTATTGCTATTATTCTTATTAGCAGCAGCAACAGCAGCCTTTGCTTTCCCTGGTACTTAAATGAACGAACAAACAAACACCAAGCCAGTTTTGTAGCTTCGAAGCATTTCTGGCTGCCCCAGAGCTCTCTGTGGGGTGGGAAGATTTTGTTTCATTTAAGAGAGTGGATGATGGCATATGTATCTTTCAAAGCAAAATGTGCATCTGTAGCTAAAACTCCAAGAGAAGTGTTAGGGGAAGTTTCATTTGGCAAGAGGGAAAATGCGGGGTCTGAGGCGGGTCTCACAGTGATGCGGAGTCGCCCCGCTCTTCCAGACAGGGCTGTGGGAAGCCTTCCAAATTTCCTTTTCCCTAGATCTGCCAGTCCCTCTCTGTCGAGTAGAGATGGGACAAGTGAGTTTCCCTTTCACCTTCCTCCACACCCAAGTACAGCTGAGAGGATGCCTGAGAAAATTCCAGTCCCACACAGATGAGCTCTTCCCAGATACAGGCTCATTCCTGCCTTCACGTCATGAAGCCATGTGTCCGTTCCCCTACGGGGTCCTGGAACAGCCGGCCAGGAAAGGCTCTGTGGGCAGTGAGGCCCTGGCCCGTCGGCTCCACGCCGGTCCCTCTGAGCAGACGGCTCCAGGGTTCGAGCCTAACTGCTTTACTTTGGGAGGCCCCGCAAGTGAACAGGAACGCAAGCTCCCTCCTGGCCGTTTCCGGCGCTGGTGATTCCTGCTGGTGCTGGAGCCTGGAGGGAGGCTGAGTTTTCCTCCTCGCTTCTTGGACCTCCCCTTCAAACACACCAAGGCTTAGTGATTAATGCCATTTGCTGCAAGTTTCTCCAAGGAACCACTCTGATTTCACGGTGAAGGAATGGTGCTGGAATGAGCAGGAAGGCTTCGAGACCAGACATGGAGAACTCCGCCTTCATTTACCCTTGCCATCACCGAGCGTGGCCCAGCTAGCTGGGTCCTTCCTTGGTGCAGTATCTGTTTATGTCCCTGAGTGTCCGAAAGGAAATGACCACAGAAGGATAGTTTAACAAGCTGGAGCCTATCTGCAGCTTCCTCTAAAGTTTGGTTTTATTTAGGCCATTGAGAAAAGAAAAATCAATTGCCGAGATCTGGATAGCAGGGGGGAGGGCCTCATTTTCCTTAAAATAATTGTTGAAAAGATCTATGAATCTTAGACAGCGCACAAGAACGCCAAGAGACAAATCTACTTGACTTAAGGAGAGTGCTTGACTATGGAATTTCATTTGTACGATGAAATTTCTTTCTTCCAAAAGGTTTTTTAAAAACCTTGATTTCTGCTCCCCACCCCGCTCCAGCCCCTGATATTAAATAACCTGGGTCTACATTTTCCTAATAATTTATCAAACATTTGTGGGCTAATTGCTTGCCACACATAATAGCCCAACATCAAATATTTGACTTTCCCTACTCTTTCCTGTCAAGATCATGCCTCCCCAATAGCCGCCTCCCCCACCAGTTAAACTCTGAATCGCACAGAAAGAAAATGCAAAAATGTTCCTCACTAAGATAATTATCATAAAAAATCTTTTATCCCAACCCCAGCTCAAT	AGAAGCAGGGAGTGCGGGAGGATGCCCGAGGTCTCACGTCAGGACCCTCGACGGGGGTGGGGTGGAGAGGGAGGTGGTGGGTGGGGTGGGTGGTGCGGCCTGGAGTGGAGCCAAGGGGCGGGCGGCCAGGGTCCACATTGCCCTCTAACGGGACCCCTCGAGAAGCCTCAGCCTCGCCCGCTGACCCTCCTCTCTCCTGCCCAGGGCCCGGGCCAGGCCACCTGCCCCACGGGCATCAGCCAGGCCGGGCAGTCACTCAGCAGCCCCTTCCACTTGCGCCTGCTACAATGCCACTCACGGCACCGCTCAGAGGGTCACCCGGGCTTTGTCCCAGCTGGCGCTTCTCATCCCGCACTTTGGGCCCGATTTTCTAATACAGTGGCTCAAGTTTCTTTTTTAAAAAAGAGACAATGATTCAGCCACTGTGTGATTTTTTTTTTTGATAAGATGATACAAAACTGGGGTCCTAATAATAATGGGTTTAATTGAAGAAGTTACCATGGGCCAGTTTCTCCTCTCCACTTTTACATCTCCTCATAATTTTAGCAACTTACCTGACGCCCCATAAGGGAACTTCACACACTACTGACAGAGGCCGTGCACCTGCCTGTCCTCCTTCGTGCAGTTCCTGTCTGGGTGTCTTGGGAGTAGCAGACACTGGGCATTACCGTCACGCTGTGACTTATGTGTGTCTTTTGAGAGTTCCTTGGTGTCATTCTGGAGTCAGTTGGGACTGGCAGATTGTAGTGAAATTCACAATGTGGGGGACATGGGGGAGGAGCATGCAGGGGCCACACCCAGCCCTGTCTCGGGGGTGCCCAGCTGTGTCCAGCCACAGACCCCAGCCAGGTCCAGGTGCTGGAGAGCCTGGCCTGACACAGGATGGTCAGTGGGGATGGGAGTGTCACCCACAAGGATGGCCACGTCCCCTCAATCCCTGGGAGCCCTTCCCTTTCTGAGTCTAGACCCACTCTGTTTTCTTGGAGGAGCCTCAGCCCCAGGTCTCGCAGGGGCAGGTGGATTTCCCTTGGGCCTCTCCCCAGCCTCACAGCCAGTCCTCCGGCCAGGCCTGCAGTTCCCTGGAAGCTCCCCAGTTACTGTGATCAGAAGAGAGTCTCAAACACCCACATGTGCAGGGTGGGCAGTGACTCCCCCAAGAGAAACACACCTGCCGCCAGACACTCCCGGACCGAAGACACAGGGTTCCTTGTGCTGGCGGCATGGCCCGTGCCCTGGCCCAGGCCTCAGATGGCCTGGCCTCCCCTTTGTGAACTGCTAATTTTCTTCATCTCGACCACCACTTCCACACCCCAAGACAACCTCCTCTTTTCAGGAGGCCCCTGGCAAGCTGCAGTGACACAGCCCCCAACAGCACTGCTCAGTGAGCAGAGTTCCAAATGGAGGTCCCCTCGCCCCCAGGGCTTGACCAGGCTGCAGAATCTACCTGAGCCCACCAGTTCTCAAGGGTGTCCTCCATCCCAGACTCCCGCCTGTGGGGTCAGCAGCAAGGCGCCAAGCTGACAGTGGGCACACAGTCCTGCCCGCCCCAGCCTTCCTGGCTCATGGCATCCCCGCTCCTGGGAGAACCGCAGCCCCATGTCCTGACTCACTGGCCAGGCGCAGCTCATGGCCACTTTCAGAAACAACCAGATTCACTCCACACCCTGAGCTCCCCCTCCCCCGCCGCCACTGGCAAAGCGGGTCTCACTTACATACACAAAATGGAACAAAAGAAACTTGAGAACCCACCCAGGTGGGCTCTTGGTGGAAGCGGGGCTCTGCTGTGCCCCCAGGACACCCCCAGCTGGGAACTTTCATGTGGATCCTACCTGTTTAGTCGGCCACCCCCTTTATGAATATCCTAAAACCCAATAAAGCAAATTAAAAGGGGACGCAATTCCTTCTGCGCATACTCTGCAAAAGTTCCATAGTGGACCCTCTTGGTGGCAATTAGAGGAAAATCAAGTGCAGGCCGAGCTGCGTCCACAGTGTGAGGGCTGAGTGTGCACTGAGAGGCTCTCCAGACACCAACAAACCACACTCACCCTTTCTGGTCTCTCCATCCTAGATTTACTATAAAGTCATTAAGGACATTGAGCCAGGTGAGGAGCTGCTGGTGCACGTGAAGGAAGGCGTCTACCCCCTGGGCACAGTGCCGCCCGGCCTGGACGGTAAGACCCCTCCCCCAAACCGGGCCACGGCCCCTGGGAGCCCCCAGCCAGCCCGGAAGAGGAGCAGATGCCTGGGAGGACCGAGGGCCTCTCATCACCTCAAGCCACCTAATGAGGGCCAGGCGGCCCCCAAGTGCTAGGTGCCTCCATTTTTGCAGACCTCAGGCCAGCAGAAATTGCCCGCCTCCACAAAGGCTCAACCTAATGGCTTTCTTGTTCCTCTTCCCTGGGGCATCCAGGAGGTGCACCCAGAATTTAAGAAGGGCTTCGGGCAGTGGGCAAACTGGTATCCAGTGGATTATGTCTTTGCAATGTTAGGGTCCCAGGTGATTTTTTTAAGCTATGTTTTATTATTGCTATTATTCTTATTAGCAGCAGCAACAGCAGCCTTTGCTTTCCCTGGTACTTAAATGAACGAACAAACAAACACCAAGCCAGTTTTGTAGCTTCGAAGCATTTCTGGCTGCCCCAGAGCTCTCTGTGGGGTGGGAAGATTTTGTTTCATTTAAGAGAGTGGATGATGGCATATGTATCTTTCAAAGCAAAATGTGCATCTGTAGCTAAAACTCCAAGAGAAGTGTTAGGGGAAGTTTCATTTGGCAAGAGGGAAAATGCGGGGTCTGAGGCGGGTCTCACAGTGATGCGGAGTCGCCCCGCTCTTCCAGACAGGGCTGTGGGAAGCCTTCCAAATTTCCTTTTCCCTAGATCTGCCAGTCCCTCTCTGTCGAGTAGAGATGGGACAAGTGAGTTTCCCTTTCACCTTCCTCCACACCCAAGTACAGCTGAGAGGATGCCTGAGAAAATTCCAGTCCCACACAGATGAGCTCTTCCCAGATACAGGCTCATTCCTGCCTTCACGTCATGAAGCCATGTGTCCGTTCCCCTACGGGGTCCTGGAACAGCCGGCCAGGAAAGGCTCTGTGGGCAGTGAGGCCCTGGCCCGTCGGCTCCACGCCGGTCCCTCTGAGCAGACGGCTCCAGGGTTCGAGCCTAACTGCTTTACTTTGGGAGGCCCCGCAAGTGAACAGGAACGCAAGCTCCCTCCTGGCCGTTTCCGGCGCTGGTGATTCCTGCTGGTGCTGGAGCCTGGAGGGAGGCTGAGTTTTCCTCCTCGCTTCTTGGACCTCCCCTTCAAACACACCAAGGCTTAGTGATTAATGCCATTTGCTGCAAGTTTCTCCAAGGAACCACTCTGATTTCACGGTGAAGGAATGGTGCTGGAATGAGCAGGAAGGCTTCGAGACCAGACATGGAGAACTCCGCCTTCATTTACCCTTGCCATCACCGAGCGTGGCCCAGCTAGCTGGGTCCTTCCTTGGTGCAGTATCTGTTTATGTCCCTGAGTGTCCGAAAGGAAATGACCACAGAAGGATAGTTTAACAAGCTGGAGCCTATCTGCAGCTTCCTCTAAAGTTTGGTTTTATTTAGGCCATTGAGAAAAGAAAAATCAATTGCCGAGATCTGGATAGCAGGGGGGAGGGCCTCATTTTCCTTAAAATAATTGTTGAAAAGATCTATGAATCTTAGACAGCGCACAAGAACGCCAAGAGACAAATCTACTTGACTTAAGGAGAGTGCTTGACTATGGAATTTCATTTGTACGATGAAATTTCTTTCTTCCAAAAGGTTTTTTAAAAACCTTGATTTCTGCTCCCCACCCCGCTCCAGCCCCTGATATTAAATAACCTGGGTCTACATTTTCCTAATAATTTATCAAACATTTGTGGGCTAATTGCTTGCCACACATAATAGCCCAACATCAAATATTTGACTTTCCCTACTCTTTCCTGTCAAGATCATGCCTCCCCAATAGCCGCCTCCCCCACCAGTTAAACTCTGAATCGCACAGAAAGAAAATGCAAAAATGTTCCTCACTAAGATAATTATCATAAAAAATCTTTTATCCCAACCCCAGCTCAATNNNN	benign	873
Regarding the variant at chromosome 1 and position 3402771, affecting gene PRDM16 (PR/SET domain 16): benign or pathogenic? If pathogenic, what are the associated illness(es)?	benign	AACCAGTGCTTTCCTGAGGTTCAGGTCAGTGAGCAGGGCCAGGATGCCTGGACACCGGCTGAGAACGAAATCACAGTGTTTGGTGCATCTTGACCAGCAGTGGTGCCTGCCCACTCACCCCCAATGCACACACCCCTGGGGCTCCTCTCGGCCAGACACCCCTTCCCTGTCAGCCAGATACTTACCTCTGTCCAAAGACGGCACCAAAAATCACATCTGGCAAGCTGGCATCTGTACCTTGGTTGGCAAGGGGTGGGTGGGTGCGTGCCATCCAGTATGCCTGCTGTGGTCTCTTGGGGCCAGCACCCTGCTGGAATCCCCACCTTGGGCACCTGAGGCTCAGGGAGCCAGGCTCTGAGGACCCGCCAGGGGTGCTGGGGTGGCCCAGGCCAAATAGCAGCATCTCTACCCTTAGGCTCAGGGAAGCTTCCAGTCAGCAAGGAGGTGCCACTTCTGGTAACCCCTGCACTGCCCAGACTGCAAAGCAGCCCACACTTTCCTTAGGACTCTAAAAGGCCTATGACCGTGGTGGTCTCTCTGACACAGGGAGGGGACAGGAAGTGACAGCCCTCTTCCATCTGCCCCCATCCCCCCGTCTCCGCGGCAATCCTTAGGTTCAGGCCTTTGAGTCAACGTTCAGACCAAGCTCATGAAGACTCTGCTCAATGCTGGGCACTGGGTCAGTCCTCGTGCACGTGCATACACACCCAAACACACATTCCCACAAGCACCCAAATGCACACACACAAATTGCATGCATACACACATCACATGCACACAAACACAAACATGCACGTTAGCATACACACATTCATATACAAGCATGTGTACACATATTCATGCCTGCACAACTACACACCCATTGGCGCACACACACACAAACCAACACACAATGTGCGTGTTCACACACATATTCACATGCACATGTGTGCACATCAAACACATATGCACACACAACATAGCCACCCATGCGCACGAACATATATGTATAATATGCACGTATGCATACATAACACAAATGCACACACATGCAGACAGAAACACGTGCATTCACACATGCAAAGTATGCACCCACATGAACACACAGATGCACACATGCCTCAACACAAAGGCATCCACAAACCACACATGTGCAAGTATGAAAACACACCAGTGCACACAAATATTCACGCATGTAGGTGCATGCAGAAACACATGCATCCTCACACACATGCACATGAGTACCCATGCAGGCCCACACAAACATGGGTGTAAGTGCATAGACATGCACACACAGTCACACAAAAATGCACAGACATGGATGCAGATATGCTGAGATATTCACACTTACGTGTGCATACACAGCTGCCTGCTCATGCCCAAGACGCCCCCGTGCACTCACACACTGGTGCACACACCATTGTTCAATTCATTTGGGAAAGAGCTCAGTGCCAGCGTTCTTTCCAGAGCCGGGGGGATGAGGCATCTTGTTGGGGGGGTCTCCCGTCTTAGGTGGAAGGCTGCTGCCCAGCTGCTACAGGCAGGGGAGGCAGGGACGGGCCCAGAGCCCCCCACCGGGATGACAGCTCCAGGCTGATTGTTTGGCTTGGCAAGGCAGTCAGGATGCTGCCTCGTAAACTTAATAATAGCTGCCCCCCTTTTAATTTGTTTGACCTTGACGACAATAATTTATTATATGCACTGGAGCTCTGTCATCGTTTTTCTCCTGATTCATAAACAAAGCACTTGGCCCGGCTTCCTCCTCCACTCCCGAGCGGGGCCTTCTCCAGCCCACAGTGGCTGCCTGAGGCACAGGCAGGGCCGGGTGTCGCCCGGGGCTCCCTCTGAGGCACAGATTGGGGGGTCCTTTGGTCCTGCCCAGGGCTGGGCCCTGGGGACTCCACATGCCTGTTTCCAGGGCAGGCTGGTGGGCCCCAAGTTGAAGGCTGGAAGGAAGCAGTGCAGGACTGGCCAGCCTGGGTGCAGGCCCTGAGGCACCGTGGTGAGGGGGCCAGGTCTCCAGAGTCCCCTGATAGCCCTGGGCTGGGTCTCCAGCTCACTCACCACCACCTCGTTCTCTCTCTTGCAGAGGAGCCCACGTTCCGCTGTGACGAGTGTGACGAACTCTTCCAGTCCAAGCTGGACCTGCGGCGCCATAAGAAGTACACGTGTGGCTCAGTGGGGGCTGCGCTCTACGAGGGCCTGGCTGAGGAGCTCAAGCCCGAGGGCCTTGGCGGTGGCAGCGGCCAAGCCCACGAGTGCAAGGACTGCGAGCGGATGTTCCCCAACAAGTACAGGTGCCACGCCCTCCTCTGAGTCTTCCTCCCCTTCCCGTACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTGCCCTCCTCTGAGTCTTCCTCCCCTCCCTTCCCCCGCCTCGCCCCCCAACAGGTGTAGACAAAGGGCCCCCTGGTGGGACACACCCTGGGGATATGTGCCCCTTCTGGGACACTGGCGCTGCGGGCAGAGCAGGTGCAGGATCCCGTGGCCAGAGCCGCAGGTGTCCCCTGGCTCCGACCGCAAATGTCCTGGCCCCAGAAAGCCACCTCCTAGGCTCATGGCCCTGCCTGCCAGGGCTGCGCTGCGGGGAGAAACTAGAAAGGAGAAAAACTCAGGCCAGAGCCCAGACCTGCAGCCGCTAAGCCCAAGGCTACTTCTGTAATAAGGTCCCAGACCGGGATGGGGGTGGCAGCACCCACCACCAAGGGATTCATGGTGGCCCCACCCTCCGGACACACGAGCAGCTCCTTCTCAGATGGTAGGCAAGAGCCAGAAGGGGTCACCCCTATCCCCAAGGCACCAGCCCTGCTCCCCACCAGGTGGCAGCGGACTGTCCCAGGAGGGGCTTCAGAGACATGAGCGGGCCCACGGTGGCCCTCCCCTGCCCTGAGACCAGGCAGGAGCCAGCATCTGGGGCCTGGGCGGCCTTGGGGACCTGTGGCCCCCGGGAAAGACAAGATTCCTGGTCTCTGTGGGGAGTGAAACCAGGACATTCAGTCCAGTGCTGTAAGGAGCTATGGAGACTTTTCCAACCTGGGCCCCTCCTCCTGCCTTTGAGGATTTCCTCCAGGACAGCCTCGCAAAGTCAGAGCAAAGCCCATCAGGCCACTAACCGGCTATGTGATTGCTGGGGATTACCGCCCATCCCCGCACCGCTCCCTGGGGACGGCAAACCCTCCACCCGGAACAGATGACTGAGAAAATAAACGTTTGGGCAAATCCCAACTGCGGCCCTTCCCAGTAAACGCCGCTCAAGAGGGTCCGTGTTTTCTTTACATAAACACATAAATCACAATTAACAACGGGGGAAAAGATACAGTCTCCTGATGCTCGGGAACCAGGCGTTTCTGATCTGAATGGATGGCTGGGCCCCGTAATTAACGAGCCGTGATATATCACTGCTTTGCTCATGAAGATTAACGGTCATCCCTGGGACAAGGGAAGCCGGGGGTCCCCCAAGAGCAGGGAATTAGAGCGACTCCTTCATCCAAGTGCAGCGGCCCCTCCGAGCAGCTGTGCTCGGGTCCCCTCCGTGTCACCTGGAGACCCCCGAGTGACTCCCGACCTGCGTCCTCGGTGTGTGCCCAGCACTCAGAGGGGCATCCTTGGGTTTGGGGGACTTGCCCCACTCCTGGGTTCATGCCAGTGTTGAACCCCTTTTTTCTTAGGCCCAAGCCTAGCTGCAAGGCCAGGACCAGCTTGAGAGGCACCCAGGGAGTGTGGGCCGGGGTCCGGCACTGCCTCCAGCCGCCCTGGGGGTGGTCTTGGGTGAGGGATGGAACCATCCAGGTGCCGGCTTCCCCATCTGCTAGGGGAAGGCCGCCTCTGCCCCTCACAGCCCGGCCACGGCAGAGAGGAGGTGGGCAGGGAGACACCAGCATGTGCTCTGATCCCTCGGCAGCGTGGTGGGGGCTCCGAAGGGGCACTGGGAACAAGCTGTATGGTTGGGGTCCCCTCCCGGGCAGAGGGCAGGTAGTCGGGCCCCGCAGTGAGCCTCGTCCTCTGCGCAGCCTGGAGCAGCACATGGTCATCCACACGGAGGAGCGCGAGTACAAATGCGACCAGTGTCCCAAGGCCTTCAACTGGAAGT	AACCAGTGCTTTCCTGAGGTTCAGGTCAGTGAGCAGGGCCAGGATGCCTGGACACCGGCTGAGAACGAAATCACAGTGTTTGGTGCATCTTGACCAGCAGTGGTGCCTGCCCACTCACCCCCAATGCACACACCCCTGGGGCTCCTCTCGGCCAGACACCCCTTCCCTGTCAGCCAGATACTTACCTCTGTCCAAAGACGGCACCAAAAATCACATCTGGCAAGCTGGCATCTGTACCTTGGTTGGCAAGGGGTGGGTGGGTGCGTGCCATCCAGTATGCCTGCTGTGGTCTCTTGGGGCCAGCACCCTGCTGGAATCCCCACCTTGGGCACCTGAGGCTCAGGGAGCCAGGCTCTGAGGACCCGCCAGGGGTGCTGGGGTGGCCCAGGCCAAATAGCAGCATCTCTACCCTTAGGCTCAGGGAAGCTTCCAGTCAGCAAGGAGGTGCCACTTCTGGTAACCCCTGCACTGCCCAGACTGCAAAGCAGCCCACACTTTCCTTAGGACTCTAAAAGGCCTATGACCGTGGTGGTCTCTCTGACACAGGGAGGGGACAGGAAGTGACAGCCCTCTTCCATCTGCCCCCATCCCCCCGTCTCCGCGGCAATCCTTAGGTTCAGGCCTTTGAGTCAACGTTCAGACCAAGCTCATGAAGACTCTGCTCAATGCTGGGCACTGGGTCAGTCCTCGTGCACGTGCATACACACCCAAACACACATTCCCACAAGCACCCAAATGCACACACACAAATTGCATGCATACACACATCACATGCACACAAACACAAACATGCACGTTAGCATACACACATTCATATACAAGCATGTGTACACATATTCATGCCTGCACAACTACACACCCATTGGCGCACACACACACAAACCAACACACAATGTGCGTGTTCACACACATATTCACATGCACATGTGTGCACATCAAACACATATGCACACACAACATAGCCACCCATGCGCACGAACATATATGTATAATATGCACGTATGCATACATAACACAAATGCACACACATGCAGACAGAAACACGTGCATTCACACATGCAAAGTATGCACCCACATGAACACACAGATGCACACATGCCTCAACACAAAGGCATCCACAAACCACACATGTGCAAGTATGAAAACACACCAGTGCACACAAATATTCACGCATGTAGGTGCATGCAGAAACACATGCATCCTCACACACATGCACATGAGTACCCATGCAGGCCCACACAAACATGGGTGTAAGTGCATAGACATGCACACACAGTCACACAAAAATGCACAGACATGGATGCAGATATGCTGAGATATTCACACTTACGTGTGCATACACAGCTGCCTGCTCATGCCCAAGACGCCCCCGTGCACTCACACACTGGTGCACACACCATTGTTCAATTCATTTGGGAAAGAGCTCAGTGCCAGCGTTCTTTCCAGAGCCGGGGGGATGAGGCATCTTGTTGGGGGGGTCTCCCGTCTTAGGTGGAAGGCTGCTGCCCAGCTGCTACAGGCAGGGGAGGCAGGGACGGGCCCAGAGCCCCCCACCGGGATGACAGCTCCAGGCTGATTGTTTGGCTTGGCAAGGCAGTCAGGATGCTGCCTCGTAAACTTAATAATAGCTGCCCCCCTTTTAATTTGTTTGACCTTGACGACAATAATTTATTATATGCACTGGAGCTCTGTCATCGTTTTTCTCCTGATTCATAAACAAAGCACTTGGCCCGGCTTCCTCCTCCACTCCCGAGCGGGGCCTTCTCCAGCCCACAGTGGCTGCCTGAGGCACAGGCAGGGCCGGGTGTCGCCCGGGGCTCCCTCTGAGGCACAGATTGGGGGGTCCTTTGGTCCTGCCCAGGGCTGGGCCCTGGGGACTCCACATGCCTGTTTCCAGGGCAGGCTGGTGGGCCCCAAGTTGAAGGCTGGAAGGAAGCAGTGCAGGACTGGCCAGCCTGGGTGCAGGCCCTGAGGCACCGTGGTGAGGGGGCCAGGTCTCCAGAGTCCCCTGATAGCCCTGGGCTGGGTCTCCAGCTCACTCACCACCACCTCGTTCTCGTTCTCTCTCTTGCAGAGGAGCCCACGTTCCGCTGTGACGAGTGTGACGAACTCTTCCAGTCCAAGCTGGACCTGCGGCGCCATAAGAAGTACACGTGTGGCTCAGTGGGGGCTGCGCTCTACGAGGGCCTGGCTGAGGAGCTCAAGCCCGAGGGCCTTGGCGGTGGCAGCGGCCAAGCCCACGAGTGCAAGGACTGCGAGCGGATGTTCCCCAACAAGTACAGGTGCCACGCCCTCCTCTGAGTCTTCCTCCCCTTCCCGTACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTGCCCTCCTCTGAGTCTTCCTCCCCTCCCTTCCCCCGCCTCGCCCCCCAACAGGTGTAGACAAAGGGCCCCCTGGTGGGACACACCCTGGGGATATGTGCCCCTTCTGGGACACTGGCGCTGCGGGCAGAGCAGGTGCAGGATCCCGTGGCCAGAGCCGCAGGTGTCCCCTGGCTCCGACCGCAAATGTCCTGGCCCCAGAAAGCCACCTCCTAGGCTCATGGCCCTGCCTGCCAGGGCTGCGCTGCGGGGAGAAACTAGAAAGGAGAAAAACTCAGGCCAGAGCCCAGACCTGCAGCCGCTAAGCCCAAGGCTACTTCTGTAATAAGGTCCCAGACCGGGATGGGGGTGGCAGCACCCACCACCAAGGGATTCATGGTGGCCCCACCCTCCGGACACACGAGCAGCTCCTTCTCAGATGGTAGGCAAGAGCCAGAAGGGGTCACCCCTATCCCCAAGGCACCAGCCCTGCTCCCCACCAGGTGGCAGCGGACTGTCCCAGGAGGGGCTTCAGAGACATGAGCGGGCCCACGGTGGCCCTCCCCTGCCCTGAGACCAGGCAGGAGCCAGCATCTGGGGCCTGGGCGGCCTTGGGGACCTGTGGCCCCCGGGAAAGACAAGATTCCTGGTCTCTGTGGGGAGTGAAACCAGGACATTCAGTCCAGTGCTGTAAGGAGCTATGGAGACTTTTCCAACCTGGGCCCCTCCTCCTGCCTTTGAGGATTTCCTCCAGGACAGCCTCGCAAAGTCAGAGCAAAGCCCATCAGGCCACTAACCGGCTATGTGATTGCTGGGGATTACCGCCCATCCCCGCACCGCTCCCTGGGGACGGCAAACCCTCCACCCGGAACAGATGACTGAGAAAATAAACGTTTGGGCAAATCCCAACTGCGGCCCTTCCCAGTAAACGCCGCTCAAGAGGGTCCGTGTTTTCTTTACATAAACACATAAATCACAATTAACAACGGGGGAAAAGATACAGTCTCCTGATGCTCGGGAACCAGGCGTTTCTGATCTGAATGGATGGCTGGGCCCCGTAATTAACGAGCCGTGATATATCACTGCTTTGCTCATGAAGATTAACGGTCATCCCTGGGACAAGGGAAGCCGGGGGTCCCCCAAGAGCAGGGAATTAGAGCGACTCCTTCATCCAAGTGCAGCGGCCCCTCCGAGCAGCTGTGCTCGGGTCCCCTCCGTGTCACCTGGAGACCCCCGAGTGACTCCCGACCTGCGTCCTCGGTGTGTGCCCAGCACTCAGAGGGGCATCCTTGGGTTTGGGGGACTTGCCCCACTCCTGGGTTCATGCCAGTGTTGAACCCCTTTTTTCTTAGGCCCAAGCCTAGCTGCAAGGCCAGGACCAGCTTGAGAGGCACCCAGGGAGTGTGGGCCGGGGTCCGGCACTGCCTCCAGCCGCCCTGGGGGTGGTCTTGGGTGAGGGATGGAACCATCCAGGTGCCGGCTTCCCCATCTGCTAGGGGAAGGCCGCCTCTGCCCCTCACAGCCCGGCCACGGCAGAGAGGAGGTGGGCAGGGAGACACCAGCATGTGCTCTGATCCCTCGGCAGCGTGGTGGGGGCTCCGAAGGGGCACTGGGAACAAGCTGTATGGTTGGGGTCCCCTCCCGGGCAGAGGGCAGGTAGTCGGGCCCCGCAGTGAGCCTCGTCCTCTGCGCAGCCTGGAGCAGCACATGGTCATCCACACGGAGGAGCGCGAGTACAAATGCGACCAGTGTCCCAAGGCCTTCAACT	benign	879
Classify the chromosome 1 variant at position 3403006 affecting gene PRDM16 (PR/SET domain 16) as benign or pathogenic. If pathogenic, which disease(s) is associated?	benign	ACCTTGGTTGGCAAGGGGTGGGTGGGTGCGTGCCATCCAGTATGCCTGCTGTGGTCTCTTGGGGCCAGCACCCTGCTGGAATCCCCACCTTGGGCACCTGAGGCTCAGGGAGCCAGGCTCTGAGGACCCGCCAGGGGTGCTGGGGTGGCCCAGGCCAAATAGCAGCATCTCTACCCTTAGGCTCAGGGAAGCTTCCAGTCAGCAAGGAGGTGCCACTTCTGGTAACCCCTGCACTGCCCAGACTGCAAAGCAGCCCACACTTTCCTTAGGACTCTAAAAGGCCTATGACCGTGGTGGTCTCTCTGACACAGGGAGGGGACAGGAAGTGACAGCCCTCTTCCATCTGCCCCCATCCCCCCGTCTCCGCGGCAATCCTTAGGTTCAGGCCTTTGAGTCAACGTTCAGACCAAGCTCATGAAGACTCTGCTCAATGCTGGGCACTGGGTCAGTCCTCGTGCACGTGCATACACACCCAAACACACATTCCCACAAGCACCCAAATGCACACACACAAATTGCATGCATACACACATCACATGCACACAAACACAAACATGCACGTTAGCATACACACATTCATATACAAGCATGTGTACACATATTCATGCCTGCACAACTACACACCCATTGGCGCACACACACACAAACCAACACACAATGTGCGTGTTCACACACATATTCACATGCACATGTGTGCACATCAAACACATATGCACACACAACATAGCCACCCATGCGCACGAACATATATGTATAATATGCACGTATGCATACATAACACAAATGCACACACATGCAGACAGAAACACGTGCATTCACACATGCAAAGTATGCACCCACATGAACACACAGATGCACACATGCCTCAACACAAAGGCATCCACAAACCACACATGTGCAAGTATGAAAACACACCAGTGCACACAAATATTCACGCATGTAGGTGCATGCAGAAACACATGCATCCTCACACACATGCACATGAGTACCCATGCAGGCCCACACAAACATGGGTGTAAGTGCATAGACATGCACACACAGTCACACAAAAATGCACAGACATGGATGCAGATATGCTGAGATATTCACACTTACGTGTGCATACACAGCTGCCTGCTCATGCCCAAGACGCCCCCGTGCACTCACACACTGGTGCACACACCATTGTTCAATTCATTTGGGAAAGAGCTCAGTGCCAGCGTTCTTTCCAGAGCCGGGGGGATGAGGCATCTTGTTGGGGGGGTCTCCCGTCTTAGGTGGAAGGCTGCTGCCCAGCTGCTACAGGCAGGGGAGGCAGGGACGGGCCCAGAGCCCCCCACCGGGATGACAGCTCCAGGCTGATTGTTTGGCTTGGCAAGGCAGTCAGGATGCTGCCTCGTAAACTTAATAATAGCTGCCCCCCTTTTAATTTGTTTGACCTTGACGACAATAATTTATTATATGCACTGGAGCTCTGTCATCGTTTTTCTCCTGATTCATAAACAAAGCACTTGGCCCGGCTTCCTCCTCCACTCCCGAGCGGGGCCTTCTCCAGCCCACAGTGGCTGCCTGAGGCACAGGCAGGGCCGGGTGTCGCCCGGGGCTCCCTCTGAGGCACAGATTGGGGGGTCCTTTGGTCCTGCCCAGGGCTGGGCCCTGGGGACTCCACATGCCTGTTTCCAGGGCAGGCTGGTGGGCCCCAAGTTGAAGGCTGGAAGGAAGCAGTGCAGGACTGGCCAGCCTGGGTGCAGGCCCTGAGGCACCGTGGTGAGGGGGCCAGGTCTCCAGAGTCCCCTGATAGCCCTGGGCTGGGTCTCCAGCTCACTCACCACCACCTCGTTCTCTCTCTTGCAGAGGAGCCCACGTTCCGCTGTGACGAGTGTGACGAACTCTTCCAGTCCAAGCTGGACCTGCGGCGCCATAAGAAGTACACGTGTGGCTCAGTGGGGGCTGCGCTCTACGAGGGCCTGGCTGAGGAGCTCAAGCCCGAGGGCCTTGGCGGTGGCAGCGGCCAAGCCCACGAGTGCAAGGACTGCGAGCGGATGTTCCCCAACAAGTACAGGTGCCACGCCCTCCTCTGAGTCTTCCTCCCCTTCCCGTACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTGCCCTCCTCTGAGTCTTCCTCCCCTCCCTTCCCCCGCCTCGCCCCCCAACAGGTGTAGACAAAGGGCCCCCTGGTGGGACACACCCTGGGGATATGTGCCCCTTCTGGGACACTGGCGCTGCGGGCAGAGCAGGTGCAGGATCCCGTGGCCAGAGCCGCAGGTGTCCCCTGGCTCCGACCGCAAATGTCCTGGCCCCAGAAAGCCACCTCCTAGGCTCATGGCCCTGCCTGCCAGGGCTGCGCTGCGGGGAGAAACTAGAAAGGAGAAAAACTCAGGCCAGAGCCCAGACCTGCAGCCGCTAAGCCCAAGGCTACTTCTGTAATAAGGTCCCAGACCGGGATGGGGGTGGCAGCACCCACCACCAAGGGATTCATGGTGGCCCCACCCTCCGGACACACGAGCAGCTCCTTCTCAGATGGTAGGCAAGAGCCAGAAGGGGTCACCCCTATCCCCAAGGCACCAGCCCTGCTCCCCACCAGGTGGCAGCGGACTGTCCCAGGAGGGGCTTCAGAGACATGAGCGGGCCCACGGTGGCCCTCCCCTGCCCTGAGACCAGGCAGGAGCCAGCATCTGGGGCCTGGGCGGCCTTGGGGACCTGTGGCCCCCGGGAAAGACAAGATTCCTGGTCTCTGTGGGGAGTGAAACCAGGACATTCAGTCCAGTGCTGTAAGGAGCTATGGAGACTTTTCCAACCTGGGCCCCTCCTCCTGCCTTTGAGGATTTCCTCCAGGACAGCCTCGCAAAGTCAGAGCAAAGCCCATCAGGCCACTAACCGGCTATGTGATTGCTGGGGATTACCGCCCATCCCCGCACCGCTCCCTGGGGACGGCAAACCCTCCACCCGGAACAGATGACTGAGAAAATAAACGTTTGGGCAAATCCCAACTGCGGCCCTTCCCAGTAAACGCCGCTCAAGAGGGTCCGTGTTTTCTTTACATAAACACATAAATCACAATTAACAACGGGGGAAAAGATACAGTCTCCTGATGCTCGGGAACCAGGCGTTTCTGATCTGAATGGATGGCTGGGCCCCGTAATTAACGAGCCGTGATATATCACTGCTTTGCTCATGAAGATTAACGGTCATCCCTGGGACAAGGGAAGCCGGGGGTCCCCCAAGAGCAGGGAATTAGAGCGACTCCTTCATCCAAGTGCAGCGGCCCCTCCGAGCAGCTGTGCTCGGGTCCCCTCCGTGTCACCTGGAGACCCCCGAGTGACTCCCGACCTGCGTCCTCGGTGTGTGCCCAGCACTCAGAGGGGCATCCTTGGGTTTGGGGGACTTGCCCCACTCCTGGGTTCATGCCAGTGTTGAACCCCTTTTTTCTTAGGCCCAAGCCTAGCTGCAAGGCCAGGACCAGCTTGAGAGGCACCCAGGGAGTGTGGGCCGGGGTCCGGCACTGCCTCCAGCCGCCCTGGGGGTGGTCTTGGGTGAGGGATGGAACCATCCAGGTGCCGGCTTCCCCATCTGCTAGGGGAAGGCCGCCTCTGCCCCTCACAGCCCGGCCACGGCAGAGAGGAGGTGGGCAGGGAGACACCAGCATGTGCTCTGATCCCTCGGCAGCGTGGTGGGGGCTCCGAAGGGGCACTGGGAACAAGCTGTATGGTTGGGGTCCCCTCCCGGGCAGAGGGCAGGTAGTCGGGCCCCGCAGTGAGCCTCGTCCTCTGCGCAGCCTGGAGCAGCACATGGTCATCCACACGGAGGAGCGCGAGTACAAATGCGACCAGTGTCCCAAGGCCTTCAACTGGAAGTCCAACCTCATCCGCCACCAGATGTCCCACGACAGCGGCAAACGCTTCGAATGTGAAAACTGCGTGAAGGTAACCTGCGGGGCGGCCCCGTCTCAGCCCCGGGGCAGCAGGAGGCTGCAGACGGGCGCCCGCCCCCGTGCTCCCTACACCCCCTGGTCCAAATGTAGATGGAGTGCGGCAGAGTGGGTAGGAGGCCCCTGCGGTGGCTCGGGCCCTTCCGTGTGACTAGGAAGGAA	ACCTTGGTTGGCAAGGGGTGGGTGGGTGCGTGCCATCCAGTATGCCTGCTGTGGTCTCTTGGGGCCAGCACCCTGCTGGAATCCCCACCTTGGGCACCTGAGGCTCAGGGAGCCAGGCTCTGAGGACCCGCCAGGGGTGCTGGGGTGGCCCAGGCCAAATAGCAGCATCTCTACCCTTAGGCTCAGGGAAGCTTCCAGTCAGCAAGGAGGTGCCACTTCTGGTAACCCCTGCACTGCCCAGACTGCAAAGCAGCCCACACTTTCCTTAGGACTCTAAAAGGCCTATGACCGTGGTGGTCTCTCTGACACAGGGAGGGGACAGGAAGTGACAGCCCTCTTCCATCTGCCCCCATCCCCCCGTCTCCGCGGCAATCCTTAGGTTCAGGCCTTTGAGTCAACGTTCAGACCAAGCTCATGAAGACTCTGCTCAATGCTGGGCACTGGGTCAGTCCTCGTGCACGTGCATACACACCCAAACACACATTCCCACAAGCACCCAAATGCACACACACAAATTGCATGCATACACACATCACATGCACACAAACACAAACATGCACGTTAGCATACACACATTCATATACAAGCATGTGTACACATATTCATGCCTGCACAACTACACACCCATTGGCGCACACACACACAAACCAACACACAATGTGCGTGTTCACACACATATTCACATGCACATGTGTGCACATCAAACACATATGCACACACAACATAGCCACCCATGCGCACGAACATATATGTATAATATGCACGTATGCATACATAACACAAATGCACACACATGCAGACAGAAACACGTGCATTCACACATGCAAAGTATGCACCCACATGAACACACAGATGCACACATGCCTCAACACAAAGGCATCCACAAACCACACATGTGCAAGTATGAAAACACACCAGTGCACACAAATATTCACGCATGTAGGTGCATGCAGAAACACATGCATCCTCACACACATGCACATGAGTACCCATGCAGGCCCACACAAACATGGGTGTAAGTGCATAGACATGCACACACAGTCACACAAAAATGCACAGACATGGATGCAGATATGCTGAGATATTCACACTTACGTGTGCATACACAGCTGCCTGCTCATGCCCAAGACGCCCCCGTGCACTCACACACTGGTGCACACACCATTGTTCAATTCATTTGGGAAAGAGCTCAGTGCCAGCGTTCTTTCCAGAGCCGGGGGGATGAGGCATCTTGTTGGGGGGGTCTCCCGTCTTAGGTGGAAGGCTGCTGCCCAGCTGCTACAGGCAGGGGAGGCAGGGACGGGCCCAGAGCCCCCCACCGGGATGACAGCTCCAGGCTGATTGTTTGGCTTGGCAAGGCAGTCAGGATGCTGCCTCGTAAACTTAATAATAGCTGCCCCCCTTTTAATTTGTTTGACCTTGACGACAATAATTTATTATATGCACTGGAGCTCTGTCATCGTTTTTCTCCTGATTCATAAACAAAGCACTTGGCCCGGCTTCCTCCTCCACTCCCGAGCGGGGCCTTCTCCAGCCCACAGTGGCTGCCTGAGGCACAGGCAGGGCCGGGTGTCGCCCGGGGCTCCCTCTGAGGCACAGATTGGGGGGTCCTTTGGTCCTGCCCAGGGCTGGGCCCTGGGGACTCCACATGCCTGTTTCCAGGGCAGGCTGGTGGGCCCCAAGTTGAAGGCTGGAAGGAAGCAGTGCAGGACTGGCCAGCCTGGGTGCAGGCCCTGAGGCACCGTGGTGAGGGGGCCAGGTCTCCAGAGTCCCCTGATAGCCCTGGGCTGGGTCTCCAGCTCACTCACCACCACCTCGTTCTCTCTCTTGCAGAGGAGCCCACGTTCCGCTGTGACGAGTGTGACGAACTCTTCCAGTCCAAGCTGGACCTGCGGCGCCATAAGAAGTACACGTGTGGCTCAGTGGGGGCTGCGCTCTACGAGGGCCTGGCTGAGGAGCTCAAGCCCGAGGGCCTTGGCGGTGGCAGCGGCCAAGCCCACGAGTGCAAGGACTGCGAGCGGATGTTCCCCAACAAGTACAGGTGCCACGCCCTCCTCTGAGTCTTCCTCCCCTTCCCGTGCCCTCCTCTGAGTCTTCCTCCCCTCCCTTCCCCCGCCTCGCCCCCCAACAGGTGTAGACAAAGGGCCCCCTGGTGGGACACACCCTGGGGATATGTGCCCCTTCTGGGACACTGGCGCTGCGGGCAGAGCAGGTGCAGGATCCCGTGGCCAGAGCCGCAGGTGTCCCCTGGCTCCGACCGCAAATGTCCTGGCCCCAGAAAGCCACCTCCTAGGCTCATGGCCCTGCCTGCCAGGGCTGCGCTGCGGGGAGAAACTAGAAAGGAGAAAAACTCAGGCCAGAGCCCAGACCTGCAGCCGCTAAGCCCAAGGCTACTTCTGTAATAAGGTCCCAGACCGGGATGGGGGTGGCAGCACCCACCACCAAGGGATTCATGGTGGCCCCACCCTCCGGACACACGAGCAGCTCCTTCTCAGATGGTAGGCAAGAGCCAGAAGGGGTCACCCCTATCCCCAAGGCACCAGCCCTGCTCCCCACCAGGTGGCAGCGGACTGTCCCAGGAGGGGCTTCAGAGACATGAGCGGGCCCACGGTGGCCCTCCCCTGCCCTGAGACCAGGCAGGAGCCAGCATCTGGGGCCTGGGCGGCCTTGGGGACCTGTGGCCCCCGGGAAAGACAAGATTCCTGGTCTCTGTGGGGAGTGAAACCAGGACATTCAGTCCAGTGCTGTAAGGAGCTATGGAGACTTTTCCAACCTGGGCCCCTCCTCCTGCCTTTGAGGATTTCCTCCAGGACAGCCTCGCAAAGTCAGAGCAAAGCCCATCAGGCCACTAACCGGCTATGTGATTGCTGGGGATTACCGCCCATCCCCGCACCGCTCCCTGGGGACGGCAAACCCTCCACCCGGAACAGATGACTGAGAAAATAAACGTTTGGGCAAATCCCAACTGCGGCCCTTCCCAGTAAACGCCGCTCAAGAGGGTCCGTGTTTTCTTTACATAAACACATAAATCACAATTAACAACGGGGGAAAAGATACAGTCTCCTGATGCTCGGGAACCAGGCGTTTCTGATCTGAATGGATGGCTGGGCCCCGTAATTAACGAGCCGTGATATATCACTGCTTTGCTCATGAAGATTAACGGTCATCCCTGGGACAAGGGAAGCCGGGGGTCCCCCAAGAGCAGGGAATTAGAGCGACTCCTTCATCCAAGTGCAGCGGCCCCTCCGAGCAGCTGTGCTCGGGTCCCCTCCGTGTCACCTGGAGACCCCCGAGTGACTCCCGACCTGCGTCCTCGGTGTGTGCCCAGCACTCAGAGGGGCATCCTTGGGTTTGGGGGACTTGCCCCACTCCTGGGTTCATGCCAGTGTTGAACCCCTTTTTTCTTAGGCCCAAGCCTAGCTGCAAGGCCAGGACCAGCTTGAGAGGCACCCAGGGAGTGTGGGCCGGGGTCCGGCACTGCCTCCAGCCGCCCTGGGGGTGGTCTTGGGTGAGGGATGGAACCATCCAGGTGCCGGCTTCCCCATCTGCTAGGGGAAGGCCGCCTCTGCCCCTCACAGCCCGGCCACGGCAGAGAGGAGGTGGGCAGGGAGACACCAGCATGTGCTCTGATCCCTCGGCAGCGTGGTGGGGGCTCCGAAGGGGCACTGGGAACAAGCTGTATGGTTGGGGTCCCCTCCCGGGCAGAGGGCAGGTAGTCGGGCCCCGCAGTGAGCCTCGTCCTCTGCGCAGCCTGGAGCAGCACATGGTCATCCACACGGAGGAGCGCGAGTACAAATGCGACCAGTGTCCCAAGGCCTTCAACTGGAAGTCCAACCTCATCCGCCACCAGATGTCCCACGACAGCGGCAAACGCTTCGAATGTGAAAACTGCGTGAAGGTAACCTGCGGGGCGGCCCCGTCTCAGCCCCGGGGCAGCAGGAGGCTGCAGACGGGCGCCCGCCCCCGTGCTCCCTACACCCCCTGGTCCAAATGTAGATGGAGTGCGGCAGAGTGGGTAGGAGGCCCCTGCGGTGGCTCGGGCCCTTCCGTGTGACTAGGAAGGAANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	benign	891
Gene PRDM16 (PR/SET domain 16) variant at chromosome position 3411765 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Left_ventricular_noncompaction_8', 'Left_ventricular_noncompaction_cardiomyopathy']	TGTGTGGTGTGTGTAGTGTGGGTGTGTGTGTGGTGTGGGTGTGAGTGTGTGTGGTTGTGTGTGGGTGTGTGGTGTGGGTGTGTGTGGTGTATGTGTGCATGTGTGTGGTTGTGTGTGGGTGTGTGGTGTGGGTGTGTGTGTGGTGTTTGTGTGCATGTGTGTGGTTGTGTGCATGTGTGTGGTGTGGTTGTGGGTGTGGTGTGTGTGTATGTGCATGTGTGTGGTGTGGGTGTGTGTGCGTGTGGGGGGTGTGGTTGTGTGTTTGCATGGGGGGGTGTGGGGGGTGTGCATGTGTGTGTGCTGTGTGTGCATGTGTGTGATTGTGTGTGTACGAATGTGGTGTGTGGTTGTGTATGTGCATGTGTATGAATGTGTGTGGTTGTGTGTGTGCGTGTGTGTGGTGTGTGTGCATGTGTATGAATGTGGTGTGTGGTTGTGTGTGCTGTGTGTGTGCATGTGTAGATGTGTGTGTGTTCCTCCCTTTTTTCTTAGAAAAACAAGAGGCAAAAGACAAGCTGGTGATTCGCTGACAACCGTTCACAGGCCTTTAGGAAAATGGCCGGAACCCCCAGGCCGCTGGGTCCTGGAGTCTAGCTGGGCCGGCACTGCCCTCTCCTGTTGAGAGAAGATGCTGGCACTCGCCAGCCAGAGCCGGGCACTGCCGCTTCCATCCCAGTCTGAGGAGGTTCCCAGTAGTAGGATTTTCACTTTTCTCAAGCAGGGAATAGTCCCTCTGCATAGGGCTCCTGCCCGGGGTGACCTCCTATCCATGTCCACCTCCAGCCATCTCCAAAGGGTAGTTGAGTACTGCCAGGAGCCCCAAAGTCCGGGATCCCCGAGTTGGGGCCTCCTGAGAACCTCAGGAACTGTCTGTGTCAACCCAGAGGCTGCCTTCTCCGGGGTGCAGGCAGCAGGATCTGGTGCGGAGAGGGGAGGTGGGAGGACACTAGGAACACTGTGAACTTCTAGAGAGCAGGAGGCACAGTCTGCGTGGTCAGCGTCCTGCCCCCACCCCTGCTAGAACAGCTGCAAAAGTGAAGACGAAGGCAGGGCGGGCCCTGAGCCAGCTTGCCCTGAATCCACTGATGGAGTGGCAGACACCATCACATGCATTCGCTTTCCCCGTGCCCCGCCCTGGAGAGCAGGTTCACCTTCCCCAGGGACTTCTGAAAATCTTGGCTCCTAAACTAGCAACACCGTGGGGTAGGAGGGTGGAAACAGCAGTGGCAAGCCCATTCTCCAGCAAAGAAGGTGGCGGCACAGCAGGAACTGTACCAACCGGCCCCCCGATCTGTGCTGGTCACTGGAGGCCAGTCTTGGGTGGGGCGCATGCACACACACATATGTTTCCACATGCTCATGTGTGCACACGTGTGCACACTCAGACACGCACGCTTGCAGAATACACACACGCCTGCCCAGACACGGACACTTACGCACACAGACACACATGCACCTGCCTGTGTATTTGTGTGTACGCACACACGCATGTATGCACAGTACACACATATACACCCATGCCCACGCACATGCACCCAGACAGACTGCTTCCAGCCCCAGCCTCGCCCCTCCAGCGGCTGGCTTTCCCAGTAATTTCATGTGGCGTTTTCAGCAGGGTTTCCCGGTCATTTCATGCGGGTTTGTCTTGGCTTCTGCTGATGTTTTAGGTGAGGTCTGCCACAAGTCCTACACGCAGTTCTCCAACCTGTGCCGGCACAAGCGGATGCACGCCGACTGCCGCACGCAGATCAAGTGCAAGGACTGTGGCCAGATGTTCAGCACTACCTCCTCCCTCAACAAGCACCGGCGCTTCTGCGAGGGCAAGAACCATTACACGCCGGGCGGCATCTTTGCCCCGGGCCTGCCCTTGACCCCCAGCCCCATGATGGACAAGGCAAAACCCTCCCCCAGCCTCAATCACGCCAGCCTGGGCTTCAACGAGTACTTTCCCTCCAGGCCGCACCCGGGGAGCCTGCCCTTCTCCACGGCGCCTCCCACGTTCCCCGCACTCACCCCCGGCTTCCCGGGCATCTTCCCTCCATCCTTGTACCCCCGGCCGCCTCTGCTACCTCCCACATCGCTGCTCAAGAGCCCCCTGAACCACACCCAGGACGCCAAGCTCCCCAGTCCCCTGGGGAACCCAGCCCTGCCCCTGGTCTCCGCCGTCAGCAACAGCAGCCAGGGCACGACGGCAGCTGCGGGGCCCGAGGAGAAGTTCGAGAGCCGCCTGGAGGACTCCTGTGTGGAGAAGCTGAAGACCAGGAGCAGCGACATGTCGGACGGCAGTGACTTTGAGGACGTCAACACCACCACGGGGACCGACCTGGACACGACCACGGGGACGGGCTCGGACCTGGACAGCGACGTGGACAGCGACCCTGACAAGGACAAGGGCAAGGGCAAGTCCGCCGAGGGCCAGCCCAAGTTTGGGGGCGGCTTGGCGCCCCCGGGGGCCCCGAACAGCGTGGCCGAGGTGCCTGTCTTCTATTCCCAGCACTCATTCTTCCCGCCACCCGACGAGCAGCTGCTGACTGCAACGGGCGCCGCCGGGGACTCCATCAAGGCCATCGCATCCATTGCCGAGAAGTACTTTGGCCCCGGCTTCATGGGGATGCAGGAGAAGAAGCTGGGCTCGCTCCCCTACCACTCGGCGTTCCCCTTCCAGTTCCTGCCCAACTTCCCCCACTCCCTTTACCCCTTCACGGACCGAGCCCTCGCCCACAACTTGCTGGTCAAGGCCGAGCCAAAGTCACCCCGGGACGCCCTCAAGGTGGGCGGCCCCAGTGCCGAGTGCCCCTTTGATCTCACCACCAAGCCCAAAGACGTGAAGCCCATCCTGCCCATGCCCAAGGGCCCCTCGGCCCCCGCATCCGGCGAGGAGCAGCCGCTGGACCTGAGCATCGGCAGCCGGGCCCGTGCCAGCCAAAACGGCGGCGGGCGGGAGCCCCGCAAGAACCACGTCTATGGGGAACGCAAGCTGGGCGCCGGCGAGGGGCTGCCCCAGGTGTGCCCGGCGCGGATGCCCCAGCAGCCCCCGCTCCACTACGCCAAGCCCTCGCCCTTCTTCATGGACCCCATCTACAGGTATTCAGCACCCCAGCCTCACTGGCTCTCCCTGGGGCGGGGCCGCGGCGGTGCTGGGCGGGCTCAGTGCATGGTGGTGTCTCTTTCAAGCTCCTCCAAGGTCGTCCCCCGGCCTTTGCTGACTTCAGGAAGATGCCCCTGTTCTTGGGGGGGTCTGCACCCCTCAGGAGGGATGCCTGGCTTGGCTGCTCCTAAGCTAGGTGCCTGGCCCGGGCCGTGTTTGGGAGGCCAGGACGGGTGCTCCTGGACACGTGCAGTTTGCTTGCACCGATGACCACTCAGACATCACACTGCTGGCCTCGAGCGCCTCCTATCCCCAGTAACCCCACCCCCCACCCCAACCCACACCCTTCCCCACCCCTCTCTCCAGCTGTCGTCTCTGGTCTAGCTCTCCCCAGCCTCTACCTGCAGAAGTCAGAGGGGCCTGGGCTGAGTGCTTCCTGCCCCTCCTGGTGCGCTCCTGCCCCTGGAGCCACAGCGGCAGGGGGAATGGGGAGGGGGTGTCTTTCTGGGGGCCCCGGGGGAATCAGAGAAGGAGCCAGTGGTCCTTGGAGGGGAGGAGGAGGCGAGGGATGAAGCAAGCATTGGAGGGTTTTCTAGGCACCAGTGTCCTGTGTCTCTGATGCCTCTCTTGGGGAAAGGCGAGTTTAATGCCACTCCCTAATTTCTGGACAGGTTTGCCCCTCCCTAGAATGCAGGTGGGTTGGAAGAGCAGGGCTAGGCTTGGGGAGGGGGTCCTACCCCCACCAGCACCTGTCCCTGTGCTCCCCGCTTCGCCATGCAAGGAGACAGGCAGGAGACCCTGAGCAAGTCCTGTCCTAATAAAGCAAAAGCGGCCAGTCATAGACATGCTGGGGGTGCTGTGTCTTGCAACGGGGTGGCAGGTTTACCAAAGCGCTCTCAGTGATGGGAAAGAGGCTCCCAAATCTAACCCTCACTATGGGAACCCAGGCAGACAGAGAAGAGCAGGCTGCCTTCAAGAGCCACCAGGCCAAAGGAGGGTCAGTGGATA	TGTGTGGTGTGTGTAGTGTGGGTGTGTGTGTGGTGTGGGTGTGAGTGTGTGTGGTTGTGTGTGGGTGTGTGGTGTGGGTGTGTGTGGTGTATGTGTGCATGTGTGTGGTTGTGTGTGGGTGTGTGGTGTGGGTGTGTGTGTGGTGTTTGTGTGCATGTGTGTGGTTGTGTGCATGTGTGTGGTGTGGTTGTGGGTGTGGTGTGTGTGTATGTGCATGTGTGTGGTGTGGGTGTGTGTGCGTGTGGGGGGTGTGGTTGTGTGTTTGCATGGGGGGGTGTGGGGGGTGTGCATGTGTGTGTGCTGTGTGTGCATGTGTGTGATTGTGTGTGTACGAATGTGGTGTGTGGTTGTGTATGTGCATGTGTATGAATGTGTGTGGTTGTGTGTGTGCGTGTGTGTGGTGTGTGTGCATGTGTATGAATGTGGTGTGTGGTTGTGTGTGCTGTGTGTGTGCATGTGTAGATGTGTGTGTGTTCCTCCCTTTTTTCTTAGAAAAACAAGAGGCAAAAGACAAGCTGGTGATTCGCTGACAACCGTTCACAGGCCTTTAGGAAAATGGCCGGAACCCCCAGGCCGCTGGGTCCTGGAGTCTAGCTGGGCCGGCACTGCCCTCTCCTGTTGAGAGAAGATGCTGGCACTCGCCAGCCAGAGCCGGGCACTGCCGCTTCCATCCCAGTCTGAGGAGGTTCCCAGTAGTAGGATTTTCACTTTTCTCAAGCAGGGAATAGTCCCTCTGCATAGGGCTCCTGCCCGGGGTGACCTCCTATCCATGTCCACCTCCAGCCATCTCCAAAGGGTAGTTGAGTACTGCCAGGAGCCCCAAAGTCCGGGATCCCCGAGTTGGGGCCTCCTGAGAACCTCAGGAACTGTCTGTGTCAACCCAGAGGCTGCCTTCTCCGGGGTGCAGGCAGCAGGATCTGGTGCGGAGAGGGGAGGTGGGAGGACACTAGGAACACTGTGAACTTCTAGAGAGCAGGAGGCACAGTCTGCGTGGTCAGCGTCCTGCCCCCACCCCTGCTAGAACAGCTGCAAAAGTGAAGACGAAGGCAGGGCGGGCCCTGAGCCAGCTTGCCCTGAATCCACTGATGGAGTGGCAGACACCATCACATGCATTCGCTTTCCCCGTGCCCCGCCCTGGAGAGCAGGTTCACCTTCCCCAGGGACTTCTGAAAATCTTGGCTCCTAAACTAGCAACACCGTGGGGTAGGAGGGTGGAAACAGCAGTGGCAAGCCCATTCTCCAGCAAAGAAGGTGGCGGCACAGCAGGAACTGTACCAACCGGCCCCCCGATCTGTGCTGGTCACTGGAGGCCAGTCTTGGGTGGGGCGCATGCACACACACATATGTTTCCACATGCTCATGTGTGCACACGTGTGCACACTCAGACACGCACGCTTGCAGAATACACACACGCCTGCCCAGACACGGACACTTACGCACACAGACACACATGCACCTGCCTGTGTATTTGTGTGTACGCACACACGCATGTATGCACAGTACACACATATACACCCATGCCCACGCACATGCACCCAGACAGACTGCTTCCAGCCCCAGCCTCGCCCCTCCAGCGGCTGGCTTTCCCAGTAATTTCATGTGGCGTTTTCAGCAGGGTTTCCCGGTCATTTCATGCGGGTTTGTCTTGGCTTCTGCTGATGTTTTAGGTGAGGTCTGCCACAAGTCCTACACGCAGTTCTCCAACCTGTGCCGGCACAAGCGGATGCACGCCGACTGCCGCACGCAGATCAAGTGCAAGGACTGTGGCCAGATGTTCAGCACTACCTCCTCCCTCAACAAGCACCGGCGCTTCTGCGAGGGCAAGAACCATTACACGCCGGGCGGCATCTTTGCCCCGGGCCTGCCCTTGACCCCCAGCCCCATGATGGACAAGGCAAAACCCTCCCCCAGCCTCAATCACGCCAGCCTGGGCTTCAACGAGTACTTTCCCTCCAGGCCGCACCCGGGGAGCCTGCCCTTCTCCACGGCGCCTCCCACGTTCCCCGCACTCACCCCCGGCTTCCCGGGCATCTTCCCTCCATCCTTGTACCCCCCGGCCGCCTCTGCTACCTCCCACATCGCTGCTCAAGAGCCCCCTGAACCACACCCAGGACGCCAAGCTCCCCAGTCCCCTGGGGAACCCAGCCCTGCCCCTGGTCTCCGCCGTCAGCAACAGCAGCCAGGGCACGACGGCAGCTGCGGGGCCCGAGGAGAAGTTCGAGAGCCGCCTGGAGGACTCCTGTGTGGAGAAGCTGAAGACCAGGAGCAGCGACATGTCGGACGGCAGTGACTTTGAGGACGTCAACACCACCACGGGGACCGACCTGGACACGACCACGGGGACGGGCTCGGACCTGGACAGCGACGTGGACAGCGACCCTGACAAGGACAAGGGCAAGGGCAAGTCCGCCGAGGGCCAGCCCAAGTTTGGGGGCGGCTTGGCGCCCCCGGGGGCCCCGAACAGCGTGGCCGAGGTGCCTGTCTTCTATTCCCAGCACTCATTCTTCCCGCCACCCGACGAGCAGCTGCTGACTGCAACGGGCGCCGCCGGGGACTCCATCAAGGCCATCGCATCCATTGCCGAGAAGTACTTTGGCCCCGGCTTCATGGGGATGCAGGAGAAGAAGCTGGGCTCGCTCCCCTACCACTCGGCGTTCCCCTTCCAGTTCCTGCCCAACTTCCCCCACTCCCTTTACCCCTTCACGGACCGAGCCCTCGCCCACAACTTGCTGGTCAAGGCCGAGCCAAAGTCACCCCGGGACGCCCTCAAGGTGGGCGGCCCCAGTGCCGAGTGCCCCTTTGATCTCACCACCAAGCCCAAAGACGTGAAGCCCATCCTGCCCATGCCCAAGGGCCCCTCGGCCCCCGCATCCGGCGAGGAGCAGCCGCTGGACCTGAGCATCGGCAGCCGGGCCCGTGCCAGCCAAAACGGCGGCGGGCGGGAGCCCCGCAAGAACCACGTCTATGGGGAACGCAAGCTGGGCGCCGGCGAGGGGCTGCCCCAGGTGTGCCCGGCGCGGATGCCCCAGCAGCCCCCGCTCCACTACGCCAAGCCCTCGCCCTTCTTCATGGACCCCATCTACAGGTATTCAGCACCCCAGCCTCACTGGCTCTCCCTGGGGCGGGGCCGCGGCGGTGCTGGGCGGGCTCAGTGCATGGTGGTGTCTCTTTCAAGCTCCTCCAAGGTCGTCCCCCGGCCTTTGCTGACTTCAGGAAGATGCCCCTGTTCTTGGGGGGGTCTGCACCCCTCAGGAGGGATGCCTGGCTTGGCTGCTCCTAAGCTAGGTGCCTGGCCCGGGCCGTGTTTGGGAGGCCAGGACGGGTGCTCCTGGACACGTGCAGTTTGCTTGCACCGATGACCACTCAGACATCACACTGCTGGCCTCGAGCGCCTCCTATCCCCAGTAACCCCACCCCCCACCCCAACCCACACCCTTCCCCACCCCTCTCTCCAGCTGTCGTCTCTGGTCTAGCTCTCCCCAGCCTCTACCTGCAGAAGTCAGAGGGGCCTGGGCTGAGTGCTTCCTGCCCCTCCTGGTGCGCTCCTGCCCCTGGAGCCACAGCGGCAGGGGGAATGGGGAGGGGGTGTCTTTCTGGGGGCCCCGGGGGAATCAGAGAAGGAGCCAGTGGTCCTTGGAGGGGAGGAGGAGGCGAGGGATGAAGCAAGCATTGGAGGGTTTTCTAGGCACCAGTGTCCTGTGTCTCTGATGCCTCTCTTGGGGAAAGGCGAGTTTAATGCCACTCCCTAATTTCTGGACAGGTTTGCCCCTCCCTAGAATGCAGGTGGGTTGGAAGAGCAGGGCTAGGCTTGGGGAGGGGGTCCTACCCCCACCAGCACCTGTCCCTGTGCTCCCCGCTTCGCCATGCAAGGAGACAGGCAGGAGACCCTGAGCAAGTCCTGTCCTAATAAAGCAAAAGCGGCCAGTCATAGACATGCTGGGGGTGCTGTGTCTTGCAACGGGGTGGCAGGTTTACCAAAGCGCTCTCAGTGATGGGAAAGAGGCTCCCAAATCTAACCCTCACTATGGGAACCCAGGCAGACAGAGAAGAGCAGGCTGCCTTCAAGAGCCACCAGGCCAAAGGAGGGTCAGTGGAT	pathogenic	924
Variant at chromosome 1, position 3430950, gene PRDM16 (PR/SET domain 16): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	benign	GCACTTGGAGAAAATCACGCAGGGGAGAAGGCCAAGGGAAAATGGAGACAGAGGTCAGGGTGATGCGCCTCCCAGCCAAGGGTCACCTAAGAGGGACAAAGGTCACCAAGGATGGCCAAGGAGGGCCAAGGGTCACATAGGAGGGCCGAAGAGTGCCAAGGTTTGCCAAGGATGGCCAAAGAGGGCCGGCAGCAGCGGGAGCTGGAGAGAGACCAGGGACAGATTCTCCCCCAGAGTCTTGGAAGGAACCCGGCCTGCCCTCGCCTGGATCTTGGACTTCTGGCCTCAGAGCTGTGAAAGCGTCCACGGCTGTTGCTTCAGGCCCCCATTCTGTGGGGCTTGGTTTGGGCAGCTCTGGGAAACTGACTGTCCTCCCTGTTGGAGCCAAACCAGCCACTGGGCCCTATTCTGTGTCCGTGCCGGATGCTCCGCTCCCCAACACTAAAAAGCAAATACTCTGTGCATGGGGGGTGTGCAGCAGACATAAAGAGGGCAAAGTCCCTGCCCCCAGCTGGTGGGAAGCCCATGCAAACCCACGTGGGGCCACCAGATGAGATCTCACAGCACATGCCCATGTGATGAGCCTGGGCTCTCACCCTGCGCCATCTCATCCCGTCCTCAGAGTGGACAGGGAGGGGTATGTCCTCGTGTCATCGAGAGGGCACAGGCCCCAAAGACAGAACCCCACCCGAGGGCACCTCACCAACAACCAGGGTGAGAACCAGGACCCGGATCCCAGCAGCTCCGTGGCTGAGGAGATGGGTGTGTGTACAGGACGCTCTTGGCCCCCAACACAGGCGACCAGGACCGAGGAACTCTCCTCAAGCCCTGAAACCTGGTGAGGTTCTGTCCGTCCTGGAAGGCAGAAAGACAAGAGATAGACACGTGGCCCATCTGTGGAGAGCCAGGAAATTGTGGCCTCCCCAAGCCCAGTTCCCGTGCACACAGGCGAGTCCGAGACACGGAGGTCGGTCGCCGTGAGACGCTGTCACTTTCTTGCTTGGATGCCAAGAGCAGGACCCCTGCATCTCACCCACACCGTGGATACCTCCCAGGGCAGCGGGAGGCAGTGCCCCCGGGCGGAGTGAGGACAAGGAAGAGTGGCCCTGGGGCTCTGGGCATGGGCAGTCCAGAAACTGCGTGCCCTGCCCTTTGCTTGGGCCCCTCTACCAGTATGTCCAGCATGTGCCCGGGGGCCCTCAGCTCCCCTGGGGCCCAGCCCACCCAAGACACAGCTCTTGGTCGTGAACATGAAGATGAGCCAAACTCTAGTGGCTCTTCCTGAAAGAAATGAGAATGCCCAGCCACACCCATGCACGCTTTGTTCTTTTTTATTTAATACTGAGGAACCGGAGTGGAGGGGTCCTGCCGGGCTGCAGTGACCCTGAGGGAAGTCAGGAGAGCCCTGGGCTGCAGAAGAGTCCCCCCACAGGCTCCGAAGCAAGCTTGTCCTGGTGCATTCAGACTGCTCACAGCAGGCTTTGGGCCCTCACTCTCCAGATCCCAGAGAGCCCTCCAGGGCTCCCGGCTCTCGGGCCAGTGCCCACGTCCTCGAGTTGTCAGCCTGAATTCCTTCCCCCTGAAGTCTGCCCTGAGGGTGCCCCTCGTGCACTGCCCAACCCCCGTGCCAGTGCAGGTCCAGCTTCCCCACAGGACTGCCCACTGCTTCCACCCCAACACCGCCCCGGCCCTGGTGTCCTCCCGGCCATAGCAGCTTGCTGCTGGGCCTTGCCCTGCCCCCACCGCCCCGAGCGCTTGCCCTCCTCTCCCGGGATCGCCCCCAGGCCTCCGTGCCTCTCACTCTGCAGAGTCAGTGGCTGGGCCCAGGGACCCGCGGGAGCTCCCTCAGGAAGGGGGCTGAGTGTTGTCGGGGGAGGCAGTGGGGGCAGAGCGGAGTCACCAGCCTTTGGGGGTCCATGGGAAGGACAGAGACACCCAAACTCAGTCAATCTCCTCCTGCATCATTTCAGGGCGGACATGCAGATCGTGGACGGCAGTGCCCAGTGTCCAGGCCTAGCCAGTGAGAAGCAGGAGGACGTGGAGGAGGAGGACGACGATGACCTGGAGGAGGACGATGAGGACAGCCTGGCCGGGAAGTCGCAGGATGACACCGTGTCCCCCGCACCCGAGCCCCAGGCCGCCTACGAGGATGAGGAGGATGAGGAGCCAGCCGCCTCCCTGGCCGTGGGCTTTGACCACACCCGAAGGTGGGGGCAGCCGTGTGCTCCAGGATGGGGCAGGGAGGGAACGTGGGCGTCCATCACGAGGGGGACCTCCCTCTTCAGCCACTCGTGAGCCCATCCCTGGCTCAGCCCCTACTCCAGCACAGCCACCTCAGGGCCTCCACACACAGGCCAGGGCAAGGCTGGGCCAGGGGCAACGGGGTCAGGGGCCCTTAACCCCCCCACCCACCCCCAGGGGCCCTGGAGGCTGGAAGCAGAGTGTGGAGGGGAAGGCATTTCCCTGCACTGAGCAGACATGGAGGCCCCCGGCCCTGCAGCAGAGCTGCCTGTCAGCCTGGGACAGCGCGTGCAGCCACTAGAGGGCCGTGGGCACACGGGGGCCAAGCACCCACCATTCTGTGCCGGCCAGGGCCACTTCCCCATGTCCTCAGTGTTCGCCACCAATATCGGGCCTGGGCGACACTGCCAGCATTCCCAGATGCCCTTGGGGAGGCCCTTCGGAGGTGGCACTTCCTCTCCAGCCTGGATGCTGCCCCTGAGTCCTGGGAGAGGGAGCCCCGGGCCTCTCTGAGCTGCCTGGGGTCTTAGAGAATTGAAGCCTTCTTCTCCACCCTCCACTGGCAAGACCTGAGCCCCCTGCCTGCTGCCTGATGCGTGTGCACGCACTCACCCCCTCCCTGACCTCTGTCCGTCACTCTCCTGCATCCGTGTGCCTTCCCGTCCAGGCGTCTGTGTGTCCGTGTGTCTGTCTCCCTGTGCATGTGGCTGGCAGAGATGCAGCGGCGTGCATGCAGGCCCGGAGCTGGGCTTGCAGCATCAGAGAGGCGGCCAAGGCCAGGCTGCTGACAGCAGGCCTTCCCTCTCCCCGGTCATTGGTGCAGGTGTGCTGAGGACCACGAAGGCGGTCTGTTAGCTTTGGAGCCGATGCCGACTTTTGGGAAGGGGCTGGACCTCCGCAGAGCAGCTGAGGAAGCATTTGAAGTTAAAGATGTGCTTAATTCCACCTTAGATTCTGAGGCTTTAAAACATACACTGTGCAGGCAGGCTAAGAACCAGGTAGGTACCCGCCAGAGCCCCTCCCCCACCCCACCTGGCCTCCTCAGCCAGAGGACAGCCAGCACTCCTCTCCCGCCGTGGCCCTCCTAGGCCTGAGGAAGCTCTGGTCACGCAAACGCCCCCACGCTGCATCCTCCAGAGAGGCCCCAGCGACCACCGCCCTCCCGCAAGCTGGGGCGCAGCAGGGAGGGGCTGAGAGCCGATGACCCTGGCAGGACCCTCACGAGGGAGCTCACTCATGGACACGGGCAGCTCACCTTCCTGTGGTCCTCAGTGGGAAAGGTCTGTGAGCAGGTTTCTGGCCCGCCCAGCCGCCTTCGTCTCCCTCCCTCTCTGATCTGGGCCCCAGTGGCCTGCAGCCCGGGCTTTTCCCGGGGGAAGAGCTGTCCAGCCGGGCAGTCTCTGCTTCCCAGCTGGAGCAATGAGGTCAGCGAGGGTGCCAGGGTTTTGGCCCCAGGCGCTTCTCGGCTTCTCTCCTCAGGGTAGGTGGCCCCAGGGCCCTGCTCCCGCATTTCTCTCCAGTCTGTAGGGACTCAGGGTCTCATTCAGCACTCTACAGCCCTCCCAGAGGGAACAGGCCCGCCCCAGGTCTCAGCAAAAGCCGTCTGCGTGTCTGTCTTTGTCTTTTTACTAATTCTGTCTGGAGTGTTAACTCGGGTAGGACAGTGCTGGGCTTCCCCACCTTCCCTGCCCTTAACCCACACACGATGCTCCCCAGGTCCCATCCCCACCTGCCCTGTGCTGGGGGCAGAAGGATGTCCCATGAACTAACGCCTGGAAACACATCTGTACTTCCTAAGAATCCCATTGGCCCAGAAACGCTGCACATCCCTGTCCCAGAGGCAGCTCTTTGGTGT	GCACTTGGAGAAAATCACGCAGGGGAGAAGGCCAAGGGAAAATGGAGACAGAGGTCAGGGTGATGCGCCTCCCAGCCAAGGGTCACCTAAGAGGGACAAAGGTCACCAAGGATGGCCAAGGAGGGCCAAGGGTCACATAGGAGGGCCGAAGAGTGCCAAGGTTTGCCAAGGATGGCCAAAGAGGGCCGGCAGCAGCGGGAGCTGGAGAGAGACCAGGGACAGATTCTCCCCCAGAGTCTTGGAAGGAACCCGGCCTGCCCTCGCCTGGATCTTGGACTTCTGGCCTCAGAGCTGTGAAAGCGTCCACGGCTGTTGCTTCAGGCCCCCATTCTGTGGGGCTTGGTTTGGGCAGCTCTGGGAAACTGACTGTCCTCCCTGTTGGAGCCAAACCAGCCACTGGGCCCTATTCTGTGTCCGTGCCGGATGCTCCGCTCCCCAACACTAAAAAGCAAATACTCTGTGCATGGGGGGTGTGCAGCAGACATAAAGAGGGCAAAGTCCCTGCCCCCAGCTGGTGGGAAGCCCATGCAAACCCACGTGGGGCCACCAGATGAGATCTCACAGCACATGCCCATGTGATGAGCCTGGGCTCTCACCCTGCGCCATCTCATCCCGTCCTCAGAGTGGACAGGGAGGGGTATGTCCTCGTGTCATCGAGAGGGCACAGGCCCCAAAGACAGAACCCCACCCGAGGGCACCTCACCAACAACCAGGGTGAGAACCAGGACCCGGATCCCAGCAGCTCCGTGGCTGAGGAGATGGGTGTGTGTACAGGACGCTCTTGGCCCCCAACACAGGCGACCAGGACCGAGGAACTCTCCTCAAGCCCTGAAACCTGGTGAGGTTCTGTCCGTCCTGGAAGGCAGAAAGACAAGAGATAGACACGTGGCCCATCTGTGGAGAGCCAGGAAATTGTGGCCTCCCCAAGCCCAGTTCCCGTGCACACAGGCGAGTCCGAGACACGGAGGTCGGTCGCCGTGAGACGCTGTCACTTTCTTGCTTGGATGCCAAGAGCAGGACCCCTGCATCTCACCCACACCGTGGATACCTCCCAGGGCAGCGGGAGGCAGTGCCCCCGGGCGGAGTGAGGACAAGGAAGAGTGGCCCTGGGGCTCTGGGCATGGGCAGTCCAGAAACTGCGTGCCCTGCCCTTTGCTTGGGCCCCTCTACCAGTATGTCCAGCATGTGCCCGGGGGCCCTCAGCTCCCCTGGGGCCCAGCCCACCCAAGACACAGCTCTTGGTCGTGAACATGAAGATGAGCCAAACTCTAGTGGCTCTTCCTGAAAGAAATGAGAATGCCCAGCCACACCCATGCACGCTTTGTTCTTTTTTATTTAATACTGAGGAACCGGAGTGGAGGGGTCCTGCCGGGCTGCAGTGACCCTGAGGGAAGTCAGGAGAGCCCTGGGCTGCAGAAGAGTCCCCCCACAGGCTCCGAAGCAAGCTTGTCCTGGTGCATTCAGACTGCTCACAGCAGGCTTTGGGCCCTCACTCTCCAGATCCCAGAGAGCCCTCCAGGGCTCCCGGCTCTCGGGCCAGTGCCCACGTCCTCGAGTTGTCAGCCTGAATTCCTTCCCCCTGAAGTCTGCCCTGAGGGTGCCCCTCGTGCACTGCCCAACCCCCGTGCCAGTGCAGGTCCAGCTTCCCCACAGGACTGCCCACTGCTTCCACCCCAACACCGCCCCGGCCCTGGTGTCCTCCCGGCCATAGCAGCTTGCTGCTGGGCCTTGCCCTGCCCCCACCGCCCCGAGCGCTTGCCCTCCTCTCCCGGGATCGCCCCCAGGCCTCCGTGCCTCTCACTCTGCAGAGTCAGTGGCTGGGCCCAGGGACCCGCGGGAGCTCCCTCAGGAAGGGGGCTGAGTGTTGTCGGGGGAGGCAGTGGGGGCAGAGCGGAGTCACCAGCCTTTGGGGGTCCATGGGAAGGACAGAGACACCCAAACTCAGTCAATCTCCTCCTGCATCATTTCAGGGCGGACATGCAGATCGTGGACGGCAGTGCCCAGTGTCCAGGCCTAGCCAGTGAGAAGCAGGAGGACGTGGAGGAGGAGGACGACGACGATGACCTGGAGGAGGACGATGAGGACAGCCTGGCCGGGAAGTCGCAGGATGACACCGTGTCCCCCGCACCCGAGCCCCAGGCCGCCTACGAGGATGAGGAGGATGAGGAGCCAGCCGCCTCCCTGGCCGTGGGCTTTGACCACACCCGAAGGTGGGGGCAGCCGTGTGCTCCAGGATGGGGCAGGGAGGGAACGTGGGCGTCCATCACGAGGGGGACCTCCCTCTTCAGCCACTCGTGAGCCCATCCCTGGCTCAGCCCCTACTCCAGCACAGCCACCTCAGGGCCTCCACACACAGGCCAGGGCAAGGCTGGGCCAGGGGCAACGGGGTCAGGGGCCCTTAACCCCCCCACCCACCCCCAGGGGCCCTGGAGGCTGGAAGCAGAGTGTGGAGGGGAAGGCATTTCCCTGCACTGAGCAGACATGGAGGCCCCCGGCCCTGCAGCAGAGCTGCCTGTCAGCCTGGGACAGCGCGTGCAGCCACTAGAGGGCCGTGGGCACACGGGGGCCAAGCACCCACCATTCTGTGCCGGCCAGGGCCACTTCCCCATGTCCTCAGTGTTCGCCACCAATATCGGGCCTGGGCGACACTGCCAGCATTCCCAGATGCCCTTGGGGAGGCCCTTCGGAGGTGGCACTTCCTCTCCAGCCTGGATGCTGCCCCTGAGTCCTGGGAGAGGGAGCCCCGGGCCTCTCTGAGCTGCCTGGGGTCTTAGAGAATTGAAGCCTTCTTCTCCACCCTCCACTGGCAAGACCTGAGCCCCCTGCCTGCTGCCTGATGCGTGTGCACGCACTCACCCCCTCCCTGACCTCTGTCCGTCACTCTCCTGCATCCGTGTGCCTTCCCGTCCAGGCGTCTGTGTGTCCGTGTGTCTGTCTCCCTGTGCATGTGGCTGGCAGAGATGCAGCGGCGTGCATGCAGGCCCGGAGCTGGGCTTGCAGCATCAGAGAGGCGGCCAAGGCCAGGCTGCTGACAGCAGGCCTTCCCTCTCCCCGGTCATTGGTGCAGGTGTGCTGAGGACCACGAAGGCGGTCTGTTAGCTTTGGAGCCGATGCCGACTTTTGGGAAGGGGCTGGACCTCCGCAGAGCAGCTGAGGAAGCATTTGAAGTTAAAGATGTGCTTAATTCCACCTTAGATTCTGAGGCTTTAAAACATACACTGTGCAGGCAGGCTAAGAACCAGGTAGGTACCCGCCAGAGCCCCTCCCCCACCCCACCTGGCCTCCTCAGCCAGAGGACAGCCAGCACTCCTCTCCCGCCGTGGCCCTCCTAGGCCTGAGGAAGCTCTGGTCACGCAAACGCCCCCACGCTGCATCCTCCAGAGAGGCCCCAGCGACCACCGCCCTCCCGCAAGCTGGGGCGCAGCAGGGAGGGGCTGAGAGCCGATGACCCTGGCAGGACCCTCACGAGGGAGCTCACTCATGGACACGGGCAGCTCACCTTCCTGTGGTCCTCAGTGGGAAAGGTCTGTGAGCAGGTTTCTGGCCCGCCCAGCCGCCTTCGTCTCCCTCCCTCTCTGATCTGGGCCCCAGTGGCCTGCAGCCCGGGCTTTTCCCGGGGGAAGAGCTGTCCAGCCGGGCAGTCTCTGCTTCCCAGCTGGAGCAATGAGGTCAGCGAGGGTGCCAGGGTTTTGGCCCCAGGCGCTTCTCGGCTTCTCTCCTCAGGGTAGGTGGCCCCAGGGCCCTGCTCCCGCATTTCTCTCCAGTCTGTAGGGACTCAGGGTCTCATTCAGCACTCTACAGCCCTCCCAGAGGGAACAGGCCCGCCCCAGGTCTCAGCAAAAGCCGTCTGCGTGTCTGTCTTTGTCTTTTTACTAATTCTGTCTGGAGTGTTAACTCGGGTAGGACAGTGCTGGGCTTCCCCACCTTCCCTGCCCTTAACCCACACACGATGCTCCCCAGGTCCCATCCCCACCTGCCCTGTGCTGGGGGCAGAAGGATGTCCCATGAACTAACGCCTGGAAACACATCTGTACTTCCTAAGAATCCCATTGGCCCAGAAACGCTGCACATCCCTGTCCCAGAGGCAGCTCTTTGG	benign	1,025
