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
Benign or pathogenic: chromosome 1, position 111780319, gene KCND3 (potassium voltage-gated channel subfamily D member 3) variant? Disease(s) if pathogenic?	benign	ACTGGAAGCCTGAGCTGGTGCTGGGTGTGACAGCAGAGGTAGGAGGAGCCCCAGAAGAATCAGCAGCACATGCACAGAACCAGGCCGGGGGGTAAAAAGGGGAGAATCCACAGACTCAGAATTATCAGAGAGAAAAACATCAATTGAATTTTTAAAAAGTTATACCTTGATGGTGGAGGTTCGTACAGATAACAGGGGATCATCCACAAGATAGGACAACCCCTACAGGACAACATGCCAACAGAAGATAAAAACACCATTGATTGTACATTCCAGCATTCCCAAGCCAGTTTTGACATTCAATCTCTTGATCCCGGCATTCCACCCTTTGAGTCAAACATTCCACCCCTCATTCCCAGCATTCTGCCCCCTTCCTCCCAACATTCCACCCTTTAGCCCCAACAGGACCCTGCTCAACCCCAACATTCATTCCTTCTATCCCAACATTCTGCCTCTCCTGTCCTGACATTCCACCCCTTAAGTCCAACATTCCTCCCCTAAAATCCAGCATTCCAGAGCTTTAATCCCAATATCTCACCCCCACAATCCAACATTCTTTCCCTCAAATTCAGCATTCCATCCCTTCAATGCCAGCATTCCATCCCTCAATTCTAAAATCTCATTTCTTTAATGCCAACATTCCAGCCCTTCAAACCCAAATATTTTCACCCATATCCTTTCAATTTACACATTCCACCCAGCACATGCAACTTGGAAAGGGCAGTTGGGTCCGGGCCTATCCCTTTGGCAAGCTCAGAGTCTTTGAGAGAAAGTCTATACATGAATATATGTTTTTGATGATAAATCCTGTAACTAGGGTTTGCAGAGCACCTTCCCATTTTGGAAGTAATTATTGGGTTCAACTGTCATCCACAGGGTCCACATTTGGCTCAGATAGAGTCATCGAAGCCAGGCATGGTGGTCTGTACCTGTAGTTCCAACTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTTAAGACCAGCCTGGGCAACATAGCAAGATCCTGTCCCTGCAGCCCCACACCCCCCTCCCCACCAAAAAAAAAGGAGTCATCTAACATTTATTCTCTCTACATCTGGGAGGCCAGGATATGGAACATCTAGAATTAGGAAGTTCCTTCCTTAGGGTACTGAGCCCTGACTATAGACTCTTTGGGGAGGAGGTTCTGGAAAGGAGCAGGAAGGCTTTCACTTTGTTTCTCCTTGGCTTTTCTACTCTGACCTCTCTTCCCTGTCTACTATTCCTAGCAGTTTCTGCCAAGGGTCCAGGGTTGGCCCCACTGCCCTTCCTTTCAGTCTGATGGTTAGGCACAAGCATCATTCCACACTCCAGCTGTGGCACCCTAAACCATGGCTCTGTTTTAACAATCAGCCTGTTAGCATCTGGACTCCCTGAGAACCACAGGGTGACTGGGCAGGGGTGGGGGTGGGGGGGCGGTACTTCTGAATCCTAGTTGGAGAAATACATGCACTACCTCCTTCACACGCTGTCTGCAGGAGGATGTAGGGAGCCAAGGGGCCCACAGGCTGCATCAACCCAGCCCCAGAGGTGGGACAGAAATCAACACTCTTCTCTACTCTCCTACACAAATTCAGCCCAAGCTTTGAAGGGTGATGCCTGTCAGAACTGAGAAACTGATAGGCAGACCCCTAAGTCCTCAATAATCAAGAAATGGGCTGTGGAGACGAGTGTAGGAGTGTGTGGGAGGCTGGGGGAATGGCCTCCTCAATGCTCCTGCAGGACAGAGCTGGTCTCCCACCCTGGTGACCTTGCCCCACTCCTCAGGGTCTTCCACCTGAGGGCCAGTAGATCCCATCACTACCTTTTGGATCTGAAGGGGACAGACTTTGACTTCTGGCCCAGAGTGAAGATGTGAGTACAGCCTTAGAAAAGGGTCAGGGTCAGCGATGAAAAGGAGGTGGCAAAGGGCTGGGACTCACAGTGGTTTTTTCCAGGCAGTGCAGCAGGTGATGATGCTGGCTCTCGATGAGTGAGGTGGTCTTGCCCATGTGCTCCTCTTCTGGGGTGCCCTAGTAAAAAAAGAAGAGAGATTGAGTAAAAAGCTGGTGGCTCTTCCCCTCTCCAGCTCCTTCATTTCTCCACTAAAGGTCAAAGGGCAATAGAATAATCAAATTTTTTTTTATTTGACCAAATTTCAGGGTCAGCATTGAATATGCTAACCTTTGGGCTCAGGGGCCCTTGGTCTAAACCTGGTTTAGAGGTAGTGGTGATAATCCTATGGAAGTGGTGTGTGAATGGGGGGCTGCTACCTGGGGAAAGTTTGGAAACGTGTCCTCCTTGGGGTTCATACTGGGGCTCTGGTGAGAGTGCTGGTGTCCCGGGAAAGAGAAAACAAGCCCATCTACCCCTTTATGTTCCCTAGCCCAGGTCCTCTAGGCACCTACCGTCAGCTCCAGCGCCTCGTTGAGGAGCCCGTTGCGCTTGCTGTGCAGGTATGCATTCGAACTGCCTGTTTTGGCCACACGGATCCTGGCAAGGCGGGCCTTCTGTGATTGGCAGAGATAATAAAAGAATGAGGCAGACCATGATACAAAAAGACAGCAAGGCTGGTGAAGCTGTGAGGCTGGCTTCCCAGGTGACACCTGATGAAGGGGATGAGGCTGTTTCTCTCCAACCTCATGCATCTCCAGTTGTGTACCCACTTTGTATAGCTTGGTTGGGTCAGAATTCCCAGGAGTCTCCACTCATCTCTCCAGCCCGGGTATAATCCTGGCAGGAGAAATATCACTCATCCAAGCTCTCTTCTCCCAAAGGTTTCATGACCTTTATCTACTCAGTATTGCAAAATGCCATGTGCTATTCAGTTGTGCTCCTCAGTTTTCTTATCTCTAACTAAATTGCAAACTCCTTAGAGGAGTGTATGTGATAGCTGCCCTGATTCTCCTCTAGGGTCCAGTACAATTTTCTGCATATAGTAGGTCCCCAAGTATTAGTTAATTATGAGAAAAGCAAGGAGTGGGCCTATGTGCTCTTCAATGCTTCTTAACTCCTCTGCAATTTTTTTCTTTGCACGTATTACTAAGGAAATATATGTTTTATATATTTTTCTTGATACTTTCTCTTTCTCTTCCACTAAAATGTAAATTCCTTGAGGGCAGGAGTTTTTGCCTTGTTTACTGATGTACCCCCAGTAAACAGTAGGTTCTCGATTTTTAAAGTTAATAAACACATTTACAATTGTATATCTGTCTTTGGGAGTAGATTCATGCATGTATATGGTTTTTTTATTTTTTTGAGACGGAGTCTCGCTGTCACCCAGGCTGGTGTGCAGTAGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCAACACACTCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTATCACCATGTTGATACCATGCAGGAGGGCTGCATGGTATCAAGCTCATCTCTCCTGCTTGCACAGGGAGAAGCTGAACACATTACATATGCTGGCTGCCCTTCTCCTTCCTAATGACTGTAATCATTGTCACTATGACAGTAGCACAGCCAAAGAGAGAGGACTAAGGAATGAGACTGAGAGAGGGAGAAGGGACTGGGTAGAGGTTTCTTGCTAGTTTAAAAAAATGCAGCTTGAGGTTTGGGCTCTGTAAATCTATTTACAGCCCCAGGTGCTTGCTACTGGAAGCAGAACAGCCCACAAGGATAGCAGACCCATCCTGGAGTAGAAGGTCCCTCCTCCTGGCTCTGAGCAAGTCCACATGTGACTTCAGCATGGACCCTAAGCAGGAAAAGAGTCCTAGGGAAATTGTGGCAATTTCCACTTCTTGTCACCCTCTCCCCAAGTGTCCTGCTGGGCTGGTTCATCTGCTAAAAGGAGGCCACAGTCTCAGGGGTTCAGGTGGACAACAGAAGCACAAAGGATGTATATCTCTTGCTTCCTGGGAAGTATCTCCTTGCAGAAACAATTCAACTCCCTTCCCAGGCTTCTAAATGTGGGGAAGGGGCCAGGACTTGAGCCTGAAAGATCTTCCTTTAAGTCTGA	ACTGGAAGCCTGAGCTGGTGCTGGGTGTGACAGCAGAGGTAGGAGGAGCCCCAGAAGAATCAGCAGCACATGCACAGAACCAGGCCGGGGGGTAAAAAGGGGAGAATCCACAGACTCAGAATTATCAGAGAGAAAAACATCAATTGAATTTTTAAAAAGTTATACCTTGATGGTGGAGGTTCGTACAGATAACAGGGGATCATCCACAAGATAGGACAACCCCTACAGGACAACATGCCAACAGAAGATAAAAACACCATTGATTGTACATTCCAGCATTCCCAAGCCAGTTTTGACATTCAATCTCTTGATCCCGGCATTCCACCCTTTGAGTCAAACATTCCACCCCTCATTCCCAGCATTCTGCCCCCTTCCTCCCAACATTCCACCCTTTAGCCCCAACAGGACCCTGCTCAACCCCAACATTCATTCCTTCTATCCCAACATTCTGCCTCTCCTGTCCTGACATTCCACCCCTTAAGTCCAACATTCCTCCCCTAAAATCCAGCATTCCAGAGCTTTAATCCCAATATCTCACCCCCACAATCCAACATTCTTTCCCTCAAATTCAGCATTCCATCCCTTCAATGCCAGCATTCCATCCCTCAATTCTAAAATCTCATTTCTTTAATGCCAACATTCCAGCCCTTCAAACCCAAATATTTTCACCCATATCCTTTCAATTTACACATTCCACCCAGCACATGCAACTTGGAAAGGGCAGTTGGGTCCGGGCCTATCCCTTTGGCAAGCTCAGAGTCTTTGAGAGAAAGTCTATACATGAATATATGTTTTTGATGATAAATCCTGTAACTAGGGTTTGCAGAGCACCTTCCCATTTTGGAAGTAATTATTGGGTTCAACTGTCATCCACAGGGTCCACATTTGGCTCAGATAGAGTCATCGAAGCCAGGCATGGTGGTCTGTACCTGTAGTTCCAACTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTTAAGACCAGCCTGGGCAACATAGCAAGATCCTGTCCCTGCAGCCCCACACCCCCCTCCCCACCAAAAAAAAAGGAGTCATCTAACATTTATTCTCTCTACATCTGGGAGGCCAGGATATGGAACATCTAGAATTAGGAAGTTCCTTCCTTAGGGTACTGAGCCCTGACTATAGACTCTTTGGGGAGGAGGTTCTGGAAAGGAGCAGGAAGGCTTTCACTTTGTTTCTCCTTGGCTTTTCTACTCTGACCTCTCTTCCCTGTCTACTATTCCTAGCAGTTTCTGCCAAGGGTCCAGGGTTGGCCCCACTGCCCTTCCTTTCAGTCTGATGGTTAGGCACAAGCATCATTCCACACTCCAGCTGTGGCACCCTAAACCATGGCTCTGTTTTAACAATCAGCCTGTTAGCATCTGGACTCCCTGAGAACCACAGGGTGACTGGGCAGGGGTGGGGGTGGGGGGGCGGTACTTCTGAATCCTAGTTGGAGAAATACATGCACTACCTCCTTCACACGCTGTCTGCAGGAGGATGTAGGGAGCCAAGGGGCCCACAGGCTGCATCAACCCAGCCCCAGAGGTGGGACAGAAATCAACACTCTTCTCTACTCTCCTACACAAATTCAGCCCAAGCTTTGAAGGGTGATGCCTGTCAGAACTGAGAAACTGATAGGCAGACCCCTAAGTCCTCAATAATCAAGAAATGGGCTGTGGAGACGAGTGTAGGAGTGTGTGGGAGGCTGGGGGAATGGCCTCCTCAATGCTCCTGCAGGACAGAGCTGGTCTCCCACCCTGGTGACCTTGCCCCACTCCTCAGGGTCTTCCACCTGAGGGCCAGTAGATCCCATCACTACCTTTTGGATCTGAAGGGGACAGACTTTGACTTCTGGCCCAGAGTGAAGATGTGAGTACAGCCTTAGAAAAGGGTCAGGGTCAGCGATGAAAAGGAGGTGGCAAAGGGCTGGGACTCACAGTGGTTTTTTCCAGGCAGTGCAGCAGGTGATGATGCTGGCTCTCGATGAGTGAGGTGGTCTTGCCCATGTGCTCCTCTTCTGGGGTGCCCTAGTAAAAAAAAGAAGAGAGATTGAGTAAAAAGCTGGTGGCTCTTCCCCTCTCCAGCTCCTTCATTTCTCCACTAAAGGTCAAAGGGCAATAGAATAATCAAATTTTTTTTTATTTGACCAAATTTCAGGGTCAGCATTGAATATGCTAACCTTTGGGCTCAGGGGCCCTTGGTCTAAACCTGGTTTAGAGGTAGTGGTGATAATCCTATGGAAGTGGTGTGTGAATGGGGGGCTGCTACCTGGGGAAAGTTTGGAAACGTGTCCTCCTTGGGGTTCATACTGGGGCTCTGGTGAGAGTGCTGGTGTCCCGGGAAAGAGAAAACAAGCCCATCTACCCCTTTATGTTCCCTAGCCCAGGTCCTCTAGGCACCTACCGTCAGCTCCAGCGCCTCGTTGAGGAGCCCGTTGCGCTTGCTGTGCAGGTATGCATTCGAACTGCCTGTTTTGGCCACACGGATCCTGGCAAGGCGGGCCTTCTGTGATTGGCAGAGATAATAAAAGAATGAGGCAGACCATGATACAAAAAGACAGCAAGGCTGGTGAAGCTGTGAGGCTGGCTTCCCAGGTGACACCTGATGAAGGGGATGAGGCTGTTTCTCTCCAACCTCATGCATCTCCAGTTGTGTACCCACTTTGTATAGCTTGGTTGGGTCAGAATTCCCAGGAGTCTCCACTCATCTCTCCAGCCCGGGTATAATCCTGGCAGGAGAAATATCACTCATCCAAGCTCTCTTCTCCCAAAGGTTTCATGACCTTTATCTACTCAGTATTGCAAAATGCCATGTGCTATTCAGTTGTGCTCCTCAGTTTTCTTATCTCTAACTAAATTGCAAACTCCTTAGAGGAGTGTATGTGATAGCTGCCCTGATTCTCCTCTAGGGTCCAGTACAATTTTCTGCATATAGTAGGTCCCCAAGTATTAGTTAATTATGAGAAAAGCAAGGAGTGGGCCTATGTGCTCTTCAATGCTTCTTAACTCCTCTGCAATTTTTTTCTTTGCACGTATTACTAAGGAAATATATGTTTTATATATTTTTCTTGATACTTTCTCTTTCTCTTCCACTAAAATGTAAATTCCTTGAGGGCAGGAGTTTTTGCCTTGTTTACTGATGTACCCCCAGTAAACAGTAGGTTCTCGATTTTTAAAGTTAATAAACACATTTACAATTGTATATCTGTCTTTGGGAGTAGATTCATGCATGTATATGGTTTTTTTATTTTTTTGAGACGGAGTCTCGCTGTCACCCAGGCTGGTGTGCAGTAGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCAACACACTCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTATCACCATGTTGATACCATGCAGGAGGGCTGCATGGTATCAAGCTCATCTCTCCTGCTTGCACAGGGAGAAGCTGAACACATTACATATGCTGGCTGCCCTTCTCCTTCCTAATGACTGTAATCATTGTCACTATGACAGTAGCACAGCCAAAGAGAGAGGACTAAGGAATGAGACTGAGAGAGGGAGAAGGGACTGGGTAGAGGTTTCTTGCTAGTTTAAAAAAATGCAGCTTGAGGTTTGGGCTCTGTAAATCTATTTACAGCCCCAGGTGCTTGCTACTGGAAGCAGAACAGCCCACAAGGATAGCAGACCCATCCTGGAGTAGAAGGTCCCTCCTCCTGGCTCTGAGCAAGTCCACATGTGACTTCAGCATGGACCCTAAGCAGGAAAAGAGTCCTAGGGAAATTGTGGCAATTTCCACTTCTTGTCACCCTCTCCCCAAGTGTCCTGCTGGGCTGGTTCATCTGCTAAAAGGAGGCCACAGTCTCAGGGGTTCAGGTGGACAACAGAAGCACAAAGGATGTATATCTCTTGCTTCCTGGGAAGTATCTCCTTGCAGAAACAATTCAACTCCCTTCCCAGGCTTCTAAATGTGGGGAAGGGGCCAGGACTTGAGCCTGAAAGATCTTCCTTTAAGTCTG	benign	13,197
Assess the variant on chromosome 1, position 111982044, impacting KCND3 (potassium voltage-gated channel subfamily D member 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['Spinocerebellar_ataxia_type_19/22']	TGAGGTCCCCTTCAGGAAGGTGAAGGGATGGCTAGGGTCAGCCTAAAAGGGATAAAGACGACCTCTTGACAGCACAAGCTCTCCAGTCCATTTTATCTCCAAAATACCCCACTGTGCCAAAAAGCCCACATCTGCCACCTGAGCCAAGAGAAACAAGGTCAAATGACCAAACATTCTTACCCACTCTGGGTGAGCAGCCATTTGAAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTTGGAGTGGGAGGAAGGGGCAGGGTGGTTCTGTCAGACAGATAAGAAGTAAAGGGAATGCCCCAATCAAATGTGGCCTTCACAAATGGATGGTGACACCCTTGCTCTTCCCCTTGCTACTCCCTCCCTCTTGTGTGTGGCAGAATGACAAATGTAATCATTTTAAAAGGTCTCGTCACCTGCTCAGTCATTCCCAATAAGCATACGCAGCACTATGGAAAAACCAACACTATTGCCTCTGGGTTTTGGCCAGGAAAAAAAAAAATCAAATCACCAGGACACCACCAACCACACTGTCAAAGACAAAATAAAAAGCTTCATGAATTCTCCATCAGCAATATAACGCTTCCTAGCCTAAGCAAATATAGACCCAGTATATGAATTGTGGAGGGATTTTGCATTAGGCTCCATGGTTTCTAATAGCTGAGGCAGAAACCCCTAAGAAATCTATGTTTCCATAAAGCCACCTTTATTGGCTATAATCCTGCTAGGGTGAAGACTGTAATCTCCTTCCTGAGCCCCCTTCCTCTGATGGAAAGCTTCACATCCCAGCATCATGAATACATTTCTGTGACCTCAGCTGGAGAGGAGACCTCGGAGAGACGGAATTACCATGACCTCACCGAGCACCTGTCCCTCCTTCTGATGATATTGCTGCTTCTGTGTCTGACCACATGATCCATTCAGACCATCTCACAGTCACCCAGGTCATTCAATCACTGACTCAGACTAAAAAGCAAGACTGATACTGCTTTAGAAAGAAAGAATAAACCACGTGCCTTACTGCGAAAAATCCAGGTTCAGAGTCACTTAGAGAAAGTCTGCTCAGAGCTACTGAACGCTTGAGTGTCTGTGGCAGCACAGGAGAAAAGCATAACAAATGGGAAAATGGCCTGCAAAATATACTACAAAGAAAAAATGCAGAAAGGATCCAAAAAGAGTGCTCTTGGTGTCTTCTGGTAATGGACATCTGAACCCTCCGAACTTCTCAACAGTCTCCTCCCTCCCCAACAACTGCCCTGACCTTCTCCCCACGCTGCCCCATATGCGCAAATGCATATACAAATGCAGACATCACCTCACCCCGAGACTTCACACGCACACAAGGCATGGCTGAAAAAAGAATTGGTGACTTAATTTTCTTAGCTCTATAAAACACATGCCCCGACCTCAAAAAGAAAACTCAATTCCCAGCAAGCTACCACCCCCAAACAGATGACTCATGGGCTTTACCCTTCGGATAGAGCAACTTCCCCTGCCCCCAACACTTGGGTAAGGGACTCCCTCCTCCTCTACCCATGGTGACACCATCCAAGGTTTCAGAGGTCATCCAGCTGCCCTCCAACCTCCGTCCTGGTTTCATCCACCAGCGCTGACTTACCCCAGTGTGGTCATGGTGACAATGGTGTACCAAAACGAGGCAGGGATGCTTGTGAACTTGCTGGCCGAGGAGCCCTTCTCGGCATAAAACATCACAGTGGCAAAGATGATGATGGCCATGGTGAGGGAGAAGAGAAGAAAGCCCAGTTCGGAGGCACAGCTCTTCAGTGTGTAGCCCAGGATCCGCAGGCCCTGGGAGTGGCGGGAAAACTTGAAGATCCTGAAGACGCGGAAGACCCGGAGCGTGACGAAGGCGCCGGACACGTCCTCGTTGTTGGTCATGACCAGACCGATGTAGTAGGGCATGATGGCCACCACGTCGATGATGCTCATGACGCTGCGGATGAAGCGGTAGCGGCTGGGAGCCGCGAAGAGCCGCAGGAGGTACTCCACGGTGAAGATCATGACGCACGCCGTGTCCAGGCAGAAGAAGGCCACCGAGTAGCGCTCCCCGCACGGCAGCTCCTTGCTGCCCGGGACCGTGCCGCACGGCACCGTCTCCACCACGTTGGTGATGACCGAGACAGCGATGAAGAAGCCAGTCACGTAGTAGAAGACCAGGGCCAGCGTGCTGGTGTGGGGGTTCTCGAAGGCCCGCCACATGGTCTGGCGGAAGCTGAGCGAGGGCATGGACTCCTGGTTGTTCTCCGAGTCGTTGTCGTCCATGAGCCGCTCGGCGTTCTCCCTCTTGCGGTCCTTGTACTCCTCGTAGCAGCAGTCCCCGATGATCTCCGGGAGGATGCCGTAGAAGGCCAGCTCGTCGTCGTAGGCAGAGATGCACTCGTAGCGCGGGTAGTGCAGCTTCCCCGTGCGGTAGAAGTTGAGCACGCAGCGGAACACCTCGGGGTCCCGGTCGAAGAAGTACTCCTTGGTGTCCTCGTTGAAGAAGAACTCCTTCTCCGTGCTGCCCAGCAGGGTGTCCGGGTAGCGCTCCAGCGTGGTCCTCCAGGTCTGGAACCTCCGCCCACTCACGTTGAGGACAATCAGCTCATCCTGCCGCTTGTTCTTGTCGGCCGGGGCCAGGGGCATGGGGCAGTTGGCCACCGGCATCCACCCGATGGCCGCAGCCCGGGCAAAAGGCAGCCAGGCCGCAACTCCGGCCGCCATGGTGACTCCAGCTCTTGGGCCGGCAGCCGCGCGGACGCTAGGCACACCAGCTTGGAGTTAGTTCAGCAAACCCTGGGAGACAGGAGGGGAGAGAGAGAAGCGGTGAGTCCATATCGACTGGCAGGTAAGAAATGGGACACAGGAAAGGATCACTGGTGAGTGAAACGGCCAAAGTCTCCAGGGCAGATTAATAAAACTGAAATCCCCACCACAGAGAGGGGACTTGATTCTTTGCCATCCAGACACTGGGAGAACACCTAGCTCCTGGAGCTCGGCAGGGTGGGATCGCCAGATGTTGCTGACTGCCTGACAAATCGTCAAGCTCCAAGAGGGCTCAAGAGCATTTGGAGGGAAGGCCTCTTTAGCAGGAAGATCTGGCAAGACGTGGGTAATAATCAGCTCTGAAAGGTTATGGCGTTATTACCAATTTAAATTGGGAGAGGGTAGATGAGTTCTCATTAAATGAATTTAAAAGTGGGATAAACATGCTAATTTTTATTTCACTCTTTCACCCACTGGGGTAATCAGGAACGGGGTGTAGATGAGTGAGATCAGGTAAACAATTCTTTCTACTCCTCCCTAGTGAGGAAGAGGCTGGGGCTGCCCAAGTCCAGAAAATTCTCTGAGATGGCAGGTGACCACCAGGATTGGTGAGGTTCTGTCCCCAACTCCCATGGAGAAGGCTCTCCCTGGCAAAGTGCTACTCTGAGGGACACTTAGCCCCTACTCCTTGCCCTAGCAACCTAGTATCAAATTTTTCCCCTCAGACCCTCAGAGCCATGATGGAAAGACGTGGGAAGGGTTGTGAGGCTGGGCAGGGTCTCTTTCCCTGCTCTGTGAAGGGCGTCTTGGCTTCTTGGTTCACCTGACTTCCATGCATCGTCTCTCTCCCTCCCCAGAAGAAGCCGATCCGCGCTCACTGCCGTCCCTAGATTCCTCTCCTCCCATCTCCATCTGCCCACCATCCATAACTCCCTCAGGTTATATAACAACACTCCTTCCCATACCAGCCTCTCTCACCTGGTCCCCACTCCACCCTCAGAGATTTTTCCAGAGCCAGGCTACCCTGTCCCTTCACCTCTCTAAACCACACTGCATAAGCACTTCCCCATTACCTGTGTGGACAGAGGGAGCAATGGCACGGAGAATTATATTTGGCTTTGGGAAGCAGATTTACCTTCCCAAATCTGGCTTTTTAAAGATGATAGTGAAATCACTCTGCAGTCCCCAAATGTATACCATCTGTGGGAAGGCATGTGGTGACACGGAAACACACGTAACAGAAATTGGAAATTGTTTGGGGTTGACACACTCATCTCCACTAATCCTAAACTGATCACACAGAACAAATCCTAACTTGGAATT	