Variant on chromosome 1, at position 3825835, affecting CEP104 (centrosomal protein 104): is it benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Intellectual_developmental_disorder,_autosomal_recessive_77', 'Joubert_syndrome_25', 'Joubert_syndrome_and_related_disorders']	ATCGGGCAGGGGCCACTGTCAAGGATGGGGAAGCTACGGTCGGCCTGAGTGTGAAGCTTGGATGAGGGCGCAGAGTGGCTCAGTGGTTACAGTGTGGCCCAAGGTTGAAATTGTGGCTCCCCACTATTTCTAAGAATGCACACAGAAACAGGACCACAGAAAAGAATTTTAAGAGATTCTCTCGCTACGTTGGTGTCTCTGGCAGGAATGACTTGTATATACTCTATAACTTCAGGCCGCAGGACTTGACACACTGTGAGCCAGTTCAACCTCTTTTCTTCATAAATTACCCAGTCTTAGGGATATATATATTTTTTGAGATGGAGTTTCGCTCCTGTTGCCCAGGCTGGAGTGCCATGGTGTGATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACAGGCATACACCACCACGCCTGGCTAATTCTGTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCCAAGTGCTAGGATTACAGGCGTGAGCCACCTGCCCAGCCAGGTATTTCTCTATAGTAATGCAAGAAAGGCCTAATATAGGGGATGGGGAAGACTTGTTACACAGGACACGAATAGCATGAACCATGAAAAAGACTGGCAAGGTGGGCAATGCTAACATTAAAAATGCGTCTCTTCCTCAAGACACTTCAGACAGCGAAGACTGCATGCTGTGGAGTGGGAGCAGATGGTCACAATTCATGCGACTGACCAACCACTCACATCCACGTGTATAAAGAACGGCCCCAAATCAATAAAAACAGATGGACAACCCGAGGGAAACCGGTGAGAAACCAGGTGCTTTGCAGGACAGCCAAGGCCTGCAGACAAAAGGACAGGCACTCCACCTCATCTTCACCAGGGACAGGCACAGGGGGAACTCACCAAGACAGCAGGAAGCATGGCCGCAGTGCCACTGTGGGAAGGGGGCAGTGGCACGGTGGGAAGGGGGCAGTGGCACCGTGGGAAGGGAGGCAGTGGCACCGTGGGAAGGGCGGCAGTGGCACCGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGACAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGAGCAGTGGCACTGTGGGAAGGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGCCTGTGCTGCTGGCAGTGGTGCCCAGGCACAACCCCTTTGGAGCACTCCTGGGCAGCCCCACTGAGCATCAGCACACCTGGCAATCCCACAACACATTGTGAACCCAAGAAAGTGCATTCCTGTGCATCCTGGAAGACACCAGAACGCTGTGGCAACATTGTTTATCATGGTCCCAAACTGGACGCAGCCCTGGCGCACAGCGGAAGGTGGATGAAGGTGCTGTGGTCCATTCAAGCAGTGGACACTATAAAGCAAGAAATCCAACATGACGCCACATGGTTCCGTTTCTACAAAGCTCAAAGAGCAAGGAGGACCCATTTGTGGTGTCAGAAATCAGACCCCTGCTGACTCTGGAAGGAGCCCCGAGGGGAGGTGGCGGCACAGCATGTTTCCGGTTCACTGGGCTGTCTGTCATATGGAATGACTCGCACGCATTTGCGGGTGTGTGCTTGGCTTCAGTTACTTTTCTCGCAACCTCTCCTCTGAAAATACTAAGACTTGGGACAGCTTTTTGACTCGGCCTTTCAACAGCCAGGTGTTCCCGCTCATGCAAGTAGCTGGCTGCTGTGCCGCTGGCCTGACCTGTTTGCAGTGGTCACATCTTGTCAGCATGAGACAGTGCTTCCAGTAGTGGAGATCCAGACCTTCCTCTGTGAAGGATTCACTCCTTTCCCCACAAAAAATACACAAACTGAAAGCAAAGCAAAGCAGGAAATAAAGGTAAGGATCTAGTTCCACTGATGGCCGTTCCGCTCCCACGTCACGAGGAAATTCTGAATTTCCCCAGTCCCTGTGATGTGTGCACTTTCCCTCTCATCTGGAACTGCCTCAGTTTGCTCTGCAGGGCCCGGGCTGGGCCTCCCTTGCAGGTGGCAGAGGAGGCTGGGTGTGCCATGTGTTAAAGCACGATAGGAAAGTCCTCACCAAGGAGGTGCCTGAAATCAACGGGCGAACGATCCTTCTGAAATTTCACTCAGCATCGTCAAGCAGAAAGGATATTTTAAGTTACAATAAACAGAGGGAAAGTTGTCTTGACTGACTCGGAGTGGATGCTGGTTAGTGCAGAAGGCACATTTCCTACCTTTTATGATGACTACGAAGGGCCAACTAGGGAGGACGCATTCCCTTTCCAGGGTTTCTGTGTGGCTGGTTGCCCTGACCATCGTACAATGGGTGGAAGACAGCGCGACTTACTTATCTAGATAGTGCTCATCCGGGATTCCCAGAGCTTCAGCAGGGGCTGCTTTCCCTCCTTGAATGTCTGAAGAGATTAAAACAATTTAAATAACTTTTTATAGAAATTATTTTCAAAATTTTAGTAAGCAGTTTGATGTGAGCTCTAAAACGATTATACAAGTAAAAAGGTAGCATGTTTTCCATTCAGCTGGGAGATGGCTGAGGTGCAGCAGGCGTGCAGTGATACTTGCTGAATGGACAGAAGCCGTTCCCACATGGAGCTTCCATGACATGCATTTACACACCCCGATTCTTTACACACCCCAGTTCTTTGTGCACCCCAATTCTTTACATACCCTGATTCTTTGGCTTCACAGCATCACTTTCTTTTTCCTAAGACACAGAAACAGTGAGGTCAGGGGCAAAGGGCTGCAGTGTGAGTGAGTGAGAGCCTGTTGAAGATATGTTTTCATCACGAAAGCACATTTCTGGGTTTTGTTTTAGAATTTCTACTGGCTGGCAAGGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGTGAGTGGTGGATTGCTTGAGCTCAGGAGTTAAGACCAGCCTGGGCAACATGGCAAACAAAACCCTGTCTCTACAAAAAGTACAAAACTTAGCTGGGTGTGGTGGCGTGCCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGAGGGAGGATCACTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATCATGCCACTGCAGTTTCTCTCAAACTCAACCACTGACTGTGGAAAACACATGCAGAAGTGCAATTCTAGTTCCACAGACACCCACCCTGCCCCTAAAAAGAGCACAATTTTGTTCTTATTATCATTATTTTTAGACAGGGTCTCACTCTGTTGCCTAGGTTGGAAGTGGTACAAACACAACTCACTGCAGCTTTGGCCTCCTGGGTGCAAGCCATCCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCATGTCTGGCTAAGTTTTTTTTTTAAGTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTTCTGAAATCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGCAATTACAGGCATGAGTCACTGCGTCTGGCCGAGAGTATGATTTTAGAACCAGAAAAGGACTTAATATGTAAATTCTGAAAGTTCTGGAGATGGATGGTGGCGATGGTTGCACAACAATGTGAGAGCACTCCATGCCACCACAGTGTGCACTGAAAATGGTAAGATTTACACTCTGTGCATTTTACCCCAACAAAAAAAGAGAAAAATCCATCCCATCCCGTCATTCTCCTGGGAGAGGCCTTCACCAGGCCCTGTGTGGGGCGCAGGTCTGCGCTGGCCTCGAGGCCCCCACAACCCATGGCCCCCAGCACCCCGCAGCACAGACCCACTGCCTGGGTCTTTCTCCCTCGTCTGCTCCTCCCTGGAGCCCCAGCTCCATGAGGGTGGGACTTT	ATCGGGCAGGGGCCACTGTCAAGGATGGGGAAGCTACGGTCGGCCTGAGTGTGAAGCTTGGATGAGGGCGCAGAGTGGCTCAGTGGTTACAGTGTGGCCCAAGGTTGAAATTGTGGCTCCCCACTATTTCTAAGAATGCACACAGAAACAGGACCACAGAAAAGAATTTTAAGAGATTCTCTCGCTACGTTGGTGTCTCTGGCAGGAATGACTTGTATATACTCTATAACTTCAGGCCGCAGGACTTGACACACTGTGAGCCAGTTCAACCTCTTTTCTTCATAAATTACCCAGTCTTAGGGATATATATATTTTTTGAGATGGAGTTTCGCTCCTGTTGCCCAGGCTGGAGTGCCATGGTGTGATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACAGGCATACACCACCACGCCTGGCTAATTCTGTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCCAAGTGCTAGGATTACAGGCGTGAGCCACCTGCCCAGCCAGGTATTTCTCTATAGTAATGCAAGAAAGGCCTAATATAGGGGATGGGGAAGACTTGTTACACAGGACACGAATAGCATGAACCATGAAAAAGACTGGCAAGGTGGGCAATGCTAACATTAAAAATGCGTCTCTTCCTCAAGACACTTCAGACAGCGAAGACTGCATGCTGTGGAGTGGGAGCAGATGGTCACAATTCATGCGACTGACCAACCACTCACATCCACGTGTATAAAGAACGGCCCCAAATCAATAAAAACAGATGGACAACCCGAGGGAAACCGGTGAGAAACCAGGTGCTTTGCAGGACAGCCAAGGCCTGCAGACAAAAGGACAGGCACTCCACCTCATCTTCACCAGGGACAGGCACAGGGGGAACTCACCAAGACAGCAGGAAGCATGGCCGCAGTGCCACTGTGGGAAGGGGGCAGTGGCACGGTGGGAAGGGGGCAGTGGCACCGTGGGAAGGGAGGCAGTGGCACCGTGGGAAGGGCGGCAGTGGCACCGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGACAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGAGCAGTGGCACTGTGGGAAGGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGCCTGTGCTGCTGGCAGTGGTGCCCAGGCACAACCCCTTTGGAGCACTCCTGGGCAGCCCCACTGAGCATCAGCACACCTGGCAATCCCACAACACATTGTGAACCCAAGAAAGTGCATTCCTGTGCATCCTGGAAGACACCAGAACGCTGTGGCAACATTGTTTATCATGGTCCCAAACTGGACGCAGCCCTGGCGCACAGCGGAAGGTGGATGAAGGTGCTGTGGTCCATTCAAGCAGTGGACACTATAAAGCAAGAAATCCAACATGACGCCACATGGTTCCGTTTCTACAAAGCTCAAAGAGCAAGGAGGACCCATTTGTGGTGTCAGAAATCAGACCCCTGCTGACTCTGGAAGGAGCCCCGAGGGGAGGTGGCGGCACAGCATGTTTCCGGTTCACTGGGCTGTCTGTCATATGGAATGACTCGCACGCATTTGCGGGTGTGTGCTTGGCTTCAGTTACTTTTCTCGCAACCTCTCCTCTGAAAATACTAAGACTTGGGACAGCTTTTTGACTCGGCCTTTCAACAGCCAGGTGTTCCCGCTCATGCAAGTAGCTGGCTGCTGTGCCGCTGGCCTGACCTGTTTGCAGTGGTCACATCTTGTCAGCATGAGACAGTGCTTCCAGTAGTGGAGATCCAGACCTTCCTCTGTGAAGGATCACTCCTTTCCCCACAAAAAATACACAAACTGAAAGCAAAGCAAAGCAGGAAATAAAGGTAAGGATCTAGTTCCACTGATGGCCGTTCCGCTCCCACGTCACGAGGAAATTCTGAATTTCCCCAGTCCCTGTGATGTGTGCACTTTCCCTCTCATCTGGAACTGCCTCAGTTTGCTCTGCAGGGCCCGGGCTGGGCCTCCCTTGCAGGTGGCAGAGGAGGCTGGGTGTGCCATGTGTTAAAGCACGATAGGAAAGTCCTCACCAAGGAGGTGCCTGAAATCAACGGGCGAACGATCCTTCTGAAATTTCACTCAGCATCGTCAAGCAGAAAGGATATTTTAAGTTACAATAAACAGAGGGAAAGTTGTCTTGACTGACTCGGAGTGGATGCTGGTTAGTGCAGAAGGCACATTTCCTACCTTTTATGATGACTACGAAGGGCCAACTAGGGAGGACGCATTCCCTTTCCAGGGTTTCTGTGTGGCTGGTTGCCCTGACCATCGTACAATGGGTGGAAGACAGCGCGACTTACTTATCTAGATAGTGCTCATCCGGGATTCCCAGAGCTTCAGCAGGGGCTGCTTTCCCTCCTTGAATGTCTGAAGAGATTAAAACAATTTAAATAACTTTTTATAGAAATTATTTTCAAAATTTTAGTAAGCAGTTTGATGTGAGCTCTAAAACGATTATACAAGTAAAAAGGTAGCATGTTTTCCATTCAGCTGGGAGATGGCTGAGGTGCAGCAGGCGTGCAGTGATACTTGCTGAATGGACAGAAGCCGTTCCCACATGGAGCTTCCATGACATGCATTTACACACCCCGATTCTTTACACACCCCAGTTCTTTGTGCACCCCAATTCTTTACATACCCTGATTCTTTGGCTTCACAGCATCACTTTCTTTTTCCTAAGACACAGAAACAGTGAGGTCAGGGGCAAAGGGCTGCAGTGTGAGTGAGTGAGAGCCTGTTGAAGATATGTTTTCATCACGAAAGCACATTTCTGGGTTTTGTTTTAGAATTTCTACTGGCTGGCAAGGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGTGAGTGGTGGATTGCTTGAGCTCAGGAGTTAAGACCAGCCTGGGCAACATGGCAAACAAAACCCTGTCTCTACAAAAAGTACAAAACTTAGCTGGGTGTGGTGGCGTGCCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGAGGGAGGATCACTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATCATGCCACTGCAGTTTCTCTCAAACTCAACCACTGACTGTGGAAAACACATGCAGAAGTGCAATTCTAGTTCCACAGACACCCACCCTGCCCCTAAAAAGAGCACAATTTTGTTCTTATTATCATTATTTTTAGACAGGGTCTCACTCTGTTGCCTAGGTTGGAAGTGGTACAAACACAACTCACTGCAGCTTTGGCCTCCTGGGTGCAAGCCATCCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCATGTCTGGCTAAGTTTTTTTTTTAAGTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTTCTGAAATCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGCAATTACAGGCATGAGTCACTGCGTCTGGCCGAGAGTATGATTTTAGAACCAGAAAAGGACTTAATATGTAAATTCTGAAAGTTCTGGAGATGGATGGTGGCGATGGTTGCACAACAATGTGAGAGCACTCCATGCCACCACAGTGTGCACTGAAAATGGTAAGATTTACACTCTGTGCATTTTACCCCAACAAAAAAAGAGAAAAATCCATCCCATCCCGTCATTCTCCTGGGAGAGGCCTTCACCAGGCCCTGTGTGGGGCGCAGGTCTGCGCTGGCCTCGAGGCCCCCACAACCCATGGCCCCCAGCACCCCGCAGCACAGACCCACTGCCTGGGTCTTTCTCCCTCGTCTGCTCCTCCCTGGAGCCCCAGCTCCATGAGGGTGGGACTTTN	pathogenic	1,089
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 3837356, gene CEP104 (centrosomal protein 104). What disease(s) is it linked to if pathogenic?	pathogenic; ['Intellectual_developmental_disorder,_autosomal_recessive_77', 'Joubert_syndrome_25', 'Joubert_syndrome_and_related_disorders']	TTAAAATATAAAAAGTATTAAATTCTCCAAGAGAAATATTTTAAAGCTGAGAACGAGGGAAAACCCTACTCATTTCTTTTTATTTTGAGACAAACTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGGCTCACTGCAACCTCTGTCCCCCTGCGGGTTCAAGCAATTCTCCTGCCTCAGTCTTCCAGCTAGCTGGGATTACAGGTGCCTGACACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCGCCTGGCCAACTCTACTCATTTCTATAAGGAGATACTTCCATCTTTTGCTATGCCATCCTTTTGCGCTGGAATTAGCTGGTATTCAGAAGGGAGCAGTTGTTTAATACAAGCTCCATGAATGCCAGAAGGAAACACCCAGGCTGAAATGAGTACTCACTGATACATCTTAGCTCATGTTTTTGCTGTTTCACATAATTTATAATTTACAGAAGGGCAGGCACGGTGGCTAATGTTTGTAATTCCAGCACTTTGGGAGGCCAAGGCCAGGAGTTCAAGGCTATAGTGAGTTATGATCACGCCACTGTACTCCACCCTGGGTGACAGAGTGACACTCTGTTTCATAAAAAAAAAAAAAAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACTCTATCTCTACTAAAAAAAAATTACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTAGGAGAACAGGGTGAAGCCAGGAGGCGGAGCTTGCAGTGAGCGGAGATCTTGCCACTGCACTCCAGCCTGGGTGAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTTAACAAAAGACTTTCCAATTCAGGAAGAACAAAGGGAAGTCAACAATATTACAAATGCAAAGCCGTGGGCGTTTTCCCTCCTTTATGTGTAAGTACACAGAGGTGTGCGTACCATATAGACTAGCCTCCCCTCTGCCACCCCGTTTTTTTTTTTTTTTTTTTTTTTTACCAAGGTTTCTCCCAACACATCGATGGCAGAGCTGGCTTCTCTCAAGGCCTTCTCGGTTAAGGGCTCTGGCTCCCCTAACATGCCTCCCCTCCGAGCATCGCTGATGTCTGCATTACTCATTTCCGGCTCCACCACTGCCTCCCCATAATGCTTACGAATAGCTGGAAGAGGCCGCTCATCGTAGGGCAGGGACTCTGCCTGCAGTGAGTGAAGGAGAGAGGAAAGTGCTGGGGAGCTCCATAGGTCACATTCTCCAGTGCAACTCTCACTGGCAGGCTTACTGCGCTTACTTACCTGATCTGAAAGATGTTATTTTGCTAAATATCAGTATCATCAGATTAGAATAATTTATACAACAAATAGGATGTAATTGAAAAGATTAGATGAGGCTTTCTATTACTTTCTAAACTCATTACAGACCTAATAAAAAAAAGCAAGGTAGATTCCACCTCAATGACTGTTTACTGGTAGCAATTTCAGTTCAACTGACATGGAGACTACTAAAGTAAAGGCTATTACATCTTTTTTTCTGACAAGATCTCTGATATTTTCTTAGTTTATTGCTTAGAAATAAGCATCAAGCCTGATTTTAATAAACATGCTCACAAGGTGTCATTAGGCCTATTCCTTATGTGGCTATGCTCTCACTCAGCACTATGGCTCCTAGAATGGAACAGAGGTGGGTCTGGCTGGGGAGCACTCATGCACCCCATGCATGGGAACAGCACCTGGCACAACACATGTCCTTTACAAATACCCAAATAAATTGAACGCCAATCTGAAACAGAATTACCTACATTGATCTTTGGATGAGGATCTGTGGCAGGGAGTAACGGGTCTACTGCAGAATGCTGAGGAGAAATAGTTAGAGAATATGATGAAGGCTTTTCCTGAAGGAAAGGTTCTGCAAACTGGTTTTCTGTTCCTCTTTCTTCCAGTTGTGGTAGTGAGGGCATTGGCTTTTGGTGGCAAGGACTGCCAGAACGAGCGAGGGGCTGGAGGGGCAAATCAAAAGGTCTTCGCATCTAGAGAACAAAAAGGAACATTTAATTTCAAATGCCACTGCCACGCCAGATATATCTATCTCATTCCTTCAGATGAATAAGACTTTAGAAAGCTGTGCTGGAAGAGGCTCCTTGGCACAATGAAAAATTTCAAAACCAAAGAGAAACTTCCACAGAGTGAAATCTACTTGAAAGTCCCACACAATCAAGTTGCACTCATCTCAGTTGTCTCTCCACATTTCTGTGTTGACTACAAAAGTGACATACACATCCAAAATGCTAGTGAAGGAATGAGCATTTGTGCATGGAGCATGTCCACACATATGTGCCCCTGCAGGAGCACGGTGGTGTGGAGAAAGCACCTGGGCTGGACCCAAGTGGACTTTTATTCAAAATCTGGCACTGCTATTCACTGTGTGTACAAAGGAAAGTGATGTTGTGTCATCCCAACAAGCAAAGCTGACTGACCAGTTGCTGCACACTAGGCATGGTACTGAGTGTTTTGGACAGGTAGGCTCATTAATGCTTACTCTGTTTACCCCCATTTGAAAGCTGATGGAAAACTGAGGCATAAAGCTGATAAGAATTAGTCTGTGATCACAGAGCTGGAATGGTGGTGCCCGGATTTGAACCCAGACAGTCCAGCTCCAGAGTGTGCTCTCTTGTTTTTCAGAGGCAGGGTCTCGCTCCATCACCAAGGCTGGAGTGCAGTGGTGCGATCGTAGCTCACTGCAGCCTCGAACTTCTGGGCCCAAGTGATCCTCCTGTCTCACTCTCCTGAGTAGCTAGGACTACAGGTGTGTGCCACCAGGCCTGGCTATTACTTACTTTTTGTAGAGACAGGGTCTCTCTATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAACAATCCTCCAGCCTTGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTGAGAGTGTGCACTCTCAATCACTATTCCGTATCTCAGAACCTTCATTTCCTAATCTGTAACGTGGGCTGAGTGCCCCATTTGCATGAGTTCTAAAATCAGAGGCAGAGCACCTTATGGGAAATATGTTCTCAATACACCGAAGCTGTTAGCATTACGTTCTCACTTGATCCTTACAACACTGAGGGGTCAGTGGGGCAGGGTCATCACTGCCTTTTCCAAATAAGGAAGCAGCTGGAGAGATGAAGGGATGCAGCAGAAAAGCAGCAGGGCCTCGGTTTTCCTGACCCCGGTTTGTTCCCTTTCCCACGACTGTGAGTCTCCTGAAAGAACATGCTGAGGCAAAGCCTCCCTGACGTAGGCACAGAGCTGAGGCCATCCATAACTGTCCCCTGAGCACTGCAGAGTGTTTTACACTACACTTCAAAGACATCTATCCACTGTTGTGAACCACACAGTTGAATCTCTGTTCTCCTAGGCTTTCCTCCACTCCGTCTGGGCTCCTGCACCCACCAGCTCGGCATCCAGGAGGCTGTGCAGCTCCAGCTGCTCGTACACCTCGGCACGATACTGCTCCATCTGCTGCTTCTTCTCCTTGGCGAGATCGTAGTCTTCCTTCTCCACGGCACAGCGTTTCTCTACCTCATACCTCCCAAGGCGTTCACCAACCTGAAGCACAAAATATTTGCTTTTTCTTTCAAATTTGGATCAACTCACATCAAATGCAAAGCTAATTTTTAAGAATCACGCGTGAACCGTCTTGCAAGGAGAGGGAGTGAGCACAGGGAAATGGAAGGAATGGGCCACACTCAGCAAAGGTCTGGCTGCTGTTGCTGTATGGGCATTTAATAAGCTCATGGTTTGGTTATGACTTTCAGGATAGCTGGTTTTCCTATTTTCCCATTGGGCTCAGGGTCCTAGTAACGAGGTAGCTGACCCTGACACCTGAACGT	TTAAAATATAAAAAGTATTAAATTCTCCAAGAGAAATATTTTAAAGCTGAGAACGAGGGAAAACCCTACTCATTTCTTTTTATTTTGAGACAAACTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGGCTCACTGCAACCTCTGTCCCCCTGCGGGTTCAAGCAATTCTCCTGCCTCAGTCTTCCAGCTAGCTGGGATTACAGGTGCCTGACACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCGCCTGGCCAACTCTACTCATTTCTATAAGGAGATACTTCCATCTTTTGCTATGCCATCCTTTTGCGCTGGAATTAGCTGGTATTCAGAAGGGAGCAGTTGTTTAATACAAGCTCCATGAATGCCAGAAGGAAACACCCAGGCTGAAATGAGTACTCACTGATACATCTTAGCTCATGTTTTTGCTGTTTCACATAATTTATAATTTACAGAAGGGCAGGCACGGTGGCTAATGTTTGTAATTCCAGCACTTTGGGAGGCCAAGGCCAGGAGTTCAAGGCTATAGTGAGTTATGATCACGCCACTGTACTCCACCCTGGGTGACAGAGTGACACTCTGTTTCATAAAAAAAAAAAAAAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACTCTATCTCTACTAAAAAAAAATTACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTAGGAGAACAGGGTGAAGCCAGGAGGCGGAGCTTGCAGTGAGCGGAGATCTTGCCACTGCACTCCAGCCTGGGTGAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTTAACAAAAGACTTTCCAATTCAGGAAGAACAAAGGGAAGTCAACAATATTACAAATGCAAAGCCGTGGGCGTTTTCCCTCCTTTATGTGTAAGTACACAGAGGTGTGCGTACCATATAGACTAGCCTCCCCTCTGCCACCCCGTTTTTTTTTTTTTTTTTTTTTTTTACCAAGGTTTCTCCCAACACATCGATGGCAGAGCTGGCTTCTCTCAAGGCCTTCTCGGTTAAGGGCTCTGGCTCCCCTAACATGCCTCCCCTCCGAGCATCGCTGATGTCTGCATTACTCATTTCCGGCTCCACCACTGCCTCCCCATAATGCTTACGAATAGCTGGAAGAGGCCGCTCATCGTAGGGCAGGGACTCTGCCTGCAGTGAGTGAAGGAGAGAGGAAAGTGCTGGGGAGCTCCATAGGTCACATTCTCCAGTGCAACTCTCACTGGCAGGCTTACTGCGCTTACTTACCTGATCTGAAAGATGTTATTTTGCTAAATATCAGTATCATCAGATTAGAATAATTTATACAACAAATAGGATGTAATTGAAAAGATTAGATGAGGCTTTCTATTACTTTCTAAACTCATTACAGACCTAATAAAAAAAAGCAAGGTAGATTCCACCTCAATGACTGTTTACTGGTAGCAATTTCAGTTCAACTGACATGGAGACTACTAAAGTAAAGGCTATTACATCTTTTTTTCTGACAAGATCTCTGATATTTTCTTAGTTTATTGCTTAGAAATAAGCATCAAGCCTGATTTTAATAAACATGCTCACAAGGTGTCATTAGGCCTATTCCTTATGTGGCTATGCTCTCACTCAGCACTATGGCTCCTAGAATGGAACAGAGGTGGGTCTGGCTGGGGAGCACTCATGCACCCCATGCATGGGAACAGCACCTGGCACAACACATGTCCTTTACAAATACCCAAATAAATTGAACGCCAATCTGAAACAGAATTACCTACATTGATCTTTGGATGAGGATCTGTGGCAGGGAGTAACGGGTCTACTGCAGAATGCTGAGGAGAAATAGAGAATATGATGAAGGCTTTTCCTGAAGGAAAGGTTCTGCAAACTGGTTTTCTGTTCCTCTTTCTTCCAGTTGTGGTAGTGAGGGCATTGGCTTTTGGTGGCAAGGACTGCCAGAACGAGCGAGGGGCTGGAGGGGCAAATCAAAAGGTCTTCGCATCTAGAGAACAAAAAGGAACATTTAATTTCAAATGCCACTGCCACGCCAGATATATCTATCTCATTCCTTCAGATGAATAAGACTTTAGAAAGCTGTGCTGGAAGAGGCTCCTTGGCACAATGAAAAATTTCAAAACCAAAGAGAAACTTCCACAGAGTGAAATCTACTTGAAAGTCCCACACAATCAAGTTGCACTCATCTCAGTTGTCTCTCCACATTTCTGTGTTGACTACAAAAGTGACATACACATCCAAAATGCTAGTGAAGGAATGAGCATTTGTGCATGGAGCATGTCCACACATATGTGCCCCTGCAGGAGCACGGTGGTGTGGAGAAAGCACCTGGGCTGGACCCAAGTGGACTTTTATTCAAAATCTGGCACTGCTATTCACTGTGTGTACAAAGGAAAGTGATGTTGTGTCATCCCAACAAGCAAAGCTGACTGACCAGTTGCTGCACACTAGGCATGGTACTGAGTGTTTTGGACAGGTAGGCTCATTAATGCTTACTCTGTTTACCCCCATTTGAAAGCTGATGGAAAACTGAGGCATAAAGCTGATAAGAATTAGTCTGTGATCACAGAGCTGGAATGGTGGTGCCCGGATTTGAACCCAGACAGTCCAGCTCCAGAGTGTGCTCTCTTGTTTTTCAGAGGCAGGGTCTCGCTCCATCACCAAGGCTGGAGTGCAGTGGTGCGATCGTAGCTCACTGCAGCCTCGAACTTCTGGGCCCAAGTGATCCTCCTGTCTCACTCTCCTGAGTAGCTAGGACTACAGGTGTGTGCCACCAGGCCTGGCTATTACTTACTTTTTGTAGAGACAGGGTCTCTCTATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAACAATCCTCCAGCCTTGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTGAGAGTGTGCACTCTCAATCACTATTCCGTATCTCAGAACCTTCATTTCCTAATCTGTAACGTGGGCTGAGTGCCCCATTTGCATGAGTTCTAAAATCAGAGGCAGAGCACCTTATGGGAAATATGTTCTCAATACACCGAAGCTGTTAGCATTACGTTCTCACTTGATCCTTACAACACTGAGGGGTCAGTGGGGCAGGGTCATCACTGCCTTTTCCAAATAAGGAAGCAGCTGGAGAGATGAAGGGATGCAGCAGAAAAGCAGCAGGGCCTCGGTTTTCCTGACCCCGGTTTGTTCCCTTTCCCACGACTGTGAGTCTCCTGAAAGAACATGCTGAGGCAAAGCCTCCCTGACGTAGGCACAGAGCTGAGGCCATCCATAACTGTCCCCTGAGCACTGCAGAGTGTTTTACACTACACTTCAAAGACATCTATCCACTGTTGTGAACCACACAGTTGAATCTCTGTTCTCCTAGGCTTTCCTCCACTCCGTCTGGGCTCCTGCACCCACCAGCTCGGCATCCAGGAGGCTGTGCAGCTCCAGCTGCTCGTACACCTCGGCACGATACTGCTCCATCTGCTGCTTCTTCTCCTTGGCGAGATCGTAGTCTTCCTTCTCCACGGCACAGCGTTTCTCTACCTCATACCTCCCAAGGCGTTCACCAACCTGAAGCACAAAATATTTGCTTTTTCTTTCAAATTTGGATCAACTCACATCAAATGCAAAGCTAATTTTTAAGAATCACGCGTGAACCGTCTTGCAAGGAGAGGGAGTGAGCACAGGGAAATGGAAGGAATGGGCCACACTCAGCAAAGGTCTGGCTGCTGTTGCTGTATGGGCATTTAATAAGCTCATGGTTTGGTTATGACTTTCAGGATAGCTGGTTTTCCTATTTTCCCATTGGGCTCAGGGTCCTAGTAACGAGGTAGCTGACCCTGACACCTGAACGTNNNN	pathogenic	1,142
Gene CEP104 (centrosomal protein 104) variant at chromosome 1, position 3847599—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic; ['Joubert_syndrome_25']	GTGAGCCACCATGCCCTGCTAATTTTTGTGTTTTTTTGCAGAGATAGGATTTCACCATGTTGCCCAGGCTGGACTTAACCCCTTTATAACAAACTCTGACCTACACTGTTATCAAATGGGATGATGTATATCAAAGCGTATTAATTGTTAAAATGTTATGCCAATATAAATAATTTTTAATAATTAACAAAGAATTTTAAATAAATTATGTTAGTATTCTAATGCTAACCAAATGGTTATTTTTAACCATTTAAAGCCTGGGCGCGGTGCCTCATGCCTGTAATCCCATCACTATGGGAGGCCAAGGTGGAAGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGTTTGAACCTGTGAGACAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTAGGCAACAAGAGTCAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGTTCAAATCATAATAGCTAAAAACTCCCAAAGTTTTAACATAGCCTCAAAATGAGACATCCACGTGAGATTCAGTATGGAGCTCATCTTTGAAGGATCTTGGGAAATTAGACAATGAAAAGTTAACACAGCTCAGTTCCCAGTTGGTGAGTCTCACCTGAGGTGGGGAGTCACTTTTCCATCCTGCACCCCCAACCACTGTAGACTAACCCCACACCGCTTCCAAAAATGCAAAGGTTCAAGACAGGCACATTTGGGGCAGGAGGGCAGCTGGCACAAACTGGGAAACCGAGCAAGTTTTGAAATGAAATTTTTTAGTCTTTCATGTCAGTGAAGTGCTGCTTTAGATAGTTACTGCTTTTAAATGCAGGGCACATATATTATCATTCATGACGAGATTATCTGAACATAAGGACAATAAATAATCTATTATTTAAAAATCTTTATTAAAAAAACAAAACTCCAAACTGTTTAAAGAAAACCAAGACAACAGCCAGGTCATTGCTGGTAAATACATGCAGGTGGGTGGAGGAAGGAACAGGGTTAAGACTCATTCTTCTGGCTTCCTGGCGTGTTATGCTGCAAGGGGCCAGGCAGCTTAATTGGACCTTTGCGCTCTTGTCCAGCTCACCCGCTTGGTCTAGAGATTTGATTTGCTGGGTGCTCACATTCCTCTTGGAGGGGGCAGGGAGAGTTGTAAATGCTTGTGCTAATTAACAAGATTGCTTTGGACACAATTGATTTCTACTACACTAATCATGTGAGAAAAAGAAAAAAAGAAGGAAAGAAAGGGAGGGAGGAAGGAAGAGATGAAGAATTAGCAGCCTGAAGCTGGAGAGATTCTGGATTACATGCAACATTCATGTGTCCACAATTTCCACCAGGGAATTTACCTTGTGCACGTTGGGAGGGTTTATTTACAACTGTGCTGTCCTACACAAATAGGATGTGAGCCACATATGTCATTAAGGTTAAGTAGGCACATTAAAAAATTTAAAAATGCAATTAATTTTAAAAATATAGGTTAACACAACATATCCAAAATATTATCATTTCATCACATACAATTGACATAAAAGTTCTCATGAACTCTTTCGCGTTCTCCTTTTGTACTGAGTCTCTGAAGCCCACTGTCTGGTGATGCTGGCAGCAGCTCTGGGCACTAGGCCAGTTCGTGGTGGGCACTGGCCACGTGTGCCCAGAGGCTGCTGGATCAGACAGCACAGCTCAGAGAGCTCAGCAGTCTCCCAGAAGAGATCCTCTCTTATAAGATCACCTTGAAAATGCATCTAAGAAAAGATACGTGACCACATAATCCCACAAAGAAGGTAGGGGCAGAATCAAAGGCGAAGCTGCATGCATCTTACCTGATTATATATGTTGTATTTGTTGACATGGTTTTGGTGAAAAATCAGTTTAAGAAATTGTCCTACTGCATCCACATAAACTGATTTTAGTTCCCGGGCTTTGCAACCTGTCTTTTCATTATCACAGAGAGACACGTAGCTGAAAAACAAAACACAACTGAAGAATTTGAAAATGTGCTGTTCAATAAAACTGCTCCCTACTCTGATTGAACTCAATAGGCTCATTTATGTTTATTGTTTTATTTTTTAAAGCTAGACTACCCCTATGCAGGATCAACAGGTTTGAATAAAAGCTAAGTCTAGAATGAAAAACCTAGGAAAAACCCCTAGAACTCAAATTCTAATTAGTATTCTTCTTTTGTTGTTGTTGTTGTTGTTGAGATGGAGTCTTGTTCTGCTACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTCCAACCTCCACCTCCCGGGTTCAAGCAATTCTTCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGACGCTCACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACACGGTTTCACCATGTTGGCCAGATTGGTCATCTAATTAGCATTCTTAAGAAAATTTCCACATCTGAAAAGTAGAGTTGAATAGCAGAATTCATAGAAATTATAGCGCTGCTTTTTAAGCACATTCAATAAGAGGCAGGTGTTAAGAAACTGTGTACTCTTGAACCAAATAGAAGTACATAACACAGGACCAAAAGTTAAGGGACAATTCATTTTTAAGAGCTTTCAGGGCCGAGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCAACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAGCTTTCAGGTAGAATTAGCCTAAAAGCTGCCATGATACATTTTAAATTTCATTCTTACCCAAGTCTTCGAAACCGCTCTGCTTGATAGGGTGCAAAATATTCAGGCAAGCTTTCACTAATGTAGAACTCAATTTTACTTGAAATCATATACTGGTGAGCAAGTAACTGCAGTTTCCTTATTCGACATCTCTCCACCATTTGAAGGACAATTTCTTGTGGAAACTGGCAAAATCTGAAAGCAAACACATTTTTATATTTTCTGAACAACTTCTGCAGAGGGTTTCTAGATGCTAGCATCTCATTCTTGCAGGTAAGAAGCATTAACCACACACCCACTTTGAACAGAACAGTCTGTAGGTACTGATGGTACAAAGATGCCTGCGACATGATTCCTGTTCTCTCGAGCTTTTCTTGTTGGAGCTGAAGCTGGGAATTGAAATTTGACTTGATCTGCCTGTAACCCTATAGGAATCATACTCTTGGCAGCTAGTAAATGGTCTGATGTGAAACCTGCAGTTTTTCATAAGATAAATCAATCTTATGAGGCGGCACTAGTGGGCAGGACGGAGCCAAAGGATTTTCCACAGGAACTCAAATGCTTAAGGGCCCCAAGGTATCAATATTTAAGGAGTGCCTGCCTTTCACGCATAGTGGTCTAGGGAGACAAGCCTATGCTATGGGCCATGCTGGAGCTTCTTTGCTCAAAAGTGACATAACTTTTTTTTTTTTTTTTTTTGGGAAAAGGTCTCGCTCTGTCACCCAGGCTGCAGCGGTGTGATTATGGCTCACTGCATCTTTGATCTCCTGGGCTCAAGTGACCCTCCTACCTCAGCCTCCTGAGGAGTTGGGACCACAGGTGTGTGCCACTGTGCCTGGCTAAAATTTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAGGGGATCCTCCCCCTTCGGCCTCCCAAAGGGCTGTGATTACAGGTGTGAGCCACTGGGCCCAGCCCAAAAGTAACACAACGTATTAAATAACTAAGAGTTGGGTAGAGAATCACAGCAGTCAGCAAAGACCCCACACTGCTTCCAAAAATGCAAAAGTTCAAGACAGGCACATTTGGGGCA	GTGAGCCACCATGCCCTGCTAATTTTTGTGTTTTTTTGCAGAGATAGGATTTCACCATGTTGCCCAGGCTGGACTTAACCCCTTTATAACAAACTCTGACCTACACTGTTATCAAATGGGATGATGTATATCAAAGCGTATTAATTGTTAAAATGTTATGCCAATATAAATAATTTTTAATAATTAACAAAGAATTTTAAATAAATTATGTTAGTATTCTAATGCTAACCAAATGGTTATTTTTAACCATTTAAAGCCTGGGCGCGGTGCCTCATGCCTGTAATCCCATCACTATGGGAGGCCAAGGTGGAAGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGTTTGAACCTGTGAGACAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTAGGCAACAAGAGTCAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGTTCAAATCATAATAGCTAAAAACTCCCAAAGTTTTAACATAGCCTCAAAATGAGACATCCACGTGAGATTCAGTATGGAGCTCATCTTTGAAGGATCTTGGGAAATTAGACAATGAAAAGTTAACACAGCTCAGTTCCCAGTTGGTGAGTCTCACCTGAGGTGGGGAGTCACTTTTCCATCCTGCACCCCCAACCACTGTAGACTAACCCCACACCGCTTCCAAAAATGCAAAGGTTCAAGACAGGCACATTTGGGGCAGGAGGGCAGCTGGCACAAACTGGGAAACCGAGCAAGTTTTGAAATGAAATTTTTTAGTCTTTCATGTCAGTGAAGTGCTGCTTTAGATAGTTACTGCTTTTAAATGCAGGGCACATATATTATCATTCATGACGAGATTATCTGAACATAAGGACAATAAATAATCTATTATTTAAAAATCTTTATTAAAAAAACAAAACTCCAAACTGTTTAAAGAAAACCAAGACAACAGCCAGGTCATTGCTGGTAAATACATGCAGGTGGGTGGAGGAAGGAACAGGGTTAAGACTCATTCTTCTGGCTTCCTGGCGTGTTATGCTGCAAGGGGCCAGGCAGCTTAATTGGACCTTTGCGCTCTTGTCCAGCTCACCCGCTTGGTCTAGAGATTTGATTTGCTGGGTGCTCACATTCCTCTTGGAGGGGGCAGGGAGAGTTGTAAATGCTTGTGCTAATTAACAAGATTGCTTTGGACACAATTGATTTCTACTACACTAATCATGTGAGAAAAAGAAAAAAAGAAGGAAAGAAAGGGAGGGAGGAAGGAAGAGATGAAGAATTAGCAGCCTGAAGCTGGAGAGATTCTGGATTACATGCAACATTCATGTGTCCACAATTTCCACCAGGGAATTTACCTTGTGCACGTTGGGAGGGTTTATTTACAACTGTGCTGTCCTACACAAATAGGATGTGAGCCACATATGTCATTAAGGTTAAGTAGGCACATTAAAAAATTTAAAAATGCAATTAATTTTAAAAATATAGGTTAACACAACATATCCAAAATATTATCATTTCATCACATACAATTGACATAAAAGTTCTCATGAACTCTTTCGCGTTCTCCTTTTGTACTGAGTCTCTGAAGCCCACTGTCTGGTGATGCTGGCAGCAGCTCTGGGCACTAGGCCAGTTCGTGGTGGGCACTGGCCACGTGTGCCCAGAGGCTGCTGGATCAGACAGCACAGCTCAGAGAGCTCAGCAGTCTCCCAGAAGAGATCCTCTCTTATAAGATCACCTTGAAAATGCATCTAAGAAAAGATACGTGACCACATAATCCCACAAAGAAGGTAGGGGCAGAATCAAAGGCGAAGCTGCATGCATCTTACCTGATTATATATGTTGTATTTGTTGACATGGTTTTGGTGAAAAATCAGTTTAAGAAATTGTCCTACTGCATCCACATAAACTGATTTTAGTTCCCGGGCTTTGCAACCTGTCTTTTCATTATCACAGAGACACGTAGCTGAAAAACAAAACACAACTGAAGAATTTGAAAATGTGCTGTTCAATAAAACTGCTCCCTACTCTGATTGAACTCAATAGGCTCATTTATGTTTATTGTTTTATTTTTTAAAGCTAGACTACCCCTATGCAGGATCAACAGGTTTGAATAAAAGCTAAGTCTAGAATGAAAAACCTAGGAAAAACCCCTAGAACTCAAATTCTAATTAGTATTCTTCTTTTGTTGTTGTTGTTGTTGTTGAGATGGAGTCTTGTTCTGCTACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTCCAACCTCCACCTCCCGGGTTCAAGCAATTCTTCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGACGCTCACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACACGGTTTCACCATGTTGGCCAGATTGGTCATCTAATTAGCATTCTTAAGAAAATTTCCACATCTGAAAAGTAGAGTTGAATAGCAGAATTCATAGAAATTATAGCGCTGCTTTTTAAGCACATTCAATAAGAGGCAGGTGTTAAGAAACTGTGTACTCTTGAACCAAATAGAAGTACATAACACAGGACCAAAAGTTAAGGGACAATTCATTTTTAAGAGCTTTCAGGGCCGAGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCAACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAGCTTTCAGGTAGAATTAGCCTAAAAGCTGCCATGATACATTTTAAATTTCATTCTTACCCAAGTCTTCGAAACCGCTCTGCTTGATAGGGTGCAAAATATTCAGGCAAGCTTTCACTAATGTAGAACTCAATTTTACTTGAAATCATATACTGGTGAGCAAGTAACTGCAGTTTCCTTATTCGACATCTCTCCACCATTTGAAGGACAATTTCTTGTGGAAACTGGCAAAATCTGAAAGCAAACACATTTTTATATTTTCTGAACAACTTCTGCAGAGGGTTTCTAGATGCTAGCATCTCATTCTTGCAGGTAAGAAGCATTAACCACACACCCACTTTGAACAGAACAGTCTGTAGGTACTGATGGTACAAAGATGCCTGCGACATGATTCCTGTTCTCTCGAGCTTTTCTTGTTGGAGCTGAAGCTGGGAATTGAAATTTGACTTGATCTGCCTGTAACCCTATAGGAATCATACTCTTGGCAGCTAGTAAATGGTCTGATGTGAAACCTGCAGTTTTTCATAAGATAAATCAATCTTATGAGGCGGCACTAGTGGGCAGGACGGAGCCAAAGGATTTTCCACAGGAACTCAAATGCTTAAGGGCCCCAAGGTATCAATATTTAAGGAGTGCCTGCCTTTCACGCATAGTGGTCTAGGGAGACAAGCCTATGCTATGGGCCATGCTGGAGCTTCTTTGCTCAAAAGTGACATAACTTTTTTTTTTTTTTTTTTTGGGAAAAGGTCTCGCTCTGTCACCCAGGCTGCAGCGGTGTGATTATGGCTCACTGCATCTTTGATCTCCTGGGCTCAAGTGACCCTCCTACCTCAGCCTCCTGAGGAGTTGGGACCACAGGTGTGTGCCACTGTGCCTGGCTAAAATTTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAGGGGATCCTCCCCCTTCGGCCTCCCAAAGGGCTGTGATTACAGGTGTGAGCCACTGGGCCCAGCCCAAAAGTAACACAACGTATTAAATAACTAAGAGTTGGGTAGAGAATCACAGCAGTCAGCAAAGACCCCACACTGCTTCCAAAAATGCAAAAGTTCAAGACAGGCACATTTGGGGCANN	pathogenic	1,164
Determine if the mutation at chromosome 1, position 5865141 in gene NPHP4 (nephrocystin 4) is benign or pathogenic. If pathogenic, what disease(s) is associated?	pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']	TACTACAAAATGACCAGCGCTCGGTCTCTGCTTCCTCAGCCAAGTGCACAGGTCAGCCAGGTGGGCACTGAAGTGAAAGGCTGCAGAGAGGCGGGGAGGACAGCCTGCAGGGCAGGAGGGGCACAGACAGGCCCCAGCTGGGTGCCGCAGGAAGGACGTCACCCTCAAGCCCTCACTGGTAGATGACCTTCACGCAAAATGCCTCTTCGTTTTTGTCCTCATGGTCATTGATGTAGATCAGGATCTCCTCCTCACCCACTCTCTGACTAGGCGCAAACTGCAAGCCGATGGTGTAGGTCTCTCCACCCCCGACCTGGAAATAAGCATCCAAATCCCAGCATCCACCCCCGGGCTGTCCCACGCTCTCACCAGCAACCTCTCTGCATGGTCGTGTTTATTTCCAAGGGGAGCTGACAAGGCAGGGGAGCCCTGCGGGTGCATCCAAGGCCTGCCTTTGACTTCAGCGCCCGGTACAAGGATGGGAACCAGTGCTCAGCCAGTGTGACGCGTTACTTGGACTCGAAGGCACACTTATTTCCGAGACTGAGCTGTCTAACATTACCATGAAAAGCCCTGGGCACAACACCCTTTCCCACACTCAGGAGAAACTTTGCTAAATCTCCAGCTACTAAAGATACAACGGGCCCACCCAACTATGGGATGGTACCTGTCACCGCCCTGGGGCTTTTGGAAGACTGCTGGTGATTTGAGGAACTCGCTCCTAAATGCAGGCTAACTGCCCTCCATTCAGGTCCCCGGGTCTTCCCCTAGGAGTCCCAGGCACAGCCCCACCACACCTGGAAGGAGTCCTCTCTGAACCGCAGCAGCTCCGGGTGGTCGCTGTGCAGGTGGAATGTCCTCCGGGAGGGGTAGGGGTTGGTGTAGGTGATCCTCTTGTTGACACCCTTCCCTTCGCCCGCAGCCAACATGATCTCAAAGGCCTGTGGAGGGAGGGGACAGGGAGACGCTGCGGCCACTCACGGGAACAGCCACTGGCCCTTCCTCCAAGTATTCCCTGAGTCTCCTGTGCACCGTGCACGGGGACCCCCACAGAGATAAGACAGACGCTCTCTGGAGCTTCCATCCGGGAGAGACACAGCACAGGAGCAAACACTCATGCACCCGGCCCTGCTGGGTCAGAACACTGTATCCAGTGGTCCGAGTCACAGGGCCGAGGTGGGGGTCCTGCAGTGCCCTGGTATTGAGCCCCCATCCCCTCAGCCTGTGCCTGCCACACATACAGACCTTGGAGATGAGCGGCTGGCGGCAGCAGAGGCACACGAGCCAGGAGGCCACCAGCTGGTGGCAATCCACGTCCACCAGGTTGAGATGGACAAAGCGGCTGCCGGCCCTAAGGGGCCTCACGCCAACATGCAGGTCCTGCACCCCACGAGGCGGCAGCACGAAGACACCTTTGGGGTCTGTCTTCAAGAGCGAGAGAGGCGGGTCAGAGCACAGCCTCTCAGGATGTGCAAGCAAGGGGCTCCTGGGCGCCTGCAGCCCAATCAGCCAGGGGAGCCCAAGGTCATGGGTGGTTCCGGGGCGGCCAAATCTGAGGCCACAACCAACCCTGACATGACTGTGGCCGCGACTTGGGTCCACACCAGGCAAGTCCCTCCTCTCACACGGCGACTATTCCCTAAGCGCTGCCTCCGCAGACAGAACTGAAGCCATCTTGGGCTTAAAACCCCGGCCAGCTGGTGGCACCAGGGGCCGCCCTCCCACCCCGTCTAACTGTGGCTTCACTAACACCAGAGCTCCTGTCACTGTTCACCTTGCCAGGAATTCTGAACACCGGCCTTTGGGGTTGGTGTGTACGTCACTCACCCCACAATGGCACATCTAACGAAAGGCAACTGCCGAGAGGCCTCTGGTAACAGCGTCTGCGCGCTGGAGGCGCTGGAAAAGCTGCTGTCAGGGCCACCCACTGTGCTCCAGCTGAATGCCCACTGCCCGTCTCCAGGCTGGGGTTGGGGAGAGGCTCAGAACAGCCCCCAGAGAGGCCGTACCTTCAGCTCCTGGGGATGAGAGGTGAAAGCTCTCACTTTCCTCACTGTCTGTGTCCCCCGAAGGACAAGGGACAGGCGGGTCAGCTGGCCTGCGACGCAGGAGACATCCACGCGCTGCAGGGAGTGGAGGTAGACCTGCCACGTCTGTGTGGGTGTCGCCAGCCAGCGATCCCTGCAGTGGGATGGGAGCCATCTGCACTTGTCCCGGAGGACTCAGCACCGGCCCACGAGAGGCCAACAAGGGCTGCCAGGAGCGTGGGCAGACAGGAGGCTGTGCAGGGAAAGCCCCAGAGGACCAGGCCACAGGAGGCAGAGCTGGGGCCACGCAGGGAAAGCCCCGGAGGACCAGGCCCCAGGAGGCAGAGCTAGGGCCTGGTGGCTCCACCCCTGGCTGCCCATCTCCCACCCACAGCAGAGGCTCTCAGGGCGCAGCAGGGCTGCTTAGGAACCACATGTCAAACAAATGACAAGGCACGCTTTGGCCAAACACACATCCTGGACAAGTGTCCACCCCCAATAGGGGTTCTGAGGCTAAGCCAAGGGCAGCGCCACGCAGGAGACAGGGTGGGGCTGGAGGTCATGCCGGCCTGAGCACGGAAGCCCCTGTTAGCATTTTAGGGCCAAGAGCCTGCTGCTTCACAGTCAAATGGGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTAC	TACTACAAAATGACCAGCGCTCGGTCTCTGCTTCCTCAGCCAAGTGCACAGGTCAGCCAGGTGGGCACTGAAGTGAAAGGCTGCAGAGAGGCGGGGAGGACAGCCTGCAGGGCAGGAGGGGCACAGACAGGCCCCAGCTGGGTGCCGCAGGAAGGACGTCACCCTCAAGCCCTCACTGGTAGATGACCTTCACGCAAAATGCCTCTTCGTTTTTGTCCTCATGGTCATTGATGTAGATCAGGATCTCCTCCTCACCCACTCTCTGACTAGGCGCAAACTGCAAGCCGATGGTGTAGGTCTCTCCACCCCCGACCTGGAAATAAGCATCCAAATCCCAGCATCCACCCCCGGGCTGTCCCACGCTCTCACCAGCAACCTCTCTGCATGGTCGTGTTTATTTCCAAGGGGAGCTGACAAGGCAGGGGAGCCCTGCGGGTGCATCCAAGGCCTGCCTTTGACTTCAGCGCCCGGTACAAGGATGGGAACCAGTGCTCAGCCAGTGTGACGCGTTACTTGGACTCGAAGGCACACTTATTTCCGAGACTGAGCTGTCTAACATTACCATGAAAAGCCCTGGGCACAACACCCTTTCCCACACTCAGGAGAAACTTTGCTAAATCTCCAGCTACTAAAGATACAACGGGCCCACCCAACTATGGGATGGTACCTGTCACCGCCCTGGGGCTTTTGGAAGACTGCTGGTGATTTGAGGAACTCGCTCCTAAATGCAGGCTAACTGCCCTCCATTCAGGTCCCCGGGTCTTCCCCTAGGAGTCCCAGGCACAGCCCCACCACACCTGGAAGGAGTCCTCTCTGAACCGCAGCAGCTCCGGGTGGTCGCTGTGCAGGTGGAATGTCCTCCGGGAGGGGTAGGGGTTGGTGTAGGTGATCCTCTTGTTGACACCCTTCCCTTCGCCCGCAGCCAACATGATCTCAAAGGCCTGTGGAGGGAGGGGACAGGGAGACGCTGCGGCCACTCACGGGAACAGCCACTGGCCCTTCCTCCAAGTATTCCCTGAGTCTCCTGTGCACCGTGCACGGGGACCCCCACAGAGATAAGACAGACGCTCTCTGGAGCTTCCATCCGGGAGAGACACAGCACAGGAGCAAACACTCATGCACCCGGCCCTGCTGGGTCAGAACACTGTATCCAGTGGTCCGAGTCACAGGGCCGAGGTGGGGGTCCTGCAGTGCCCTGGTATTGAGCCCCCATCCCCTCAGCCTGTGCCTGCCACACATACAGACCTTGGAGATGAGCGGCTGGCGGCAGCAGAGGCACACGAGCCAGGAGGCCACCAGCTGGTGGCAATCCACGTCCACCAGGTTGAGATGGACAAAGCGGCTGCCGGCCCTAAGGGGCCTCACGCCAACATGCAGGTCCTGCACCCCACGAGGCGGCAGCACGAAGACACCTTTGGGGTCTGTCTTCAAGAGCGAGAGAGGCGGGTCAGAGCACAGCCTCTCAGGATGTGCAAGCAAGGGGCTCCTGGGCGCCTGCAGCCCAATCAGCCAGGGGAGCCCAAGGTCATGGGTGGTTCCGGGGCGGCCAAATCTGAGGCCACAACCAACCCTGACATGACTGTGGCCGCGACTTGGGTCCACACCAGGCAAGTCCCTCCTCTCACACGGCGACTATTCCCTAAGCGCTGCCTCCGCAGACAGAACTGAAGCCATCTTGGGCTTAAAACCCCGGCCAGCTGGTGGCACCAGGGGCCGCCCTCCCACCCCGTCTAACTGTGGCTTCACTAACACCAGAGCTCCTGTCACTGTTCACCTTGCCAGGAATTCTGAACACCGGCCTTTGGGGTTGGTGTGTACGTCACTCACCCCACAATGGCACATCTAACGAAAGGCAACTGCCGAGAGGCCTCTGGTAACAGCGTCTGCGCGCTGGAGGCGCTGGAAAAGCTGCTGTCAGGGCCACCCACTGTGCTCCAGCTGAATGCCCACTGCCCGTCTCCAGGCTGGGGTTGGGGAGAGGCTCAGAACAGCCCCCAGAGAGGCCGTACCTTCAGCTCCTGGGGATGAGAGGTGAAAGCTCTCACTTTCCTGTCTGTGTCCCCCGAAGGACAAGGGACAGGCGGGTCAGCTGGCCTGCGACGCAGGAGACATCCACGCGCTGCAGGGAGTGGAGGTAGACCTGCCACGTCTGTGTGGGTGTCGCCAGCCAGCGATCCCTGCAGTGGGATGGGAGCCATCTGCACTTGTCCCGGAGGACTCAGCACCGGCCCACGAGAGGCCAACAAGGGCTGCCAGGAGCGTGGGCAGACAGGAGGCTGTGCAGGGAAAGCCCCAGAGGACCAGGCCACAGGAGGCAGAGCTGGGGCCACGCAGGGAAAGCCCCGGAGGACCAGGCCCCAGGAGGCAGAGCTAGGGCCTGGTGGCTCCACCCCTGGCTGCCCATCTCCCACCCACAGCAGAGGCTCTCAGGGCGCAGCAGGGCTGCTTAGGAACCACATGTCAAACAAATGACAAGGCACGCTTTGGCCAAACACACATCCTGGACAAGTGTCCACCCCCAATAGGGGTTCTGAGGCTAAGCCAAGGGCAGCGCCACGCAGGAGACAGGGTGGGGCTGGAGGTCATGCCGGCCTGAGCACGGAAGCCCCTGTTAGCATTTTAGGGCCAAGAGCCTGCTGCTTCACAGTCAAATGGGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACNNNN	pathogenic	1,192
Does the genetic variant at chromosome 1, position 5866476, impacting gene NPHP4 (nephrocystin 4), appear benign or pathogenic? If pathogenic, name the associated disease(s).	benign	AAAGCGGCTGCCGGCCCTAAGGGGCCTCACGCCAACATGCAGGTCCTGCACCCCACGAGGCGGCAGCACGAAGACACCTTTGGGGTCTGTCTTCAAGAGCGAGAGAGGCGGGTCAGAGCACAGCCTCTCAGGATGTGCAAGCAAGGGGCTCCTGGGCGCCTGCAGCCCAATCAGCCAGGGGAGCCCAAGGTCATGGGTGGTTCCGGGGCGGCCAAATCTGAGGCCACAACCAACCCTGACATGACTGTGGCCGCGACTTGGGTCCACACCAGGCAAGTCCCTCCTCTCACACGGCGACTATTCCCTAAGCGCTGCCTCCGCAGACAGAACTGAAGCCATCTTGGGCTTAAAACCCCGGCCAGCTGGTGGCACCAGGGGCCGCCCTCCCACCCCGTCTAACTGTGGCTTCACTAACACCAGAGCTCCTGTCACTGTTCACCTTGCCAGGAATTCTGAACACCGGCCTTTGGGGTTGGTGTGTACGTCACTCACCCCACAATGGCACATCTAACGAAAGGCAACTGCCGAGAGGCCTCTGGTAACAGCGTCTGCGCGCTGGAGGCGCTGGAAAAGCTGCTGTCAGGGCCACCCACTGTGCTCCAGCTGAATGCCCACTGCCCGTCTCCAGGCTGGGGTTGGGGAGAGGCTCAGAACAGCCCCCAGAGAGGCCGTACCTTCAGCTCCTGGGGATGAGAGGTGAAAGCTCTCACTTTCCTCACTGTCTGTGTCCCCCGAAGGACAAGGGACAGGCGGGTCAGCTGGCCTGCGACGCAGGAGACATCCACGCGCTGCAGGGAGTGGAGGTAGACCTGCCACGTCTGTGTGGGTGTCGCCAGCCAGCGATCCCTGCAGTGGGATGGGAGCCATCTGCACTTGTCCCGGAGGACTCAGCACCGGCCCACGAGAGGCCAACAAGGGCTGCCAGGAGCGTGGGCAGACAGGAGGCTGTGCAGGGAAAGCCCCAGAGGACCAGGCCACAGGAGGCAGAGCTGGGGCCACGCAGGGAAAGCCCCGGAGGACCAGGCCCCAGGAGGCAGAGCTAGGGCCTGGTGGCTCCACCCCTGGCTGCCCATCTCCCACCCACAGCAGAGGCTCTCAGGGCGCAGCAGGGCTGCTTAGGAACCACATGTCAAACAAATGACAAGGCACGCTTTGGCCAAACACACATCCTGGACAAGTGTCCACCCCCAATAGGGGTTCTGAGGCTAAGCCAAGGGCAGCGCCACGCAGGAGACAGGGTGGGGCTGGAGGTCATGCCGGCCTGAGCACGGAAGCCCCTGTTAGCATTTTAGGGCCAAGAGCCTGCTGCTTCACAGTCAAATGGGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGATAGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCACAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACAC	AAAGCGGCTGCCGGCCCTAAGGGGCCTCACGCCAACATGCAGGTCCTGCACCCCACGAGGCGGCAGCACGAAGACACCTTTGGGGTCTGTCTTCAAGAGCGAGAGAGGCGGGTCAGAGCACAGCCTCTCAGGATGTGCAAGCAAGGGGCTCCTGGGCGCCTGCAGCCCAATCAGCCAGGGGAGCCCAAGGTCATGGGTGGTTCCGGGGCGGCCAAATCTGAGGCCACAACCAACCCTGACATGACTGTGGCCGCGACTTGGGTCCACACCAGGCAAGTCCCTCCTCTCACACGGCGACTATTCCCTAAGCGCTGCCTCCGCAGACAGAACTGAAGCCATCTTGGGCTTAAAACCCCGGCCAGCTGGTGGCACCAGGGGCCGCCCTCCCACCCCGTCTAACTGTGGCTTCACTAACACCAGAGCTCCTGTCACTGTTCACCTTGCCAGGAATTCTGAACACCGGCCTTTGGGGTTGGTGTGTACGTCACTCACCCCACAATGGCACATCTAACGAAAGGCAACTGCCGAGAGGCCTCTGGTAACAGCGTCTGCGCGCTGGAGGCGCTGGAAAAGCTGCTGTCAGGGCCACCCACTGTGCTCCAGCTGAATGCCCACTGCCCGTCTCCAGGCTGGGGTTGGGGAGAGGCTCAGAACAGCCCCCAGAGAGGCCGTACCTTCAGCTCCTGGGGATGAGAGGTGAAAGCTCTCACTTTCCTCACTGTCTGTGTCCCCCGAAGGACAAGGGACAGGCGGGTCAGCTGGCCTGCGACGCAGGAGACATCCACGCGCTGCAGGGAGTGGAGGTAGACCTGCCACGTCTGTGTGGGTGTCGCCAGCCAGCGATCCCTGCAGTGGGATGGGAGCCATCTGCACTTGTCCCGGAGGACTCAGCACCGGCCCACGAGAGGCCAACAAGGGCTGCCAGGAGCGTGGGCAGACAGGAGGCTGTGCAGGGAAAGCCCCAGAGGACCAGGCCACAGGAGGCAGAGCTGGGGCCACGCAGGGAAAGCCCCGGAGGACCAGGCCCCAGGAGGCAGAGCTAGGGCCTGGTGGCTCCACCCCTGGCTGCCCATCTCCCACCCACAGCAGAGGCTCTCAGGGCGCAGCAGGGCTGCTTAGGAACCACATGTCAAACAAATGACAAGGCACGCTTTGGCCAAACACACATCCTGGACAAGTGTCCACCCCCAATAGGGGTTCTGAGGCTAAGCCAAGGGCAGCGCCACGCAGGAGACAGGGTGGGGCTGGAGGTCATGCCGGCCTGAGCACGGAAGCCCCTGTTAGCATTTTAGGGCCAAGAGCCTGCTGCTTCACAGTCAAATGGGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCACACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGATAGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCACAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACACN	benign	1,201