TGAGGTCCCCTTCAGGAAGGTGAAGGGATGGCTAGGGTCAGCCTAAAAGGGATAAAGACGACCTCTTGACAGCACAAGCTCTCCAGTCCATTTTATCTCCAAAATACCCCACTGTGCCAAAAAGCCCACATCTGCCACCTGAGCCAAGAGAAACAAGGTCAAATGACCAAACATTCTTACCCACTCTGGGTGAGCAGCCATTTGAAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTTGGAGTGGGAGGAAGGGGCAGGGTGGTTCTGTCAGACAGATAAGAAGTAAAGGGAATGCCCCAATCAAATGTGGCCTTCACAAATGGATGGTGACACCCTTGCTCTTCCCCTTGCTACTCCCTCCCTCTTGTGTGTGGCAGAATGACAAATGTAATCATTTTAAAAGGTCTCGTCACCTGCTCAGTCATTCCCAATAAGCATACGCAGCACTATGGAAAAACCAACACTATTGCCTCTGGGTTTTGGCCAGGAAAAAAAAAAATCAAATCACCAGGACACCACCAACCACACTGTCAAAGACAAAATAAAAAGCTTCATGAATTCTCCATCAGCAATATAACGCTTCCTAGCCTAAGCAAATATAGACCCAGTATATGAATTGTGGAGGGATTTTGCATTAGGCTCCATGGTTTCTAATAGCTGAGGCAGAAACCCCTAAGAAATCTATGTTTCCATAAAGCCACCTTTATTGGCTATAATCCTGCTAGGGTGAAGACTGTAATCTCCTTCCTGAGCCCCCTTCCTCTGATGGAAAGCTTCACATCCCAGCATCATGAATACATTTCTGTGACCTCAGCTGGAGAGGAGACCTCGGAGAGACGGAATTACCATGACCTCACCGAGCACCTGTCCCTCCTTCTGATGATATTGCTGCTTCTGTGTCTGACCACATGATCCATTCAGACCATCTCACAGTCACCCAGGTCATTCAATCACTGACTCAGACTAAAAAGCAAGACTGATACTGCTTTAGAAAGAAAGAATAAACCACGTGCCTTACTGCGAAAAATCCAGGTTCAGAGTCACTTAGAGAAAGTCTGCTCAGAGCTACTGAACGCTTGAGTGTCTGTGGCAGCACAGGAGAAAAGCATAACAAATGGGAAAATGGCCTGCAAAATATACTACAAAGAAAAAATGCAGAAAGGATCCAAAAAGAGTGCTCTTGGTGTCTTCTGGTAATGGACATCTGAACCCTCCGAACTTCTCAACAGTCTCCTCCCTCCCCAACAACTGCCCTGACCTTCTCCCCACGCTGCCCCATATGCGCAAATGCATATACAAATGCAGACATCACCTCACCCCGAGACTTCACACGCACACAAGGCATGGCTGAAAAAAGAATTGGTGACTTAATTTTCTTAGCTCTATAAAACACATGCCCCGACCTCAAAAAGAAAACTCAATTCCCAGCAAGCTACCACCCCCAAACAGATGACTCATGGGCTTTACCCTTCGGATAGAGCAACTTCCCCTGCCCCCAACACTTGGGTAAGGGACTCCCTCCTCCTCTACCCATGGTGACACCATCCAAGGTTTCAGAGGTCATCCAGCTGCCCTCCAACCTCCGTCCTGGTTTCATCCACCAGCGCTGACTTACCCCAGTGTGGTCATGGTGACAATGGTGTACCAAAACGAGGCAGGGATGCTTGTGAACTTGCTGGCCGAGGAGCCCTTCTCGGCATAAAACATCACAGTGGCAAAGATGATGATGGCCATGGTGAGGGAGAAGAGAAGAAAGCCCAGTTCGGAGGCACAGCTCTTCAGTGTGTAGCCCAGGATCCGCAGGCCCTGGGAGTGGCGGGAAAACTTGAAGATCCTGAAGACGCGGAAGACCCGGAGCGTGACGAAGGCGCCGGACACGTCCTCGTTGTTGGTCATGACCAGACCGATGTAGTAGGGCATGATGGCCACCACGTCGATGATGCTCATGACGCTGCGGATGAAGCGGTAGCGGCTGGGAGCCGCGAAGAGCCGCAGGAGGTACTCCACGGTGAAGATCATGACGCACGCCGTGTCCAGGCAGAAGGCCACCGAGTAGCGCTCCCCGCACGGCAGCTCCTTGCTGCCCGGGACCGTGCCGCACGGCACCGTCTCCACCACGTTGGTGATGACCGAGACAGCGATGAAGAAGCCAGTCACGTAGTAGAAGACCAGGGCCAGCGTGCTGGTGTGGGGGTTCTCGAAGGCCCGCCACATGGTCTGGCGGAAGCTGAGCGAGGGCATGGACTCCTGGTTGTTCTCCGAGTCGTTGTCGTCCATGAGCCGCTCGGCGTTCTCCCTCTTGCGGTCCTTGTACTCCTCGTAGCAGCAGTCCCCGATGATCTCCGGGAGGATGCCGTAGAAGGCCAGCTCGTCGTCGTAGGCAGAGATGCACTCGTAGCGCGGGTAGTGCAGCTTCCCCGTGCGGTAGAAGTTGAGCACGCAGCGGAACACCTCGGGGTCCCGGTCGAAGAAGTACTCCTTGGTGTCCTCGTTGAAGAAGAACTCCTTCTCCGTGCTGCCCAGCAGGGTGTCCGGGTAGCGCTCCAGCGTGGTCCTCCAGGTCTGGAACCTCCGCCCACTCACGTTGAGGACAATCAGCTCATCCTGCCGCTTGTTCTTGTCGGCCGGGGCCAGGGGCATGGGGCAGTTGGCCACCGGCATCCACCCGATGGCCGCAGCCCGGGCAAAAGGCAGCCAGGCCGCAACTCCGGCCGCCATGGTGACTCCAGCTCTTGGGCCGGCAGCCGCGCGGACGCTAGGCACACCAGCTTGGAGTTAGTTCAGCAAACCCTGGGAGACAGGAGGGGAGAGAGAGAAGCGGTGAGTCCATATCGACTGGCAGGTAAGAAATGGGACACAGGAAAGGATCACTGGTGAGTGAAACGGCCAAAGTCTCCAGGGCAGATTAATAAAACTGAAATCCCCACCACAGAGAGGGGACTTGATTCTTTGCCATCCAGACACTGGGAGAACACCTAGCTCCTGGAGCTCGGCAGGGTGGGATCGCCAGATGTTGCTGACTGCCTGACAAATCGTCAAGCTCCAAGAGGGCTCAAGAGCATTTGGAGGGAAGGCCTCTTTAGCAGGAAGATCTGGCAAGACGTGGGTAATAATCAGCTCTGAAAGGTTATGGCGTTATTACCAATTTAAATTGGGAGAGGGTAGATGAGTTCTCATTAAATGAATTTAAAAGTGGGATAAACATGCTAATTTTTATTTCACTCTTTCACCCACTGGGGTAATCAGGAACGGGGTGTAGATGAGTGAGATCAGGTAAACAATTCTTTCTACTCCTCCCTAGTGAGGAAGAGGCTGGGGCTGCCCAAGTCCAGAAAATTCTCTGAGATGGCAGGTGACCACCAGGATTGGTGAGGTTCTGTCCCCAACTCCCATGGAGAAGGCTCTCCCTGGCAAAGTGCTACTCTGAGGGACACTTAGCCCCTACTCCTTGCCCTAGCAACCTAGTATCAAATTTTTCCCCTCAGACCCTCAGAGCCATGATGGAAAGACGTGGGAAGGGTTGTGAGGCTGGGCAGGGTCTCTTTCCCTGCTCTGTGAAGGGCGTCTTGGCTTCTTGGTTCACCTGACTTCCATGCATCGTCTCTCTCCCTCCCCAGAAGAAGCCGATCCGCGCTCACTGCCGTCCCTAGATTCCTCTCCTCCCATCTCCATCTGCCCACCATCCATAACTCCCTCAGGTTATATAACAACACTCCTTCCCATACCAGCCTCTCTCACCTGGTCCCCACTCCACCCTCAGAGATTTTTCCAGAGCCAGGCTACCCTGTCCCTTCACCTCTCTAAACCACACTGCATAAGCACTTCCCCATTACCTGTGTGGACAGAGGGAGCAATGGCACGGAGAATTATATTTGGCTTTGGGAAGCAGATTTACCTTCCCAAATCTGGCTTTTTAAAGATGATAGTGAAATCACTCTGCAGTCCCCAAATGTATACCATCTGTGGGAAGGCATGTGGTGACACGGAAACACACGTAACAGAAATTGGAAATTGTTTGGGGTTGACACACTCATCTCCACTAATCCTAAACTGATCACACAGAACAAATCCTAACTTGGAATTNNN	pathogenic	13,244
A genetic variant at chromosome 1, position 112917655, affecting gene SLC16A1 (solute carrier family 16 member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).	pathogenic; ['Ketoacidosis_due_to_monocarboxylate_transporter-1_deficiency', 'Metabolic_myopathy_due_to_lactate_transporter_defect', 'Monocarboxylate_transporter_1_deficiency,_autosomal_dominant']	AACTGATACAGGTAGACCAGTTAGGAGGTTACAGTTAGGAGCAGCCCAAACAGGAGACAGGAGCTTTGGATAAGGGTAGTAGTTGTGATGGAGAAAAATGGGCAGATGAGAACAAGATTTAGAGCATAAAAACTCATAGAACTTAGTAACTCACTGGGTATGAGATGGAAGAAGACAGTGATCTCAAAAGGCAGCTATGGATCTTCTGTTATATACTCACTCACTCCCCAAATCAAAGTTCCTAAAGTATGAGTCACATCCAGAAGAAGGGTCAAATTATTTTTTCACTATGTGTTATGTATTGAGCTATTAATTTGAAAGATAAAGTATTCAATAACCTTCAGGAATAGTTCCCAAGTTGTAATTAATTTTCTAGCTGTATGATTTTAGCCAAGTTATTTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTAATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCA	AACTGATACAGGTAGACCAGTTAGGAGGTTACAGTTAGGAGCAGCCCAAACAGGAGACAGGAGCTTTGGATAAGGGTAGTAGTTGTGATGGAGAAAAATGGGCAGATGAGAACAAGATTTAGAGCATAAAAACTCATAGAACTTAGTAACTCACTGGGTATGAGATGGAAGAAGACAGTGATCTCAAAAGGCAGCTATGGATCTTCTGTTATATACTCACTCACTCCCCAAATCAAAGTTCCTAAAGTATGAGTCACATCCAGAAGAAGGGTCAAATTATTTTTTCACTATGTGTTATGTATTGAGCTATTAATTTGAAAGATAAAGTATTCAATAACCTTCAGGAATAGTTCCCAAGTTGTAATTAATTTTCTAGCTGTATGATTTTAGCCAAGTTATTTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCANNNN	pathogenic	13,303
Determine whether the variant at chromosome 1, position 112918054, in gene SLC16A1 (solute carrier family 16 member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).	benign	TTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTAATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCAAAGAACTTCCTCCCTGACCTCATAGCAAACCATTCTTACATTTGTTAATAAGCTCTACGGTCTATGATCCCTTACATTTTCACAAATCTGGTTCCCTGTTGTTATGCAGGTCTCTACTTAAAGTTGATTCTTCAGTGAGCCCTGACCTTCATTGCTTGCCCAGTTCTTCCCTGTCACAACACTCAGTTAAAGGCTTTATATAGCATTTATCACTACCTGATATTTTTCTTATTTATTAATTTATTTATGAGTTGTACTGTTTGTCTCCTCCTATTAAAGAGTGTAACTGCCTGACTTGTTGCTCTATCTCTACAGCACCTAAAATGGTTCCTAACACACATACAGTTGTTGCTCAATAAATATTTCATAAATAAATTAATAAAAGAGCAAATGAACCAA	TTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTAATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCAAAGAACTTCCTCCCTGACCTCATAGCAAACCATTCTTACATTTGTTAATAAGCTCTACGGTCTATGATCCCTTACATTTTCACAAATCTGGTTCCCTGTTGTTATGCAGGTCTCTACTTAAAGTTGATTCTTCAGTGAGCCCTGACCTTCATTGCTTGCCCAGTTCTTCCCTGTCACAACACTCAGTTAAAGGCTTTATATAGCATTTATCACTACCTGATATTTTTCTTATTTATTAATTTATTTATGAGTTGTACTGTTTGTCTCCTCCTATTAAAGAGTGTAACTGCCTGACTTGTTGCTCTATCTCTACAGCACCTAAAATGGTTCCTAACACACATACAGTTGTTGCTCAATAAATATTTCATAAATAAATTAATAAAAGAGCAAATGAACCAANNNN	benign	13,304
Is the genetic mutation found on chromosome 1 at position 112918054, within the gene SLC16A1 (solute carrier family 16 member 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s).	benign	TTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTAATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCAAAGAACTTCCTCCCTGACCTCATAGCAAACCATTCTTACATTTGTTAATAAGCTCTACGGTCTATGATCCCTTACATTTTCACAAATCTGGTTCCCTGTTGTTATGCAGGTCTCTACTTAAAGTTGATTCTTCAGTGAGCCCTGACCTTCATTGCTTGCCCAGTTCTTCCCTGTCACAACACTCAGTTAAAGGCTTTATATAGCATTTATCACTACCTGATATTTTTCTTATTTATTAATTTATTTATGAGTTGTACTGTTTGTCTCCTCCTATTAAAGAGTGTAACTGCCTGACTTGTTGCTCTATCTCTACAGCACCTAAAATGGTTCCTAACACACATACAGTTGTTGCTCAATAAATATTTCATAAATAAATTAATAAAAGAGCAAATGAACCAA	TTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTAATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCAAAGAACTTCCTCCCTGACCTCATAGCAAACCATTCTTACATTTGTTAATAAGCTCTACGGTCTATGATCCCTTACATTTTCACAAATCTGGTTCCCTGTTGTTATGCAGGTCTCTACTTAAAGTTGATTCTTCAGTGAGCCCTGACCTTCATTGCTTGCCCAGTTCTTCCCTGTCACAACACTCAGTTAAAGGCTTTATATAGCATTTATCACTACCTGATATTTTTCTTATTTATTAATTTATTTATGAGTTGTACTGTTTGTCTCCTCCTATTAAAGAGTGTAACTGCCTGACTTGTTGCTCTATCTCTACAGCACCTAAAATGGTTCCTAACACACATACAGTTGTTGCTCAATAAATATTTCATAAATAAATTAATAAAAGAGCAAATGAACCAANNNNNNNNNNNNNNNN	benign	13,305
Clinical significance of chromosome 1, position 112918057, gene SLC16A1 (solute carrier family 16 member 1): benign or pathogenic? Name the disease(s) if pathogenic.	benign	ACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTAATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCAAAGAACTTCCTCCCTGACCTCATAGCAAACCATTCTTACATTTGTTAATAAGCTCTACGGTCTATGATCCCTTACATTTTCACAAATCTGGTTCCCTGTTGTTATGCAGGTCTCTACTTAAAGTTGATTCTTCAGTGAGCCCTGACCTTCATTGCTTGCCCAGTTCTTCCCTGTCACAACACTCAGTTAAAGGCTTTATATAGCATTTATCACTACCTGATATTTTTCTTATTTATTAATTTATTTATGAGTTGTACTGTTTGTCTCCTCCTATTAAAGAGTGTAACTGCCTGACTTGTTGCTCTATCTCTACAGCACCTAAAATGGTTCCTAACACACATACAGTTGTTGCTCAATAAATATTTCATAAATAAATTAATAAAAGAGCAAATGAACCAACTG	ACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTAATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAAGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCAAAGAACTTCCTCCCTGACCTCATAGCAAACCATTCTTACATTTGTTAATAAGCTCTACGGTCTATGATCCCTTACATTTTCACAAATCTGGTTCCCTGTTGTTATGCAGGTCTCTACTTAAAGTTGATTCTTCAGTGAGCCCTGACCTTCATTGCTTGCCCAGTTCTTCCCTGTCACAACACTCAGTTAAAGGCTTTATATAGCATTTATCACTACCTGATATTTTTCTTATTTATTAATTTATTTATGAGTTGTACTGTTTGTCTCCTCCTATTAAAGAGTGTAACTGCCTGACTTGTTGCTCTATCTCTACAGCACCTAAAATGGTTCCTAACACACATACAGTTGTTGCTCAATAAATATTTCATAAATAAATTAATAAAAGAGCAAATGAACCA	benign	13,306
Clinically, how would you classify the variant at chromosome 1, position 112956232, gene SLC16A1: benign or pathogenic? If pathogenic, specify the associated illness(es).	benign	TCTTAATCTTGCATAGGAGTGAGCATTATAAAGTGAATTGAAAACACGATGGGAATGCAGAACATAAGGAGCTGAGAAATCTATTTTCAGGCTGAGATAATTTGTATCCAAATTTACAATCTAAAGAAAAATCAGGAGTGCCAATCTAACAAAAATGAGTCCAAAGACACACATAGTTCCCACCAAACCATAACAAGTTTTCAGACCTAAGATGTTAGATCACTTAATCCCTCCAGCCCCAGTTTCCTTATGTGTAAAACAAGGGATCCTGATCAGCTGGTCATTAGGATCCTTTCCAGGGCTAATATATGCCCTAATATTTAAAGGCTAAAACATGTAAACTAGTGAAATACTAATCATTTGCTTTCATCCTATAGTGATATGACTTTTTTCCTTTTTAATCTGTTTAAGGACATTACAGTCTATCCCGTTAAGCTTACAACTAAACCTTCAAATCTATTCAGCTATAAAAATCTTACAAAATGCTCCTCAGATCATTAACTTGCATATTTAACAATGGTAACTGCAATCTGATGAAACAACAGCATCTACCTAAGACCAAAATGAATTACTGAAATATATTCAACTTCTGTGTAAATAATAAATCTTACCACGTGTTTTAAGTGCTAAATATCTTGAATTGTTGGTCATTTCTATGGCAATCTGAAGGCAAAGTCGTGCCCCAGGGTGTAAGACTTGAATTTATGGGTACTATTTAACACCTAACTAAAAAACTGAAGATACATAGTCTTTGCATCACCTCACTGGGCTGGTGGTTGGGATAAAAAAATTGTTGAAACCAGAGTAATTTTTGAAAAAAAAATTCAAAACAAGTTATAGTAAGTTACAGTAAATAAAGTAGCTTAGTAAGTTACAGTAAATAAAGTAGCGTGTAAACATTTTACTGTTATCAGTAGCAGCCCAGTTTCTAATCAGCCACTGGAAACCCAAAGAAAGACTAAAGTAGTAACAAGTTTGTCTCCTGGTTTAGATTAATTACAAACTAGTTTTGGCAACTGCTTGTTCCATCAAATATGTCATGACAAAGTAATAAAATGTTAAAACGCATGCTGGAAAAAAAAAAAGACGTACTTGGAACAAAAAACTTGCATCGGACCAAGTGTAACGCTATCCTCCAGATTTCTCTCAACAGGGCCGCCTTAAGTCCATGAGTAGAAGGGCGCTGCGGCGGACGCTGGCAGCCACAGGTTGAATGACAAAGAGCCCCCGTCAGCACCACTCCCAGGAGTCTGCGGGCTGCCCCGTCCCCTCCGCAAAGTCTACTCGAACCCTGCAGTCACGCCTTGGCTGTGGGGAATGCGGCTCTCCGCACCACTCTCGCAAGTCACCAGGTGGGGCAAGGATCGGCGGGCCAAGAAGGTTGGGGCGGACAATGTCACGAATCATAAATAACTTCTGCCCCGAGTCCCTTCCCTTGGGGCAGAAGCGGCCAGGAGAGTCTGGAGGTACCACATGCAGCAGCCTCATGTTATCCCTTTTCCAGATCAAAGCATCTCTCGAGGAGCCTATTGAAGACTTAGGGGGGAAGGGACTTCCCCACCGTCACCGGGCACCACGACCCAACTCCTCGGCCAGGCCTGGGACCGGCATCTTAGCACGGGGCCCGCGGCTCGGCTAAGAGAGGCGCTGACCCCAGCGCCTCAAGGTCTCCTTCACCAGCACTGCAGTCCGAGGCCACGCGGCTGCCTGTGACCACGATGCCCTCTGCTGGGCCGCCTCCCTCCGCCGGAGACAAAGTCTCCCAACCCCGGAGGTCCCCTCCGACCCCACCAGGGCAGCGAGGGCACCGTGGGGTCCGCGCCGCGTGCCGCCGGCTGTTACCCAACTAACCGTTATATGCGCGGATCGCAGCGCCGAGCGTGTGCGTGACGTGGTGGCGCAGGCTGGAGTTCCACGGGGCCCAGGGTCCGGCTCCCGTCCTTCGCTCGCTGCCTCGTTTGCTTGTTCCAGTACCCACGCAGCTAGCCAGTCACGTCGCAGCTCACCACTTTGTCTGGCCGGGCCAGCGAGGCTGCCTTATAACCCGCCGGGGCCGGAGCATGCGCGCAGGGGGCGGAGTCGTCTCTCCCGGCCGCCGCCCCCTCCCCGCCACACAGACATCCGAACTGCAGCCCGCGCCTCCACACGCTTTCAGCCGCGCGCGCCCTCTAGCTCGCCCGCGCGCGCCGGCGCCCCCTCCCCGCCACGTGACCGGCGTCCCAGTCCGACCCGCGCGCTGCGCCCCTGCTGAGCGGCGCGGAGCTACCACGCCCTGCCAGACTCGCCCTTGGGTCCCTGTCTGACGAGCTCTAGGCAATCTGCCCTCGTTCGGGACACAACCATCGGTCTCACCCCTCAGTTTCTGCCAGAGAAAAAGGAAAAGTCACCGAGAGGCCTGACCCTGACGGGTGGGGGAGATGCGCGTGCGGAGTAGCGGGAAGCGACTGAGGAGCGGGGAATGGGCAGCATTTGAATGGATGCGGGTGCCGCTGGCACCCGGGAAGACGCTGGGGGCCGGCGCTGTAGAGCCGGGCATGGGCTGGGATGTGTTTGGATTCCAATCCGGGCCTGACACCAGTTCAGTGACCTCGGGAAGTTCCCCAACCCTCCGGGCCTGTTTCCTCCCTCTGAAGTGGCGACAGTAGTAGAACCGACCTCGTAGGCTCATCGGGAGGTCCTGATGGGAGAACCCATGCAACTTGCCACCATAGAGCCAGGCCCGCGGCGGTTGGCGCCTGGTGGGTATTAAAGACGAGTCGGGAAAGAAGAGCAGGTAAGAGGGTGGGGAGACTGGCCCAGTGGGTTGGGGTGTGCACCTCGGCCACGTGGAAAAGCGAGAATGCAGAGGCCGGACGCTTATGGACGATGCATATGTGGGGCCGGATAGAATTGTGGCAGGCGGCGCTGGGGCTGATGCTCCTCACCCGGATTATCCTCTCTAATCCTCAGCCCTGTGAAGTGGGCACTGCCCTGAACATTTTGTAAATAAGGGACCCGAGGCTCAGAGAGGTGAAGTAACTTTCCAGACAGCCCAGCTCGTCAGCGGCCAGCATTTGAAGTCACACTCCAGAGCCTGTTTTTAACATAATAGCCGCTGTGACCGCATAACCAACGTGTGTGTTGAAGTGATCAAATAACCATGGAGTGTCTTTGATGTCCAGGACTTTTGAGAAATACCGAAAAATATGAGGCAAGGCCCCTGCCTTCAAAGAGCTTGCAAGTTTTTGGGGGAGACTTAGGCACAAATTAACCAACATCTGTTGAGCACTTGCTGCTTGCCAGGACCCTGCCCTTCCCCTCGTGTCTTCCTCCCTTCCAGGACTCACCCCCTCACTTACCCTCCCCCTCACTTACCCTCCCCCTCAATTCTCACAGCAACCCTGGGAGGTAGGCCTTATGGTTTCTGTTTTGCAAATGAAGAACCTGAGATTGAAGAAGAGTAGAGATTGGAGGATCAGATCCTGAGAGGTCCCATGTGCTTTCCAATAACAGTTCAGTATATTAGAAGACAGTGTGGCATCCACGGCCAAGTACTACTAGTGAGTAATACAGTAATTGCTTTTTACATTTGATAAACACGGAGAAAGGGAAGGCATTTCGGGTCATTGGGGCAGCTAGGACTTATAAGAGCAGTGCTAGGGTGGCAGCAGCATTCAGGTAGATGGTAAGGAGAATTAAGTTAGAGAGACAGGATCCTCAGTCTGGTTCAGAAGTAAATATATAAGGGCCTGTTCTATGGAATGTAGTGAGAAGTGGTTAAATAAGATGAATCCCAGGAAACCTCAAAAGAAGGCTTATAGAGCCCCATAGGGTGGTAGATTCACACTATAGACCTGAGAGCCAGATCTGTTCAGTTCCAAATTTGATTCTTGCACTTACCAGCTCTGTGTCCTCAGGCAAGTCATTTTACCTTTCCAAGCCTCACTCCCAACTCTGTAAAACAAGGATAATACCTACCTCAGGGTTATTATGATAATAAAACTAGTATTTATTTCAGGCCGGCGTGGTGGCTCAACCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGATTTTGAGACTAGCCTGGCCAACATG	TCTTAATCTTGCATAGGAGTGAGCATTATAAAGTGAATTGAAAACACGATGGGAATGCAGAACATAAGGAGCTGAGAAATCTATTTTCAGGCTGAGATAATTTGTATCCAAATTTACAATCTAAAGAAAAATCAGGAGTGCCAATCTAACAAAAATGAGTCCAAAGACACACATAGTTCCCACCAAACCATAACAAGTTTTCAGACCTAAGATGTTAGATCACTTAATCCCTCCAGCCCCAGTTTCCTTATGTGTAAAACAAGGGATCCTGATCAGCTGGTCATTAGGATCCTTTCCAGGGCTAATATATGCCCTAATATTTAAAGGCTAAAACATGTAAACTAGTGAAATACTAATCATTTGCTTTCATCCTATAGTGATATGACTTTTTTCCTTTTTAATCTGTTTAAGGACATTACAGTCTATCCCGTTAAGCTTACAACTAAACCTTCAAATCTATTCAGCTATAAAAATCTTACAAAATGCTCCTCAGATCATTAACTTGCATATTTAACAATGGTAACTGCAATCTGATGAAACAACAGCATCTACCTAAGACCAAAATGAATTACTGAAATATATTCAACTTCTGTGTAAATAATAAATCTTACCACGTGTTTTAAGTGCTAAATATCTTGAATTGTTGGTCATTTCTATGGCAATCTGAAGGCAAAGTCGTGCCCCAGGGTGTAAGACTTGAATTTATGGGTACTATTTAACACCTAACTAAAAAACTGAAGATACATAGTCTTTGCATCACCTCACTGGGCTGGTGGTTGGGATAAAAAAATTGTTGAAACCAGAGTAATTTTTGAAAAAAAAATTCAAAACAAGTTATAGTAAGTTACAGTAAATAAAGTAGCTTAGTAAGTTACAGTAAATAAAGTAGCGTGTAAACATTTTACTGTTATCAGTAGCAGCCCAGTTTCTAATCAGCCACTGGAAACCCAAAGAAAGACTAAAGTAGTAACAAGTTTGTCTCCTGGTTTAGATTAATTACAAACTAGTTTTGGCAACTGCTTGTTCCATCAAATATGTCATGACAAAGTAATAAAATGTTAAAACGCATGCTGGAAAAAAAAAAAGACGTACTTGGAACAAAAAACTTGCATCGGACCAAGTGTAACGCTATCCTCCAGATTTCTCTCAACAGGGCCGCCTTAAGTCCATGAGTAGAAGGGCGCTGCGGCGGACGCTGGCAGCCACAGGTTGAATGACAAAGAGCCCCCGTCAGCACCACTCCCAGGAGTCTGCGGGCTGCCCCGTCCCCTCCGCAAAGTCTACTCGAACCCTGCAGTCACGCCTTGGCTGTGGGGAATGCGGCTCTCCGCACCACTCTCGCAAGTCACCAGGTGGGGCAAGGATCGGCGGGCCAAGAAGGTTGGGGCGGACAATGTCACGAATCATAAATAACTTCTGCCCCGAGTCCCTTCCCTTGGGGCAGAAGCGGCCAGGAGAGTCTGGAGGTACCACATGCAGCAGCCTCATGTTATCCCTTTTCCAGATCAAAGCATCTCTCGAGGAGCCTATTGAAGACTTAGGGGGGAAGGGACTTCCCCACCGTCACCGGGCACCACGACCCAACTCCTCGGCCAGGCCTGGGACCGGCATCTTAGCACGGGGCCCGCGGCTCGGCTAAGAGAGGCGCTGACCCCAGCGCCTCAAGGTCTCCTTCACCAGCACTGCAGTCCGAGGCCACGCGGCTGCCTGTGACCACGATGCCCTCTGCTGGGCCGCCTCCCTCCGCCGGAGACAAAGTCTCCCAACCCCGGAGGTCCCCTCCGACCCCACCAGGGCAGCGAGGGCACCGTGGGGTCCGCGCCGCGTGCCGCCGGCTGTTACCCAACTAACCGTTATATGCGCGGATCGCAGCGCCGAGCGTGTGCGTGACGTGGTGGCGCAGGCTGGAGTTCCACGGGGCCCAGGGTCCGGCTCCCGTCCTTCGCTCGCTGCCTCGTTTGCTTGTTCCAGTACCCACGCAGCTAGCCAGTCACGTCGCAGCTCACCACTTTGTCTGGCCGGGCCAGCGAGGCTGCCTTATAACCCGCCGGGGGCCGGAGCATGCGCGCAGGGGGCGGAGTCGTCTCTCCCGGCCGCCGCCCCCTCCCCGCCACACAGACATCCGAACTGCAGCCCGCGCCTCCACACGCTTTCAGCCGCGCGCGCCCTCTAGCTCGCCCGCGCGCGCCGGCGCCCCCTCCCCGCCACGTGACCGGCGTCCCAGTCCGACCCGCGCGCTGCGCCCCTGCTGAGCGGCGCGGAGCTACCACGCCCTGCCAGACTCGCCCTTGGGTCCCTGTCTGACGAGCTCTAGGCAATCTGCCCTCGTTCGGGACACAACCATCGGTCTCACCCCTCAGTTTCTGCCAGAGAAAAAGGAAAAGTCACCGAGAGGCCTGACCCTGACGGGTGGGGGAGATGCGCGTGCGGAGTAGCGGGAAGCGACTGAGGAGCGGGGAATGGGCAGCATTTGAATGGATGCGGGTGCCGCTGGCACCCGGGAAGACGCTGGGGGCCGGCGCTGTAGAGCCGGGCATGGGCTGGGATGTGTTTGGATTCCAATCCGGGCCTGACACCAGTTCAGTGACCTCGGGAAGTTCCCCAACCCTCCGGGCCTGTTTCCTCCCTCTGAAGTGGCGACAGTAGTAGAACCGACCTCGTAGGCTCATCGGGAGGTCCTGATGGGAGAACCCATGCAACTTGCCACCATAGAGCCAGGCCCGCGGCGGTTGGCGCCTGGTGGGTATTAAAGACGAGTCGGGAAAGAAGAGCAGGTAAGAGGGTGGGGAGACTGGCCCAGTGGGTTGGGGTGTGCACCTCGGCCACGTGGAAAAGCGAGAATGCAGAGGCCGGACGCTTATGGACGATGCATATGTGGGGCCGGATAGAATTGTGGCAGGCGGCGCTGGGGCTGATGCTCCTCACCCGGATTATCCTCTCTAATCCTCAGCCCTGTGAAGTGGGCACTGCCCTGAACATTTTGTAAATAAGGGACCCGAGGCTCAGAGAGGTGAAGTAACTTTCCAGACAGCCCAGCTCGTCAGCGGCCAGCATTTGAAGTCACACTCCAGAGCCTGTTTTTAACATAATAGCCGCTGTGACCGCATAACCAACGTGTGTGTTGAAGTGATCAAATAACCATGGAGTGTCTTTGATGTCCAGGACTTTTGAGAAATACCGAAAAATATGAGGCAAGGCCCCTGCCTTCAAAGAGCTTGCAAGTTTTTGGGGGAGACTTAGGCACAAATTAACCAACATCTGTTGAGCACTTGCTGCTTGCCAGGACCCTGCCCTTCCCCTCGTGTCTTCCTCCCTTCCAGGACTCACCCCCTCACTTACCCTCCCCCTCACTTACCCTCCCCCTCAATTCTCACAGCAACCCTGGGAGGTAGGCCTTATGGTTTCTGTTTTGCAAATGAAGAACCTGAGATTGAAGAAGAGTAGAGATTGGAGGATCAGATCCTGAGAGGTCCCATGTGCTTTCCAATAACAGTTCAGTATATTAGAAGACAGTGTGGCATCCACGGCCAAGTACTACTAGTGAGTAATACAGTAATTGCTTTTTACATTTGATAAACACGGAGAAAGGGAAGGCATTTCGGGTCATTGGGGCAGCTAGGACTTATAAGAGCAGTGCTAGGGTGGCAGCAGCATTCAGGTAGATGGTAAGGAGAATTAAGTTAGAGAGACAGGATCCTCAGTCTGGTTCAGAAGTAAATATATAAGGGCCTGTTCTATGGAATGTAGTGAGAAGTGGTTAAATAAGATGAATCCCAGGAAACCTCAAAAGAAGGCTTATAGAGCCCCATAGGGTGGTAGATTCACACTATAGACCTGAGAGCCAGATCTGTTCAGTTCCAAATTTGATTCTTGCACTTACCAGCTCTGTGTCCTCAGGCAAGTCATTTTACCTTTCCAAGCCTCACTCCCAACTCTGTAAAACAAGGATAATACCTACCTCAGGGTTATTATGATAATAAAACTAGTATTTATTTCAGGCCGGCGTGGTGGCTCAACCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGATTTTGAGACTAGCCTGGCCAACAT	benign	13,314
Evaluate the clinical significance of the mutation at chromosome 1, position 113116443 in gene LRIG2 (leucine rich repeats and immunoglobulin like domains 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	benign	CATTTTTTTTTTTTTTAATGTTTTCCTGTTAGAGACACCCTCATTTATTAGACCCCTGGAGGATAAGACAGTAACACGAGGTGAAACTGCGGTGTTACAGTGCATAGCTGGAGGGAGTCCTGCCCCTCGTCTCAACTGGACTAAAGATGATGGGCCTTTGCTGGTGACAGAACGACATTTCTTTGCTGCAGCCAATCAGCTTCTCATCATTGTAGATGCCGGGCTAGAAGATGCTGGGAAATATACCTGCATTATGTCTAACACCCTTGGGACAGAACGTGGCCACATTTACCTAAATGTCATTTCATCCCCCAATTGTGACTCTTCCCAGAGTAGCATTGGGCATGAAGATGATGGCTGGACCACAGTTGGCATTGTCATCATTGTTGTGGTCTGCTGTGTTGTTGGCACTTCTTTGATCTGGGTCATTGTTATTTACCACATGAGAAGGAAAAATGAAGACTATAGTATCACAAACACAGGTAAGTAGTACCCACATGACACCTATGGCTTGTACTTCAGTCAAGAATGTAGTATAGGATTAATTGTACAATATAAAAAACTGAGAGCTGGTCATAGTAGCACATGCCTGTACTCCCAGCTACTCAGGAGGATGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTCAAGGCCCACCTGGGCAACATAGCAAGACCTCATCTTCCCCCTCAAAAAACTGAAGAGCTGTGATACATTACCTGATATGTGATAGAAGGGAGTTTTTGTTGTTAAAATGTTCAACTTCTTTGATATAACAGAACCTCTTTGAGGAATAGGTTCATAACAGAACCTCTTTGAGGAAAGAATTTTGTTTATTTGAGATAGGGTGTTACTGTAATGCCCAGGTCAGAGTGTATCGGTACATTCATGGCTCACTGCAGCGTTGACTTCCCAGGCTCAGGTGATTCTCCCATCTCGGCCTTCTGAGAAGCGGGGACTATAGGCATGTGCCACCGCGCCTAAGTTTTTATATTTTTAGTAGAGTCGGGTTTTGCCATGTTGCCCAAGCTGGTCTCAAACTCCTGGGCTCTAGCAATTTGTCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTCTGACCAATTTTAAGAATTTGTAAATTTTTTTTTTTTTTTTTGAGATAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGCGGCATGATCTTGGCTCAATGCAACTTCCACTTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTTGAGACGGGGTTTCACCATGTTGAACAGGATGGTCTCAATCTTTTGACCTCGTGATCCACCCACCTTGGCCTCCCAGAGGGCTGGGATTACAAGCGTGAGCCACCACGCCCGGCCAAACTTTACTTCTAAAAACGCATTACAGATGCATTCTTTTTAATGTCTAAGGCTCCTTTTCATCATAATTTTGCTGTAAGGAAGAGTGGAGCCCTTGTGATTGAGATCAGTCTCTTTTTTTCCCTTGAATATCAAACTGGATCATTGAGGTCAGTCTTTTACACCTCTCACCCTGGAATCCTGCAAGAAAAGAAATCTAGGCAGATAGATTATGAAAGTGTGGCAGTAGATAAGATTTCAACCTTTAGGTTTTGTTTCTTTCAATGAAACTTTTAAAGTGAAGCTTTGAGAAGAATTCTAGTGAGAAATAGTTTTAGGGGAAGTACCAAGAGCTGTTGCGGTCCTAGGTACGTACAGTTTTTCTTGCTAATAGTATCAAAGTGGAACACATTTGCAAAATAGTCTTCTGAGTGTTGGCTTCAACTGCCTACCTTTGAGAGTTAAAAATGTCTCTTTTACAGAGGAGCTCAATCTGCCTGCAGACATTCCCAGCTACTTGTCTTCCCAAGGAACGCTGTCTGAGCCACAGGAAGGCTACAGCAACTCTGAGGCAGGCAGTCATCAGCAACTTATGCCTCCTGCCAATGGATATATACACAAAGGCACTGACGGTAATGACTCTGTTGTTTATGGTTACAATTTCAGCCTATTCTATTGAGTTTACTTTTCAGTGTGTAGTTTCTCCATTAATCTGAAGCAATATTTTAAAGTAAGATACCTAATGAAAGCATTTAGCCACATGCAAAATAGGATGAAAATTGACTAAAGTCTTAAAAGGATATGAAAATCATCTTACAGAGTGGAGAAACACATTAAACAAGAGATCAGAGTACACAGCAGAGGCTCCCAAACTTGTGTAATTATAGGAAAGGGATATTCTGCAAACTTTTTTCAGGTATCTCTTTCTTACCCTTTTCAGGCGTGGGCATCCTTCAGACCACATCCAAGGGAGGCTGGTTTCTCTTCCTGACAGGTAGACATTCAGTAAAGTTTAAAGGGTAGCTAGGAGCCAGGCATGGTGGCATGCCTGTAGTCCCATCTACCCACGAGGCTGAAGCAGGATTACTTGAGGCCAGGAGTTCGAGGCTGTATTGTGCTGTGAGTGCACCTATGAATAGCCACTGTACTCTAGCCTGGACAACATAGCAAGACTCCCCACCTCTAAAAGAAATCAACAAATGGTAGCAATGGTTCTCAGCATATACTGGAGAACATCAGAGAGATGTAAAGAGTTCCCTAATTAAATGAACCTGACATCCCAACACGTAGAGATGCGTACCCATACACAGAGTTCTTCTCCCTCCACCCTTTTCATAGCCTCGCTCCCATAGGGAGTGACAGAACTGAATGAATTAAGGGACAGAAGAATTGGGTTTAATTGATACTTCTTCCTTTTTCCAGCTCTGTGACCATGAAGCTAGTTACTTAAGATCTGAGCTTTACTTTTCTAATTTTTAAATAAAGAGACAATAATTTGTAAAGCACTTCCCCCAAGATTCTCACAGATCTTTTCAGCAAATCTGTGTGGTACTTCAAATACTATACAAATGGAAGATTTATTCCATTTCTTCAGAGACTTTTTTAGGCTGGGTGTCAACAGAACTTTATCTAATTGATAAATTGGATTTTGGCTTTTCATGAAAAATATAGTAGTTCTGACTCTTTTTTTTGTTTTTGAGAAAGCGTCTCATTCTGTTACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCCTCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGTGCGTGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTGCTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCTGGCATTTCTGACTTTTAAAAGAATACTTAAAAGTCTGTTCTTTGAAGTATGTGGGAAATAACACTGCTTTCTGGGTTAAACTAAATTACTTTTCACTCTCTTCCAATTCTAACATTCTGTTGCATGATTTTTTTTTGTTTGTTTTTTGGTTTTTTTGAGACAGAGTTTCATTCTTGTCACCCAGGCTGGAGTGCAATGGCACCATCTCAGCTCACTGTAACCTTTGCCTCCCCGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGTCACCATGCCCGGCTTATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTTCGGACCTCAGGTGATCCACCTGCCTCGGCCTCCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCTCCTGGCCTGTTGCATGATTTTGAATAAGTAACTCACTCTTTATTTCTCACTCTCTCTTCTCTCCTTCATCATTCAGTTTTCAAAGCACATAATAATCCAGGGAGTTCATTGTTAAACCTATACTTCTGTCAACCATGTACTTGTCAGGCAGGACTTCTCATTGTCAGAAGCTTTCCCTAGGGATGCTTGTAGCAATTGGTGTTACTTAACCTCTTGACTCATTAAAGTAACATGGTTTTTCATGAAGTGAAGTCATCATAACTCCTTATTCTCTGACTT	CATTTTTTTTTTTTTTAATGTTTTCCTGTTAGAGACACCCTCATTTATTAGACCCCTGGAGGATAAGACAGTAACACGAGGTGAAACTGCGGTGTTACAGTGCATAGCTGGAGGGAGTCCTGCCCCTCGTCTCAACTGGACTAAAGATGATGGGCCTTTGCTGGTGACAGAACGACATTTCTTTGCTGCAGCCAATCAGCTTCTCATCATTGTAGATGCCGGGCTAGAAGATGCTGGGAAATATACCTGCATTATGTCTAACACCCTTGGGACAGAACGTGGCCACATTTACCTAAATGTCATTTCATCCCCCAATTGTGACTCTTCCCAGAGTAGCATTGGGCATGAAGATGATGGCTGGACCACAGTTGGCATTGTCATCATTGTTGTGGTCTGCTGTGTTGTTGGCACTTCTTTGATCTGGGTCATTGTTATTTACCACATGAGAAGGAAAAATGAAGACTATAGTATCACAAACACAGGTAAGTAGTACCCACATGACACCTATGGCTTGTACTTCAGTCAAGAATGTAGTATAGGATTAATTGTACAATATAAAAAACTGAGAGCTGGTCATAGTAGCACATGCCTGTACTCCCAGCTACTCAGGAGGATGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTCAAGGCCCACCTGGGCAACATAGCAAGACCTCATCTTCCCCCTCAAAAAACTGAAGAGCTGTGATACATTACCTGATATGTGATAGAAGGGAGTTTTTGTTGTTAAAATGTTCAACTTCTTTGATATAACAGAACCTCTTTGAGGAATAGGTTCATAACAGAACCTCTTTGAGGAAAGAATTTTGTTTATTTGAGATAGGGTGTTACTGTAATGCCCAGGTCAGAGTGTATCGGTACATTCATGGCTCACTGCAGCGTTGACTTCCCAGGCTCAGGTGATTCTCCCATCTCGGCCTTCTGAGAAGCGGGGACTATAGGCATGTGCCACCGCGCCTAAGTTTTTATATTTTTAGTAGAGTCGGGTTTTGCCATGTTGCCCAAGCTGGTCTCAAACTCCTGGGCTCTAGCAATTTGTCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTCTGACCAATTTTAAGAATTTGTAAATTTTTTTTTTTTTTTTTGAGATAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGCGGCATGATCTTGGCTCAATGCAACTTCCACTTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTTGAGACGGGGTTTCACCATGTTGAACAGGATGGTCTCAATCTTTTGACCTCGTGATCCACCCACCTTGGCCTCCCAGAGGGCTGGGATTACAAGCGTGAGCCACCACGCCCGGCCAAACTTTACTTCTAAAAACGCATTACAGATGCATTCTTTTTAATGTCTAAGGCTCCTTTTCATCATAATTTTGCTGTAAGGAAGAGTGGAGCCCTTGTGATTGAGATCAGTCTCTTTTTTTCCCTTGAATATCAAACTGGATCATTGAGGTCAGTCTTTTACACCTCTCACCCTGGAATCCTGCAAGAAAAGAAATCTAGGCAGATAGATTATGAAAGTGTGGCAGTAGATAAGATTTCAACCTTTAGGTTTTGTTTCTTTCAATGAAACTTTTAAAGTGAAGCTTTGAGAAGAATTCTAGTGAGAAATAGTTTTAGGGGAAGTACCAAGAGCTGTTGCGGTCCTAGGTACGTACAGTTTTTCTTGCTAATAGTATCAAAGTGGAACACATTTGCAAAATAGTCTTCTGAGTGTTGGCTTCAACTGCCTACCTTTGAGAGTTAAAAATGTCTCTTTTACAGAGGAGCTCAATCTGCCTGCAGACATTCCCAGCTACTTGTCTTCCCAAGGAACGCTGTCTGAGCCACAGGAAGGCTACAGCAACTCTGAGGCAGGCAGTCATCAGCAACTTATGCCTCCTGCCAATGGATATATACACAAAGGCACTGACGGTAATGACTGTTGTTTATGGTTACAATTTCAGCCTATTCTATTGAGTTTACTTTTCAGTGTGTAGTTTCTCCATTAATCTGAAGCAATATTTTAAAGTAAGATACCTAATGAAAGCATTTAGCCACATGCAAAATAGGATGAAAATTGACTAAAGTCTTAAAAGGATATGAAAATCATCTTACAGAGTGGAGAAACACATTAAACAAGAGATCAGAGTACACAGCAGAGGCTCCCAAACTTGTGTAATTATAGGAAAGGGATATTCTGCAAACTTTTTTCAGGTATCTCTTTCTTACCCTTTTCAGGCGTGGGCATCCTTCAGACCACATCCAAGGGAGGCTGGTTTCTCTTCCTGACAGGTAGACATTCAGTAAAGTTTAAAGGGTAGCTAGGAGCCAGGCATGGTGGCATGCCTGTAGTCCCATCTACCCACGAGGCTGAAGCAGGATTACTTGAGGCCAGGAGTTCGAGGCTGTATTGTGCTGTGAGTGCACCTATGAATAGCCACTGTACTCTAGCCTGGACAACATAGCAAGACTCCCCACCTCTAAAAGAAATCAACAAATGGTAGCAATGGTTCTCAGCATATACTGGAGAACATCAGAGAGATGTAAAGAGTTCCCTAATTAAATGAACCTGACATCCCAACACGTAGAGATGCGTACCCATACACAGAGTTCTTCTCCCTCCACCCTTTTCATAGCCTCGCTCCCATAGGGAGTGACAGAACTGAATGAATTAAGGGACAGAAGAATTGGGTTTAATTGATACTTCTTCCTTTTTCCAGCTCTGTGACCATGAAGCTAGTTACTTAAGATCTGAGCTTTACTTTTCTAATTTTTAAATAAAGAGACAATAATTTGTAAAGCACTTCCCCCAAGATTCTCACAGATCTTTTCAGCAAATCTGTGTGGTACTTCAAATACTATACAAATGGAAGATTTATTCCATTTCTTCAGAGACTTTTTTAGGCTGGGTGTCAACAGAACTTTATCTAATTGATAAATTGGATTTTGGCTTTTCATGAAAAATATAGTAGTTCTGACTCTTTTTTTTGTTTTTGAGAAAGCGTCTCATTCTGTTACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCCTCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGTGCGTGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTGCTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCTGGCATTTCTGACTTTTAAAAGAATACTTAAAAGTCTGTTCTTTGAAGTATGTGGGAAATAACACTGCTTTCTGGGTTAAACTAAATTACTTTTCACTCTCTTCCAATTCTAACATTCTGTTGCATGATTTTTTTTTGTTTGTTTTTTGGTTTTTTTGAGACAGAGTTTCATTCTTGTCACCCAGGCTGGAGTGCAATGGCACCATCTCAGCTCACTGTAACCTTTGCCTCCCCGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGTCACCATGCCCGGCTTATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTTCGGACCTCAGGTGATCCACCTGCCTCGGCCTCCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCTCCTGGCCTGTTGCATGATTTTGAATAAGTAACTCACTCTTTATTTCTCACTCTCTCTTCTCTCCTTCATCATTCAGTTTTCAAAGCACATAATAATCCAGGGAGTTCATTGTTAAACCTATACTTCTGTCAACCATGTACTTGTCAGGCAGGACTTCTCATTGTCAGAAGCTTTCCCTAGGGATGCTTGTAGCAATTGGTGTTACTTAACCTCTTGACTCATTAAAGTAACATGGTTTTTCATGAAGTGAAGTCATCATAACTCCTTATTCTCTGACTTNN	benign	13,323
The chromosome 1, position 113898754 genetic variant in gene AP4B1: benign or pathogenic? If pathogenic, indicate disease(s).	pathogenic; ['Abnormality_of_the_nervous_system', 'Hereditary_spastic_paraplegia_47', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Spastic_paraplegia']	TAAGGTTTCCTCAGGTTTGGGGCCTTTGGCCCTATTGGGTTTTAGTGTTTCAGTGGAAGCTGCTCAAAGAATTTCTCTAAATTTTTCACAAAAATGGTTACTAACCTAGAGTGCACATCAGAGTCATCTGTGAAGCTTCTTAAAAATGTATCTGTCAGCCGGGCACGGTGGCTTACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCGTCTCTATTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTTCCAGCTACTCGGGAGCCTGAGGCAGGAGAATTGCTTGAAACCAGGAGGCGGAAGTTGCAGTGAGCTAAGATGGCATTACTGCACTCCAGCCTGGGCAACAGAGCTAGACTCTGTTTCAAAAAAAAAAAAAAAGTTATCTGTCTAGGTCCAACACCCCTGAATATTTAAGTCAGTAGACCTGTGATTACGTCCAAATCTTTGTAAAAATTTCACAAATGATTATAATTTTCATTCTAGCTAAAAACTCCATGGTCTAAATCTCTGACTCAAAACTGTTCAAGAGAAGCGGGGCACAGTGGCTTATGCCTGTAATCCTAGCTCTCTGGGATGCTGAGGTGGGTGATCACTTGAGGCTAGGAATTCTAGACCAGCCTAGACAACATAGCAAAACCCTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTAATCACAGCTACTCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAGTTTGGGAGGTAGAGGTTGCAGTGGGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACTCTATCTCAAGCAAAGCAAAACAAAACAAAACAGAACTGTTCAAGAGAACAATGGTATCACAGTTTTGTAATAAAACCCGTCGGATAAATCTTGTTTTTATAATTTATATGCCATCTATATCCAAAAGAGAATCTAAGGTGGCAATCAATTCGAAGAGTGCCCACTTCAAACACAGGGTAGAGAGAATAATTAGATTCCATTTCAAAGGGCAGGGTTTCAAGCATTCTCCCCCTACCTAGAAGTAAAGGAGAATTACAGTCTACCTCACTATCTTGAATGTTCTCTTCACAGCCGGGCAGGGCCTGACATACAGCTTCAGTACACTGAGGACACAACCAAACCAGGTCTCGGAAAGTCTGCACCACCACTACAATACAGGCCAGGGTACAAGAGCACAGGATTAGAGCCTCCAGGTAGGCAGGAATCTTAAGAACAGTCATGTATTCAGACTCATGATTCTGGCTGGATTTCTGTAAAATGGGTTTTGGAGGTGTGGTCAATGGTTATCTAAGAAATGTAATGAAATAAGCAATAATTTCTTGAATGCATATTGCTCTTATCAGATTGACATGAGGATAAATGAACTAATGTATGAAAAAGCACTTTGTAAAACATAAAGCTGTATGCAAATGTGGGGTAGTATTGCTGTTGAATGAAACACTAAAGACAGTATAAATAGAACCACCAGGCCTGGGAAAATGATAACACAAGTGAGGTGCCTAGGGTTCAAAATTGAAGAAGACATGCAGGATTGGCTCTTGCAGGAACCTAAGAGTGAGTGCCTTCTTAAATTTTGCATCCTAGGCATCTTGCTTGACTTACCCTTGTCCCAACCCTGGAAGCCACTGCCTATGGCATACTGCCATAAAACAAAAAGAGAAGTAAAGATGGTGAAATATCAAGCAAGGTCATCCTAGTAGCCTTCATTATCTATAGTACAGCCTTATAGATCATGGCAGCCTGAAGACTCAATATCCTATTAGATCTATAGACTTTATGCTTCTCTAACAGCAACAGATGATGATGCAAGGAAAAGTTCAAATCTCTATATTACTCATTCAACAACAAACATGTTTTGAGCAACTACTATAGGCCAGGCACCTGACAAAAAAAACAAAAATCCTAAAAAGGCAGGCATTACCTGTGGTAATGTGCTCTTGTCGAAGACCCAGCAACTCTGTTAAAATCTGAACACATTGATCTGTGTAAGTCCTGGCAATGCCACCTACAAAAGAAGGGAAAGCAGAGAAAACTGCTAAGTGAAATATTAGCACCTCAATCTAAAATCATCTCCCACCAGTGAAAGACAAAAGAAACAGAATTATCTAAAAAAAAAAAAAAGAAAAAAATTCACTCCTTACTTGATGAACTAAGAATATAAGTTTACTATAAAGGGAACTTTGGTAAAAATCATTTTTTCTCACTGACTACTAGAAAACTGAAAGCTCATAGCAAAACAATTCCCCATTAAACAAGGTTGAAAACTTATAGTAACAAAGGTATTTACATGGCAGCCAGATATGAGGTACCCTTTTTGTTGCAGCACACCTGCAATGGAGTATTTTTGTGGGGGACACTTGACAGCAGTCTCCTAAGGATTTCTTGTCTCCTCTTTGCTCCCTCTTCTCTGCCCCTAAAATAACCATGCTTTATTCCAAATATGAGGGTTGCTCCTCCTCCTGTACTTGAAATCCTTCAAAACTTGGCTCAACAGCTGTTTTCAGTTTTTGAGTCACTCCAGCCTTTCAAATTCCAGACAGGGTACTATGAAAAAGTCTGTAAGATTTAGGAATTATTCTGTGTTGGTCTACATTCAGCACAATACATAGCCCATAGCAGAAGCTCAATAAATGACTGGTGGATTAACATAGGACTTTGAGTCAGGAAAGCTGGATTTCAGTCCCATTTCTAAAACTATGTGCCCTTTTGGCAATTTGATAACTGTTTTTGTGCCTGAGTTTCTTCATCTTTAAAATGAAGTTAATGACATTTGTCTACTTTTCCTGACTGTCTCACGATACTGTGGTAAGATGATGTATAGGAAAGCATTTTGGATAGAAGACAACAACAATTTTAAGTATTGTAGTTTGTGTTACCTGTATTCTCCATCCTGGAAGATACAGCAACACCAATCTTGACCAAAAAAAAACAAAAAACAAAAAAAAACTCTCTTCCCCCGTGTTTGTAGTCACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAGAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATG	TAAGGTTTCCTCAGGTTTGGGGCCTTTGGCCCTATTGGGTTTTAGTGTTTCAGTGGAAGCTGCTCAAAGAATTTCTCTAAATTTTTCACAAAAATGGTTACTAACCTAGAGTGCACATCAGAGTCATCTGTGAAGCTTCTTAAAAATGTATCTGTCAGCCGGGCACGGTGGCTTACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCGTCTCTATTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTTCCAGCTACTCGGGAGCCTGAGGCAGGAGAATTGCTTGAAACCAGGAGGCGGAAGTTGCAGTGAGCTAAGATGGCATTACTGCACTCCAGCCTGGGCAACAGAGCTAGACTCTGTTTCAAAAAAAAAAAAAAAGTTATCTGTCTAGGTCCAACACCCCTGAATATTTAAGTCAGTAGACCTGTGATTACGTCCAAATCTTTGTAAAAATTTCACAAATGATTATAATTTTCATTCTAGCTAAAAACTCCATGGTCTAAATCTCTGACTCAAAACTGTTCAAGAGAAGCGGGGCACAGTGGCTTATGCCTGTAATCCTAGCTCTCTGGGATGCTGAGGTGGGTGATCACTTGAGGCTAGGAATTCTAGACCAGCCTAGACAACATAGCAAAACCCTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTAATCACAGCTACTCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAGTTTGGGAGGTAGAGGTTGCAGTGGGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACTCTATCTCAAGCAAAGCAAAACAAAACAAAACAGAACTGTTCAAGAGAACAATGGTATCACAGTTTTGTAATAAAACCCGTCGGATAAATCTTGTTTTTATAATTTATATGCCATCTATATCCAAAAGAGAATCTAAGGTGGCAATCAATTCGAAGAGTGCCCACTTCAAACACAGGGTAGAGAGAATAATTAGATTCCATTTCAAAGGGCAGGGTTTCAAGCATTCTCCCCCTACCTAGAAGTAAAGGAGAATTACAGTCTACCTCACTATCTTGAATGTTCTCTTCACAGCCGGGCAGGGCCTGACATACAGCTTCAGTACACTGAGGACACAACCAAACCAGGTCTCGGAAAGTCTGCACCACCACTACAATACAGGCCAGGGTACAAGAGCACAGGATTAGAGCCTCCAGGTAGGCAGGAATCTTAAGAACAGTCATGTATTCAGACTCATGATTCTGGCTGGATTTCTGTAAAATGGGTTTTGGAGGTGTGGTCAATGGTTATCTAAGAAATGTAATGAAATAAGCAATAATTTCTTGAATGCATATTGCTCTTATCAGATTGACATGAGGATAAATGAACTAATGTATGAAAAAGCACTTTGTAAAACATAAAGCTGTATGCAAATGTGGGGTAGTATTGCTGTTGAATGAAACACTAAAGACAGTATAAATAGAACCACCAGGCCTGGGAAAATGATAACACAAGTGAGGTGCCTAGGGTTCAAAATTGAAGAAGACATGCAGGATTGGCTCTTGCAGGAACCTAAGAGTGAGTGCCTTCTTAAATTTTGCATCCTAGGCATCTTGCTTGACTTACCCTTGTCCCAACCCTGGAAGCCACTGCCTATGGCATACTGCCATAAAACAAAAAGAGAAGTAAAGATGGTGAAATATCAAGCAAGGTCATCCTAGTAGCCTTCATTATCTATAGTACAGCCTTATAGATCATGGCAGCCTGAAGACTCAATATCCTATTAGATCTATAGACTTTATGCTTCTCTAACAGCAACAGATGATGATGCAAGGAAAAGTTCAAATCTCTATATTACTCATTCAACAACAAACATGTTTTGAGCAACTACTATAGGCCAGGCACCTGACAAAAAAAACAAAAATCCTAAAAAGGCAGGCATTACCTGTGGTAATGTGCTCTTGTCGAAGACCCAGCAACTCTTAAAATCTGAACACATTGATCTGTGTAAGTCCTGGCAATGCCACCTACAAAAGAAGGGAAAGCAGAGAAAACTGCTAAGTGAAATATTAGCACCTCAATCTAAAATCATCTCCCACCAGTGAAAGACAAAAGAAACAGAATTATCTAAAAAAAAAAAAAAGAAAAAAATTCACTCCTTACTTGATGAACTAAGAATATAAGTTTACTATAAAGGGAACTTTGGTAAAAATCATTTTTTCTCACTGACTACTAGAAAACTGAAAGCTCATAGCAAAACAATTCCCCATTAAACAAGGTTGAAAACTTATAGTAACAAAGGTATTTACATGGCAGCCAGATATGAGGTACCCTTTTTGTTGCAGCACACCTGCAATGGAGTATTTTTGTGGGGGACACTTGACAGCAGTCTCCTAAGGATTTCTTGTCTCCTCTTTGCTCCCTCTTCTCTGCCCCTAAAATAACCATGCTTTATTCCAAATATGAGGGTTGCTCCTCCTCCTGTACTTGAAATCCTTCAAAACTTGGCTCAACAGCTGTTTTCAGTTTTTGAGTCACTCCAGCCTTTCAAATTCCAGACAGGGTACTATGAAAAAGTCTGTAAGATTTAGGAATTATTCTGTGTTGGTCTACATTCAGCACAATACATAGCCCATAGCAGAAGCTCAATAAATGACTGGTGGATTAACATAGGACTTTGAGTCAGGAAAGCTGGATTTCAGTCCCATTTCTAAAACTATGTGCCCTTTTGGCAATTTGATAACTGTTTTTGTGCCTGAGTTTCTTCATCTTTAAAATGAAGTTAATGACATTTGTCTACTTTTCCTGACTGTCTCACGATACTGTGGTAAGATGATGTATAGGAAAGCATTTTGGATAGAAGACAACAACAATTTTAAGTATTGTAGTTTGTGTTACCTGTATTCTCCATCCTGGAAGATACAGCAACACCAATCTTGACCAAAAAAAAACAAAAAACAAAAAAAAACTCTCTTCCCCCGTGTTTGTAGTCACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAGAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATGNN	pathogenic	13,356
Is chromosome 1, position 113900018, gene AP4B1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to?	pathogenic; ['Hereditary_spastic_paraplegia_47']	CACAGGATTAGAGCCTCCAGGTAGGCAGGAATCTTAAGAACAGTCATGTATTCAGACTCATGATTCTGGCTGGATTTCTGTAAAATGGGTTTTGGAGGTGTGGTCAATGGTTATCTAAGAAATGTAATGAAATAAGCAATAATTTCTTGAATGCATATTGCTCTTATCAGATTGACATGAGGATAAATGAACTAATGTATGAAAAAGCACTTTGTAAAACATAAAGCTGTATGCAAATGTGGGGTAGTATTGCTGTTGAATGAAACACTAAAGACAGTATAAATAGAACCACCAGGCCTGGGAAAATGATAACACAAGTGAGGTGCCTAGGGTTCAAAATTGAAGAAGACATGCAGGATTGGCTCTTGCAGGAACCTAAGAGTGAGTGCCTTCTTAAATTTTGCATCCTAGGCATCTTGCTTGACTTACCCTTGTCCCAACCCTGGAAGCCACTGCCTATGGCATACTGCCATAAAACAAAAAGAGAAGTAAAGATGGTGAAATATCAAGCAAGGTCATCCTAGTAGCCTTCATTATCTATAGTACAGCCTTATAGATCATGGCAGCCTGAAGACTCAATATCCTATTAGATCTATAGACTTTATGCTTCTCTAACAGCAACAGATGATGATGCAAGGAAAAGTTCAAATCTCTATATTACTCATTCAACAACAAACATGTTTTGAGCAACTACTATAGGCCAGGCACCTGACAAAAAAAACAAAAATCCTAAAAAGGCAGGCATTACCTGTGGTAATGTGCTCTTGTCGAAGACCCAGCAACTCTGTTAAAATCTGAACACATTGATCTGTGTAAGTCCTGGCAATGCCACCTACAAAAGAAGGGAAAGCAGAGAAAACTGCTAAGTGAAATATTAGCACCTCAATCTAAAATCATCTCCCACCAGTGAAAGACAAAAGAAACAGAATTATCTAAAAAAAAAAAAAAGAAAAAAATTCACTCCTTACTTGATGAACTAAGAATATAAGTTTACTATAAAGGGAACTTTGGTAAAAATCATTTTTTCTCACTGACTACTAGAAAACTGAAAGCTCATAGCAAAACAATTCCCCATTAAACAAGGTTGAAAACTTATAGTAACAAAGGTATTTACATGGCAGCCAGATATGAGGTACCCTTTTTGTTGCAGCACACCTGCAATGGAGTATTTTTGTGGGGGACACTTGACAGCAGTCTCCTAAGGATTTCTTGTCTCCTCTTTGCTCCCTCTTCTCTGCCCCTAAAATAACCATGCTTTATTCCAAATATGAGGGTTGCTCCTCCTCCTGTACTTGAAATCCTTCAAAACTTGGCTCAACAGCTGTTTTCAGTTTTTGAGTCACTCCAGCCTTTCAAATTCCAGACAGGGTACTATGAAAAAGTCTGTAAGATTTAGGAATTATTCTGTGTTGGTCTACATTCAGCACAATACATAGCCCATAGCAGAAGCTCAATAAATGACTGGTGGATTAACATAGGACTTTGAGTCAGGAAAGCTGGATTTCAGTCCCATTTCTAAAACTATGTGCCCTTTTGGCAATTTGATAACTGTTTTTGTGCCTGAGTTTCTTCATCTTTAAAATGAAGTTAATGACATTTGTCTACTTTTCCTGACTGTCTCACGATACTGTGGTAAGATGATGTATAGGAAAGCATTTTGGATAGAAGACAACAACAATTTTAAGTATTGTAGTTTGTGTTACCTGTATTCTCCATCCTGGAAGATACAGCAACACCAATCTTGACCAAAAAAAAACAAAAAACAAAAAAAAACTCTCTTCCCCCGTGTTTGTAGTCACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAGAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATGTGAGGGAGTTAATAGTGGTTAACTGGCCGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGAAGTTTGGGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCGGTAAGCCGAGATAGCGCCATTGCACTCCAGCTTAGACAACAAGAGCAAAACTCCGTCTCAAATAATAATAATAATAATGGTTAACTTTCTTTTCTACCCCACATAAGTTGTTCAATACTTTAATACATCAACAAGATCCCACAAGGTAGCAGATCTCATAATAAAAAGAGTGCTGAGGCATCCAAACCGATTTAAGAGATGGTGAGCAATGGGCTTATTGATGACAACGCCTCCTTCCTGTTTCAGAATTTCCTCTAGAGACCTCAAGCAGTTCACAACTACAATTGGATCCTGGTCACGCAGCAAACTGTATAATTCATTTACCAGGGCACCATCTATAAAAAAGAACAAAGTTCTTAGATAAAGAAGGAAAGCTTCAGAGTAACAAGGATGTAGCCAGAGTAATAGCTCCAGGTAGACAAAGTTGAACTTCTCTGCTACAAAAATGACAAAGGCCACACTAAAGTGCAAGGCAAAAAAAAAACTGCCATGTCCAGACTGTTCTAAGCAGCTAATACAAAGGATCTCATTGGGGCCCCAGAGAAAGGACTTCTCATCTCCAGAAGATACCAAGCCCTGCATCCTACTTAAAGAGATATGTACAGAACTGGGGCCACATTATTATTTTCTACCAAAGCCACACAATCTTTTTTAAAGTTATACATAATGGAGGCACATTGACCATGATGGATTACACTGAACTTACCTACTTCAGAGTCTCCATGAAGATTATGCATCTTGGCACATCCAAGGACTGCCACTCTCCTGACATATGAAGCCTTATCCCGCAGACCATTGAGAATAGGCTGTTGTATATACTCCTGCACACCAGGCATCCTAAGCAACACATCCTGGAGTTAGCCAGATTCTGAAATACTAATTTTGACATACCTCAGCCCCTGTTCACCTAACAGATGGTTTAGTAGATGCTGCACCCATCAGATCATGAAGAATTGCAGAAAGCCTCTATCAAGCTTAAAAAGCCATAATTTGACTTTTCTGTTTTTTTCTTGTTTT	