A mutation at chromosome position 5867081 on chromosome 1 in gene NPHP4 (nephrocystin 4): benign or pathogenic? If pathogenic, which disease(s) is it linked to?	pathogenic; ['Nephronophthisis', 'Senior-Loken_syndrome_4']	GAATGCCCACTGCCCGTCTCCAGGCTGGGGTTGGGGAGAGGCTCAGAACAGCCCCCAGAGAGGCCGTACCTTCAGCTCCTGGGGATGAGAGGTGAAAGCTCTCACTTTCCTCACTGTCTGTGTCCCCCGAAGGACAAGGGACAGGCGGGTCAGCTGGCCTGCGACGCAGGAGACATCCACGCGCTGCAGGGAGTGGAGGTAGACCTGCCACGTCTGTGTGGGTGTCGCCAGCCAGCGATCCCTGCAGTGGGATGGGAGCCATCTGCACTTGTCCCGGAGGACTCAGCACCGGCCCACGAGAGGCCAACAAGGGCTGCCAGGAGCGTGGGCAGACAGGAGGCTGTGCAGGGAAAGCCCCAGAGGACCAGGCCACAGGAGGCAGAGCTGGGGCCACGCAGGGAAAGCCCCGGAGGACCAGGCCCCAGGAGGCAGAGCTAGGGCCTGGTGGCTCCACCCCTGGCTGCCCATCTCCCACCCACAGCAGAGGCTCTCAGGGCGCAGCAGGGCTGCTTAGGAACCACATGTCAAACAAATGACAAGGCACGCTTTGGCCAAACACACATCCTGGACAAGTGTCCACCCCCAATAGGGGTTCTGAGGCTAAGCCAAGGGCAGCGCCACGCAGGAGACAGGGTGGGGCTGGAGGTCATGCCGGCCTGAGCACGGAAGCCCCTGTTAGCATTTTAGGGCCAAGAGCCTGCTGCTTCACAGTCAAATGGGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGATAGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCACAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACACACGCACCCACACACACGCATGCACTCATGCACCCACACATGCACCCATACACATACACATACATGCACACCCACATGCATGCAGGCACACGTGCACACACATGCAAACATGCACCCATGCATGCACACACGCATCCAGCCACAAATGCACACACATGCATGTACACATATACATGCACGCATGCCCCACACACACACATGCACGCCCACATGCATGCACCCACACATGTACACATATGCATGCACCCACATGCACACACGCACACAATGCACACATACATGCACACACATCCACCCACACATGCACACACGCACCCACACACGCATGCACACACATACATGCACACATGCCCCCACACGCACACATATGCACGCCCACATGCATGCACCCACACATGTACACACATGCATGCACCCACATGCACACACACACAATGCACACACACATGCACACACATCCACCCACACATGCACACACACGCACCCATACACACACACATGCACACACATACATGCACACATGCCCCCACACGCACACACATGCATGCCCACATGCATGCACCCACACATGCACACATGCATGCACCCACATGCACACACGCACAA	GAATGCCCACTGCCCGTCTCCAGGCTGGGGTTGGGGAGAGGCTCAGAACAGCCCCCAGAGAGGCCGTACCTTCAGCTCCTGGGGATGAGAGGTGAAAGCTCTCACTTTCCTCACTGTCTGTGTCCCCCGAAGGACAAGGGACAGGCGGGTCAGCTGGCCTGCGACGCAGGAGACATCCACGCGCTGCAGGGAGTGGAGGTAGACCTGCCACGTCTGTGTGGGTGTCGCCAGCCAGCGATCCCTGCAGTGGGATGGGAGCCATCTGCACTTGTCCCGGAGGACTCAGCACCGGCCCACGAGAGGCCAACAAGGGCTGCCAGGAGCGTGGGCAGACAGGAGGCTGTGCAGGGAAAGCCCCAGAGGACCAGGCCACAGGAGGCAGAGCTGGGGCCACGCAGGGAAAGCCCCGGAGGACCAGGCCCCAGGAGGCAGAGCTAGGGCCTGGTGGCTCCACCCCTGGCTGCCCATCTCCCACCCACAGCAGAGGCTCTCAGGGCGCAGCAGGGCTGCTTAGGAACCACATGTCAAACAAATGACAAGGCACGCTTTGGCCAAACACACATCCTGGACAAGTGTCCACCCCCAATAGGGGTTCTGAGGCTAAGCCAAGGGCAGCGCCACGCAGGAGACAGGGTGGGGCTGGAGGTCATGCCGGCCTGAGCACGGAAGCCCCTGTTAGCATTTTAGGGCCAAGAGCCTGCTGCTTCACAGTCAAATGGGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGATAGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCACAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACACACGCACCCACACACACGCATGCACTCATGCACCCACACATGCACCCATACACATACACATACATGCACACCCACATGCATGCAGGCACACGTGCACACACATGCAAACATGCACCCATGCATGCACACACGCATCCAGCCACAAATGCACACACATGCATGTACACATATACATGCACGCATGCCCCACACACACACATGCACGCCCACATGCATGCACCCACACATGTACACATATGCATGCACCCACATGCACACACGCACACAATGCACACATACATGCACACACATCCACCCACACATGCACACACGCACCCACACACGCATGCACACACATACATGCACACATGCCCCCACACGCACACATATGCACGCCCACATGCATGCACCCACACATGTACACACATGCATGCACCCACATGCACACACACACAATGCACACACACATGCACACACATCCACCCACACATGCACACACACGCACCCATACACACACACATGCACACACATACATGCACACATGCCCCCACACGCACACACATGCATGCCCACATGCATGCACCCACACATGCACACATGCATGCACCCACATGCACACACGCACAAN	pathogenic	1,204
A mutation at chromosome position 5867799 on chromosome 1 in gene NPHP4 (nephrocystin 4): benign or pathogenic? If pathogenic, which disease(s) is it linked to?	pathogenic; ['Nephronophthisis_4', 'Senior-Loken_syndrome_4']	GGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGATAGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCACAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACACACGCACCCACACACACGCATGCACTCATGCACCCACACATGCACCCATACACATACACATACATGCACACCCACATGCATGCAGGCACACGTGCACACACATGCAAACATGCACCCATGCATGCACACACGCATCCAGCCACAAATGCACACACATGCATGTACACATATACATGCACGCATGCCCCACACACACACATGCACGCCCACATGCATGCACCCACACATGTACACATATGCATGCACCCACATGCACACACGCACACAATGCACACATACATGCACACACATCCACCCACACATGCACACACGCACCCACACACGCATGCACACACATACATGCACACATGCCCCCACACGCACACATATGCACGCCCACATGCATGCACCCACACATGTACACACATGCATGCACCCACATGCACACACACACAATGCACACACACATGCACACACATCCACCCACACATGCACACACACGCACCCATACACACACACATGCACACACATACATGCACACATGCCCCCACACGCACACACATGCATGCCCACATGCATGCACCCACACATGCACACATGCATGCACCCACATGCACACACGCACAATGCACACATATCCGCCCACACATGCACACACACGCACCCACATGCACACAATGCACACATACATGCACACATATCCACCCACATGCATACACATCCACCCACATGCACACACACACACACACACATGCACACCCACATGCATGCATGCATCCATACATGTACACAGATGCACAAATACAAACATGGATGCACATACACACACACCACCCACACATGCACGCACACACACACATGCATGCACACACACATGCACACACTTCACACCTGCACACACTGAGAAGGAGAGAGTGGGGCAGGGCAAGAATGGAAACAAGATCCTTCCAAATATATCTTGCTTTATAGTTTGATTTTTGACTTACTTGTTTTTAATTTTGAAAACTAAAATAAATAGAAGTGTTAATGTATTAAAAATAAACAAATCTAAGCTTCTATCAAGTTGGTGCTGTAATTATCCAGAGAAGAATTCTTTAAGTAAATGTAAATCACAGGACACAAAGGACCTAAAGACAAATGCACCTTCAGAAATCTTGCACTGACAGATAGTGTCTAGCCCTGGTTGGTACTGATGTTTTGAAATATACACGTACATAAAGATGGCCAGTGGTATTGTAGCCAAAGGGATTTGGCCAGTGTGGTCAGCAGATTGGTTATATACAGAGGAAATTAGGCAAATAAGTAAGCCAAATGCGAGCTAGGTTTCTCATGAGCAGAAATGAGA	GGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCACAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACACACGCACCCACACACACGCATGCACTCATGCACCCACACATGCACCCATACACATACACATACATGCACACCCACATGCATGCAGGCACACGTGCACACACATGCAAACATGCACCCATGCATGCACACACGCATCCAGCCACAAATGCACACACATGCATGTACACATATACATGCACGCATGCCCCACACACACACATGCACGCCCACATGCATGCACCCACACATGTACACATATGCATGCACCCACATGCACACACGCACACAATGCACACATACATGCACACACATCCACCCACACATGCACACACGCACCCACACACGCATGCACACACATACATGCACACATGCCCCCACACGCACACATATGCACGCCCACATGCATGCACCCACACATGTACACACATGCATGCACCCACATGCACACACACACAATGCACACACACATGCACACACATCCACCCACACATGCACACACACGCACCCATACACACACACATGCACACACATACATGCACACATGCCCCCACACGCACACACATGCATGCCCACATGCATGCACCCACACATGCACACATGCATGCACCCACATGCACACACGCACAATGCACACATATCCGCCCACACATGCACACACACGCACCCACATGCACACAATGCACACATACATGCACACATATCCACCCACATGCATACACATCCACCCACATGCACACACACACACACACACATGCACACCCACATGCATGCATGCATCCATACATGTACACAGATGCACAAATACAAACATGGATGCACATACACACACACCACCCACACATGCACGCACACACACACATGCATGCACACACACATGCACACACTTCACACCTGCACACACTGAGAAGGAGAGAGTGGGGCAGGGCAAGAATGGAAACAAGATCCTTCCAAATATATCTTGCTTTATAGTTTGATTTTTGACTTACTTGTTTTTAATTTTGAAAACTAAAATAAATAGAAGTGTTAATGTATTAAAAATAAACAAATCTAAGCTTCTATCAAGTTGGTGCTGTAATTATCCAGAGAAGAATTCTTTAAGTAAATGTAAATCACAGGACACAAAGGACCTAAAGACAAATGCACCTTCAGAAATCTTGCACTGACAGATAGTGTCTAGCCCTGGTTGGTACTGATGTTTTGAAATATACACGTACATAAAGATGGCCAGTGGTATTGTAGCCAAAGGGATTTGGCCAGTGTGGTCAGCAGATTGGTTATATACAGAGGAAATTAGGCAAATAAGTAAGCCAAATGCGAGCTAGGTTTCTCATGAGCAGAAATGAGANNNN	pathogenic	1,210
Does the genetic variant at chromosome 1, position 5867842, impacting gene NPHP4 (nephrocystin 4), appear benign or pathogenic? If pathogenic, name the associated disease(s).	pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']	TGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGATAGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCACAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACACACGCACCCACACACACGCATGCACTCATGCACCCACACATGCACCCATACACATACACATACATGCACACCCACATGCATGCAGGCACACGTGCACACACATGCAAACATGCACCCATGCATGCACACACGCATCCAGCCACAAATGCACACACATGCATGTACACATATACATGCACGCATGCCCCACACACACACATGCACGCCCACATGCATGCACCCACACATGTACACATATGCATGCACCCACATGCACACACGCACACAATGCACACATACATGCACACACATCCACCCACACATGCACACACGCACCCACACACGCATGCACACACATACATGCACACATGCCCCCACACGCACACATATGCACGCCCACATGCATGCACCCACACATGTACACACATGCATGCACCCACATGCACACACACACAATGCACACACACATGCACACACATCCACCCACACATGCACACACACGCACCCATACACACACACATGCACACACATACATGCACACATGCCCCCACACGCACACACATGCATGCCCACATGCATGCACCCACACATGCACACATGCATGCACCCACATGCACACACGCACAATGCACACATATCCGCCCACACATGCACACACACGCACCCACATGCACACAATGCACACATACATGCACACATATCCACCCACATGCATACACATCCACCCACATGCACACACACACACACACACATGCACACCCACATGCATGCATGCATCCATACATGTACACAGATGCACAAATACAAACATGGATGCACATACACACACACCACCCACACATGCACGCACACACACACATGCATGCACACACACATGCACACACTTCACACCTGCACACACTGAGAAGGAGAGAGTGGGGCAGGGCAAGAATGGAAACAAGATCCTTCCAAATATATCTTGCTTTATAGTTTGATTTTTGACTTACTTGTTTTTAATTTTGAAAACTAAAATAAATAGAAGTGTTAATGTATTAAAAATAAACAAATCTAAGCTTCTATCAAGTTGGTGCTGTAATTATCCAGAGAAGAATTCTTTAAGTAAATGTAAATCACAGGACACAAAGGACCTAAAGACAAATGCACCTTCAGAAATCTTGCACTGACAGATAGTGTCTAGCCCTGGTTGGTACTGATGTTTTGAAATATACACGTACATAAAGATGGCCAGTGGTATTGTAGCCAAAGGGATTTGGCCAGTGTGGTCAGCAGATTGGTTATATACAGAGGAAATTAGGCAAATAAGTAAGCCAAATGCGAGCTAGGTTTCTCATGAGCAGAAATGAGAATTACAAACATGGAAAAAAACAGGAAGAAACCCGTGATGTTAA	TGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGATAGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACACACGCACCCACACACACGCATGCACTCATGCACCCACACATGCACCCATACACATACACATACATGCACACCCACATGCATGCAGGCACACGTGCACACACATGCAAACATGCACCCATGCATGCACACACGCATCCAGCCACAAATGCACACACATGCATGTACACATATACATGCACGCATGCCCCACACACACACATGCACGCCCACATGCATGCACCCACACATGTACACATATGCATGCACCCACATGCACACACGCACACAATGCACACATACATGCACACACATCCACCCACACATGCACACACGCACCCACACACGCATGCACACACATACATGCACACATGCCCCCACACGCACACATATGCACGCCCACATGCATGCACCCACACATGTACACACATGCATGCACCCACATGCACACACACACAATGCACACACACATGCACACACATCCACCCACACATGCACACACACGCACCCATACACACACACATGCACACACATACATGCACACATGCCCCCACACGCACACACATGCATGCCCACATGCATGCACCCACACATGCACACATGCATGCACCCACATGCACACACGCACAATGCACACATATCCGCCCACACATGCACACACACGCACCCACATGCACACAATGCACACATACATGCACACATATCCACCCACATGCATACACATCCACCCACATGCACACACACACACACACACATGCACACCCACATGCATGCATGCATCCATACATGTACACAGATGCACAAATACAAACATGGATGCACATACACACACACCACCCACACATGCACGCACACACACACATGCATGCACACACACATGCACACACTTCACACCTGCACACACTGAGAAGGAGAGAGTGGGGCAGGGCAAGAATGGAAACAAGATCCTTCCAAATATATCTTGCTTTATAGTTTGATTTTTGACTTACTTGTTTTTAATTTTGAAAACTAAAATAAATAGAAGTGTTAATGTATTAAAAATAAACAAATCTAAGCTTCTATCAAGTTGGTGCTGTAATTATCCAGAGAAGAATTCTTTAAGTAAATGTAAATCACAGGACACAAAGGACCTAAAGACAAATGCACCTTCAGAAATCTTGCACTGACAGATAGTGTCTAGCCCTGGTTGGTACTGATGTTTTGAAATATACACGTACATAAAGATGGCCAGTGGTATTGTAGCCAAAGGGATTTGGCCAGTGTGGTCAGCAGATTGGTTATATACAGAGGAAATTAGGCAAATAAGTAAGCCAAATGCGAGCTAGGTTTCTCATGAGCAGAAATGAGAATTACAAACATGGAAAAAAACAGGAAGAAACCCGTGATGTTAANN	pathogenic	1,211
Is the chromosome 1, position 5873294 variant in NPHP4 (nephrocystin 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?	pathogenic; ['Nephronophthisis']	TACTTGTTATTTAAAAAAGGCACAGGAGTTAACTTGAAAAGGATGGCGGTGGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGACTGCAATTTCACCATTTTCCACCCTGGATGGAACACGCAGTGGGCCAGGAGCCTCAGCTGGATGCGAGTGAGGGAGACACGGGTGATGGCATCAGGCCATCAGCACCTGAGCACGGTGACAGCCAGCATGGCCTCTGTGGGTGGCCTTCATGGACAACGTGGTCTGCCCACTGAGCAACTCCAGAGGCGGAGCACCCCAGGACAGCGGGTCCTGATCCAAACGCACCAGTGGTAGAAAGGCCCGTGGTTACAGCCCCAGCAGACGATGCCGAGGTCTGCGTTGACTGGGGGCAGCAACAACAGCATGCAGTCATGATAAAAAGAAAAGTCCTTATCAGTCAGAGATACACACTGCAGTAATTATGGGTAAACTAACACAGTGTCTAGGATTTCCCTTCAAACTCCAAATTCATGTGAAGAGATCATATTTCTGACGTAAAGATTATTTTAAGGTGAAAAGAAATCTTACCTGAACTTTCCTTATCTGACTAGTGCACAGCCACCTGAAAGTGCAGCTGCCATTAAACCCCTATGTGAAAGTGTAAGTGAAAGCATCCTGCAAATTCCAGGAAGGTCACAGACTGGCCATGCTCACAGCATAAAGAGACAACAGAATGTCCCCGTCTTCCCACGGAGGCCCTGGCCCTCGCCCCCTTTGTGCTACATTGGCACAGAAACCTCGACCTCTGGGCATTTGGCAAGCTACTCACTTCCCAATGCTGCCACGGGCTCACAACGGTAAGGCCCGTCTTTGCTGCTGTCCCTCTGTCTACGGTCATCCACCTGCAGCCCTTACCATTCAGACCTGAGCTAGCAGAGGAAAACCTTCCTCCCAACGGTTTTGGCAACAGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACAC	TACTTGTTATTTAAAAAAGGCACAGGAGTTAACTTGAAAAGGATGGCGGTGGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGACTGCAATTTCACCATTTTCCACCCTGGATGGAACACGCAGTGGGCCAGGAGCCTCAGCTGGATGCGAGTGAGGGAGACACGGGTGATGGCATCAGGCCATCAGCACCTGAGCACGGTGACAGCCAGCATGGCCTCTGTGGGTGGCCTTCATGGACAACGTGGTCTGCCCACTGAGCAACTCCAGAGGCGGAGCACCCCAGGACAGCGGGTCCTGATCCAAACGCACCAGTGGTAGAAAGGCCCGTGGTTACAGCCCCAGCAGACGATGCCGAGGTCTGCGTTGACTGGGGGCAGCAACAACAGCATGCAGTCATGATAAAAAGAAAAGTCCTTATCAGTCAGAGATACACACTGCAGTAATTATGGGTAAACTAACACAGTGTCTAGGATTTCCCTTCAAACTCCAAATTCATGTGAAGAGATCATATTTCTGACGTAAAGATTATTTTAAGGTGAAAAGAAATCTTACCTGAACTTTCCTTATCTGACTAGTGCACAGCCACCTGAAAGTGCAGCTGCCATTAAACCCCTATGTGAAAGTGTAAGTGAAAGCATCCTGCAAATTCCAGGAAGGTCACAGACTGGCCATGCTCACAGCATAAAGAGACAACAGAATGTCCCCGTCTTCCCACGGAGGCCCTGGCCCTCGCCCCCTTTGTGCTACATTGGCACAGAAACCTCGACCTCTGGGCATTTGGCAAGCTACTCACTTCCCAATGCTGCCACGGGCTCACAACGGTAAGGCCCGTCTTTGCTGCTGTCCCTCTGTCTACGGTCATCCACCTGCAGCCCTTACCATTCAGACCTGAGCTAGCAGAGGAAAACCTTCCTCCCAACGGTTTTGGCAACAGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACAACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACA	pathogenic	1,216
Assess the variant on chromosome 1, position 5873294, impacting NPHP4 (nephrocystin 4): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['NPHP4-related_disorder', 'Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']	TACTTGTTATTTAAAAAAGGCACAGGAGTTAACTTGAAAAGGATGGCGGTGGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGACTGCAATTTCACCATTTTCCACCCTGGATGGAACACGCAGTGGGCCAGGAGCCTCAGCTGGATGCGAGTGAGGGAGACACGGGTGATGGCATCAGGCCATCAGCACCTGAGCACGGTGACAGCCAGCATGGCCTCTGTGGGTGGCCTTCATGGACAACGTGGTCTGCCCACTGAGCAACTCCAGAGGCGGAGCACCCCAGGACAGCGGGTCCTGATCCAAACGCACCAGTGGTAGAAAGGCCCGTGGTTACAGCCCCAGCAGACGATGCCGAGGTCTGCGTTGACTGGGGGCAGCAACAACAGCATGCAGTCATGATAAAAAGAAAAGTCCTTATCAGTCAGAGATACACACTGCAGTAATTATGGGTAAACTAACACAGTGTCTAGGATTTCCCTTCAAACTCCAAATTCATGTGAAGAGATCATATTTCTGACGTAAAGATTATTTTAAGGTGAAAAGAAATCTTACCTGAACTTTCCTTATCTGACTAGTGCACAGCCACCTGAAAGTGCAGCTGCCATTAAACCCCTATGTGAAAGTGTAAGTGAAAGCATCCTGCAAATTCCAGGAAGGTCACAGACTGGCCATGCTCACAGCATAAAGAGACAACAGAATGTCCCCGTCTTCCCACGGAGGCCCTGGCCCTCGCCCCCTTTGTGCTACATTGGCACAGAAACCTCGACCTCTGGGCATTTGGCAAGCTACTCACTTCCCAATGCTGCCACGGGCTCACAACGGTAAGGCCCGTCTTTGCTGCTGTCCCTCTGTCTACGGTCATCCACCTGCAGCCCTTACCATTCAGACCTGAGCTAGCAGAGGAAAACCTTCCTCCCAACGGTTTTGGCAACAGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACAC	TACTTGTTATTTAAAAAAGGCACAGGAGTTAACTTGAAAAGGATGGCGGTGGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGACTGCAATTTCACCATTTTCCACCCTGGATGGAACACGCAGTGGGCCAGGAGCCTCAGCTGGATGCGAGTGAGGGAGACACGGGTGATGGCATCAGGCCATCAGCACCTGAGCACGGTGACAGCCAGCATGGCCTCTGTGGGTGGCCTTCATGGACAACGTGGTCTGCCCACTGAGCAACTCCAGAGGCGGAGCACCCCAGGACAGCGGGTCCTGATCCAAACGCACCAGTGGTAGAAAGGCCCGTGGTTACAGCCCCAGCAGACGATGCCGAGGTCTGCGTTGACTGGGGGCAGCAACAACAGCATGCAGTCATGATAAAAAGAAAAGTCCTTATCAGTCAGAGATACACACTGCAGTAATTATGGGTAAACTAACACAGTGTCTAGGATTTCCCTTCAAACTCCAAATTCATGTGAAGAGATCATATTTCTGACGTAAAGATTATTTTAAGGTGAAAAGAAATCTTACCTGAACTTTCCTTATCTGACTAGTGCACAGCCACCTGAAAGTGCAGCTGCCATTAAACCCCTATGTGAAAGTGTAAGTGAAAGCATCCTGCAAATTCCAGGAAGGTCACAGACTGGCCATGCTCACAGCATAAAGAGACAACAGAATGTCCCCGTCTTCCCACGGAGGCCCTGGCCCTCGCCCCCTTTGTGCTACATTGGCACAGAAACCTCGACCTCTGGGCATTTGGCAAGCTACTCACTTCCCAATGCTGCCACGGGCTCACAACGGTAAGGCCCGTCTTTGCTGCTGTCCCTCTGTCTACGGTCATCCACCTGCAGCCCTTACCATTCAGACCTGAGCTAGCAGAGGAAAACCTTCCTCCCAACGGTTTTGGCAACAGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACCGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACN	pathogenic	1,217
Does the chromosome 1 mutation at position 5873344 within gene NPHP4 (nephrocystin 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).	benign	GGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGACTGCAATTTCACCATTTTCCACCCTGGATGGAACACGCAGTGGGCCAGGAGCCTCAGCTGGATGCGAGTGAGGGAGACACGGGTGATGGCATCAGGCCATCAGCACCTGAGCACGGTGACAGCCAGCATGGCCTCTGTGGGTGGCCTTCATGGACAACGTGGTCTGCCCACTGAGCAACTCCAGAGGCGGAGCACCCCAGGACAGCGGGTCCTGATCCAAACGCACCAGTGGTAGAAAGGCCCGTGGTTACAGCCCCAGCAGACGATGCCGAGGTCTGCGTTGACTGGGGGCAGCAACAACAGCATGCAGTCATGATAAAAAGAAAAGTCCTTATCAGTCAGAGATACACACTGCAGTAATTATGGGTAAACTAACACAGTGTCTAGGATTTCCCTTCAAACTCCAAATTCATGTGAAGAGATCATATTTCTGACGTAAAGATTATTTTAAGGTGAAAAGAAATCTTACCTGAACTTTCCTTATCTGACTAGTGCACAGCCACCTGAAAGTGCAGCTGCCATTAAACCCCTATGTGAAAGTGTAAGTGAAAGCATCCTGCAAATTCCAGGAAGGTCACAGACTGGCCATGCTCACAGCATAAAGAGACAACAGAATGTCCCCGTCTTCCCACGGAGGCCCTGGCCCTCGCCCCCTTTGTGCTACATTGGCACAGAAACCTCGACCTCTGGGCATTTGGCAAGCTACTCACTTCCCAATGCTGCCACGGGCTCACAACGGTAAGGCCCGTCTTTGCTGCTGTCCCTCTGTCTACGGTCATCCACCTGCAGCCCTTACCATTCAGACCTGAGCTAGCAGAGGAAAACCTTCCTCCCAACGGTTTTGGCAACAGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCC	GGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGACTGCAATTTCACCATTTTCCACCCTGGATGGAACACGCAGTGGGCCAGGAGCCTCAGCTGGATGCGAGTGAGGGAGACACGGGTGATGGCATCAGGCCATCAGCACCTGAGCACGGTGACAGCCAGCATGGCCTCTGTGGGTGGCCTTCATGGACAACGTGGTCTGCCCACTGAGCAACTCCAGAGGCGGAGCACCCCAGGACAGCGGGTCCTGATCCAAACGCACCAGTGGTAGAAAGGCCCGTGGTTACAGCCCCAGCAGACGATGCCGAGGTCTGCGTTGACTGGGGGCAGCAACAACAGCATGCAGTCATGATAAAAAGAAAAGTCCTTATCAGTCAGAGATACACACTGCAGTAATTATGGGTAAACTAACACAGTGTCTAGGATTTCCCTTCAAACTCCAAATTCATGTGAAGAGATCATATTTCTGACGTAAAGATTATTTTAAGGTGAAAAGAAATCTTACCTGAACTTTCCTTATCTGACTAGTGCACAGCCACCTGAAAGTGCAGCTGCCATTAAACCCCTATGTGAAAGTGTAAGTGAAAGCATCCTGCAAATTCCAGGAAGGTCACAGACTGGCCATGCTCACAGCATAAAGAGACAACAGAATGTCCCCGTCTTCCCACGGAGGCCCTGGCCCTCGCCCCCTTTGTGCTACATTGGCACAGAAACCTCGACCTCTGGGCATTTGGCAAGCTACTCACTTCCCAATGCTGCCACGGGCTCACAACGGTAAGGCCCGTCTTTGCTGCTGTCCCTCTGTCTACGGTCATCCACCTGCAGCCCTTACCATTCAGACCTGAGCTAGCAGAGGAAAACCTTCCTCCCAACGGTTTTGGCAACAGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCN	benign	1,219
Variant chromosome 1, position 5874463, gene NPHP4 (nephrocystin 4): benign or pathogenic? Disease(s)?	benign	AGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGC	AGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAG	benign	1,224
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 5874553, gene NPHP4 (nephrocystin 4). What disease(s) is it linked to if pathogenic?	pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']	GGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCA	GGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAN	pathogenic	1,225
Is the chromosome 1, position 5874618 variant in NPHP4 (nephrocystin 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?	pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']	GACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTT	GACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTN	pathogenic	1,228
Is the genetic variant on chromosome 1, position 5874860, gene NPHP4 (nephrocystin 4), benign or pathogenic? If pathogenic, what disease(s) is indicated?	benign	CCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTAGTAGCAAAATATTAAAAGTTCTATTTAGATTTTCAGCCAAAAAGGGGAATTTTTCTAGCCAGAATGATTACATTGACAACCCAGGATATGTCAGTTGTTCACAGCTCTGGTCCCCAGACCTGGGAGAGCCTCAGAATCACCTGCAAAGCTTTCTTCAAACCCAGGCTCCAGGGGTCCTGCCCACACCAATCAGTATCAGAATCTCCAGGGGTGACGCCCAAGAACTGGCTTTTATTAAAAG	CCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTAGTAGCAAAATATTAAAAGTTCTATTTAGATTTTCAGCCAAAAAGGGGAATTTTTCTAGCCAGAATGATTACATTGACAACCCAGGATATGTCAGTTGTTCACAGCTCTGGTCCCCAGACCTGGGAGAGCCTCAGAATCACCTGCAAAGCTTTCTTCAAACCCAGGCTCCAGGGGTCCTGCCCACACCAATCAGTATCAGAATCTCCAGGGGTGACGCCCAAGAACTGGCTTTTATTAAAAGNNN	benign	1,235
Does the chromosome 1 mutation at position 5874973 within gene NPHP4 (nephrocystin 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).	pathogenic; ['Nephronophthisis']	AATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTAGTAGCAAAATATTAAAAGTTCTATTTAGATTTTCAGCCAAAAAGGGGAATTTTTCTAGCCAGAATGATTACATTGACAACCCAGGATATGTCAGTTGTTCACAGCTCTGGTCCCCAGACCTGGGAGAGCCTCAGAATCACCTGCAAAGCTTTCTTCAAACCCAGGCTCCAGGGGTCCTGCCCACACCAATCAGTATCAGAATCTCCAGGGGTGACGCCCAAGAACTGGCTTTTATTAAAAGCTCTCCAGATAATTCTCACTTAAAGATTTCCCCCGGTGGCTGAAAAAGTCCGATTTTCTTATATTCTGTCCCCAGGATTTGGGAGGAAGGTAAGAGAGAATCATGTGGGAGGC	AATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTAGTAGCAAAATATTAAAAGTTCTATTTAGATTTTCAGCCAAAAAGGGGAATTTTTCTAGCCAGAATGATTACATTGACAACCCAGGATATGTCAGTTGTTCACAGCTCTGGTCCCCAGACCTGGGAGAGCCTCAGAATCACCTGCAAAGCTTTCTTCAAACCCAGGCTCCAGGGGTCCTGCCCACACCAATCAGTATCAGAATCTCCAGGGGTGACGCCCAAGAACTGGCTTTTATTAAAAGCTCTCCAGATAATTCTCACTTAAAGATTTCCCCCGGTGGCTGAAAAAGTCCGATTTTCTTATATTCTGTCCCCAGGATTTGGGAGGAAGGTAAGAGAGAATCATGTGG	pathogenic	1,238
Variant at chromosome 1, position 5875009, gene NPHP4 (nephrocystin 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']	TGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTAGTAGCAAAATATTAAAAGTTCTATTTAGATTTTCAGCCAAAAAGGGGAATTTTTCTAGCCAGAATGATTACATTGACAACCCAGGATATGTCAGTTGTTCACAGCTCTGGTCCCCAGACCTGGGAGAGCCTCAGAATCACCTGCAAAGCTTTCTTCAAACCCAGGCTCCAGGGGTCCTGCCCACACCAATCAGTATCAGAATCTCCAGGGGTGACGCCCAAGAACTGGCTTTTATTAAAAGCTCTCCAGATAATTCTCACTTAAAGATTTCCCCCGGTGGCTGAAAAAGTCCGATTTTCTTATATTCTGTCCCCAGGATTTGGGAGGAAGGTAAGAGAGAATCATGTGGGAGGCAGGGAAAGGATGTGCACAGTGACTCAGTCTGCATGG	TGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTAGTAGCAAAATATTAAAAGTTCTATTTAGATTTTCAGCCAAAAAGGGGAATTTTTCTAGCCAGAATGATTACATTGACAACCCAGGATATGTCAGTTGTTCACAGCTCTGGTCCCCAGACCTGGGAGAGCCTCAGAATCACCTGCAAAGCTTTCTTCAAACCCAGGCTCCAGGGGTCCTGCCCACACCAATCAGTATCAGAATCTCCAGGGGTGACGCCCAAGAACTGGCTTTTATTAAAAGCTCTCCAGATAATTCTCACTTAAAGATTTCCCCCGGTGGCTGAAAAAGTCCGATTTTCTTATATTCTGTCCCCAGGATTTGGGAGGAAGGTAAGAGAGAATCATGTGGGAGGCAGGGAAAGGATGTGCACAGTGACTCAGTCTGCATG	pathogenic	1,240
Does the chromosome 1 mutation at position 5904752 within gene NPHP4 (nephrocystin 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).	pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']	ACATAGGCATTTAAAACTGTAAATTCCCCTGTAATTACAATTTTACTTGCATCTCCTAAGTTTTGATATGCAATATTATTTTGTCATTCAGTTTTAAATAATTACGCATTTCTATTTTGAGGTCTTCATTGACTCATGGAATAATTAGAAGCACATTTTAAAATTAAAAAAATAAAAGCAGTTCAGAGTGGTTGTAGGGGAGGGAGTGACTGACTTCTGATCTTGTGGCATTATGGCCAGAGAAAGTTATAAAATTAGATTTGATACCGATTCTCTCAGTATAGGGTGATGCCTGCTTGGTGAGCTAAAAAATATATATGAATGATGATCAGTTTTTCTAAGTTTCAAAGTATGCTTTAAAATAATGCATATTCTCTAAACGGGATGTACAGGTTTTCTCAGATCACCTTTTTAAACTGTATTTTATAATATCCTTATTAACTTGTTTCTGTTTGATCAATCTACTGAGAAGTATGTCTAGAACTCCCATGATTGTGGAGGTTTGCCAATTTCTCCTTATAAGTCCATCAAGTTCTCCTCTCTATCTTGAGGCTACGTATGTTAGAAGATCGCGGATTCAGAACTGTTTCTTTTCCTAGTGAATTACTTTCTTGGTTATTGTTTACCAGCCTCCTTGATCCCTAGCGCTGCATTTGCTTTGTGTCTCTGCTGTCAGGTGCCACTGTTAGGCTACTTCATTTGAGGTCAGCATTTTAACATCACTTTTCCCATCTGCCACTTTCTACCTCGAGAGGCGGCAGTGTTTCAGACCCCAGCTGGGTCCCTTATGAGCTGAGTCACTGACCAAGATGGGGAAACTGACCATCAATAAAAATATCAACATGTCAGGTGTGTTTCTATTCAATGTAGCTTCAATCTATTCGTTTACAATGATACCCGAAGAAAAAAAAAGTCATTAGTCCCCATCCTTGAAGGATGCCAGGGAATCATGTAATTACTTCAGAAATTGGCAAATAAAGGGAAGAATCAAGTATTATCCAGCCTTTCCTATACAAACTGCACCTCAAGGTAAGCAAAAAGTTGATGCCAGGAAGTTTCTGGTTTTGGAAGCATCCCAGCTAACAAACAAGGGAGGTGTTCTAGAAGCAGAACGTCACCTCTGCACAAATGACACAGCGGTGGGCACAATGGCTGCTGACGCAACACAAAGAGAAGCAAGCAGACGCCAAGGGCGCAGCGGAGGTGCAGGAGGTGGCGCAAACGTCACCTGCTACAAAGAACTCTTGCCAAAAACAAAAAAAAGCATCTAATCATGCATCTAGATCTAACTCCCAATTTACAGCTAAAGAGGGGACAGAACAACACCTTTATGTTACCACCAGGATACAAAAACAGAATCCAGACTGTGGGGTGGACGCTCTACAGTACAATGTGGCTTCTTCAATAAATACATAAAAAAGAAACAACAGAGACAGGTACGGTGGCAGCAACTGCAGACAGAGACTGAAGAGTCACACTGCTCCATGACCAGTATGGACCTTATTTCTGGACAAACTTAAAAAAATGTTATGAGGTTACTAGCAAAATTTTAACATTGGCTAGATATTTGATGATATTAGGAGTTATTATTTTAGATGGGCTATACCCCTTAAGTTTATGTTTTTCAAATGAGAATTCCTAATTTTTTAGATATACATAAGGAAATATTCATACATGAAATTATATAATGTCTGGGATTTGCTTCAAAATAACCCTGGCTTGGGGGAGGACGCTGGGTTGGGAGGCAGCTGAGAGCTGCTGGGGCTAAGTGTTTGCTGCACTGGTCACCGTATGATTCTAATGTTGCATATGTTTTAAACTTTTCATAGTACCACTTATTTAATAACACTGACAATTTACACACACAACTCAGTACAGAATGTCTTGCCTTTGCCATGCACATGAGTACTCACCAGCATCAAAGGTGCCATCTCTGCTCACAGGCACGAGGATGTGGGTCAGGGCGCCAGAGCTGGGCTGGCCGGCCTCATCCAGCTGGACCAGCTGCAGTCGTGGCGTCGTTGCGGGTGGGAAGCGGTAGAACTGGAAGGTGAAATACACAGTCTTTGGCCATGATGTTCCTCGGCAGTCCTGGGCCACTCTGAATCCAACAACAGCTCTGGGTTAACTGAGTATCCATGGCACAGAACCTGAGGGGTCTAATGTGTGTTTGCATAGGGGATGGTCCAGGCACCTTAGTCGCTGGGGAACAGTAAAGAGGCTGCCGTGGTCACCAATGCAACCGCTTTGCTGTGCTCTCAGCAAGCCGGCCAGACAGCAGCATTCTCGAGTGTAAGGACACTCCCGGCTAGAGAAGCTGCCTTTGGAGCTACACTAAGATCTAAGACCTGGACAACCCACCGTCCACATTTTAATGAAGGACCACAAAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGTAACTGTTCGGCAATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATA	ACATAGGCATTTAAAACTGTAAATTCCCCTGTAATTACAATTTTACTTGCATCTCCTAAGTTTTGATATGCAATATTATTTTGTCATTCAGTTTTAAATAATTACGCATTTCTATTTTGAGGTCTTCATTGACTCATGGAATAATTAGAAGCACATTTTAAAATTAAAAAAATAAAAGCAGTTCAGAGTGGTTGTAGGGGAGGGAGTGACTGACTTCTGATCTTGTGGCATTATGGCCAGAGAAAGTTATAAAATTAGATTTGATACCGATTCTCTCAGTATAGGGTGATGCCTGCTTGGTGAGCTAAAAAATATATATGAATGATGATCAGTTTTTCTAAGTTTCAAAGTATGCTTTAAAATAATGCATATTCTCTAAACGGGATGTACAGGTTTTCTCAGATCACCTTTTTAAACTGTATTTTATAATATCCTTATTAACTTGTTTCTGTTTGATCAATCTACTGAGAAGTATGTCTAGAACTCCCATGATTGTGGAGGTTTGCCAATTTCTCCTTATAAGTCCATCAAGTTCTCCTCTCTATCTTGAGGCTACGTATGTTAGAAGATCGCGGATTCAGAACTGTTTCTTTTCCTAGTGAATTACTTTCTTGGTTATTGTTTACCAGCCTCCTTGATCCCTAGCGCTGCATTTGCTTTGTGTCTCTGCTGTCAGGTGCCACTGTTAGGCTACTTCATTTGAGGTCAGCATTTTAACATCACTTTTCCCATCTGCCACTTTCTACCTCGAGAGGCGGCAGTGTTTCAGACCCCAGCTGGGTCCCTTATGAGCTGAGTCACTGACCAAGATGGGGAAACTGACCATCAATAAAAATATCAACATGTCAGGTGTGTTTCTATTCAATGTAGCTTCAATCTATTCGTTTACAATGATACCCGAAGAAAAAAAAAGTCATTAGTCCCCATCCTTGAAGGATGCCAGGGAATCATGTAATTACTTCAGAAATTGGCAAATAAAGGGAAGAATCAAGTATTATCCAGCCTTTCCTATACAAACTGCACCTCAAGGTAAGCAAAAAGTTGATGCCAGGAAGTTTCTGGTTTTGGAAGCATCCCAGCTAACAAACAAGGGAGGTGTTCTAGAAGCAGAACGTCACCTCTGCACAAATGACACAGCGGTGGGCACAATGGCTGCTGACGCAACACAAAGAGAAGCAAGCAGACGCCAAGGGCGCAGCGGAGGTGCAGGAGGTGGCGCAAACGTCACCTGCTACAAAGAACTCTTGCCAAAAACAAAAAAAAGCATCTAATCATGCATCTAGATCTAACTCCCAATTTACAGCTAAAGAGGGGACAGAACAACACCTTTATGTTACCACCAGGATACAAAAACAGAATCCAGACTGTGGGGTGGACGCTCTACAGTACAATGTGGCTTCTTCAATAAATACATAAAAAAGAAACAACAGAGACAGGTACGGTGGCAGCAACTGCAGACAGAGACTGAAGAGTCACACTGCTCCATGACCAGTATGGACCTTATTTCTGGACAAACTTAAAAAAATGTTATGAGGTTACTAGCAAAATTTTAACATTGGCTAGATATTTGATGATATTAGGAGTTATTATTTTAGATGGGCTATACCCCTTAAGTTTATGTTTTTCAAATGAGAATTCCTAATTTTTTAGATATACATAAGGAAATATTCATACATGAAATTATATAATGTCTGGGATTTGCTTCAAAATAACCCTGGCTTGGGGGAGGACGCTGGGTTGGGAGGCAGCTGAGAGCTGCTGGGGCTAAGTGTTTGCTGCACTGGTCACCGTATGATTCTAATGTTGCATATGTTTTAAACTTTTCATAGTACCACTTATTTAATAACACTGACAATTTACACACACAACTCAGTACAGAATGTCTTGCCTTTGCCATGCACATGAGTACTCACCAGCATCAAAGGTGCCATCTCTGCTCACAGGCACGAGGATGTGGGTCAGGGCGCCAGAGCTGGGCTGGCCGGCCTCATCCAGCTGGACCAGCTGCAGTCGTGGCGTCGTTGCGGGTGGGAAGCGGTAGAACTGGAAGTGAAATACACAGTCTTTGGCCATGATGTTCCTCGGCAGTCCTGGGCCACTCTGAATCCAACAACAGCTCTGGGTTAACTGAGTATCCATGGCACAGAACCTGAGGGGTCTAATGTGTGTTTGCATAGGGGATGGTCCAGGCACCTTAGTCGCTGGGGAACAGTAAAGAGGCTGCCGTGGTCACCAATGCAACCGCTTTGCTGTGCTCTCAGCAAGCCGGCCAGACAGCAGCATTCTCGAGTGTAAGGACACTCCCGGCTAGAGAAGCTGCCTTTGGAGCTACACTAAGATCTAAGACCTGGACAACCCACCGTCCACATTTTAATGAAGGACCACAAAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGTAACTGTTCGGCAATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATAN	pathogenic	1,267
Chromosome 1, position 5905354, gene NPHP4 (nephrocystin 4): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']	ATTACTTTCTTGGTTATTGTTTACCAGCCTCCTTGATCCCTAGCGCTGCATTTGCTTTGTGTCTCTGCTGTCAGGTGCCACTGTTAGGCTACTTCATTTGAGGTCAGCATTTTAACATCACTTTTCCCATCTGCCACTTTCTACCTCGAGAGGCGGCAGTGTTTCAGACCCCAGCTGGGTCCCTTATGAGCTGAGTCACTGACCAAGATGGGGAAACTGACCATCAATAAAAATATCAACATGTCAGGTGTGTTTCTATTCAATGTAGCTTCAATCTATTCGTTTACAATGATACCCGAAGAAAAAAAAAGTCATTAGTCCCCATCCTTGAAGGATGCCAGGGAATCATGTAATTACTTCAGAAATTGGCAAATAAAGGGAAGAATCAAGTATTATCCAGCCTTTCCTATACAAACTGCACCTCAAGGTAAGCAAAAAGTTGATGCCAGGAAGTTTCTGGTTTTGGAAGCATCCCAGCTAACAAACAAGGGAGGTGTTCTAGAAGCAGAACGTCACCTCTGCACAAATGACACAGCGGTGGGCACAATGGCTGCTGACGCAACACAAAGAGAAGCAAGCAGACGCCAAGGGCGCAGCGGAGGTGCAGGAGGTGGCGCAAACGTCACCTGCTACAAAGAACTCTTGCCAAAAACAAAAAAAAGCATCTAATCATGCATCTAGATCTAACTCCCAATTTACAGCTAAAGAGGGGACAGAACAACACCTTTATGTTACCACCAGGATACAAAAACAGAATCCAGACTGTGGGGTGGACGCTCTACAGTACAATGTGGCTTCTTCAATAAATACATAAAAAAGAAACAACAGAGACAGGTACGGTGGCAGCAACTGCAGACAGAGACTGAAGAGTCACACTGCTCCATGACCAGTATGGACCTTATTTCTGGACAAACTTAAAAAAATGTTATGAGGTTACTAGCAAAATTTTAACATTGGCTAGATATTTGATGATATTAGGAGTTATTATTTTAGATGGGCTATACCCCTTAAGTTTATGTTTTTCAAATGAGAATTCCTAATTTTTTAGATATACATAAGGAAATATTCATACATGAAATTATATAATGTCTGGGATTTGCTTCAAAATAACCCTGGCTTGGGGGAGGACGCTGGGTTGGGAGGCAGCTGAGAGCTGCTGGGGCTAAGTGTTTGCTGCACTGGTCACCGTATGATTCTAATGTTGCATATGTTTTAAACTTTTCATAGTACCACTTATTTAATAACACTGACAATTTACACACACAACTCAGTACAGAATGTCTTGCCTTTGCCATGCACATGAGTACTCACCAGCATCAAAGGTGCCATCTCTGCTCACAGGCACGAGGATGTGGGTCAGGGCGCCAGAGCTGGGCTGGCCGGCCTCATCCAGCTGGACCAGCTGCAGTCGTGGCGTCGTTGCGGGTGGGAAGCGGTAGAACTGGAAGGTGAAATACACAGTCTTTGGCCATGATGTTCCTCGGCAGTCCTGGGCCACTCTGAATCCAACAACAGCTCTGGGTTAACTGAGTATCCATGGCACAGAACCTGAGGGGTCTAATGTGTGTTTGCATAGGGGATGGTCCAGGCACCTTAGTCGCTGGGGAACAGTAAAGAGGCTGCCGTGGTCACCAATGCAACCGCTTTGCTGTGCTCTCAGCAAGCCGGCCAGACAGCAGCATTCTCGAGTGTAAGGACACTCCCGGCTAGAGAAGCTGCCTTTGGAGCTACACTAAGATCTAAGACCTGGACAACCCACCGTCCACATTTTAATGAAGGACCACAAAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGTAACTGTTCGGCAATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATAGCCACACCTTCCTTTTACTTTCACGTAGAGACCTAGGGGTAGCTTAACTTTGTTTTCATGGGTAGAGCACAATCTGAGTCAAGCGCTGTGGTATGAAGAACTCATGGGCCACATTCTTCTTTGGTCTCCAAGACAGAATGGTGACAACTGTCTGAGGCCTCAGAGTAAGCAATGCCCCACTCCCACCCACATCCCAGGTAACCCGCCAAGGTCTCTGCCACCTAACTAAGGACAGGCACAGTGCAAAAACCCAAAATGAGGAGCTGTGGAGCCATTCCTTGGTGGAAGGCAAGGCGGCAGGTGGGCGGCACTTACTGCCTGGGCCGGGGAGGCCTGAGAGCCATGGGGTAGCTGTGAAGTAGGCCTGGCCAAGCAGTGCTGAGTCGGGGACCGCGGGGAGGCCGCCAGCTGGGAAATTGACAACTGGAAGGAAAGAGAGCACAGGTGAGGGGCTCAGAAGCTTGCCAGTCCGTCCACAAAGCTCCCAACATGCACTGGCCACACCGGGGAACGGGGTAGCCCTGGATCCAGCCACGGAAGGGAGTGATGCCTGCAGCCTCCTGGCCAGGGCAGCTCTGGAACCTGGGACCGCTTCTCAAGTT	ATTACTTTCTTGGTTATTGTTTACCAGCCTCCTTGATCCCTAGCGCTGCATTTGCTTTGTGTCTCTGCTGTCAGGTGCCACTGTTAGGCTACTTCATTTGAGGTCAGCATTTTAACATCACTTTTCCCATCTGCCACTTTCTACCTCGAGAGGCGGCAGTGTTTCAGACCCCAGCTGGGTCCCTTATGAGCTGAGTCACTGACCAAGATGGGGAAACTGACCATCAATAAAAATATCAACATGTCAGGTGTGTTTCTATTCAATGTAGCTTCAATCTATTCGTTTACAATGATACCCGAAGAAAAAAAAAGTCATTAGTCCCCATCCTTGAAGGATGCCAGGGAATCATGTAATTACTTCAGAAATTGGCAAATAAAGGGAAGAATCAAGTATTATCCAGCCTTTCCTATACAAACTGCACCTCAAGGTAAGCAAAAAGTTGATGCCAGGAAGTTTCTGGTTTTGGAAGCATCCCAGCTAACAAACAAGGGAGGTGTTCTAGAAGCAGAACGTCACCTCTGCACAAATGACACAGCGGTGGGCACAATGGCTGCTGACGCAACACAAAGAGAAGCAAGCAGACGCCAAGGGCGCAGCGGAGGTGCAGGAGGTGGCGCAAACGTCACCTGCTACAAAGAACTCTTGCCAAAAACAAAAAAAAGCATCTAATCATGCATCTAGATCTAACTCCCAATTTACAGCTAAAGAGGGGACAGAACAACACCTTTATGTTACCACCAGGATACAAAAACAGAATCCAGACTGTGGGGTGGACGCTCTACAGTACAATGTGGCTTCTTCAATAAATACATAAAAAAGAAACAACAGAGACAGGTACGGTGGCAGCAACTGCAGACAGAGACTGAAGAGTCACACTGCTCCATGACCAGTATGGACCTTATTTCTGGACAAACTTAAAAAAATGTTATGAGGTTACTAGCAAAATTTTAACATTGGCTAGATATTTGATGATATTAGGAGTTATTATTTTAGATGGGCTATACCCCTTAAGTTTATGTTTTTCAAATGAGAATTCCTAATTTTTTAGATATACATAAGGAAATATTCATACATGAAATTATATAATGTCTGGGATTTGCTTCAAAATAACCCTGGCTTGGGGGAGGACGCTGGGTTGGGAGGCAGCTGAGAGCTGCTGGGGCTAAGTGTTTGCTGCACTGGTCACCGTATGATTCTAATGTTGCATATGTTTTAAACTTTTCATAGTACCACTTATTTAATAACACTGACAATTTACACACACAACTCAGTACAGAATGTCTTGCCTTTGCCATGCACATGAGTACTCACCAGCATCAAAGGTGCCATCTCTGCTCACAGGCACGAGGATGTGGGTCAGGGCGCCAGAGCTGGGCTGGCCGGCCTCATCCAGCTGGACCAGCTGCAGTCGTGGCGTCGTTGCGGGTGGGAAGCGGTAGAACTGGAAGGTGAAATACACAGTCTTTGGCCATGATGTTCCTCGGCAGTCCTGGGCCACTCTGAATCCAACAACAGCTCTGGGTTAACTGAGTATCCATGGCACAGAACCTGAGGGGTCTAATGTGTGTTTGCATAGGGGATGGTCCAGGCACCTTAGTCGCTGGGGAACAGTAAAGAGGCTGCCGTGGTCACCAATGCAACCGCTTTGCTGTGCTCTCAGCAAGCCGGCCAGACAGCAGCATTCTCGAGTGTAAGGACACTCCCGGCTAGAGAAGCTGCCTTTGGAGCTACACTAAGATCTAAGACCTGGACAACCCACCGTCCACATTTTAATGAAGGACCACAAAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGTAACTGTTCGGCAATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATAGCCACACCTTCCTTTTACTTTCACGTAGAGACCTAGGGGTAGCTTAACTTTGTTTTCATGGGTAGAGCACAATCTGAGTCAAGCGCTGTGGTATGAAGAACTCATGGGCCACATTCTTCTTTGGTCTCCAAGACAGAATGGTGACAACTGTCTGAGGCCTCAGAGTAAGCAATGCCCCACTCCCACCCACATCCCAGGTAACCCGCCAAGGTCTCTGCCACCTAACTAAGGACAGGCACAGTGCAAAAACCCAAAATGAGGAGCTGTGGAGCCATTCCTTGGTGGAAGGCAAGGCGGCAGGTGGGCGGCACTTACTGCCTGGGCCGGGGAGGCCTGAGAGCCATGGGGTAGCTGTGAAGTAGGCCTGGCCAAGCAGTGCTGAGTCGGGGACCGCGGGGAGGCCGCCAGCTGGGAAATTGACAACTGGAAGGAAAGAGAGCACAGGTGAGGGGCTCAGAAGCTTGCCAGTCCGTCCACAAAGCTCCCAACATGCACTGGCCACACCGGGGAACGGGGTAGCCCTGGATCCAGCCACGGAAGGGAGTGATGCCTGCAGCCTCCTGGCCAGGGCAGCTCTGGAACCTGGGACCGCTTCTCAAGTTNNNN	pathogenic	1,271
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 5905690, gene NPHP4 (nephrocystin 4): what disease(s) if pathogenic?	pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']	GCCAGGGAATCATGTAATTACTTCAGAAATTGGCAAATAAAGGGAAGAATCAAGTATTATCCAGCCTTTCCTATACAAACTGCACCTCAAGGTAAGCAAAAAGTTGATGCCAGGAAGTTTCTGGTTTTGGAAGCATCCCAGCTAACAAACAAGGGAGGTGTTCTAGAAGCAGAACGTCACCTCTGCACAAATGACACAGCGGTGGGCACAATGGCTGCTGACGCAACACAAAGAGAAGCAAGCAGACGCCAAGGGCGCAGCGGAGGTGCAGGAGGTGGCGCAAACGTCACCTGCTACAAAGAACTCTTGCCAAAAACAAAAAAAAGCATCTAATCATGCATCTAGATCTAACTCCCAATTTACAGCTAAAGAGGGGACAGAACAACACCTTTATGTTACCACCAGGATACAAAAACAGAATCCAGACTGTGGGGTGGACGCTCTACAGTACAATGTGGCTTCTTCAATAAATACATAAAAAAGAAACAACAGAGACAGGTACGGTGGCAGCAACTGCAGACAGAGACTGAAGAGTCACACTGCTCCATGACCAGTATGGACCTTATTTCTGGACAAACTTAAAAAAATGTTATGAGGTTACTAGCAAAATTTTAACATTGGCTAGATATTTGATGATATTAGGAGTTATTATTTTAGATGGGCTATACCCCTTAAGTTTATGTTTTTCAAATGAGAATTCCTAATTTTTTAGATATACATAAGGAAATATTCATACATGAAATTATATAATGTCTGGGATTTGCTTCAAAATAACCCTGGCTTGGGGGAGGACGCTGGGTTGGGAGGCAGCTGAGAGCTGCTGGGGCTAAGTGTTTGCTGCACTGGTCACCGTATGATTCTAATGTTGCATATGTTTTAAACTTTTCATAGTACCACTTATTTAATAACACTGACAATTTACACACACAACTCAGTACAGAATGTCTTGCCTTTGCCATGCACATGAGTACTCACCAGCATCAAAGGTGCCATCTCTGCTCACAGGCACGAGGATGTGGGTCAGGGCGCCAGAGCTGGGCTGGCCGGCCTCATCCAGCTGGACCAGCTGCAGTCGTGGCGTCGTTGCGGGTGGGAAGCGGTAGAACTGGAAGGTGAAATACACAGTCTTTGGCCATGATGTTCCTCGGCAGTCCTGGGCCACTCTGAATCCAACAACAGCTCTGGGTTAACTGAGTATCCATGGCACAGAACCTGAGGGGTCTAATGTGTGTTTGCATAGGGGATGGTCCAGGCACCTTAGTCGCTGGGGAACAGTAAAGAGGCTGCCGTGGTCACCAATGCAACCGCTTTGCTGTGCTCTCAGCAAGCCGGCCAGACAGCAGCATTCTCGAGTGTAAGGACACTCCCGGCTAGAGAAGCTGCCTTTGGAGCTACACTAAGATCTAAGACCTGGACAACCCACCGTCCACATTTTAATGAAGGACCACAAAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGTAACTGTTCGGCAATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATAGCCACACCTTCCTTTTACTTTCACGTAGAGACCTAGGGGTAGCTTAACTTTGTTTTCATGGGTAGAGCACAATCTGAGTCAAGCGCTGTGGTATGAAGAACTCATGGGCCACATTCTTCTTTGGTCTCCAAGACAGAATGGTGACAACTGTCTGAGGCCTCAGAGTAAGCAATGCCCCACTCCCACCCACATCCCAGGTAACCCGCCAAGGTCTCTGCCACCTAACTAAGGACAGGCACAGTGCAAAAACCCAAAATGAGGAGCTGTGGAGCCATTCCTTGGTGGAAGGCAAGGCGGCAGGTGGGCGGCACTTACTGCCTGGGCCGGGGAGGCCTGAGAGCCATGGGGTAGCTGTGAAGTAGGCCTGGCCAAGCAGTGCTGAGTCGGGGACCGCGGGGAGGCCGCCAGCTGGGAAATTGACAACTGGAAGGAAAGAGAGCACAGGTGAGGGGCTCAGAAGCTTGCCAGTCCGTCCACAAAGCTCCCAACATGCACTGGCCACACCGGGGAACGGGGTAGCCCTGGATCCAGCCACGGAAGGGAGTGATGCCTGCAGCCTCCTGGCCAGGGCAGCTCTGGAACCTGGGACCGCTTCTCAAGTTCCTTTATTTAATGACAGAGAGGTGATTCCATGATCTCCCCCAGATCATAATATCTGAATAAGAATATTATTAACAAGGAAAACAAGCAAGAAAGGAGAAAGCATCTCAAGCTACAGGGGCGGCCTGGCCTCTGCCTCTCTGTCCCTTGCCAGCACTGGACTGAGCACCTCCAAGGCCCTGCCAGTTCTAGCCGCCTGCGTTCCTATCGAACAAACCTCCCTGTTAAGGCAATGACCATCTTGATGGCCAGCGCGGGCTCTGGAGACAGCTGTGGATAGAGTGCCCGTGCCAACGTGGCATTACCGTGGAGTGCCCGCACCAATGTGGCATTACTGT	GCCAGGGAATCATGTAATTACTTCAGAAATTGGCAAATAAAGGGAAGAATCAAGTATTATCCAGCCTTTCCTATACAAACTGCACCTCAAGGTAAGCAAAAAGTTGATGCCAGGAAGTTTCTGGTTTTGGAAGCATCCCAGCTAACAAACAAGGGAGGTGTTCTAGAAGCAGAACGTCACCTCTGCACAAATGACACAGCGGTGGGCACAATGGCTGCTGACGCAACACAAAGAGAAGCAAGCAGACGCCAAGGGCGCAGCGGAGGTGCAGGAGGTGGCGCAAACGTCACCTGCTACAAAGAACTCTTGCCAAAAACAAAAAAAAGCATCTAATCATGCATCTAGATCTAACTCCCAATTTACAGCTAAAGAGGGGACAGAACAACACCTTTATGTTACCACCAGGATACAAAAACAGAATCCAGACTGTGGGGTGGACGCTCTACAGTACAATGTGGCTTCTTCAATAAATACATAAAAAAGAAACAACAGAGACAGGTACGGTGGCAGCAACTGCAGACAGAGACTGAAGAGTCACACTGCTCCATGACCAGTATGGACCTTATTTCTGGACAAACTTAAAAAAATGTTATGAGGTTACTAGCAAAATTTTAACATTGGCTAGATATTTGATGATATTAGGAGTTATTATTTTAGATGGGCTATACCCCTTAAGTTTATGTTTTTCAAATGAGAATTCCTAATTTTTTAGATATACATAAGGAAATATTCATACATGAAATTATATAATGTCTGGGATTTGCTTCAAAATAACCCTGGCTTGGGGGAGGACGCTGGGTTGGGAGGCAGCTGAGAGCTGCTGGGGCTAAGTGTTTGCTGCACTGGTCACCGTATGATTCTAATGTTGCATATGTTTTAAACTTTTCATAGTACCACTTATTTAATAACACTGACAATTTACACACACAACTCAGTACAGAATGTCTTGCCTTTGCCATGCACATGAGTACTCACCAGCATCAAAGGTGCCATCTCTGCTCACAGGCACGAGGATGTGGGTCAGGGCGCCAGAGCTGGGCTGGCCGGCCTCATCCAGCTGGACCAGCTGCAGTCGTGGCGTCGTTGCGGGTGGGAAGCGGTAGAACTGGAAGGTGAAATACACAGTCTTTGGCCATGATGTTCCTCGGCAGTCCTGGGCCACTCTGAATCCAACAACAGCTCTGGGTTAACTGAGTATCCATGGCACAGAACCTGAGGGGTCTAATGTGTGTTTGCATAGGGGATGGTCCAGGCACCTTAGTCGCTGGGGAACAGTAAAGAGGCTGCCGTGGTCACCAATGCAACCGCTTTGCTGTGCTCTCAGCAAGCCGGCCAGACAGCAGCATTCTCGAGTGTAAGGACACTCCCGGCTAGAGAAGCTGCCTTTGGAGCTACACTAAGATCTAAGACCTGGACAACCCACCGTCCACATTTTAATGAAGGACCACAAAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATAGCCACACCTTCCTTTTACTTTCACGTAGAGACCTAGGGGTAGCTTAACTTTGTTTTCATGGGTAGAGCACAATCTGAGTCAAGCGCTGTGGTATGAAGAACTCATGGGCCACATTCTTCTTTGGTCTCCAAGACAGAATGGTGACAACTGTCTGAGGCCTCAGAGTAAGCAATGCCCCACTCCCACCCACATCCCAGGTAACCCGCCAAGGTCTCTGCCACCTAACTAAGGACAGGCACAGTGCAAAAACCCAAAATGAGGAGCTGTGGAGCCATTCCTTGGTGGAAGGCAAGGCGGCAGGTGGGCGGCACTTACTGCCTGGGCCGGGGAGGCCTGAGAGCCATGGGGTAGCTGTGAAGTAGGCCTGGCCAAGCAGTGCTGAGTCGGGGACCGCGGGGAGGCCGCCAGCTGGGAAATTGACAACTGGAAGGAAAGAGAGCACAGGTGAGGGGCTCAGAAGCTTGCCAGTCCGTCCACAAAGCTCCCAACATGCACTGGCCACACCGGGGAACGGGGTAGCCCTGGATCCAGCCACGGAAGGGAGTGATGCCTGCAGCCTCCTGGCCAGGGCAGCTCTGGAACCTGGGACCGCTTCTCAAGTTCCTTTATTTAATGACAGAGAGGTGATTCCATGATCTCCCCCAGATCATAATATCTGAATAAGAATATTATTAACAAGGAAAACAAGCAAGAAAGGAGAAAGCATCTCAAGCTACAGGGGCGGCCTGGCCTCTGCCTCTCTGTCCCTTGCCAGCACTGGACTGAGCACCTCCAAGGCCCTGCCAGTTCTAGCCGCCTGCGTTCCTATCGAACAAACCTCCCTGTTAAGGCAATGACCATCTTGATGGCCAGCGCGGGCTCTGGAGACAGCTGTGGATAGAGTGCCCGTGCCAACGTGGCATTACCGTGGAGTGCCCGCACCAATGTGGCATTACTGTNNNNNNNNNNNNN	pathogenic	1,277
Variant at chromosome 1, position 5907139, gene NPHP4 (nephrocystin 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']	AAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGTAACTGTTCGGCAATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATAGCCACACCTTCCTTTTACTTTCACGTAGAGACCTAGGGGTAGCTTAACTTTGTTTTCATGGGTAGAGCACAATCTGAGTCAAGCGCTGTGGTATGAAGAACTCATGGGCCACATTCTTCTTTGGTCTCCAAGACAGAATGGTGACAACTGTCTGAGGCCTCAGAGTAAGCAATGCCCCACTCCCACCCACATCCCAGGTAACCCGCCAAGGTCTCTGCCACCTAACTAAGGACAGGCACAGTGCAAAAACCCAAAATGAGGAGCTGTGGAGCCATTCCTTGGTGGAAGGCAAGGCGGCAGGTGGGCGGCACTTACTGCCTGGGCCGGGGAGGCCTGAGAGCCATGGGGTAGCTGTGAAGTAGGCCTGGCCAAGCAGTGCTGAGTCGGGGACCGCGGGGAGGCCGCCAGCTGGGAAATTGACAACTGGAAGGAAAGAGAGCACAGGTGAGGGGCTCAGAAGCTTGCCAGTCCGTCCACAAAGCTCCCAACATGCACTGGCCACACCGGGGAACGGGGTAGCCCTGGATCCAGCCACGGAAGGGAGTGATGCCTGCAGCCTCCTGGCCAGGGCAGCTCTGGAACCTGGGACCGCTTCTCAAGTTCCTTTATTTAATGACAGAGAGGTGATTCCATGATCTCCCCCAGATCATAATATCTGAATAAGAATATTATTAACAAGGAAAACAAGCAAGAAAGGAGAAAGCATCTCAAGCTACAGGGGCGGCCTGGCCTCTGCCTCTCTGTCCCTTGCCAGCACTGGACTGAGCACCTCCAAGGCCCTGCCAGTTCTAGCCGCCTGCGTTCCTATCGAACAAACCTCCCTGTTAAGGCAATGACCATCTTGATGGCCAGCGCGGGCTCTGGAGACAGCTGTGGATAGAGTGCCCGTGCCAACGTGGCATTACCGTGGAGTGCCCGCACCAATGTGGCATTACTGTGTAGCCTCAGGCAAGTCAGCTAACCTCTTTTTGCCTCAGTCTCCTCACCTGTAAAATGGGGGTAATAATAGTACCTAAACTGCAGGACTGTTAGGAGAATTAAATGACAATCCTGGCTAGGGTTTGGCATAGTACCTGGCACACGGTGAGCCTTCTATAAATACTGCAGATATTTGGAAATGAGTGCGGCTTAAAACACTGATGCGGAGGGCTGGGGGCCCACGCACTACTGAAGACACAGATCTCAAACCCGGACTCTAACTCCAGTACACACAGCCAGCACCTGAGACATTCACTGTCAGCAATGATGGCTGGCCCACACCAGGTGCTGGCAGAGAGGCCCCAATGTATGAAGAGGCACTGAGGAATGAATGGGGGGCGGGGTGCATGAAGCATCCCCAGGGGACCCTGGCAGCATCTTCAGGGAGCAGAGGAGATCTTTGGGGCCTACCCAGCTTCCCTCAGACCCTATACGGTATCGTGACCACTCGGGGTCACGTGGAAACTGCTCCAGGGAAAATGCCAGGTTGGGCCAGCAGGGAAGCCTGGGAGGCCGTCCACAGACTTGCGCCTTTAGGTGAATCCAGTATTCTTCACTCCTGATCCAGTTTCCCACTGCAGATGACACACTAAAGCTGCTTCCTTGGAGACAGCCATGGATACTGAATTAGTCAACTTTTCTAGAAAGTCAATTTCCAGGATGATGCTGGCAGACAAAGTCATCAGCAGGAACAAGCCACATCTGACCTCACTGCAAATCACATAGCTAAGGCCAGCCTTGGAGCCACAGGTGAGCGCCACGGGTGTCTCGGGACTCCAGAACGGCAGCCAAGCAGGAGCTCAGCTCAGACCGCTGGCGGGCAACGGCCCAGCGGGAAGGCGCCTCTCCTCCCACTCAGGAAGTTCCAGCGCCACGGGGATCTGTGCGGTCGGACGTGCAACTGCCAGCAGCTTGTGGTTCTCAGCAGTGCCACTGTCTCCACCAGCATCGGCTGCTTGGCCGACAGGGCCAGGGGACACCAATAGCTGCCAGGCACCGCTACTGGTGGAGTTAGTCTGGGAGAGCAAAGAGGGTGAGGACCACACCTCGATGTCTCTCAGAAAAAGCAAAGGCCGTCCAGTCCTGAGAGTTGCCACCATGAGATGCAGCTGCCAGGGAGATGTGGAGACGCCCCATACAGCAGCATAGGGGTTGCAAGCAGCAGCCCCACTAAAAGCCCGCACTGGGAGTCAGAACATCAGGGACAGGCTGCACAGACAGGGTAGGAGGGGACAGCCCCGCCGCCGCCAGCAGGCCCTCCCCAGCCACGCAGAAGCACGCAGGGATCCACTGTGCTTAAGGGGGGACAGAGGGTTTTCTTGCAAGTAATTGACTCTGGAATTCTGAAGGAGGCCGTGGGGGGCCTGGACTTACCCCTGGTCCCACAGGTGAGTTCTGCGGGGCAGCGA	AAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGTAACTGTTCGGCAATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATAGCCACACCTTCCTTTTACTTTCACGTAGAGACCTAGGGGTAGCTTAACTTTGTTTTCATGGGTAGAGCACAATCTGAGTCAAGCGCTGTGGTATGAAGAACTCATGGGCCACATTCTTCTTTGGTCTCCAAGACAGAATGGTGACAACTGTCTGAGGCCTCAGAGTAAGCAATGCCCCACTCCCACCCACATCCCAGGTAACCCGCCAAGGTCTCTGCCACCTAACTAAGGACAGGCACAGTGCAAAAACCCAAAATGAGGAGCTGTGGAGCCATTCCTTGGTGGAAGGCAAGGCGGCAGGTGGGCGGCACTTACTGCCTGGGCCGGGGAGGCCTGAGAGATGGGGTAGCTGTGAAGTAGGCCTGGCCAAGCAGTGCTGAGTCGGGGACCGCGGGGAGGCCGCCAGCTGGGAAATTGACAACTGGAAGGAAAGAGAGCACAGGTGAGGGGCTCAGAAGCTTGCCAGTCCGTCCACAAAGCTCCCAACATGCACTGGCCACACCGGGGAACGGGGTAGCCCTGGATCCAGCCACGGAAGGGAGTGATGCCTGCAGCCTCCTGGCCAGGGCAGCTCTGGAACCTGGGACCGCTTCTCAAGTTCCTTTATTTAATGACAGAGAGGTGATTCCATGATCTCCCCCAGATCATAATATCTGAATAAGAATATTATTAACAAGGAAAACAAGCAAGAAAGGAGAAAGCATCTCAAGCTACAGGGGCGGCCTGGCCTCTGCCTCTCTGTCCCTTGCCAGCACTGGACTGAGCACCTCCAAGGCCCTGCCAGTTCTAGCCGCCTGCGTTCCTATCGAACAAACCTCCCTGTTAAGGCAATGACCATCTTGATGGCCAGCGCGGGCTCTGGAGACAGCTGTGGATAGAGTGCCCGTGCCAACGTGGCATTACCGTGGAGTGCCCGCACCAATGTGGCATTACTGTGTAGCCTCAGGCAAGTCAGCTAACCTCTTTTTGCCTCAGTCTCCTCACCTGTAAAATGGGGGTAATAATAGTACCTAAACTGCAGGACTGTTAGGAGAATTAAATGACAATCCTGGCTAGGGTTTGGCATAGTACCTGGCACACGGTGAGCCTTCTATAAATACTGCAGATATTTGGAAATGAGTGCGGCTTAAAACACTGATGCGGAGGGCTGGGGGCCCACGCACTACTGAAGACACAGATCTCAAACCCGGACTCTAACTCCAGTACACACAGCCAGCACCTGAGACATTCACTGTCAGCAATGATGGCTGGCCCACACCAGGTGCTGGCAGAGAGGCCCCAATGTATGAAGAGGCACTGAGGAATGAATGGGGGGCGGGGTGCATGAAGCATCCCCAGGGGACCCTGGCAGCATCTTCAGGGAGCAGAGGAGATCTTTGGGGCCTACCCAGCTTCCCTCAGACCCTATACGGTATCGTGACCACTCGGGGTCACGTGGAAACTGCTCCAGGGAAAATGCCAGGTTGGGCCAGCAGGGAAGCCTGGGAGGCCGTCCACAGACTTGCGCCTTTAGGTGAATCCAGTATTCTTCACTCCTGATCCAGTTTCCCACTGCAGATGACACACTAAAGCTGCTTCCTTGGAGACAGCCATGGATACTGAATTAGTCAACTTTTCTAGAAAGTCAATTTCCAGGATGATGCTGGCAGACAAAGTCATCAGCAGGAACAAGCCACATCTGACCTCACTGCAAATCACATAGCTAAGGCCAGCCTTGGAGCCACAGGTGAGCGCCACGGGTGTCTCGGGACTCCAGAACGGCAGCCAAGCAGGAGCTCAGCTCAGACCGCTGGCGGGCAACGGCCCAGCGGGAAGGCGCCTCTCCTCCCACTCAGGAAGTTCCAGCGCCACGGGGATCTGTGCGGTCGGACGTGCAACTGCCAGCAGCTTGTGGTTCTCAGCAGTGCCACTGTCTCCACCAGCATCGGCTGCTTGGCCGACAGGGCCAGGGGACACCAATAGCTGCCAGGCACCGCTACTGGTGGAGTTAGTCTGGGAGAGCAAAGAGGGTGAGGACCACACCTCGATGTCTCTCAGAAAAAGCAAAGGCCGTCCAGTCCTGAGAGTTGCCACCATGAGATGCAGCTGCCAGGGAGATGTGGAGACGCCCCATACAGCAGCATAGGGGTTGCAAGCAGCAGCCCCACTAAAAGCCCGCACTGGGAGTCAGAACATCAGGGACAGGCTGCACAGACAGGGTAGGAGGGGACAGCCCCGCCGCCGCCAGCAGGCCCTCCCCAGCCACGCAGAAGCACGCAGGGATCCACTGTGCTTAAGGGGGGACAGAGGGTTTTCTTGCAAGTAATTGACTCTGGAATTCTGAAGGAGGCCGTGGGGGGCCTGGACTTACCCCTGGTCCCACAGGTGAGTTCTGCGGGGCAGCGANN	pathogenic	1,282
Gene NPHP4 (nephrocystin 4) variant at chromosome position 5927667 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']	TTTGTTTTGTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCGTTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCGCCCGCCACCACATCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAACGGTCTCGATCTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGGAATGGGTTGTTTTAAATGATCCTTTATTATGACCCTTTGTTTAGTTTTTTGAAATTATGTGTCCTATGCCTTGAATGCATTCAATTTTATCAAATGAAATTGGAAATTCATTCTAAACCGACTCTGACAGGAAATGCATGCATGCCTACCACCCACCACCACAAGGGATTCTAGTACAAGGGGGACTGTACATTTCAGTGCCGTTTATAAAGATGGGATTATTAATGTACACACTGGTGGTAAACAGAAATCTTGAGAACAAGCTGTTAGGCACAAAATTCAAACACTGAAAAAACAAAACAATTAAAACCATCAAATGCATCACCTCTATGAAAAGAAGGAAAATACTTAATGATGTAGTTTGTCCCAAAGAAATCAACTATTAAGTTTTGGTACCGGAATATTCTTAGATAGCTCAGAGAATCCTGAAAGACCATGTTTATTATGTATTACTATTGTACTTTTAAGTAACTTAATCAAAAATCAGAGTACAGAGTAGGTCCATGGTTTCTGCATCCATGAATTCAACCAGACTTGGGCTGAAAATATTTTTTTTTAAATGTGTCTGCACTGAACACGTACAGACTCTTTTTTTCTTGTCATTACTCCCTAAACAGTACAATTTACATAGCATTTGCACTGTATTAGGTATCTCAGAAAATCATCAACTTCATCAAATTCATCAACTTAGAAATGCATGTGCTGCTTCCACCAACTGTAAAATCAAATTCAACAAGACCAGTTCCCATAAATTAGAATCTCAATCCATGAAGAAAACCCCTCCTGAGTGATGGAAGCACCAGCAGCTTTGTAGCAGGACTTGGGGCCATAGCCGAGCACAGAAAGCAACTCCTCCCTCGACACCCGGGCATCACCAGCTGGAGCCCAGAGGAACACAAAGCTCCCTCCCGGGCTTGCACGTTTGCTCATTCCCTATCTTGCCATCTGGAACAGGCAGAAAGAAGGAAGTCATCACCTGCGACTAGGGATCCTAGAACCTTCAGTGGTGAGAGCTCCAGACGCCTAGAGCCAAGGCCCCATACTCATTCAGGTGGACTACTCCAACACTCCCTCGTACCTTCCGCCCCTCACTTCAGTATAGGTGGAATTCTCAACCAGGACATGGGTCTAAACCAAGAGGCTCTGAGCACAGGGTACTGCCTCAGCAGAAGCAGCTAGGCTGACGGCCAATAAGAACTCTTTAACCTCCTAACCATGTGGACTTGCTGCCACCCACAGGGCCAGGACTCTACCTCTGCTGGCAGCCCTTGCTGCTTGTAGCCAATTGTGACTCCTTTTCTTAAAGCCACAGACTCAGATCACACACTCCTAACTTTCGGGCAGGGCTTCAAGGTGAGTAGACAGACGGCTACTTCAACAGTGCAAACGCAAGGTGGCGGTCCTCGGCTCTCGACCACCCTCTAACTCTCGGGTCCCACATTTGCAGGGCATCCATGTGACGTGTCCTTTTAAATGCTTAGTTGGGGAGCTGTCAAGTAACTGAGCTGACTCTGGGCTGAAGCACAAGCTTCTGGGCCACACTTCATCACTGTCCAATTCTACACCTTGGTATTAAGCAAAAACCCAACTAACAGATTCCATTAATGCAATCTACGACGATTATCTTACAAATGTGGTGATTACCGTACTAGACTAAGTACCTTTCCCCGGGAAGAGATGGAAGTGCTGCCTGCCATGTGCCTGGCCAGTCAGCTCTCTGGAAACACTTACTCGAAGGGGACGTGGGTGGTTTCCTGGAAGGCCGCCGCTCCACTTTGGGGCCACTGACAGGCTCCGTGGGTGCATCCAGGTGTTCTTCTGAGCCCAGCGAGAACTGGAACCGGAGTGTACCCGACTCCACCTGCTTCACCTGCAATGGACCAGAAGAGCAGTGATGGCCACTCCCTTCATCAGCACGCCTATCAGAACGATCCAACCAGGAACAGCAGGCTCTGCCCTAAAACAAAGTCTACGTGAAATCAGAGGCTTCTTGATGCCACATGTTCTCAGATTATAATCAAGTAGTTTGAGCAAAAAGCAATTGGTGTGGCATTAAAAGCCCTGCAGACCATATGATCATGGAATGACCCTTACCCAAGCAGAAATCGCAATCTCTCTCGAGTTGTGAATGTTGTCATTGACCTATGTGAAACTGACATCTTTATTCTGGGTATGGCTCTGTGGGTTTTGGCACATGCACAGATTCACATAACCAGCACCACACCCAGGGTGCAGGCCAGCCCCATCCCCCCAGGGTGCTCCCTTGCCCTGCCCTGCCCCTCTGCAGCCACACCCAGCCCATGCCTAACCCGGGCAATCTATGACTGCTTCCCCAGCACTGTCATTTCGTCTTTTTGAGAATGTCAAAAAAATGTCCAACACATGGAATCACATAATGTATAACTTTTGAGACCAGCTTCTTTCATTTAGCATAAGACTGAGGAGATTCATCCAAGTTGTTACATACACATCAAACTGTTTCTTTTTTTATTACTGAGTGATATTCTATTGTACGGATGTACCAGTTTATTTATCCATTCACTCACAAACATTTGGGTAGTTTCTGGTTTGGGTGATTATAAACAGACCTGCTACAAACACATATGTTTGTGTGAATACAGGTTTCATTTCTCCAAGAGTAGGACTGCTGGGTCATATGGCATATTTAATTTCATAAGGCACTTCCAAACTTTATTTCTGGACTCTCTAGTCTGTTCCATTAACTGAATTCCTTGATACTAATTATATTAATCAGTGTAGCTGTACAGTAAGTGTTTAAACTGTGTAGTATGATTCCTCCAACTTTACTGTTCTTTTTTCAAAACTATTTTGACTCTTCTAATTCCTTTAGCTTTCCATATAAATTTCAGAATCAGCTTGTCTATATCGCCAAAAAAATCCTGCTGAGATTTTGACTGAAACTGCATAAAATCTCTAGATCAATCTTGGGCAGAACTGACAGCTTTACTATGTTGAGTTTCCCAAGACATAAACATGTTACGTCTCTCCAATTATTTAGGTCTTCTTTGATTTCACCTAAGAATAACCACAATGACAACTAGCAAAAGGACAGTTTTATTGTTTTCAGCATACAGATCCCCTAACTATTTTGTTAGATTTAGTTCATGGAGGGCAGGCTTTGTAAACAATACTGTTTCTGTATTTTGCTTTCAATTTTTCAGTGCTAGTATACAGAAATAGGATTGATTTTTCATGTTGACTTCCTGTGTTATCCTGCAACCTCACTAAACCCACTTACTCATTCTAAAAGGACTTTTTTGTAGACTCCTCAGAATCTTTGGCATAGACAATCACGTTTTCTGCAAATAAGGACAGTTTTGTTTCTTCCTTCTAATGTGTAGGTCTTTTGTTTTCTTGACTTACAGCACTGACTACAACTTCCAGTGCAATACTGAACATGACGTTGAATGCTAACAGTGGACATCCTTTACTTGTTCCTAATCTTAGGGGGAAAGCAATCAGTCTTTCACCATTAAGTATGATGTTAACTAAAGAGTTTTTGTAAACATCACTGATTATGCTAAGGAAGTTTTCTTTTATTGCTAGTTTGCTCAGTTTTTAATCATAAACTGATGCTGAATATCGTCAAATGTTTTTTCAGTATCAATTGCCAGGATCATATGGTTTTCCTTCTTTAGGCTGTTACTATAATGAATTACATTTATTGATTTCCAAATAGAAAACAGACTTGCATTCTCTGGATAAAGCTCCACTTGGCTATAGTGTATTATTCTTTTTGCGTATTGCTGGACTCAATCTGCTAATATTTTGTTGAG	TTTGTTTTGTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCGTTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCGCCCGCCACCACATCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAACGGTCTCGATCTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGGAATGGGTTGTTTTAAATGATCCTTTATTATGACCCTTTGTTTAGTTTTTTGAAATTATGTGTCCTATGCCTTGAATGCATTCAATTTTATCAAATGAAATTGGAAATTCATTCTAAACCGACTCTGACAGGAAATGCATGCATGCCTACCACCCACCACCACAAGGGATTCTAGTACAAGGGGGACTGTACATTTCAGTGCCGTTTATAAAGATGGGATTATTAATGTACACACTGGTGGTAAACAGAAATCTTGAGAACAAGCTGTTAGGCACAAAATTCAAACACTGAAAAAACAAAACAATTAAAACCATCAAATGCATCACCTCTATGAAAAGAAGGAAAATACTTAATGATGTAGTTTGTCCCAAAGAAATCAACTATTAAGTTTTGGTACCGGAATATTCTTAGATAGCTCAGAGAATCCTGAAAGACCATGTTTATTATGTATTACTATTGTACTTTTAAGTAACTTAATCAAAAATCAGAGTACAGAGTAGGTCCATGGTTTCTGCATCCATGAATTCAACCAGACTTGGGCTGAAAATATTTTTTTTTAAATGTGTCTGCACTGAACACGTACAGACTCTTTTTTTCTTGTCATTACTCCCTAAACAGTACAATTTACATAGCATTTGCACTGTATTAGGTATCTCAGAAAATCATCAACTTCATCAAATTCATCAACTTAGAAATGCATGTGCTGCTTCCACCAACTGTAAAATCAAATTCAACAAGACCAGTTCCCATAAATTAGAATCTCAATCCATGAAGAAAACCCCTCCTGAGTGATGGAAGCACCAGCAGCTTTGTAGCAGGACTTGGGGCCATAGCCGAGCACAGAAAGCAACTCCTCCCTCGACACCCGGGCATCACCAGCTGGAGCCCAGAGGAACACAAAGCTCCCTCCCGGGCTTGCACGTTTGCTCATTCCCTATCTTGCCATCTGGAACAGGCAGAAAGAAGGAAGTCATCACCTGCGACTAGGGATCCTAGAACCTTCAGTGGTGAGAGCTCCAGACGCCTAGAGCCAAGGCCCCATACTCATTCAGGTGGACTACTCCAACACTCCCTCGTACCTTCCGCCCCTCACTTCAGTATAGGTGGAATTCTCAACCAGGACATGGGTCTAAACCAAGAGGCTCTGAGCACAGGGTACTGCCTCAGCAGAAGCAGCTAGGCTGACGGCCAATAAGAACTCTTTAACCTCCTAACCATGTGGACTTGCTGCCACCCACAGGGCCAGGACTCTACCTCTGCTGGCAGCCCTTGCTGCTTGTAGCCAATTGTGACTCCTTTTCTTAAAGCCACAGACTCAGATCACACACTCCTAACTTTCGGGCAGGGCTTCAAGGTGAGTAGACAGACGGCTACTTCAACAGTGCAAACGCAAGGTGGCGGTCCTCGGCTCTCGACCACCCTCTAACTCTCGGGTCCCACATTTGCAGGGCATCCATGTGACGTGTCCTTTTAAATGCTTAGTTGGGGAGCTGTCAAGTAACTGAGCTGACTCTGGGCTGAAGCACAAGCTTCTGGGCCACACTTCATCACTGTCCAATTCTACACCTTGGTATTAAGCAAAAACCCAACTAACAGATTCCATTAATGCAATCTACGACGATTATCTTACAAATGTGGTGATTACCGTACTAGACTAAGTACCTTTCCCCGGGAAGAGATGGAAGTGCTGCCTGCCATGTGCCTGGCCAGTCAGCTCTCTGGAAACACTTACTCGAAGGGGACGTGGGTGCCACGTCCTGGAAGGCCGCCGCTCCACTTTGGGGCCACTGACAGGCTCCGTGGGTGCATCCAGGTGTTCTTCTGAGCCCAGCGAGAACTGGAACCGGAGTGTACCCGACTCCACCTGCTTCACCTGCAATGGACCAGAAGAGCAGTGATGGCCACTCCCTTCATCAGCACGCCTATCAGAACGATCCAACCAGGAACAGCAGGCTCTGCCCTAAAACAAAGTCTACGTGAAATCAGAGGCTTCTTGATGCCACATGTTCTCAGATTATAATCAAGTAGTTTGAGCAAAAAGCAATTGGTGTGGCATTAAAAGCCCTGCAGACCATATGATCATGGAATGACCCTTACCCAAGCAGAAATCGCAATCTCTCTCGAGTTGTGAATGTTGTCATTGACCTATGTGAAACTGACATCTTTATTCTGGGTATGGCTCTGTGGGTTTTGGCACATGCACAGATTCACATAACCAGCACCACACCCAGGGTGCAGGCCAGCCCCATCCCCCCAGGGTGCTCCCTTGCCCTGCCCTGCCCCTCTGCAGCCACACCCAGCCCATGCCTAACCCGGGCAATCTATGACTGCTTCCCCAGCACTGTCATTTCGTCTTTTTGAGAATGTCAAAAAAATGTCCAACACATGGAATCACATAATGTATAACTTTTGAGACCAGCTTCTTTCATTTAGCATAAGACTGAGGAGATTCATCCAAGTTGTTACATACACATCAAACTGTTTCTTTTTTTATTACTGAGTGATATTCTATTGTACGGATGTACCAGTTTATTTATCCATTCACTCACAAACATTTGGGTAGTTTCTGGTTTGGGTGATTATAAACAGACCTGCTACAAACACATATGTTTGTGTGAATACAGGTTTCATTTCTCCAAGAGTAGGACTGCTGGGTCATATGGCATATTTAATTTCATAAGGCACTTCCAAACTTTATTTCTGGACTCTCTAGTCTGTTCCATTAACTGAATTCCTTGATACTAATTATATTAATCAGTGTAGCTGTACAGTAAGTGTTTAAACTGTGTAGTATGATTCCTCCAACTTTACTGTTCTTTTTTCAAAACTATTTTGACTCTTCTAATTCCTTTAGCTTTCCATATAAATTTCAGAATCAGCTTGTCTATATCGCCAAAAAAATCCTGCTGAGATTTTGACTGAAACTGCATAAAATCTCTAGATCAATCTTGGGCAGAACTGACAGCTTTACTATGTTGAGTTTCCCAAGACATAAACATGTTACGTCTCTCCAATTATTTAGGTCTTCTTTGATTTCACCTAAGAATAACCACAATGACAACTAGCAAAAGGACAGTTTTATTGTTTTCAGCATACAGATCCCCTAACTATTTTGTTAGATTTAGTTCATGGAGGGCAGGCTTTGTAAACAATACTGTTTCTGTATTTTGCTTTCAATTTTTCAGTGCTAGTATACAGAAATAGGATTGATTTTTCATGTTGACTTCCTGTGTTATCCTGCAACCTCACTAAACCCACTTACTCATTCTAAAAGGACTTTTTTGTAGACTCCTCAGAATCTTTGGCATAGACAATCACGTTTTCTGCAAATAAGGACAGTTTTGTTTCTTCCTTCTAATGTGTAGGTCTTTTGTTTTCTTGACTTACAGCACTGACTACAACTTCCAGTGCAATACTGAACATGACGTTGAATGCTAACAGTGGACATCCTTTACTTGTTCCTAATCTTAGGGGGAAAGCAATCAGTCTTTCACCATTAAGTATGATGTTAACTAAAGAGTTTTTGTAAACATCACTGATTATGCTAAGGAAGTTTTCTTTTATTGCTAGTTTGCTCAGTTTTTAATCATAAACTGATGCTGAATATCGTCAAATGTTTTTTCAGTATCAATTGCCAGGATCATATGGTTTTCCTTCTTTAGGCTGTTACTATAATGAATTACATTTATTGATTTCCAAATAGAAAACAGACTTGCATTCTCTGGATAAAGCTCCACTTGGCTATAGTGTATTATTCTTTTTGCGTATTGCTGGACTCAATCTGCTAATATTTTGTTG	pathogenic	1,294
Is the genetic mutation found on chromosome 1 at position 5933177, within the gene NPHP4 (nephrocystin 4), considered benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']	TCTTTTAATTTACGTTATATTTATTTAAAGTATACTTCTTATAGACAGTATATAGTTGGGCTTTGTCTTTCATTAAGCCTGACAATATCTTTTAAACTGGTGTGTTTACACTATTTACACGTAATGTAATTATAGGCATACCTCAAAGATACTACAGGTTCAGTTCCAAACCACTACAATAAAGCAAGTCACTGAATTTTTTGGTTTCCCAGTGCATTTAAAAGTTGTATTTATACTATACTGTAGTCAATAGGTGTGTAATAGCATATGTCTAAAAAAAAAAAAAAAAAAGTACTGTACCTACCTTAATTTAAAAATACTTTATTGCTGGCCGGGTGCAGTGACTCACATCTGCAATCCCAGCACTTTGAGAGGCACACAGATCACCTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCAGGCATGGTGGTGGGCACCTATAATCCCAGCTACTTGGGAGGCTGAGCCAGAAGAATCGCGTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGGTTACAGAGCAGGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAACTTTCTTGCTAAAAAAATGCTAACCATTGTGCCATTATAGGTATGGTGACTCACGCCTATAATCCCAACACTCTGGGAGGCCAAGGTAGGAGGATCCCTTGAACCCAGGAGCTCAAGATGATCCCAGGAAACACAGCAAGACCTCAACTCTACAAAAATTAAAAAATTACCCAGGCATGGTGGCACATGCCTGTAGTCCTAGCTACTCAGGACACTGAGGTGTGAGGATTGCTGGAGCATAGGAGTTCAAGGCTGCAGTGAACTATGATCGTGCCACGCACTCCAGCCAGGGCAACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAATGCTAAGGATCATCTAAGCCTTCCAGAACATTGTAATCTTTTTGCTAGTGGAGGGTTGTGCCTTGATATTGATGGCTGCTGCCTAATCAGAGTAGTGGTTGCTGAAGGTTGGGATGCCTGCAGAGCTTTCATAAAACAAGACCACAATGCAAGTTTGCTCCATCAATTGACTTTTCATGTCATAAAAGAGTACCATGCAATGCTATTTGACAGTATTTTACCATAGGCAGAACTTTCAAAATCATAGTCAATCTTCTCAAACCTTGCCATTGCTTTATCAACTAAGTTTAGGTAATATTCTAAATATTACATCTATATACCTTTAAAATCTCACCAAACACTGCAGCCGAGCAGAAACTCTGCCACACCTCGGAGAGCCCAACGGACTCTAGCCATCTGCCAGAGCAGGGTTTCGCACTGTCTGTGGTGCCCTGGGTCACCGCTAACCATCCTCCAACACCGCCAATGGGGCCAAGGAGGCTGGGGATGAGACCCTCATACACACTTCAACCCACTTCGCTCTACTTGTTTTTGCCGTCTTAATTGGGGTGCAGAGAACATTTCATTTCAGAATTAAAAAAAAAAAAAAAACCTGAGAATCTCTGCTGTGGTCCTACCCCTTGGTACACACCCAAGGTCCAACAAGCATTAGTGATAAGTCACAAAGATAAGCCAGGGCTAGAAACCAGAACCGGCTCCCACCTCAGCACTCATCCACCAAAAAACCTACTGGTAAAGGCCACATGAGGCCCAAGCTCCAATGCTCCAAACGTGCACGCCACACAGGTGAATCTTGCTGCAAAGTGTGTACACATCAGCTGGAGGTTCACCAAGTCATCCCAGGAAATCAGTATGTGAACAGCAATAAAACCCATGATAAAACTGGTCTTATCAGGTTTACATAAAAACATCATACTAATCTTTCTAAAGGCATACCCATGACATGAAAAAAATTCTGTAAATGAAACATCTGCAAACATATTTGTGAACTTTTGCTTTTGAAAATGAATGAACTTGCTAGAAGCTCACCGGAGATGCATAAGAAATACCTAATAATTTACCTCTTCAGAGCTCATGCTGGCTGAGGGTACCTTGTAGACCAGACAGTGCGAGGGGTTGGGCTGGATCCCACCCTGCAGAGGCAGGGTCACCCTTCCAGAATCAGCTTCCAGCAAGGGGTTCCAAACAGCCCAGCGGACCATGTGCATGCATGCCAGGTTGGACAGAGAGGTGACCGAAGCTGCCTAGAATTAAAACAAAGCACATCGGTGTATGAGTTATCACAGAAGTCACCTGGAGAGGGGAAATCAACAGTGCTTTCATGTGTAAAATTCAACGAGAGCTCAGTGTAGCAAGGGGCAGGGATCATCAGTTGCATTTTATAAAAGGAACTAGGGCAGGAGGAGGACATGGCATCCACAGTGCAGACAGTAGGGCACAGATAGTCTTCAGTTACATGACCCCACCGACCCAGTCAGGACCCCTGCCCACCCATGAGTCTCCTTTTCTGGCCCAAGGTAGTGATGGCTTCCCCCTTAGAGACCAGCACTGTTTTATGAACCCCTGTTCCCATAAGGATCTTTCCATAGGTTTGTAAACACTCTGCACCTTGCCAACACCAACTCAAATCCGTCAGGAAAATACTAGGAACAGCACTTTGAATTCCTAATCAGAAATTTGGTAAAATAACGAAGAATGCACATGTATATTCAACTCAGCATTATTAGCACACATTTTCTCCACAAAGCTCCAGCTTACAATAGCACATTTCGTATCTGTAGCTTTCAGGAAATTGGGAAATCGATCGGGTCAAATTCCAGGCATTGTTCCTTCTTTCTGCTTCTCTCTGGCTGGCCAAATGGAAGGAATGAGGACACTGTGAAAACCAATCCCTTGGGTTACAACCACATTAAAGTCATTGTCACAAACACGGTTTCACGGCTTGACTGAGTAAAGAGTTTTAAAATTACCAACTTTCATCCATTTACTTAAAAAGAAGTAGGACTAAAGCTAAACCCCGGTCTTTTTTGGACCCCAAAGTCCAGCAGAGCCACCTTGTTGAAGAGGACTCCAGAGGTGATCAGCTCTGAACCAAGGCCCTGCCTGCAGATCCTGCAGGCTCCCCTGGTGGGTGGAGCACACTTAAGTCACCAGGAAGCCGATTAGCCAGAGGCCCATGGGGTACAGGCAACAGCGGGTCCGACCAGGAGCCCCAGTTAGAGCTCTTTCCACTCCTAAGATCACAGCTGCACTGATCAGTAAGTGCTGCGGAGCGCTGCCTAGACCAGAGCCACCGGAACAGCCCAGAGGAAGGAGGAGCAGCTGTCCACTTCCACCTGGGACTTCCAGCCTCTGTGTCCCATGCGCAGGAGAAACAACCCCCAAGCAGGAGGTGGTGACTGGACCATGAGCACAGTGCTCCACTTCCTACAGTGCTCCACTTGCTACGGCTTCCCCCCAGCCCTGGCTAACAGAGACAGCTGCACCCTTCAGGGGTGACAAAAGTAAAATGGGGTGGCTCCCCACTGCTCCCAGTCCCGGGCTTGGCTAAGGCAGCCAAGGGCATCCCTCTTAACACTGCTGCCTGAGGGCATGAACCCAGGCAGCATCGCAAGCGCAGCCATGGTCACAGCGAGGAGGTGGCCCGGAAGGAGGACGCGTCCCACTCTTGGTGACGAATGGACGCCCATGCCCTGCCTAGGATGGGTGGAGCACAGCATCCACCAGGAACAGAGACACCCAGAGGATCCAGGAATTTGCGCTGCCCTGGGAGCGAAGGAGGAGGCAAGACTCCAGTGGTGGTGGCCAGGGGTCCTAAGGGACTTTGCTTATTTGGCTGGACATGCCAGTGGGGAACAGCCACACCAGTGTCACTGCCCAGACTGCACTCAGGTCCCACACAGATCCCCGCATGCATGCGTGCTCTCAAGGCCTCTAAAATCCGGACACAGATGGCCCCATGGTCTCTACTGGGCTAAACCACAGCCAACTTCATATACAAGCAGATGTGAATACAGAAAAGAAAACAGTTCTTGTTTCTTCCAAGTTAGCCTCTTCCAGACTGTTCCTGCCAGATGATATCCCATCCTGTTATATCCTAATAAAAATTTAGAATCGGCATCTTGTTTCACATTAATCT	TCTTTTAATTTACGTTATATTTATTTAAAGTATACTTCTTATAGACAGTATATAGTTGGGCTTTGTCTTTCATTAAGCCTGACAATATCTTTTAAACTGGTGTGTTTACACTATTTACACGTAATGTAATTATAGGCATACCTCAAAGATACTACAGGTTCAGTTCCAAACCACTACAATAAAGCAAGTCACTGAATTTTTTGGTTTCCCAGTGCATTTAAAAGTTGTATTTATACTATACTGTAGTCAATAGGTGTGTAATAGCATATGTCTAAAAAAAAAAAAAAAAAAGTACTGTACCTACCTTAATTTAAAAATACTTTATTGCTGGCCGGGTGCAGTGACTCACATCTGCAATCCCAGCACTTTGAGAGGCACACAGATCACCTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCAGGCATGGTGGTGGGCACCTATAATCCCAGCTACTTGGGAGGCTGAGCCAGAAGAATCGCGTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGGTTACAGAGCAGGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAACTTTCTTGCTAAAAAAATGCTAACCATTGTGCCATTATAGGTATGGTGACTCACGCCTATAATCCCAACACTCTGGGAGGCCAAGGTAGGAGGATCCCTTGAACCCAGGAGCTCAAGATGATCCCAGGAAACACAGCAAGACCTCAACTCTACAAAAATTAAAAAATTACCCAGGCATGGTGGCACATGCCTGTAGTCCTAGCTACTCAGGACACTGAGGTGTGAGGATTGCTGGAGCATAGGAGTTCAAGGCTGCAGTGAACTATGATCGTGCCACGCACTCCAGCCAGGGCAACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAATGCTAAGGATCATCTAAGCCTTCCAGAACATTGTAATCTTTTTGCTAGTGGAGGGTTGTGCCTTGATATTGATGGCTGCTGCCTAATCAGAGTAGTGGTTGCTGAAGGTTGGGATGCCTGCAGAGCTTTCATAAAACAAGACCACAATGCAAGTTTGCTCCATCAATTGACTTTTCATGTCATAAAAGAGTACCATGCAATGCTATTTGACAGTATTTTACCATAGGCAGAACTTTCAAAATCATAGTCAATCTTCTCAAACCTTGCCATTGCTTTATCAACTAAGTTTAGGTAATATTCTAAATATTACATCTATATACCTTTAAAATCTCACCAAACACTGCAGCCGAGCAGAAACTCTGCCACACCTCGGAGAGCCCAACGGACTCTAGCCATCTGCCAGAGCAGGGTTTCGCACTGTCTGTGGTGCCCTGGGTCACCGCTAACCATCCTCCAACACCGCCAATGGGGCCAAGGAGGCTGGGGATGAGACCCTCATACACACTTCAACCCACTTCGCTCTACTTGTTTTTGCCGTCTTAATTGGGGTGCAGAGAACATTTCATTTCAGAATTAAAAAAAAAAAAAAAACCTGAGAATCTCTGCTGTGGTCCTACCCCTTGGTACACACCCAAGGTCCAACAAGCATTAGTGATAAGTCACAAAGATAAGCCAGGGCTAGAAACCAGAACCGGCTCCCACCTCAGCACTCATCCACCAAAAAACCTACTGGTAAAGGCCACATGAGGCCCAAGCTCCAATGCTCCAAACGTGCACGCCACACAGGTGAATCTTGCTGCAAAGTGTGTACACATCAGCTGGAGGTTCACCAAGTCATCCCAGGAAATCAGTATGTGAACAGCAATAAAACCCATGATAAAACTGGTCTTATCAGGTTTACATAAAAACATCATACTAATCTTTCTAAAGGCATACCCATGACATGAAAAAAATTCTGTAAATGAAACATCTGCAAACATATTTGTGAACTTTTGCTTTTGAAAATGAATGAACTTGCTAGAAGCTCACCGGAGATGCATAAGAAATACCTAATAATTTACCTCTTCAGAGCTCATGCTGGCTGAGGGTACCTGTAGACCAGACAGTGCGAGGGGTTGGGCTGGATCCCACCCTGCAGAGGCAGGGTCACCCTTCCAGAATCAGCTTCCAGCAAGGGGTTCCAAACAGCCCAGCGGACCATGTGCATGCATGCCAGGTTGGACAGAGAGGTGACCGAAGCTGCCTAGAATTAAAACAAAGCACATCGGTGTATGAGTTATCACAGAAGTCACCTGGAGAGGGGAAATCAACAGTGCTTTCATGTGTAAAATTCAACGAGAGCTCAGTGTAGCAAGGGGCAGGGATCATCAGTTGCATTTTATAAAAGGAACTAGGGCAGGAGGAGGACATGGCATCCACAGTGCAGACAGTAGGGCACAGATAGTCTTCAGTTACATGACCCCACCGACCCAGTCAGGACCCCTGCCCACCCATGAGTCTCCTTTTCTGGCCCAAGGTAGTGATGGCTTCCCCCTTAGAGACCAGCACTGTTTTATGAACCCCTGTTCCCATAAGGATCTTTCCATAGGTTTGTAAACACTCTGCACCTTGCCAACACCAACTCAAATCCGTCAGGAAAATACTAGGAACAGCACTTTGAATTCCTAATCAGAAATTTGGTAAAATAACGAAGAATGCACATGTATATTCAACTCAGCATTATTAGCACACATTTTCTCCACAAAGCTCCAGCTTACAATAGCACATTTCGTATCTGTAGCTTTCAGGAAATTGGGAAATCGATCGGGTCAAATTCCAGGCATTGTTCCTTCTTTCTGCTTCTCTCTGGCTGGCCAAATGGAAGGAATGAGGACACTGTGAAAACCAATCCCTTGGGTTACAACCACATTAAAGTCATTGTCACAAACACGGTTTCACGGCTTGACTGAGTAAAGAGTTTTAAAATTACCAACTTTCATCCATTTACTTAAAAAGAAGTAGGACTAAAGCTAAACCCCGGTCTTTTTTGGACCCCAAAGTCCAGCAGAGCCACCTTGTTGAAGAGGACTCCAGAGGTGATCAGCTCTGAACCAAGGCCCTGCCTGCAGATCCTGCAGGCTCCCCTGGTGGGTGGAGCACACTTAAGTCACCAGGAAGCCGATTAGCCAGAGGCCCATGGGGTACAGGCAACAGCGGGTCCGACCAGGAGCCCCAGTTAGAGCTCTTTCCACTCCTAAGATCACAGCTGCACTGATCAGTAAGTGCTGCGGAGCGCTGCCTAGACCAGAGCCACCGGAACAGCCCAGAGGAAGGAGGAGCAGCTGTCCACTTCCACCTGGGACTTCCAGCCTCTGTGTCCCATGCGCAGGAGAAACAACCCCCAAGCAGGAGGTGGTGACTGGACCATGAGCACAGTGCTCCACTTCCTACAGTGCTCCACTTGCTACGGCTTCCCCCCAGCCCTGGCTAACAGAGACAGCTGCACCCTTCAGGGGTGACAAAAGTAAAATGGGGTGGCTCCCCACTGCTCCCAGTCCCGGGCTTGGCTAAGGCAGCCAAGGGCATCCCTCTTAACACTGCTGCCTGAGGGCATGAACCCAGGCAGCATCGCAAGCGCAGCCATGGTCACAGCGAGGAGGTGGCCCGGAAGGAGGACGCGTCCCACTCTTGGTGACGAATGGACGCCCATGCCCTGCCTAGGATGGGTGGAGCACAGCATCCACCAGGAACAGAGACACCCAGAGGATCCAGGAATTTGCGCTGCCCTGGGAGCGAAGGAGGAGGCAAGACTCCAGTGGTGGTGGCCAGGGGTCCTAAGGGACTTTGCTTATTTGGCTGGACATGCCAGTGGGGAACAGCCACACCAGTGTCACTGCCCAGACTGCACTCAGGTCCCACACAGATCCCCGCATGCATGCGTGCTCTCAAGGCCTCTAAAATCCGGACACAGATGGCCCCATGGTCTCTACTGGGCTAAACCACAGCCAACTTCATATACAAGCAGATGTGAATACAGAAAAGAAAACAGTTCTTGTTTCTTCCAAGTTAGCCTCTTCCAGACTGTTCCTGCCAGATGATATCCCATCCTGTTATATCCTAATAAAAATTTAGAATCGGCATCTTGTTTCACATTAATCTN	pathogenic	1,297
Chromosome 1, position 5948220, gene NPHP4 (nephrocystin 4): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']	TTGGAACAAACGCCCCATGGAAAAGGCGGAACTGCATTATTGACTTTTTCAAACAGAAAACTAAATCTTAAGAACAGCAGGATTTGGGTTTCTCAAAGAATCTACATTAATATAAATGATGTCCACATATTTTATTTCTTTCAACTGAACCTATAAATTCTTACTCTTAGTGTTCTATAGGTATATATAAAGTTCCCTATGAGAAACCATCTCTCATTTGTGCAAACTCAAGCTTTACCACACTACTGTCATATAAAAATACATTAAAATGGCCTCATTTTTCAAAATAATTAGCGATTCAATAATCATGAATTAACGCTATTATGATACATGAAACTTACTGACCTATGCATTACTCCCAGCCAGCAGAATGCACCTGTGATTTGTGAAATATGTATTTGATCTTCGTCCAGTTTCCTGGTATACAACTCCTGAAACCCCCGGAATCTCCGAAGTGCTATCTTTTGTGTGCTAATGAGATGACTGTGGCTGGTAGCCCCTAGGTGGCTTCAGGATGGGGCTGCTCACAGAAAGACCAAGGCAGGGGGAGGAGAGTGACTGAAGGTTACATTGATCATCAATGGCCAATGTTTAATCAATTATGCCTACGTAATAAAGTTTTCATCAAAACCCAAAAGGACTGACTTCAGAGAGCTCTGGACAGCTGAACCCATGGAAGTGCCCAGAGGGCGGTGCCCAGGAGGGCATGGGAGCTCCAAGTCCTTCCCACATTCTTTGCCCTCTCCATCTCATCTGTATCCTTTGTAACATTCCTTACAATCAGCTGATAAATGTCAGTAAAGTGATTTTTACTTATTATTTATAATAATCATGCCTGTTTTTAATGGAAAAAGCATTCATGCCCACTACATTTATCCTCACACACAGAGTTCACCACCAGAGGAAACCGAGTGCAAAAGGGCTGTTCTTACATTGCCGTCCACTCCTGCAGGGCTGCTGAACACGTACTCCAGCTGGAAGATGACCGCAAATGCAGGGTGGCCGACCATCTCTGGGAGGCGGAGGCGGCTTCTCAAAACCAGAGCTTGGCTCCCGGAGCTGGGTCAGAAACACAAACCAGGGACACATTAGAGCTCGAGCTCCCATCCTTCCCGCATCCACGTCGACCACTGTCAGAACAGTCAAGGGGACACCCTGGGGGACACAGGGGTGCTGCTGCAACAGCAAGTCCACCATGTAACACTGCACGCTCTCCCAAATGATTCAGAAATTCCCCAAAACGCTGCTTTTTAAGAGATGGGGGTCTCACTAGGCTGCCATGACTGGTCTCAAACTCCTGAGCTCAAGCAATCCTCCCGCCTCAGCCTCTCATTGCTCTTTCAACGCATTTCCAAATTACCAAAGCTTGCCTGCAGGCCTGATACGGCCAAGTTACCAGGAAATGCCACAGAGGATGGAGGCTCCTTCCTCAAGGCTGGCCTACGGCAGAGGACACCTGGCCTCTGCCTGGCACCATGAGAGAGGAAAGGCATGACGCCCTGCAGTGATGTCTGTGACACCTGATTTGGGAAGCACTGGATTAAACAGAGCAGCAGGTCTTGCTGCCCCCTGACTCTCCGTCCTATGAGAAACTAATCACAGGGCACGCCTAGAAGGCAGCATGCAAGGCCTCCGTAGACCCTCAGCAGCCGCAGCTGGAAGCATCCATAATGCTAACCCCCAAATTGTCAGAGCACAAAAGGAAAAAAAAAGGGGGGGGCTTTTTCCAAACTTCCAACTCCAAAGTTTGTTCCTAATGGGCACAACTTCCAAGAGGAAAGAAACACAAGGAAGAACTCCCACGTGGGTGAGTCAACACCTGACATGCACAAATGACCTCATTTCATCGTGATCCCTTGCACATCCCCACCCATCCCTGGGGACCCAAGAGACAATACCTGGTCTTGGAAGAGGAGACCACTTTCCTGCTGAAGCTAGCTGAGCGCGTCAAGGCCACATCCATCTCAGGCACCAGTACAACGACCTGCGGCCTCTGCACGAAGCCCAGACCATTGTGCACGCCCACACGCAGGCGCCGCTCCAGGATCTCCAGGGCACCACCGTCCAGTGGGCCACATCCCTGGAAGAGGCACAGAAGGAATGAGCCCCGGCACAGACGGAAAGAGGGAGCTCGCCAGAAGTCCCTGGGGGAGGCGAGCAGAGAGAAGAAACTGGAGCAGAAGTTGCAGATAACTGCAGATCAGATGATGCTTAGTCAAGATGAGTGCAAGCAAATGACAGATACAGCACCCAATCCCAGCCACTGGCCTTGGGGCACTGCCCGGGCAGTTTTGGCATTTCCAACACAGCATGATCCTCTCAGCAACGCACACCCTCAGATGCCTCGATCCCCAAAACCCGACACTAGCTTTCCAAGGCTGGGCTGACCATTCTCAAGATGCAGCAAACTCGTACTTGGCTCCTTCAAGACTCCTCCAAGGTCCCACAGCCCACTCCCCCAGAGCCCCCCTTTCCCAGAGGCTGCTTCCCCAGAGCCCCCTTCCCTGGGGCCCAATTCCCTGGACGACGATGGAGAGGTGCTCAGAGGCAGAGCTCATCACATTTCAACTCTGTCTACCCAGAGACCTGAGACTGGGTGTACAAAGGGAAACATGTTTAGGCACTAAGTCATAAACCAATAAAAACAGAACCAGCCCCAAAGTGGTCACTCGATATTAAAGTGTTTCATCTTAACAAAAATGTACAGGCGCTATAACAAATGAACAAGGATATTCCCCTGGCTATTAGTGTTTATTAAATTATGTGATCTTTGCAAAATGATCCTCAAATTTTCAAGTTTTCTTTACTGTCCATTAATCAAGCTGAACAGACCTAAATTCAGCCTATTAGTCTTTGGATAACGAAAATAAAACTATGCAGATAACTGAGTATCTGCCAGTTGGATTGGAACAAAAATACAAAGATAGTAAAAATACACAATAAAGTGATTTTTATGGGACTGTATAAAATTCAACAATGATATTCCTAAAACAACTCTACCCTCACACAATCCGCCCTGACAAACAAGAAAACAGCAGGAACTACACCAAGGAAACGGATGTTGGTGTTTCAATCCTATTCTCTGCTTTGTGTTTACATAAGACCATATTATGTAGAACTGCATTTTCAAGAACGGGTAGGGAGCAAACAAGTCCAGCTCATTCACATACATACACACACACACACACACACACACACAACTTGCTAACTTCATAGACTACTAGGATGAGCACCTGAATCATTCATTCTCACAACTAAATAGTACAGCCCTCCTATGTGCCAAACACCGTTCATGCACATCACGTGTCATTGTAAACAAAACAAAGTCCCTGTCCTGGTGACACTCACCACAGGAGACCGACAATAACAGATAAGAAGGCCAGCTGCTCCCAGGAAGGGCTGAGCACCCGGGAGGAACGCGGGGTGACAGCTGGAGACACGGTGGCAAGGGCGGGGAACAGCACCCCCGCAGGACAGTCAGAGGACCCCGTCCAGACCTGAAGCCTGAGGGGAAACAAGCAGAGATGTGCAGGAAGAACATTCAGGAAAGTCAGCTACATGCTCCAGGACCCATGCAGGGACAAGCATGAGTCCGAGGCCACCTAGGCAGAGGCATGCCTGAATCCGGGACCACAAAACAGGCCCAGGAAGCAGCACACAGTGAAGTAGGGAAACCAGCAAAGACCAAACCATGACCAGGAGGCAGCACATAGTGAGGCAGGGGAAACCGGCAAAGACCAAACCACGTGCATCTTGGAGGACCAGGAGCCTAGGTGTCAGTCCAAGGGCAATGAGAAGCCAGCAGCAGGTTTTAAACACAGAAGAAAAATGGCTGAATTTATGTGGCCTCTCCTGTGGCAGCCAGTCTGGGCTTGCTCTCATGGAGGCAGATGTTTAAGAGAGGAGTTTAAGAGAGGGTCCCTAAAAGTCCAATTACACTTCATCTTACCCAAAAGGCCGAGAAGCAATGAATTTATGTTTTTAAAAGACCTCTTTGACTACTGAGTGAAAAAAATGTTCTCTGGGACTTTCAAGTGAACATGAGGGACACTTCCTCAGAGAATTTCCTTCCCCCAATACCTAAGGAGCAAAATAT	TTGGAACAAACGCCCCATGGAAAAGGCGGAACTGCATTATTGACTTTTTCAAACAGAAAACTAAATCTTAAGAACAGCAGGATTTGGGTTTCTCAAAGAATCTACATTAATATAAATGATGTCCACATATTTTATTTCTTTCAACTGAACCTATAAATTCTTACTCTTAGTGTTCTATAGGTATATATAAAGTTCCCTATGAGAAACCATCTCTCATTTGTGCAAACTCAAGCTTTACCACACTACTGTCATATAAAAATACATTAAAATGGCCTCATTTTTCAAAATAATTAGCGATTCAATAATCATGAATTAACGCTATTATGATACATGAAACTTACTGACCTATGCATTACTCCCAGCCAGCAGAATGCACCTGTGATTTGTGAAATATGTATTTGATCTTCGTCCAGTTTCCTGGTATACAACTCCTGAAACCCCCGGAATCTCCGAAGTGCTATCTTTTGTGTGCTAATGAGATGACTGTGGCTGGTAGCCCCTAGGTGGCTTCAGGATGGGGCTGCTCACAGAAAGACCAAGGCAGGGGGAGGAGAGTGACTGAAGGTTACATTGATCATCAATGGCCAATGTTTAATCAATTATGCCTACGTAATAAAGTTTTCATCAAAACCCAAAAGGACTGACTTCAGAGAGCTCTGGACAGCTGAACCCATGGAAGTGCCCAGAGGGCGGTGCCCAGGAGGGCATGGGAGCTCCAAGTCCTTCCCACATTCTTTGCCCTCTCCATCTCATCTGTATCCTTTGTAACATTCCTTACAATCAGCTGATAAATGTCAGTAAAGTGATTTTTACTTATTATTTATAATAATCATGCCTGTTTTTAATGGAAAAAGCATTCATGCCCACTACATTTATCCTCACACACAGAGTTCACCACCAGAGGAAACCGAGTGCAAAAGGGCTGTTCTTACATTGCCGTCCACTCCTGCAGGGCTGCTGAACACGTACTCCAGCTGGAAGATGACCGCAAATGCAGGGTGGCCGACCATCTCTGGGAGGCGGAGGCGGCTTCTCAAAACCAGAGCTTGGCTCCCGGAGCTGGGTCAGAAACACAAACCAGGGACACATTAGAGCTCGAGCTCCCATCCTTCCCGCATCCACGTCGACCACTGTCAGAACAGTCAAGGGGACACCCTGGGGGACACAGGGGTGCTGCTGCAACAGCAAGTCCACCATGTAACACTGCACGCTCTCCCAAATGATTCAGAAATTCCCCAAAACGCTGCTTTTTAAGAGATGGGGGTCTCACTAGGCTGCCATGACTGGTCTCAAACTCCTGAGCTCAAGCAATCCTCCCGCCTCAGCCTCTCATTGCTCTTTCAACGCATTTCCAAATTACCAAAGCTTGCCTGCAGGCCTGATACGGCCAAGTTACCAGGAAATGCCACAGAGGATGGAGGCTCCTTCCTCAAGGCTGGCCTACGGCAGAGGACACCTGGCCTCTGCCTGGCACCATGAGAGAGGAAAGGCATGACGCCCTGCAGTGATGTCTGTGACACCTGATTTGGGAAGCACTGGATTAAACAGAGCAGCAGGTCTTGCTGCCCCCTGACTCTCCGTCCTATGAGAAACTAATCACAGGGCACGCCTAGAAGGCAGCATGCAAGGCCTCCGTAGACCCTCAGCAGCCGCAGCTGGAAGCATCCATAATGCTAACCCCCAAATTGTCAGAGCACAAAAGGAAAAAAAAAGGGGGGGGCTTTTTCCAAACTTCCAACTCCAAAGTTTGTTCCTAATGGGCACAACTTCCAAGAGGAAAGAAACACAAGGAAGAACTCCCACGTGGGTGAGTCAACACCTGACATGCACAAATGACCTCATTTCATCGTGATCCCTTGCACATCCCCACCCATCCCTGGGGACCCAAGAGACAATACCTGGTCTTGGAAGAGGAGACCACTTTCCTGCTGAAGCTAGCTGAGCGCGTCAAGGCCACATCCATCTCAGGCACCAGTACAACGACCTGCGGCCTCTGCACGAAGCCCAGACCATTGTGCACGCCCACACGCAGGCGCCGCTCCAGGATCTCCACCGTCCAGTGGGCCACATCCCTGGAAGAGGCACAGAAGGAATGAGCCCCGGCACAGACGGAAAGAGGGAGCTCGCCAGAAGTCCCTGGGGGAGGCGAGCAGAGAGAAGAAACTGGAGCAGAAGTTGCAGATAACTGCAGATCAGATGATGCTTAGTCAAGATGAGTGCAAGCAAATGACAGATACAGCACCCAATCCCAGCCACTGGCCTTGGGGCACTGCCCGGGCAGTTTTGGCATTTCCAACACAGCATGATCCTCTCAGCAACGCACACCCTCAGATGCCTCGATCCCCAAAACCCGACACTAGCTTTCCAAGGCTGGGCTGACCATTCTCAAGATGCAGCAAACTCGTACTTGGCTCCTTCAAGACTCCTCCAAGGTCCCACAGCCCACTCCCCCAGAGCCCCCCTTTCCCAGAGGCTGCTTCCCCAGAGCCCCCTTCCCTGGGGCCCAATTCCCTGGACGACGATGGAGAGGTGCTCAGAGGCAGAGCTCATCACATTTCAACTCTGTCTACCCAGAGACCTGAGACTGGGTGTACAAAGGGAAACATGTTTAGGCACTAAGTCATAAACCAATAAAAACAGAACCAGCCCCAAAGTGGTCACTCGATATTAAAGTGTTTCATCTTAACAAAAATGTACAGGCGCTATAACAAATGAACAAGGATATTCCCCTGGCTATTAGTGTTTATTAAATTATGTGATCTTTGCAAAATGATCCTCAAATTTTCAAGTTTTCTTTACTGTCCATTAATCAAGCTGAACAGACCTAAATTCAGCCTATTAGTCTTTGGATAACGAAAATAAAACTATGCAGATAACTGAGTATCTGCCAGTTGGATTGGAACAAAAATACAAAGATAGTAAAAATACACAATAAAGTGATTTTTATGGGACTGTATAAAATTCAACAATGATATTCCTAAAACAACTCTACCCTCACACAATCCGCCCTGACAAACAAGAAAACAGCAGGAACTACACCAAGGAAACGGATGTTGGTGTTTCAATCCTATTCTCTGCTTTGTGTTTACATAAGACCATATTATGTAGAACTGCATTTTCAAGAACGGGTAGGGAGCAAACAAGTCCAGCTCATTCACATACATACACACACACACACACACACACACACAACTTGCTAACTTCATAGACTACTAGGATGAGCACCTGAATCATTCATTCTCACAACTAAATAGTACAGCCCTCCTATGTGCCAAACACCGTTCATGCACATCACGTGTCATTGTAAACAAAACAAAGTCCCTGTCCTGGTGACACTCACCACAGGAGACCGACAATAACAGATAAGAAGGCCAGCTGCTCCCAGGAAGGGCTGAGCACCCGGGAGGAACGCGGGGTGACAGCTGGAGACACGGTGGCAAGGGCGGGGAACAGCACCCCCGCAGGACAGTCAGAGGACCCCGTCCAGACCTGAAGCCTGAGGGGAAACAAGCAGAGATGTGCAGGAAGAACATTCAGGAAAGTCAGCTACATGCTCCAGGACCCATGCAGGGACAAGCATGAGTCCGAGGCCACCTAGGCAGAGGCATGCCTGAATCCGGGACCACAAAACAGGCCCAGGAAGCAGCACACAGTGAAGTAGGGAAACCAGCAAAGACCAAACCATGACCAGGAGGCAGCACATAGTGAGGCAGGGGAAACCGGCAAAGACCAAACCACGTGCATCTTGGAGGACCAGGAGCCTAGGTGTCAGTCCAAGGGCAATGAGAAGCCAGCAGCAGGTTTTAAACACAGAAGAAAAATGGCTGAATTTATGTGGCCTCTCCTGTGGCAGCCAGTCTGGGCTTGCTCTCATGGAGGCAGATGTTTAAGAGAGGAGTTTAAGAGAGGGTCCCTAAAAGTCCAATTACACTTCATCTTACCCAAAAGGCCGAGAAGCAATGAATTTATGTTTTTAAAAGACCTCTTTGACTACTGAGTGAAAAAAATGTTCTCTGGGACTTTCAAGTGAACATGAGGGACACTTCCTCAGAGAATTTCCTTCCCCCAATACCTAAGGAGCAAAATATNNNNNNNN	pathogenic	1,305
Considering the genetic mutation at chromosome 1, position 5978356, impacting NPHP4 (nephrocystin 4): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Nephronophthisis', 'Nephronophthisis_4']	TGACGGCATGCTTCTGAGCCGATGCCTGGCCACGGGAAGCGCCTCCCGGTGAAGGATGGCTAACTTCACCACCCGCCGCATGGCTGTCACAACACCAGGTTTCGGGGGGCTCACTGTGCACATCTGAGAAAGCTAAAGCTAAACAGCTCTATCCCCAGCAGTTGGTCTGGCATTGCCAGCACCGGGAACTCATGGCGAGCCTCCTGCCACAGCGCAGGCCCGAGGGGACCCCCTGCCCGCGCTGAAACAGCACTCTAAGGGTTCATCCGCAGTCACACTCATGAAACCTTTCCTGACACGGCTGGCCAGAGAGACCTCTGAGAGGTATTTGCATTAGCTGTTTGACAACCTTAATGTCAGACACATCCTTAGCTGTCCAGACATACACTCTAGCAAGGCTTTTTATTGAAGCTTCGTGACCTCTGGGGTCATTCTCTCCCTCTACTACCCATGGGAGGAAGGGCAAGAGTCAGGACCCATCCATGTCAAGACACACATAATCCAAGCGCTGGGTGATGGTGGGGTACGGAGAGCAACGAGCTCGTGGCCCTAGGTGGGGGTGCTGACTGGCCAGAGCAGGCCCCCATGGGAAAGGCACACCTGGGCAGTGGTTACCTAGAGTAACGTCTCAAAGGACGGCCACTGTCACCGCCACTGTTACTCATCATACAAACTGTCCCAATACCAGGCCTCTTGGGGCCTCCTTCTATATACCTAAGATCAAACCAAGACAGCTGAGACCCTCTCATCACCTCTGTTGCCTCCACACTGTCCCTGCTGCACACCCGTCGTGCTCAGACACCATCCCTCTCAAACTCCCCCCACTCGAGTTCAGCTGTGAAGCAGCAGCCAGGCATGGGAAAGGCCTCCATGACATCGCCGGCTGTTAAGAGTCAAACGTCAGCGTCCCTAAGAAGACCCTGTAGGACCCAGCCAGAAGGCACGACGGGGCCACCCTGCCAACCCCACCCGTCAGCAAACCTGGGCTCTCCTCTCGTCCTAACACCCCTGGGTCTCCCTGCTCTGCTTGAAGCAGCCTCGTCCCTGCTTGTCACGGAGTCAGTTTCTTTCTCATCCTGTAAGTCCCAGCTTAATCAGCAGCTTCGCAGAGAGGCCTCCCTCGTCACCCACCTAAAGCAGGTCTCCACGTTCTCCTATTGGTCTCCACGTTCTCCTATCGGTCTCCTCCTGAGAATTTAACACAACTTGCAATTACTCTGTTACCTGCTCAGTGCGTCTCCGAAACAGTCTGCAGTTCTGTTAGGTGAGCGCCATCATCACCCTGAGCCTAGCATGATGCCCTGCAGAGAGCAGGTGCTGAATGGAATGTATGCTGTGCAGTGAACCACAGAGACAGAGCATGCCGGCCCGCAGGGTGGCCAGCCGCAAGACCACCTGAGTGAAAACACGCTGCTCAACCAGTGCCCATCCACCTGCCGGTCTCAAGACAGAAGGCACAGGTGTGAGTCCAGGCTCTGATACCTGCTACCTGGGCAAGTCACTTTACTAAATCTTAGTTTGTCTATACAGGAGGGAGGGAAGAAAGGAAGGAAGGGGACGGTGAAAGGGAAAGGGAGGGGGAGGGGAGGGGGAAGGAGAGGGGAGGGGAGAGGAGGAGAGGGAGCAGTAGTGGCAGCAGCCATAGATGAGGTCAATCATTTCCCAACTTATTCCCAAGAACTCCAAGATTCCTTGAAGGTGACAAGACCCCCATTCCCCTGACCCTTCAACCAGAGCAGAGCAGAGCTCTCTCATCTGTTTAAGACAACTGGCTTCCACATAAGATTTTGTTTGGTAACAAAGCGCTTGCCGCTAGACTAAGCTCTGTGCTGCCTGGACCCACAAGTCTGAGACGCGCTGTGAGGTCTCGGCAAGGCCCCAGTCTCTGGGCTGCCACCCAGGACCACCCGCACACACACCCTCCGCCTTGGAGCAGCCCCTGCCACCATCACCAGGGCCCACCTCATTAAAGACGATCCTGGACGGCGGTCTCTTCGTCGGCTTCACTGTGGTTTTCCACGTCCTCCCAAAGAAGTGCCGGTAGGTGACATCAAAGAAAGACACTCGCAGATGGCATTCAACCTCTGACAGTACCTCCAGCACGCCCTAGGAGACAACGGGGAATTGACCCTCAAGAGTCTGAGCACCATGAGCCAGGAGGTCACTGGCAGGCCATGTGGGTGCATATGGGGCCACCTCGCTCAGATATCAGCACGCTGGTTTCCTTATTGGGAGGCTACCTCTCTCCCACAGCTACTGGTCTTGGTGGGGTTATAAACCAAAGCATTTGGCCCTCCCCTGGCCAACGAAAGACTGCAGTCCCTTGGAACAGACACAGGCTTCTGACTCAGCCAGAGCCCAGGACGCACAAGAGGACATGACCACAGGAGACACATGCGCCTGCCAGGATGAGGCCCAGGGCTCCCAGCAGCCAACAGGTGAGAGAGAACAAGTCCAGGGGACATCACCTGAGACCTCGCTCAAGCCACACCTGAAGCTTATGCTGGCTGTGGATTTGCTGTGAGTCAACAAATCGCCTCTCACGTAAATCATTTTGGATGGGTTTGTTAATCATTTCCAACCAAATGAGCCCTTCCTGATATAACCAGAAACTAAATCCTCAACTTCCCAGATTTTGGGGTGACATTGGCAAAGCAAAAAGCAGATCTTTGAGAATTGAGAAATCATGGCTACAAATACAGAACAAAGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCAGAGCGGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCCGGAGCTTTACCACTTACAGCAAGTATTGCTTTAGCCTTTTCTCTTCTGTGACAGGTTCTTACCTGAGACAAGAGTCCTCCACCTTTCTTTCACCTATTCACTTAGTAAACGTTACTTACACATCTATTCTGCGCATTGACTCTCTGCCAGGCACATTTCCAGGCACTAGGGAAACAACAAGGAACAGACAAAATCTCTGCCCTTACAGGGCTTACATGGTGAAGAACGGGGAGAGAGGTGGGTGGGGCGGGGCAGGGCAGGGCAGGGCAGGCTCTCTGAGATGATCCTTGAGCTGAGAACAAGGGGGGCATGAGAAGAACCACAGGGAGTTTGGGGAGAGGGAGCCAGGCAGGAGGAGCAGCAAACTCAAAGGTCCTGAGAGGAAGAGAGCACACGTGCTCCAGGAGCCAGCGAGAAGTGCAGGAACTATATTTAGCTATAGTACCTGTGTTTTGTTTTTGTTTTTAAGAAAAGGGTCTCGTCTGTCACCCAGGCTGGAGGTCTGGCCACTGCAGCCTCCACCTCCCAGGCTCAAGCAATCCTCCTGCCTCATCCTGTCAAGTAGCTGGGACCACAGGTGCACTCCACCACACCCGGCTAATTTTTGTACTTTTTGTAGAGAGTGGGTTTTGCCAGGCTGGTCTTGATCTCCTGTCCTCAAGTGACCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGGTTACAGGGGTAAGCCACCATGCCCGGCCTGTATTTTCTAATTTTCTGTATTACTGATGCTCTGGCATCTGGGGCCTCAGTGACGAGATAAGACTGTCCCCCAGAGCCGGTTAATTCCTAGGGTGGCAAATGGCAGGCCTATCAGAATGTGTCTGACATGAAAACCAACCCGTCCAGAGACCACATGCCCCACTACCTCTGTCTGGCTCACACACCCCAGGAGTCCCACCCTCTGCCATGGTCTCTCAGGGTCAGTGACCAGACACCTCGGGCCATCCCTGCACCTCAGAGACCACGACATGACTCTCCTTGGCCAACGCAAGCCCGTCCAGCTGCCCACCCTCCCTGGCCCAGTCCTCCCACAAAACCATAATCAAGTCTCTGCCCATGCCTCCCTTCCACCCTCCTGCCTCCTGACCAACCCTGCGCTTCCCCAGGTGGCCTGTGGGACATGGCCTACCCCTCGTCTTGGGAGCCCTGAGTAACAGACAGGGTCTCAGCTGAGTTGTCTCCTGATCCGCTGGCCTCACCACCCCTAAATGGAAACCAGTCCCAGGTACATTCTAAGCAGAAAGCCCACCGGACTGCAGCAGGCTGGGCCAGGGAGGAGAGAAGGAAT	TGACGGCATGCTTCTGAGCCGATGCCTGGCCACGGGAAGCGCCTCCCGGTGAAGGATGGCTAACTTCACCACCCGCCGCATGGCTGTCACAACACCAGGTTTCGGGGGGCTCACTGTGCACATCTGAGAAAGCTAAAGCTAAACAGCTCTATCCCCAGCAGTTGGTCTGGCATTGCCAGCACCGGGAACTCATGGCGAGCCTCCTGCCACAGCGCAGGCCCGAGGGGACCCCCTGCCCGCGCTGAAACAGCACTCTAAGGGTTCATCCGCAGTCACACTCATGAAACCTTTCCTGACACGGCTGGCCAGAGAGACCTCTGAGAGGTATTTGCATTAGCTGTTTGACAACCTTAATGTCAGACACATCCTTAGCTGTCCAGACATACACTCTAGCAAGGCTTTTTATTGAAGCTTCGTGACCTCTGGGGTCATTCTCTCCCTCTACTACCCATGGGAGGAAGGGCAAGAGTCAGGACCCATCCATGTCAAGACACACATAATCCAAGCGCTGGGTGATGGTGGGGTACGGAGAGCAACGAGCTCGTGGCCCTAGGTGGGGGTGCTGACTGGCCAGAGCAGGCCCCCATGGGAAAGGCACACCTGGGCAGTGGTTACCTAGAGTAACGTCTCAAAGGACGGCCACTGTCACCGCCACTGTTACTCATCATACAAACTGTCCCAATACCAGGCCTCTTGGGGCCTCCTTCTATATACCTAAGATCAAACCAAGACAGCTGAGACCCTCTCATCACCTCTGTTGCCTCCACACTGTCCCTGCTGCACACCCGTCGTGCTCAGACACCATCCCTCTCAAACTCCCCCCACTCGAGTTCAGCTGTGAAGCAGCAGCCAGGCATGGGAAAGGCCTCCATGACATCGCCGGCTGTTAAGAGTCAAACGTCAGCGTCCCTAAGAAGACCCTGTAGGACCCAGCCAGAAGGCACGACGGGGCCACCCTGCCAACCCCACCCGTCAGCAAACCTGGGCTCTCCTCTCGTCCTAACACCCCTGGGTCTCCCTGCTCTGCTTGAAGCAGCCTCGTCCCTGCTTGTCACGGAGTCAGTTTCTTTCTCATCCTGTAAGTCCCAGCTTAATCAGCAGCTTCGCAGAGAGGCCTCCCTCGTCACCCACCTAAAGCAGGTCTCCACGTTCTCCTATTGGTCTCCACGTTCTCCTATCGGTCTCCTCCTGAGAATTTAACACAACTTGCAATTACTCTGTTACCTGCTCAGTGCGTCTCCGAAACAGTCTGCAGTTCTGTTAGGTGAGCGCCATCATCACCCTGAGCCTAGCATGATGCCCTGCAGAGAGCAGGTGCTGAATGGAATGTATGCTGTGCAGTGAACCACAGAGACAGAGCATGCCGGCCCGCAGGGTGGCCAGCCGCAAGACCACCTGAGTGAAAACACGCTGCTCAACCAGTGCCCATCCACCTGCCGGTCTCAAGACAGAAGGCACAGGTGTGAGTCCAGGCTCTGATACCTGCTACCTGGGCAAGTCACTTTACTAAATCTTAGTTTGTCTATACAGGAGGGAGGGAAGAAAGGAAGGAAGGGGACGGTGAAAGGGAAAGGGAGGGGGAGGGGAGGGGGAAGGAGAGGGGAGGGGAGAGGAGGAGAGGGAGCAGTAGTGGCAGCAGCCATAGATGAGGTCAATCATTTCCCAACTTATTCCCAAGAACTCCAAGATTCCTTGAAGGTGACAAGACCCCCATTCCCCTGACCCTTCAACCAGAGCAGAGCAGAGCTCTCTCATCTGTTTAAGACAACTGGCTTCCACATAAGATTTTGTTTGGTAACAAAGCGCTTGCCGCTAGACTAAGCTCTGTGCTGCCTGGACCCACAAGTCTGAGACGCGCTGTGAGGTCTCGGCAAGGCCCCAGTCTCTGGGCTGCCACCCAGGACCACCCGCACACACACCCTCCGCCTTGGAGCAGCCCCTGCCACCATCACCAGGGCCCACCTCATTAAAGACGATCCTGGACGGCGGTCTCTTCGTCGGCTTCACTGTGGTTTTCCACGTCCTCCCAAAGAAGTGCCGGTAGGTGACAAGAAAGACACTCGCAGATGGCATTCAACCTCTGACAGTACCTCCAGCACGCCCTAGGAGACAACGGGGAATTGACCCTCAAGAGTCTGAGCACCATGAGCCAGGAGGTCACTGGCAGGCCATGTGGGTGCATATGGGGCCACCTCGCTCAGATATCAGCACGCTGGTTTCCTTATTGGGAGGCTACCTCTCTCCCACAGCTACTGGTCTTGGTGGGGTTATAAACCAAAGCATTTGGCCCTCCCCTGGCCAACGAAAGACTGCAGTCCCTTGGAACAGACACAGGCTTCTGACTCAGCCAGAGCCCAGGACGCACAAGAGGACATGACCACAGGAGACACATGCGCCTGCCAGGATGAGGCCCAGGGCTCCCAGCAGCCAACAGGTGAGAGAGAACAAGTCCAGGGGACATCACCTGAGACCTCGCTCAAGCCACACCTGAAGCTTATGCTGGCTGTGGATTTGCTGTGAGTCAACAAATCGCCTCTCACGTAAATCATTTTGGATGGGTTTGTTAATCATTTCCAACCAAATGAGCCCTTCCTGATATAACCAGAAACTAAATCCTCAACTTCCCAGATTTTGGGGTGACATTGGCAAAGCAAAAAGCAGATCTTTGAGAATTGAGAAATCATGGCTACAAATACAGAACAAAGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCAGAGCGGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCCGGAGCTTTACCACTTACAGCAAGTATTGCTTTAGCCTTTTCTCTTCTGTGACAGGTTCTTACCTGAGACAAGAGTCCTCCACCTTTCTTTCACCTATTCACTTAGTAAACGTTACTTACACATCTATTCTGCGCATTGACTCTCTGCCAGGCACATTTCCAGGCACTAGGGAAACAACAAGGAACAGACAAAATCTCTGCCCTTACAGGGCTTACATGGTGAAGAACGGGGAGAGAGGTGGGTGGGGCGGGGCAGGGCAGGGCAGGGCAGGCTCTCTGAGATGATCCTTGAGCTGAGAACAAGGGGGGCATGAGAAGAACCACAGGGAGTTTGGGGAGAGGGAGCCAGGCAGGAGGAGCAGCAAACTCAAAGGTCCTGAGAGGAAGAGAGCACACGTGCTCCAGGAGCCAGCGAGAAGTGCAGGAACTATATTTAGCTATAGTACCTGTGTTTTGTTTTTGTTTTTAAGAAAAGGGTCTCGTCTGTCACCCAGGCTGGAGGTCTGGCCACTGCAGCCTCCACCTCCCAGGCTCAAGCAATCCTCCTGCCTCATCCTGTCAAGTAGCTGGGACCACAGGTGCACTCCACCACACCCGGCTAATTTTTGTACTTTTTGTAGAGAGTGGGTTTTGCCAGGCTGGTCTTGATCTCCTGTCCTCAAGTGACCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGGTTACAGGGGTAAGCCACCATGCCCGGCCTGTATTTTCTAATTTTCTGTATTACTGATGCTCTGGCATCTGGGGCCTCAGTGACGAGATAAGACTGTCCCCCAGAGCCGGTTAATTCCTAGGGTGGCAAATGGCAGGCCTATCAGAATGTGTCTGACATGAAAACCAACCCGTCCAGAGACCACATGCCCCACTACCTCTGTCTGGCTCACACACCCCAGGAGTCCCACCCTCTGCCATGGTCTCTCAGGGTCAGTGACCAGACACCTCGGGCCATCCCTGCACCTCAGAGACCACGACATGACTCTCCTTGGCCAACGCAAGCCCGTCCAGCTGCCCACCCTCCCTGGCCCAGTCCTCCCACAAAACCATAATCAAGTCTCTGCCCATGCCTCCCTTCCACCCTCCTGCCTCCTGACCAACCCTGCGCTTCCCCAGGTGGCCTGTGGGACATGGCCTACCCCTCGTCTTGGGAGCCCTGAGTAACAGACAGGGTCTCAGCTGAGTTGTCTCCTGATCCGCTGGCCTCACCACCCCTAAATGGAAACCAGTCCCAGGTACATTCTAAGCAGAAAGCCCACCGGACTGCAGCAGGCTGGGCCAGGGAGGAGAGAAGGAATNNNN	pathogenic	1,323