CACAGGATTAGAGCCTCCAGGTAGGCAGGAATCTTAAGAACAGTCATGTATTCAGACTCATGATTCTGGCTGGATTTCTGTAAAATGGGTTTTGGAGGTGTGGTCAATGGTTATCTAAGAAATGTAATGAAATAAGCAATAATTTCTTGAATGCATATTGCTCTTATCAGATTGACATGAGGATAAATGAACTAATGTATGAAAAAGCACTTTGTAAAACATAAAGCTGTATGCAAATGTGGGGTAGTATTGCTGTTGAATGAAACACTAAAGACAGTATAAATAGAACCACCAGGCCTGGGAAAATGATAACACAAGTGAGGTGCCTAGGGTTCAAAATTGAAGAAGACATGCAGGATTGGCTCTTGCAGGAACCTAAGAGTGAGTGCCTTCTTAAATTTTGCATCCTAGGCATCTTGCTTGACTTACCCTTGTCCCAACCCTGGAAGCCACTGCCTATGGCATACTGCCATAAAACAAAAAGAGAAGTAAAGATGGTGAAATATCAAGCAAGGTCATCCTAGTAGCCTTCATTATCTATAGTACAGCCTTATAGATCATGGCAGCCTGAAGACTCAATATCCTATTAGATCTATAGACTTTATGCTTCTCTAACAGCAACAGATGATGATGCAAGGAAAAGTTCAAATCTCTATATTACTCATTCAACAACAAACATGTTTTGAGCAACTACTATAGGCCAGGCACCTGACAAAAAAAACAAAAATCCTAAAAAGGCAGGCATTACCTGTGGTAATGTGCTCTTGTCGAAGACCCAGCAACTCTGTTAAAATCTGAACACATTGATCTGTGTAAGTCCTGGCAATGCCACCTACAAAAGAAGGGAAAGCAGAGAAAACTGCTAAGTGAAATATTAGCACCTCAATCTAAAATCATCTCCCACCAGTGAAAGACAAAAGAAACAGAATTATCTAAAAAAAAAAAAAAGAAAAAAATTCACTCCTTACTTGATGAACTAAGAATATAAGTTTACTATAAAGGGAACTTTGGTAAAAATCATTTTTTCTCACTGACTACTAGAAAACTGAAAGCTCATAGCAAAACAATTCCCCATTAAACAAGGTTGAAAACTTATAGTAACAAAGGTATTTACATGGCAGCCAGATATGAGGTACCCTTTTTGTTGCAGCACACCTGCAATGGAGTATTTTTGTGGGGGACACTTGACAGCAGTCTCCTAAGGATTTCTTGTCTCCTCTTTGCTCCCTCTTCTCTGCCCCTAAAATAACCATGCTTTATTCCAAATATGAGGGTTGCTCCTCCTCCTGTACTTGAAATCCTTCAAAACTTGGCTCAACAGCTGTTTTCAGTTTTTGAGTCACTCCAGCCTTTCAAATTCCAGACAGGGTACTATGAAAAAGTCTGTAAGATTTAGGAATTATTCTGTGTTGGTCTACATTCAGCACAATACATAGCCCATAGCAGAAGCTCAATAAATGACTGGTGGATTAACATAGGACTTTGAGTCAGGAAAGCTGGATTTCAGTCCCATTTCTAAAACTATGTGCCCTTTTGGCAATTTGATAACTGTTTTTGTGCCTGAGTTTCTTCATCTTTAAAATGAAGTTAATGACATTTGTCTACTTTTCCTGACTGTCTCACGATACTGTGGTAAGATGATGTATAGGAAAGCATTTTGGATAGAAGACAACAACAATTTTAAGTATTGTAGTTTGTGTTACCTGTATTCTCCATCCTGGAAGATACAGCAACACCAATCTTGACCAAAAAAAAACAAAAAACAAAAAAAAACTCTCTTCCCCCGTGTTTGTAGTCACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAGAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATGTGAGGGAGTTAATAGTGGTTAACTGGCCGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGAAGTTTGGGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCGGTAAGCCGAGATAGCGCCATTGCACTCCAGCTTAGACAACAAGAGCAAAACTCCGTCTCAAATAATAATAATAATAATGGTTAACTTTCTTTTCTACCCCACATAAGTTGTTCAATACTTTAATACATCAACAAGATCCCACAAGGTAGCAGATCTCATAATAAAAAGAGTGCTGAGGCATCCAAACCGATTTAAGAGATGGTGAGCAATGGGCTTATTGATGACAACGCCTCCTTCCTGTTTCAGAATTTCCTCTAGAGACCTCAAGCAGTTCACAACTACAATTGGATCCTGGTCACGCAGCAAACTGTATAATTCATTTACCAGGGCACCATCTATAAAAAAGAACAAAGTTCTTAGATAAAGAAGGAAAGCTTCAGAGTAACAAGGATGTAGCCAGAGTAATAGCTCCAGGTAGACAAAGTTGAACTTCTCTGCTACAAAAATGACAAAGGCCACACTAAAGTGCAAGGCAAAAAAAAAACTGCCATGTCCAGACTGTTCTAAGCAGCTAATACAAAGGATCTCATTGGGGCCCCAGAGAAAGGACTTCTCATCTCCAGAAGATACCAAGCCCTGCATCCTACTTAAAGAGATATGTACAGAACTGGGGCCACATTATTATTTTCTACCAAAGCCACACAATCTTTTTTAAAGTTATACATAATGGAGGCACATTGACCATGATGGATTACACTGAACTTACCTACTTCAGAGTCTCCATGAAGATTATGCATCTTGGCACATCCAAGGACTGCCACTCTCCTGACATATGAAGCCTTATCCCGCAGACCATTGAGAATAGGCTGTTGTATATACTCCTGCACACCAGGCATCCTAAGCAACACATCCTGGAGTTAGCCAGATTCTGAAATACTAATTTTGACATACCTCAGCCCCTGTTCACCTAACAGATGGTTTAGTAGATGCTGCACCCATCAGATCATGAAGAATTGCAGAAAGCCTCTATCAAGCTTAAAAAGCCATAATTTGACTTTTCTGTTTTTTTCTTGTTTTNNNNNNNN	pathogenic	13,359
A genetic alteration at chromosome 1, position 113900353, in gene AP4B1—benign or pathogenic? If pathogenic, which disease(s) is involved?	pathogenic; ['Hereditary_spastic_paraplegia_47', 'Spastic_paraplegia']	AAAATTGAAGAAGACATGCAGGATTGGCTCTTGCAGGAACCTAAGAGTGAGTGCCTTCTTAAATTTTGCATCCTAGGCATCTTGCTTGACTTACCCTTGTCCCAACCCTGGAAGCCACTGCCTATGGCATACTGCCATAAAACAAAAAGAGAAGTAAAGATGGTGAAATATCAAGCAAGGTCATCCTAGTAGCCTTCATTATCTATAGTACAGCCTTATAGATCATGGCAGCCTGAAGACTCAATATCCTATTAGATCTATAGACTTTATGCTTCTCTAACAGCAACAGATGATGATGCAAGGAAAAGTTCAAATCTCTATATTACTCATTCAACAACAAACATGTTTTGAGCAACTACTATAGGCCAGGCACCTGACAAAAAAAACAAAAATCCTAAAAAGGCAGGCATTACCTGTGGTAATGTGCTCTTGTCGAAGACCCAGCAACTCTGTTAAAATCTGAACACATTGATCTGTGTAAGTCCTGGCAATGCCACCTACAAAAGAAGGGAAAGCAGAGAAAACTGCTAAGTGAAATATTAGCACCTCAATCTAAAATCATCTCCCACCAGTGAAAGACAAAAGAAACAGAATTATCTAAAAAAAAAAAAAAGAAAAAAATTCACTCCTTACTTGATGAACTAAGAATATAAGTTTACTATAAAGGGAACTTTGGTAAAAATCATTTTTTCTCACTGACTACTAGAAAACTGAAAGCTCATAGCAAAACAATTCCCCATTAAACAAGGTTGAAAACTTATAGTAACAAAGGTATTTACATGGCAGCCAGATATGAGGTACCCTTTTTGTTGCAGCACACCTGCAATGGAGTATTTTTGTGGGGGACACTTGACAGCAGTCTCCTAAGGATTTCTTGTCTCCTCTTTGCTCCCTCTTCTCTGCCCCTAAAATAACCATGCTTTATTCCAAATATGAGGGTTGCTCCTCCTCCTGTACTTGAAATCCTTCAAAACTTGGCTCAACAGCTGTTTTCAGTTTTTGAGTCACTCCAGCCTTTCAAATTCCAGACAGGGTACTATGAAAAAGTCTGTAAGATTTAGGAATTATTCTGTGTTGGTCTACATTCAGCACAATACATAGCCCATAGCAGAAGCTCAATAAATGACTGGTGGATTAACATAGGACTTTGAGTCAGGAAAGCTGGATTTCAGTCCCATTTCTAAAACTATGTGCCCTTTTGGCAATTTGATAACTGTTTTTGTGCCTGAGTTTCTTCATCTTTAAAATGAAGTTAATGACATTTGTCTACTTTTCCTGACTGTCTCACGATACTGTGGTAAGATGATGTATAGGAAAGCATTTTGGATAGAAGACAACAACAATTTTAAGTATTGTAGTTTGTGTTACCTGTATTCTCCATCCTGGAAGATACAGCAACACCAATCTTGACCAAAAAAAAACAAAAAACAAAAAAAAACTCTCTTCCCCCGTGTTTGTAGTCACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAGAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATGTGAGGGAGTTAATAGTGGTTAACTGGCCGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGAAGTTTGGGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCGGTAAGCCGAGATAGCGCCATTGCACTCCAGCTTAGACAACAAGAGCAAAACTCCGTCTCAAATAATAATAATAATAATGGTTAACTTTCTTTTCTACCCCACATAAGTTGTTCAATACTTTAATACATCAACAAGATCCCACAAGGTAGCAGATCTCATAATAAAAAGAGTGCTGAGGCATCCAAACCGATTTAAGAGATGGTGAGCAATGGGCTTATTGATGACAACGCCTCCTTCCTGTTTCAGAATTTCCTCTAGAGACCTCAAGCAGTTCACAACTACAATTGGATCCTGGTCACGCAGCAAACTGTATAATTCATTTACCAGGGCACCATCTATAAAAAAGAACAAAGTTCTTAGATAAAGAAGGAAAGCTTCAGAGTAACAAGGATGTAGCCAGAGTAATAGCTCCAGGTAGACAAAGTTGAACTTCTCTGCTACAAAAATGACAAAGGCCACACTAAAGTGCAAGGCAAAAAAAAAACTGCCATGTCCAGACTGTTCTAAGCAGCTAATACAAAGGATCTCATTGGGGCCCCAGAGAAAGGACTTCTCATCTCCAGAAGATACCAAGCCCTGCATCCTACTTAAAGAGATATGTACAGAACTGGGGCCACATTATTATTTTCTACCAAAGCCACACAATCTTTTTTAAAGTTATACATAATGGAGGCACATTGACCATGATGGATTACACTGAACTTACCTACTTCAGAGTCTCCATGAAGATTATGCATCTTGGCACATCCAAGGACTGCCACTCTCCTGACATATGAAGCCTTATCCCGCAGACCATTGAGAATAGGCTGTTGTATATACTCCTGCACACCAGGCATCCTAAGCAACACATCCTGGAGTTAGCCAGATTCTGAAATACTAATTTTGACATACCTCAGCCCCTGTTCACCTAACAGATGGTTTAGTAGATGCTGCACCCATCAGATCATGAAGAATTGCAGAAAGCCTCTATCAAGCTTAAAAAGCCATAATTTGACTTTTCTGTTTTTTTCTTGTTTTTTTCAAGATGGGGTCTCACTTTGTCACCCAGTGGCCCGATCATAGCTCACTGCTGCCTTGAATTCCCGGGCCCAAGCCATCCTCCTGCCTCAGCCTTCCTAGTAGCTGAGACTACAGGTGCGTGTCACCATGCCCATTTAATTTTTTGTAGATATAGGCTCTCACCATCTTGCCCAGCTGGTCTCAAATTCCTGGGCTCAAGCAATCTTCCTGTCTAAGCCTCCCAAAGTGCTGGGTCTACAGGCATGAGCCACTGTGCCCAGCCTAATTTGACTTTTCATTTGGAATAATGATGCACAGGCAGCAAAAAAAGATATACACATAATTGTTTAGAG	AAAATTGAAGAAGACATGCAGGATTGGCTCTTGCAGGAACCTAAGAGTGAGTGCCTTCTTAAATTTTGCATCCTAGGCATCTTGCTTGACTTACCCTTGTCCCAACCCTGGAAGCCACTGCCTATGGCATACTGCCATAAAACAAAAAGAGAAGTAAAGATGGTGAAATATCAAGCAAGGTCATCCTAGTAGCCTTCATTATCTATAGTACAGCCTTATAGATCATGGCAGCCTGAAGACTCAATATCCTATTAGATCTATAGACTTTATGCTTCTCTAACAGCAACAGATGATGATGCAAGGAAAAGTTCAAATCTCTATATTACTCATTCAACAACAAACATGTTTTGAGCAACTACTATAGGCCAGGCACCTGACAAAAAAAACAAAAATCCTAAAAAGGCAGGCATTACCTGTGGTAATGTGCTCTTGTCGAAGACCCAGCAACTCTGTTAAAATCTGAACACATTGATCTGTGTAAGTCCTGGCAATGCCACCTACAAAAGAAGGGAAAGCAGAGAAAACTGCTAAGTGAAATATTAGCACCTCAATCTAAAATCATCTCCCACCAGTGAAAGACAAAAGAAACAGAATTATCTAAAAAAAAAAAAAAGAAAAAAATTCACTCCTTACTTGATGAACTAAGAATATAAGTTTACTATAAAGGGAACTTTGGTAAAAATCATTTTTTCTCACTGACTACTAGAAAACTGAAAGCTCATAGCAAAACAATTCCCCATTAAACAAGGTTGAAAACTTATAGTAACAAAGGTATTTACATGGCAGCCAGATATGAGGTACCCTTTTTGTTGCAGCACACCTGCAATGGAGTATTTTTGTGGGGGACACTTGACAGCAGTCTCCTAAGGATTTCTTGTCTCCTCTTTGCTCCCTCTTCTCTGCCCCTAAAATAACCATGCTTTATTCCAAATATGAGGGTTGCTCCTCCTCCTGTACTTGAAATCCTTCAAAACTTGGCTCAACAGCTGTTTTCAGTTTTTGAGTCACTCCAGCCTTTCAAATTCCAGACAGGGTACTATGAAAAAGTCTGTAAGATTTAGGAATTATTCTGTGTTGGTCTACATTCAGCACAATACATAGCCCATAGCAGAAGCTCAATAAATGACTGGTGGATTAACATAGGACTTTGAGTCAGGAAAGCTGGATTTCAGTCCCATTTCTAAAACTATGTGCCCTTTTGGCAATTTGATAACTGTTTTTGTGCCTGAGTTTCTTCATCTTTAAAATGAAGTTAATGACATTTGTCTACTTTTCCTGACTGTCTCACGATACTGTGGTAAGATGATGTATAGGAAAGCATTTTGGATAGAAGACAACAACAATTTTAAGTATTGTAGTTTGTGTTACCTGTATTCTCCATCCTGGAAGATACAGCAACACCAATCTTGACCAAAAAAAAACAAAAAACAAAAAAAAACTCTCTTCCCCCGTGTTTGTAGTCACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATGTGAGGGAGTTAATAGTGGTTAACTGGCCGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGAAGTTTGGGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCGGTAAGCCGAGATAGCGCCATTGCACTCCAGCTTAGACAACAAGAGCAAAACTCCGTCTCAAATAATAATAATAATAATGGTTAACTTTCTTTTCTACCCCACATAAGTTGTTCAATACTTTAATACATCAACAAGATCCCACAAGGTAGCAGATCTCATAATAAAAAGAGTGCTGAGGCATCCAAACCGATTTAAGAGATGGTGAGCAATGGGCTTATTGATGACAACGCCTCCTTCCTGTTTCAGAATTTCCTCTAGAGACCTCAAGCAGTTCACAACTACAATTGGATCCTGGTCACGCAGCAAACTGTATAATTCATTTACCAGGGCACCATCTATAAAAAAGAACAAAGTTCTTAGATAAAGAAGGAAAGCTTCAGAGTAACAAGGATGTAGCCAGAGTAATAGCTCCAGGTAGACAAAGTTGAACTTCTCTGCTACAAAAATGACAAAGGCCACACTAAAGTGCAAGGCAAAAAAAAAACTGCCATGTCCAGACTGTTCTAAGCAGCTAATACAAAGGATCTCATTGGGGCCCCAGAGAAAGGACTTCTCATCTCCAGAAGATACCAAGCCCTGCATCCTACTTAAAGAGATATGTACAGAACTGGGGCCACATTATTATTTTCTACCAAAGCCACACAATCTTTTTTAAAGTTATACATAATGGAGGCACATTGACCATGATGGATTACACTGAACTTACCTACTTCAGAGTCTCCATGAAGATTATGCATCTTGGCACATCCAAGGACTGCCACTCTCCTGACATATGAAGCCTTATCCCGCAGACCATTGAGAATAGGCTGTTGTATATACTCCTGCACACCAGGCATCCTAAGCAACACATCCTGGAGTTAGCCAGATTCTGAAATACTAATTTTGACATACCTCAGCCCCTGTTCACCTAACAGATGGTTTAGTAGATGCTGCACCCATCAGATCATGAAGAATTGCAGAAAGCCTCTATCAAGCTTAAAAAGCCATAATTTGACTTTTCTGTTTTTTTCTTGTTTTTTTCAAGATGGGGTCTCACTTTGTCACCCAGTGGCCCGATCATAGCTCACTGCTGCCTTGAATTCCCGGGCCCAAGCCATCCTCCTGCCTCAGCCTTCCTAGTAGCTGAGACTACAGGTGCGTGTCACCATGCCCATTTAATTTTTTGTAGATATAGGCTCTCACCATCTTGCCCAGCTGGTCTCAAATTCCTGGGCTCAAGCAATCTTCCTGTCTAAGCCTCCCAAAGTGCTGGGTCTACAGGCATGAGCCACTGTGCCCAGCCTAATTTGACTTTTCATTTGGAATAATGATGCACAGGCAGCAAAAAAAGATATACACATAATTGTTTAGAGN	pathogenic	13,366
Located at chromosome 1 position 113901814, the variant affecting gene AP4B1 (adaptor related protein complex 4 subunit beta 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?	