Variant in gene NPHP4 (nephrocystin 4), located at chromosome 1 position 5978416: benign or pathogenic? What disease(s) does it cause if pathogenic?	benign	TAACTTCACCACCCGCCGCATGGCTGTCACAACACCAGGTTTCGGGGGGCTCACTGTGCACATCTGAGAAAGCTAAAGCTAAACAGCTCTATCCCCAGCAGTTGGTCTGGCATTGCCAGCACCGGGAACTCATGGCGAGCCTCCTGCCACAGCGCAGGCCCGAGGGGACCCCCTGCCCGCGCTGAAACAGCACTCTAAGGGTTCATCCGCAGTCACACTCATGAAACCTTTCCTGACACGGCTGGCCAGAGAGACCTCTGAGAGGTATTTGCATTAGCTGTTTGACAACCTTAATGTCAGACACATCCTTAGCTGTCCAGACATACACTCTAGCAAGGCTTTTTATTGAAGCTTCGTGACCTCTGGGGTCATTCTCTCCCTCTACTACCCATGGGAGGAAGGGCAAGAGTCAGGACCCATCCATGTCAAGACACACATAATCCAAGCGCTGGGTGATGGTGGGGTACGGAGAGCAACGAGCTCGTGGCCCTAGGTGGGGGTGCTGACTGGCCAGAGCAGGCCCCCATGGGAAAGGCACACCTGGGCAGTGGTTACCTAGAGTAACGTCTCAAAGGACGGCCACTGTCACCGCCACTGTTACTCATCATACAAACTGTCCCAATACCAGGCCTCTTGGGGCCTCCTTCTATATACCTAAGATCAAACCAAGACAGCTGAGACCCTCTCATCACCTCTGTTGCCTCCACACTGTCCCTGCTGCACACCCGTCGTGCTCAGACACCATCCCTCTCAAACTCCCCCCACTCGAGTTCAGCTGTGAAGCAGCAGCCAGGCATGGGAAAGGCCTCCATGACATCGCCGGCTGTTAAGAGTCAAACGTCAGCGTCCCTAAGAAGACCCTGTAGGACCCAGCCAGAAGGCACGACGGGGCCACCCTGCCAACCCCACCCGTCAGCAAACCTGGGCTCTCCTCTCGTCCTAACACCCCTGGGTCTCCCTGCTCTGCTTGAAGCAGCCTCGTCCCTGCTTGTCACGGAGTCAGTTTCTTTCTCATCCTGTAAGTCCCAGCTTAATCAGCAGCTTCGCAGAGAGGCCTCCCTCGTCACCCACCTAAAGCAGGTCTCCACGTTCTCCTATTGGTCTCCACGTTCTCCTATCGGTCTCCTCCTGAGAATTTAACACAACTTGCAATTACTCTGTTACCTGCTCAGTGCGTCTCCGAAACAGTCTGCAGTTCTGTTAGGTGAGCGCCATCATCACCCTGAGCCTAGCATGATGCCCTGCAGAGAGCAGGTGCTGAATGGAATGTATGCTGTGCAGTGAACCACAGAGACAGAGCATGCCGGCCCGCAGGGTGGCCAGCCGCAAGACCACCTGAGTGAAAACACGCTGCTCAACCAGTGCCCATCCACCTGCCGGTCTCAAGACAGAAGGCACAGGTGTGAGTCCAGGCTCTGATACCTGCTACCTGGGCAAGTCACTTTACTAAATCTTAGTTTGTCTATACAGGAGGGAGGGAAGAAAGGAAGGAAGGGGACGGTGAAAGGGAAAGGGAGGGGGAGGGGAGGGGGAAGGAGAGGGGAGGGGAGAGGAGGAGAGGGAGCAGTAGTGGCAGCAGCCATAGATGAGGTCAATCATTTCCCAACTTATTCCCAAGAACTCCAAGATTCCTTGAAGGTGACAAGACCCCCATTCCCCTGACCCTTCAACCAGAGCAGAGCAGAGCTCTCTCATCTGTTTAAGACAACTGGCTTCCACATAAGATTTTGTTTGGTAACAAAGCGCTTGCCGCTAGACTAAGCTCTGTGCTGCCTGGACCCACAAGTCTGAGACGCGCTGTGAGGTCTCGGCAAGGCCCCAGTCTCTGGGCTGCCACCCAGGACCACCCGCACACACACCCTCCGCCTTGGAGCAGCCCCTGCCACCATCACCAGGGCCCACCTCATTAAAGACGATCCTGGACGGCGGTCTCTTCGTCGGCTTCACTGTGGTTTTCCACGTCCTCCCAAAGAAGTGCCGGTAGGTGACATCAAAGAAAGACACTCGCAGATGGCATTCAACCTCTGACAGTACCTCCAGCACGCCCTAGGAGACAACGGGGAATTGACCCTCAAGAGTCTGAGCACCATGAGCCAGGAGGTCACTGGCAGGCCATGTGGGTGCATATGGGGCCACCTCGCTCAGATATCAGCACGCTGGTTTCCTTATTGGGAGGCTACCTCTCTCCCACAGCTACTGGTCTTGGTGGGGTTATAAACCAAAGCATTTGGCCCTCCCCTGGCCAACGAAAGACTGCAGTCCCTTGGAACAGACACAGGCTTCTGACTCAGCCAGAGCCCAGGACGCACAAGAGGACATGACCACAGGAGACACATGCGCCTGCCAGGATGAGGCCCAGGGCTCCCAGCAGCCAACAGGTGAGAGAGAACAAGTCCAGGGGACATCACCTGAGACCTCGCTCAAGCCACACCTGAAGCTTATGCTGGCTGTGGATTTGCTGTGAGTCAACAAATCGCCTCTCACGTAAATCATTTTGGATGGGTTTGTTAATCATTTCCAACCAAATGAGCCCTTCCTGATATAACCAGAAACTAAATCCTCAACTTCCCAGATTTTGGGGTGACATTGGCAAAGCAAAAAGCAGATCTTTGAGAATTGAGAAATCATGGCTACAAATACAGAACAAAGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCAGAGCGGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCCGGAGCTTTACCACTTACAGCAAGTATTGCTTTAGCCTTTTCTCTTCTGTGACAGGTTCTTACCTGAGACAAGAGTCCTCCACCTTTCTTTCACCTATTCACTTAGTAAACGTTACTTACACATCTATTCTGCGCATTGACTCTCTGCCAGGCACATTTCCAGGCACTAGGGAAACAACAAGGAACAGACAAAATCTCTGCCCTTACAGGGCTTACATGGTGAAGAACGGGGAGAGAGGTGGGTGGGGCGGGGCAGGGCAGGGCAGGGCAGGCTCTCTGAGATGATCCTTGAGCTGAGAACAAGGGGGGCATGAGAAGAACCACAGGGAGTTTGGGGAGAGGGAGCCAGGCAGGAGGAGCAGCAAACTCAAAGGTCCTGAGAGGAAGAGAGCACACGTGCTCCAGGAGCCAGCGAGAAGTGCAGGAACTATATTTAGCTATAGTACCTGTGTTTTGTTTTTGTTTTTAAGAAAAGGGTCTCGTCTGTCACCCAGGCTGGAGGTCTGGCCACTGCAGCCTCCACCTCCCAGGCTCAAGCAATCCTCCTGCCTCATCCTGTCAAGTAGCTGGGACCACAGGTGCACTCCACCACACCCGGCTAATTTTTGTACTTTTTGTAGAGAGTGGGTTTTGCCAGGCTGGTCTTGATCTCCTGTCCTCAAGTGACCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGGTTACAGGGGTAAGCCACCATGCCCGGCCTGTATTTTCTAATTTTCTGTATTACTGATGCTCTGGCATCTGGGGCCTCAGTGACGAGATAAGACTGTCCCCCAGAGCCGGTTAATTCCTAGGGTGGCAAATGGCAGGCCTATCAGAATGTGTCTGACATGAAAACCAACCCGTCCAGAGACCACATGCCCCACTACCTCTGTCTGGCTCACACACCCCAGGAGTCCCACCCTCTGCCATGGTCTCTCAGGGTCAGTGACCAGACACCTCGGGCCATCCCTGCACCTCAGAGACCACGACATGACTCTCCTTGGCCAACGCAAGCCCGTCCAGCTGCCCACCCTCCCTGGCCCAGTCCTCCCACAAAACCATAATCAAGTCTCTGCCCATGCCTCCCTTCCACCCTCCTGCCTCCTGACCAACCCTGCGCTTCCCCAGGTGGCCTGTGGGACATGGCCTACCCCTCGTCTTGGGAGCCCTGAGTAACAGACAGGGTCTCAGCTGAGTTGTCTCCTGATCCGCTGGCCTCACCACCCCTAAATGGAAACCAGTCCCAGGTACATTCTAAGCAGAAAGCCCACCGGACTGCAGCAGGCTGGGCCAGGGAGGAGAGAAGGAATGAGCGCCAGGCGCAAGAGCGTTCAGGCAGGCCTCACGGCGCGAGGAGAAGCTGGGTTCTC	TAACTTCACCACCCGCCGCATGGCTGTCACAACACCAGGTTTCGGGGGGCTCACTGTGCACATCTGAGAAAGCTAAAGCTAAACAGCTCTATCCCCAGCAGTTGGTCTGGCATTGCCAGCACCGGGAACTCATGGCGAGCCTCCTGCCACAGCGCAGGCCCGAGGGGACCCCCTGCCCGCGCTGAAACAGCACTCTAAGGGTTCATCCGCAGTCACACTCATGAAACCTTTCCTGACACGGCTGGCCAGAGAGACCTCTGAGAGGTATTTGCATTAGCTGTTTGACAACCTTAATGTCAGACACATCCTTAGCTGTCCAGACATACACTCTAGCAAGGCTTTTTATTGAAGCTTCGTGACCTCTGGGGTCATTCTCTCCCTCTACTACCCATGGGAGGAAGGGCAAGAGTCAGGACCCATCCATGTCAAGACACACATAATCCAAGCGCTGGGTGATGGTGGGGTACGGAGAGCAACGAGCTCGTGGCCCTAGGTGGGGGTGCTGACTGGCCAGAGCAGGCCCCCATGGGAAAGGCACACCTGGGCAGTGGTTACCTAGAGTAACGTCTCAAAGGACGGCCACTGTCACCGCCACTGTTACTCATCATACAAACTGTCCCAATACCAGGCCTCTTGGGGCCTCCTTCTATATACCTAAGATCAAACCAAGACAGCTGAGACCCTCTCATCACCTCTGTTGCCTCCACACTGTCCCTGCTGCACACCCGTCGTGCTCAGACACCATCCCTCTCAAACTCCCCCCACTCGAGTTCAGCTGTGAAGCAGCAGCCAGGCATGGGAAAGGCCTCCATGACATCGCCGGCTGTTAAGAGTCAAACGTCAGCGTCCCTAAGAAGACCCTGTAGGACCCAGCCAGAAGGCACGACGGGGCCACCCTGCCAACCCCACCCGTCAGCAAACCTGGGCTCTCCTCTCGTCCTAACACCCCTGGGTCTCCCTGCTCTGCTTGAAGCAGCCTCGTCCCTGCTTGTCACGGAGTCAGTTTCTTTCTCATCCTGTAAGTCCCAGCTTAATCAGCAGCTTCGCAGAGAGGCCTCCCTCGTCACCCACCTAAAGCAGGTCTCCACGTTCTCCTATTGGTCTCCACGTTCTCCTATCGGTCTCCTCCTGAGAATTTAACACAACTTGCAATTACTCTGTTACCTGCTCAGTGCGTCTCCGAAACAGTCTGCAGTTCTGTTAGGTGAGCGCCATCATCACCCTGAGCCTAGCATGATGCCCTGCAGAGAGCAGGTGCTGAATGGAATGTATGCTGTGCAGTGAACCACAGAGACAGAGCATGCCGGCCCGCAGGGTGGCCAGCCGCAAGACCACCTGAGTGAAAACACGCTGCTCAACCAGTGCCCATCCACCTGCCGGTCTCAAGACAGAAGGCACAGGTGTGAGTCCAGGCTCTGATACCTGCTACCTGGGCAAGTCACTTTACTAAATCTTAGTTTGTCTATACAGGAGGGAGGGAAGAAAGGAAGGAAGGGGACGGTGAAAGGGAAAGGGAGGGGGAGGGGAGGGGGAAGGAGAGGGGAGGGGAGAGGAGGAGAGGGAGCAGTAGTGGCAGCAGCCATAGATGAGGTCAATCATTTCCCAACTTATTCCCAAGAACTCCAAGATTCCTTGAAGGTGACAAGACCCCCATTCCCCTGACCCTTCAACCAGAGCAGAGCAGAGCTCTCTCATCTGTTTAAGACAACTGGCTTCCACATAAGATTTTGTTTGGTAACAAAGCGCTTGCCGCTAGACTAAGCTCTGTGCTGCCTGGACCCACAAGTCTGAGACGCGCTGTGAGGTCTCGGCAAGGCCCCAGTCTCTGGGCTGCCACCCAGGACCACCCGCACACACACCCTCCGCCTTGGAGCAGCCCCTGCCACCATCACCAGGGCCCACCTCATTAAAGACGATCCTGGACGGCGGTCTCTTCGTCGGCTTCACTGTGGTTTTCCACGTCCTCCCAAAGAAGTGCCGGTAGGTGACATCAAAGAAAGACACTCGCAGATGGCATTCAACCTCTGACAGTACCTCCAGCACGCCCTAGAGACAACGGGGAATTGACCCTCAAGAGTCTGAGCACCATGAGCCAGGAGGTCACTGGCAGGCCATGTGGGTGCATATGGGGCCACCTCGCTCAGATATCAGCACGCTGGTTTCCTTATTGGGAGGCTACCTCTCTCCCACAGCTACTGGTCTTGGTGGGGTTATAAACCAAAGCATTTGGCCCTCCCCTGGCCAACGAAAGACTGCAGTCCCTTGGAACAGACACAGGCTTCTGACTCAGCCAGAGCCCAGGACGCACAAGAGGACATGACCACAGGAGACACATGCGCCTGCCAGGATGAGGCCCAGGGCTCCCAGCAGCCAACAGGTGAGAGAGAACAAGTCCAGGGGACATCACCTGAGACCTCGCTCAAGCCACACCTGAAGCTTATGCTGGCTGTGGATTTGCTGTGAGTCAACAAATCGCCTCTCACGTAAATCATTTTGGATGGGTTTGTTAATCATTTCCAACCAAATGAGCCCTTCCTGATATAACCAGAAACTAAATCCTCAACTTCCCAGATTTTGGGGTGACATTGGCAAAGCAAAAAGCAGATCTTTGAGAATTGAGAAATCATGGCTACAAATACAGAACAAAGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCAGAGCGGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCCGGAGCTTTACCACTTACAGCAAGTATTGCTTTAGCCTTTTCTCTTCTGTGACAGGTTCTTACCTGAGACAAGAGTCCTCCACCTTTCTTTCACCTATTCACTTAGTAAACGTTACTTACACATCTATTCTGCGCATTGACTCTCTGCCAGGCACATTTCCAGGCACTAGGGAAACAACAAGGAACAGACAAAATCTCTGCCCTTACAGGGCTTACATGGTGAAGAACGGGGAGAGAGGTGGGTGGGGCGGGGCAGGGCAGGGCAGGGCAGGCTCTCTGAGATGATCCTTGAGCTGAGAACAAGGGGGGCATGAGAAGAACCACAGGGAGTTTGGGGAGAGGGAGCCAGGCAGGAGGAGCAGCAAACTCAAAGGTCCTGAGAGGAAGAGAGCACACGTGCTCCAGGAGCCAGCGAGAAGTGCAGGAACTATATTTAGCTATAGTACCTGTGTTTTGTTTTTGTTTTTAAGAAAAGGGTCTCGTCTGTCACCCAGGCTGGAGGTCTGGCCACTGCAGCCTCCACCTCCCAGGCTCAAGCAATCCTCCTGCCTCATCCTGTCAAGTAGCTGGGACCACAGGTGCACTCCACCACACCCGGCTAATTTTTGTACTTTTTGTAGAGAGTGGGTTTTGCCAGGCTGGTCTTGATCTCCTGTCCTCAAGTGACCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGGTTACAGGGGTAAGCCACCATGCCCGGCCTGTATTTTCTAATTTTCTGTATTACTGATGCTCTGGCATCTGGGGCCTCAGTGACGAGATAAGACTGTCCCCCAGAGCCGGTTAATTCCTAGGGTGGCAAATGGCAGGCCTATCAGAATGTGTCTGACATGAAAACCAACCCGTCCAGAGACCACATGCCCCACTACCTCTGTCTGGCTCACACACCCCAGGAGTCCCACCCTCTGCCATGGTCTCTCAGGGTCAGTGACCAGACACCTCGGGCCATCCCTGCACCTCAGAGACCACGACATGACTCTCCTTGGCCAACGCAAGCCCGTCCAGCTGCCCACCCTCCCTGGCCCAGTCCTCCCACAAAACCATAATCAAGTCTCTGCCCATGCCTCCCTTCCACCCTCCTGCCTCCTGACCAACCCTGCGCTTCCCCAGGTGGCCTGTGGGACATGGCCTACCCCTCGTCTTGGGAGCCCTGAGTAACAGACAGGGTCTCAGCTGAGTTGTCTCCTGATCCGCTGGCCTCACCACCCCTAAATGGAAACCAGTCCCAGGTACATTCTAAGCAGAAAGCCCACCGGACTGCAGCAGGCTGGGCCAGGGAGGAGAGAAGGAATGAGCGCCAGGCGCAAGAGCGTTCAGGCAGGCCTCACGGCGCGAGGAGAAGCTGGGTTCTCN	benign	1,324
The chromosome 1, position 6445949 genetic variant in gene ESPN (espin): benign or pathogenic? If pathogenic, indicate disease(s).	benign	CCTGTGGTCAGACGCACAGACCGGGCAGGGCGAGGGGATGGCAGGCCTGGCAGCCTGAGTTCTGGCTGCCCATCACTGCAGCTGGCCATCCAGGCCCCACCCTTACCCCGAGGGCCCCATCAGGAGACAGGCCGGGCTGGTGTTGGGAGTCTGCCCCAGGCCCCAGGTCCAGCAAGGAGAGCCGGCTTGCCAGCCAGGTAACTAGGGATGGGCCTGTGCTGTGCGCCTCCCCATGGAGCCTCTGCCGATCCGTGAGGGAGAAGGCCGATCTCCTGGCATTTCTCCCCTTGGGGTGCAGCTCAAGGGCCCCCTCCTTGTCGATCTCTCCACCCTCCTAATCAGGGAGGAGCCAGGGGAGGGAGTTTCCCAGGAACCTGGGTCCTGCTGCCTGGCGGGGCTGGGCTTGAATCTTAACCTGGAGGAACCTGAGAGACCGTCTAGTGATGGGGAAGAGACCCCAGAGAGCGGTGTGGCTTGGCCAAGATCCCACAGCGAAGGCATGACTGAGTAGGACCCTGGCCTGGAGAGCAACGCATCTTGGGGTATGGTTGTCTTCATGGCCTCCCTGCCTCCCCTTCAGAGCGTGGAGCACCGCGTGCTTTCCCGGGATCCATCCGCAGAGCTGGAGGCTAAGCAGCCGGATTCAGGCATGTCCTCACCCAATACCACGGTGTCGGTCCAGCCGCTGAACTTTGACCTCAGCTCGCCTACCAGCACCCTCTCCAACTACGACTCCTGCTCCTCCAGCCACTCCAGCATCAAGGGCCAGCACCCTCCATGTGGTGAGTGTGCCCAGGAGGAAGACGGGGAGGGAGAGCAGACTGAAGCCAGACTGCTGGGCTGTGAGGATTGGCCTTGGGCCGCCCTGCCACAGCCAATATCGGACACTACCCTCATCACTTGCTCTTAAACATGGGGAGGCGACACCCCTTCTGGTGAGAGACAGATGTCACTCATACTTGTGTGTGCTTATCACAAACATACATGTACATCCACATGTACTCTCCCCACCCACAAAGTCCACGTGTGTCGCCCACCATTCATTATTCTTAGCTACTCACATACAAAAGCACACACTTGTACATGTGTACATACAGCATACAGATATGAACACACAGAGCCATGCGAATATCTGCACACACCCACCCTACACACAAGCAAGCACACAGTGCTCTATTTCCATACTACAGATATGCACGCACACACACACACATACACACCATGTCCACAGAGCAATGCACACACATTCATCAGTACAAAGAAGCATGTGCACAAATGCGTACCCCCTCAAACATACACAAATGCACGATCGCCTCGGCAGACTGCAGGCTTGTGTGTACACACACCCTGACCGTGCCCTGAGCATGGGCGTCCGTCCACTTGCAATGCCTGCTTCACGCCGCCAGATGGTGGCCTCCAGACCTGGCAGGGGTGCCCTGCAAAGATTGGATGTGGCCATCCGTACTCCCAAGGAGTAGACCCTCCCCTTCCAGGTGACCCTGCCCTCTAGACACACCAAAGCCTCCAGTGCTTCCCCTCCAAACCGGAGTGCCTGGTCTTCCCCCAGTAAGTGCTGGGCTGGGGCAGGGTAGGGCCAGGGAGGGGAAGCCCAGCACCGCCAGGGGCCACAGCAGGTGTACCAAGTGGTGCCCGGAGCCCACCTTGCCCCTCGGCAAGTTGTTTCCAGGTGGTGGAGAGTCTCAGTCTTGGGGGACAGCCTGTCTGCATGCTCCCAAATCTGGCCCTTCCTTCTGCCTCCCCAGGGCTTTCCAGCGCTAGAGCTGCAGACATACAGAGCTACATGGACATGCTGAACCCGGAGCTGGGCCTGCCTCGGGGCACGATTGGGAAGCCCACACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCCCACCCCCACCTGGCTACCCAGCTCCCAAGCCTCCTGTAGGACCACAGGCAGCTGACATCTACATGCAGACCAAGAACAAACTCCGCCACGTGGAGACAGAGGCCCTCAAGAAGGAGGTAGTGAGCCCTCACCCCCTGCCTGCCTCCCAGCAGGGGGACTGGGCTGATGGGGGCCAGTGAGGCCAAAGGCCTGGCCTCACTAGTGGGCATAGGGTGGGGATCCCTGGGTCCATGGCATGTTCAAGAGTCAAAGCTCCTGGCGAGTCCCACAAGGGGTCAGGGCTGGACACTGGACTGGGAGGAGAGTAAGAGCAGGTCATTGCCCTCCATGGGAGCTGGGGGGTGAAGGACGCAGGTCCAGACAGCTGTGCCTCACCAGGAACTGGGCCTGTGCCACCTCTTGCACAGAGTGGCCGGGTTGTCATGGAGTTGACAGAGAATGCATGGAGACTGCCCCTCCCCAAGCATGCCCCCCCACCCCCACAGCCCCAGGCTCAGTCGGAGAGTGTCACCCAAGGGAGGTGGCTGCCAGGTGGAAGGTGCCAGTGGCATGGCTGTGGAGGTGAGGGCTGGAAGGAGGGTGGGGGGAAGGTGAGCAGGCACTAGCAGGGCTGGGTGGAAGTGAAGCTGTGGCTGGTTCCAGTTTAGGGCTTGAGCTCCTGGGGGAAAGGGCCAGGCCTGAGCTGGGAGCCCTGGAAGGAAGCGAGCCTGTGTGGAGAGGATGAGGCCAGGGTGGGCAGGTGGAGTGTGAGGTGCCTAGGGATGTCTGGGGCCTGCAGGCCCCTGGCTGAGGCTCTGGAGCAGGGGTTGGGGCAGAGGTCTGGTCTGAGCAATTCCGGGTATCCCGGGCAGGGTGCCCTGGGGAACACTGGCGTTCTGGCCATAGGAACAGAGCAAGGATGGTCTAAGAGGTGAGGGGACAGCCTGAGGTCACAGGTGGCCAGATGTGGTGTGGCAGCCCCCTGGGGTCCTGCTGGAGCCTGGGACCTTGCAGTTCTCAAGCCCAAGGCAAAGCCACCCCAGGGCCAATTCATAAAAGGTGACTCGGGTCACAAGGCCACTGGGCAAGGGAGGCATGGGAGGGACACCGAACCTGCAGGCCAGCTCCAGTAGCTGCCCTCTTCATGCCACCTTAGACCAAGCTCCCACAGTGGCTTCCCCTTTCATCTCTGGGAGGCAGAGGGGGCCCTGGAATCGCTGAGTTCCCAACGCAGACTGTTGGCCCCGCCCAAATCCACAGGACAGGTGGCCCAGCCAGTGCCCCGTCTCCACCGTTGAGCCCAAGTGCCAGGTCTGCGTGGTCCCCTCCTGGCTGTGTGAGCCCCCTCCCGGCTGTGTGCGTCCCTCCGGGCTGTGTGCGCCCCTCCCGGCTGTGTGCGCCCCTCCCCACTGTGTGCGCCCCTCCCGGCTATGTGCGTCCATCTCGGCCGTGTGCGTGCTGGGCCGCAGGCGCCAGGGCCGGGGCCCGGACGCTCCACAAAGGGCTCTTTGTGTCGCCGCGGCGCCCCCCGCGCGGGTGCCTGACCGGGGGCGGGAGCAGGGTCGTGGCGTCCGAACCTCCGGGCTGCAGGGGGCGCGGAGCGGGCGGGCTGGCCCAGAAAACAAATCCTGCGGTGTCGCATTTCCTGCAACGTGAGCCAGGTCGGGCGGGGTGAAGGGTCTGAGGCCACCGCAGGGACGCATGGGCTGGAGAGTGGGGCAGAGGACAGCCCCCACCCGGTCACTCAGTCTTTGGCCCGGCCGCCTCACTCTCCCTCACTGAGCTGGGCCTAGTTGGGGGCAGCTGCGATGGGGTGGGAAGCCACGCTGTCACCCGACCCCGCCTTACGGCCCCTGAAATCCGAGGCTTGAGCGCGGGTGTCGGTGTCGCTTTCGTGGATGGCGATGGTTTCCAGATGCAGGAGGGGAAGGGTGGGGACGCGACCCGGAGCCGGGGGCCAAATATGAGAGGCCTCCTCTGCCCACAGTCAGCCCTCTCCCCTCTCGGGCGGGGATGAAGGTGGGGGCTCAGCTCCCAGCTTAGGGAGAGGCGCAGGGGGCGGGGTCACATCTGGCCGGGGACGGGTGCAGAGCCGCGGCCAGGTGTGGCAAAGTAGTTGGCGCCCCCTGTGGCATCCGCGACGGCTGGGGGGGTTCAGCCTGGGATTGGCGGGCCCCGGGTGATGTCAGGCCGTCGGA	CCTGTGGTCAGACGCACAGACCGGGCAGGGCGAGGGGATGGCAGGCCTGGCAGCCTGAGTTCTGGCTGCCCATCACTGCAGCTGGCCATCCAGGCCCCACCCTTACCCCGAGGGCCCCATCAGGAGACAGGCCGGGCTGGTGTTGGGAGTCTGCCCCAGGCCCCAGGTCCAGCAAGGAGAGCCGGCTTGCCAGCCAGGTAACTAGGGATGGGCCTGTGCTGTGCGCCTCCCCATGGAGCCTCTGCCGATCCGTGAGGGAGAAGGCCGATCTCCTGGCATTTCTCCCCTTGGGGTGCAGCTCAAGGGCCCCCTCCTTGTCGATCTCTCCACCCTCCTAATCAGGGAGGAGCCAGGGGAGGGAGTTTCCCAGGAACCTGGGTCCTGCTGCCTGGCGGGGCTGGGCTTGAATCTTAACCTGGAGGAACCTGAGAGACCGTCTAGTGATGGGGAAGAGACCCCAGAGAGCGGTGTGGCTTGGCCAAGATCCCACAGCGAAGGCATGACTGAGTAGGACCCTGGCCTGGAGAGCAACGCATCTTGGGGTATGGTTGTCTTCATGGCCTCCCTGCCTCCCCTTCAGAGCGTGGAGCACCGCGTGCTTTCCCGGGATCCATCCGCAGAGCTGGAGGCTAAGCAGCCGGATTCAGGCATGTCCTCACCCAATACCACGGTGTCGGTCCAGCCGCTGAACTTTGACCTCAGCTCGCCTACCAGCACCCTCTCCAACTACGACTCCTGCTCCTCCAGCCACTCCAGCATCAAGGGCCAGCACCCTCCATGTGGTGAGTGTGCCCAGGAGGAAGACGGGGAGGGAGAGCAGACTGAAGCCAGACTGCTGGGCTGTGAGGATTGGCCTTGGGCCGCCCTGCCACAGCCAATATCGGACACTACCCTCATCACTTGCTCTTAAACATGGGGAGGCGACACCCCTTCTGGTGAGAGACAGATGTCACTCATACTTGTGTGTGCTTATCACAAACATACATGTACATCCACATGTACTCTCCCCACCCACAAAGTCCACGTGTGTCGCCCACCATTCATTATTCTTAGCTACTCACATACAAAAGCACACACTTGTACATGTGTACATACAGCATACAGATATGAACACACAGAGCCATGCGAATATCTGCACACACCCACCCTACACACAAGCAAGCACACAGTGCTCTATTTCCATACTACAGATATGCACGCACACACACACACATACACACCATGTCCACAGAGCAATGCACACACATTCATCAGTACAAAGAAGCATGTGCACAAATGCGTACCCCCTCAAACATACACAAATGCACGATCGCCTCGGCAGACTGCAGGCTTGTGTGTACACACACCCTGACCGTGCCCTGAGCATGGGCGTCCGTCCACTTGCAATGCCTGCTTCACGCCGCCAGATGGTGGCCTCCAGACCTGGCAGGGGTGCCCTGCAAAGATTGGATGTGGCCATCCGTACTCCCAAGGAGTAGACCCTCCCCTTCCAGGTGACCCTGCCCTCTAGACACACCAAAGCCTCCAGTGCTTCCCCTCCAAACCGGAGTGCCTGGTCTTCCCCCAGTAAGTGCTGGGCTGGGGCAGGGTAGGGCCAGGGAGGGGAAGCCCAGCACCGCCAGGGGCCACAGCAGGTGTACCAAGTGGTGCCCGGAGCCCACCTTGCCCCTCGGCAAGTTGTTTCCAGGTGGTGGAGAGTCTCAGTCTTGGGGGACAGCCTGTCTGCATGCTCCCAAATCTGGCCCTTCCTTCTGCCTCCCCAGGGCTTTCCAGCGCTAGAGCTGCAGACATACAGAGCTACATGGACATGCTGAACCCGGAGCTGGGCCTGCCTCGGGGCACGATTGGGAAGCCCACACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCCCACCCCCACCTGGCTACCCAGCTCCCAAGCCTCCTGTAGGACCACAGGCAGCTGACATCTACATGCAGACCAAGAACAAACTCCGCCACGTGGAGACAGAGGCCCTCAAGAAGGAGGTAGTGAGCCCTCACCCCTGCCTGCCTCCCAGCAGGGGGACTGGGCTGATGGGGGCCAGTGAGGCCAAAGGCCTGGCCTCACTAGTGGGCATAGGGTGGGGATCCCTGGGTCCATGGCATGTTCAAGAGTCAAAGCTCCTGGCGAGTCCCACAAGGGGTCAGGGCTGGACACTGGACTGGGAGGAGAGTAAGAGCAGGTCATTGCCCTCCATGGGAGCTGGGGGGTGAAGGACGCAGGTCCAGACAGCTGTGCCTCACCAGGAACTGGGCCTGTGCCACCTCTTGCACAGAGTGGCCGGGTTGTCATGGAGTTGACAGAGAATGCATGGAGACTGCCCCTCCCCAAGCATGCCCCCCCACCCCCACAGCCCCAGGCTCAGTCGGAGAGTGTCACCCAAGGGAGGTGGCTGCCAGGTGGAAGGTGCCAGTGGCATGGCTGTGGAGGTGAGGGCTGGAAGGAGGGTGGGGGGAAGGTGAGCAGGCACTAGCAGGGCTGGGTGGAAGTGAAGCTGTGGCTGGTTCCAGTTTAGGGCTTGAGCTCCTGGGGGAAAGGGCCAGGCCTGAGCTGGGAGCCCTGGAAGGAAGCGAGCCTGTGTGGAGAGGATGAGGCCAGGGTGGGCAGGTGGAGTGTGAGGTGCCTAGGGATGTCTGGGGCCTGCAGGCCCCTGGCTGAGGCTCTGGAGCAGGGGTTGGGGCAGAGGTCTGGTCTGAGCAATTCCGGGTATCCCGGGCAGGGTGCCCTGGGGAACACTGGCGTTCTGGCCATAGGAACAGAGCAAGGATGGTCTAAGAGGTGAGGGGACAGCCTGAGGTCACAGGTGGCCAGATGTGGTGTGGCAGCCCCCTGGGGTCCTGCTGGAGCCTGGGACCTTGCAGTTCTCAAGCCCAAGGCAAAGCCACCCCAGGGCCAATTCATAAAAGGTGACTCGGGTCACAAGGCCACTGGGCAAGGGAGGCATGGGAGGGACACCGAACCTGCAGGCCAGCTCCAGTAGCTGCCCTCTTCATGCCACCTTAGACCAAGCTCCCACAGTGGCTTCCCCTTTCATCTCTGGGAGGCAGAGGGGGCCCTGGAATCGCTGAGTTCCCAACGCAGACTGTTGGCCCCGCCCAAATCCACAGGACAGGTGGCCCAGCCAGTGCCCCGTCTCCACCGTTGAGCCCAAGTGCCAGGTCTGCGTGGTCCCCTCCTGGCTGTGTGAGCCCCCTCCCGGCTGTGTGCGTCCCTCCGGGCTGTGTGCGCCCCTCCCGGCTGTGTGCGCCCCTCCCCACTGTGTGCGCCCCTCCCGGCTATGTGCGTCCATCTCGGCCGTGTGCGTGCTGGGCCGCAGGCGCCAGGGCCGGGGCCCGGACGCTCCACAAAGGGCTCTTTGTGTCGCCGCGGCGCCCCCCGCGCGGGTGCCTGACCGGGGGCGGGAGCAGGGTCGTGGCGTCCGAACCTCCGGGCTGCAGGGGGCGCGGAGCGGGCGGGCTGGCCCAGAAAACAAATCCTGCGGTGTCGCATTTCCTGCAACGTGAGCCAGGTCGGGCGGGGTGAAGGGTCTGAGGCCACCGCAGGGACGCATGGGCTGGAGAGTGGGGCAGAGGACAGCCCCCACCCGGTCACTCAGTCTTTGGCCCGGCCGCCTCACTCTCCCTCACTGAGCTGGGCCTAGTTGGGGGCAGCTGCGATGGGGTGGGAAGCCACGCTGTCACCCGACCCCGCCTTACGGCCCCTGAAATCCGAGGCTTGAGCGCGGGTGTCGGTGTCGCTTTCGTGGATGGCGATGGTTTCCAGATGCAGGAGGGGAAGGGTGGGGACGCGACCCGGAGCCGGGGGCCAAATATGAGAGGCCTCCTCTGCCCACAGTCAGCCCTCTCCCCTCTCGGGCGGGGATGAAGGTGGGGGCTCAGCTCCCAGCTTAGGGAGAGGCGCAGGGGGCGGGGTCACATCTGGCCGGGGACGGGTGCAGAGCCGCGGCCAGGTGTGGCAAAGTAGTTGGCGCCCCCTGTGGCATCCGCGACGGCTGGGGGGGTTCAGCCTGGGATTGGCGGGCCCCGGGTGATGTCAGGCCGTCGGAN	benign	1,409
Regarding the variant found on chromosome 1 at position 6448961 in gene ESPN (espin): is it benign or pathogenic? If pathogenic, identify the disease(s).	benign	TGCAGGCCAGCTCCAGTAGCTGCCCTCTTCATGCCACCTTAGACCAAGCTCCCACAGTGGCTTCCCCTTTCATCTCTGGGAGGCAGAGGGGGCCCTGGAATCGCTGAGTTCCCAACGCAGACTGTTGGCCCCGCCCAAATCCACAGGACAGGTGGCCCAGCCAGTGCCCCGTCTCCACCGTTGAGCCCAAGTGCCAGGTCTGCGTGGTCCCCTCCTGGCTGTGTGAGCCCCCTCCCGGCTGTGTGCGTCCCTCCGGGCTGTGTGCGCCCCTCCCGGCTGTGTGCGCCCCTCCCCACTGTGTGCGCCCCTCCCGGCTATGTGCGTCCATCTCGGCCGTGTGCGTGCTGGGCCGCAGGCGCCAGGGCCGGGGCCCGGACGCTCCACAAAGGGCTCTTTGTGTCGCCGCGGCGCCCCCCGCGCGGGTGCCTGACCGGGGGCGGGAGCAGGGTCGTGGCGTCCGAACCTCCGGGCTGCAGGGGGCGCGGAGCGGGCGGGCTGGCCCAGAAAACAAATCCTGCGGTGTCGCATTTCCTGCAACGTGAGCCAGGTCGGGCGGGGTGAAGGGTCTGAGGCCACCGCAGGGACGCATGGGCTGGAGAGTGGGGCAGAGGACAGCCCCCACCCGGTCACTCAGTCTTTGGCCCGGCCGCCTCACTCTCCCTCACTGAGCTGGGCCTAGTTGGGGGCAGCTGCGATGGGGTGGGAAGCCACGCTGTCACCCGACCCCGCCTTACGGCCCCTGAAATCCGAGGCTTGAGCGCGGGTGTCGGTGTCGCTTTCGTGGATGGCGATGGTTTCCAGATGCAGGAGGGGAAGGGTGGGGACGCGACCCGGAGCCGGGGGCCAAATATGAGAGGCCTCCTCTGCCCACAGTCAGCCCTCTCCCCTCTCGGGCGGGGATGAAGGTGGGGGCTCAGCTCCCAGCTTAGGGAGAGGCGCAGGGGGCGGGGTCACATCTGGCCGGGGACGGGTGCAGAGCCGCGGCCAGGTGTGGCAAAGTAGTTGGCGCCCCCTGTGGCATCCGCGACGGCTGGGGGGGTTCAGCCTGGGATTGGCGGGCCCCGGGTGATGTCAGGCCGTCGGAGCCCATAGGCTGGCTGTGCGCGGGTGGCTGTAACCTGAGAGGAAGTATCAGGTAACGCAGGTGTCGGGTCCTGCCGCCCCCACAGCCAGGTGCACAGCGGGGGCCACCAGCACCGTGGCAGGTAGGAGCAGCCCCCGGACGGGCAACCGGGGTCCGTGGCAAGCCGGAGCCTCCGAGAGCACAGGCTCTGGAGGGGGCTCCCTCCGGCCCCGGACCCCCGAAAGACAGGGCTCCGCGGAGCCCTGGGGACCCGCAGTCCTTCTGACAGCCGAGAGCGGAGTGCGGCCGAGGGCCTAGTGAGGGCTAAGCTGGGAGGTGCCCCTTCGCCAGCTCCCCCTGGCGTCGGGGCTGGGCCACCCCGCCCCTGGGCCCGCCTCTTCTGGCCTCAGTGGGGGCCCCTGTGCCCCTTGGCCGGTGCCCAGAACCCCTCCCTGTAAGGCGGGCGGAGCCTGCCCTTCCACCGAGGCCCCCATGACCCTCGCCCGCTGCCCACTGTGAGAACCAGGGGGTCTAGGAAGTCAGCTGCTGCACCCCTCGACGGCCGCTGGCCGCGAGTCCCCAGGAGGTGAAGAGCTGGGTGGGGAGGCGTGGGGGGCGCCTACCGGGCAGGTGCCCGAGCCCCACCGGTCACTGTCTTCCCGCAGCTGAGCTCCTGTGACGGCCACGACGGGCTGCGGAGGCAGGACTCCAGCCGCAAGCCCCGCGCCTTCAGCAAGCAGCCCAGCACGGGGGACTACTACCGGCAGCTGGGCCGCTGCCCCGGCGAGACGCTGGCCGCACGCCCGGGCATGGCGCACAGCGAGGAGGTGCGTGCCCGCCAGCCCGCGCGCGCCGGCTGCCCGCGCCTCGGCCCTGCCGCCCGCGGCTCACTCGAAGGCCCCTCCGCTCCCCCGCAGGCGGCGCTGCTTCCTGGGAACCATGTTCCTAACGGCTGCGCCGCGGACCCCAAGGCGTCCAGGGAGCTGCCACCGCCGCCCCCACCGCCGCCGCCGCCCCTGCCGGAGGCCGCGAGTTCGCCACCGCCGGCCCCGCCTCTGCCCCTCGAGAGCGCTGGCCCTGGCTGCGGGCAGCGCCGCTCCTCCTCGTCCACCGGCAGTGAGTAGGGGCAGGTTGAGGGGCGTGGGGCGGCGCTAGCCCTGAAAGGGGAGGGAAATCTAGACACCGCCCCCTCCCCAGCTGTCACTGCCCGGGTCCTTCCTCTTCTACATGGTCTTCCGGCCACCCCTACCCCATTGAGTACTTGACCCTAAGAGAGGGCTCTGGGTTGCTTGAGGTCCTGCCAAAGCACGACCGGGCTGCACGGCCTGGGGCAAGTCCCTTCCCCAATCTGGGCCTGCCTCCCACCCCCTAGCTGTGTGGCCTGGGCAAGTCCCCTCCCCTCTCTGGGCCTCCTCCCACCAGCTAGAAAGGGCCTCCCAGCTCTGGCGCTGGTGTTTCCCATGAGCTGGTGCTGGTGTTTCTGATGAGCTGGTACTGGAGGGACACTCGAAGTAGAACCAGCTTCAGAGAGGCCCCGCAGCTAGCCACCCTTCCCCCTGCCCGTCTATCCTGAGCCTCTCTTCCTCTCTCCACGTCTTTCTCTTGTCCTTCCAAGCAGCACAGACCTGAAGTCTTCTTAGATATGCCAGGAACTCTTCCTAGCCAGTTTCTGCCAGGGGCCCTGGGCCAGCCAAGGCGTGGCTATGGGGGCAAAGCTGTGACCCACCGTGTTTCCCCCTCCCTCCCCGGTGACTTCCCTAGGCAACCTTTTTTAAGAGCTAGACTGGTGCAGGATTCCTGGGCTGCTTTTCTGTAGGGTGGGACAGTGTCCCCCTGCCAGGACACCTAGAAGGCCCAGGACAGAGTGCCTAGATGTGGTGCTCCCATCCCAGCCTGGCTGGGGTGTCTTCCTCACCCAGCCACTCAGGGCAGAGATCATGCTTAGTGGCACCCCTCAAAGCTTCATCTCCCTGACTAGAAGTGCAGAGCAGAGCTAGTCCCCCTACGGTTCCTATGGAGCCCCAGCCCCTGCAGACCAGAGCCCATGTAAGCAAGTCCAGCACCTGCCGAACCTCCTTCTTCCCTCCACAGCCTGCAGCAGGGCTGAAGCTAAGGGCAGAGAAAAACATACTCTGGGCTTCCCGAGACACCCTCACCCAGCACAGCCAGGGCTGGGTGCCCTACCCCAACCCAGTGCCAAGGTGGAGGCCCTTGCTAGGGGCTAGAGCCAGTGGTGGCCCTGCCCAGCCCTCAGGGGCACCAGCCAAGCCAGGAACTCGATGGACCACCCTCATGGGGCCCCAGAGCAGCCTGAGCCAGGGTCAGATGGGCAGAAAAGCTCCTCCTCTCTTCTCCACTTCCCCCCCGCCCGCTCTCCCTGGCCCGCTCCCTGTCCCCTGCTGTCCCAGTCTCATCCTGCCCCCCCTCCCTCCTAACTCCGCTGTCACTTCTCTCCTCTTGGTCCCTAGAAGTGAGAGTCCTGAGGCACAGGAAGAGTGAGTAGCTGCGTGCGCGGCTCCTGGCTGAGGCTGAGGCGCGGGGTGGGGGGAAGAGGCAGGAAAAGCAAGGCAGAAGGGGCCCAGACTTGAGGAAAGGGCAGGGGCAGGGGCTGGCAGGCGAGAGAACCTCGAAGAATGGGTGGGGCCTTGCACCTCATACCTACCCTCATACCCACATATGCACCCAAGCATTCTGCACCTGGCTGATGGTTTTGCCTAAATAAATGAGCCAGCCACACCGATTTTCCCTTTCTCCTACTCTTCTCCCCCACCACCCCCACCCGCTGTGACTGCATTCTGGGATCCCCAGCCTGGGAATCCAAGAGCTGTCGGCCCATTTTATTCCTCCCTCCCAGACCTGACCCCTTCATCGGGGCTCAAGAGACCTCTCTCTCCAAATCTCCATTTGCCTCCTCTGGCTAAGCTGGAAAATGCACACTCTGCCCTGGGTGTTTCCATATTATCCGCCTGCCCTTCCTCCTGGGTGCCTCCCGTAGCCTTAGTAAGGGCTCTGCTTTCCTGGGCCCCTAGAGCT	TGCAGGCCAGCTCCAGTAGCTGCCCTCTTCATGCCACCTTAGACCAAGCTCCCACAGTGGCTTCCCCTTTCATCTCTGGGAGGCAGAGGGGGCCCTGGAATCGCTGAGTTCCCAACGCAGACTGTTGGCCCCGCCCAAATCCACAGGACAGGTGGCCCAGCCAGTGCCCCGTCTCCACCGTTGAGCCCAAGTGCCAGGTCTGCGTGGTCCCCTCCTGGCTGTGTGAGCCCCCTCCCGGCTGTGTGCGTCCCTCCGGGCTGTGTGCGCCCCTCCCGGCTGTGTGCGCCCCTCCCCACTGTGTGCGCCCCTCCCGGCTATGTGCGTCCATCTCGGCCGTGTGCGTGCTGGGCCGCAGGCGCCAGGGCCGGGGCCCGGACGCTCCACAAAGGGCTCTTTGTGTCGCCGCGGCGCCCCCCGCGCGGGTGCCTGACCGGGGGCGGGAGCAGGGTCGTGGCGTCCGAACCTCCGGGCTGCAGGGGGCGCGGAGCGGGCGGGCTGGCCCAGAAAACAAATCCTGCGGTGTCGCATTTCCTGCAACGTGAGCCAGGTCGGGCGGGGTGAAGGGTCTGAGGCCACCGCAGGGACGCATGGGCTGGAGAGTGGGGCAGAGGACAGCCCCCACCCGGTCACTCAGTCTTTGGCCCGGCCGCCTCACTCTCCCTCACTGAGCTGGGCCTAGTTGGGGGCAGCTGCGATGGGGTGGGAAGCCACGCTGTCACCCGACCCCGCCTTACGGCCCCTGAAATCCGAGGCTTGAGCGCGGGTGTCGGTGTCGCTTTCGTGGATGGCGATGGTTTCCAGATGCAGGAGGGGAAGGGTGGGGACGCGACCCGGAGCCGGGGGCCAAATATGAGAGGCCTCCTCTGCCCACAGTCAGCCCTCTCCCCTCTCGGGCGGGGATGAAGGTGGGGGCTCAGCTCCCAGCTTAGGGAGAGGCGCAGGGGGCGGGGTCACATCTGGCCGGGGACGGGTGCAGAGCCGCGGCCAGGTGTGGCAAAGTAGTTGGCGCCCCCTGTGGCATCCGCGACGGCTGGGGGGGTTCAGCCTGGGATTGGCGGGCCCCGGGTGATGTCAGGCCGTCGGAGCCCATAGGCTGGCTGTGCGCGGGTGGCTGTAACCTGAGAGGAAGTATCAGGTAACGCAGGTGTCGGGTCCTGCCGCCCCCACAGCCAGGTGCACAGCGGGGGCCACCAGCACCGTGGCAGGTAGGAGCAGCCCCCGGACGGGCAACCGGGGTCCGTGGCAAGCCGGAGCCTCCGAGAGCACAGGCTCTGGAGGGGGCTCCCTCCGGCCCCGGACCCCCGAAAGACAGGGCTCCGCGGAGCCCTGGGGACCCGCAGTCCTTCTGACAGCCGAGAGCGGAGTGCGGCCGAGGGCCTAGTGAGGGCTAAGCTGGGAGGTGCCCCTTCGCCAGCTCCCCCTGGCGTCGGGGCTGGGCCACCCCGCCCCTGGGCCCGCCTCTTCTGGCCTCAGTGGGGGCCCCTGTGCCCCTTGGCCGGTGCCCAGAACCCCTCCCTGTAAGGCGGGCGGAGCCTGCCCTTCCACCGAGGCCCCCATGACCCTCGCCCGCTGCCCACTGTGAGAACCAGGGGGTCTAGGAAGTCAGCTGCTGCACCCCTCGACGGCCGCTGGCCGCGAGTCCCCAGGAGGTGAAGAGCTGGGTGGGGAGGCGTGGGGGGCGCCTACCGGGCAGGTGCCCGAGCCCCACCGGTCACTGTCTTCCCGCAGCTGAGCTCCTGTGACGGCCACGACGGGCTGCGGAGGCAGGACTCCAGCCGCAAGCCCCGCGCCTTCAGCAAGCAGCCCAGCACGGGGGACTACTACCGGCAGCTGGGCCGCTGCCCCGGCGAGACGCTGGCCGCACGCCCGGGCATGGCGCACAGCGAGGAGGTGCGTGCCCGCCAGCCCGCGCGCGCCGGCTGCCCGCGCCTCGGCCCTGCCGCCCGCGGCTCACTCGAAGGCCCCTCCGCTCCCCCGCAGGCGGCGCTGCTTCCTGGGAACCATGTTCCTAACGGCTGCGCCGCGGACCCCAAGGCGTCCAGGGAGCTGCCACCGCCGCCGCCGCCCCTGCCGGAGGCCGCGAGTTCGCCACCGCCGGCCCCGCCTCTGCCCCTCGAGAGCGCTGGCCCTGGCTGCGGGCAGCGCCGCTCCTCCTCGTCCACCGGCAGTGAGTAGGGGCAGGTTGAGGGGCGTGGGGCGGCGCTAGCCCTGAAAGGGGAGGGAAATCTAGACACCGCCCCCTCCCCAGCTGTCACTGCCCGGGTCCTTCCTCTTCTACATGGTCTTCCGGCCACCCCTACCCCATTGAGTACTTGACCCTAAGAGAGGGCTCTGGGTTGCTTGAGGTCCTGCCAAAGCACGACCGGGCTGCACGGCCTGGGGCAAGTCCCTTCCCCAATCTGGGCCTGCCTCCCACCCCCTAGCTGTGTGGCCTGGGCAAGTCCCCTCCCCTCTCTGGGCCTCCTCCCACCAGCTAGAAAGGGCCTCCCAGCTCTGGCGCTGGTGTTTCCCATGAGCTGGTGCTGGTGTTTCTGATGAGCTGGTACTGGAGGGACACTCGAAGTAGAACCAGCTTCAGAGAGGCCCCGCAGCTAGCCACCCTTCCCCCTGCCCGTCTATCCTGAGCCTCTCTTCCTCTCTCCACGTCTTTCTCTTGTCCTTCCAAGCAGCACAGACCTGAAGTCTTCTTAGATATGCCAGGAACTCTTCCTAGCCAGTTTCTGCCAGGGGCCCTGGGCCAGCCAAGGCGTGGCTATGGGGGCAAAGCTGTGACCCACCGTGTTTCCCCCTCCCTCCCCGGTGACTTCCCTAGGCAACCTTTTTTAAGAGCTAGACTGGTGCAGGATTCCTGGGCTGCTTTTCTGTAGGGTGGGACAGTGTCCCCCTGCCAGGACACCTAGAAGGCCCAGGACAGAGTGCCTAGATGTGGTGCTCCCATCCCAGCCTGGCTGGGGTGTCTTCCTCACCCAGCCACTCAGGGCAGAGATCATGCTTAGTGGCACCCCTCAAAGCTTCATCTCCCTGACTAGAAGTGCAGAGCAGAGCTAGTCCCCCTACGGTTCCTATGGAGCCCCAGCCCCTGCAGACCAGAGCCCATGTAAGCAAGTCCAGCACCTGCCGAACCTCCTTCTTCCCTCCACAGCCTGCAGCAGGGCTGAAGCTAAGGGCAGAGAAAAACATACTCTGGGCTTCCCGAGACACCCTCACCCAGCACAGCCAGGGCTGGGTGCCCTACCCCAACCCAGTGCCAAGGTGGAGGCCCTTGCTAGGGGCTAGAGCCAGTGGTGGCCCTGCCCAGCCCTCAGGGGCACCAGCCAAGCCAGGAACTCGATGGACCACCCTCATGGGGCCCCAGAGCAGCCTGAGCCAGGGTCAGATGGGCAGAAAAGCTCCTCCTCTCTTCTCCACTTCCCCCCCGCCCGCTCTCCCTGGCCCGCTCCCTGTCCCCTGCTGTCCCAGTCTCATCCTGCCCCCCCTCCCTCCTAACTCCGCTGTCACTTCTCTCCTCTTGGTCCCTAGAAGTGAGAGTCCTGAGGCACAGGAAGAGTGAGTAGCTGCGTGCGCGGCTCCTGGCTGAGGCTGAGGCGCGGGGTGGGGGGAAGAGGCAGGAAAAGCAAGGCAGAAGGGGCCCAGACTTGAGGAAAGGGCAGGGGCAGGGGCTGGCAGGCGAGAGAACCTCGAAGAATGGGTGGGGCCTTGCACCTCATACCTACCCTCATACCCACATATGCACCCAAGCATTCTGCACCTGGCTGATGGTTTTGCCTAAATAAATGAGCCAGCCACACCGATTTTCCCTTTCTCCTACTCTTCTCCCCCACCACCCCCACCCGCTGTGACTGCATTCTGGGATCCCCAGCCTGGGAATCCAAGAGCTGTCGGCCCATTTTATTCCTCCCTCCCAGACCTGACCCCTTCATCGGGGCTCAAGAGACCTCTCTCTCCAAATCTCCATTTGCCTCCTCTGGCTAAGCTGGAAAATGCACACTCTGCCCTGGGTGTTTCCATATTATCCGCCTGCCCTTCCTCCTGGGTGCCTCCCGTAGCCTTAGTAAGGGCTCTGCTTTCCTGGGCCCCTAGAGCTNNNNNNNNNNNN	benign	1,419
Evaluate this variant at chromosome 1, position 6467933, gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Charcot-Marie-Tooth_disease_recessive_intermediate_C', 'Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_4']	CTGGGAGGGGTTTCCTCTCAGTGGAAGGGCTACGCCCTGGAGGAGCCTTTAACGAGATCGGAAAGGGCGGCCAACCCAGCCCCCAGTGAGGCTTGGAGTGGAGACGCGCCCGGGGCCCCTTCCTTCACCGAGGCTCTTGGGACAGGGCTCAAAGCTGCCCCTAGCCTCCTGCGTCTCAACTCACCGCCGCCACCGCCGCGCAGCCCCGCGGCCGCTGCTCCATAGCCCTCCGACGGGCGCCCAGGGGCTTCCCGGCTCCGTGCTCTCTGCCCGTCGTGGTTCCGCCTTCAGCCCCGCGCCCGCAGGGCCCGCCCCGCGCCGTCGAGAAGGGCCCGCCTGGCGGGCGGGGGGAGGCGGGGCCGCCCGAGCCCAACCGAGTCCGACCAGGTGCCCCCTCTGCTCGGCCTAGACCTGAGCTCATTAGGCGGCAGCGGACAGGCCAAGTAGAACACGCGAAGCGCTGGGCTGCCTGCTGCGACCAGGGGCACAGGATAGAGCTGCATCTCGGTCCCCACCCCGACTCTCGCCCCAACCCTGAGAACCACTTCAAGGTAGAGCCAGGGCAAGTGACTTCTCTCTCGGCCTCCGCGTCCCCAGCCATGGAGGAGGTTGGGCCAAAAGTACCGCAAGGGGCCAAGCGCAGTAGCTCAGGCCTGTAATTCTAGCACTATGGGAGGCAGAGGCGGGCGGAACACTTGGGGTCAGGAGTTCGAGACCAGCCTGACCAATATGGTGAAATGCCGTCTCTACTTAAAATACAAAAACTAGCCCGGCGTGGTGGTGCACACCTGCAGTTCCAGCTACTAGAGTGGCTGGGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGACATCACACCACTGCACTCCAACCTAGGTGACAGAGTGAGACTCTGTATTAAAAAAAAAAAAAAAGTTCCTGAAGGGACCCCCATGGAGGACCCACCTTCCCAAGAGGGCTGGCCTGAGTGTGGGAACTGGGCAGATTCAGCCCTGAATCCCCGGGGGGCACCTGGGGAGAGGCTCTGATGGTGGCTGAAGGTGGGGAAGTCTGGGGGTGTTGGTCTGGTGGCACCCCACACCCCATTACTTCCCAGTGCTTCCCATGGCAAGCTCCATCCGTGGCCCATCCGTGGCAAGTGGAGGAGCACAGGAACACAAGGAGGCCGCCCTGAACTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGG	CTGGGAGGGGTTTCCTCTCAGTGGAAGGGCTACGCCCTGGAGGAGCCTTTAACGAGATCGGAAAGGGCGGCCAACCCAGCCCCCAGTGAGGCTTGGAGTGGAGACGCGCCCGGGGCCCCTTCCTTCACCGAGGCTCTTGGGACAGGGCTCAAAGCTGCCCCTAGCCTCCTGCGTCTCAACTCACCGCCGCCACCGCCGCGCAGCCCCGCGGCCGCTGCTCCATAGCCCTCCGACGGGCGCCCAGGGGCTTCCCGGCTCCGTGCTCTCTGCCCGTCGTGGTTCCGCCTTCAGCCCCGCGCCCGCAGGGCCCGCCCCGCGCCGTCGAGAAGGGCCCGCCTGGCGGGCGGGGGGAGGCGGGGCCGCCCGAGCCCAACCGAGTCCGACCAGGTGCCCCCTCTGCTCGGCCTAGACCTGAGCTCATTAGGCGGCAGCGGACAGGCCAAGTAGAACACGCGAAGCGCTGGGCTGCCTGCTGCGACCAGGGGCACAGGATAGAGCTGCATCTCGGTCCCCACCCCGACTCTCGCCCCAACCCTGAGAACCACTTCAAGGTAGAGCCAGGGCAAGTGACTTCTCTCTCGGCCTCCGCGTCCCCAGCCATGGAGGAGGTTGGGCCAAAAGTACCGCAAGGGGCCAAGCGCAGTAGCTCAGGCCTGTAATTCTAGCACTATGGGAGGCAGAGGCGGGCGGAACACTTGGGGTCAGGAGTTCGAGACCAGCCTGACCAATATGGTGAAATGCCGTCTCTACTTAAAATACAAAAACTAGCCCGGCGTGGTGGTGCACACCTGCAGTTCCAGCTACTAGAGTGGCTGGGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGACATCACACCACTGCACTCCAACCTAGGTGACAGAGTGAGACTCTGTATTAAAAAAAAAAAAAAAGTTCCTGAAGGGACCCCCATGGAGGACCCACCTTCCCAAGAGGGCTGGCCTGAGTGTGGGAACTGGGCAGATTCAGCCCTGAATCCCCGGGGGGCACCTGGGGAGAGGCTCTGATGGTGGCTGAAGGTGGGGAAGTCTGGGGGTGTTGGTCTGGTGGCACCCCACACCCCATTACTTCCCAGTGCTTCCCATGGCAAGCTCCATCCGTGGCCCATCCGTGGCAAGTGGAGGAGCACAGGAACACAAGGAGGCCGCCCTGAACTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGN	pathogenic	1,452
Chromosome 1, position 6469122, gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).	benign	CTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCG	CTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGNNN	benign	1,478
Is the genetic variant on chromosome 1, position 6469122, gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5), benign or pathogenic? If pathogenic, what disease(s) is indicated?	benign	CTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCG	CTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGNNNNNN	benign	1,479
Clinical classification of chromosome 1, position 6469126, gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5): benign or pathogenic? Disease(s) if pathogenic?	benign	AGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGC	AGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCN	benign	1,480
Is the genetic mutation found on chromosome 1 at position 6469128, within the gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5), considered benign or pathogenic? If pathogenic, specify the associated disease(s).	benign	TGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGC	TGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCTTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCG	benign	1,483
Gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5) variant at chromosome position 6469129 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?	benign	GCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCA	GCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCANN	benign	1,484
Classify the chromosome 1 variant at position 6470357 affecting gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5) as benign or pathogenic. If pathogenic, which disease(s) is associated?	benign	CCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCAAGCGCTTCCTTACTGCACTTGGGCGACCACCCCAAGGGGGCAGCAAGCTTATGATCCCTGTTTCCTGATGAGGAAACTGAGCCTCAGCCAAAGTGACCACCCGTGGCCAGGGATCAGGGGTAGATGGTCAGGTGGAGGCTCAAACCCGGGCGACCGCCTCGTAATTCCTCACCCTTGGCCACAAGGGGTCAAGTGCGGTTACGGGCCTGGGGGAGGTTGGGGATGCTGGGCAGACCGGATCGGGCCGTGGAGGCTTTTCGGCGCCCCAGCCCTGCCTCAGTGCCCCCGCCTGCGCCCGGCCCCGCCCGTACCATCTTGAAGCCTTTGAGGAAGTCCCCGGGCTGTAGCAGCGCTCGCGTGCGCCGCGCCTTCTCCAGCACCGGCGCCATCACGCTAGCCCACAGCCTGCGGTGCAGCTGCGCGATCTCCGGGATGTTGCTGAACAGGCGCTCCGCCTCCACCTGGGCGCGGCGGGAGGTGCGGTTGGCCACGCCCCTCCGCCAGGTTAGCCCCGCCCCAGGTCCAGGTCCCGCCCTCCTTCCTGGTACCTCACCCGCCGCCGCCCCCGAATCCCAGCGCACCTCACACAGCAGCCCTGACTCTTGCAGGTTCAGGAGGCAGCACAGGAACAGCTGTGGGATCAGGGGATGGTGTGACTGGGGTCGGGAGGCTGTCTCAGCCCTAGGGCCCCACCCAGCCTCAGGCTCCCCTGCCACTCCTTCCCCTTCCCCGTTCCAGGAGGCCCCACAGCAGCCACGGATAAGAAGGCTGTACCCTTTGGCCTTCGCACCTGGGTAGTCCAGACCCTGAGGAAAGACCCAGTCCTCATAGCCCTCCCGAGGTCACACTGCCCTGGTCCCTCCTGGAGGGAAGCTCGGGGGAGACTGGCTTTGAAGCCATGCCTGGAATTCCCTTCTCCACCTCTGCCCTGGCTTAGCCTCCAGATTTCACCTCTGAGGGTGCTTCCTCCCTCCAGGAAGCTCCAAGCCCAGGGTAGGTGCTCCCCTCCCTGAGCCGAAATCCCTACACTGCCAGCTCACTCTGTCCCGTCCAGGGCGTGGCCTGCTGGGCACCCAGCACACAGCAAGTGTTGGGAAACAGCCACTGAACGAAAGTGAAAGAATGAGGCCTCACCTGTGCTAATTCAGCTGAACCTGACAAACCTGCCCGAAGCCCCCTCCCAGGTTCCTCTAGGAGGCACCTCCTCCCTGGGCGCAGCCCTTGTCTG	CCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCAAGCGCTTCCTTACTGCACTTGGGCGACCACCCCAAGGGGGCAGCAAGCTTATGATCCCTGTTTCCTGATGAGGAAACTGAGCCTCAGCCAAAGTGACCACCCGTGGCCAGGGATCAGGGGTAGATGGTCAGGTGGAGGCTCAAACCCGGGCGACCGCCTCGTAATTCCTCACCCTTGGCCACAAGGGGTCAAGTGCGGTTACGGGCCTGGGGGAGGTTGGGGATGCTGGGCAGACCGGATCGGGCCGTGGAGGCTTTTCGGCGCCCCAGCCCTGCCTCAGTGCCCCCGCCTGCGCCCGGCCCCGCCCGTACCATCTTGAAGCCTTTGAGGAAGTCCCCGGGCTGTAGCAGCGCTCGCGTGCGCCGCGCCTTCTCCAGCACCGGCGCCATCACGCTAGCCCACAGCCTGCGGTGCAGCTGCGCGATCTCCGGGATGTTGCTGAACAGGCGCTCCGCCTCCACCTGGGCGCGGCGGGAGGTGCGGTTGGCCACGCCCCTCCGCCAGGTTAGCCCCGCCCCAGGTCCAGGTCCCGCCCTCCTTCCTGGTACCTCACCCGCCGCCGCCCCCGAATCCCAGCGCACCTCACACAGCAGCCCTGACTCTTGCAGGTTCAGGAGGCAGCACAGGAACAGCTGTGGGATCAGGGGATGGTGTGACTGGGGTCGGGAGGCTGTCTCAGCCCTAGGGCCCCACCCAGCCTCAGGCTCCCCTGCCACTCCTTCCCCTTCCCCGTTCCAGGAGGCCCCACAGCAGCCACGGATAAGAAGGCTGTACCCTTTGGCCTTCGCACCTGGGTAGTCCAGACCCTGAGGAAAGACCCAGTCCTCATAGCCCTCCCGAGGTCACACTGCCCTGGTCCCTCCTGGAGGGAAGCTCGGGGGAGACTGGCTTTGAAGCCATGCCTGGAATTCCCTTCTCCACCTCTGCCCTGGCTTAGCCTCCAGATTTCACCTCTGAGGGTGCTTCCTCCCTCCAGGAAGCTCCAAGCCCAGGGTAGGTGCTCCCCTCCCTGAGCCGAAATCCCTACACTGCCAGCTCACTCTGTCCCGTCCAGGGCGTGGCCTGCTGGGCACCCAGCACACAGCAAGTGTTGGGAAACAGCCACTGAACGAAAGTGAAAGAATGAGGCCTCACCTGTGCTAATTCAGCTGAACCTGACAAACCTGCCCGAAGCCCCCTCCCAGGTTCCTCTAGGAGGCACCT	benign	1,504
Evaluate this variant at chromosome 1, position 6470905, gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5): benign or pathogenic? If pathogenic, what are the disease connection(s)?	benign	GGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCAAGCGCTTCCTTACTGCACTTGGGCGACCACCCCAAGGGGGCAGCAAGCTTATGATCCCTGTTTCCTGATGAGGAAACTGAGCCTCAGCCAAAGTGACCACCCGTGGCCAGGGATCAGGGGTAGATGGTCAGGTGGAGGCTCAAACCCGGGCGACCGCCTCGTAATTCCTCACCCTTGGCCACAAGGGGTCAAGTGCGGTTACGGGCCTGGGGGAGGTTGGGGATGCTGGGCAGACCGGATCGGGCCGTGGAGGCTTTTCGGCGCCCCAGCCCTGCCTCAGTGCCCCCGCCTGCGCCCGGCCCCGCCCGTACCATCTTGAAGCCTTTGAGGAAGTCCCCGGGCTGTAGCAGCGCTCGCGTGCGCCGCGCCTTCTCCAGCACCGGCGCCATCACGCTAGCCCACAGCCTGCGGTGCAGCTGCGCGATCTCCGGGATGTTGCTGAACAGGCGCTCCGCCTCCACCTGGGCGCGGCGGGAGGTGCGGTTGGCCACGCCCCTCCGCCAGGTTAGCCCCGCCCCAGGTCCAGGTCCCGCCCTCCTTCCTGGTACCTCACCCGCCGCCGCCCCCGAATCCCAGCGCACCTCACACAGCAGCCCTGACTCTTGCAGGTTCAGGAGGCAGCACAGGAACAGCTGTGGGATCAGGGGATGGTGTGACTGGGGTCGGGAGGCTGTCTCAGCCCTAGGGCCCCACCCAGCCTCAGGCTCCCCTGCCACTCCTTCCCCTTCCCCGTTCCAGGAGGCCCCACAGCAGCCACGGATAAGAAGGCTGTACCCTTTGGCCTTCGCACCTGGGTAGTCCAGACCCTGAGGAAAGACCCAGTCCTCATAGCCCTCCCGAGGTCACACTGCCCTGGTCCCTCCTGGAGGGAAGCTCGGGGGAGACTGGCTTTGAAGCCATGCCTGGAATTCCCTTCTCCACCTCTGCCCTGGCTTAGCCTCCAGATTTCACCTCTGAGGGTGCTTCCTCCCTCCAGGAAGCTCCAAGCCCAGGGTAGGTGCTCCCCTCCCTGAGCCGAAATCCCTACACTGCCAGCTCACTCTGTCCCGTCCAGGGCGTGGCCTGCTGGGCACCCAGCACACAGCAAGTGTTGGGAAACAGCCACTGAACGAAAGTGAAAGAATGAGGCCTCACCTGTGCTAATTCAGCTGAACCTGACAAACCTGCCCGAAGCCCCCTCCCAGGTTCCTCTAGGAGGCACCTCCTCCCTGGGCGCAGCCCTTGTCTGACTTTCCTGCCCCCACCTCATTGCCAGGCACCTGCTCCTTCTGCAAAGGCTCAGACTCAGCTGAGGGCTGTCAGAAAGAGGGGGGCAGGGTGGCCACGGGGACCAGCGCAGCCCCTACTCACGTTGATGATCACCCGCAGTTTCCTGATGTAGGAGGCCTCCGTGTGCAGCAGCTCCCACACCGCCTCCTGCTGGTGGCACTGCCGCCGGGTCAGCTTCTAGAGGGAGGGCAGGATGGGTCATTCACGAGGCCTGGAGCACCTTAGGGTGGCCGGGGAGGATAAGCAACCTGCATGCAACTCTCATTTTCCCAATGGGGACATGGAGGTCCCAAGAGGAGCAGGGTCACCCTTGACACCACATGAGTAATCACAGTTAAGACACCCAAGATCTGGGCCCTCCTCTGCCATTAAAACAGCCAAGCAGCACACCATTTTCATCTAGCCTCAGTGTCTCCAAAGTGGGCTAATGGTAACAGTGGCCTCTTTGGGGCGTCCCATGGAACATCTGATCACTGGGTCCTCCCGAGGGCTGTCCTCCTTTCGGGA	GGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCAAGCGCTTCCTTACTGCACTTGGGCGACCACCCCAAGGGGGCAGCAAGCTTATGATCCCTGTTTCCTGATGAGGAAACTGAGCCTCAGCCAAAGTGACCACCCGTGGCCAGGGATCAGGGGTAGATGGTCAGGTGGAGGCTCAAACCCGGGCGACCGCCTCGTAATTCCTCACCCTTGGCCACAAGGGGTCAAGTGCGGTTACGGGCCTGGGGGAGGTTGGGGATGCTGGGCAGACCGGATCGGGCCGTGGAGGCTTTTCGGCGCCCCAGCCCTGCCTCAGTGCCCCCGCCTGCGCCCGGCCCCGCCCGTACCATCTTGAAGCCTTTGAGGAAGTCCCCGGGCTGTAGCAGCGCTCGCGTGCGCCGCGCCTTCTCCAGCACCGGCGCCATCACGCTAGCCCACAGCCTGCGGTGCAGCTGCGCGATCTCCGGGATGTTGCTGAACAGGCGCTCCGCCTCCACCTGGGCGCGGCGGGAGGTGCGGTTGGCCACGCCCCTCCGCCAGGTTAGCCCCGCCCCAGGTCCAGGTCCCGCCCTCCTTCCTGGTACCTCACCCGCCGCCGCCCCCGAATCCCAGCGCACCTCACACAGCAGCCCTGACTCTTGCAGGTTCAGGAGGCAGCACAGGAACAGCTGTGGGATCAGGGGATGGTGTGACTGGGGTCGGGAGGCTGTCTCAGCCCTAGGGCCCCACCCAGCCTCAGGCTCCCCTGCCACTCCTTCCCCTTCCCCGTTCCAGGAGGCCCCACAGCAGCCACGGATAAGAAGGCTGTACCCTTTGGCCTTCGCACCTGGGTAGTCCAGACCCTGAGGAAAGACCCAGTCCTCATAGCCCTCCCGAGGTCACACTGCCCTGGTCCCTCCTGGAGGGAAGCTCGGGGGAGACTGGCTTTGAAGCCATGCCTGGAATTCCCTTCTCCACCTCTGCCCTGGCTTAGCCTCCAGATTTCACCTCTGAGGGTGCTTCCTCCCTCCAGGAAGCTCCAAGCCCAGGGTAGGTGCTCCCCTCCCTGAGCCGAAATCCCTACACTGCCAGCTCACTCTGTCCCGTCCAGGGCGTGGCCTGCTGGGCACCCAGCACACAGCAAGTGTTGGGAAACAGCCACTGAACGAAAGTGAAAGAATGAGGCCTCACCTGTGCTAATTCAGCTGAACCTGACAAACCTGCCCGAAGCCCCCTCCCAGGTTCCTCTAGGAGGCACCTCCTCCCTGGGCGCAGCCCTTGTCTGACTTTCCTGCCCCCACCTCATTGCCAGGCACCTGCTCCTTCTGCAAAGGCTCAGACTCAGCTGAGGGCTGTCAGAAAGAGGGGGGCAGGGTGGCCACGGGGACCAGCGCAGCCCCTACTCACGTTGATGATCACCCGCAGTTTCCTGATGTAGGAGGCCTCCGTGTGCAGCAGCTCCCACACCGCCTCCTGCTGGTGGCACTGCCGCCGGGTCAGCTTCTAGAGGGAGGGCAGGATGGGTCATTCACGAGGCCTGGAGCACCTTAGGGTGGCCGGGGAGGATAAGCAACCTGCATGCAACTCTCATTTTCCCAATGGGGACATGGAGGTCCCAAGAGGAGCAGGGTCACCCTTGACACCACATGAGTAATCACAGTTAAGACACCCAAGATCTGGGCCCTCCTCTGCCATTAAAACAGCCAAGCAGCACACCATTTTCATCTAGCCTCAGTGTCTCCAAAGTGGGCTAATGGTAACAGTGGCCTCTTTGGGGCGTCCCATGGAACATCTGATCACTGGGTCCTCCCGAGGGCTGTCCTCCTTTCGGG	benign	1,512
Evaluate if the mutation on chromosome 1 at position 6470965 in PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5) is benign or pathogenic. Disease name(s) if pathogenic?	benign	CCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCAAGCGCTTCCTTACTGCACTTGGGCGACCACCCCAAGGGGGCAGCAAGCTTATGATCCCTGTTTCCTGATGAGGAAACTGAGCCTCAGCCAAAGTGACCACCCGTGGCCAGGGATCAGGGGTAGATGGTCAGGTGGAGGCTCAAACCCGGGCGACCGCCTCGTAATTCCTCACCCTTGGCCACAAGGGGTCAAGTGCGGTTACGGGCCTGGGGGAGGTTGGGGATGCTGGGCAGACCGGATCGGGCCGTGGAGGCTTTTCGGCGCCCCAGCCCTGCCTCAGTGCCCCCGCCTGCGCCCGGCCCCGCCCGTACCATCTTGAAGCCTTTGAGGAAGTCCCCGGGCTGTAGCAGCGCTCGCGTGCGCCGCGCCTTCTCCAGCACCGGCGCCATCACGCTAGCCCACAGCCTGCGGTGCAGCTGCGCGATCTCCGGGATGTTGCTGAACAGGCGCTCCGCCTCCACCTGGGCGCGGCGGGAGGTGCGGTTGGCCACGCCCCTCCGCCAGGTTAGCCCCGCCCCAGGTCCAGGTCCCGCCCTCCTTCCTGGTACCTCACCCGCCGCCGCCCCCGAATCCCAGCGCACCTCACACAGCAGCCCTGACTCTTGCAGGTTCAGGAGGCAGCACAGGAACAGCTGTGGGATCAGGGGATGGTGTGACTGGGGTCGGGAGGCTGTCTCAGCCCTAGGGCCCCACCCAGCCTCAGGCTCCCCTGCCACTCCTTCCCCTTCCCCGTTCCAGGAGGCCCCACAGCAGCCACGGATAAGAAGGCTGTACCCTTTGGCCTTCGCACCTGGGTAGTCCAGACCCTGAGGAAAGACCCAGTCCTCATAGCCCTCCCGAGGTCACACTGCCCTGGTCCCTCCTGGAGGGAAGCTCGGGGGAGACTGGCTTTGAAGCCATGCCTGGAATTCCCTTCTCCACCTCTGCCCTGGCTTAGCCTCCAGATTTCACCTCTGAGGGTGCTTCCTCCCTCCAGGAAGCTCCAAGCCCAGGGTAGGTGCTCCCCTCCCTGAGCCGAAATCCCTACACTGCCAGCTCACTCTGTCCCGTCCAGGGCGTGGCCTGCTGGGCACCCAGCACACAGCAAGTGTTGGGAAACAGCCACTGAACGAAAGTGAAAGAATGAGGCCTCACCTGTGCTAATTCAGCTGAACCTGACAAACCTGCCCGAAGCCCCCTCCCAGGTTCCTCTAGGAGGCACCTCCTCCCTGGGCGCAGCCCTTGTCTGACTTTCCTGCCCCCACCTCATTGCCAGGCACCTGCTCCTTCTGCAAAGGCTCAGACTCAGCTGAGGGCTGTCAGAAAGAGGGGGGCAGGGTGGCCACGGGGACCAGCGCAGCCCCTACTCACGTTGATGATCACCCGCAGTTTCCTGATGTAGGAGGCCTCCGTGTGCAGCAGCTCCCACACCGCCTCCTGCTGGTGGCACTGCCGCCGGGTCAGCTTCTAGAGGGAGGGCAGGATGGGTCATTCACGAGGCCTGGAGCACCTTAGGGTGGCCGGGGAGGATAAGCAACCTGCATGCAACTCTCATTTTCCCAATGGGGACATGGAGGTCCCAAGAGGAGCAGGGTCACCCTTGACACCACATGAGTAATCACAGTTAAGACACCCAAGATCTGGGCCCTCCTCTGCCATTAAAACAGCCAAGCAGCACACCATTTTCATCTAGCCTCAGTGTCTCCAAAGTGGGCTAATGGTAACAGTGGCCTCTTTGGGGCGTCCCATGGAACATCTGATCACTGGGTCCTCCCGAGGGCTGTCCTCCTTTCGGGACAAGGAGGGAGCAGCACTGTGGCCCGCACTCACCTCATGCCCATCAATGAGCTCCCGCCA	CCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCAAGCGCTTCCTTACTGCACTTGGGCGACCACCCCAAGGGGGCAGCAAGCTTATGATCCCTGTTTCCTGATGAGGAAACTGAGCCTCAGCCAAAGTGACCACCCGTGGCCAGGGATCAGGGGTAGATGGTCAGGTGGAGGCTCAAACCCGGGCGACCGCCTCGTAATTCCTCACCCTTGGCCACAAGGGGTCAAGTGCGGTTACGGGCCTGGGGGAGGTTGGGGATGCTGGGCAGACCGGATCGGGCCGTGGAGGCTTTTCGGCGCCCCAGCCCTGCCTCAGTGCCCCCGCCTGCGCCCGGCCCCGCCCGTACCATCTTGAAGCCTTTGAGGAAGTCCCCGGGCTGTAGCAGCGCTCGCGTGCGCCGCGCCTTCTCCAGCACCGGCGCCATCACGCTAGCCCACAGCCTGCGGTGCAGCTGCGCGATCTCCGGGATGTTGCTGAACAGGCGCTCCGCCTCCACCTGGGCGCGGCGGGAGGTGCGGTTGGCCACGCCCCTCCGCCAGGTTAGCCCCGCCCCAGGTCCAGGTCCCGCCCTCCTTCCTGGTACCTCACCCGCCGCCGCCCCCGAATCCCAGCGCACCTCACACAGCAGCCCTGACTCTTGCAGGTTCAGGAGGCAGCACAGGAACAGCTGTGGGATCAGGGGATGGTGTGACTGGGGTCGGGAGGCTGTCTCAGCCCTAGGGCCCCACCCAGCCTCAGGCTCCCCTGCCACTCCTTCCCCTTCCCCGTTCCAGGAGGCCCCACAGCAGCCACGGATAAGAAGGCTGTACCCTTTGGCCTTCGCACCTGGGTAGTCCAGACCCTGAGGAAAGACCCAGTCCTCATAGCCCTCCCGAGGTCACACTGCCCTGGTCCCTCCTGGAGGGAAGCTCGGGGGAGACTGGCTTTGAAGCCATGCCTGGAATTCCCTTCTCCACCTCTGCCCTGGCTTAGCCTCCAGATTTCACCTCTGAGGGTGCTTCCTCCCTCCAGGAAGCTCCAAGCCCAGGGTAGGTGCTCCCCTCCCTGAGCCGAAATCCCTACACTGCCAGCTCACTCTGTCCCGTCCAGGGCGTGGCCTGCTGGGCACCCAGCACACAGCAAGTGTTGGGAAACAGCCACTGAACGAAAGTGAAAGAATGAGGCCTCACCTGTGCTAATTCAGCTGAACCTGACAAACCTGCCCGAAGCCCCCTCCCAGGTTCCTCTAGGAGGCACCTCCTCCCTGGGCGCAGCCCTTGTCTGACTTTCCTGCCCCCACCTCATTGCCAGGCACCTGCTCCTTCTGCAAAGGCTCAGACTCAGCTGAGGGCTGTCAGAAAGAGGGGGGCAGGGTGGCCACGGGGACCAGCGCAGCCCCTACTCACGTTGATGATCACCCGCAGTTTCCTGATGTAGGAGGCCTCCGTGTGCAGCAGCTCCCACACCGCCTCCTGCTGGTGGCACTGCCGCCGGGTCAGCTTCTAGAGGGAGGGCAGGATGGGTCATTCACGAGGCCTGGAGCACCTTAGGGTGGCCGGGGAGGATAAGCAACCTGCATGCAACTCTCATTTTCCCAATGGGGACATGGAGGTCCCAAGAGGAGCAGGGTCACCCTTGACACCACATGAGTAATCACAGTTAAGACACCCAAGATCTGGGCCCTCCTCTGCCATTAAAACAGCCAAGCAGCACACCATTTTCATCTAGCCTCAGTGTCTCCAAAGTGGGCTAATGGTAACAGTGGCCTCTTTGGGGCGTCCCATGGAACATCTGATCACTGGGTCCTCCCGAGGGCTGTCCTCCTTTCGGGACAAGGAGGGAGCAGCACTGTGGCCCGCACTCACCTCATGCCCATCAATGAGCTCCCGCCANNNNNNNNNNNNNNN	benign	1,514
Is the variant located on chromosome 1 at position 7663346, gene CAMTA1 (calmodulin binding transcription activator 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.	benign	TGGTCCACCACCTCTATCCTGAGTCTCCACAAGAAGCTCACAGGCTGGGAAGTCCCTCAGCCTCCTGTCCACTCTCCTTCTGTCCTTGTTCCCTTTCTCTTCCATTCCAGCACCCCTGGAAGAGCCGCCTCGTGCACTCTGACTTTAGGGAAACAAAAGCAGAACTCTATGCGGTCCACTCCCTGGGCTGCACCATAGTGAGGGGGAGCTAAAGAGCTCAGAACCCCCGATGGGAGCAGGGGGTCTGGCGGGGGCAGCCTGGCCTCCCTTCCCCTCCTCCTCCCCTACTCATCAATTCGCCCCAGGAGCCAGCTCCCCAGCAGTGAGAGGGCTGCCCTCAGGGAGGGCCTGGGTCCTACCCCTTGGCCCCACCCAGGTCCCCTCTGCACCCACGGGCTCTGACAGCCCCCCTGCCTCTCTCTTCACAGTCCATGGCATCAAGTGGACCTGCAGCAATGGGAACAGCAGCTCAGGCTTCTCGGTGGAACAGCTGGTGCAGCAGATCCTCGACAGCCACCAGACCAAGCCCCAGCCGCGGACCCACAACTGCCTCTGCACCGGCAGCCTGGGTGAGCCGGGGCTCCCGGGGCAGGCGGGCGCCACGGGGACAGAGGGGCCCTACCAGGCAGCCGTCATGGCTGTCCTCTGTGGGAGTAGCCATGACATCTAGTGAGGGAGGAGGGGGACAGTCAGGGACTGGGCGACACCACCGCACCCAGCACAGACACAAGGCAGGCCTTCCGCCTCGTCCTGCCCTGCAACTGGCTGGCAGTCCGCTCTGGGCAGGAGGGAGCAGTGTCCAGAGGGACAGCTTCCTCCGTGGGGCAAGAACTGGGGGCAGCAGAGTTGGGGAAGCGAGGAGCTCTGGGGCTCGGGGCCTCTCTGTTCAGGCCCACACTCTTGGGCATCCTCTGCCAGAGGGCACTGGGGTCTTGAGGGAGACGTGCCCTGCGTCAGTGACACCACGCAGGCGCAACCTCTTTCTTTAACCTCTGTCTCCTCCAAGAACATGAAGCGTCCCGCGCTCTCCTTCCTAATGTGTCTGTTTTTCTGATAATGGTATTTGCTCTTTGAAATGTGTGTTCTCCACTCCCCAGGCTGACTTAATTAGATAGTCCCATTAGAGGGTCGTGTCACTTCTCTACGCAGTCTTGGTGCATTGAGGAGTCTTGGTGGTGAGGCCATAACAGGATCAGGGAGAATTTGCCCTTTCATCAAAAGTAAAGTGACCCTTATCAGATGAAATGAAAATGGTGAAAATATCCAATGGGAGGGAGAGAAAAGCCGTCCTGGCTGCCGGGGCTGGAGGAGCTGCCAGGGAGGCTTTGCCAAGCTCAGAAACGTTCGGCTCCTGAGGCTTGTACGTCTGAAATGAGGAGCAAGGGCTCTGTCCCTACTTAGGACCTAGAAGGATTTTTGTACCCCAGAGAGCTGAGGGTAGGCCTGGGCTTAGGTACCTTTCCGCCTCTGGAGCAGGGTCGAGAACCCTCTTTGGTCCTGGGGCCTGAGAGCTGGTCCCGAGACTGCATTTCCATCACCTCCCCATTGACCTCTGGTTGCCAGGCCCCAGGGGTGGCTCCTCACTGGGGCATGGCCTGAGCAGCTGTGGGAAGTTGGGGAGGGGAGGTGGGGCAGGATACGAACGTAGCCACTCTCACCAGGCTGATCCCCTCTTGCCAGCAAAAGCCCTTCCAGATGAGTGGTATCTGTCTCTGATGGCGGAGGGGACTTTCCTGGGTGTTGACATTCTCTCCACCTTCTCCTTCCCAACTTCCCATATGCTTCCTATTTGAAAAGAGCATCAAGGCCAAAGCCCCTCTGATCTTTGGAGGAGGGTCAAAGGGGCGTGGGACGGCCCCCGGGCTTGGGGTACGTGTCCAAGGGCTGAGAGTCTGTGGCCTGCCTGGGGTACCGGGCCTGGACTTTGCCAGGGACCCCAGCCGCTGTGGGGCAGGTCCACCACGGTCCTAGCTCTGACTCTCTTTTGTGTGTGCATGTGTGTGTGCACATGTGTGCCTGCGTGTGCGTGCGCGTGTTGTGTTCCGATCTCCGCAGGAGCTGGCGGCAGCGTGCATCACAAGTGTAACAGCGCCAAACACCGCATCATCTCGCCCAAGGTGGAGCCACGGACAGGGGGGTACGGGAGCCACTCGGAGGTGCAGCACAATGACGTGTCGGAGGGCAAGCACGAGCACAGCCACAGCAAGGGCTCCAGCCGTGAGAAGAGGAACGGCAAGGTGGCCAAGCCCGTGCTCCTGCACCAGAGCAGCACCGAGGTCTCCTCCACCAACCAGGTGGAAGTCCCCGACACCACCCAGAGCTCCCCTGTGTCCATCAGCAGCGGGCTCAACAGCGACCCGGACATGGTGGACAGCCCGGTGGTCACAGGTGTGTCCGGTATGGCGGTGGCCTCTGTGATGGGGAGCTTGTCCCAGAGCGCCACGGTGTTCATGTCAGAGGTCACCAATGAGGCCGTGTACACCATGTCCCCCACCGCTGGCCCCAACCACCACCTCCTCTCACCTGACGCCTCTCAGGGCCTCGTCCTGGCCGTGAGCTCTGATGGCCACAAGTTCGCCTTTCCCACCACGGGCAGCTCGGAGAGCCTGTCCATGCTGCCCACCAACGTGTCCGAAGAGCTGGTCCTCTCCACCACCCTCGACGGTGGCCGGAAGATTCCAGAAACCACCATGAACTTTGACCCCGACTGTTTCCTTAATAACCCAAAGCAGGGCCAGACGTACGGGGGTGGAGGCCTGAAAGCCGAGATGGTCAGCTCCAACATCCGGCACTCGCCACCCGGGGAGCGGAGCTTCAGCTTTACCACCGTCCTCACCAAGGAGATCAAGACCGAGGACACCTCCTTCGAGCAGCAGATGGCCAAAGAAGCGTACTCCTCCTCCGCGGCGGCTGTGGCAGCCAGCTCCCTCACCCTGACCGCCGGCTCCAGCCTCCTGCCGTCGGGCGGCGGCCTGAGTCCCAGCACCACCCTGGAGCAGATGGACTTCAGCGCCATCGACTCCAACAAGGACTACACGTCCAGCTTCAGCCAGACGGGCCACAGCCCCCACATCCACCAGACCCCCTCCCCGAGCTTCTTCCTGCAGGACGCCAGCAAACCCCTCCCCGTCGAGCAGAACACCCACAGCAGCCTGAGTGACTCTGGGGGCACCTTCGTGATGCCCACGGTGAAAACGGAGGCCTCGTCCCAAACCAGCTCCTGCAGCGGTCACGTGGAGACGCGGATCGAGTCCACTTCCTCCCTCCACCTCATGCAGTTCCAGGCCAACTTCCAGGCCATGACGGCAGAAGGGGAGGTCACCATGGAGACCTCGCAGGCGGCGGAAGGGAGCGAGGTCCTGCTCAAGTCTGGGGAGCTGCAGGCTTGCAGCTCTGAGCACTACCTGCAGCCGGAGACCAACGGGGTAATCCGAAGCGCCGGCGGCGTCCCCATCCTCCCGGGCAACGTGGTGCAGGGACTCTACCCCGTGGCCCAGCCCAGCCTCGGCAACGCCTCCAACATGGAGCTCAGCCTGGACCACTTTGACATCTCCTTCAGCAACCAGTTCTCCGACCTGATCAACGACTTCATCTCCGTGGAGGGGGGCAGCAGCACCATCTATGGGCACCAGCTGGTGTCGGGGGACAGCACGGCGCTCTCACAGTCAGAGGACGGGGCGCGGGCCCCCTTCACCCAGGCAGAGATGTGCCTCCCCTGCTGTAGCCCCCAGCAGGGTAGCCTGCAGCTGAGCAGCTCGGAGGGCGGGGCCAGCACCATGGCCTACATGCACGTCGCCGAGGTGGTCTCGGCCGCCTCGGCCCAGGGCACCCTAGGCATGCTGCAGCAGAGCGGACGGGTGTTCATGGTGACCGACTACTCCCCAGAGTGGTCTTACCCAGAGGTAAGCTGCCGCCGCTGCCACCACCTGTCACCTCCCCTCCCACCCACCTCGCCAGCCCCTGCGCCACCCTGCAGCTAAGGGATGCCTGTGGCTGCCCTTCAGAGGAAGCTCTGGACCACAAAGATGATGCTTTCCCCTCCTTGTGTCCCCACGGCGCTTGAACACCTCCGTCTTTCACGCAGTGGTTCTCAAAC	TGGTCCACCACCTCTATCCTGAGTCTCCACAAGAAGCTCACAGGCTGGGAAGTCCCTCAGCCTCCTGTCCACTCTCCTTCTGTCCTTGTTCCCTTTCTCTTCCATTCCAGCACCCCTGGAAGAGCCGCCTCGTGCACTCTGACTTTAGGGAAACAAAAGCAGAACTCTATGCGGTCCACTCCCTGGGCTGCACCATAGTGAGGGGGAGCTAAAGAGCTCAGAACCCCCGATGGGAGCAGGGGGTCTGGCGGGGGCAGCCTGGCCTCCCTTCCCCTCCTCCTCCCCTACTCATCAATTCGCCCCAGGAGCCAGCTCCCCAGCAGTGAGAGGGCTGCCCTCAGGGAGGGCCTGGGTCCTACCCCTTGGCCCCACCCAGGTCCCCTCTGCACCCACGGGCTCTGACAGCCCCCCTGCCTCTCTCTTCACAGTCCATGGCATCAAGTGGACCTGCAGCAATGGGAACAGCAGCTCAGGCTTCTCGGTGGAACAGCTGGTGCAGCAGATCCTCGACAGCCACCAGACCAAGCCCCAGCCGCGGACCCACAACTGCCTCTGCACCGGCAGCCTGGGTGAGCCGGGGCTCCCGGGGCAGGCGGGCGCCACGGGGACAGAGGGGCCCTACCAGGCAGCCGTCATGGCTGTCCTCTGTGGGAGTAGCCATGACATCTAGTGAGGGAGGAGGGGGACAGTCAGGGACTGGGCGACACCACCGCACCCAGCACAGACACAAGGCAGGCCTTCCGCCTCGTCCTGCCCTGCAACTGGCTGGCAGTCCGCTCTGGGCAGGAGGGAGCAGTGTCCAGAGGGACAGCTTCCTCCGTGGGGCAAGAACTGGGGGCAGCAGAGTTGGGGAAGCGAGGAGCTCTGGGGCTCGGGGCCTCTCTGTTCAGGCCCACACTCTTGGGCATCCTCTGCCAGAGGGCACTGGGGTCTTGAGGGAGACGTGCCCTGCGTCAGTGACACCACGCAGGCGCAACCTCTTTCTTTAACCTCTGTCTCCTCCAAGAACATGAAGCGTCCCGCGCTCTCCTTCCTAATGTGTCTGTTTTTCTGATAATGGTATTTGCTCTTTGAAATGTGTGTTCTCCACTCCCCAGGCTGACTTAATTAGATAGTCCCATTAGAGGGTCGTGTCACTTCTCTACGCAGTCTTGGTGCATTGAGGAGTCTTGGTGGTGAGGCCATAACAGGATCAGGGAGAATTTGCCCTTTCATCAAAAGTAAAGTGACCCTTATCAGATGAAATGAAAATGGTGAAAATATCCAATGGGAGGGAGAGAAAAGCCGTCCTGGCTGCCGGGGCTGGAGGAGCTGCCAGGGAGGCTTTGCCAAGCTCAGAAACGTTCGGCTCCTGAGGCTTGTACGTCTGAAATGAGGAGCAAGGGCTCTGTCCCTACTTAGGACCTAGAAGGATTTTTGTACCCCAGAGAGCTGAGGGTAGGCCTGGGCTTAGGTACCTTTCCGCCTCTGGAGCAGGGTCGAGAACCCTCTTTGGTCCTGGGGCCTGAGAGCTGGTCCCGAGACTGCATTTCCATCACCTCCCCATTGACCTCTGGTTGCCAGGCCCCAGGGGTGGCTCCTCACTGGGGCATGGCCTGAGCAGCTGTGGGAAGTTGGGGAGGGGAGGTGGGGCAGGATACGAACGTAGCCACTCTCACCAGGCTGATCCCCTCTTGCCAGCAAAAGCCCTTCCAGATGAGTGGTATCTGTCTCTGATGGCGGAGGGGACTTTCCTGGGTGTTGACATTCTCTCCACCTTCTCCTTCCCAACTTCCCATATGCTTCCTATTTGAAAAGAGCATCAAGGCCAAAGCCCCTCTGATCTTTGGAGGAGGGTCAAAGGGGCGTGGGACGGCCCCCGGGCTTGGGGTACGTGTCCAAGGGCTGAGAGTCTGTGGCCTGCCTGGGGTACCGGGCCTGGACTTTGCCAGGGACCCCAGCCGCTGTGGGGCAGGTCCACCACGGTCCTAGCTCTGACTCTCTTTTGTGTGTGCATGTGTGTGTGCACATGTGTGCCTGCGTGTGCGTGCGCGTGTTGTGTTCCGATCTCGCAGGAGCTGGCGGCAGCGTGCATCACAAGTGTAACAGCGCCAAACACCGCATCATCTCGCCCAAGGTGGAGCCACGGACAGGGGGGTACGGGAGCCACTCGGAGGTGCAGCACAATGACGTGTCGGAGGGCAAGCACGAGCACAGCCACAGCAAGGGCTCCAGCCGTGAGAAGAGGAACGGCAAGGTGGCCAAGCCCGTGCTCCTGCACCAGAGCAGCACCGAGGTCTCCTCCACCAACCAGGTGGAAGTCCCCGACACCACCCAGAGCTCCCCTGTGTCCATCAGCAGCGGGCTCAACAGCGACCCGGACATGGTGGACAGCCCGGTGGTCACAGGTGTGTCCGGTATGGCGGTGGCCTCTGTGATGGGGAGCTTGTCCCAGAGCGCCACGGTGTTCATGTCAGAGGTCACCAATGAGGCCGTGTACACCATGTCCCCCACCGCTGGCCCCAACCACCACCTCCTCTCACCTGACGCCTCTCAGGGCCTCGTCCTGGCCGTGAGCTCTGATGGCCACAAGTTCGCCTTTCCCACCACGGGCAGCTCGGAGAGCCTGTCCATGCTGCCCACCAACGTGTCCGAAGAGCTGGTCCTCTCCACCACCCTCGACGGTGGCCGGAAGATTCCAGAAACCACCATGAACTTTGACCCCGACTGTTTCCTTAATAACCCAAAGCAGGGCCAGACGTACGGGGGTGGAGGCCTGAAAGCCGAGATGGTCAGCTCCAACATCCGGCACTCGCCACCCGGGGAGCGGAGCTTCAGCTTTACCACCGTCCTCACCAAGGAGATCAAGACCGAGGACACCTCCTTCGAGCAGCAGATGGCCAAAGAAGCGTACTCCTCCTCCGCGGCGGCTGTGGCAGCCAGCTCCCTCACCCTGACCGCCGGCTCCAGCCTCCTGCCGTCGGGCGGCGGCCTGAGTCCCAGCACCACCCTGGAGCAGATGGACTTCAGCGCCATCGACTCCAACAAGGACTACACGTCCAGCTTCAGCCAGACGGGCCACAGCCCCCACATCCACCAGACCCCCTCCCCGAGCTTCTTCCTGCAGGACGCCAGCAAACCCCTCCCCGTCGAGCAGAACACCCACAGCAGCCTGAGTGACTCTGGGGGCACCTTCGTGATGCCCACGGTGAAAACGGAGGCCTCGTCCCAAACCAGCTCCTGCAGCGGTCACGTGGAGACGCGGATCGAGTCCACTTCCTCCCTCCACCTCATGCAGTTCCAGGCCAACTTCCAGGCCATGACGGCAGAAGGGGAGGTCACCATGGAGACCTCGCAGGCGGCGGAAGGGAGCGAGGTCCTGCTCAAGTCTGGGGAGCTGCAGGCTTGCAGCTCTGAGCACTACCTGCAGCCGGAGACCAACGGGGTAATCCGAAGCGCCGGCGGCGTCCCCATCCTCCCGGGCAACGTGGTGCAGGGACTCTACCCCGTGGCCCAGCCCAGCCTCGGCAACGCCTCCAACATGGAGCTCAGCCTGGACCACTTTGACATCTCCTTCAGCAACCAGTTCTCCGACCTGATCAACGACTTCATCTCCGTGGAGGGGGGCAGCAGCACCATCTATGGGCACCAGCTGGTGTCGGGGGACAGCACGGCGCTCTCACAGTCAGAGGACGGGGCGCGGGCCCCCTTCACCCAGGCAGAGATGTGCCTCCCCTGCTGTAGCCCCCAGCAGGGTAGCCTGCAGCTGAGCAGCTCGGAGGGCGGGGCCAGCACCATGGCCTACATGCACGTCGCCGAGGTGGTCTCGGCCGCCTCGGCCCAGGGCACCCTAGGCATGCTGCAGCAGAGCGGACGGGTGTTCATGGTGACCGACTACTCCCCAGAGTGGTCTTACCCAGAGGTAAGCTGCCGCCGCTGCCACCACCTGTCACCTCCCCTCCCACCCACCTCGCCAGCCCCTGCGCCACCCTGCAGCTAAGGGATGCCTGTGGCTGCCCTTCAGAGGAAGCTCTGGACCACAAAGATGATGCTTTCCCCTCCTTGTGTCCCCACGGCGCTTGAACACCTCCGTCTTTCACGCAGTGGTTCTCAAACN	benign	1,624
Assess the variant on chromosome 1, position 7663384, impacting CAMTA1 (calmodulin binding transcription activator 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['Cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities']	CACAGGCTGGGAAGTCCCTCAGCCTCCTGTCCACTCTCCTTCTGTCCTTGTTCCCTTTCTCTTCCATTCCAGCACCCCTGGAAGAGCCGCCTCGTGCACTCTGACTTTAGGGAAACAAAAGCAGAACTCTATGCGGTCCACTCCCTGGGCTGCACCATAGTGAGGGGGAGCTAAAGAGCTCAGAACCCCCGATGGGAGCAGGGGGTCTGGCGGGGGCAGCCTGGCCTCCCTTCCCCTCCTCCTCCCCTACTCATCAATTCGCCCCAGGAGCCAGCTCCCCAGCAGTGAGAGGGCTGCCCTCAGGGAGGGCCTGGGTCCTACCCCTTGGCCCCACCCAGGTCCCCTCTGCACCCACGGGCTCTGACAGCCCCCCTGCCTCTCTCTTCACAGTCCATGGCATCAAGTGGACCTGCAGCAATGGGAACAGCAGCTCAGGCTTCTCGGTGGAACAGCTGGTGCAGCAGATCCTCGACAGCCACCAGACCAAGCCCCAGCCGCGGACCCACAACTGCCTCTGCACCGGCAGCCTGGGTGAGCCGGGGCTCCCGGGGCAGGCGGGCGCCACGGGGACAGAGGGGCCCTACCAGGCAGCCGTCATGGCTGTCCTCTGTGGGAGTAGCCATGACATCTAGTGAGGGAGGAGGGGGACAGTCAGGGACTGGGCGACACCACCGCACCCAGCACAGACACAAGGCAGGCCTTCCGCCTCGTCCTGCCCTGCAACTGGCTGGCAGTCCGCTCTGGGCAGGAGGGAGCAGTGTCCAGAGGGACAGCTTCCTCCGTGGGGCAAGAACTGGGGGCAGCAGAGTTGGGGAAGCGAGGAGCTCTGGGGCTCGGGGCCTCTCTGTTCAGGCCCACACTCTTGGGCATCCTCTGCCAGAGGGCACTGGGGTCTTGAGGGAGACGTGCCCTGCGTCAGTGACACCACGCAGGCGCAACCTCTTTCTTTAACCTCTGTCTCCTCCAAGAACATGAAGCGTCCCGCGCTCTCCTTCCTAATGTGTCTGTTTTTCTGATAATGGTATTTGCTCTTTGAAATGTGTGTTCTCCACTCCCCAGGCTGACTTAATTAGATAGTCCCATTAGAGGGTCGTGTCACTTCTCTACGCAGTCTTGGTGCATTGAGGAGTCTTGGTGGTGAGGCCATAACAGGATCAGGGAGAATTTGCCCTTTCATCAAAAGTAAAGTGACCCTTATCAGATGAAATGAAAATGGTGAAAATATCCAATGGGAGGGAGAGAAAAGCCGTCCTGGCTGCCGGGGCTGGAGGAGCTGCCAGGGAGGCTTTGCCAAGCTCAGAAACGTTCGGCTCCTGAGGCTTGTACGTCTGAAATGAGGAGCAAGGGCTCTGTCCCTACTTAGGACCTAGAAGGATTTTTGTACCCCAGAGAGCTGAGGGTAGGCCTGGGCTTAGGTACCTTTCCGCCTCTGGAGCAGGGTCGAGAACCCTCTTTGGTCCTGGGGCCTGAGAGCTGGTCCCGAGACTGCATTTCCATCACCTCCCCATTGACCTCTGGTTGCCAGGCCCCAGGGGTGGCTCCTCACTGGGGCATGGCCTGAGCAGCTGTGGGAAGTTGGGGAGGGGAGGTGGGGCAGGATACGAACGTAGCCACTCTCACCAGGCTGATCCCCTCTTGCCAGCAAAAGCCCTTCCAGATGAGTGGTATCTGTCTCTGATGGCGGAGGGGACTTTCCTGGGTGTTGACATTCTCTCCACCTTCTCCTTCCCAACTTCCCATATGCTTCCTATTTGAAAAGAGCATCAAGGCCAAAGCCCCTCTGATCTTTGGAGGAGGGTCAAAGGGGCGTGGGACGGCCCCCGGGCTTGGGGTACGTGTCCAAGGGCTGAGAGTCTGTGGCCTGCCTGGGGTACCGGGCCTGGACTTTGCCAGGGACCCCAGCCGCTGTGGGGCAGGTCCACCACGGTCCTAGCTCTGACTCTCTTTTGTGTGTGCATGTGTGTGTGCACATGTGTGCCTGCGTGTGCGTGCGCGTGTTGTGTTCCGATCTCCGCAGGAGCTGGCGGCAGCGTGCATCACAAGTGTAACAGCGCCAAACACCGCATCATCTCGCCCAAGGTGGAGCCACGGACAGGGGGGTACGGGAGCCACTCGGAGGTGCAGCACAATGACGTGTCGGAGGGCAAGCACGAGCACAGCCACAGCAAGGGCTCCAGCCGTGAGAAGAGGAACGGCAAGGTGGCCAAGCCCGTGCTCCTGCACCAGAGCAGCACCGAGGTCTCCTCCACCAACCAGGTGGAAGTCCCCGACACCACCCAGAGCTCCCCTGTGTCCATCAGCAGCGGGCTCAACAGCGACCCGGACATGGTGGACAGCCCGGTGGTCACAGGTGTGTCCGGTATGGCGGTGGCCTCTGTGATGGGGAGCTTGTCCCAGAGCGCCACGGTGTTCATGTCAGAGGTCACCAATGAGGCCGTGTACACCATGTCCCCCACCGCTGGCCCCAACCACCACCTCCTCTCACCTGACGCCTCTCAGGGCCTCGTCCTGGCCGTGAGCTCTGATGGCCACAAGTTCGCCTTTCCCACCACGGGCAGCTCGGAGAGCCTGTCCATGCTGCCCACCAACGTGTCCGAAGAGCTGGTCCTCTCCACCACCCTCGACGGTGGCCGGAAGATTCCAGAAACCACCATGAACTTTGACCCCGACTGTTTCCTTAATAACCCAAAGCAGGGCCAGACGTACGGGGGTGGAGGCCTGAAAGCCGAGATGGTCAGCTCCAACATCCGGCACTCGCCACCCGGGGAGCGGAGCTTCAGCTTTACCACCGTCCTCACCAAGGAGATCAAGACCGAGGACACCTCCTTCGAGCAGCAGATGGCCAAAGAAGCGTACTCCTCCTCCGCGGCGGCTGTGGCAGCCAGCTCCCTCACCCTGACCGCCGGCTCCAGCCTCCTGCCGTCGGGCGGCGGCCTGAGTCCCAGCACCACCCTGGAGCAGATGGACTTCAGCGCCATCGACTCCAACAAGGACTACACGTCCAGCTTCAGCCAGACGGGCCACAGCCCCCACATCCACCAGACCCCCTCCCCGAGCTTCTTCCTGCAGGACGCCAGCAAACCCCTCCCCGTCGAGCAGAACACCCACAGCAGCCTGAGTGACTCTGGGGGCACCTTCGTGATGCCCACGGTGAAAACGGAGGCCTCGTCCCAAACCAGCTCCTGCAGCGGTCACGTGGAGACGCGGATCGAGTCCACTTCCTCCCTCCACCTCATGCAGTTCCAGGCCAACTTCCAGGCCATGACGGCAGAAGGGGAGGTCACCATGGAGACCTCGCAGGCGGCGGAAGGGAGCGAGGTCCTGCTCAAGTCTGGGGAGCTGCAGGCTTGCAGCTCTGAGCACTACCTGCAGCCGGAGACCAACGGGGTAATCCGAAGCGCCGGCGGCGTCCCCATCCTCCCGGGCAACGTGGTGCAGGGACTCTACCCCGTGGCCCAGCCCAGCCTCGGCAACGCCTCCAACATGGAGCTCAGCCTGGACCACTTTGACATCTCCTTCAGCAACCAGTTCTCCGACCTGATCAACGACTTCATCTCCGTGGAGGGGGGCAGCAGCACCATCTATGGGCACCAGCTGGTGTCGGGGGACAGCACGGCGCTCTCACAGTCAGAGGACGGGGCGCGGGCCCCCTTCACCCAGGCAGAGATGTGCCTCCCCTGCTGTAGCCCCCAGCAGGGTAGCCTGCAGCTGAGCAGCTCGGAGGGCGGGGCCAGCACCATGGCCTACATGCACGTCGCCGAGGTGGTCTCGGCCGCCTCGGCCCAGGGCACCCTAGGCATGCTGCAGCAGAGCGGACGGGTGTTCATGGTGACCGACTACTCCCCAGAGTGGTCTTACCCAGAGGTAAGCTGCCGCCGCTGCCACCACCTGTCACCTCCCCTCCCACCCACCTCGCCAGCCCCTGCGCCACCCTGCAGCTAAGGGATGCCTGTGGCTGCCCTTCAGAGGAAGCTCTGGACCACAAAGATGATGCTTTCCCCTCCTTGTGTCCCCACGGCGCTTGAACACCTCCGTCTTTCACGCAGTGGTTCTCAAACTTCACTGGGGCAAGTAGCTTTAAAGTCAGGGGGTCTTT	CACAGGCTGGGAAGTCCCTCAGCCTCCTGTCCACTCTCCTTCTGTCCTTGTTCCCTTTCTCTTCCATTCCAGCACCCCTGGAAGAGCCGCCTCGTGCACTCTGACTTTAGGGAAACAAAAGCAGAACTCTATGCGGTCCACTCCCTGGGCTGCACCATAGTGAGGGGGAGCTAAAGAGCTCAGAACCCCCGATGGGAGCAGGGGGTCTGGCGGGGGCAGCCTGGCCTCCCTTCCCCTCCTCCTCCCCTACTCATCAATTCGCCCCAGGAGCCAGCTCCCCAGCAGTGAGAGGGCTGCCCTCAGGGAGGGCCTGGGTCCTACCCCTTGGCCCCACCCAGGTCCCCTCTGCACCCACGGGCTCTGACAGCCCCCCTGCCTCTCTCTTCACAGTCCATGGCATCAAGTGGACCTGCAGCAATGGGAACAGCAGCTCAGGCTTCTCGGTGGAACAGCTGGTGCAGCAGATCCTCGACAGCCACCAGACCAAGCCCCAGCCGCGGACCCACAACTGCCTCTGCACCGGCAGCCTGGGTGAGCCGGGGCTCCCGGGGCAGGCGGGCGCCACGGGGACAGAGGGGCCCTACCAGGCAGCCGTCATGGCTGTCCTCTGTGGGAGTAGCCATGACATCTAGTGAGGGAGGAGGGGGACAGTCAGGGACTGGGCGACACCACCGCACCCAGCACAGACACAAGGCAGGCCTTCCGCCTCGTCCTGCCCTGCAACTGGCTGGCAGTCCGCTCTGGGCAGGAGGGAGCAGTGTCCAGAGGGACAGCTTCCTCCGTGGGGCAAGAACTGGGGGCAGCAGAGTTGGGGAAGCGAGGAGCTCTGGGGCTCGGGGCCTCTCTGTTCAGGCCCACACTCTTGGGCATCCTCTGCCAGAGGGCACTGGGGTCTTGAGGGAGACGTGCCCTGCGTCAGTGACACCACGCAGGCGCAACCTCTTTCTTTAACCTCTGTCTCCTCCAAGAACATGAAGCGTCCCGCGCTCTCCTTCCTAATGTGTCTGTTTTTCTGATAATGGTATTTGCTCTTTGAAATGTGTGTTCTCCACTCCCCAGGCTGACTTAATTAGATAGTCCCATTAGAGGGTCGTGTCACTTCTCTACGCAGTCTTGGTGCATTGAGGAGTCTTGGTGGTGAGGCCATAACAGGATCAGGGAGAATTTGCCCTTTCATCAAAAGTAAAGTGACCCTTATCAGATGAAATGAAAATGGTGAAAATATCCAATGGGAGGGAGAGAAAAGCCGTCCTGGCTGCCGGGGCTGGAGGAGCTGCCAGGGAGGCTTTGCCAAGCTCAGAAACGTTCGGCTCCTGAGGCTTGTACGTCTGAAATGAGGAGCAAGGGCTCTGTCCCTACTTAGGACCTAGAAGGATTTTTGTACCCCAGAGAGCTGAGGGTAGGCCTGGGCTTAGGTACCTTTCCGCCTCTGGAGCAGGGTCGAGAACCCTCTTTGGTCCTGGGGCCTGAGAGCTGGTCCCGAGACTGCATTTCCATCACCTCCCCATTGACCTCTGGTTGCCAGGCCCCAGGGGTGGCTCCTCACTGGGGCATGGCCTGAGCAGCTGTGGGAAGTTGGGGAGGGGAGGTGGGGCAGGATACGAACGTAGCCACTCTCACCAGGCTGATCCCCTCTTGCCAGCAAAAGCCCTTCCAGATGAGTGGTATCTGTCTCTGATGGCGGAGGGGACTTTCCTGGGTGTTGACATTCTCTCCACCTTCTCCTTCCCAACTTCCCATATGCTTCCTATTTGAAAAGAGCATCAAGGCCAAAGCCCCTCTGATCTTTGGAGGAGGGTCAAAGGGGCGTGGGACGGCCCCCGGGCTTGGGGTACGTGTCCAAGGGCTGAGAGTCTGTGGCCTGCCTGGGGTACCGGGCCTGGACTTTGCCAGGGACCCCAGCCGCTGTGGGGCAGGTCCACCACGGTCCTAGCTCTGACTCTCTTTTGTGTGTGCATGTGTGTGTGCACATGTGTGCCTGCGTGTGCGTGCGCGTGTTGTGTTCCGATCTCCGCAGGAGCTGGCGGCAGCGTGCATCACAAGTGTAACGCGCCAAACACCGCATCATCTCGCCCAAGGTGGAGCCACGGACAGGGGGGTACGGGAGCCACTCGGAGGTGCAGCACAATGACGTGTCGGAGGGCAAGCACGAGCACAGCCACAGCAAGGGCTCCAGCCGTGAGAAGAGGAACGGCAAGGTGGCCAAGCCCGTGCTCCTGCACCAGAGCAGCACCGAGGTCTCCTCCACCAACCAGGTGGAAGTCCCCGACACCACCCAGAGCTCCCCTGTGTCCATCAGCAGCGGGCTCAACAGCGACCCGGACATGGTGGACAGCCCGGTGGTCACAGGTGTGTCCGGTATGGCGGTGGCCTCTGTGATGGGGAGCTTGTCCCAGAGCGCCACGGTGTTCATGTCAGAGGTCACCAATGAGGCCGTGTACACCATGTCCCCCACCGCTGGCCCCAACCACCACCTCCTCTCACCTGACGCCTCTCAGGGCCTCGTCCTGGCCGTGAGCTCTGATGGCCACAAGTTCGCCTTTCCCACCACGGGCAGCTCGGAGAGCCTGTCCATGCTGCCCACCAACGTGTCCGAAGAGCTGGTCCTCTCCACCACCCTCGACGGTGGCCGGAAGATTCCAGAAACCACCATGAACTTTGACCCCGACTGTTTCCTTAATAACCCAAAGCAGGGCCAGACGTACGGGGGTGGAGGCCTGAAAGCCGAGATGGTCAGCTCCAACATCCGGCACTCGCCACCCGGGGAGCGGAGCTTCAGCTTTACCACCGTCCTCACCAAGGAGATCAAGACCGAGGACACCTCCTTCGAGCAGCAGATGGCCAAAGAAGCGTACTCCTCCTCCGCGGCGGCTGTGGCAGCCAGCTCCCTCACCCTGACCGCCGGCTCCAGCCTCCTGCCGTCGGGCGGCGGCCTGAGTCCCAGCACCACCCTGGAGCAGATGGACTTCAGCGCCATCGACTCCAACAAGGACTACACGTCCAGCTTCAGCCAGACGGGCCACAGCCCCCACATCCACCAGACCCCCTCCCCGAGCTTCTTCCTGCAGGACGCCAGCAAACCCCTCCCCGTCGAGCAGAACACCCACAGCAGCCTGAGTGACTCTGGGGGCACCTTCGTGATGCCCACGGTGAAAACGGAGGCCTCGTCCCAAACCAGCTCCTGCAGCGGTCACGTGGAGACGCGGATCGAGTCCACTTCCTCCCTCCACCTCATGCAGTTCCAGGCCAACTTCCAGGCCATGACGGCAGAAGGGGAGGTCACCATGGAGACCTCGCAGGCGGCGGAAGGGAGCGAGGTCCTGCTCAAGTCTGGGGAGCTGCAGGCTTGCAGCTCTGAGCACTACCTGCAGCCGGAGACCAACGGGGTAATCCGAAGCGCCGGCGGCGTCCCCATCCTCCCGGGCAACGTGGTGCAGGGACTCTACCCCGTGGCCCAGCCCAGCCTCGGCAACGCCTCCAACATGGAGCTCAGCCTGGACCACTTTGACATCTCCTTCAGCAACCAGTTCTCCGACCTGATCAACGACTTCATCTCCGTGGAGGGGGGCAGCAGCACCATCTATGGGCACCAGCTGGTGTCGGGGGACAGCACGGCGCTCTCACAGTCAGAGGACGGGGCGCGGGCCCCCTTCACCCAGGCAGAGATGTGCCTCCCCTGCTGTAGCCCCCAGCAGGGTAGCCTGCAGCTGAGCAGCTCGGAGGGCGGGGCCAGCACCATGGCCTACATGCACGTCGCCGAGGTGGTCTCGGCCGCCTCGGCCCAGGGCACCCTAGGCATGCTGCAGCAGAGCGGACGGGTGTTCATGGTGACCGACTACTCCCCAGAGTGGTCTTACCCAGAGGTAAGCTGCCGCCGCTGCCACCACCTGTCACCTCCCCTCCCACCCACCTCGCCAGCCCCTGCGCCACCCTGCAGCTAAGGGATGCCTGTGGCTGCCCTTCAGAGGAAGCTCTGGACCACAAAGATGATGCTTTCCCCTCCTTGTGTCCCCACGGCGCTTGAACACCTCCGTCTTTCACGCAGTGGTTCTCAAACTTCACTGGGGCAAGTAGCTTTAAAGTCAGGGGGTCTTTN	pathogenic	1,625
Clinically, how would you classify the variant at chromosome 1, position 7664959, gene CAMTA1 (calmodulin binding transcription activator 1): benign or pathogenic? If pathogenic, specify the associated illness(es).	pathogenic; ['Cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities']	TTGGGGAGGGGAGGTGGGGCAGGATACGAACGTAGCCACTCTCACCAGGCTGATCCCCTCTTGCCAGCAAAAGCCCTTCCAGATGAGTGGTATCTGTCTCTGATGGCGGAGGGGACTTTCCTGGGTGTTGACATTCTCTCCACCTTCTCCTTCCCAACTTCCCATATGCTTCCTATTTGAAAAGAGCATCAAGGCCAAAGCCCCTCTGATCTTTGGAGGAGGGTCAAAGGGGCGTGGGACGGCCCCCGGGCTTGGGGTACGTGTCCAAGGGCTGAGAGTCTGTGGCCTGCCTGGGGTACCGGGCCTGGACTTTGCCAGGGACCCCAGCCGCTGTGGGGCAGGTCCACCACGGTCCTAGCTCTGACTCTCTTTTGTGTGTGCATGTGTGTGTGCACATGTGTGCCTGCGTGTGCGTGCGCGTGTTGTGTTCCGATCTCCGCAGGAGCTGGCGGCAGCGTGCATCACAAGTGTAACAGCGCCAAACACCGCATCATCTCGCCCAAGGTGGAGCCACGGACAGGGGGGTACGGGAGCCACTCGGAGGTGCAGCACAATGACGTGTCGGAGGGCAAGCACGAGCACAGCCACAGCAAGGGCTCCAGCCGTGAGAAGAGGAACGGCAAGGTGGCCAAGCCCGTGCTCCTGCACCAGAGCAGCACCGAGGTCTCCTCCACCAACCAGGTGGAAGTCCCCGACACCACCCAGAGCTCCCCTGTGTCCATCAGCAGCGGGCTCAACAGCGACCCGGACATGGTGGACAGCCCGGTGGTCACAGGTGTGTCCGGTATGGCGGTGGCCTCTGTGATGGGGAGCTTGTCCCAGAGCGCCACGGTGTTCATGTCAGAGGTCACCAATGAGGCCGTGTACACCATGTCCCCCACCGCTGGCCCCAACCACCACCTCCTCTCACCTGACGCCTCTCAGGGCCTCGTCCTGGCCGTGAGCTCTGATGGCCACAAGTTCGCCTTTCCCACCACGGGCAGCTCGGAGAGCCTGTCCATGCTGCCCACCAACGTGTCCGAAGAGCTGGTCCTCTCCACCACCCTCGACGGTGGCCGGAAGATTCCAGAAACCACCATGAACTTTGACCCCGACTGTTTCCTTAATAACCCAAAGCAGGGCCAGACGTACGGGGGTGGAGGCCTGAAAGCCGAGATGGTCAGCTCCAACATCCGGCACTCGCCACCCGGGGAGCGGAGCTTCAGCTTTACCACCGTCCTCACCAAGGAGATCAAGACCGAGGACACCTCCTTCGAGCAGCAGATGGCCAAAGAAGCGTACTCCTCCTCCGCGGCGGCTGTGGCAGCCAGCTCCCTCACCCTGACCGCCGGCTCCAGCCTCCTGCCGTCGGGCGGCGGCCTGAGTCCCAGCACCACCCTGGAGCAGATGGACTTCAGCGCCATCGACTCCAACAAGGACTACACGTCCAGCTTCAGCCAGACGGGCCACAGCCCCCACATCCACCAGACCCCCTCCCCGAGCTTCTTCCTGCAGGACGCCAGCAAACCCCTCCCCGTCGAGCAGAACACCCACAGCAGCCTGAGTGACTCTGGGGGCACCTTCGTGATGCCCACGGTGAAAACGGAGGCCTCGTCCCAAACCAGCTCCTGCAGCGGTCACGTGGAGACGCGGATCGAGTCCACTTCCTCCCTCCACCTCATGCAGTTCCAGGCCAACTTCCAGGCCATGACGGCAGAAGGGGAGGTCACCATGGAGACCTCGCAGGCGGCGGAAGGGAGCGAGGTCCTGCTCAAGTCTGGGGAGCTGCAGGCTTGCAGCTCTGAGCACTACCTGCAGCCGGAGACCAACGGGGTAATCCGAAGCGCCGGCGGCGTCCCCATCCTCCCGGGCAACGTGGTGCAGGGACTCTACCCCGTGGCCCAGCCCAGCCTCGGCAACGCCTCCAACATGGAGCTCAGCCTGGACCACTTTGACATCTCCTTCAGCAACCAGTTCTCCGACCTGATCAACGACTTCATCTCCGTGGAGGGGGGCAGCAGCACCATCTATGGGCACCAGCTGGTGTCGGGGGACAGCACGGCGCTCTCACAGTCAGAGGACGGGGCGCGGGCCCCCTTCACCCAGGCAGAGATGTGCCTCCCCTGCTGTAGCCCCCAGCAGGGTAGCCTGCAGCTGAGCAGCTCGGAGGGCGGGGCCAGCACCATGGCCTACATGCACGTCGCCGAGGTGGTCTCGGCCGCCTCGGCCCAGGGCACCCTAGGCATGCTGCAGCAGAGCGGACGGGTGTTCATGGTGACCGACTACTCCCCAGAGTGGTCTTACCCAGAGGTAAGCTGCCGCCGCTGCCACCACCTGTCACCTCCCCTCCCACCCACCTCGCCAGCCCCTGCGCCACCCTGCAGCTAAGGGATGCCTGTGGCTGCCCTTCAGAGGAAGCTCTGGACCACAAAGATGATGCTTTCCCCTCCTTGTGTCCCCACGGCGCTTGAACACCTCCGTCTTTCACGCAGTGGTTCTCAAACTTCACTGGGGCAAGTAGCTTTAAAGTCAGGGGGTCTTTGGCCGGGTGCCATGGCTCAAACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGAGGATCATCTGAGCCAAGGAGTTCCAAACCAACCTGGGCAACGTAGTGAGAACTGGTTTCAACAAAATATTAAAAAAATAAGCCAGGTGTGGTGGGGCCTGCCTATGGTCCCAGCTATTCTGGAGGCTGAGTCCGGAGGAGCACTTGAGCCCAAGAGGTTGAGGCTGCAGTGAGCTGTGGTTGTACCACTGCACTCCAGTCCGGATGACAGAGTGAAACCCTGTCTCAAAAAAAAAGAGAGAAAGTCAGGGTATCCTTGGAAGCAAAATGCTCCCCCAGCTCCAGCCAGAGTCGTCTGCCGTTTCTCAATTTATGTGTTGAGTCCATCTATGTTTTGCTTTGCTTTTTTTTTGAAAAGGGGTCCCAGGGTTGCTTAAAAAAATTCAAAAGTCACCATTGGCCGGGCTCAGTGGCTCATGCCCATAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACTGGGCGTAGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGTCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAGAATGAAACTGTCTTAAAAAAAAAAAAAAGAAAGAAAAAGTCACCATCATAGATCGTCTACATCCACTGCCTTCACCCTACTTCTCTAAGCCAAACAAAACCAAAAACCAAAAATCTCTCTCAAAACTGAACAGGGCACAGCTTCTGAAGAGTCATCCTGAAGATCCTTCTTAAGTAAACCTGGCCTTCTGCAAAATTCCACACAGGTCATAGGACGCAGGATTCCAACGTGCACCCTCCCCCAGCCCCCAGGCCGCCTCAGCTCCCGGGGATCTGACTTTGAGAACCACTACTCCAAAGACCAAAGCATCTTGCCTGAGGGACACAAGCAGTAGAGGAATCTCTGCTTTTTCTGTAGAGCAGAATAGCACAGGAAGGGGACAGAGTGGCCCAGGCTTTCCCTAAATAACCTAGTGCAGACAAGCACGTGCATCCTGACCTCTACCCAGCCCATCTGGGTGCTCAGGGACCAGCACATGCACCACGGGCCCTGATTGGACACTGCCTGGGAGGTGGCTGCCCACGGCCCACTCGGCTGGAGAACACCAAAGAAGGGGGCTCATACTTCCTCACCCTTCTTCCCCGCTGGCAAAGCTAAGAAAATCTGTGTACAGACACCCCCAGCTCTCCCATCCCCGATAGGAAGAGCCCGGAAGGATCAGACTGGGCTTCCTCTTGGTATAGGTTGGTGTGACCGTGTTTCTGACCCCCCTGCTGTTGTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTGAGAAGGAATTTCACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCA	TTGGGGAGGGGAGGTGGGGCAGGATACGAACGTAGCCACTCTCACCAGGCTGATCCCCTCTTGCCAGCAAAAGCCCTTCCAGATGAGTGGTATCTGTCTCTGATGGCGGAGGGGACTTTCCTGGGTGTTGACATTCTCTCCACCTTCTCCTTCCCAACTTCCCATATGCTTCCTATTTGAAAAGAGCATCAAGGCCAAAGCCCCTCTGATCTTTGGAGGAGGGTCAAAGGGGCGTGGGACGGCCCCCGGGCTTGGGGTACGTGTCCAAGGGCTGAGAGTCTGTGGCCTGCCTGGGGTACCGGGCCTGGACTTTGCCAGGGACCCCAGCCGCTGTGGGGCAGGTCCACCACGGTCCTAGCTCTGACTCTCTTTTGTGTGTGCATGTGTGTGTGCACATGTGTGCCTGCGTGTGCGTGCGCGTGTTGTGTTCCGATCTCCGCAGGAGCTGGCGGCAGCGTGCATCACAAGTGTAACAGCGCCAAACACCGCATCATCTCGCCCAAGGTGGAGCCACGGACAGGGGGGTACGGGAGCCACTCGGAGGTGCAGCACAATGACGTGTCGGAGGGCAAGCACGAGCACAGCCACAGCAAGGGCTCCAGCCGTGAGAAGAGGAACGGCAAGGTGGCCAAGCCCGTGCTCCTGCACCAGAGCAGCACCGAGGTCTCCTCCACCAACCAGGTGGAAGTCCCCGACACCACCCAGAGCTCCCCTGTGTCCATCAGCAGCGGGCTCAACAGCGACCCGGACATGGTGGACAGCCCGGTGGTCACAGGTGTGTCCGGTATGGCGGTGGCCTCTGTGATGGGGAGCTTGTCCCAGAGCGCCACGGTGTTCATGTCAGAGGTCACCAATGAGGCCGTGTACACCATGTCCCCCACCGCTGGCCCCAACCACCACCTCCTCTCACCTGACGCCTCTCAGGGCCTCGTCCTGGCCGTGAGCTCTGATGGCCACAAGTTCGCCTTTCCCACCACGGGCAGCTCGGAGAGCCTGTCCATGCTGCCCACCAACGTGTCCGAAGAGCTGGTCCTCTCCACCACCCTCGACGGTGGCCGGAAGATTCCAGAAACCACCATGAACTTTGACCCCGACTGTTTCCTTAATAACCCAAAGCAGGGCCAGACGTACGGGGGTGGAGGCCTGAAAGCCGAGATGGTCAGCTCCAACATCCGGCACTCGCCACCCGGGGAGCGGAGCTTCAGCTTTACCACCGTCCTCACCAAGGAGATCAAGACCGAGGACACCTCCTTCGAGCAGCAGATGGCCAAAGAAGCGTACTCCTCCTCCGCGGCGGCTGTGGCAGCCAGCTCCCTCACCCTGACCGCCGGCTCCAGCCTCCTGCCGTCGGGCGGCGGCCTGAGTCCCAGCACCACCCTGGAGCAGATGGACTTCAGCGCCATCGACTCCAACAAGGACTACACGTCCAGCTTCAGCCAGACGGGCCACAGCCCCCACATCCACCAGACCCCCTCCCCGAGCTTCTTCCTGCAGGACGCCAGCAAACCCCTCCCCGTCGAGCAGAACACCCACAGCAGCCTGAGTGACTCTGGGGGCACCTTCGTGATGCCCACGGTGAAAACGGAGGCCTCGTCCCAAACCAGCTCCTGCAGCGGTCACGTGGAGACGCGGATCGAGTCCACTTCCTCCCTCCACCTCATGCAGTTCCAGGCCAACTTCCAGGCCATGACGGCAGAAGGGGAGGTCACCATGGAGACCTCGCAGGCGGCGGAAGGGAGCGAGGTCCTGCTCAAGTCTGGGGAGCTGCAGGCTTGCAGCTCTGAGCACTACCTGCAGCCGGAGACCAACGGGGTAATCCGAAGCGCCGGCGGCGTCCCCATCCTCCCGGGCAACGTGGTGCAGGGACTCTACCCCGTGGCCCAGCCCAGCCTCGGCAACGCCTCCAACATGGAGCTCAGCCTGGACCACTTTGACATCTCCTTCAGCAACCAGTTCTCCGACCTGATCAACGACTTCATCTCCGTGGAGGGGGGCAGCAGCACCATCTATGGGCACCAGCTGGTGTCGGGGGACAGCACGGCGCTCTCACAGAGGACGGGGCGCGGGCCCCCTTCACCCAGGCAGAGATGTGCCTCCCCTGCTGTAGCCCCCAGCAGGGTAGCCTGCAGCTGAGCAGCTCGGAGGGCGGGGCCAGCACCATGGCCTACATGCACGTCGCCGAGGTGGTCTCGGCCGCCTCGGCCCAGGGCACCCTAGGCATGCTGCAGCAGAGCGGACGGGTGTTCATGGTGACCGACTACTCCCCAGAGTGGTCTTACCCAGAGGTAAGCTGCCGCCGCTGCCACCACCTGTCACCTCCCCTCCCACCCACCTCGCCAGCCCCTGCGCCACCCTGCAGCTAAGGGATGCCTGTGGCTGCCCTTCAGAGGAAGCTCTGGACCACAAAGATGATGCTTTCCCCTCCTTGTGTCCCCACGGCGCTTGAACACCTCCGTCTTTCACGCAGTGGTTCTCAAACTTCACTGGGGCAAGTAGCTTTAAAGTCAGGGGGTCTTTGGCCGGGTGCCATGGCTCAAACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGAGGATCATCTGAGCCAAGGAGTTCCAAACCAACCTGGGCAACGTAGTGAGAACTGGTTTCAACAAAATATTAAAAAAATAAGCCAGGTGTGGTGGGGCCTGCCTATGGTCCCAGCTATTCTGGAGGCTGAGTCCGGAGGAGCACTTGAGCCCAAGAGGTTGAGGCTGCAGTGAGCTGTGGTTGTACCACTGCACTCCAGTCCGGATGACAGAGTGAAACCCTGTCTCAAAAAAAAAGAGAGAAAGTCAGGGTATCCTTGGAAGCAAAATGCTCCCCCAGCTCCAGCCAGAGTCGTCTGCCGTTTCTCAATTTATGTGTTGAGTCCATCTATGTTTTGCTTTGCTTTTTTTTTGAAAAGGGGTCCCAGGGTTGCTTAAAAAAATTCAAAAGTCACCATTGGCCGGGCTCAGTGGCTCATGCCCATAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACTGGGCGTAGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGTCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAGAATGAAACTGTCTTAAAAAAAAAAAAAAGAAAGAAAAAGTCACCATCATAGATCGTCTACATCCACTGCCTTCACCCTACTTCTCTAAGCCAAACAAAACCAAAAACCAAAAATCTCTCTCAAAACTGAACAGGGCACAGCTTCTGAAGAGTCATCCTGAAGATCCTTCTTAAGTAAACCTGGCCTTCTGCAAAATTCCACACAGGTCATAGGACGCAGGATTCCAACGTGCACCCTCCCCCAGCCCCCAGGCCGCCTCAGCTCCCGGGGATCTGACTTTGAGAACCACTACTCCAAAGACCAAAGCATCTTGCCTGAGGGACACAAGCAGTAGAGGAATCTCTGCTTTTTCTGTAGAGCAGAATAGCACAGGAAGGGGACAGAGTGGCCCAGGCTTTCCCTAAATAACCTAGTGCAGACAAGCACGTGCATCCTGACCTCTACCCAGCCCATCTGGGTGCTCAGGGACCAGCACATGCACCACGGGCCCTGATTGGACACTGCCTGGGAGGTGGCTGCCCACGGCCCACTCGGCTGGAGAACACCAAAGAAGGGGGCTCATACTTCCTCACCCTTCTTCCCCGCTGGCAAAGCTAAGAAAATCTGTGTACAGACACCCCCAGCTCTCCCATCCCCGATAGGAAGAGCCCGGAAGGATCAGACTGGGCTTCCTCTTGGTATAGGTTGGTGTGACCGTGTTTCTGACCCCCCTGCTGTTGTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTGAGAAGGAATTTCACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCANNNN	pathogenic	1,653
Mutation at chromosome 1, position 7751268, within CAMTA1 (calmodulin binding transcription activator 1): benign or pathogenic? If pathogenic, indicate the disease(s).	pathogenic; ['Cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities']	TCTATCACCTTGTCATAATCCAGGACTTGCCTCAATTTCTGATATGGGTTGCCGTTTCCTCAAGCTTCTCTAGGATTAAGCCCTATTAATGGGGGTGGGGGGACGTCTTTGGCTTCGAGCCAGTTGAGTTCATGATCCCAGAAAAGGAAGGTTTATTGTGCAAACGCTGACACCACAGTGCCTGTAGCTCTATAGCAGGGAGCCGCACTGGCTTCTGTTTGGTGAGCAGGCTTCCTGGGAGCACAAGTGATACACAGAATGAAGGTTTCAAGTCTGTGATTACAACAGGTATTGATTCCAAAATATGAGTTTGGTTTTTTAAAAAAAAAAACCCTCCCCAGAAACTGTCATCTACAGCTAGGAAGACAGAAGGCATTATTTTTGGAAAGAGTAACAACTATAAAACAAATATTTTGGAAGATGGAAGGCATTAATATAGCCAGGTTGCCTTTTTTTTTTTTCTTGGTTGGGAGTTTTATTGATTCTGGTTTTTAATTTCATTATATTCAGCAATGTAACATTAATCTTGTATTTTCTGTTTTTCCCCCAAGCTGACATGGATAGCCTTGAAGGTAATGATACACCCAAGCCCTCTCACAAACCATTCCACCAGAGTCACAAACTTCACACCCATCACCAGCTACAGGGAGGGCCATTAAGATGGCACAGTCATGGAGTAAACATATCCCCCTTGCCAGGCCACCTAAGCACAGTTCCTCTGTCGTCTGGGGACCACGTGGTTATTCAGCTGGAGTGGGTTTCGACATTAATAACTGGACATTTTTTGGCTGGTGTTAATCCATCTAAGCCAGTTCCTGTGAGCCCTGTGGCCACTAAGTAAATACCCTTTTTCCCAAAGCGCTTCACTGTGGCCCGATGGGTCTGAGTGTGTAGTGTGCACAGGTGGAGACGATGGAAACCACAGGGGCTCTGTAGTCTGCAGCATTCTTGTCTTCAAAGACTTTCAGACCAGTGAAAAGGTAAAGCAGGTCAGATAAGACCAAAGAAGGTTCTTGCAGAAGGGTCCTGGTTCTTGGACAATTCTGAGAAGTCAGTTTCCCTCCCTCATTTCACCTCCTCATACATCCAGAGATACAGTTAGGCAGATACAGGGATTTTCTGGGGAATATTTTTCCTTGCGACGGTAAGTTGCCGTCTTATAAGCAAAGGGCTTCATTGCAACTTCTCATCCCCAGAGTCATACTCTGTTTGATTAGAAATTTGGACGTAGCATTTTAAGACCATGGAGAGCTCTGTATTTTTAGTGCCTAGAGACTGATGTTGAGAATTCACCCTGGGCCTTCGTCCCTCACTTCTGTAGCTCTGCAGCGGGCTGCGTGGAGGACTCCTGGCACTGCCTCCTGGGTCGTCCGCAGCTCTGTGACAGCCGTCCAGGTTTCACGGCTTCACCACCGTGTTGGTCTTACGAGTGTTCATCTTTTACAGGTTAAAATGGCTTAAAGGTGTCAGCGTTTCATGATAAGCCTTGTATTTGGGACCTTGCAACTCAGTCAGAAACTTGTCGTGTGGAATGATAGTTAAAAATCAGAGGCTGAATGCTAAGTAGATTTGTGTATGGTGGGAATTGGAAGGCATAAAAAAATTATGTTAGTGTTTCAAAACTGGATAGAAAATATTAATCCGAAGCATTTAAAATTTTACTGTCGAAATCTGTTTTTAGATTCATAAACGTCTAAGGGTATTGCTATTAAAATTTTTCTCCAAGAAGGGCAAGATATTTTGATATTTTAGGGAAAAAATATATGTCTGAAGGCAACCCTTAAAGTAATATTTTACATTTTGGAAAGGTAGGTGTAAAGATTCCTCATTTGCCTCTTTTGTGATTAAACCCCGGACAGAGAATGTGATAATAGAGGGGAAAAGCATTTTCTCTTCTTCCCTTCCCGGTAAGCTCGAAGGACGCTGAGCCCGTGCAGCCCCTGTTGTTACTGTGTCGCTTGTTCTTGTTTCCCCTGCAGTACGCACTTTATAAAAAGATGACACAGGCTGCCATCCTTATCCAGAGCAAATTCCGAAGTTACTATGAACAAAAAAAATTCCAGCAGAGCCGACGGGCTGCTGTGCTCATCCAAAAGTACTACCGAAGTTATAAGAAATGTGGCAAAAGACGGCAGGCTCGCCGGACGGCTGTGATTGTACAACAGAAACTCAGGTGGGTGGAGAAGAGCTCATGGAGGTAAAGCTCCCTAGGGAAGAGAACTCTGACTTCTTTGAAAGACTTGTCCTGGGCTGACATTGGAGTCTGGGGTGGGCCTAAAGCATTGGCAGTCACTGTGTTCCAGAACGTTTTAGGCATGGTGGCTGATAAGTACACCTGTGCTGAGTCTGGTTTTGAATATTTAGCTCTTTCTCTCCACCTCCCACCCAATTATTTTGATATTGCCACCCAATTTTACCTTATATCAGAATTTGGCAGCACCAGTTTCTACTCAGAAAGTTACCACTCAATTATAGTAGTTTAACCCATTTCCTGTTTAGGAAAAAAAAAAAAAAGTACAGCCCGCTGCCAGCACTCATGTAATTTTACATAAACATGCTCTTTGAGGCTGAAGGAAATCTGATTTTCAATGTGAAAATAAAATATGAAAACTATTCTTGGAGTTATTTCTAAACAGAACTTGTTCCTAATCCTAATGTAACTGAAACGTATATGATGCTACATTCCGATTAGAGACAAGGCTATTCTTGACACAAATGGGAAATGAGTGAAATTGTAGAATTACTGCATGTGAGACCTTGGGAGAGTAATTAGGGTTAAGCTGTTCCATTTTAGAGACTGTAATAAAAATGTTGAGCCAAGTAAAATATATTGATCAGTACATTTACAAAATAGCCCAAAGAGTGTATCAACTCCGGTGAATCACCTTGTAAACTAAGAAAGCCTCTCTAATGCCAGAATGCCTTTTGTGGCAAAATGAGCTTATAATGAATTGTGGAAGAATATTTAAGTGACATTTTATTTTCAGTCTTTGTATAGTCTGTCTTGAAGCTGAGAGCGCCTATACACACCCTCCTTTCTCCTCTAGTGATGCCCGGACTCGATACTATGGGAACAGCATACGCACTCATCCCCCTTCAGATTGTATACATCTTTAACATATGCTGTTGGCTTTGCTACACGAACTGCTTAATTCAGAGTCCTCTGTCACTGCTGACCAGTTTTCCATATTGGGCTTTACTGTAACCTTCTTGTGACAATAATATTCTGACTTTTTCAGGAGCAGTTTGCTAACCAAAAAGCAGGATCAAGCTGCTCGAAAAATAATGAGGTTTCTTCGCCGCTGTCGCCACAGGTACACTAGTCCTTGTTTATACATTCTGCTCAGGGAGAATGATGAAGCAACCCTGACCTTCTTAACCCTCACTAACTCCTATGTAAAGCTAATCCCCCTGCAGATAATCAGGGCAGACGTCCCAAATTACAATAGGGCGGTAGAGCTCTTTAACTAGGGATCAGGTTGCTACCCTTGGAGTGCTGGTAACCATGTCAGACGATGCTGTTTGAACAATGGAGATTCATGCCCGTGTTTTTCTGTTTTAATTTGGGTGTGAGGTCAACTTAGTCGGACTAGCTTTTAATTCTAAGTTTCTCTTTAACCTGTGATTGATATGCCACATTGCAGTATGTTCTTTGCTCTAATCCTTTACTATGCTAGCGCGTGTCCAAACAGAAAACAGTTTCTAGTCTCAAGGAAGGGAAAGAAAACCACGAATTCCAAACAAGTTTTCTGATGTAGAATTTCCACCAGATAGCTGGTGCCCTCTGCTGGTCATGTAATCGCCAACATGCTCTATTATTAAACTATCAATTAAAGCCGGTCCGTGATGAGGAACAGGAGAGATCACTGGAATGCAGCTGTTCAGGAAAAGAAAGACATCTGAGACTCTGGGCACATCTTCAATTAGTAGGAAATGGGGTCCTGTGACCCCAGCATTCTGTGGGATGCAGCATCTTCTCATGGAGCTAAGCCAGAGGAATTTCTCTTTGTTCCTCAAATTTGAGATTTCTTTATGAAGACTAGCGTCTCTACTTAGATTTCAGAGGGCTGGTGAAAGTGGTTTGTGTTCTTTATCC	TCTATCACCTTGTCATAATCCAGGACTTGCCTCAATTTCTGATATGGGTTGCCGTTTCCTCAAGCTTCTCTAGGATTAAGCCCTATTAATGGGGGTGGGGGGACGTCTTTGGCTTCGAGCCAGTTGAGTTCATGATCCCAGAAAAGGAAGGTTTATTGTGCAAACGCTGACACCACAGTGCCTGTAGCTCTATAGCAGGGAGCCGCACTGGCTTCTGTTTGGTGAGCAGGCTTCCTGGGAGCACAAGTGATACACAGAATGAAGGTTTCAAGTCTGTGATTACAACAGGTATTGATTCCAAAATATGAGTTTGGTTTTTTAAAAAAAAAAACCCTCCCCAGAAACTGTCATCTACAGCTAGGAAGACAGAAGGCATTATTTTTGGAAAGAGTAACAACTATAAAACAAATATTTTGGAAGATGGAAGGCATTAATATAGCCAGGTTGCCTTTTTTTTTTTTCTTGGTTGGGAGTTTTATTGATTCTGGTTTTTAATTTCATTATATTCAGCAATGTAACATTAATCTTGTATTTTCTGTTTTTCCCCCAAGCTGACATGGATAGCCTTGAAGGTAATGATACACCCAAGCCCTCTCACAAACCATTCCACCAGAGTCACAAACTTCACACCCATCACCAGCTACAGGGAGGGCCATTAAGATGGCACAGTCATGGAGTAAACATATCCCCCTTGCCAGGCCACCTAAGCACAGTTCCTCTGTCGTCTGGGGACCACGTGGTTATTCAGCTGGAGTGGGTTTCGACATTAATAACTGGACATTTTTTGGCTGGTGTTAATCCATCTAAGCCAGTTCCTGTGAGCCCTGTGGCCACTAAGTAAATACCCTTTTTCCCAAAGCGCTTCACTGTGGCCCGATGGGTCTGAGTGTGTAGTGTGCACAGGTGGAGACGATGGAAACCACAGGGGCTCTGTAGTCTGCAGCATTCTTGTCTTCAAAGACTTTCAGACCAGTGAAAAGGTAAAGCAGGTCAGATAAGACCAAAGAAGGTTCTTGCAGAAGGGTCCTGGTTCTTGGACAATTCTGAGAAGTCAGTTTCCCTCCCTCATTTCACCTCCTCATACATCCAGAGATACAGTTAGGCAGATACAGGGATTTTCTGGGGAATATTTTTCCTTGCGACGGTAAGTTGCCGTCTTATAAGCAAAGGGCTTCATTGCAACTTCTCATCCCCAGAGTCATACTCTGTTTGATTAGAAATTTGGACGTAGCATTTTAAGACCATGGAGAGCTCTGTATTTTTAGTGCCTAGAGACTGATGTTGAGAATTCACCCTGGGCCTTCGTCCCTCACTTCTGTAGCTCTGCAGCGGGCTGCGTGGAGGACTCCTGGCACTGCCTCCTGGGTCGTCCGCAGCTCTGTGACAGCCGTCCAGGTTTCACGGCTTCACCACCGTGTTGGTCTTACGAGTGTTCATCTTTTACAGGTTAAAATGGCTTAAAGGTGTCAGCGTTTCATGATAAGCCTTGTATTTGGGACCTTGCAACTCAGTCAGAAACTTGTCGTGTGGAATGATAGTTAAAAATCAGAGGCTGAATGCTAAGTAGATTTGTGTATGGTGGGAATTGGAAGGCATAAAAAAATTATGTTAGTGTTTCAAAACTGGATAGAAAATATTAATCCGAAGCATTTAAAATTTTACTGTCGAAATCTGTTTTTAGATTCATAAACGTCTAAGGGTATTGCTATTAAAATTTTTCTCCAAGAAGGGCAAGATATTTTGATATTTTAGGGAAAAAATATATGTCTGAAGGCAACCCTTAAAGTAATATTTTACATTTTGGAAAGGTAGGTGTAAAGATTCCTCATTTGCCTCTTTTGTGATTAAACCCCGGACAGAGAATGTGATAATAGAGGGGAAAAGCATTTTCTCTTCTTCCCTTCCCGGTAAGCTCGAAGGACGCTGAGCCCGTGCAGCCCCTGTTGTTACTGTGTCGCTTGTTCTTGTTTCCCCTGCAGTACGCACTTTATAAAAAGATGACACAGGCTGCCATCCTTATCCAGAGCAAATTCCGAAGTTACTATGAACAAAAAAATTCCAGCAGAGCCGACGGGCTGCTGTGCTCATCCAAAAGTACTACCGAAGTTATAAGAAATGTGGCAAAAGACGGCAGGCTCGCCGGACGGCTGTGATTGTACAACAGAAACTCAGGTGGGTGGAGAAGAGCTCATGGAGGTAAAGCTCCCTAGGGAAGAGAACTCTGACTTCTTTGAAAGACTTGTCCTGGGCTGACATTGGAGTCTGGGGTGGGCCTAAAGCATTGGCAGTCACTGTGTTCCAGAACGTTTTAGGCATGGTGGCTGATAAGTACACCTGTGCTGAGTCTGGTTTTGAATATTTAGCTCTTTCTCTCCACCTCCCACCCAATTATTTTGATATTGCCACCCAATTTTACCTTATATCAGAATTTGGCAGCACCAGTTTCTACTCAGAAAGTTACCACTCAATTATAGTAGTTTAACCCATTTCCTGTTTAGGAAAAAAAAAAAAAAGTACAGCCCGCTGCCAGCACTCATGTAATTTTACATAAACATGCTCTTTGAGGCTGAAGGAAATCTGATTTTCAATGTGAAAATAAAATATGAAAACTATTCTTGGAGTTATTTCTAAACAGAACTTGTTCCTAATCCTAATGTAACTGAAACGTATATGATGCTACATTCCGATTAGAGACAAGGCTATTCTTGACACAAATGGGAAATGAGTGAAATTGTAGAATTACTGCATGTGAGACCTTGGGAGAGTAATTAGGGTTAAGCTGTTCCATTTTAGAGACTGTAATAAAAATGTTGAGCCAAGTAAAATATATTGATCAGTACATTTACAAAATAGCCCAAAGAGTGTATCAACTCCGGTGAATCACCTTGTAAACTAAGAAAGCCTCTCTAATGCCAGAATGCCTTTTGTGGCAAAATGAGCTTATAATGAATTGTGGAAGAATATTTAAGTGACATTTTATTTTCAGTCTTTGTATAGTCTGTCTTGAAGCTGAGAGCGCCTATACACACCCTCCTTTCTCCTCTAGTGATGCCCGGACTCGATACTATGGGAACAGCATACGCACTCATCCCCCTTCAGATTGTATACATCTTTAACATATGCTGTTGGCTTTGCTACACGAACTGCTTAATTCAGAGTCCTCTGTCACTGCTGACCAGTTTTCCATATTGGGCTTTACTGTAACCTTCTTGTGACAATAATATTCTGACTTTTTCAGGAGCAGTTTGCTAACCAAAAAGCAGGATCAAGCTGCTCGAAAAATAATGAGGTTTCTTCGCCGCTGTCGCCACAGGTACACTAGTCCTTGTTTATACATTCTGCTCAGGGAGAATGATGAAGCAACCCTGACCTTCTTAACCCTCACTAACTCCTATGTAAAGCTAATCCCCCTGCAGATAATCAGGGCAGACGTCCCAAATTACAATAGGGCGGTAGAGCTCTTTAACTAGGGATCAGGTTGCTACCCTTGGAGTGCTGGTAACCATGTCAGACGATGCTGTTTGAACAATGGAGATTCATGCCCGTGTTTTTCTGTTTTAATTTGGGTGTGAGGTCAACTTAGTCGGACTAGCTTTTAATTCTAAGTTTCTCTTTAACCTGTGATTGATATGCCACATTGCAGTATGTTCTTTGCTCTAATCCTTTACTATGCTAGCGCGTGTCCAAACAGAAAACAGTTTCTAGTCTCAAGGAAGGGAAAGAAAACCACGAATTCCAAACAAGTTTTCTGATGTAGAATTTCCACCAGATAGCTGGTGCCCTCTGCTGGTCATGTAATCGCCAACATGCTCTATTATTAAACTATCAATTAAAGCCGGTCCGTGATGAGGAACAGGAGAGATCACTGGAATGCAGCTGTTCAGGAAAAGAAAGACATCTGAGACTCTGGGCACATCTTCAATTAGTAGGAAATGGGGTCCTGTGACCCCAGCATTCTGTGGGATGCAGCATCTTCTCATGGAGCTAAGCCAGAGGAATTTCTCTTTGTTCCTCAAATTTGAGATTTCTTTATGAAGACTAGCGTCTCTACTTAGATTTCAGAGGGCTGGTGAAAGTGGTTTGTGTTCTTTATCCN	pathogenic	1,690