pathogenic; ['Hereditary_spastic_paraplegia_47', 'Inborn_genetic_diseases', 'Spastic_paraplegia']	CACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAGAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATGTGAGGGAGTTAATAGTGGTTAACTGGCCGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGAAGTTTGGGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCGGTAAGCCGAGATAGCGCCATTGCACTCCAGCTTAGACAACAAGAGCAAAACTCCGTCTCAAATAATAATAATAATAATGGTTAACTTTCTTTTCTACCCCACATAAGTTGTTCAATACTTTAATACATCAACAAGATCCCACAAGGTAGCAGATCTCATAATAAAAAGAGTGCTGAGGCATCCAAACCGATTTAAGAGATGGTGAGCAATGGGCTTATTGATGACAACGCCTCCTTCCTGTTTCAGAATTTCCTCTAGAGACCTCAAGCAGTTCACAACTACAATTGGATCCTGGTCACGCAGCAAACTGTATAATTCATTTACCAGGGCACCATCTATAAAAAAGAACAAAGTTCTTAGATAAAGAAGGAAAGCTTCAGAGTAACAAGGATGTAGCCAGAGTAATAGCTCCAGGTAGACAAAGTTGAACTTCTCTGCTACAAAAATGACAAAGGCCACACTAAAGTGCAAGGCAAAAAAAAAACTGCCATGTCCAGACTGTTCTAAGCAGCTAATACAAAGGATCTCATTGGGGCCCCAGAGAAAGGACTTCTCATCTCCAGAAGATACCAAGCCCTGCATCCTACTTAAAGAGATATGTACAGAACTGGGGCCACATTATTATTTTCTACCAAAGCCACACAATCTTTTTTAAAGTTATACATAATGGAGGCACATTGACCATGATGGATTACACTGAACTTACCTACTTCAGAGTCTCCATGAAGATTATGCATCTTGGCACATCCAAGGACTGCCACTCTCCTGACATATGAAGCCTTATCCCGCAGACCATTGAGAATAGGCTGTTGTATATACTCCTGCACACCAGGCATCCTAAGCAACACATCCTGGAGTTAGCCAGATTCTGAAATACTAATTTTGACATACCTCAGCCCCTGTTCACCTAACAGATGGTTTAGTAGATGCTGCACCCATCAGATCATGAAGAATTGCAGAAAGCCTCTATCAAGCTTAAAAAGCCATAATTTGACTTTTCTGTTTTTTTCTTGTTTTTTTCAAGATGGGGTCTCACTTTGTCACCCAGTGGCCCGATCATAGCTCACTGCTGCCTTGAATTCCCGGGCCCAAGCCATCCTCCTGCCTCAGCCTTCCTAGTAGCTGAGACTACAGGTGCGTGTCACCATGCCCATTTAATTTTTTGTAGATATAGGCTCTCACCATCTTGCCCAGCTGGTCTCAAATTCCTGGGCTCAAGCAATCTTCCTGTCTAAGCCTCCCAAAGTGCTGGGTCTACAGGCATGAGCCACTGTGCCCAGCCTAATTTGACTTTTCATTTGGAATAATGATGCACAGGCAGCAAAAAAAGATATACACATAATTGTTTAGAGATATTTAACCAAAACTGAGGACTATTTTACTTAGAGTGAGAATCAAAAACTCCCTCTAATAAAATTATATGATACAGGTTATTAAGCCAAAGCAGTGGCTGAAAATCTGAGTTCAGGGTACAATAATGTTTTCCCCAGTATTAAGGAGCTCAAATAAATTATCCTCTTTAAAAACCTACCCTGTGATCACTTGAATTCATCAGCCATTTAGGACCAGACAGAGAAGAGGGTACTCACCTGAGGCTACACATGCTCCGTAACGCCAGCCCTCGCACCATTGGATTGGGGTCTGAGCAGTCTTTGCACAGCGTATTGATGGCCAGGAGAGCCAGATCTGGTTTCAGGGGAGCATATGTGCACATGTACAGATAAACCAACTTCTTCTGGACAATATCTACAGTGGCACTGGCCTTCACCATTTCCATAAAAACACCAGACATGTCCAAGCCTTGAGTCATGTACCTGAACAACGCACATGACAGAAGGAAGTAAAATGCAAAATCCCCAACTTACAATGGAGGGAGTTTTACTTACATATCTCCTGATTACCCAACTAGATTGTGATCTCTTAGAGGGTAGCAGCCAGGATTACCTTGTCTATTATATCACACAGTACTTCATACCATAGGCCTACAATAAACATTATTCTTCTATTCATTCAACAAACACTTATTATTATTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTAGAGTGCAGTGGCACAATCTCGGCTCATTATAAGCTCCGCTTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTGCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACCAGCGTGAGCCACCGCACCCAGCCTCAACAAACACTTATTGAATCCCTAGTACTTTGGTGAAATTCAACTTTTACATCCAGGGACATGCTCTTGGGACATAATCTTGAAGAAGGTGTGGTCTCAAACCTCTAGGAACTTCAAATCTATTAATGAGCCAGATGAGAATACCGTTAATTACAGTATGATAGATAAGTACTTAAACAGAAGTATTGTACAAGGTGTAGAGGGGATTCAGAGGTCTGACACTGGCAGGAAGTCAGAAAATGTTTCTTCACAGAGGAAGTAATACTTTAGCTGAATGAGCAGGAGCTCACTAGGCAGATGTAATAGCAAGGTAAAGATACATGCTATGAGGTAAGTAGACATGAGCAGGAGCAGCACACATTTTTTTAAGAGTCTGTAGGTAGTTGAATTAACAGCTTGTTCCTTGGGTGCTGTGATAAGTTTGGACTTTATTGTTTCTCAGACTGGTCTCCTACTGGAACCAACTGAAATGTTTATTAAAAATACAGATTCCTG	CACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAGAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATGTGAGGGAGTTAATAGTGGTTAACTGGCCGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGAAGTTTGGGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCGGTAAGCCGAGATAGCGCCATTGCACTCCAGCTTAGACAACAAGAGCAAAACTCCGTCTCAAATAATAATAATAATAATGGTTAACTTTCTTTTCTACCCCACATAAGTTGTTCAATACTTTAATACATCAACAAGATCCCACAAGGTAGCAGATCTCATAATAAAAAGAGTGCTGAGGCATCCAAACCGATTTAAGAGATGGTGAGCAATGGGCTTATTGATGACAACGCCTCCTTCCTGTTTCAGAATTTCCTCTAGAGACCTCAAGCAGTTCACAACTACAATTGGATCCTGGTCACGCAGCAAACTGTATAATTCATTTACCAGGGCACCATCTATAAAAAAGAACAAAGTTCTTAGATAAAGAAGGAAAGCTTCAGAGTAACAAGGATGTAGCCAGAGTAATAGCTCCAGGTAGACAAAGTTGAACTTCTCTGCTACAAAAATGACAAAGGCCACACTAAAGTGCAAGGCAAAAAAAAAACTGCCATGTCCAGACTGTTCTAAGCAGCTAATACAAAGGATCTCATTGGGGCCCCAGAGAAAGGACTTCTCATCTCCAGAAGATACCAAGCCCTGCATCCTACTTAAAGAGATATGTACAGAACTGGGGCCACATTATTATTTTCTACCAAAGCCACACAATCTTTTTTAAAGTTATACATAATGGAGGCACATTGACCATGATGGATTACACTGAACTTACCTACTTCAGAGTCTCCATGAAGATTATGCATCTTGGCACATCCAAGGACTGCCACTCTCCTATGAAGCCTTATCCCGCAGACCATTGAGAATAGGCTGTTGTATATACTCCTGCACACCAGGCATCCTAAGCAACACATCCTGGAGTTAGCCAGATTCTGAAATACTAATTTTGACATACCTCAGCCCCTGTTCACCTAACAGATGGTTTAGTAGATGCTGCACCCATCAGATCATGAAGAATTGCAGAAAGCCTCTATCAAGCTTAAAAAGCCATAATTTGACTTTTCTGTTTTTTTCTTGTTTTTTTCAAGATGGGGTCTCACTTTGTCACCCAGTGGCCCGATCATAGCTCACTGCTGCCTTGAATTCCCGGGCCCAAGCCATCCTCCTGCCTCAGCCTTCCTAGTAGCTGAGACTACAGGTGCGTGTCACCATGCCCATTTAATTTTTTGTAGATATAGGCTCTCACCATCTTGCCCAGCTGGTCTCAAATTCCTGGGCTCAAGCAATCTTCCTGTCTAAGCCTCCCAAAGTGCTGGGTCTACAGGCATGAGCCACTGTGCCCAGCCTAATTTGACTTTTCATTTGGAATAATGATGCACAGGCAGCAAAAAAAGATATACACATAATTGTTTAGAGATATTTAACCAAAACTGAGGACTATTTTACTTAGAGTGAGAATCAAAAACTCCCTCTAATAAAATTATATGATACAGGTTATTAAGCCAAAGCAGTGGCTGAAAATCTGAGTTCAGGGTACAATAATGTTTTCCCCAGTATTAAGGAGCTCAAATAAATTATCCTCTTTAAAAACCTACCCTGTGATCACTTGAATTCATCAGCCATTTAGGACCAGACAGAGAAGAGGGTACTCACCTGAGGCTACACATGCTCCGTAACGCCAGCCCTCGCACCATTGGATTGGGGTCTGAGCAGTCTTTGCACAGCGTATTGATGGCCAGGAGAGCCAGATCTGGTTTCAGGGGAGCATATGTGCACATGTACAGATAAACCAACTTCTTCTGGACAATATCTACAGTGGCACTGGCCTTCACCATTTCCATAAAAACACCAGACATGTCCAAGCCTTGAGTCATGTACCTGAACAACGCACATGACAGAAGGAAGTAAAATGCAAAATCCCCAACTTACAATGGAGGGAGTTTTACTTACATATCTCCTGATTACCCAACTAGATTGTGATCTCTTAGAGGGTAGCAGCCAGGATTACCTTGTCTATTATATCACACAGTACTTCATACCATAGGCCTACAATAAACATTATTCTTCTATTCATTCAACAAACACTTATTATTATTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTAGAGTGCAGTGGCACAATCTCGGCTCATTATAAGCTCCGCTTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTGCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACCAGCGTGAGCCACCGCACCCAGCCTCAACAAACACTTATTGAATCCCTAGTACTTTGGTGAAATTCAACTTTTACATCCAGGGACATGCTCTTGGGACATAATCTTGAAGAAGGTGTGGTCTCAAACCTCTAGGAACTTCAAATCTATTAATGAGCCAGATGAGAATACCGTTAATTACAGTATGATAGATAAGTACTTAAACAGAAGTATTGTACAAGGTGTAGAGGGGATTCAGAGGTCTGACACTGGCAGGAAGTCAGAAAATGTTTCTTCACAGAGGAAGTAATACTTTAGCTGAATGAGCAGGAGCTCACTAGGCAGATGTAATAGCAAGGTAAAGATACATGCTATGAGGTAAGTAGACATGAGCAGGAGCAGCACACATTTTTTTAAGAGTCTGTAGGTAGTTGAATTAACAGCTTGTTCCTTGGGTGCTGTGATAAGTTTGGACTTTATTGTTTCTCAGACTGGTCTCCTACTGGAACCAACTGAAATGTTTATTAAAAATACAGATTCCTGNNNNN	pathogenic	13,374
Clinical significance of chromosome 1, position 113904664, gene AP4B1: benign or pathogenic? Name the disease(s) if pathogenic.	pathogenic; ['Hereditary_spastic_paraplegia_47']	AGACAGAGAAGAGGGTACTCACCTGAGGCTACACATGCTCCGTAACGCCAGCCCTCGCACCATTGGATTGGGGTCTGAGCAGTCTTTGCACAGCGTATTGATGGCCAGGAGAGCCAGATCTGGTTTCAGGGGAGCATATGTGCACATGTACAGATAAACCAACTTCTTCTGGACAATATCTACAGTGGCACTGGCCTTCACCATTTCCATAAAAACACCAGACATGTCCAAGCCTTGAGTCATGTACCTGAACAACGCACATGACAGAAGGAAGTAAAATGCAAAATCCCCAACTTACAATGGAGGGAGTTTTACTTACATATCTCCTGATTACCCAACTAGATTGTGATCTCTTAGAGGGTAGCAGCCAGGATTACCTTGTCTATTATATCACACAGTACTTCATACCATAGGCCTACAATAAACATTATTCTTCTATTCATTCAACAAACACTTATTATTATTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTAGAGTGCAGTGGCACAATCTCGGCTCATTATAAGCTCCGCTTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTGCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACCAGCGTGAGCCACCGCACCCAGCCTCAACAAACACTTATTGAATCCCTAGTACTTTGGTGAAATTCAACTTTTACATCCAGGGACATGCTCTTGGGACATAATCTTGAAGAAGGTGTGGTCTCAAACCTCTAGGAACTTCAAATCTATTAATGAGCCAGATGAGAATACCGTTAATTACAGTATGATAGATAAGTACTTAAACAGAAGTATTGTACAAGGTGTAGAGGGGATTCAGAGGTCTGACACTGGCAGGAAGTCAGAAAATGTTTCTTCACAGAGGAAGTAATACTTTAGCTGAATGAGCAGGAGCTCACTAGGCAGATGTAATAGCAAGGTAAAGATACATGCTATGAGGTAAGTAGACATGAGCAGGAGCAGCACACATTTTTTTAAGAGTCTGTAGGTAGTTGAATTAACAGCTTGTTCCTTGGGTGCTGTGATAAGTTTGGACTTTATTGTTTCTCAGACTGGTCTCCTACTGGAACCAACTGAAATGTTTATTAAAAATACAGATTCCTGGGTTCCCTCCCACCCTACTGAAATCAGAATCAGTCCCTGGACTGGATGACAAAAAGCACCCCAAGGGATTTTTATGCATAGTAAAGTTTGTGAACCATAGCTGTAGGCAAGAGTTATGTGTTCAGGTATGTATAATGGAAAAATTCTGTCTCAAATGAGGCAAAGTGGCCTACTAGTAAGCTGCTGCAATTGCTTTATTGATGAAGGCCTGGACCAGAACAACAATGCTAATAAACAAGAGAGGATGGATATTTAGAATTATGAATTCAAACCATCTGACATAAGAAGTGAGAGATCAGGTGTCCTCAAGGTTGGCTCCCACGCATAGTCGGCTGCTGGTGGCATTCATCAACACAAATGTAAGCTGAACAGGTTTGAGGAAGACGGAAGAATGTCCGGGCTATTTCGGACATACTTTTGATAAACCACGCACGTGGAAATGCCAAGCAGGCAGTGGGATACGTGGGTCTGAAGCTAAAAAAGGAAGTCTGTACTAGCTATATTATAGATCCAAGAGTCACCAGTAATTGCTCAAGCCCGTGATATGGAGGAAACTACCCAGCTGAGTAAAAGATGCTGCAGAGGGGAGACTGACATGGTACTCCAAAGCAGCAGGACGAAGACCGAACCATATAACTGCCACGTGTGAAAGCTAATTCACCCTTTCAGAGAGACTGGGGCTAGTGAGCCCTGATGGGGATTGCAAAGGGAGCAGTTAGCACGCGAAGGGAGGTAGGTGATACCTAATCACTCGCTGGATGACATTCCGGTAGCGCAGCCTATCAGCTTGAATGTGAGGATTGCACAGAGCCTTCTTCAGCTCCTTCACCACGTCCTCGGAGCCAAGGTACGGCATCTTCCTAAGAGTCACAGGGCAGCTCCCACAGCTCCCACGGTAACTCGAGGGCTCCTTCTCGTCCTGATGTGGGAGCCTGAGTAAAGGAAATATGAGTCAGTGAAAATACAAAAGGCGAGATCTCGCCTCAGGCTCGGCTTCCGTAGGGCCGGCACGCTGGCCCTGACACACTTCCACGCCCTCCGCGACACCGCGAGCCCCACCCTAGGCTCTTCAGGCCCTACCGTCGGCCGGCAGGCCGTTCGCCCCGCCCACAGATCGCTCCCGCTACTTCTAGGTCCTCCGCCGGATTTCCAGCGCCGCGTCCGACTGACCGCAGACCCCTCCCTCTCCAGTTCCAGCCTTAATTCCCCCTCCACGCCGTTCTCATCGCGGATAGGCCCAATCTTGCTTTCTGCGGAAGTCCCGCCCCCTTGTCAAGAGACCAAACAGAAGACCGCTGCCGGTCTCCCCGCGAGCGAGCGCTAAGCGTAGTCCCGACTCCGACCTTAGGATGCCCTTCCCCCAACCTCTCACTCTCCAGGCGCAGCTGCGCGGCTCCCTCTGGTGGAGCTGCGGCGGGCAATCGGAAATCGGCTACTTTGGCCTGTCTCCTCCCTGCAGCGCGCGCTTTGAGTGCCCGGCTCGGCCTCCGCTCCCGCGCGGTTGGGAGTGTCCAGCGCCCTCCGCGATTTGGGCTCCAGCGGGCAGGGTGACTTCCTTTTTCTGCCCACTCTGGTAACTTATTGCTCTGCTGGGCTCTTTCCCTTAGGGTCTCTGGCCCTGTTCTTGCCCCAGCATGACTTTTATCGGGACGCCGTTGTGGAAGCCTCACGCAGGAGCCCTGCCCCCGTGGAGAAGATCCCACTGGTGACTCCAACCCTACCACCATGAATGGGGTCCTGATCCCCCATACGCCCATCGCAGTGGACTTCTGGAGCCTGCGCCGGGCTGGCACCGCACGTCTCTTCTTCTTGTCTCACATGCACTCGGACCACACCGTGGGCCTGTCTAGCACCTGGGCCCGGCCCCTCTACTGCTCCCCAATTACAGCCCACCTCTTGCATCGTCACCTACAGGTATGGGGCTGGAGTCGGTCTCCGAGAGCTGGTCCAGGCATCTGGGTTGGGACTTCAACCTGTCATTCTTGGAGTCATAGAATGGGGGCCACGAAAACTGATTTGGAAGTTGTTTGAACCCAAAAATGCATCTTTAACCCAGAATAGGAACGTGTTTTCGAAGTGACCAACTTGAGATAGTTAGCCATAAGTTGAGGAGATATTTTAATCCAGCCAAGGAAACTATTCCTACCTTTATAAGTAAGCTAGGCCGATGTTTCCCAAACTTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCGGCCTCCTGAGTAGCTGAGATTACAGGCGCACGCCACCACGCCCAGCTAATTTTTTGTATTTTTTGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCTAACTCCTGACCTTAAGTGATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACCACGCCCCGCCTAAACTTGCCTCATCTTAAGAATCCACCTAATGTGCTGGGTGGTTCTCCAGCTCTCTCCCCACCCCACCCTTAAGTCTCCAAGAGATTAAGATCAGGAGTAAGTTTGGGAATTGCTGACTAGACTGTTTGCTGAACTCTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAAACTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT	AGACAGAGAAGAGGGTACTCACCTGAGGCTACACATGCTCCGTAACGCCAGCCCTCGCACCATTGGATTGGGGTCTGAGCAGTCTTTGCACAGCGTATTGATGGCCAGGAGAGCCAGATCTGGTTTCAGGGGAGCATATGTGCACATGTACAGATAAACCAACTTCTTCTGGACAATATCTACAGTGGCACTGGCCTTCACCATTTCCATAAAAACACCAGACATGTCCAAGCCTTGAGTCATGTACCTGAACAACGCACATGACAGAAGGAAGTAAAATGCAAAATCCCCAACTTACAATGGAGGGAGTTTTACTTACATATCTCCTGATTACCCAACTAGATTGTGATCTCTTAGAGGGTAGCAGCCAGGATTACCTTGTCTATTATATCACACAGTACTTCATACCATAGGCCTACAATAAACATTATTCTTCTATTCATTCAACAAACACTTATTATTATTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTAGAGTGCAGTGGCACAATCTCGGCTCATTATAAGCTCCGCTTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTGCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACCAGCGTGAGCCACCGCACCCAGCCTCAACAAACACTTATTGAATCCCTAGTACTTTGGTGAAATTCAACTTTTACATCCAGGGACATGCTCTTGGGACATAATCTTGAAGAAGGTGTGGTCTCAAACCTCTAGGAACTTCAAATCTATTAATGAGCCAGATGAGAATACCGTTAATTACAGTATGATAGATAAGTACTTAAACAGAAGTATTGTACAAGGTGTAGAGGGGATTCAGAGGTCTGACACTGGCAGGAAGTCAGAAAATGTTTCTTCACAGAGGAAGTAATACTTTAGCTGAATGAGCAGGAGCTCACTAGGCAGATGTAATAGCAAGGTAAAGATACATGCTATGAGGTAAGTAGACATGAGCAGGAGCAGCACACATTTTTTTAAGAGTCTGTAGGTAGTTGAATTAACAGCTTGTTCCTTGGGTGCTGTGATAAGTTTGGACTTTATTGTTTCTCAGACTGGTCTCCTACTGGAACCAACTGAAATGTTTATTAAAAATACAGATTCCTGGGTTCCCTCCCACCCTACTGAAATCAGAATCAGTCCCTGGACTGGATGACAAAAAGCACCCCAAGGGATTTTTATGCATAGTAAAGTTTGTGAACCATAGCTGTAGGCAAGAGTTATGTGTTCAGGTATGTATAATGGAAAAATTCTGTCTCAAATGAGGCAAAGTGGCCTACTAGTAAGCTGCTGCAATTGCTTTATTGATGAAGGCCTGGACCAGAACAACAATGCTAATAAACAAGAGAGGATGGATATTTAGAATTATGAATTCAAACCATCTGACATAAGAAGTGAGAGATCAGGTGTCCTCAAGGTTGGCTCCCACGCATAGTCGGCTGCTGGTGGCATTCATCAACACAAATGTAAGCTGAACAGGTTTGAGGAAGACGGAAGAATGTCCGGGCTATTTCGGACATACTTTTGATAAACCACGCACGTGGAAATGCCAAGCAGGCAGTGGGATACGTGGGTCTGAAGCTAAAAAAGGAAGTCTGTACTAGCTATATTATAGATCCAAGAGTCACCAGTAATTGCTCAAGCCCGTGATATGGAGGAAACTACCCAGCTGAGTAAAAGATGCTGCAGAGGGGAGACTGACATGGTACTCCAAAGCAGCAGGACGAAGACCGAACCATATAACTGCCACGTGTGAAAGCTAATTCACCCTTTCAGAGAGACTGGGGCTAGTGAGCCCTGATGGGGATTGCAAAGGGAGCAGTTAGCACGCGAAGGGAGGTAGGTGATACCTAATCACTCGCTGGATGACATTCCGGTAGCGCAGCCTATCAGCTTGAATGTGAGGATTGCAGAGCCTTCTTCAGCTCCTTCACCACGTCCTCGGAGCCAAGGTACGGCATCTTCCTAAGAGTCACAGGGCAGCTCCCACAGCTCCCACGGTAACTCGAGGGCTCCTTCTCGTCCTGATGTGGGAGCCTGAGTAAAGGAAATATGAGTCAGTGAAAATACAAAAGGCGAGATCTCGCCTCAGGCTCGGCTTCCGTAGGGCCGGCACGCTGGCCCTGACACACTTCCACGCCCTCCGCGACACCGCGAGCCCCACCCTAGGCTCTTCAGGCCCTACCGTCGGCCGGCAGGCCGTTCGCCCCGCCCACAGATCGCTCCCGCTACTTCTAGGTCCTCCGCCGGATTTCCAGCGCCGCGTCCGACTGACCGCAGACCCCTCCCTCTCCAGTTCCAGCCTTAATTCCCCCTCCACGCCGTTCTCATCGCGGATAGGCCCAATCTTGCTTTCTGCGGAAGTCCCGCCCCCTTGTCAAGAGACCAAACAGAAGACCGCTGCCGGTCTCCCCGCGAGCGAGCGCTAAGCGTAGTCCCGACTCCGACCTTAGGATGCCCTTCCCCCAACCTCTCACTCTCCAGGCGCAGCTGCGCGGCTCCCTCTGGTGGAGCTGCGGCGGGCAATCGGAAATCGGCTACTTTGGCCTGTCTCCTCCCTGCAGCGCGCGCTTTGAGTGCCCGGCTCGGCCTCCGCTCCCGCGCGGTTGGGAGTGTCCAGCGCCCTCCGCGATTTGGGCTCCAGCGGGCAGGGTGACTTCCTTTTTCTGCCCACTCTGGTAACTTATTGCTCTGCTGGGCTCTTTCCCTTAGGGTCTCTGGCCCTGTTCTTGCCCCAGCATGACTTTTATCGGGACGCCGTTGTGGAAGCCTCACGCAGGAGCCCTGCCCCCGTGGAGAAGATCCCACTGGTGACTCCAACCCTACCACCATGAATGGGGTCCTGATCCCCCATACGCCCATCGCAGTGGACTTCTGGAGCCTGCGCCGGGCTGGCACCGCACGTCTCTTCTTCTTGTCTCACATGCACTCGGACCACACCGTGGGCCTGTCTAGCACCTGGGCCCGGCCCCTCTACTGCTCCCCAATTACAGCCCACCTCTTGCATCGTCACCTACAGGTATGGGGCTGGAGTCGGTCTCCGAGAGCTGGTCCAGGCATCTGGGTTGGGACTTCAACCTGTCATTCTTGGAGTCATAGAATGGGGGCCACGAAAACTGATTTGGAAGTTGTTTGAACCCAAAAATGCATCTTTAACCCAGAATAGGAACGTGTTTTCGAAGTGACCAACTTGAGATAGTTAGCCATAAGTTGAGGAGATATTTTAATCCAGCCAAGGAAACTATTCCTACCTTTATAAGTAAGCTAGGCCGATGTTTCCCAAACTTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCGGCCTCCTGAGTAGCTGAGATTACAGGCGCACGCCACCACGCCCAGCTAATTTTTTGTATTTTTTGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCTAACTCCTGACCTTAAGTGATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACCACGCCCCGCCTAAACTTGCCTCATCTTAAGAATCCACCTAATGTGCTGGGTGGTTCTCCAGCTCTCTCCCCACCCCACCCTTAAGTCTCCAAGAGATTAAGATCAGGAGTAAGTTTGGGAATTGCTGACTAGACTGTTTGCTGAACTCTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAAACTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTNN	pathogenic	13,385