Benign or pathogenic: chromosome 1, position 7965336, gene PARK7 (Parkinsonism associated deglycase) variant? Disease(s) if pathogenic?	pathogenic; ['Autosomal_recessive_early-onset_Parkinson_disease_7']	TCCTGAGCTCAAGTTGTCCACCCGCCTCAGGCCTCCCAAAGTGTTAGGACTACAGGCGTGAGCCACTGCACTGTCCTTAGACCCATTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGAGCAGATGCTTCAAAGAAATACATTTGAAGCCCCCTTTGTAAATTTCTCCAATCCTATGCCCCTTCTTCCTTCCTTAAAGATAAGTGCTATCCTCGCACTCTTGTGTATCCATGCATGTGTGTCTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGACCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGATGTGAGCTACTGCACCCGCCCCCACGCATGTCTTTAAGGTAGCATTTGACCGTGGTTCTCATTTTGCGTGTTTATATATTATCTCTCTCTATCTAAAAATAGTGAACAGTGAAGTGAAGTAGAACTAACTCTGTGCCAGGCAGCATTCTAAGTGCCGATAAACCTTACAACAATGTCGTGAGTTAGATATCACCATCCTCATTTTACAGTTGAAGAAACTGAGGCACAGAGACATAAATAATGTACCCACATCACGTAGTAAGTACAAAAGCCAGAACTCAGACCCAGGCAGCCTGGCCCCAGAGTCTGTTAACCCTATACTCCTCTGGTTCTCAGAAATGAAGATACATGTCGATTAAGTTTATCCACTTAAAATTGCTGCTTGGTGTTGCACTGAATGCCACAATCTACCCATTCCTCTAATTACAGCATTACAATTCTGTAATACGTATTCTTGTGTAGGTTTCTTTGTGCAAATGTGAGGAAATTTTTCCAGGTTATATATCTAAAAGTAGAATGACTAGGCCGAAGGATAGCCTGTAGTCAGCATGACTAGGTTTTGCCAAGTTGCTCTCCAGTGTCCCAGTTTGTAGTCCCACCAGCAGTGTAGGAAAATTCCCACTTTCCCAGTGCCAGCTCTTGGTATTGTTGACTTTAAAAATTTTTGAAAGATAAAGCAGTATTTCGTTGTTTGGACTTGCATTTCTATTTTACAAAAATACCATGAGGTTTAAATGGCAACAGTAAACTTGCAAGATGAGTTATTAATAGGATGATCATATAACTGGTCACCCAAACCAGAACATTTGTGGGAGAAAGGGTGTTCCAGTCCCACAGAGTACAGGGCAGCAGCTATAAGTAGGGTCTGTCCCGGGCAAACCAGGGTAGACCTAGTTATTAAATATATTTAGCCAGTGTATTAGCTTAAATTTGGTATAGTTGTGGTGCAGTATTTCCTGTCATGTTACTTTCAAACACAGGGCAGCTGTGTAAACGTTACTCTAGCTGGGTGTGGTGGCTCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGGATCATTTGAGCCCAGGAGCTGGAGGCTGCAGTAAGCTATGATTGTGTCACTGCCCTCTAGCCCAGGTGACAGGGTGAGACCCCATCTCTCTTTTTTCTTTTTTTTTAAAGACAGTGTTACTCTGAATTTATGTTTCAGTGTTCTTAAATATGATAACATCTTTCTCGTAGATTAAGGTCACCGTTGCAGGCCTGGCTGGAAAAGACCCAGTACAGTGTAGCCGTGATGTGGTCATTTGTCCTGATGCCAGCCTTGAAGATGCAAAAAAAGAGGTTTGTAATCCATACATGGAGTTATTCCTTCATATGGCTTCTTTGTTTCTTGAAATGTCTTAAGAGTGTTGTTAGCACAGACTCATTTTAGAAAATTATTTTGCTTGAATGTCTTCCCCTGACAGATTAAGAGGGTGAGGACTTTGTCTTTCTATTCTGTATCTGTAGAATGTGGCAATTGCTTGATACAGAATGTGCTTAGTAAGTGGGTGGCTGGATGGGTAGGTGGCCGGTTGGATGTGTGGCCAGATGGGTGGGTTGGTGCTTAGATGGATGGCTGCATTGTTTTCCCATCAGTATTTTTCTGGCTTACACAGGCATCCTTGCCTCCTATTACACATTTTTACCTGACATAAATCAACTGCCACATTTTCCATTTTTTATTATTATTATTTTTGTTTAGAGGAATGGTCCCACTCTCTCCCCTAGGCTGGAGTCCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCAATCCTCCCACCTCAACCCCCCACGTAGCTCGGACTACAGGCATGTGCCATGCCCGGCCATTATTTTTTCTAAAGATACTTTCAGAGTTCCACTGTAGTTGTGTTGTTTTTTCAGTATCGTTGGAATTATGGCTCTTACCTTTAAGGACGATGGACACTTTTGGAAGCTAGCATCCCTTTCCTCAGAAACATGCTCCCCCACAGGCGCTTTTGCACACTCCGTCGTGCGGTCAGCGTGACAGGAGTGTGGACTGTACCCTCTGACAGCAGGGTCATGGCAGGAAAGGAGGCAGAGTCGGCTCACAGATGGCTGGTTGCACACTGCTGAGGAACCTGGAGTGCGGTTCCCTGGGCCGAGCTGTCCTCAGATACATAGGAAAAAGTTTAATCCTTTCTAATAAGTTTAGATTTTTCATTACTGGATTGTAGAAAATTAGACTGTTGGTATTTACATGTGATTTGTTGAAACAAATTAAAAATGACAAGCAGAAGTAAGTATTCCAGGCCAAGTGCAGTGGCTCACCTGTAATCCCAGCACTTTTGGAGGCCAAAGTGGGAGGATCACTTGGGACCAGGAGTTTGAGACCAGCCTGGGCAACATAGCGAGACCGTTTCTCTTTAAATTAAAAATTTGTAAAAGCCAGGTGTGGTGGTGCATGCCTGTAGTTCTAGCTACTTAAGAGGCTGAGGCAAGAGGATCACTTGAGCCTAGACGGTTGCTTGAGCCCAGGAATTTGAGACAGCAGTGAACTGTGATTGTGCCATTGCCCTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAATAATAATAATACTTTTTTTCATCTCTGTTTGTGTTTTTGTCATATGATGTCTGGGCATTTTAAAACAGTGGTTACCTTTATTTTCAATCGACAGATAATAAGTGTACATATTCATGGGATTTGTGATGTTTCCATGCATAATATATAGTGATCGGATCAGAGTAATTAGCATATCCATCATCTCAAACATTTCTTTGTGTTGGGAACGTTCAATATCCTCCTTGCTATTTGAAACTATATATGATTGTTAACTATAGTCATTCTACGGGGGTATAGAACACCAGAACCTATTCCTCCTATCTAGCTATAATTTTGTATCTTTTAACAAATCTCTCCCTATCCCCACTTTCTCCTATCCTCCCCAGCCTCTAGTATCCTCTGTCCTACATTATGCTTCTATGTGATCAATTTTTTTTTAGCTTTCACATATGAGTGAGAACATGGAGTGTTTAATTTGCTATTCCTGGCTTCTTTCACTTAATATAATGTTCTCTAGTTCCATTCTTGTAGCCACAAATGACAAGATTTCATTCTTTTTTATGGCTGGATAGTATCCCATTGTGTATAAATGCCACATTTTCTTTATGCATTCATCTGTTGTTGGACCTAGGTTGATTTCGTATGTTGGCTAGTGTGACTGTTGGTGTAGTAAACAAGGGAGTG	TCCTGAGCTCAAGTTGTCCACCCGCCTCAGGCCTCCCAAAGTGTTAGGACTACAGGCGTGAGCCACTGCACTGTCCTTAGACCCATTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGAGCAGATGCTTCAAAGAAATACATTTGAAGCCCCCTTTGTAAATTTCTCCAATCCTATGCCCCTTCTTCCTTCCTTAAAGATAAGTGCTATCCTCGCACTCTTGTGTATCCATGCATGTGTGTCTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGACCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGATGTGAGCTACTGCACCCGCCCCCACGCATGTCTTTAAGGTAGCATTTGACCGTGGTTCTCATTTTGCGTGTTTATATATTATCTCTCTCTATCTAAAAATAGTGAACAGTGAAGTGAAGTAGAACTAACTCTGTGCCAGGCAGCATTCTAAGTGCCGATAAACCTTACAACAATGTCGTGAGTTAGATATCACCATCCTCATTTTACAGTTGAAGAAACTGAGGCACAGAGACATAAATAATGTACCCACATCACGTAGTAAGTACAAAAGCCAGAACTCAGACCCAGGCAGCCTGGCCCCAGAGTCTGTTAACCCTATACTCCTCTGGTTCTCAGAAATGAAGATACATGTCGATTAAGTTTATCCACTTAAAATTGCTGCTTGGTGTTGCACTGAATGCCACAATCTACCCATTCCTCTAATTACAGCATTACAATTCTGTAATACGTATTCTTGTGTAGGTTTCTTTGTGCAAATGTGAGGAAATTTTTCCAGGTTATATATCTAAAAGTAGAATGACTAGGCCGAAGGATAGCCTGTAGTCAGCATGACTAGGTTTTGCCAAGTTGCTCTCCAGTGTCCCAGTTTGTAGTCCCACCAGCAGTGTAGGAAAATTCCCACTTTCCCAGTGCCAGCTCTTGGTATTGTTGACTTTAAAAATTTTTGAAAGATAAAGCAGTATTTCGTTGTTTGGACTTGCATTTCTATTTTACAAAAATACCATGAGGTTTAAATGGCAACAGTAAACTTGCAAGATGAGTTATTAATAGGATGATCATATAACTGGTCACCCAAACCAGAACATTTGTGGGAGAAAGGGTGTTCCAGTCCCACAGAGTACAGGGCAGCAGCTATAAGTAGGGTCTGTCCCGGGCAAACCAGGGTAGACCTAGTTATTAAATATATTTAGCCAGTGTATTAGCTTAAATTTGGTATAGTTGTGGTGCAGTATTTCCTGTCATGTTACTTTCAAACACAGGGCAGCTGTGTAAACGTTACTCTAGCTGGGTGTGGTGGCTCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGGATCATTTGAGCCCAGGAGCTGGAGGCTGCAGTAAGCTATGATTGTGTCACTGCCCTCTAGCCCAGGTGACAGGGTGAGACCCCATCTCTCTTTTTTCTTTTTTTTTAAAGACAGTGTTACTCTGAATTTATGTTTCAGTGTTCTTAAATATGATAACATCTTTCTCGTAGATTAAGGTCACCGTTTGCAGGCCTGGCTGGAAAAGACCCAGTACAGTGTAGCCGTGATGTGGTCATTTGTCCTGATGCCAGCCTTGAAGATGCAAAAAAAGAGGTTTGTAATCCATACATGGAGTTATTCCTTCATATGGCTTCTTTGTTTCTTGAAATGTCTTAAGAGTGTTGTTAGCACAGACTCATTTTAGAAAATTATTTTGCTTGAATGTCTTCCCCTGACAGATTAAGAGGGTGAGGACTTTGTCTTTCTATTCTGTATCTGTAGAATGTGGCAATTGCTTGATACAGAATGTGCTTAGTAAGTGGGTGGCTGGATGGGTAGGTGGCCGGTTGGATGTGTGGCCAGATGGGTGGGTTGGTGCTTAGATGGATGGCTGCATTGTTTTCCCATCAGTATTTTTCTGGCTTACACAGGCATCCTTGCCTCCTATTACACATTTTTACCTGACATAAATCAACTGCCACATTTTCCATTTTTTATTATTATTATTTTTGTTTAGAGGAATGGTCCCACTCTCTCCCCTAGGCTGGAGTCCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCAATCCTCCCACCTCAACCCCCCACGTAGCTCGGACTACAGGCATGTGCCATGCCCGGCCATTATTTTTTCTAAAGATACTTTCAGAGTTCCACTGTAGTTGTGTTGTTTTTTCAGTATCGTTGGAATTATGGCTCTTACCTTTAAGGACGATGGACACTTTTGGAAGCTAGCATCCCTTTCCTCAGAAACATGCTCCCCCACAGGCGCTTTTGCACACTCCGTCGTGCGGTCAGCGTGACAGGAGTGTGGACTGTACCCTCTGACAGCAGGGTCATGGCAGGAAAGGAGGCAGAGTCGGCTCACAGATGGCTGGTTGCACACTGCTGAGGAACCTGGAGTGCGGTTCCCTGGGCCGAGCTGTCCTCAGATACATAGGAAAAAGTTTAATCCTTTCTAATAAGTTTAGATTTTTCATTACTGGATTGTAGAAAATTAGACTGTTGGTATTTACATGTGATTTGTTGAAACAAATTAAAAATGACAAGCAGAAGTAAGTATTCCAGGCCAAGTGCAGTGGCTCACCTGTAATCCCAGCACTTTTGGAGGCCAAAGTGGGAGGATCACTTGGGACCAGGAGTTTGAGACCAGCCTGGGCAACATAGCGAGACCGTTTCTCTTTAAATTAAAAATTTGTAAAAGCCAGGTGTGGTGGTGCATGCCTGTAGTTCTAGCTACTTAAGAGGCTGAGGCAAGAGGATCACTTGAGCCTAGACGGTTGCTTGAGCCCAGGAATTTGAGACAGCAGTGAACTGTGATTGTGCCATTGCCCTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAATAATAATAATACTTTTTTTCATCTCTGTTTGTGTTTTTGTCATATGATGTCTGGGCATTTTAAAACAGTGGTTACCTTTATTTTCAATCGACAGATAATAAGTGTACATATTCATGGGATTTGTGATGTTTCCATGCATAATATATAGTGATCGGATCAGAGTAATTAGCATATCCATCATCTCAAACATTTCTTTGTGTTGGGAACGTTCAATATCCTCCTTGCTATTTGAAACTATATATGATTGTTAACTATAGTCATTCTACGGGGGTATAGAACACCAGAACCTATTCCTCCTATCTAGCTATAATTTTGTATCTTTTAACAAATCTCTCCCTATCCCCACTTTCTCCTATCCTCCCCAGCCTCTAGTATCCTCTGTCCTACATTATGCTTCTATGTGATCAATTTTTTTTTAGCTTTCACATATGAGTGAGAACATGGAGTGTTTAATTTGCTATTCCTGGCTTCTTTCACTTAATATAATGTTCTCTAGTTCCATTCTTGTAGCCACAAATGACAAGATTTCATTCTTTTTTATGGCTGGATAGTATCCCATTGTGTATAAATGCCACATTTTCTTTATGCATTCATCTGTTGTTGGACCTAGGTTGATTTCGTATGTTGGCTAGTGTGACTGTTGGTGTAGTAAACAAGGGAGT	pathogenic	1,720
Variant in PARK7 (Parkinsonism associated deglycase), chromosome 1, position 7965421—is this benign or pathogenic? If pathogenic, what disease(s) is linked?	pathogenic; ['Autosomal_recessive_early-onset_Parkinson_disease_7']	TTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGAGCAGATGCTTCAAAGAAATACATTTGAAGCCCCCTTTGTAAATTTCTCCAATCCTATGCCCCTTCTTCCTTCCTTAAAGATAAGTGCTATCCTCGCACTCTTGTGTATCCATGCATGTGTGTCTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGACCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGATGTGAGCTACTGCACCCGCCCCCACGCATGTCTTTAAGGTAGCATTTGACCGTGGTTCTCATTTTGCGTGTTTATATATTATCTCTCTCTATCTAAAAATAGTGAACAGTGAAGTGAAGTAGAACTAACTCTGTGCCAGGCAGCATTCTAAGTGCCGATAAACCTTACAACAATGTCGTGAGTTAGATATCACCATCCTCATTTTACAGTTGAAGAAACTGAGGCACAGAGACATAAATAATGTACCCACATCACGTAGTAAGTACAAAAGCCAGAACTCAGACCCAGGCAGCCTGGCCCCAGAGTCTGTTAACCCTATACTCCTCTGGTTCTCAGAAATGAAGATACATGTCGATTAAGTTTATCCACTTAAAATTGCTGCTTGGTGTTGCACTGAATGCCACAATCTACCCATTCCTCTAATTACAGCATTACAATTCTGTAATACGTATTCTTGTGTAGGTTTCTTTGTGCAAATGTGAGGAAATTTTTCCAGGTTATATATCTAAAAGTAGAATGACTAGGCCGAAGGATAGCCTGTAGTCAGCATGACTAGGTTTTGCCAAGTTGCTCTCCAGTGTCCCAGTTTGTAGTCCCACCAGCAGTGTAGGAAAATTCCCACTTTCCCAGTGCCAGCTCTTGGTATTGTTGACTTTAAAAATTTTTGAAAGATAAAGCAGTATTTCGTTGTTTGGACTTGCATTTCTATTTTACAAAAATACCATGAGGTTTAAATGGCAACAGTAAACTTGCAAGATGAGTTATTAATAGGATGATCATATAACTGGTCACCCAAACCAGAACATTTGTGGGAGAAAGGGTGTTCCAGTCCCACAGAGTACAGGGCAGCAGCTATAAGTAGGGTCTGTCCCGGGCAAACCAGGGTAGACCTAGTTATTAAATATATTTAGCCAGTGTATTAGCTTAAATTTGGTATAGTTGTGGTGCAGTATTTCCTGTCATGTTACTTTCAAACACAGGGCAGCTGTGTAAACGTTACTCTAGCTGGGTGTGGTGGCTCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGGATCATTTGAGCCCAGGAGCTGGAGGCTGCAGTAAGCTATGATTGTGTCACTGCCCTCTAGCCCAGGTGACAGGGTGAGACCCCATCTCTCTTTTTTCTTTTTTTTTAAAGACAGTGTTACTCTGAATTTATGTTTCAGTGTTCTTAAATATGATAACATCTTTCTCGTAGATTAAGGTCACCGTTGCAGGCCTGGCTGGAAAAGACCCAGTACAGTGTAGCCGTGATGTGGTCATTTGTCCTGATGCCAGCCTTGAAGATGCAAAAAAAGAGGTTTGTAATCCATACATGGAGTTATTCCTTCATATGGCTTCTTTGTTTCTTGAAATGTCTTAAGAGTGTTGTTAGCACAGACTCATTTTAGAAAATTATTTTGCTTGAATGTCTTCCCCTGACAGATTAAGAGGGTGAGGACTTTGTCTTTCTATTCTGTATCTGTAGAATGTGGCAATTGCTTGATACAGAATGTGCTTAGTAAGTGGGTGGCTGGATGGGTAGGTGGCCGGTTGGATGTGTGGCCAGATGGGTGGGTTGGTGCTTAGATGGATGGCTGCATTGTTTTCCCATCAGTATTTTTCTGGCTTACACAGGCATCCTTGCCTCCTATTACACATTTTTACCTGACATAAATCAACTGCCACATTTTCCATTTTTTATTATTATTATTTTTGTTTAGAGGAATGGTCCCACTCTCTCCCCTAGGCTGGAGTCCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCAATCCTCCCACCTCAACCCCCCACGTAGCTCGGACTACAGGCATGTGCCATGCCCGGCCATTATTTTTTCTAAAGATACTTTCAGAGTTCCACTGTAGTTGTGTTGTTTTTTCAGTATCGTTGGAATTATGGCTCTTACCTTTAAGGACGATGGACACTTTTGGAAGCTAGCATCCCTTTCCTCAGAAACATGCTCCCCCACAGGCGCTTTTGCACACTCCGTCGTGCGGTCAGCGTGACAGGAGTGTGGACTGTACCCTCTGACAGCAGGGTCATGGCAGGAAAGGAGGCAGAGTCGGCTCACAGATGGCTGGTTGCACACTGCTGAGGAACCTGGAGTGCGGTTCCCTGGGCCGAGCTGTCCTCAGATACATAGGAAAAAGTTTAATCCTTTCTAATAAGTTTAGATTTTTCATTACTGGATTGTAGAAAATTAGACTGTTGGTATTTACATGTGATTTGTTGAAACAAATTAAAAATGACAAGCAGAAGTAAGTATTCCAGGCCAAGTGCAGTGGCTCACCTGTAATCCCAGCACTTTTGGAGGCCAAAGTGGGAGGATCACTTGGGACCAGGAGTTTGAGACCAGCCTGGGCAACATAGCGAGACCGTTTCTCTTTAAATTAAAAATTTGTAAAAGCCAGGTGTGGTGGTGCATGCCTGTAGTTCTAGCTACTTAAGAGGCTGAGGCAAGAGGATCACTTGAGCCTAGACGGTTGCTTGAGCCCAGGAATTTGAGACAGCAGTGAACTGTGATTGTGCCATTGCCCTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAATAATAATAATACTTTTTTTCATCTCTGTTTGTGTTTTTGTCATATGATGTCTGGGCATTTTAAAACAGTGGTTACCTTTATTTTCAATCGACAGATAATAAGTGTACATATTCATGGGATTTGTGATGTTTCCATGCATAATATATAGTGATCGGATCAGAGTAATTAGCATATCCATCATCTCAAACATTTCTTTGTGTTGGGAACGTTCAATATCCTCCTTGCTATTTGAAACTATATATGATTGTTAACTATAGTCATTCTACGGGGGTATAGAACACCAGAACCTATTCCTCCTATCTAGCTATAATTTTGTATCTTTTAACAAATCTCTCCCTATCCCCACTTTCTCCTATCCTCCCCAGCCTCTAGTATCCTCTGTCCTACATTATGCTTCTATGTGATCAATTTTTTTTTAGCTTTCACATATGAGTGAGAACATGGAGTGTTTAATTTGCTATTCCTGGCTTCTTTCACTTAATATAATGTTCTCTAGTTCCATTCTTGTAGCCACAAATGACAAGATTTCATTCTTTTTTATGGCTGGATAGTATCCCATTGTGTATAAATGCCACATTTTCTTTATGCATTCATCTGTTGTTGGACCTAGGTTGATTTCGTATGTTGGCTAGTGTGACTGTTGGTGTAGTAAACAAGGGAGTGCAGGTGTCTCTTCAGTATACTGATTTCCTTTCCATTGGATACATGCCAAGTAGTGGGATTGCTGGACCATATGGTAGTTCCATTT	TTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGAGCAGATGCTTCAAAGAAATACATTTGAAGCCCCCTTTGTAAATTTCTCCAATCCTATGCCCCTTCTTCCTTCCTTAAAGATAAGTGCTATCCTCGCACTCTTGTGTATCCATGCATGTGTGTCTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGACCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGATGTGAGCTACTGCACCCGCCCCCACGCATGTCTTTAAGGTAGCATTTGACCGTGGTTCTCATTTTGCGTGTTTATATATTATCTCTCTCTATCTAAAAATAGTGAACAGTGAAGTGAAGTAGAACTAACTCTGTGCCAGGCAGCATTCTAAGTGCCGATAAACCTTACAACAATGTCGTGAGTTAGATATCACCATCCTCATTTTACAGTTGAAGAAACTGAGGCACAGAGACATAAATAATGTACCCACATCACGTAGTAAGTACAAAAGCCAGAACTCAGACCCAGGCAGCCTGGCCCCAGAGTCTGTTAACCCTATACTCCTCTGGTTCTCAGAAATGAAGATACATGTCGATTAAGTTTATCCACTTAAAATTGCTGCTTGGTGTTGCACTGAATGCCACAATCTACCCATTCCTCTAATTACAGCATTACAATTCTGTAATACGTATTCTTGTGTAGGTTTCTTTGTGCAAATGTGAGGAAATTTTTCCAGGTTATATATCTAAAAGTAGAATGACTAGGCCGAAGGATAGCCTGTAGTCAGCATGACTAGGTTTTGCCAAGTTGCTCTCCAGTGTCCCAGTTTGTAGTCCCACCAGCAGTGTAGGAAAATTCCCACTTTCCCAGTGCCAGCTCTTGGTATTGTTGACTTTAAAAATTTTTGAAAGATAAAGCAGTATTTCGTTGTTTGGACTTGCATTTCTATTTTACAAAAATACCATGAGGTTTAAATGGCAACAGTAAACTTGCAAGATGAGTTATTAATAGGATGATCATATAACTGGTCACCCAAACCAGAACATTTGTGGGAGAAAGGGTGTTCCAGTCCCACAGAGTACAGGGCAGCAGCTATAAGTAGGGTCTGTCCCGGGCAAACCAGGGTAGACCTAGTTATTAAATATATTTAGCCAGTGTATTAGCTTAAATTTGGTATAGTTGTGGTGCAGTATTTCCTGTCATGTTACTTTCAAACACAGGGCAGCTGTGTAAACGTTACTCTAGCTGGGTGTGGTGGCTCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGGATCATTTGAGCCCAGGAGCTGGAGGCTGCAGTAAGCTATGATTGTGTCACTGCCCTCTAGCCCAGGTGACAGGGTGAGACCCCATCTCTCTTTTTTCTTTTTTTTTAAAGACAGTGTTACTCTGAATTTATGTTTCAGTGTTCTTAAATATGATAACATCTTTCTCGTAGATTAAGGTCACCGTTGCAGGCCTGGCTGGAAAAGACCCAGTACAGTGTAGCCGTGATGTGGTCATTTGTCCTGATGCCAGCCTTGAAGATGCAAAAAAAGGTTTGTAATCCATACATGGAGTTATTCCTTCATATGGCTTCTTTGTTTCTTGAAATGTCTTAAGAGTGTTGTTAGCACAGACTCATTTTAGAAAATTATTTTGCTTGAATGTCTTCCCCTGACAGATTAAGAGGGTGAGGACTTTGTCTTTCTATTCTGTATCTGTAGAATGTGGCAATTGCTTGATACAGAATGTGCTTAGTAAGTGGGTGGCTGGATGGGTAGGTGGCCGGTTGGATGTGTGGCCAGATGGGTGGGTTGGTGCTTAGATGGATGGCTGCATTGTTTTCCCATCAGTATTTTTCTGGCTTACACAGGCATCCTTGCCTCCTATTACACATTTTTACCTGACATAAATCAACTGCCACATTTTCCATTTTTTATTATTATTATTTTTGTTTAGAGGAATGGTCCCACTCTCTCCCCTAGGCTGGAGTCCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCAATCCTCCCACCTCAACCCCCCACGTAGCTCGGACTACAGGCATGTGCCATGCCCGGCCATTATTTTTTCTAAAGATACTTTCAGAGTTCCACTGTAGTTGTGTTGTTTTTTCAGTATCGTTGGAATTATGGCTCTTACCTTTAAGGACGATGGACACTTTTGGAAGCTAGCATCCCTTTCCTCAGAAACATGCTCCCCCACAGGCGCTTTTGCACACTCCGTCGTGCGGTCAGCGTGACAGGAGTGTGGACTGTACCCTCTGACAGCAGGGTCATGGCAGGAAAGGAGGCAGAGTCGGCTCACAGATGGCTGGTTGCACACTGCTGAGGAACCTGGAGTGCGGTTCCCTGGGCCGAGCTGTCCTCAGATACATAGGAAAAAGTTTAATCCTTTCTAATAAGTTTAGATTTTTCATTACTGGATTGTAGAAAATTAGACTGTTGGTATTTACATGTGATTTGTTGAAACAAATTAAAAATGACAAGCAGAAGTAAGTATTCCAGGCCAAGTGCAGTGGCTCACCTGTAATCCCAGCACTTTTGGAGGCCAAAGTGGGAGGATCACTTGGGACCAGGAGTTTGAGACCAGCCTGGGCAACATAGCGAGACCGTTTCTCTTTAAATTAAAAATTTGTAAAAGCCAGGTGTGGTGGTGCATGCCTGTAGTTCTAGCTACTTAAGAGGCTGAGGCAAGAGGATCACTTGAGCCTAGACGGTTGCTTGAGCCCAGGAATTTGAGACAGCAGTGAACTGTGATTGTGCCATTGCCCTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAATAATAATAATACTTTTTTTCATCTCTGTTTGTGTTTTTGTCATATGATGTCTGGGCATTTTAAAACAGTGGTTACCTTTATTTTCAATCGACAGATAATAAGTGTACATATTCATGGGATTTGTGATGTTTCCATGCATAATATATAGTGATCGGATCAGAGTAATTAGCATATCCATCATCTCAAACATTTCTTTGTGTTGGGAACGTTCAATATCCTCCTTGCTATTTGAAACTATATATGATTGTTAACTATAGTCATTCTACGGGGGTATAGAACACCAGAACCTATTCCTCCTATCTAGCTATAATTTTGTATCTTTTAACAAATCTCTCCCTATCCCCACTTTCTCCTATCCTCCCCAGCCTCTAGTATCCTCTGTCCTACATTATGCTTCTATGTGATCAATTTTTTTTTAGCTTTCACATATGAGTGAGAACATGGAGTGTTTAATTTGCTATTCCTGGCTTCTTTCACTTAATATAATGTTCTCTAGTTCCATTCTTGTAGCCACAAATGACAAGATTTCATTCTTTTTTATGGCTGGATAGTATCCCATTGTGTATAAATGCCACATTTTCTTTATGCATTCATCTGTTGTTGGACCTAGGTTGATTTCGTATGTTGGCTAGTGTGACTGTTGGTGTAGTAAACAAGGGAGTGCAGGTGTCTCTTCAGTATACTGATTTCCTTTCCATTGGATACATGCCAAGTAGTGGGATTGCTGGACCATATGGTAGTTCCATTTNN	pathogenic	1,722
Clinically, how would you classify the variant at chromosome 1, position 7969406, gene PARK7 (Parkinsonism associated deglycase): benign or pathogenic? If pathogenic, specify the associated illness(es).	benign	CTGTTGGTGTAGTAAACAAGGGAGTGCAGGTGTCTCTTCAGTATACTGATTTCCTTTCCATTGGATACATGCCAAGTAGTGGGATTGCTGGACCATATGGTAGTTCCATTTACTGTAGTTTTTTAAGGAAGTGGTTACCTTTTGTGTGTTTTTATTTTTCAGTGCAGATTCTAAAAGGAGTAAAATAAATTCTATACTTTACACATTTTCTTTTGAGTTTTGAGCTTTGCTTGGTTTTGAATCAACGGTAGGATGTTTATGGTCTTAAAAGTGATTCTAAGCCAGCCATAGTGGTTCACACCTGAAATCCTAGCACTTTGTGAGGCTGAGGCAGGAGGATTACCTGAGCCCAGGAGTTTTGAGACTAGCCTGGGCAATGAAGCGAGACCCTGTCTCTACAAAAATAAAAAAAATTAGCTGGCTGTGGTGGTGCATGCCTGTAGTCCTAGCTCCTGCAGAGGCTGAAGTGGGAGAGTTGCTTGAGCCCAGGAGTTCAAGGCTGTAGTGAGCCACGATTGCATCACTGCACTCTAGCCTGGGTGACAGAGGTGAGGGCTTCTCTCTAAAAAAATTTTATAGGTTGCACTAAATACATAATACATTTTTATTTTGTAATTTGTTTAATGACTAGATTTTTTTTAACCACTTTTTAAAGTACTAAAGTATTGTTGGCCGGCCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGTATCACGAGGTCAGGAGTTTGAGACCAGCCTGGTCAAGAGGGTGAAACCCCATCTTTACTAAAAATACACAGATTAGCCGGGCACAGTGGTGGGTACCTGTAATCCCAGTTGCTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCGGGAGACGGAAGTTGCAGTGAGCTGAGATCACTGCACTCTAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAATAAATAAATAAATAAAAAGTCCTAAAGTATTGTTAAAACAATTTCCGTTTTGTAATTTCAGGAAGTTTGAAATTAATTTGATTTCTAGGATTTTTTGGGGGGGATACTAAAATTCTCCCCCCGTTACATTTTTCATAAAGTTAAGAAAAATTTTTTGTGCCTTTTACTTAAAATTTGTTTCTCTATTAATTTTATTTGTTTTTTTAGACAGAGTCTTGCTCTGTTGCCCAGGCTAGAGTGCGGTGGTGCAGCCTCAGCTCACTGCAGCCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAACCCCCCAAGTAGATGGGACCACAGGTGTGCACCACCACACCCAGCTAATTTTCATATTTTTAGTAGAAATGGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGTAATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCAGTGTGCCCAGCCTGTTTTTCTATTAATTTTTTAAGTTGTTCATGTACATTCTTGTTGAACAATAATTCAAACAATATAGACACATATAAAGTCAAAATGTTAAATGTCCTGTTCTCATTCTCCCTCTGCCCCATCCCACACTACTCCCATTAGCAACTAGAGTGTCTTCCTTTGTCTGTGACTACCTGTATACAGAATATGTGGGGTGGGGTGCTTGTGGTGATTGTACACATACACGCATACATCTACACACAAATACATATATCCTTGTCTTTTACAGGAAGGAGATTATACTACCCCTGCTACTCTGCAGCGTGGACATCCTTGCATGTCACTACATACAGGTTTTCTGCATTTTTTGCTAGTTAAAACACCATTCCGTCATGTGGATACACCTTAATTTATTTAACTGTTCTATTGGCAGATAGGCTATCTCCTGTACTTCCCACATTTAAAATAGGAAAGTATTATTGGACTGTCAATTTAATGCACAGTTGAAATGAAATGTTTTTGTTTTCTTTATGTTTTAAACTGTTACAGGGACCATATGATGTGGTGGTTCTACCAGGAGGTAATCTGGGCGCACAGAATTTATCTGAGGTAAAAAATTCTACTCAATTATACCTCAATAAAGCTGGGGGGGGGGAAAAACTAAAGAATTTCAGCATCTGCTTATGTTCTGTTAATTTTGTTATTATTCAAATATTTCGGGAGGAGGCTGTGAAAAAAAAATAGAAACAACTAAAATTAACAAAATGGTGTTATAGCATTAACTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCTGAGTAGCTGGGATTGCAGGCATGCACCCCCATGCCCTGCTAATTTTTATATTTTTATTAGAGACGGGGTTTCACCATGTTGGCCAGTCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCACTCCCGACCTCAAGAAAACATTTTTAATATTTTCTATGGAGGTCAGGTGCAGTGGCTCAACGTCTATAATCCCAGTGGTTTGGGAGGCTGAGACAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTAAGTAACACATCGAGACGCCATCTCTACAAAAAATTTTCTTTTAATTAGCTGGGCACGGTGGTGCACACTTGTAGTCCCAGCTACTCGGGAGGCTATGGTGGGAGGATGACTTGAGGCCAGGGATTTGAGGCTGCAGTGAGCTGTGAATGCACCACTGCATTCTAGCCTGGGCAACAAAGCAAGAACCTGTCTTATCAGAAAAAAAAAATGTTGCCATGGAAGTAAGCTGAATTGGTGGGACCGTTATGAACAGATGTCGATGAATACAGTCCAAAGTAAGATGATTTGGTTTTTTTCCACCAGCAGAAGAATGATCAGATTTTGTGTTTTGAGAAGGGCAAATTGTCTACTCAAAGTCTTAACTGGGGGAAGCTGTGGGGCTAGGGCTGCCAGCAGGAATGGCAAATGCCATCAGCAGAGACCATTGTTCCTCATTTTAAGTCGTATGTGAGGAGTCAGAGGCCAGGGTGAGGGGCACACCTGCAGGCAGAGTTGGGGCTGCCAGAAGTAAGAAGTGGGTTGTGTCAGACACAAGGGATCTTTTCCTGCTAGATTCTGTTCCTCTCTCTGCCATCTGAAAACACCCAAAACACCACATTCCCTCCCATTTCTTTCTCCCTGGAGTACAAAATGGCAAGGGTCAAATTGCTTCTTCTGATCTTTAAATGTGGAAGAGTGCGTTTCTCTTATGAGAAATGCCTTGCTTGGGTTTAAGAATATAATATAGACACATTTTGATCATTTTTATACCAATGATTTAGAAATATTGTTGGAAAATAGGTCAGAGAGCTTGTGGTTTAAACTAAAATTAAATTCTTCCAAAGTTTCCTAGTGAGTGATTGGTTAGTGGCTTAATGATAACTTTATGTATTTTTGGTTTTCTTTTCACTAGTCTGCTGCTGTGAAGGAGATACTGAAGGAGCAGGAAAACCGGAAGGGCCTGATAGCCGCCATCTGTGCAGGTGACGTGCAGGGGCAGCCTGTGTTGCAGCGTCATTGGTGGGTGGGGTAGCCTTTCATTCGATGGTTTGATTCCAAATAGCTCTTCCCCTTCATAAAGCATGCAGGGCATCTGTGTTGGTGTATTTAGTTTGGGTGGCATGAAGTTGGTGTCATTTCAGAGATGAGGACAATTGTTCTGTTTTCTGCCTCTCCATGCCTTTGGTCTACATGCTGTGAAACTTAGTGTTTTCCGTGTTTGGTTGACCTCGGAGGAAAATAAGGCCCTCTGGAATTCAGTAAACAGCTTGTTACAGCAAGTCTCTGTGCCAGAAAGTCTTTGTGCCAGCACACAATCAGCAAAATCCATCAAACATCAACACAGCAGCTCTGTCCTGTGCTTGCCCTGCAAATTCAGAAGCCCCCATGGTGCTTTCCGCTGGCTTCTCGGGCGTTTCTGATTGTCTCAGTACCGAGTGATCTTGGGCACCGCATTATCTGCCACATAATTTA	CTGTTGGTGTAGTAAACAAGGGAGTGCAGGTGTCTCTTCAGTATACTGATTTCCTTTCCATTGGATACATGCCAAGTAGTGGGATTGCTGGACCATATGGTAGTTCCATTTACTGTAGTTTTTTAAGGAAGTGGTTACCTTTTGTGTGTTTTTATTTTTCAGTGCAGATTCTAAAAGGAGTAAAATAAATTCTATACTTTACACATTTTCTTTTGAGTTTTGAGCTTTGCTTGGTTTTGAATCAACGGTAGGATGTTTATGGTCTTAAAAGTGATTCTAAGCCAGCCATAGTGGTTCACACCTGAAATCCTAGCACTTTGTGAGGCTGAGGCAGGAGGATTACCTGAGCCCAGGAGTTTTGAGACTAGCCTGGGCAATGAAGCGAGACCCTGTCTCTACAAAAATAAAAAAAATTAGCTGGCTGTGGTGGTGCATGCCTGTAGTCCTAGCTCCTGCAGAGGCTGAAGTGGGAGAGTTGCTTGAGCCCAGGAGTTCAAGGCTGTAGTGAGCCACGATTGCATCACTGCACTCTAGCCTGGGTGACAGAGGTGAGGGCTTCTCTCTAAAAAAATTTTATAGGTTGCACTAAATACATAATACATTTTTATTTTGTAATTTGTTTAATGACTAGATTTTTTTTAACCACTTTTTAAAGTACTAAAGTATTGTTGGCCGGCCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGTATCACGAGGTCAGGAGTTTGAGACCAGCCTGGTCAAGAGGGTGAAACCCCATCTTTACTAAAAATACACAGATTAGCCGGGCACAGTGGTGGGTACCTGTAATCCCAGTTGCTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCGGGAGACGGAAGTTGCAGTGAGCTGAGATCACTGCACTCTAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAATAAATAAATAAATAAAAAGTCCTAAAGTATTGTTAAAACAATTTCCGTTTTGTAATTTCAGGAAGTTTGAAATTAATTTGATTTCTAGGATTTTTTGGGGGGGATACTAAAATTCTCCCCCCGTTACATTTTTCATAAAGTTAAGAAAAATTTTTTGTGCCTTTTACTTAAAATTTGTTTCTCTATTAATTTTATTTGTTTTTTTAGACAGAGTCTTGCTCTGTTGCCCAGGCTAGAGTGCGGTGGTGCAGCCTCAGCTCACTGCAGCCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAACCCCCCAAGTAGATGGGACCACAGGTGTGCACCACCACACCCAGCTAATTTTCATATTTTTAGTAGAAATGGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGTAATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCAGTGTGCCCAGCCTGTTTTTCTATTAATTTTTTAAGTTGTTCATGTACATTCTTGTTGAACAATAATTCAAACAATATAGACACATATAAAGTCAAAATGTTAAATGTCCTGTTCTCATTCTCCCTCTGCCCCATCCCACACTACTCCCATTAGCAACTAGAGTGTCTTCCTTTGTCTGTGACTACCTGTATACAGAATATGTGGGGTGGGGTGCTTGTGGTGATTGTACACATACACGCATACATCTACACACAAATACATATATCCTTGTCTTTTACAGGAAGGAGATTATACTACCCCTGCTACTCTGCAGCGTGGACATCCTTGCATGTCACTACATACAGGTTTTCTGCATTTTTTGCTAGTTAAAACACCATTCCGTCATGTGGATACACCTTAATTTATTTAACTGTTCTATTGGCAGATAGGCTATCTCCTGTACTTCCCACATTTAAAATAGGAAAGTATTATTGGACTGTCAATTTAATGCACAGTTGAAATGAAATGTTTTTGTTTTCTTTATGTTTTAAACTGTTACAGGGACCATATGATGTGGTGGTTCTACCAGGAGGTAATCTGGGCGCACAGAATTTATCTGAGGTAAAAAAATTCTACTCAATTATACCTCAATAAAGCTGGGGGGGGGGAAAAACTAAAGAATTTCAGCATCTGCTTATGTTCTGTTAATTTTGTTATTATTCAAATATTTCGGGAGGAGGCTGTGAAAAAAAAATAGAAACAACTAAAATTAACAAAATGGTGTTATAGCATTAACTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCTGAGTAGCTGGGATTGCAGGCATGCACCCCCATGCCCTGCTAATTTTTATATTTTTATTAGAGACGGGGTTTCACCATGTTGGCCAGTCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCACTCCCGACCTCAAGAAAACATTTTTAATATTTTCTATGGAGGTCAGGTGCAGTGGCTCAACGTCTATAATCCCAGTGGTTTGGGAGGCTGAGACAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTAAGTAACACATCGAGACGCCATCTCTACAAAAAATTTTCTTTTAATTAGCTGGGCACGGTGGTGCACACTTGTAGTCCCAGCTACTCGGGAGGCTATGGTGGGAGGATGACTTGAGGCCAGGGATTTGAGGCTGCAGTGAGCTGTGAATGCACCACTGCATTCTAGCCTGGGCAACAAAGCAAGAACCTGTCTTATCAGAAAAAAAAAATGTTGCCATGGAAGTAAGCTGAATTGGTGGGACCGTTATGAACAGATGTCGATGAATACAGTCCAAAGTAAGATGATTTGGTTTTTTTCCACCAGCAGAAGAATGATCAGATTTTGTGTTTTGAGAAGGGCAAATTGTCTACTCAAAGTCTTAACTGGGGGAAGCTGTGGGGCTAGGGCTGCCAGCAGGAATGGCAAATGCCATCAGCAGAGACCATTGTTCCTCATTTTAAGTCGTATGTGAGGAGTCAGAGGCCAGGGTGAGGGGCACACCTGCAGGCAGAGTTGGGGCTGCCAGAAGTAAGAAGTGGGTTGTGTCAGACACAAGGGATCTTTTCCTGCTAGATTCTGTTCCTCTCTCTGCCATCTGAAAACACCCAAAACACCACATTCCCTCCCATTTCTTTCTCCCTGGAGTACAAAATGGCAAGGGTCAAATTGCTTCTTCTGATCTTTAAATGTGGAAGAGTGCGTTTCTCTTATGAGAAATGCCTTGCTTGGGTTTAAGAATATAATATAGACACATTTTGATCATTTTTATACCAATGATTTAGAAATATTGTTGGAAAATAGGTCAGAGAGCTTGTGGTTTAAACTAAAATTAAATTCTTCCAAAGTTTCCTAGTGAGTGATTGGTTAGTGGCTTAATGATAACTTTATGTATTTTTGGTTTTCTTTTCACTAGTCTGCTGCTGTGAAGGAGATACTGAAGGAGCAGGAAAACCGGAAGGGCCTGATAGCCGCCATCTGTGCAGGTGACGTGCAGGGGCAGCCTGTGTTGCAGCGTCATTGGTGGGTGGGGTAGCCTTTCATTCGATGGTTTGATTCCAAATAGCTCTTCCCCTTCATAAAGCATGCAGGGCATCTGTGTTGGTGTATTTAGTTTGGGTGGCATGAAGTTGGTGTCATTTCAGAGATGAGGACAATTGTTCTGTTTTCTGCCTCTCCATGCCTTTGGTCTACATGCTGTGAAACTTAGTGTTTTCCGTGTTTGGTTGACCTCGGAGGAAAATAAGGCCCTCTGGAATTCAGTAAACAGCTTGTTACAGCAAGTCTCTGTGCCAGAAAGTCTTTGTGCCAGCACACAATCAGCAAAATCCATCAAACATCAACACAGCAGCTCTGTCCTGTGCTTGCCCTGCAAATTCAGAAGCCCCCATGGTGCTTTCCGCTGGCTTCTCGGGCGTTTCTGATTGTCTCAGTACCGAGTGATCTTGGGCACCGCATTATCTGCCACATAATTT	benign	1,726
A mutation at chromosome position 7984954 on chromosome 1 in gene PARK7 (Parkinsonism associated deglycase): benign or pathogenic? If pathogenic, which disease(s) is it linked to?	pathogenic; ['Autosomal_recessive_early-onset_Parkinson_disease_7']	AGAAGAGGAGAAAGAGTAGAACAAGGTGTAACTGCCTGTGAACGATCAATTGAGATAACTCACTGCCTTCGACCAGCAGTGGCTTGGTTTCTAATGACAGTAAGACAAGTTCCTATAGCCATTGTTAATCTCCTTGGAAAAGAAATGAACACTGTGTGGTTTCAGAAGCTCATTAATATAGCAGAAGCACTCTGCTTCTGTTTGAAGGGAGGTTTTCAGATGAATTTTTCTGCGTGTTCATTGAACAGACGTTTCCTAAGCTCCTCCTTAGTGCCTGGCACTGGGAACAGAAGAAGGAAGAAGAGAAAGCTGTGCCCTCAGGGTGTTCTCAGGTCCGCACTGAGCGGTGGTGACCAGAGCCACCCGCCTGCCTGCGTGGCCGGTGCATCAGGATAGAGCAGGAGTTCACAGAGGAGCTTTGTCACTTCCCCCTCCGCTAAATCTGTTCTGTGGCCCCACATCACTGAGTGGTGTCACCATCATCCAGTCACCTGGGACAGGCAGCTGGGAGTCATCCTTGAAGCCTCCTCACCTAGGCCTTCATTGCAAACCTCCATTTCCTCTGGATCACTGTCACCAGCCTAGTGCAGGCACCACCAGCTTCTACCCAGAGAGCAGGTTCCTTTCCATCTCCTTCTGGTCCCAGCCCAGTCTCTGTGCGAAGGCCAGACCGCAGAGGGCTCCAGGCCCCGTGACATGGAGTTCAGCGTGACCTTCAGGTGCTGGAGAGAGTTGGCAAGGGCTTTCCATGGGGAACTGGCTATGCCCTGCTTTGCACTCTGGACAGTTAGCTTTTGGGTGCTGGGCATGGATCGAAGGGGCGCACAGCCGGAAGGGAGAGCTGTAATCATGCAGAGATCCTTCCCCTTTAAAGCAGGGGACAGGCGAGAAAGGAGATCGAGTCAAGAATGGTGTTTGGTGCCTTTGACCTCACACTTCAGGGGTGCCTCCTGTGTGCCATGGATATCATTGGCCAGACAGGGACTGATGAAGACCCAGCCTTTTTAAAGAGTAAACAATAAACAAGGAAATGAAATGTTCATAGATTGTGATAGATTGTATCAATGCTGCGAGGGCAGTAAATAGAATGCGGTGATAGAGTCAATAGAGGTACCTAATTTGGGGAGGTGGGGGTGGTCACAGATACCCTCTCTGAGGGGTTTTTGTTGATGCTGAAACTGAAGGAGCAAGGAACTGGAAAGAGCTGGTCTCTGGGTGGAGGGAGCAGCCCTTGAGCTCTTCCTGGAGCAGGAGAGAACGTGTTGTATACAGTAAGGGAAGCTCCAGGTGGGAGAGTGATAGGGATGGGTGTGGGGAGGGAGGTTAGGCTCTGTGTGCAGTGGAGAGGCTGGTGACTACCTGCTGTGGAGGGGCAGAGCTCAGGGCATCCATGCTTAAGAGTCCCAGTTTTGGTATTATATTTGCCAAGAAATAGCCAACCGGCGGGCCTGGAGGTGCGGGGATGCGGAAGGAAAGTAGTCCTTGAGAGGGAATGTGGTTTCTACCTGCACACGCACACTCACATGCATACCCGCCTCCATTACGTTGTGCTGTGGTTGTTTTTGAGGCATCAGAGGGTGTGCGTGCCGCCACATGTTGATTGGGGTGGCTTCTGCGTTCAGCGCTGCCGCATCCCTTCACCCTTCCCCGGCACTTCAGAATTGACACTTGAGCTTTGTTGTAAATAGTGATGTGAGTAACTGTCATTCACCGACATCTCCCCCAACACTTAAAGTCTTAGCAGCTGCATTTAACTCACGCATATTTGTTTCATTCTAACAGTGGTTTCTGTCACCCTTTGCTCTGCACAGTTTTAAAAATACCTTTGTAGGGGGCTTCTAAGAGCTTGGAGTGCCTAGTAAATGTTTTTGAATGGTTAGCTACAGTGTTGGGTTTATATGCTGTAATAGTGAATTTAATTGGTAAGTAATCGTCTTTCTCGTCACATAGCCCATTAGGATGTCACCTTTTCTGTTTCTACTTTGCAGGTCATTACACCTACTCTGAGAATCGTGTGGAAAAAGACGGCCTGATTCTTACAAGCCGGGGGCCTGGGACCAGCTTCGAGTTTGCGCTTGCAATTGTTGAAGCCCTGAATGGCAAGGAGGTGGCGGCTCAAGTGAAGGCTCCACTTGTTCTTAAAGACTAGAGCAGCGAACTGCGACGATCACTTAGAGAAACAGGCCGTTAGGAATCCATTCTCACTGTGTTCGCTCTAAACAAAACAGTGGTAGGTTAATGTGTTCAGAAGTCGCTGTCCTTACTACTTTTGCGGAAGTATGGAAGTCACAACTACACAGAGATTTCTCAGCCTACAAATTGTGTCTATACATTTCTAAGCCTTGTTTGCAGAATAAACAGGGCATTTAGCAAACTACTGATTGTTTCTTGTTTTGTCTCTCATTTCTTTTGTGAAATTAAATTCCGTATCACCTTCATTTGCAGCTCTTAACTGTCCATATGGCACTGAAATAAAAGAACAGTGACCACATTTTACACAGCAAGGAGGAAAGGCATACAAACAGAATTTAAGAGGCTTGTGATTTTCTCTGCTTATTAGCTGTGTGTTTTTAATGTGCTATTAAAAAATACCAATGAGGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAAACCGAGCCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGTCTCCATCTCTACAAAAAAATACAAAAACTAGCCAGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTTAGGAGCCTGAGGTGAGAGGATCACTTGAGCCCCAGGGGGTCAAGGCTACAATGAGCTGTGATCACACCACCGCACCCCAGCCTGGGTGTCACAGCGAGACCCTGTCTCCAAAAAAAAAAAAAAGAAAAAAAGTTGGCTGTACTGGTGAATTTTTATACACCAGTTCCTTTTTCCATTATGGAAAGAGTACTTGGATAAAAACTTTTCAAGGTTGGCCCAACATCTCTTTTCCCTTCCCCAGGTAATAGCACCCAGCATTCCTTGTGAACCACCCAGTTCCTCCTGGGCGGGCACATGATCCAGACCCAGCCAATCCGAGCCCTGTTTACCACTGGCCGTGTGACCCAGGTGAGCTCAGTCAGTCCACGAGACTCCATCCGAGGGTCTCATAGCTGCTGGAGTGGCCAAGAGGATATGCTGGCAACCCAGAGCACTGGCAGCCGTCTCGTCACTGCCAGCGAAAGACCTGCTTGGGACGGCTCTCACGCTGTGGGTGGCTGACCCTAGTCCAGAAGGCTGGGCAGATGTTAACTTTTACAATGCAAACACATGTGTAATTGTCTATTTTAGTAAGTGCTTTAACAGATGATAATGCTAAGGGAGAGACGATTTCCATGGTGGGGAGTGGGGAGGGAGGCTTCTGAGGAAGTGACATTTCAGGTGTGAAGTAGGAGCAGTGCTTAGGCTTTCATTCCTTCCCCAGCTGTGTGCTCAGTCAGTACCTACTGTGTGCCAAGTGCTGTTCCTGCTGCTGGGAATACGCCAGGGAGAAACACAGCCTTTGTCCTTGGGGAGCTTATGTTGTGGGTGCCGGGGAGAGATGAAAGCAAATACGAAAATACCCACATTCTATGAAGAAAATTAAGGAGGGTAAGGAGGCAGTGACAGGGGAATTGCATGATGGGAAGTGAAGGCCTCTCCGAAAAGAGATCTTAGTGGGAATCTGAGGACTTTTGGGTGTGAAAGAGACAAGTAGGTGTCTGTTCAGAGCATACCAGGCAGCAGGAGCAGGGAGTGTAGAGGCCCTGCCGCAGGAGCATTGAGAGGCGGGTTAGAGAAACATGGTAGGAGGTGAAGTTGGAGAGGTAGCCAGGGCCATGGTGAGGTGTCAAGACAGAGACAGAACCACCAGAGAGAGACCTGACCCACCTCGTTCAAAGACTGGCCCTGCAGAGAAGAGACCCTTCTGGAGCAGGCACGCAGGCAGGCGGGATGCTGGGGCCAGTCAGGTGGCAGCATTGGGCACCCACTCAGGGTGTGAGAGGAAGGGCGTCCGGGACAACCCCCACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGA	AGAAGAGGAGAAAGAGTAGAACAAGGTGTAACTGCCTGTGAACGATCAATTGAGATAACTCACTGCCTTCGACCAGCAGTGGCTTGGTTTCTAATGACAGTAAGACAAGTTCCTATAGCCATTGTTAATCTCCTTGGAAAAGAAATGAACACTGTGTGGTTTCAGAAGCTCATTAATATAGCAGAAGCACTCTGCTTCTGTTTGAAGGGAGGTTTTCAGATGAATTTTTCTGCGTGTTCATTGAACAGACGTTTCCTAAGCTCCTCCTTAGTGCCTGGCACTGGGAACAGAAGAAGGAAGAAGAGAAAGCTGTGCCCTCAGGGTGTTCTCAGGTCCGCACTGAGCGGTGGTGACCAGAGCCACCCGCCTGCCTGCGTGGCCGGTGCATCAGGATAGAGCAGGAGTTCACAGAGGAGCTTTGTCACTTCCCCCTCCGCTAAATCTGTTCTGTGGCCCCACATCACTGAGTGGTGTCACCATCATCCAGTCACCTGGGACAGGCAGCTGGGAGTCATCCTTGAAGCCTCCTCACCTAGGCCTTCATTGCAAACCTCCATTTCCTCTGGATCACTGTCACCAGCCTAGTGCAGGCACCACCAGCTTCTACCCAGAGAGCAGGTTCCTTTCCATCTCCTTCTGGTCCCAGCCCAGTCTCTGTGCGAAGGCCAGACCGCAGAGGGCTCCAGGCCCCGTGACATGGAGTTCAGCGTGACCTTCAGGTGCTGGAGAGAGTTGGCAAGGGCTTTCCATGGGGAACTGGCTATGCCCTGCTTTGCACTCTGGACAGTTAGCTTTTGGGTGCTGGGCATGGATCGAAGGGGCGCACAGCCGGAAGGGAGAGCTGTAATCATGCAGAGATCCTTCCCCTTTAAAGCAGGGGACAGGCGAGAAAGGAGATCGAGTCAAGAATGGTGTTTGGTGCCTTTGACCTCACACTTCAGGGGTGCCTCCTGTGTGCCATGGATATCATTGGCCAGACAGGGACTGATGAAGACCCAGCCTTTTTAAAGAGTAAACAATAAACAAGGAAATGAAATGTTCATAGATTGTGATAGATTGTATCAATGCTGCGAGGGCAGTAAATAGAATGCGGTGATAGAGTCAATAGAGGTACCTAATTTGGGGAGGTGGGGGTGGTCACAGATACCCTCTCTGAGGGGTTTTTGTTGATGCTGAAACTGAAGGAGCAAGGAACTGGAAAGAGCTGGTCTCTGGGTGGAGGGAGCAGCCCTTGAGCTCTTCCTGGAGCAGGAGAGAACGTGTTGTATACAGTAAGGGAAGCTCCAGGTGGGAGAGTGATAGGGATGGGTGTGGGGAGGGAGGTTAGGCTCTGTGTGCAGTGGAGAGGCTGGTGACTACCTGCTGTGGAGGGGCAGAGCTCAGGGCATCCATGCTTAAGAGTCCCAGTTTTGGTATTATATTTGCCAAGAAATAGCCAACCGGCGGGCCTGGAGGTGCGGGGATGCGGAAGGAAAGTAGTCCTTGAGAGGGAATGTGGTTTCTACCTGCACACGCACACTCACATGCATACCCGCCTCCATTACGTTGTGCTGTGGTTGTTTTTGAGGCATCAGAGGGTGTGCGTGCCGCCACATGTTGATTGGGGTGGCTTCTGCGTTCAGCGCTGCCGCATCCCTTCACCCTTCCCCGGCACTTCAGAATTGACACTTGAGCTTTGTTGTAAATAGTGATGTGAGTAACTGTCATTCACCGACATCTCCCCCAACACTTAAAGTCTTAGCAGCTGCATTTAACTCACGCATATTTGTTTCATTCTAACAGTGGTTTCTGTCACCCTTTGCTCTGCACAGTTTTAAAAATACCTTTGTAGGGGGCTTCTAAGAGCTTGGAGTGCCTAGTAAATGTTTTTGAATGGTTAGCTACAGTGTTGGGTTTATATGCTGTAATAGTGAATTTAATTGGTAAGTAATCGTCTTTCTCGTCACATAGCCCATTAGGATGTCACCTTTTCTGTTTCTACTTTGCAGGTCATTACACCTACTCTGAGAATCGTGTGGAAAAAGACGGCCTGATTCTTACAAGCCGGGGTGGGACCAGCTTCGAGTTTGCGCTTGCAATTGTTGAAGCCCTGAATGGCAAGGAGGTGGCGGCTCAAGTGAAGGCTCCACTTGTTCTTAAAGACTAGAGCAGCGAACTGCGACGATCACTTAGAGAAACAGGCCGTTAGGAATCCATTCTCACTGTGTTCGCTCTAAACAAAACAGTGGTAGGTTAATGTGTTCAGAAGTCGCTGTCCTTACTACTTTTGCGGAAGTATGGAAGTCACAACTACACAGAGATTTCTCAGCCTACAAATTGTGTCTATACATTTCTAAGCCTTGTTTGCAGAATAAACAGGGCATTTAGCAAACTACTGATTGTTTCTTGTTTTGTCTCTCATTTCTTTTGTGAAATTAAATTCCGTATCACCTTCATTTGCAGCTCTTAACTGTCCATATGGCACTGAAATAAAAGAACAGTGACCACATTTTACACAGCAAGGAGGAAAGGCATACAAACAGAATTTAAGAGGCTTGTGATTTTCTCTGCTTATTAGCTGTGTGTTTTTAATGTGCTATTAAAAAATACCAATGAGGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAAACCGAGCCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGTCTCCATCTCTACAAAAAAATACAAAAACTAGCCAGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTTAGGAGCCTGAGGTGAGAGGATCACTTGAGCCCCAGGGGGTCAAGGCTACAATGAGCTGTGATCACACCACCGCACCCCAGCCTGGGTGTCACAGCGAGACCCTGTCTCCAAAAAAAAAAAAAAGAAAAAAAGTTGGCTGTACTGGTGAATTTTTATACACCAGTTCCTTTTTCCATTATGGAAAGAGTACTTGGATAAAAACTTTTCAAGGTTGGCCCAACATCTCTTTTCCCTTCCCCAGGTAATAGCACCCAGCATTCCTTGTGAACCACCCAGTTCCTCCTGGGCGGGCACATGATCCAGACCCAGCCAATCCGAGCCCTGTTTACCACTGGCCGTGTGACCCAGGTGAGCTCAGTCAGTCCACGAGACTCCATCCGAGGGTCTCATAGCTGCTGGAGTGGCCAAGAGGATATGCTGGCAACCCAGAGCACTGGCAGCCGTCTCGTCACTGCCAGCGAAAGACCTGCTTGGGACGGCTCTCACGCTGTGGGTGGCTGACCCTAGTCCAGAAGGCTGGGCAGATGTTAACTTTTACAATGCAAACACATGTGTAATTGTCTATTTTAGTAAGTGCTTTAACAGATGATAATGCTAAGGGAGAGACGATTTCCATGGTGGGGAGTGGGGAGGGAGGCTTCTGAGGAAGTGACATTTCAGGTGTGAAGTAGGAGCAGTGCTTAGGCTTTCATTCCTTCCCCAGCTGTGTGCTCAGTCAGTACCTACTGTGTGCCAAGTGCTGTTCCTGCTGCTGGGAATACGCCAGGGAGAAACACAGCCTTTGTCCTTGGGGAGCTTATGTTGTGGGTGCCGGGGAGAGATGAAAGCAAATACGAAAATACCCACATTCTATGAAGAAAATTAAGGAGGGTAAGGAGGCAGTGACAGGGGAATTGCATGATGGGAAGTGAAGGCCTCTCCGAAAAGAGATCTTAGTGGGAATCTGAGGACTTTTGGGTGTGAAAGAGACAAGTAGGTGTCTGTTCAGAGCATACCAGGCAGCAGGAGCAGGGAGTGTAGAGGCCCTGCCGCAGGAGCATTGAGAGGCGGGTTAGAGAAACATGGTAGGAGGTGAAGTTGGAGAGGTAGCCAGGGCCATGGTGAGGTGTCAAGACAGAGACAGAACCACCAGAGAGAGACCTGACCCACCTCGTTCAAAGACTGGCCCTGCAGAGAAGAGACCCTTCTGGAGCAGGCACGCAGGCAGGCGGGATGCTGGGGCCAGTCAGGTGGCAGCATTGGGCACCCACTCAGGGTGTGAGAGGAAGGGCGTCCGGGACAACCCCCACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGANNN	pathogenic	1,740
Is the genetic mutation found on chromosome 1 at position 8358216, within the gene RERE (arginine-glutamic acid dipeptide repeats), considered benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['CHARGE_syndrome', 'Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart']	CCAGGCGGGTAGGGGAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCC	CCAGGCGGGTAGGGGAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGA	pathogenic	1,763
Variant at chromosome position 8358580, chromosome 1, gene RERE (arginine-glutamic acid dipeptide repeats): benign or pathogenic? If pathogenic, what condition(s) does it relate to?	benign	GACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCA	GACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCANNNNNNNNNNNNNNN	benign	1,776
Is the genetic variant on chromosome 1, position 8358802, gene RERE (arginine-glutamic acid dipeptide repeats), benign or pathogenic? If pathogenic, what disease(s) is indicated?	pathogenic; ['Neurodevelopmental_disorder']	AATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTC	AATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCN	pathogenic	1,783
The chromosome 1, position 8359782 genetic variant in gene RERE (arginine-glutamic acid dipeptide repeats): benign or pathogenic? If pathogenic, indicate disease(s).	benign	CGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGC	CGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCNNNNNN	benign	1,788
Is the genetic variant on chromosome 1, position 8359782, gene RERE (arginine-glutamic acid dipeptide repeats), benign or pathogenic? If pathogenic, what disease(s) is indicated?	benign	CGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGC	CGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCNNNNNNNNNNNN	benign	1,789
Determine whether the variant at chromosome 1, position 8359794, in gene RERE (arginine-glutamic acid dipeptide repeats) is benign or pathogenic. If pathogenic, identify the relevant disease(s).	benign	CCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTA	CCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGT	benign	1,791
Is the variant located on chromosome 1 at position 8359808, gene RERE (arginine-glutamic acid dipeptide repeats), benign or pathogenic? If pathogenic, specify the disease(s) linked.	benign	AGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAGAGGGGA	AGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAG	benign	1,792
Evaluate the clinical significance of the mutation at chromosome 1, position 8359808 in gene RERE (arginine-glutamic acid dipeptide repeats): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	benign	AGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAGAGGGGA	AGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAGAGGGGANNNNNN	benign	1,793
Is the genetic mutation found on chromosome 1 at position 8361046, within the gene RERE (arginine-glutamic acid dipeptide repeats), considered benign or pathogenic? If pathogenic, specify the associated disease(s).	benign	TCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAGAGGGGAAGAGGCTTCCTCCTTCACCTTCTGCAGGGGAAAAGCCCACAAGGAGCAATCAGGCCAAGGGAGACCATCCCATCAGCCTCAGCAAGGAAATGACGGTTTGCAGACACTTTGCTCCCTCATTCTGAGTTCCATCTCCAGGAGCAAAAAGCTCTAGAAGGGTCAACTGGGGCCAAGAAGGAACACGTATCTGGGGGTGGGAATGAGAGCCAGCCCTCTGCACCTGTGGGTTTGCATCCTCAGATTCAAGCAACCATGGACTGAAAATGTAGGCAGGACTGTGATGGTTACATCTATACTGAACGTGCACACAATGTTTTCTTGTCATTATCTCCTGAACTAGACAGTGGAACCACTGTTTAAACTGCATTTACATTGCACTGGGCAGTAGAAGTAACCTAGGGATGATTTAGAGTCTACAGGAGGATGTGACTGGTCACATGCAAACCATGTGTCGATGTATATGAGATTTGAGCACCTGTGGATTTTGGTATCCTGGGCGGTGGAGGCTCTGGAGCCAATCTCTAATGGATACCAAGGGAGGACTGTACTTGGCTCTGGAGGGAGCCGTTCTAACCACTCCCCACACTTTCTGAGAACTTGGGAAGCTTGAGGCAGAGGTGGCCCCCAAGAGTTGGTGCTCGAGCCCCCTTCTCTAGGCCCCCAGCCTTCGGTCTGCAGCCCCTAGGCCAGGACAATGCTGGTGTCCAGACAGGCTCCATGAATGAGCTGCATCCTCGTGTCTGAGGGAGCTGATCACGAATACCAGCAAACCAGTTTTAATGTGAGGGAGGGACAGAGTAGGCCCTACTATCCCCCCAGCACCTGACCTTGGCCGACTTCTTCACTGTCTCTGCTTTACTGTCATTGCTGGAGGTACTGGCAGCGCTGGGGGAGTTCCGGCCGCTGGAGCGGATGTCTTCATTGATGGGTGAGGTGCGACCATCAGGGCTGGCTGGCTGCTTCTTCCGACCACTGCGTAGTGTCGACATCTGCCCACCCAAACCGAAGACTGGTGACACCAGATTCCCAGTCCCCATGTGGACCCACCTGAGCCCAACCCACAGGCAGAAGCCTGAAGGCACACCCTATCAGCCTCTCAGCAAATCCCAGACCTTGGCAAACAACAGGCCGCCCTGCCTGTCCCTGGCTGCATGAAGGTCGGTGTGGAGCTCAGGGAAGAGGTGGGGAAATCAGTGGGCTCACGCCAGAGGGCGGTTCTCAAACCTAAAGCACTCATC	TCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAGAGGGGAAGAGGCTTCCTCCTTCACCTTCTGCAGGGGAAAAGCCCACAAGGAGCAATCAGGCCAAGGGAGACCATCCCATCAGCCTCAGCAAGGAAATGACGGTTTGCAGACACTTTGCTCCCTCATTCTGAGTTCCATCTCCAGGAGCAAAAAGCTCTAGAAGGGTCAACTGGGGCCAAGAAGGAACACGTATCTGGGGGTGGGAATGAGAGCCAGCCCTCTGCACCTGTGGGTTTGCATCCTCAGATTCAAGCAACCATGGACTGAAAATGTAGGCAGGACTGTGATGGTTACATCTATACTGAACGTGCACACAATGTTTTCTTGTCATTATCTCCTGAACTAGACAGTGGAACCACTGTTTAAACTGCATTTACATTGCACTGGGCAGTAGAAGTAACCTAGGGATGATTTAGAGTCTACAGGAGGATGTGACTGGTCACATGCAAACCATGTGTCGATGTATATGAGATTTGAGCACCTGTGGATTTTGGTATCCTGGGCGGTGGAGGCTCTGGAGCCAATCTCTAATGGATACCAAGGGAGGACTGTACTTGGCTCTGGAGGGAGCCGTTCTAACCACTCCCCACACTTTCTGAGAACTTGGGAAGCTTGAGGCAGAGGTGGCCCCCAAGAGTTGGTGCTCGAGCCCCCTTCTCTAGGCCCCCAGCCTTCGGTCTGCAGCCCCTAGGCCAGGACAATGCTGGTGTCCAGACAGGCTCCATGAATGAGCTGCATCCTCGTGTCTGAGGGAGCTGATCACGAATACCAGCAAACCAGTTTTAATGTGAGGGAGGGACAGAGTAGGCCCTACTATCCCCCCAGCACCTGACCTTGGCCGACTTCTTCACTGTCTCTGCTTTACTGTCATTGCTGGAGGTACTGGCAGCGCTGGGGGAGTTCCGGCCGCTGGAGCGGATGTCTTCATTGATGGGTGAGGTGCGACCATCAGGGCTGGCTGGCTGCTTCTTCCGACCACTGCGTAGTGTCGACATCTGCCCACCCAAACCGAAGACTGGTGACACCAGATTCCCAGTCCCCATGTGGACCCACCTGAGCCCAACCCACAGGCAGAAGCCTGAAGGCACACCCTATCAGCCTCTCAGCAAATCCCAGACCTTGGCAAACAACAGGCCGCCCTGCCTGTCCCTGGCTGCATGAAGGTCGGTGTGGAGCTCAGGGAAGAGGTGGGGAAATCAGTGGGCTCACGCCAGAGGGCGGTTCTCAAACCTAAAGCACTCATCNNNNNNNNNNNN	benign	1,807
The chromosome 1, position 8614630 genetic variant in gene RERE (arginine-glutamic acid dipeptide repeats): benign or pathogenic? If pathogenic, indicate disease(s).	pathogenic; ['Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart']	TATAAAAAGTTTACAAAAAAATTAATGTTATTATGGGGAAGACTTAAAATCCATTCAGCAATTCCTGTTGAGTATTACAGTAAATAAAAGTATTAATAATAGCATCCACATTGATTAAGAAAATATCAGCCTGAAAGTAAAACCTACTTTTTAGATATATGTGGAAATAAGACATATCGGTAAATAAGACATATTGGTAATTGCTAAAGGCTGAAGCTTTAGAAGTAGGTAGTCACATTGGGAATCTACTAATTTGTCCCGTAAGATGTCAGTCTTTCTCTGGGAATTAAAATTAGACTTTTATCTATACTACACTGGGTTCTGTCTTCCACTGTAAGACAGAGAATTCCAAGGTTTCCATAATGTGAAACCCCCATCCCTTTTTTTGGTATGACCCTTGAGTAATTACATCAGCAAATATGTAAACGTGTTATGCTGTTGCAACAATTACTCCTGATTTGGTTACAATTATCAATATATCATCTCTACTGTCTTGGTCCTCTTCATCTTACCCATGAATGGCGGCCCTAGCCTTCTACTTGGAATTTTCACCATCTTTCCCCGTTCCACACTGCAAACTGCTACAGTCAATCTTCTTAAGCAGTGGCCTGCAAGATGGCTTGCCTAGAGTAAAAAAGCTTACACAGGCTCTCTACTGCCTATTACACAAAATCTTAACTTTGCTAACTTTGAAGATCCTCTATAATCTAGCCCCATTTATATCTCCACATCTGCCTCCCAAAATCCACTAACCTGTGCTCTTCAGTGACGTCCTGCGGGTCATCTTCTCACAACTCCCAGACTCGTCAGCCTCACTGCCTGCGTTGCTTATAAGGACAGGCTGCCATGTACACCTGGAAGGCTCCTACACTCTGCCTATCCACTTCTTATTGATGTATGAAAAACATACCCAGCTCCTCAAAACCTACCCACCCTCACAGAACTTCCCCAAGTGCCACAGCCCATCTGGAGCACTTTCTTTTCTACGACCCAAGATATTAATATTCTACACTGCAGCTGAACAACTCACCATATATTGACAGTATCTTGCATTGTGTGTGTCTAAGTGTGAGAGAGCTTGCTATCCTCTTGTATTATTTGCTAATTCAGTATGAACTGGGGCACCACAGTCACTTCTTTACACTGACGTCAATGTAACTGCAACTACACTTCTTTCATATTAACCCACTAGTCATTCAGAATAATAAATACTCGACTTTCAGAAAACACTACCATTAAATCCTCCATTAAGTCCTACCATTACAGGAAAAAAAAGGAAGACAAGTGTGAACTTTCCTAAAAAAAGGGAGATGTACTAAACGATAATAACCCCTATGATCACCCACATGGGTCCCTGTGTTTTAAGGGATAAAGCACTACAGATACTTCATCCTGCTGCCTCTTACACATCCCTCAGGACCACCACTAGTAACAGAGGAATAACCAAGGGATAGCCGTTAAGAAGTATAGCTACAGCCCGACCCAAGCCTCTTGAAGGGCATATTCTGCATCTAGCACTGGAGAAAAGCCTCGCTATTTCTGAGCAATACCCTACAAAATGTCACCCGAGAGGACAACACCCAAAATAGTTTAGATTGGTGGGCCATGAGTCCCAATGAGCCTGGGGAAACGCACATTCCACACTTGAGCTCAAACTTACCCCCTTTTTTCCCCATTTCAGTTGCCAACATCCATACTCGCTGCTGATTGCCAGCTCCTGCTCCTTGCAGCAGCCCAGCATGCTCTCTGCTGGTGCCAAAATACCCTTCCACCAAACCCCGCTAACTTCTGGAACTGTCCTAGAGGGGTAAGGCAAGTCCCGTATTTTGCTTCCTCTGTGCATGTACTTGTTACTCCTTTAAAAACACATATAATACAGCACATTTTAAAAGGGGCTCTGGGGAGGGAGGTAATATTCCTATTTTATACCCTATGGGATATAAAATACTGATAGCTTTTAAAAACGGGATTCTCCTTACCCCTACAGGCCCTCTCCCGGCTTCAGAAAGATGCTGTGGTGGCTGTGATGCCACCGGCAGAGAGCATGCTGGGGGGTCACACAAAGCAGGAGTTGGAGATCTGCAACAGGCCTGGGAGTTGTGGACCTAAAAAAGAAAACAGTTTTAAGTTAACGTGCCCAACGCCCCATCATGCCCTGGTTATTAGGGGCACGCAGCACACAAGTCGGTATCTGCAAAAACTCTTTAGCAGATGACCTCTGAAACCTCAGATAATTTGTTCTACCACTAAAGTTAACCTTTTTGCATTAATCAAAGCTGTTACCTTATTTCAGTGTGAACAAACGTATGACCCTTCTGGCTCCACACTTTAATCCAGGTCCTATCATAAAGCAGTATGGTGTGTGCCCCTCAAAATAACCAAGTTAAGATGTGAGATAGTGCCAAAGCACAGTTAACAGCAACATGCTATGCTTATAATAAAAACAGAAATGCAATGGTGTCAGATACAACCGTAAAATGAATCACAAGTGGACAAACTGAGCTTTCAGAAGAGTTTCTAATGACAGAAGCTAGAGACATAAGACATGTACTTAATAAGGAAATAGGGCATTTGGGTGGCCAAAGAAAGGCCCTGCCATTTTCTCAAAGTTCAAGTTTAACTGTATAAAGCTGAAGGCAAAGTAAATAGACAAAGGCCCCAAAACAGAGGGAAAAAGACAATATTCACATGAGTTATAATTTTCTCCAAACGCCCACAAGGTGAGTATAATGAATAGGCACAGAGCATAAAGTTCCAGAAAGACATTACTTATTTTTATAGGCAAAACTAGTTTAGTATGTATCACGTGTCTTTTTAAAATTAACTTTGAAAACATTTAAAAACCAGGAAAAAAAAGACTATAGAGCAACTTCTGAAAGCTAGCACAGTATACCTCAGATAACAGTTTGAGTATGTTCCTTTTCAAATATTTTAGACAGCACATAACATTTTTAAACCAATTTCATGTGGTTTTGAATGAACTAAAAAAAATCCATAAAATCCCAATACTTATATAAGAACCTGTCTTACGGTTGTCTAAAAATTACAGATGAACAACCTTTTAATATTAGATCATTATTAGGGTGTCCTGTTACACATAATTCCCTTTGAAAAGCAAAGAGCAATTAACAACTTTCTGTAAACAAAGATTTTAATATATTTCATTATCTATTTTTGTAAGTCTCTTAAGCTCCCTACACATAGACACACACACACACACACAAAACAAAACAAATACCAGGAAAATAAGCTAATGTTCAGAATGTTTTATCATGATCATTTTCTTTTCTTTTTCTAAAGATGACCATCTAGAGTACATCCTGGGATCTACACTAAAATTTCTGTGCAGTCAGTCTCTGATTCTCATGGCCTCAGTGATAGTATAGCTGACAGAGTGTCAGTAGCCACAACCTTCTCACCACACACCTTCTCCCCACCATCACCAACACTGCAAACTCCAAATTAAAGATTCAATTGTGCACTTGAATGTACAGCATATTCAATATTTTTTGCCAGAAGCATCAAAATAAAAATGGACTTCTGGATAATCTCTTCCACTAGGAATATGACTGCCCAAACCACTCAAATCCTTACATTCAAATTAAGGGTTTTAAATCAAAAACACCTGGTAAAGCATTTCCAGACACTTTGGCATTATTTTAAACATGCAAATAGTTCAAGTAATTATTAAAACATTTTATATATTTTAAAGAGGCATTTTTTCAAAACAAGTCATTGTTCTCACATACGAAATGAGAAAACTTTGACAGTATCTGTTTCCCTAATTTTTTTTTAGTACTTCTAACAGGTTTTTCTTGGACTATTGAGTTGGTTCTTAATGCAAGCATCCATATATACATACAAATTACAAATTTCCAATTGAAAAGAATTAAGTTTGAACAAGACTTTACCAATATTCTTGCACAGTAGATGGCTGCAAATATCAGATTGTCTCAACCTTTCTTAAGCTCCTTTAAAATTAGAATACCTAGAGTTTTCTGCATTGAAAAAAATTTCACATATAGATAACAATTTTAGTAAATAACATTTTCAGAAATATATTTTATGGAAATATATATAATTAAACAAAACTTTT	TATAAAAAGTTTACAAAAAAATTAATGTTATTATGGGGAAGACTTAAAATCCATTCAGCAATTCCTGTTGAGTATTACAGTAAATAAAAGTATTAATAATAGCATCCACATTGATTAAGAAAATATCAGCCTGAAAGTAAAACCTACTTTTTAGATATATGTGGAAATAAGACATATCGGTAAATAAGACATATTGGTAATTGCTAAAGGCTGAAGCTTTAGAAGTAGGTAGTCACATTGGGAATCTACTAATTTGTCCCGTAAGATGTCAGTCTTTCTCTGGGAATTAAAATTAGACTTTTATCTATACTACACTGGGTTCTGTCTTCCACTGTAAGACAGAGAATTCCAAGGTTTCCATAATGTGAAACCCCCATCCCTTTTTTTGGTATGACCCTTGAGTAATTACATCAGCAAATATGTAAACGTGTTATGCTGTTGCAACAATTACTCCTGATTTGGTTACAATTATCAATATATCATCTCTACTGTCTTGGTCCTCTTCATCTTACCCATGAATGGCGGCCCTAGCCTTCTACTTGGAATTTTCACCATCTTTCCCCGTTCCACACTGCAAACTGCTACAGTCAATCTTCTTAAGCAGTGGCCTGCAAGATGGCTTGCCTAGAGTAAAAAAGCTTACACAGGCTCTCTACTGCCTATTACACAAAATCTTAACTTTGCTAACTTTGAAGATCCTCTATAATCTAGCCCCATTTATATCTCCACATCTGCCTCCCAAAATCCACTAACCTGTGCTCTTCAGTGACGTCCTGCGGGTCATCTTCTCACAACTCCCAGACTCGTCAGCCTCACTGCCTGCGTTGCTTATAAGGACAGGCTGCCATGTACACCTGGAAGGCTCCTACACTCTGCCTATCCACTTCTTATTGATGTATGAAAAACATACCCAGCTCCTCAAAACCTACCCACCCTCACAGAACTTCCCCAAGTGCCACAGCCCATCTGGAGCACTTTCTTTTCTACGACCCAAGATATTAATATTCTACACTGCAGCTGAACAACTCACCATATATTGACAGTATCTTGCATTGTGTGTGTCTAAGTGTGAGAGAGCTTGCTATCCTCTTGTATTATTTGCTAATTCAGTATGAACTGGGGCACCACAGTCACTTCTTTACACTGACGTCAATGTAACTGCAACTACACTTCTTTCATATTAACCCACTAGTCATTCAGAATAATAAATACTCGACTTTCAGAAAACACTACCATTAAATCCTCCATTAAGTCCTACCATTACAGGAAAAAAAAGGAAGACAAGTGTGAACTTTCCTAAAAAAAGGGAGATGTACTAAACGATAATAACCCCTATGATCACCCACATGGGTCCCTGTGTTTTAAGGGATAAAGCACTACAGATACTTCATCCTGCTGCCTCTTACACATCCCTCAGGACCACCACTAGTAACAGAGGAATAACCAAGGGATAGCCGTTAAGAAGTATAGCTACAGCCCGACCCAAGCCTCTTGAAGGGCATATTCTGCATCTAGCACTGGAGAAAAGCCTCGCTATTTCTGAGCAATACCCTACAAAATGTCACCCGAGAGGACAACACCCAAAATAGTTTAGATTGGTGGGCCATGAGTCCCAATGAGCCTGGGGAAACGCACATTCCACACTTGAGCTCAAACTTACCCCCTTTTTTCCCCATTTCAGTTGCCAACATCCATACTCGCTGCTGATTGCCAGCTCCTGCTCCTTGCAGCAGCCCAGCATGCTCTCTGCTGGTGCCAAAATACCCTTCCACCAAACCCCGCTAACTTCTGGAACTGTCCTAGAGGGGTAAGGCAAGTCCCGTATTTTGCTTCCTCTGTGCATGTACTTGTTACTCCTTTAAAAACACATATAATACAGCACATTTTAAAAGGGGCTCTGGGGAGGGAGGTAATATTCCTATTTTATACCCTATGGGATATAAAATACTGATAGCTTTTAAAAACGGGATTCTCCTTACCCCTACAGGCCCTCTCCCGGCTTCAGAAAGATGCTGTGGTGGCTGTGATGCCACCGGCAGAGAGCATGCTGGGGGGGTCACACAAAGCAGGAGTTGGAGATCTGCAACAGGCCTGGGAGTTGTGGACCTAAAAAAGAAAACAGTTTTAAGTTAACGTGCCCAACGCCCCATCATGCCCTGGTTATTAGGGGCACGCAGCACACAAGTCGGTATCTGCAAAAACTCTTTAGCAGATGACCTCTGAAACCTCAGATAATTTGTTCTACCACTAAAGTTAACCTTTTTGCATTAATCAAAGCTGTTACCTTATTTCAGTGTGAACAAACGTATGACCCTTCTGGCTCCACACTTTAATCCAGGTCCTATCATAAAGCAGTATGGTGTGTGCCCCTCAAAATAACCAAGTTAAGATGTGAGATAGTGCCAAAGCACAGTTAACAGCAACATGCTATGCTTATAATAAAAACAGAAATGCAATGGTGTCAGATACAACCGTAAAATGAATCACAAGTGGACAAACTGAGCTTTCAGAAGAGTTTCTAATGACAGAAGCTAGAGACATAAGACATGTACTTAATAAGGAAATAGGGCATTTGGGTGGCCAAAGAAAGGCCCTGCCATTTTCTCAAAGTTCAAGTTTAACTGTATAAAGCTGAAGGCAAAGTAAATAGACAAAGGCCCCAAAACAGAGGGAAAAAGACAATATTCACATGAGTTATAATTTTCTCCAAACGCCCACAAGGTGAGTATAATGAATAGGCACAGAGCATAAAGTTCCAGAAAGACATTACTTATTTTTATAGGCAAAACTAGTTTAGTATGTATCACGTGTCTTTTTAAAATTAACTTTGAAAACATTTAAAAACCAGGAAAAAAAAGACTATAGAGCAACTTCTGAAAGCTAGCACAGTATACCTCAGATAACAGTTTGAGTATGTTCCTTTTCAAATATTTTAGACAGCACATAACATTTTTAAACCAATTTCATGTGGTTTTGAATGAACTAAAAAAAATCCATAAAATCCCAATACTTATATAAGAACCTGTCTTACGGTTGTCTAAAAATTACAGATGAACAACCTTTTAATATTAGATCATTATTAGGGTGTCCTGTTACACATAATTCCCTTTGAAAAGCAAAGAGCAATTAACAACTTTCTGTAAACAAAGATTTTAATATATTTCATTATCTATTTTTGTAAGTCTCTTAAGCTCCCTACACATAGACACACACACACACACACAAAACAAAACAAATACCAGGAAAATAAGCTAATGTTCAGAATGTTTTATCATGATCATTTTCTTTTCTTTTTCTAAAGATGACCATCTAGAGTACATCCTGGGATCTACACTAAAATTTCTGTGCAGTCAGTCTCTGATTCTCATGGCCTCAGTGATAGTATAGCTGACAGAGTGTCAGTAGCCACAACCTTCTCACCACACACCTTCTCCCCACCATCACCAACACTGCAAACTCCAAATTAAAGATTCAATTGTGCACTTGAATGTACAGCATATTCAATATTTTTTGCCAGAAGCATCAAAATAAAAATGGACTTCTGGATAATCTCTTCCACTAGGAATATGACTGCCCAAACCACTCAAATCCTTACATTCAAATTAAGGGTTTTAAATCAAAAACACCTGGTAAAGCATTTCCAGACACTTTGGCATTATTTTAAACATGCAAATAGTTCAAGTAATTATTAAAACATTTTATATATTTTAAAGAGGCATTTTTTCAAAACAAGTCATTGTTCTCACATACGAAATGAGAAAACTTTGACAGTATCTGTTTCCCTAATTTTTTTTTAGTACTTCTAACAGGTTTTTCTTGGACTATTGAGTTGGTTCTTAATGCAAGCATCCATATATACATACAAATTACAAATTTCCAATTGAAAAGAATTAAGTTTGAACAAGACTTTACCAATATTCTTGCACAGTAGATGGCTGCAAATATCAGATTGTCTCAACCTTTCTTAAGCTCCTTTAAAATTAGAATACCTAGAGTTTTCTGCATTGAAAAAAATTTCACATATAGATAACAATTTTAGTAAATAACATTTTCAGAAATATATTTTATGGAAATATATATAATTAAACAAAACTTT	pathogenic	1,832
Located at chromosome 1 position 8656224, the variant affecting gene RERE (arginine-glutamic acid dipeptide repeats)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?	pathogenic; ['Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart']	ACTGCAGTCTCATCACACTCCCAGCTAATTTTTTACTGTTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATCTGCTAATTACATCTCATACAAAATTCATGTCACTCTTCAACAGTAAAAGTAACTCAAACAAAATGATTTCACCTAGGTTTTACTGGCTTCTGTAAGAAAGGATCTTGTTTTGTTTTTTTTTGTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTAGAAAGCAGTGGTGCAATCATGCTTCACTACAGCCTCGACCTCCCAGACTCAAGTGATGCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGTGCCACCAGGCCCAGCTAATTTGTAAAAATTTTTTGTAAAGATGGGGGTCTCACTACGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTTCTGTCTCCGCCTCCCAAAGTGCTGGGATTACACTGTGCCCAGCCTAAAAAAGGTGTCTTAATACACACAATACATCAAATGAAAAGGAAAGGCTTTGCTAGTGTTCAACAGGTTTTGACTCACTTGTTTCCCTGATCTCATCTAAAAGTTGAGTCTGTCTTTTTTTGAGCAATGCTATAAGCCACAATATACTGGTGTGACCATAATACATTTTCTGGAAAACCAAGCAGGTTAGATGACTACTTCTATTATTGTTGATTAGAGAGCCTGAAGCTCAAATTTTTGGAAAAGGAAGTTAGCAGGAGCAATACATCTCTGATCTTCAGGGCTTTTTTTTTTTTCTGAGACGGAGACTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTGACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTAGAGGTGCACACCACCGAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTCACCACCCGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGCGTGAGCCACCATGCCTGGCCTAAAGGCCATTTTTAAAAAGTACCTCTCTAGAGTCTGGTCGATCCTGTCCCAAGGTAAAATTTCCTGTTTCCAAGAATCTTAAGGTTTACTTGTCTCCACCAAGCAGTCAATTCTGCAGGGTCACCACAGTCTCATTTATGATTGAAGATTAAAAAGCAAGCATGAATTCAAAAGACAAAAAAATACTAAGCAGATGGTCCAGTTAGAGAACAAGCAGCACAGGAAAATAAGAAAAGAACTCATGAATGCATAAACCAGGACACAAGAGCAAATTAAGGCAGACACAAGCAAGAAGTGGGTGAACCTAACTGACCAAAAGTGGGTCACATGTTTACCAAATTAAGTTTCCTACTCTTCTAGATTCCAAGCCTTCCTTAAAGTGTACAAAGCGTATTTATTTCACCATAATGCCAAGATCATTCCCCCACTGTAAACATTGGCAAGACCCAAACGTAAGGCTCCTTACCTCCTGGTCTGTAGACCACATCATCTTCAGTGATGTAGGATGTTATCTCACCGGTATCTGTCCTTTCATAACGAGACTTTTTTTTCGGTGGTTTCTTCTTATTCTTCTTCGTGGACTCCTCTGCGGTGGCACTATTGTTGTCATTGTCCTCGTCTTCACTGTGATCACTCTCAGCATAATTTTTGGCTCCTCCTTCCAAGGTACAGCTCCGGCGTGGCCTTGAATTCTCACTCTCTCTTGCTTTGTCTCTTTTCTCTCTCTCTCGGTCCCGGTCTCGGTCCCGGTCCTTCTCTTTGTCTTTGTCTTTGTCTTTGTCCGCTGTCATGATTCGCCACGTGCCTTCTTCTGTCCTCTCACGGCTAGGCCTCCGTGAAAGGTAGACAGTAAGCCTGGGCTTCAGTCTTCTGAATTTCTCACTCAATTCCAGGGAAAATCCAACCACTCCAACAACCCCAACGTTTCAAAAATGCTAGGAGAGAAAAAAGAATGGTTTTAACGCTTTTTCATATTTGTTTCCTAAAATAATGTTTTGTTAAATGAATCTCTTACTTATTCATGCTTTACACCTAAAAACTTCGCACAAGCCACAGGAGAAAAATTAAGTGTTAAAATTTAAAAACTACAGTTTTTGGTCTCAGCAAATGGTTTGGGGTTTTTTATGACACCAATAATAAAAACTGTCTGAATGCCTAAGAGTAAACTACACTTCCTCCACCTTACATGTTTTCTCCTTTTTAAAGAAAAAGCAAACCAATACCCTGGTAGACAACATATAATGGGTATTATTATACAAAAGGAGCTTCATAACTCATAATATTAATTTAAAGAGGAAAGAATCTGTAGTAAAAATTATTTCCAGGCCAGGCACTGCGGCTCATGCCTTGTAATCCCAGCATTTTGAGAGGCCAAGCCAGAAGGACCACTTGAAGCCAGGAGTTCAAGACCAACCCTGGCAACAAAGCGAGATCCCATCTCCAACATAAAATAAAATATTTCTACCTGAAAAAATAGTAATAGTTTGCAGCACTGTCAAAAATGTCTCAGGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGAAGATGGATCACGGGGTCAGGAGATCAAGATCATCCTTGCTAATGTGGTAAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTCAGGAGTCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGTAGTGAGCCGAGATTGTGCCACTGCACTTCAGCCTGGGCGACAGAGCGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAAAAAGTCTCAGGATATCGCATAGAGCACTATATTCTAAAGATATTTTCTGGCTACTTCTACAAACTCCCAGAACTTCCTTCAAGAATAAAAATAATATTTAACTCAAACGAAAGTGAGAGCTTCAGAGCAAGATTTTTCCACCTTCAGTTACATTTTACACATCTTTTCATCCTACCATTTTCAGTTATGTTCCAAGGAAAATGATCTCTCTAAAGATGTATTACTGGCCAGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGGGGATCACGTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCTGTCTCTACTAAACACACAAAAAGTAGCTGGGCACAGTGGCACACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTACAGTGAGCCGAGATCACACCACTGCACTCCAGTCTGGGCAAAAGACTCCATCTCAATAAAGAAAAGAAAATGTATTGTCTCTGCCTTAACAAAACATAACAGCTTCCAGAAACAAGCTTCCATCTTTCGGGAATATTAAGTGGTTTTTACAGTCTTCCAGATTTCTACTATAAATGGTATCCCTAATAAAGTACTCCCCAAAAAGAAACCCAACAAGAAAAGTCTTGAGGTTTTTAAGCGTCTGCAATGGGAAAAGTGAATCCCAAACTCCAAGCTAACACAGTTCTTACAGATATTTTATAGCAGGAAAAAATTTTGTCTTTCTAAGTCAGTTTTGGAATAGACCTAACAATAAATTTATAAATAAATAATTTATCTTTTGTTTTTCTTATGATCTTCCCCAATACCCTATCTCACTTATTCAACAAATCTTTACTAAATACTATGTGCCAAGTGTTAGAACTAAAACCACAATGGAGGAGAAA	ACTGCAGTCTCATCACACTCCCAGCTAATTTTTTACTGTTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATCTGCTAATTACATCTCATACAAAATTCATGTCACTCTTCAACAGTAAAAGTAACTCAAACAAAATGATTTCACCTAGGTTTTACTGGCTTCTGTAAGAAAGGATCTTGTTTTGTTTTTTTTTGTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTAGAAAGCAGTGGTGCAATCATGCTTCACTACAGCCTCGACCTCCCAGACTCAAGTGATGCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGTGCCACCAGGCCCAGCTAATTTGTAAAAATTTTTTGTAAAGATGGGGGTCTCACTACGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTTCTGTCTCCGCCTCCCAAAGTGCTGGGATTACACTGTGCCCAGCCTAAAAAAGGTGTCTTAATACACACAATACATCAAATGAAAAGGAAAGGCTTTGCTAGTGTTCAACAGGTTTTGACTCACTTGTTTCCCTGATCTCATCTAAAAGTTGAGTCTGTCTTTTTTTGAGCAATGCTATAAGCCACAATATACTGGTGTGACCATAATACATTTTCTGGAAAACCAAGCAGGTTAGATGACTACTTCTATTATTGTTGATTAGAGAGCCTGAAGCTCAAATTTTTGGAAAAGGAAGTTAGCAGGAGCAATACATCTCTGATCTTCAGGGCTTTTTTTTTTTTCTGAGACGGAGACTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTGACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTAGAGGTGCACACCACCGAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTCACCACCCGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGCGTGAGCCACCATGCCTGGCCTAAAGGCCATTTTTAAAAAGTACCTCTCTAGAGTCTGGTCGATCCTGTCCCAAGGTAAAATTTCCTGTTTCCAAGAATCTTAAGGTTTACTTGTCTCCACCAAGCAGTCAATTCTGCAGGGTCACCACAGTCTCATTTATGATTGAAGATTAAAAAGCAAGCATGAATTCAAAAGACAAAAAAATACTAAGCAGATGGTCCAGTTAGAGAACAAGCAGCACAGGAAAATAAGAAAAGAACTCATGAATGCATAAACCAGGACACAAGAGCAAATTAAGGCAGACACAAGCAAGAAGTGGGTGAACCTAACTGACCAAAAGTGGGTCACATGTTTACCAAATTAAGTTTCCTACTCTTCTAGATTCCAAGCCTTCCTTAAAGTGTACAAAGCGTATTTATTTCACCATAATGCCAAGATCATTCCCCCACTGTAAACATTGGCAAGACCCAAACGTAAGGCTCCTTACCTCCTGGTCTGTAGACCACATCATCTTCAGTGATGTAGGATGTTATCTCACCGGTATCTGTCCTTTCATAACGAGACTTTTTTTTCGGTGGTTTCTTCTTATTCTTCTTCGTGGACTCCTCTGCGGTGGCACTATTGTTGTCATTGTCCTCGTCTTCACTGTGATCACTCTCAGCATAATTTTTGGCTCCTCCTTCCAAGGTACAGCTCCGGCGTGGCCTTGAATTCTCACTCTCTCTTGCTTTGTCTCTTTTCTCTCTCTCTCTCGGTCCCGGTCTCGGTCCCGGTCCTTCTCTTTGTCTTTGTCTTTGTCTTTGTCCGCTGTCATGATTCGCCACGTGCCTTCTTCTGTCCTCTCACGGCTAGGCCTCCGTGAAAGGTAGACAGTAAGCCTGGGCTTCAGTCTTCTGAATTTCTCACTCAATTCCAGGGAAAATCCAACCACTCCAACAACCCCAACGTTTCAAAAATGCTAGGAGAGAAAAAAGAATGGTTTTAACGCTTTTTCATATTTGTTTCCTAAAATAATGTTTTGTTAAATGAATCTCTTACTTATTCATGCTTTACACCTAAAAACTTCGCACAAGCCACAGGAGAAAAATTAAGTGTTAAAATTTAAAAACTACAGTTTTTGGTCTCAGCAAATGGTTTGGGGTTTTTTATGACACCAATAATAAAAACTGTCTGAATGCCTAAGAGTAAACTACACTTCCTCCACCTTACATGTTTTCTCCTTTTTAAAGAAAAAGCAAACCAATACCCTGGTAGACAACATATAATGGGTATTATTATACAAAAGGAGCTTCATAACTCATAATATTAATTTAAAGAGGAAAGAATCTGTAGTAAAAATTATTTCCAGGCCAGGCACTGCGGCTCATGCCTTGTAATCCCAGCATTTTGAGAGGCCAAGCCAGAAGGACCACTTGAAGCCAGGAGTTCAAGACCAACCCTGGCAACAAAGCGAGATCCCATCTCCAACATAAAATAAAATATTTCTACCTGAAAAAATAGTAATAGTTTGCAGCACTGTCAAAAATGTCTCAGGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGAAGATGGATCACGGGGTCAGGAGATCAAGATCATCCTTGCTAATGTGGTAAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTCAGGAGTCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGTAGTGAGCCGAGATTGTGCCACTGCACTTCAGCCTGGGCGACAGAGCGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAAAAAGTCTCAGGATATCGCATAGAGCACTATATTCTAAAGATATTTTCTGGCTACTTCTACAAACTCCCAGAACTTCCTTCAAGAATAAAAATAATATTTAACTCAAACGAAAGTGAGAGCTTCAGAGCAAGATTTTTCCACCTTCAGTTACATTTTACACATCTTTTCATCCTACCATTTTCAGTTATGTTCCAAGGAAAATGATCTCTCTAAAGATGTATTACTGGCCAGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGGGGATCACGTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCTGTCTCTACTAAACACACAAAAAGTAGCTGGGCACAGTGGCACACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTACAGTGAGCCGAGATCACACCACTGCACTCCAGTCTGGGCAAAAGACTCCATCTCAATAAAGAAAAGAAAATGTATTGTCTCTGCCTTAACAAAACATAACAGCTTCCAGAAACAAGCTTCCATCTTTCGGGAATATTAAGTGGTTTTTACAGTCTTCCAGATTTCTACTATAAATGGTATCCCTAATAAAGTACTCCCCAAAAAGAAACCCAACAAGAAAAGTCTTGAGGTTTTTAAGCGTCTGCAATGGGAAAAGTGAATCCCAAACTCCAAGCTAACACAGTTCTTACAGATATTTTATAGCAGGAAAAAATTTTGTCTTTCTAAGTCAGTTTTGGAATAGACCTAACAATAAATTTATAAATAAATAATTTATCTTTTGTTTTTCTTATGATCTTCCCCAATACCCTATCTCACTTATTCAACAAATCTTTACTAAATACTATGTGCCAAGTGTTAGAACTAAAACCACAATGGAGGAGA	pathogenic	1,838
Clinical classification of chromosome 1, position 8656247, gene RERE (arginine-glutamic acid dipeptide repeats): benign or pathogenic? Disease(s) if pathogenic?	benign	GCTAATTTTTTACTGTTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATCTGCTAATTACATCTCATACAAAATTCATGTCACTCTTCAACAGTAAAAGTAACTCAAACAAAATGATTTCACCTAGGTTTTACTGGCTTCTGTAAGAAAGGATCTTGTTTTGTTTTTTTTTGTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTAGAAAGCAGTGGTGCAATCATGCTTCACTACAGCCTCGACCTCCCAGACTCAAGTGATGCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGTGCCACCAGGCCCAGCTAATTTGTAAAAATTTTTTGTAAAGATGGGGGTCTCACTACGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTTCTGTCTCCGCCTCCCAAAGTGCTGGGATTACACTGTGCCCAGCCTAAAAAAGGTGTCTTAATACACACAATACATCAAATGAAAAGGAAAGGCTTTGCTAGTGTTCAACAGGTTTTGACTCACTTGTTTCCCTGATCTCATCTAAAAGTTGAGTCTGTCTTTTTTTGAGCAATGCTATAAGCCACAATATACTGGTGTGACCATAATACATTTTCTGGAAAACCAAGCAGGTTAGATGACTACTTCTATTATTGTTGATTAGAGAGCCTGAAGCTCAAATTTTTGGAAAAGGAAGTTAGCAGGAGCAATACATCTCTGATCTTCAGGGCTTTTTTTTTTTTCTGAGACGGAGACTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTGACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTAGAGGTGCACACCACCGAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTCACCACCCGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGCGTGAGCCACCATGCCTGGCCTAAAGGCCATTTTTAAAAAGTACCTCTCTAGAGTCTGGTCGATCCTGTCCCAAGGTAAAATTTCCTGTTTCCAAGAATCTTAAGGTTTACTTGTCTCCACCAAGCAGTCAATTCTGCAGGGTCACCACAGTCTCATTTATGATTGAAGATTAAAAAGCAAGCATGAATTCAAAAGACAAAAAAATACTAAGCAGATGGTCCAGTTAGAGAACAAGCAGCACAGGAAAATAAGAAAAGAACTCATGAATGCATAAACCAGGACACAAGAGCAAATTAAGGCAGACACAAGCAAGAAGTGGGTGAACCTAACTGACCAAAAGTGGGTCACATGTTTACCAAATTAAGTTTCCTACTCTTCTAGATTCCAAGCCTTCCTTAAAGTGTACAAAGCGTATTTATTTCACCATAATGCCAAGATCATTCCCCCACTGTAAACATTGGCAAGACCCAAACGTAAGGCTCCTTACCTCCTGGTCTGTAGACCACATCATCTTCAGTGATGTAGGATGTTATCTCACCGGTATCTGTCCTTTCATAACGAGACTTTTTTTTCGGTGGTTTCTTCTTATTCTTCTTCGTGGACTCCTCTGCGGTGGCACTATTGTTGTCATTGTCCTCGTCTTCACTGTGATCACTCTCAGCATAATTTTTGGCTCCTCCTTCCAAGGTACAGCTCCGGCGTGGCCTTGAATTCTCACTCTCTCTTGCTTTGTCTCTTTTCTCTCTCTCTCGGTCCCGGTCTCGGTCCCGGTCCTTCTCTTTGTCTTTGTCTTTGTCTTTGTCCGCTGTCATGATTCGCCACGTGCCTTCTTCTGTCCTCTCACGGCTAGGCCTCCGTGAAAGGTAGACAGTAAGCCTGGGCTTCAGTCTTCTGAATTTCTCACTCAATTCCAGGGAAAATCCAACCACTCCAACAACCCCAACGTTTCAAAAATGCTAGGAGAGAAAAAAGAATGGTTTTAACGCTTTTTCATATTTGTTTCCTAAAATAATGTTTTGTTAAATGAATCTCTTACTTATTCATGCTTTACACCTAAAAACTTCGCACAAGCCACAGGAGAAAAATTAAGTGTTAAAATTTAAAAACTACAGTTTTTGGTCTCAGCAAATGGTTTGGGGTTTTTTATGACACCAATAATAAAAACTGTCTGAATGCCTAAGAGTAAACTACACTTCCTCCACCTTACATGTTTTCTCCTTTTTAAAGAAAAAGCAAACCAATACCCTGGTAGACAACATATAATGGGTATTATTATACAAAAGGAGCTTCATAACTCATAATATTAATTTAAAGAGGAAAGAATCTGTAGTAAAAATTATTTCCAGGCCAGGCACTGCGGCTCATGCCTTGTAATCCCAGCATTTTGAGAGGCCAAGCCAGAAGGACCACTTGAAGCCAGGAGTTCAAGACCAACCCTGGCAACAAAGCGAGATCCCATCTCCAACATAAAATAAAATATTTCTACCTGAAAAAATAGTAATAGTTTGCAGCACTGTCAAAAATGTCTCAGGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGAAGATGGATCACGGGGTCAGGAGATCAAGATCATCCTTGCTAATGTGGTAAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTCAGGAGTCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGTAGTGAGCCGAGATTGTGCCACTGCACTTCAGCCTGGGCGACAGAGCGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAAAAAGTCTCAGGATATCGCATAGAGCACTATATTCTAAAGATATTTTCTGGCTACTTCTACAAACTCCCAGAACTTCCTTCAAGAATAAAAATAATATTTAACTCAAACGAAAGTGAGAGCTTCAGAGCAAGATTTTTCCACCTTCAGTTACATTTTACACATCTTTTCATCCTACCATTTTCAGTTATGTTCCAAGGAAAATGATCTCTCTAAAGATGTATTACTGGCCAGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGGGGATCACGTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCTGTCTCTACTAAACACACAAAAAGTAGCTGGGCACAGTGGCACACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTACAGTGAGCCGAGATCACACCACTGCACTCCAGTCTGGGCAAAAGACTCCATCTCAATAAAGAAAAGAAAATGTATTGTCTCTGCCTTAACAAAACATAACAGCTTCCAGAAACAAGCTTCCATCTTTCGGGAATATTAAGTGGTTTTTACAGTCTTCCAGATTTCTACTATAAATGGTATCCCTAATAAAGTACTCCCCAAAAAGAAACCCAACAAGAAAAGTCTTGAGGTTTTTAAGCGTCTGCAATGGGAAAAGTGAATCCCAAACTCCAAGCTAACACAGTTCTTACAGATATTTTATAGCAGGAAAAAATTTTGTCTTTCTAAGTCAGTTTTGGAATAGACCTAACAATAAATTTATAAATAAATAATTTATCTTTTGTTTTTCTTATGATCTTCCCCAATACCCTATCTCACTTATTCAACAAATCTTTACTAAATACTATGTGCCAAGTGTTAGAACTAAAACCACAATGGAGGAGAAAACTCATGGTCCTTGTTCTCAATG	GCTAATTTTTTACTGTTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATCTGCTAATTACATCTCATACAAAATTCATGTCACTCTTCAACAGTAAAAGTAACTCAAACAAAATGATTTCACCTAGGTTTTACTGGCTTCTGTAAGAAAGGATCTTGTTTTGTTTTTTTTTGTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTAGAAAGCAGTGGTGCAATCATGCTTCACTACAGCCTCGACCTCCCAGACTCAAGTGATGCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGTGCCACCAGGCCCAGCTAATTTGTAAAAATTTTTTGTAAAGATGGGGGTCTCACTACGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTTCTGTCTCCGCCTCCCAAAGTGCTGGGATTACACTGTGCCCAGCCTAAAAAAGGTGTCTTAATACACACAATACATCAAATGAAAAGGAAAGGCTTTGCTAGTGTTCAACAGGTTTTGACTCACTTGTTTCCCTGATCTCATCTAAAAGTTGAGTCTGTCTTTTTTTGAGCAATGCTATAAGCCACAATATACTGGTGTGACCATAATACATTTTCTGGAAAACCAAGCAGGTTAGATGACTACTTCTATTATTGTTGATTAGAGAGCCTGAAGCTCAAATTTTTGGAAAAGGAAGTTAGCAGGAGCAATACATCTCTGATCTTCAGGGCTTTTTTTTTTTTCTGAGACGGAGACTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTGACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTAGAGGTGCACACCACCGAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTCACCACCCGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGCGTGAGCCACCATGCCTGGCCTAAAGGCCATTTTTAAAAAGTACCTCTCTAGAGTCTGGTCGATCCTGTCCCAAGGTAAAATTTCCTGTTTCCAAGAATCTTAAGGTTTACTTGTCTCCACCAAGCAGTCAATTCTGCAGGGTCACCACAGTCTCATTTATGATTGAAGATTAAAAAGCAAGCATGAATTCAAAAGACAAAAAAATACTAAGCAGATGGTCCAGTTAGAGAACAAGCAGCACAGGAAAATAAGAAAAGAACTCATGAATGCATAAACCAGGACACAAGAGCAAATTAAGGCAGACACAAGCAAGAAGTGGGTGAACCTAACTGACCAAAAGTGGGTCACATGTTTACCAAATTAAGTTTCCTACTCTTCTAGATTCCAAGCCTTCCTTAAAGTGTACAAAGCGTATTTATTTCACCATAATGCCAAGATCATTCCCCCACTGTAAACATTGGCAAGACCCAAACGTAAGGCTCCTTACCTCCTGGTCTGTAGACCACATCATCTTCAGTGATGTAGGATGTTATCTCACCGGTATCTGTCCTTTCATAACGAGACTTTTTTTTCGGTGGTTTCTTCTTATTCTTCTTCGTGGACTCCTCTGCGGTGGCACTATTGTTGTCATTGTCCTCGTCTTCACTGTGATCACTCTCAGCATAATTTTTGGCTCCTCCTTCCAAGGTACAGCTCCGGCGTGGCCTTGAATTCTCACTCTCTCTTGCTTTGTCTCTTTTCTCTCTCTCTCGGTCCCGGTCTCGGTCCCGGTCCCGGTCCTTCTCTTTGTCTTTGTCTTTGTCTTTGTCCGCTGTCATGATTCGCCACGTGCCTTCTTCTGTCCTCTCACGGCTAGGCCTCCGTGAAAGGTAGACAGTAAGCCTGGGCTTCAGTCTTCTGAATTTCTCACTCAATTCCAGGGAAAATCCAACCACTCCAACAACCCCAACGTTTCAAAAATGCTAGGAGAGAAAAAAGAATGGTTTTAACGCTTTTTCATATTTGTTTCCTAAAATAATGTTTTGTTAAATGAATCTCTTACTTATTCATGCTTTACACCTAAAAACTTCGCACAAGCCACAGGAGAAAAATTAAGTGTTAAAATTTAAAAACTACAGTTTTTGGTCTCAGCAAATGGTTTGGGGTTTTTTATGACACCAATAATAAAAACTGTCTGAATGCCTAAGAGTAAACTACACTTCCTCCACCTTACATGTTTTCTCCTTTTTAAAGAAAAAGCAAACCAATACCCTGGTAGACAACATATAATGGGTATTATTATACAAAAGGAGCTTCATAACTCATAATATTAATTTAAAGAGGAAAGAATCTGTAGTAAAAATTATTTCCAGGCCAGGCACTGCGGCTCATGCCTTGTAATCCCAGCATTTTGAGAGGCCAAGCCAGAAGGACCACTTGAAGCCAGGAGTTCAAGACCAACCCTGGCAACAAAGCGAGATCCCATCTCCAACATAAAATAAAATATTTCTACCTGAAAAAATAGTAATAGTTTGCAGCACTGTCAAAAATGTCTCAGGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGAAGATGGATCACGGGGTCAGGAGATCAAGATCATCCTTGCTAATGTGGTAAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTCAGGAGTCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGTAGTGAGCCGAGATTGTGCCACTGCACTTCAGCCTGGGCGACAGAGCGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAAAAAGTCTCAGGATATCGCATAGAGCACTATATTCTAAAGATATTTTCTGGCTACTTCTACAAACTCCCAGAACTTCCTTCAAGAATAAAAATAATATTTAACTCAAACGAAAGTGAGAGCTTCAGAGCAAGATTTTTCCACCTTCAGTTACATTTTACACATCTTTTCATCCTACCATTTTCAGTTATGTTCCAAGGAAAATGATCTCTCTAAAGATGTATTACTGGCCAGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGGGGATCACGTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCTGTCTCTACTAAACACACAAAAAGTAGCTGGGCACAGTGGCACACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTACAGTGAGCCGAGATCACACCACTGCACTCCAGTCTGGGCAAAAGACTCCATCTCAATAAAGAAAAGAAAATGTATTGTCTCTGCCTTAACAAAACATAACAGCTTCCAGAAACAAGCTTCCATCTTTCGGGAATATTAAGTGGTTTTTACAGTCTTCCAGATTTCTACTATAAATGGTATCCCTAATAAAGTACTCCCCAAAAAGAAACCCAACAAGAAAAGTCTTGAGGTTTTTAAGCGTCTGCAATGGGAAAAGTGAATCCCAAACTCCAAGCTAACACAGTTCTTACAGATATTTTATAGCAGGAAAAAATTTTGTCTTTCTAAGTCAGTTTTGGAATAGACCTAACAATAAATTTATAAATAAATAATTTATCTTTTGTTTTTCTTATGATCTTCCCCAATACCCTATCTCACTTATTCAACAAATCTTTACTAAATACTATGTGCCAAGTGTTAGAACTAAAACCACAATGGAGGAGAAAACTCATGGTCCTTGTTC	benign	1,839
Assess the variant on chromosome 1, position 8656262, impacting RERE (arginine-glutamic acid dipeptide repeats): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	benign	TTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATCTGCTAATTACATCTCATACAAAATTCATGTCACTCTTCAACAGTAAAAGTAACTCAAACAAAATGATTTCACCTAGGTTTTACTGGCTTCTGTAAGAAAGGATCTTGTTTTGTTTTTTTTTGTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTAGAAAGCAGTGGTGCAATCATGCTTCACTACAGCCTCGACCTCCCAGACTCAAGTGATGCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGTGCCACCAGGCCCAGCTAATTTGTAAAAATTTTTTGTAAAGATGGGGGTCTCACTACGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTTCTGTCTCCGCCTCCCAAAGTGCTGGGATTACACTGTGCCCAGCCTAAAAAAGGTGTCTTAATACACACAATACATCAAATGAAAAGGAAAGGCTTTGCTAGTGTTCAACAGGTTTTGACTCACTTGTTTCCCTGATCTCATCTAAAAGTTGAGTCTGTCTTTTTTTGAGCAATGCTATAAGCCACAATATACTGGTGTGACCATAATACATTTTCTGGAAAACCAAGCAGGTTAGATGACTACTTCTATTATTGTTGATTAGAGAGCCTGAAGCTCAAATTTTTGGAAAAGGAAGTTAGCAGGAGCAATACATCTCTGATCTTCAGGGCTTTTTTTTTTTTCTGAGACGGAGACTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTGACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTAGAGGTGCACACCACCGAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTCACCACCCGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGCGTGAGCCACCATGCCTGGCCTAAAGGCCATTTTTAAAAAGTACCTCTCTAGAGTCTGGTCGATCCTGTCCCAAGGTAAAATTTCCTGTTTCCAAGAATCTTAAGGTTTACTTGTCTCCACCAAGCAGTCAATTCTGCAGGGTCACCACAGTCTCATTTATGATTGAAGATTAAAAAGCAAGCATGAATTCAAAAGACAAAAAAATACTAAGCAGATGGTCCAGTTAGAGAACAAGCAGCACAGGAAAATAAGAAAAGAACTCATGAATGCATAAACCAGGACACAAGAGCAAATTAAGGCAGACACAAGCAAGAAGTGGGTGAACCTAACTGACCAAAAGTGGGTCACATGTTTACCAAATTAAGTTTCCTACTCTTCTAGATTCCAAGCCTTCCTTAAAGTGTACAAAGCGTATTTATTTCACCATAATGCCAAGATCATTCCCCCACTGTAAACATTGGCAAGACCCAAACGTAAGGCTCCTTACCTCCTGGTCTGTAGACCACATCATCTTCAGTGATGTAGGATGTTATCTCACCGGTATCTGTCCTTTCATAACGAGACTTTTTTTTCGGTGGTTTCTTCTTATTCTTCTTCGTGGACTCCTCTGCGGTGGCACTATTGTTGTCATTGTCCTCGTCTTCACTGTGATCACTCTCAGCATAATTTTTGGCTCCTCCTTCCAAGGTACAGCTCCGGCGTGGCCTTGAATTCTCACTCTCTCTTGCTTTGTCTCTTTTCTCTCTCTCTCGGTCCCGGTCTCGGTCCCGGTCCTTCTCTTTGTCTTTGTCTTTGTCTTTGTCCGCTGTCATGATTCGCCACGTGCCTTCTTCTGTCCTCTCACGGCTAGGCCTCCGTGAAAGGTAGACAGTAAGCCTGGGCTTCAGTCTTCTGAATTTCTCACTCAATTCCAGGGAAAATCCAACCACTCCAACAACCCCAACGTTTCAAAAATGCTAGGAGAGAAAAAAGAATGGTTTTAACGCTTTTTCATATTTGTTTCCTAAAATAATGTTTTGTTAAATGAATCTCTTACTTATTCATGCTTTACACCTAAAAACTTCGCACAAGCCACAGGAGAAAAATTAAGTGTTAAAATTTAAAAACTACAGTTTTTGGTCTCAGCAAATGGTTTGGGGTTTTTTATGACACCAATAATAAAAACTGTCTGAATGCCTAAGAGTAAACTACACTTCCTCCACCTTACATGTTTTCTCCTTTTTAAAGAAAAAGCAAACCAATACCCTGGTAGACAACATATAATGGGTATTATTATACAAAAGGAGCTTCATAACTCATAATATTAATTTAAAGAGGAAAGAATCTGTAGTAAAAATTATTTCCAGGCCAGGCACTGCGGCTCATGCCTTGTAATCCCAGCATTTTGAGAGGCCAAGCCAGAAGGACCACTTGAAGCCAGGAGTTCAAGACCAACCCTGGCAACAAAGCGAGATCCCATCTCCAACATAAAATAAAATATTTCTACCTGAAAAAATAGTAATAGTTTGCAGCACTGTCAAAAATGTCTCAGGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGAAGATGGATCACGGGGTCAGGAGATCAAGATCATCCTTGCTAATGTGGTAAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTCAGGAGTCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGTAGTGAGCCGAGATTGTGCCACTGCACTTCAGCCTGGGCGACAGAGCGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAAAAAGTCTCAGGATATCGCATAGAGCACTATATTCTAAAGATATTTTCTGGCTACTTCTACAAACTCCCAGAACTTCCTTCAAGAATAAAAATAATATTTAACTCAAACGAAAGTGAGAGCTTCAGAGCAAGATTTTTCCACCTTCAGTTACATTTTACACATCTTTTCATCCTACCATTTTCAGTTATGTTCCAAGGAAAATGATCTCTCTAAAGATGTATTACTGGCCAGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGGGGATCACGTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCTGTCTCTACTAAACACACAAAAAGTAGCTGGGCACAGTGGCACACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTACAGTGAGCCGAGATCACACCACTGCACTCCAGTCTGGGCAAAAGACTCCATCTCAATAAAGAAAAGAAAATGTATTGTCTCTGCCTTAACAAAACATAACAGCTTCCAGAAACAAGCTTCCATCTTTCGGGAATATTAAGTGGTTTTTACAGTCTTCCAGATTTCTACTATAAATGGTATCCCTAATAAAGTACTCCCCAAAAAGAAACCCAACAAGAAAAGTCTTGAGGTTTTTAAGCGTCTGCAATGGGAAAAGTGAATCCCAAACTCCAAGCTAACACAGTTCTTACAGATATTTTATAGCAGGAAAAAATTTTGTCTTTCTAAGTCAGTTTTGGAATAGACCTAACAATAAATTTATAAATAAATAATTTATCTTTTGTTTTTCTTATGATCTTCCCCAATACCCTATCTCACTTATTCAACAAATCTTTACTAAATACTATGTGCCAAGTGTTAGAACTAAAACCACAATGGAGGAGAAAACTCATGGTCCTTGTTCTCAATGCTCAAATGCAACAAA	TTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATCTGCTAATTACATCTCATACAAAATTCATGTCACTCTTCAACAGTAAAAGTAACTCAAACAAAATGATTTCACCTAGGTTTTACTGGCTTCTGTAAGAAAGGATCTTGTTTTGTTTTTTTTTGTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTAGAAAGCAGTGGTGCAATCATGCTTCACTACAGCCTCGACCTCCCAGACTCAAGTGATGCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGTGCCACCAGGCCCAGCTAATTTGTAAAAATTTTTTGTAAAGATGGGGGTCTCACTACGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTTCTGTCTCCGCCTCCCAAAGTGCTGGGATTACACTGTGCCCAGCCTAAAAAAGGTGTCTTAATACACACAATACATCAAATGAAAAGGAAAGGCTTTGCTAGTGTTCAACAGGTTTTGACTCACTTGTTTCCCTGATCTCATCTAAAAGTTGAGTCTGTCTTTTTTTGAGCAATGCTATAAGCCACAATATACTGGTGTGACCATAATACATTTTCTGGAAAACCAAGCAGGTTAGATGACTACTTCTATTATTGTTGATTAGAGAGCCTGAAGCTCAAATTTTTGGAAAAGGAAGTTAGCAGGAGCAATACATCTCTGATCTTCAGGGCTTTTTTTTTTTTCTGAGACGGAGACTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTGACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTAGAGGTGCACACCACCGAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTCACCACCCGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGCGTGAGCCACCATGCCTGGCCTAAAGGCCATTTTTAAAAAGTACCTCTCTAGAGTCTGGTCGATCCTGTCCCAAGGTAAAATTTCCTGTTTCCAAGAATCTTAAGGTTTACTTGTCTCCACCAAGCAGTCAATTCTGCAGGGTCACCACAGTCTCATTTATGATTGAAGATTAAAAAGCAAGCATGAATTCAAAAGACAAAAAAATACTAAGCAGATGGTCCAGTTAGAGAACAAGCAGCACAGGAAAATAAGAAAAGAACTCATGAATGCATAAACCAGGACACAAGAGCAAATTAAGGCAGACACAAGCAAGAAGTGGGTGAACCTAACTGACCAAAAGTGGGTCACATGTTTACCAAATTAAGTTTCCTACTCTTCTAGATTCCAAGCCTTCCTTAAAGTGTACAAAGCGTATTTATTTCACCATAATGCCAAGATCATTCCCCCACTGTAAACATTGGCAAGACCCAAACGTAAGGCTCCTTACCTCCTGGTCTGTAGACCACATCATCTTCAGTGATGTAGGATGTTATCTCACCGGTATCTGTCCTTTCATAACGAGACTTTTTTTTCGGTGGTTTCTTCTTATTCTTCTTCGTGGACTCCTCTGCGGTGGCACTATTGTTGTCATTGTCCTCGTCTTCACTGTGATCACTCTCAGCATAATTTTTGGCTCCTCCTTCCAAGGTACAGCTCCGGCGTGGCCTTGAATTCTCACTCTCTCTTGCTTTGTCTCTTTTCTCTCTCTCTCGGTCCCGGTCTCGGTCCCGGTCCTTCTCTTTGTCTTTGTCTTTGTCTTTGTCTTTGTCCGCTGTCATGATTCGCCACGTGCCTTCTTCTGTCCTCTCACGGCTAGGCCTCCGTGAAAGGTAGACAGTAAGCCTGGGCTTCAGTCTTCTGAATTTCTCACTCAATTCCAGGGAAAATCCAACCACTCCAACAACCCCAACGTTTCAAAAATGCTAGGAGAGAAAAAAGAATGGTTTTAACGCTTTTTCATATTTGTTTCCTAAAATAATGTTTTGTTAAATGAATCTCTTACTTATTCATGCTTTACACCTAAAAACTTCGCACAAGCCACAGGAGAAAAATTAAGTGTTAAAATTTAAAAACTACAGTTTTTGGTCTCAGCAAATGGTTTGGGGTTTTTTATGACACCAATAATAAAAACTGTCTGAATGCCTAAGAGTAAACTACACTTCCTCCACCTTACATGTTTTCTCCTTTTTAAAGAAAAAGCAAACCAATACCCTGGTAGACAACATATAATGGGTATTATTATACAAAAGGAGCTTCATAACTCATAATATTAATTTAAAGAGGAAAGAATCTGTAGTAAAAATTATTTCCAGGCCAGGCACTGCGGCTCATGCCTTGTAATCCCAGCATTTTGAGAGGCCAAGCCAGAAGGACCACTTGAAGCCAGGAGTTCAAGACCAACCCTGGCAACAAAGCGAGATCCCATCTCCAACATAAAATAAAATATTTCTACCTGAAAAAATAGTAATAGTTTGCAGCACTGTCAAAAATGTCTCAGGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGAAGATGGATCACGGGGTCAGGAGATCAAGATCATCCTTGCTAATGTGGTAAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTCAGGAGTCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGTAGTGAGCCGAGATTGTGCCACTGCACTTCAGCCTGGGCGACAGAGCGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAAAAAGTCTCAGGATATCGCATAGAGCACTATATTCTAAAGATATTTTCTGGCTACTTCTACAAACTCCCAGAACTTCCTTCAAGAATAAAAATAATATTTAACTCAAACGAAAGTGAGAGCTTCAGAGCAAGATTTTTCCACCTTCAGTTACATTTTACACATCTTTTCATCCTACCATTTTCAGTTATGTTCCAAGGAAAATGATCTCTCTAAAGATGTATTACTGGCCAGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGGGGATCACGTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCTGTCTCTACTAAACACACAAAAAGTAGCTGGGCACAGTGGCACACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTACAGTGAGCCGAGATCACACCACTGCACTCCAGTCTGGGCAAAAGACTCCATCTCAATAAAGAAAAGAAAATGTATTGTCTCTGCCTTAACAAAACATAACAGCTTCCAGAAACAAGCTTCCATCTTTCGGGAATATTAAGTGGTTTTTACAGTCTTCCAGATTTCTACTATAAATGGTATCCCTAATAAAGTACTCCCCAAAAAGAAACCCAACAAGAAAAGTCTTGAGGTTTTTAAGCGTCTGCAATGGGAAAAGTGAATCCCAAACTCCAAGCTAACACAGTTCTTACAGATATTTTATAGCAGGAAAAAATTTTGTCTTTCTAAGTCAGTTTTGGAATAGACCTAACAATAAATTTATAAATAAATAATTTATCTTTTGTTTTTCTTATGATCTTCCCCAATACCCTATCTCACTTATTCAACAAATCTTTACTAAATACTATGTGCCAAGTGTTAGAACTAAAACCACAATGGAGGAGAAAACTCATGGTCCTTGTTCTCAATGCTCAAATGC	benign	1,840

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