A genetic alteration at chromosome 1, position 114708672, in gene NRAS (NRAS proto-oncogene, GTPase)—benign or pathogenic? If pathogenic, which disease(s) is involved?	benign	AAAATGTTTAAATACGTGATACTGAGTTTTCCAGTCATGGTAAAGGGTTTGTGCTAACTGACCTCTTCTTTCCTTGCAGGGCTAACTGCAGCTACCTAGCAAAATTACTAGCTGGAGTTACTGGTGCAATGAGCAAATGCAGAAGAATTTCTTTCTCTGTGATGCTAACTGGATTGTTCAAGTTTTGAAACTGTGACCCTGGTCCATTAGCACCATGCTTTACTCAACTGAAATAATCAAGCCCCTATTGCTGTGGGGGAAGCTGTAGAGGGTGGGGTGAGAAGGGGATTGAAGGCAATTATATACATCATTAAGATACCATGATATACAGTGAAAATGTAATTTGTTAATATACTATATTTGAGGTTTGAAAATCACTGATCACAGCTATTAAATAACAATGCACCAAAGTTTTACAATATTTGAACATCTGCAAATGTAGAGCTTTCTGGTATGACACAAATTTGAATACAAATGGAAGTTCATTGAATATTAGGTTTATCAGTAAGCTAGGGGAAACAAATTACATACATTGTATAGGTAGTAACCTATGAAAAAAGTGGAGATTAGGTAAAAATTATTAAGTGAAATTATTCATGTGCTTTCAGTTTCATCTTTCTCCTGGGAAAGCCCCAAAACAGGCCTCTGGAAAACCAATTTCATACATGTACAAAATGGCATCTGCTCTCAAATAGATATAGCTTTCCTTCAATGGTAGATAAGTCACAGACGTATCTCAGACATTCATTTCATGCATAAGGATTTTTGAGACATCTATTCCACTGAAATATTATAAAGGAAGTCTACAAACCACTTCTAGGAAAAAGGCACTTCACTGTGAAAGTTGGATTTAATTACGTCAAAGTTGTGAAGACTAGGATAGACTCAAAATTCAGTATTCATTTTTGTATTTATGAATCTAGAGCAGATGCCAGTTTAGAGAATAGAGCCGATAACATTATAAACAAACCAAACAGCAATAATAACTATATTCTTGGCAAAACAGTAATTTATGACATTTCTCCAAAAATTAGCATAGTTCTAAGTTCAACAGTAAAAAGAAAAAAAAAATCACCAGCAGTTGCTACTTTAGAGCTCAAGACACTGTTTTCAATAGAATTTCACGTTTGCGGTTTGGTTCTCTGTTTCAGACATGAACTGCTTTTCAGATGAAAAACCTGGGGTGGCAGAGGTGTGTTTGTGCTGTGGAAGAACCCAGGGCAGAAAAATAACAGGGAGTAACAAGAGGTGCATTCTCTGGTCAGACAGCCAAGTGAGGAGGTAGTTATTCTGAGAACTTCTCAAATAGAGATTATTGTACTAAACTACTGAGAGCTGGGGAAGTAGCAGGAGCTTCTCTGTGAGACTGAAGACAGCAACAGGAATACTTCTCCTCCAGGGAAGTCAGGACCAGGGTGTCAGTGCAGCTGAAATAGAAACAGAATTTGTATAAGTGACACATTCAGAGTATAAGAAAAACAAATATACAAAATTAACAGGAATGAGAATACATTTCCAAACTTGTCCTACCTTGAAAGTGGCTCTTTTCTGACAAAACTTTAAAAGTATCTGTAAAAAAAGAACAGAAACCATGTCCTTATTAACTAGTTTCAAAGTAGTGATCCTTCAAATTCCTGGTCATTGCCAGGAATAGGGTATGCCTACATTTCATAAATAATGTCTTATAATTTCTAATGTTACCAAAAATATAAAGATACCTGTGGAATAATCAAATGTTTTAAACACTTTAGACCTCAGTACTTTCAGAAAGGGTGTCATATGGAAAATGTGCAGAAGAGGATAGGCAGAAACTCAAAAAACATATAGACAATAACACCAGCACTCCTCCAAATTGCCCAATACTATATACTAAGATTTGTAATTATGCCAAGAAACCATATGCTCACCTTGTTACATCACCACACATGGCAATCCCATACAACCCTGAGTCCCATCATCACTGCTGTTGAGTTTTTTCATTCGGTACTGGCGTATTTCTCTTACCAGTGTGTAAAAAGCATCTTCAACACCCTATAAAAGGAAAAAATGAAAAAAAATGAGAGAGCTAGCTCAACGGACACAATCCAAATTATAAGCTCTCTTGCATTTGTATCTCTTTATGTGGACATAAGATTCCAATTACTAAACGAATAGCTGATAAAATAAAATATGGTGATTTAAGGAAGAGAACACTAAATTTCACATTCCTATTGAATCACAAGAACAGGCTGATATAAAAATGGCACATTTTGCCAAATAAACATTCATGCAAAGGAAAAGGGTAATGTGAGAAACACGGAACAAAACTACATTAAACTAAAGACTCCATTCAGGAGGCTTAAGCCATAAACGGGCTGGTGTTGACAGAGAAATAACTAATGTTTATAAATATTTTTAGTCAAGGATCTTCCCAAGAAATATTTGTGGATGTTAATGCAGGAGTAAACATGCCATAACAGAATATTAGTAAGTTCATTTTGGGTTTAAACAAGCGTTAAGAAAAAGAACACTACTAAAAATGCCTAACAACAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCCAGGTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTAAAACCCTGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGATGATGTGCCCGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGACAGAGGCTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCTTAGAAGATAGAGTGAGACTCTGCCTAAAAAAAAATAAAAAATAAAAAAATAAAAATGAAAAAAATGCATAACAACAAAGAATATGAATATGGATCACATCTCTACCAGAGTTAATCAACTGATGCAAACTCTTGCACAAATGCTGAAAGCTGTACCATACCTGTCTGGTCTTGGCTGAGGTTTCAATGAATGGAATCCCGTAACTCTTGGCCAGTTCGTGGGCTTGTTTTGTATCAACTGTCCTTGTTGGCAAATCACACTTGTTTCCCACTAGCACCATAGGTACATCATCCGAGTCTTTTACTCGCTTAATCTGCTCCCTAAAAACGGGAATATATTATCAGAACATAAGAAAAACAAGATTAGGCTGGGTACAGTGGCTCATGCCTGCAATCTCAGCACTTTGGGAGGCTGAGGAGGGCAGACTGCTTGAACCCAGGAGTTTGAGATTAGCCTGGGCAACATGGCAAAACCCGGTCTCTACAAAAAAATACAAAGATTAGGCTGGGTGCAGTGGCTCATGCCTGTATTCCCAGCACTTTGGGAGGTTGAGGTGGGCAGATCACAAGGTCAGGAGTTGAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGAAGATTGCAGTGAGCCAAGATCACGCCACTACACTCTAGCCTGGGCGACAGAGTGAGACTCCATCCCCCCCAACCCCCCCCAAAAAATATATATAAAATATATAAAAATAAATATATATTATATATATTATATATAAATATATATTTATATATAATTTATAATATATAAATATATATAATTTACACATATAAATATATATTTATATATATTTATAAATAAAAAATATATATACAATATATATTATAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTAATTGGGAGACTGAGGTGGGAGGATCACCTGGGTCCAGAAAGGTCAAGGCTGCAGTGAGCCATAATTGTTCCACTGCACTCCAGCCTGGGCAACAGGAAAAAAGAAAGAAAAGAAAGGGAAGAAAGAAAAGAAAAGAGAAAAGAAAAAGAGAAAGAAAGTGAGAGCGAGAGAAAGAGAGAGCGAGAGAGAGACAAGATTTCAGGAAGGAATAAATGGCTAGGGCAAAAAAGAAACTAGCAAATTTTATGTAGCCCTATTAACTTGTAGTATTTTTGCTTTTTTCTACCACTTAGAGAAGACATTGTATACTAAGG	AAAATGTTTAAATACGTGATACTGAGTTTTCCAGTCATGGTAAAGGGTTTGTGCTAACTGACCTCTTCTTTCCTTGCAGGGCTAACTGCAGCTACCTAGCAAAATTACTAGCTGGAGTTACTGGTGCAATGAGCAAATGCAGAAGAATTTCTTTCTCTGTGATGCTAACTGGATTGTTCAAGTTTTGAAACTGTGACCCTGGTCCATTAGCACCATGCTTTACTCAACTGAAATAATCAAGCCCCTATTGCTGTGGGGGAAGCTGTAGAGGGTGGGGTGAGAAGGGGATTGAAGGCAATTATATACATCATTAAGATACCATGATATACAGTGAAAATGTAATTTGTTAATATACTATATTTGAGGTTTGAAAATCACTGATCACAGCTATTAAATAACAATGCACCAAAGTTTTACAATATTTGAACATCTGCAAATGTAGAGCTTTCTGGTATGACACAAATTTGAATACAAATGGAAGTTCATTGAATATTAGGTTTATCAGTAAGCTAGGGGAAACAAATTACATACATTGTATAGGTAGTAACCTATGAAAAAAGTGGAGATTAGGTAAAAATTATTAAGTGAAATTATTCATGTGCTTTCAGTTTCATCTTTCTCCTGGGAAAGCCCCAAAACAGGCCTCTGGAAAACCAATTTCATACATGTACAAAATGGCATCTGCTCTCAAATAGATATAGCTTTCCTTCAATGGTAGATAAGTCACAGACGTATCTCAGACATTCATTTCATGCATAAGGATTTTTGAGACATCTATTCCACTGAAATATTATAAAGGAAGTCTACAAACCACTTCTAGGAAAAAGGCACTTCACTGTGAAAGTTGGATTTAATTACGTCAAAGTTGTGAAGACTAGGATAGACTCAAAATTCAGTATTCATTTTTGTATTTATGAATCTAGAGCAGATGCCAGTTTAGAGAATAGAGCCGATAACATTATAAACAAACCAAACAGCAATAATAACTATATTCTTGGCAAAACAGTAATTTATGACATTTCTCCAAAAATTAGCATAGTTCTAAGTTCAACAGTAAAAAGAAAAAAAAAATCACCAGCAGTTGCTACTTTAGAGCTCAAGACACTGTTTTCAATAGAATTTCACGTTTGCGGTTTGGTTCTCTGTTTCAGACATGAACTGCTTTTCAGATGAAAAACCTGGGGTGGCAGAGGTGTGTTTGTGCTGTGGAAGAACCCAGGGCAGAAAAATAACAGGGAGTAACAAGAGGTGCATTCTCTGGTCAGACAGCCAAGTGAGGAGGTAGTTATTCTGAGAACTTCTCAAATAGAGATTATTGTACTAAACTACTGAGAGCTGGGGAAGTAGCAGGAGCTTCTCTGTGAGACTGAAGACAGCAACAGGAATACTTCTCCTCCAGGGAAGTCAGGACCAGGGTGTCAGTGCAGCTGAAATAGAAACAGAATTTGTATAAGTGACACATTCAGAGTATAAGAAAAACAAATATACAAAATTAACAGGAATGAGAATACATTTCCAAACTTGTCCTACCTTGAAAGTGGCTCTTTTCTGACAAAACTTTAAAAGTATCTGTAAAAAAAGAACAGAAACCATGTCCTTATTAACTAGTTTCAAAGTAGTGATCCTTCAAATTCCTGGTCATTGCCAGGAATAGGGTATGCCTACATTTCATAAATAATGTCTTATAATTTCTAATGTTACCAAAAATATAAAGATACCTGTGGAATAATCAAATGTTTTAAACACTTTAGACCTCAGTACTTTCAGAAAGGGTGTCATATGGAAAATGTGCAGAAGAGGATAGGCAGAAACTCAAAAAACATATAGACAATAACACCAGCACTCCTCCAAATTGCCCAATACTATATACTAAGATTTGTAATTATGCCAAGAAACCATATGCTCACCTTGTTACATCACCACACATGGCAATCCCATACAACCCTGAGTCCCATCATCACTGCTGTTGAGTTTTTTCATTCGGTACTGGCGTATTTCTCTTACCAGTGTGTAAAAAGCATCTTCAACACCCTATAAAAGGAAAAAATGAAAAATGAGAGAGCTAGCTCAACGGACACAATCCAAATTATAAGCTCTCTTGCATTTGTATCTCTTTATGTGGACATAAGATTCCAATTACTAAACGAATAGCTGATAAAATAAAATATGGTGATTTAAGGAAGAGAACACTAAATTTCACATTCCTATTGAATCACAAGAACAGGCTGATATAAAAATGGCACATTTTGCCAAATAAACATTCATGCAAAGGAAAAGGGTAATGTGAGAAACACGGAACAAAACTACATTAAACTAAAGACTCCATTCAGGAGGCTTAAGCCATAAACGGGCTGGTGTTGACAGAGAAATAACTAATGTTTATAAATATTTTTAGTCAAGGATCTTCCCAAGAAATATTTGTGGATGTTAATGCAGGAGTAAACATGCCATAACAGAATATTAGTAAGTTCATTTTGGGTTTAAACAAGCGTTAAGAAAAAGAACACTACTAAAAATGCCTAACAACAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCCAGGTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTAAAACCCTGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGATGATGTGCCCGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGACAGAGGCTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCTTAGAAGATAGAGTGAGACTCTGCCTAAAAAAAAATAAAAAATAAAAAAATAAAAATGAAAAAAATGCATAACAACAAAGAATATGAATATGGATCACATCTCTACCAGAGTTAATCAACTGATGCAAACTCTTGCACAAATGCTGAAAGCTGTACCATACCTGTCTGGTCTTGGCTGAGGTTTCAATGAATGGAATCCCGTAACTCTTGGCCAGTTCGTGGGCTTGTTTTGTATCAACTGTCCTTGTTGGCAAATCACACTTGTTTCCCACTAGCACCATAGGTACATCATCCGAGTCTTTTACTCGCTTAATCTGCTCCCTAAAAACGGGAATATATTATCAGAACATAAGAAAAACAAGATTAGGCTGGGTACAGTGGCTCATGCCTGCAATCTCAGCACTTTGGGAGGCTGAGGAGGGCAGACTGCTTGAACCCAGGAGTTTGAGATTAGCCTGGGCAACATGGCAAAACCCGGTCTCTACAAAAAAATACAAAGATTAGGCTGGGTGCAGTGGCTCATGCCTGTATTCCCAGCACTTTGGGAGGTTGAGGTGGGCAGATCACAAGGTCAGGAGTTGAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGAAGATTGCAGTGAGCCAAGATCACGCCACTACACTCTAGCCTGGGCGACAGAGTGAGACTCCATCCCCCCCAACCCCCCCCAAAAAATATATATAAAATATATAAAAATAAATATATATTATATATATTATATATAAATATATATTTATATATAATTTATAATATATAAATATATATAATTTACACATATAAATATATATTTATATATATTTATAAATAAAAAATATATATACAATATATATTATAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTAATTGGGAGACTGAGGTGGGAGGATCACCTGGGTCCAGAAAGGTCAAGGCTGCAGTGAGCCATAATTGTTCCACTGCACTCCAGCCTGGGCAACAGGAAAAAAGAAAGAAAAGAAAGGGAAGAAAGAAAAGAAAAGAGAAAAGAAAAAGAGAAAGAAAGTGAGAGCGAGAGAAAGAGAGAGCGAGAGAGAGACAAGATTTCAGGAAGGAATAAATGGCTAGGGCAAAAAAGAAACTAGCAAATTTTATGTAGCCCTATTAACTTGTAGTATTTTTGCTTTTTTCTACCACTTAGAGAAGACATTGTATACTAAGGNNN	benign	13,426
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 114713997, gene NRAS (NRAS proto-oncogene, GTPase). What disease(s) is it linked to if pathogenic?	benign	CTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTTCTAGTCCGAGCAACTTAACGGCTTTCAGCATACAGATACTGAATCTTTCAGCTGGCTACTTTCCTTTTCACAACAGTGACCAAATTTGTAGTCCACCTTTAGAAAGCCACTGGAACTTCATGCACAATCACAGAATATGCTCACTCCTAAATTTGTTTATTTTACCCTTATTTTTTTGGTCTCACTTAAGCCTATTTTTCATTAATCTTATCTTGCTCTACTATATGCATTTTCATAAGATGTTTTAAATACTCTTTGGTTTGAGCTAAGGCATATAGAAAAATGAATAAATTTCTTGTAAGAAAGAAGAAAAATGACTTCTAGAAATTCAAAAAACATTTATTAGATGCATGCCAAGTGTGGGCATTTTATTAAGTACTGCTATTACTTTTAGACAAAAAAAAAATGGGAAGTACAACAGGTTAGGAAAAGAACACTTGAATTCAGTGTTGGACCAATCTGCTTTTGAGAGCAGACATCTTCACATGGATAGAAAATAAGCCAAGACTCAAGCCTTTAGGCAGAACACTTAAGTAGCATTTACTGTGTGCCAGGCACTATTCTGAGTGATTTGCGTATTTATTAAAACTGTAATCTTCACAACTCTATGAGGTAGGTATTATTATTTCCATATTATAGGTTAGGAAAGCCACATAGCCCCTGAGTCACGTCGCTAATAAACAGAGCTAGGTTTCAATCCAGGCAGAGTTCTCATTCTTAACCATTATATTATTCTGTTTAAGAACACTGTGCTAAGAAAAAGGAGCTTTGGGTTTTTGGTCCTGGCTCTGCTACTAATAACAATCCTGACTCCAAAACCTAACAAACGACATTCTGAACTCTGTTTCTGATTCTGCAAAATAAGAATATTGTACTAGAATTTTTATGGTCCAATCTAGCTTTGAAACTTTATGGTTCTATGGACAAAGTCTATCTTTATGTTCCCTTGCTTTGTTTTCATCTTTATGGACTTCCTATTTGCTTACTCCTATCATTTTATTTTTTATTTTTTTTGGAGACAGAATCTTGCTCTGTTGATTAGGCTGGAGTGCAGCAGTGCAGTGGAGTGAGCATGCCTCGACCTCCTGAGCTCACGTGATCCTCCCACCTCTGCCTCCCGAGTAGCTGCCACCATGTGTGACTAATTTTTTTATTTTTATTTTTGTAGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGTCTCCAACTCCTGGGCTGAAAGTGATCCTCCCGCCTTGGCCTCCCAAAGCACTGACATTCCAGGTGTGAGCCACTGTGCCTGGCCTATCTTTTCCATTACATACTGAAAGATGTTTCTTGGAGATGTTTTCCTCTCTGAAATTCCTTCGTGATCTCTAATTACAACAACTCTGGTTCCAAGTCATTCCCAGTAGCAAGCTTCACTTATGTATTATCAAACTTTATAGTAACAGTATATTATGTAAAATAAATTCCAGTATTAACTTTCAGTAATTACCCTAGATTCTCAATGTCAAACAACCTAAAACCAACTCTTCCCATAATTAAAAAGCTCTATCTTCCCTAGTGTGGTAACCTCATTTCCCCATAAAGATTCAGAACACAAAGATCATCCTTTCAGAGAAAATAATGCTCCTAGTACCTGTAGAGGTTAATATCCGCAAATGACTTGCTATTATTGATGGCAAATACACAGAGGAAGCCTTCGCCTGTCCTCATGTATTGGTCTCTCATGGCACTGTACTCTTCTTGTCCAGCTGTATCCAGTATGTCCAACAAACAGGTTTCACCATCTATAACCACTTGTTTTCTGTAAGAATCCTGGGGGTGTGGAGGGTAAGGGGGCAGGGAGGGAGGGAAGTTCAATTTTTATTAAAAACCACAGGGAATGCAATGCTATTGCCAAGGTTAAATAAGCATCTAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTAAAGAAATCTAAACATACCTCCACCAATTATAACCTGGCCCTATATACATCATTTGTGTTTATGACTAAATATACAAATACCTTTGTTTCAGAGAAGGTTTTTTTTTTATCATGACAGATGTACCTTTGGGAAATATTCCTGAATCAAATTCTTAAAGGTTCCAAACAAGGTATAGTTATGTTTAATTTCTCAGGAAGACAAACATGCATAGATCATATAAAAAATACTTTCATTTTGGTTTTATGGCAACAGGACTTTTACTTGTATTTTAATGTCATCACACTTGGAGAACTCTCTGGAGTACTGGAAGTGCTCTATACTGTTATCTGGGTGGTAGCTACATGACTATATAGAAACGCAAAAAGCACTGGGCTGTAGACATAAAATTTATGTATTTTACTTATGTAAATTGCTCAATAAATCAAACATTTAAAAATATTTAATTAAAATATTAAACATTTCATGTAAAATATTAAAGCTGTTAAGCTCAAAATAAAGATTTTGCCAAGGGTTAGCAACCAATTTTTTATAGTGGCTACATTAGAGTTAGTTTTCATCAATTAAACACGAGTAGCCAGATGGTAGGGAGGCCAGGTGTTGATTAAAATAATCTCTAAAGTTAGGCATTTCTAAACTGAACAAAATTACAAAACCCTTTATTTATTTATCTATTTATTTATTTTTTGAGACGAAGTCTCGCTCTGTTGCCCAGGCTGGAGGTCTGTGGTGTGATCTCGGCTCACTGCACCCTCTGCCTCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGCAAAACCCTTTATTTAAAGAGCCTTAGGTGCCACTTACTGAAGACAATCTGTACCATGAACTCTCATAATAACAATAGAATCCCTAAGTACTATTACATAGTGCTTTACCATTCATAAATAACTTAAATATATTATTTAACTTTCCATAACATCCCTGTGTGGTAGGCAGGACAAGTTTATGGTAATTTAAAACATGAGGAAAATGAGGTTGGGAGAGATTCAGTTGCTCAATATCACACAACTAAATAAACTGCAAACAGGGACCAAAATCCTAGGCATAAAGACTAAAAATCTCAAGTTCTTGCTACTCCAATCATCTGGTCTCAGCTGCTTCAACTAGCTAATAAATAAATATTGAAGAACACTCATCTCTGAATCCTTTATCTCCATCCTATTATCTCCCATACAATCAGACAGTCTCGCTACTATGGCCTGTGTTTCTCATGTAATAGAGCTGTTATATATGAAGAAACTCATGAATGAACTCAACACTGAGTTTGCAATAGTTTACAGAACTGTTAAAAACTGGACAGGTTTTAGAAACTTCAGCAGCTAATAAAAATGAACTGTTCTCTATAAACACGTTAAGCTTATTGCATAACTGAATGTATACCCAAAATAACTTTTTACTTTCTCTCCTCTTATTCCTTTAATACAGAATATGGGTAAAGATGATCCGACAAGTGAGAGACAGGATCAGGTCAGCGGGCTACCACTGGGC	CTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTTCTAGTCCGAGCAACTTAACGGCTTTCAGCATACAGATACTGAATCTTTCAGCTGGCTACTTTCCTTTTCACAACAGTGACCAAATTTGTAGTCCACCTTTAGAAAGCCACTGGAACTTCATGCACAATCACAGAATATGCTCACTCCTAAATTTGTTTATTTTACCCTTATTTTTTTGGTCTCACTTAAGCCTATTTTTCATTAATCTTATCTTGCTCTACTATATGCATTTTCATAAGATGTTTTAAATACTCTTTGGTTTGAGCTAAGGCATATAGAAAAATGAATAAATTTCTTGTAAGAAAGAAGAAAAATGACTTCTAGAAATTCAAAAAACATTTATTAGATGCATGCCAAGTGTGGGCATTTTATTAAGTACTGCTATTACTTTTAGACAAAAAAAAAATGGGAAGTACAACAGGTTAGGAAAAGAACACTTGAATTCAGTGTTGGACCAATCTGCTTTTGAGAGCAGACATCTTCACATGGATAGAAAATAAGCCAAGACTCAAGCCTTTAGGCAGAACACTTAAGTAGCATTTACTGTGTGCCAGGCACTATTCTGAGTGATTTGCGTATTTATTAAAACTGTAATCTTCACAACTCTATGAGGTAGGTATTATTATTTCCATATTATAGGTTAGGAAAGCCACATAGCCCCTGAGTCACGTCGCTAATAAACAGAGCTAGGTTTCAATCCAGGCAGAGTTCTCATTCTTAACCATTATATTATTCTGTTTAAGAACACTGTGCTAAGAAAAAGGAGCTTTGGGTTTTTGGTCCTGGCTCTGCTACTAATAACAATCCTGACTCCAAAACCTAACAAACGACATTCTGAACTCTGTTTCTGATTCTGCAAAATAAGAATATTGTACTAGAATTTTTATGGTCCAATCTAGCTTTGAAACTTTATGGTTCTATGGACAAAGTCTATCTTTATGTTCCCTTGCTTTGTTTTCATCTTTATGGACTTCCTATTTGCTTACTCCTATCATTTTATTTTTTATTTTTTTTGGAGACAGAATCTTGCTCTGTTGATTAGGCTGGAGTGCAGCAGTGCAGTGGAGTGAGCATGCCTCGACCTCCTGAGCTCACGTGATCCTCCCACCTCTGCCTCCCGAGTAGCTGCCACCATGTGTGACTAATTTTTTTATTTTTATTTTTGTAGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGTCTCCAACTCCTGGGCTGAAAGTGATCCTCCCGCCTTGGCCTCCCAAAGCACTGACATTCCAGGTGTGAGCCACTGTGCCTGGCCTATCTTTTCCATTACATACTGAAAGATGTTTCTTGGAGATGTTTTCCTCTCTGAAATTCCTTCGTGATCTCTAATTACAACAACTCTGGTTCCAAGTCATTCCCAGTAGCAAGCTTCACTTATGTATTATCAAACTTTATAGTAACAGTATATTATGTAAAATAAATTCCAGTATTAACTTTCAGTAATTACCCTAGATTCTCAATGTCAAACAACCTAAAACCAACTCTTCCCATAATTAAAAAGCTCTATCTTCCCTAGTGTGGTAACCTCATTTCCCCATAAAGATTCAGAACACAAAGATCATCCTTTCAGAGAAAATAATGCTCCTAGTACCTGTAGAGGTTAATATCCGCAAATGACTTGCTATTATTGATGGCAAATACACAGAGGAAGCCTTCGCCTGTCCTCATGTATTGGTCTCTCATGGCACTGTACTCTTCTTGTCCAGCTGTATCCAGTATGTCCAACAAACAGGTTTCACCATCTATAACCACTTGTTTTCTGTAAGAATCCTGGGGGTGTGGAGGGTAAGGGGGGCAGGGAGGGAGGGAAGTTCAATTTTTATTAAAAACCACAGGGAATGCAATGCTATTGCCAAGGTTAAATAAGCATCTAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTAAAGAAATCTAAACATACCTCCACCAATTATAACCTGGCCCTATATACATCATTTGTGTTTATGACTAAATATACAAATACCTTTGTTTCAGAGAAGGTTTTTTTTTTATCATGACAGATGTACCTTTGGGAAATATTCCTGAATCAAATTCTTAAAGGTTCCAAACAAGGTATAGTTATGTTTAATTTCTCAGGAAGACAAACATGCATAGATCATATAAAAAATACTTTCATTTTGGTTTTATGGCAACAGGACTTTTACTTGTATTTTAATGTCATCACACTTGGAGAACTCTCTGGAGTACTGGAAGTGCTCTATACTGTTATCTGGGTGGTAGCTACATGACTATATAGAAACGCAAAAAGCACTGGGCTGTAGACATAAAATTTATGTATTTTACTTATGTAAATTGCTCAATAAATCAAACATTTAAAAATATTTAATTAAAATATTAAACATTTCATGTAAAATATTAAAGCTGTTAAGCTCAAAATAAAGATTTTGCCAAGGGTTAGCAACCAATTTTTTATAGTGGCTACATTAGAGTTAGTTTTCATCAATTAAACACGAGTAGCCAGATGGTAGGGAGGCCAGGTGTTGATTAAAATAATCTCTAAAGTTAGGCATTTCTAAACTGAACAAAATTACAAAACCCTTTATTTATTTATCTATTTATTTATTTTTTGAGACGAAGTCTCGCTCTGTTGCCCAGGCTGGAGGTCTGTGGTGTGATCTCGGCTCACTGCACCCTCTGCCTCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGCAAAACCCTTTATTTAAAGAGCCTTAGGTGCCACTTACTGAAGACAATCTGTACCATGAACTCTCATAATAACAATAGAATCCCTAAGTACTATTACATAGTGCTTTACCATTCATAAATAACTTAAATATATTATTTAACTTTCCATAACATCCCTGTGTGGTAGGCAGGACAAGTTTATGGTAATTTAAAACATGAGGAAAATGAGGTTGGGAGAGATTCAGTTGCTCAATATCACACAACTAAATAAACTGCAAACAGGGACCAAAATCCTAGGCATAAAGACTAAAAATCTCAAGTTCTTGCTACTCCAATCATCTGGTCTCAGCTGCTTCAACTAGCTAATAAATAAATATTGAAGAACACTCATCTCTGAATCCTTTATCTCCATCCTATTATCTCCCATACAATCAGACAGTCTCGCTACTATGGCCTGTGTTTCTCATGTAATAGAGCTGTTATATATGAAGAAACTCATGAATGAACTCAACACTGAGTTTGCAATAGTTTACAGAACTGTTAAAAACTGGACAGGTTTTAGAAACTTCAGCAGCTAATAAAAATGAACTGTTCTCTATAAACACGTTAAGCTTATTGCATAACTGAATGTATACCCAAAATAACTTTTTACTTTCTCTCCTCTTATTCCTTTAATACAGAATATGGGTAAAGATGATCCGACAAGTGAGAGACAGGATCAGGTCAGCGGGCTACCACTGGG	benign	13,452
Does the variant impacting TSHB (thyroid stimulating hormone subunit beta) on chromosome 1, position 115034038, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Isolated_thyroid-stimulating_hormone_deficiency']	TGTAGGTCTTAAAGTCTTAATTTGGACTCTTTCAGAGCACTAGAACAATCTGCGTTTTTATTATTTGTGTTCATATTAGCTCCTCCACTGGACAGTCAGCCCTTTAGGTAAAGGACCGTAGCTTTTCCGTTTGTGTTTGTCAGTGCCTGGTTCAGATGCTCAATATATGTTTATCTAATTTATCTACAATTCTCATTCTAGGAATAGAAGGTTGATTGAAATGACCACTGATCTCTGGAATTTGACATTTAAAATAAATCCCTGGTAACCTGTGTAATGTGGTTTTCATGGTTTCTTATAAGTTGATTGAAAAAAAAATCCTGGTTAACCAAGGCCGAACCTATGAGGTTTCAGTTTACAGAGGTTTTAGTGTATATAGCTTAAAGATGCTGTTGGGATATAACTGACAGATTTGGGGAAATCTTGGTACTTCTGATTATTGAACAAAATATTTAGTAAATTATATTTTATTTAATAGAACAAGCAAACAAGTTTATGTTCATAGACCACAATACTACTCCATTAAGGTATATATTTTCTTTACTGACAATGATACTTGAGAAGGAAAAAAATCCAAACACATCTAGCTAGCTGTACAATATTTGTAAGATTAAAAAAATTCTTCTTAATCTTCAAGGTGATCAACTTACATTCAAAAGTCTGAAATTTAATTACCCTTCCTCAGTAGTAGACCTAAAATAATTATGTCATAACATTATCCAGAGGGATAATGATATCAATATCAATATCATATCAATATCATATTGATATGATATATCCAATATGATATCATATCCAATATAACTATATCCAATCAATACATATTGATAATGATATCCAATTGATATTGAACAAGTTCTTCATCACGCAGGCTCTATTGAGATGCATGTTCTGTTTCTGCCTGAGGCACTGTGGATCCTCTATTTTCTTCCATGCATCCAAAAATTATTTAATATTCCTGGCTAACCCATAATGGAGCTGTCATCCTTGATTGTATTCTTCTAATTGTGTCAACCTTTTTTTTTTTTTTGCCTGTTAATCTTTTTGAGAACAAATTACATACCTGTTCTGTGTAAAATAATCTTTAATTTGTCCCAGCTGTACATATTTCCACCTTAAAGGGATATCCTAAGGGTTTGGAAGTGGGATCAGGGGGTTCCTAGATTTCTGAGTTAGCCCCTTAACACCAGTTGTAATTTCAGTTGACCTTTTTTGGACTTTATCTTTCTGGTGTCTTCCTTGACCAAATGGTAGAATTATAAGCATGATCATATGCATTGGGATGGTACTGAAGTTTGGTTATACTTTTTCTTGGTTTCTTTGCCCTTTCTGATTTTAACAAATAGGTTCTTTAATTTTATCTTTGATTTAGCATGACTGCTCTCTTTCTGATGTCCATGCTTTTTGGCCTTACATGTGGGCAAGCGATGTCTTTTTGTATTCCAACTGAGTATACAATGCACATCGAAAGGAGAGAGTGTGCTTATTGCCTAACCATCAACACCACCATCTGTGCTGGATATTGTATGACACGGGTATGTAGTTCATGTCACTTCTTTTGGCTGTAAATTATATAAGCCCTGAAGAAGTCCATTCCTATATAGAAAGGAAATGAAATAAATCACAACCTCATTTCCCAAATCTAATGGTTATTGGCTCCTTAGAAGCAGAGTACACAGGTTACAATATTATGTGAATCTACTCAGCACAATGGATACGCATAATTTTATAACAGTTTTGTGTCCCAGCTTTACTTAAACCTTATCTTGTTCCCATGATCAACGATGAAAGAGAGGAGGGTCTCACTTTTGTCTCTGTAGAATTCAACGTGGTTAAGTTGGTATTGGAGAATGGGGCTAAGCAATTCTTTCCCAGTTGTATTTGTGATGAAGGAATATAAGTGAATTTATTTTTATGTTTCTATTATCTATATGTTTCCTAAAGTCCTGTCACATTATGCTCTCTTTTCTGTTCTTTCCCCAGGATATCAATGGCAAACTGTTTCTTCCCAAATATGCTCTGTCCCAGGATGTTTGCACATATAGAGACTTCATCTACAGGACTGTAGAAATACCAGGATGCCCACTCCATGTTGCTCCCTATTTTTCCTATCCTGTTGCTTTAAGCTGTAAGTGTGGCAAGTGCAATACTGACTATAGTGACTGCATACATGAAGCCATCAAGACAAACTACTGTACCAAACCTCAGAAGTCTTATCTGGTAGGATTTTCTGTCTAATAGTGATATAATTTGCAATTTGGTTAAATGTGCTTGCCTGAAATAAAGCTAATAAAAATATTATGTTTCACATTATCTTCTGTTCATTTTGAGTACTATTTAATCCATACCCATACCTACACAGGCGTTAGAGAGCTTAAGTGGTTTTAGAAGAAAAGGTGAATGAATGGACCTTTTGGGCTCAGTTGAAGGTTGGTTTTCACGTGAAAGAGCAGAGTGGTGGTAAAATGGAGAACAGGGATATGAAATGCCAAAAAGCTCACCTTGAACAGTCTCTCCTAACAGAGGGCCAGGAGGTTTCTATGATATAGAAAGTGAATGTGGGATGACTACAGAGTTATGAAGAGAGAGTAATGTGATCAAAAGCTGAAGGAACACATGGTGTCAGGATACTGGAGACATCTACTTCCAAAGGCTAGAAGCAGGGCTGGCATGGAGGTGGGGAGTAAGGAGCATGTGGAATCTACAGTGGAGTGCTTTATTCCTGGTCATTCAAATGCACTGGATAAAACTCCACCCAAACTCAGAAGAGTCTAGGAACTATTTTCTTTAATTAATTACTCTGGTGCACCAAGTGACCTATGAAAGTTATACCCCAAAAAGTCAGTTTACAAAGCCTAGAAAAGAGGCCACGATCATTTTACATGTGGAAGTCTAAATCCTTTGTAGGCCTTCAAGTAATAGGAGATGCTTTTCAGCATTTATACCAAAAGTAACTGGTGCTGTTTTGACTTTTAATGTAATGAAAAACTGGTATGACAATAAAAGGTTTTAGGGATGGGGGAGAGTGCAAAGGGATTTGAGAGAGTGGAATTATTCTAAATTCTAATCTAAACCTTCATCAATATTGAAACACTGTTTTCTGGTAAATGTGCTTGGTAAGCAGCTGTTTATTTTTATTCTCCTTCCTTAGACACTCTTTCATGAGAATTTGGTTTCAACAGATGATTGACGTGAGACAGACCCAGTGCCCTGTAGACTTGATCTCAAAAAGTTGATATATCCTCTCTTTGTCCATTCCTTTTCATTCACACTGCCCCACCAAGGTGAAAAACAGTTGTCAGCAGGGCCAGTTGCCTTTGCTGTATTCTATAGCCACCAGTTAAATTCAGCTAGGCATACTGTAAATGTCTGTATGCTGATTGATAGTGCATGGGGTGGGCTGAGGAGGGTGGTGGTGGTAGTGGTGGGGTCCTGTAGATGGATTAGTACAACAGGGAGGGAATAGATGTGTATTTACATACAAAAGTCAGAACTCACATTATTTTACTTTAATATCTGAAATTGGTATTTGTGTGGTCTCCACATATTAATCTAGGGTTTTGTGTTCTCATATCAGCTGATAACATGGACATTTAAAGCTGCATACCACTTAAACTGTATGTCAAATACAGATCTTTAATAAATAAAAAGTCTAATGTTCAAATCTAACAGGGACTAGTCACAAATGCCTTCATGGATTCTGAAAAAGTTTTCTCAAGGATTTGAACTGTCTGAGTCTAAGTGCAATAAAAATTCTTTTATAAAGTTAACTTCCACTCTACTGTTCACTGTTGGGTTCTTCCCTACTTGCTTATCTCTCCTGGTTAATCCCCACTTATAAGACAACTCTATCTCACTTTCTCTACTTCTGCTACCCTCCTTCTACCTGCCGTTTCTGCCTGCTTAGCATCCATGTCTCTTCTTCTGGTAGCTGCACCTTGATTTCCCTCTGGGGTTCTCTTCACCTACAGTTTGAGTTCAAGTGGTTTCAGTGGGGATGATGAGGGTGGGTATGCTACTAGGCTCAACCAAACCTGGACTATTAGAAAGAGAAGTGGTTGGCCTGTTGGAGTTCCTAAACTGATAAAATGTGAGC	TGTAGGTCTTAAAGTCTTAATTTGGACTCTTTCAGAGCACTAGAACAATCTGCGTTTTTATTATTTGTGTTCATATTAGCTCCTCCACTGGACAGTCAGCCCTTTAGGTAAAGGACCGTAGCTTTTCCGTTTGTGTTTGTCAGTGCCTGGTTCAGATGCTCAATATATGTTTATCTAATTTATCTACAATTCTCATTCTAGGAATAGAAGGTTGATTGAAATGACCACTGATCTCTGGAATTTGACATTTAAAATAAATCCCTGGTAACCTGTGTAATGTGGTTTTCATGGTTTCTTATAAGTTGATTGAAAAAAAAATCCTGGTTAACCAAGGCCGAACCTATGAGGTTTCAGTTTACAGAGGTTTTAGTGTATATAGCTTAAAGATGCTGTTGGGATATAACTGACAGATTTGGGGAAATCTTGGTACTTCTGATTATTGAACAAAATATTTAGTAAATTATATTTTATTTAATAGAACAAGCAAACAAGTTTATGTTCATAGACCACAATACTACTCCATTAAGGTATATATTTTCTTTACTGACAATGATACTTGAGAAGGAAAAAAATCCAAACACATCTAGCTAGCTGTACAATATTTGTAAGATTAAAAAAATTCTTCTTAATCTTCAAGGTGATCAACTTACATTCAAAAGTCTGAAATTTAATTACCCTTCCTCAGTAGTAGACCTAAAATAATTATGTCATAACATTATCCAGAGGGATAATGATATCAATATCAATATCATATCAATATCATATTGATATGATATATCCAATATGATATCATATCCAATATAACTATATCCAATCAATACATATTGATAATGATATCCAATTGATATTGAACAAGTTCTTCATCACGCAGGCTCTATTGAGATGCATGTTCTGTTTCTGCCTGAGGCACTGTGGATCCTCTATTTTCTTCCATGCATCCAAAAATTATTTAATATTCCTGGCTAACCCATAATGGAGCTGTCATCCTTGATTGTATTCTTCTAATTGTGTCAACCTTTTTTTTTTTTTTGCCTGTTAATCTTTTTGAGAACAAATTACATACCTGTTCTGTGTAAAATAATCTTTAATTTGTCCCAGCTGTACATATTTCCACCTTAAAGGGATATCCTAAGGGTTTGGAAGTGGGATCAGGGGGTTCCTAGATTTCTGAGTTAGCCCCTTAACACCAGTTGTAATTTCAGTTGACCTTTTTTGGACTTTATCTTTCTGGTGTCTTCCTTGACCAAATGGTAGAATTATAAGCATGATCATATGCATTGGGATGGTACTGAAGTTTGGTTATACTTTTTCTTGGTTTCTTTGCCCTTTCTGATTTTAACAAATAGGTTCTTTAATTTTATCTTTGATTTAGCATGACTGCTCTCTTTCTGATGTCCATGCTTTTTGGCCTTACATGTGGGCAAGCGATGTCTTTTTGTATTCCAACTGAGTATACAATGCACATCGAAAGGAGAGAGTGTGCTTATTGCCTAACCATCAACACCACCATCTGTGCTGGATATTGTATGACACGGGTATGTAGTTCATGTCACTTCTTTTGGCTGTAAATTATATAAGCCCTGAAGAAGTCCATTCCTATATAGAAAGGAAATGAAATAAATCACAACCTCATTTCCCAAATCTAATGGTTATTGGCTCCTTAGAAGCAGAGTACACAGGTTACAATATTATGTGAATCTACTCAGCACAATGGATACGCATAATTTTATAACAGTTTTGTGTCCCAGCTTTACTTAAACCTTATCTTGTTCCCATGATCAACGATGAAAGAGAGGAGGGTCTCACTTTTGTCTCTGTAGAATTCAACGTGGTTAAGTTGGTATTGGAGAATGGGGCTAAGCAATTCTTTCCCAGTTGTATTTGTGATGAAGGAATATAAGTGAATTTATTTTTATGTTTCTATTATCTATATGTTTCCTAAAGTCCTGTCACATTATGCTCTCTTTTCTGTTCTTTCCCCAGGATATCAATGGCAAACTGTTTCTTCCCAAATATGCTCTGTCCCAGGATGTTTGCACATATAGAGACTCATCTACAGGACTGTAGAAATACCAGGATGCCCACTCCATGTTGCTCCCTATTTTTCCTATCCTGTTGCTTTAAGCTGTAAGTGTGGCAAGTGCAATACTGACTATAGTGACTGCATACATGAAGCCATCAAGACAAACTACTGTACCAAACCTCAGAAGTCTTATCTGGTAGGATTTTCTGTCTAATAGTGATATAATTTGCAATTTGGTTAAATGTGCTTGCCTGAAATAAAGCTAATAAAAATATTATGTTTCACATTATCTTCTGTTCATTTTGAGTACTATTTAATCCATACCCATACCTACACAGGCGTTAGAGAGCTTAAGTGGTTTTAGAAGAAAAGGTGAATGAATGGACCTTTTGGGCTCAGTTGAAGGTTGGTTTTCACGTGAAAGAGCAGAGTGGTGGTAAAATGGAGAACAGGGATATGAAATGCCAAAAAGCTCACCTTGAACAGTCTCTCCTAACAGAGGGCCAGGAGGTTTCTATGATATAGAAAGTGAATGTGGGATGACTACAGAGTTATGAAGAGAGAGTAATGTGATCAAAAGCTGAAGGAACACATGGTGTCAGGATACTGGAGACATCTACTTCCAAAGGCTAGAAGCAGGGCTGGCATGGAGGTGGGGAGTAAGGAGCATGTGGAATCTACAGTGGAGTGCTTTATTCCTGGTCATTCAAATGCACTGGATAAAACTCCACCCAAACTCAGAAGAGTCTAGGAACTATTTTCTTTAATTAATTACTCTGGTGCACCAAGTGACCTATGAAAGTTATACCCCAAAAAGTCAGTTTACAAAGCCTAGAAAAGAGGCCACGATCATTTTACATGTGGAAGTCTAAATCCTTTGTAGGCCTTCAAGTAATAGGAGATGCTTTTCAGCATTTATACCAAAAGTAACTGGTGCTGTTTTGACTTTTAATGTAATGAAAAACTGGTATGACAATAAAAGGTTTTAGGGATGGGGGAGAGTGCAAAGGGATTTGAGAGAGTGGAATTATTCTAAATTCTAATCTAAACCTTCATCAATATTGAAACACTGTTTTCTGGTAAATGTGCTTGGTAAGCAGCTGTTTATTTTTATTCTCCTTCCTTAGACACTCTTTCATGAGAATTTGGTTTCAACAGATGATTGACGTGAGACAGACCCAGTGCCCTGTAGACTTGATCTCAAAAAGTTGATATATCCTCTCTTTGTCCATTCCTTTTCATTCACACTGCCCCACCAAGGTGAAAAACAGTTGTCAGCAGGGCCAGTTGCCTTTGCTGTATTCTATAGCCACCAGTTAAATTCAGCTAGGCATACTGTAAATGTCTGTATGCTGATTGATAGTGCATGGGGTGGGCTGAGGAGGGTGGTGGTGGTAGTGGTGGGGTCCTGTAGATGGATTAGTACAACAGGGAGGGAATAGATGTGTATTTACATACAAAAGTCAGAACTCACATTATTTTACTTTAATATCTGAAATTGGTATTTGTGTGGTCTCCACATATTAATCTAGGGTTTTGTGTTCTCATATCAGCTGATAACATGGACATTTAAAGCTGCATACCACTTAAACTGTATGTCAAATACAGATCTTTAATAAATAAAAAGTCTAATGTTCAAATCTAACAGGGACTAGTCACAAATGCCTTCATGGATTCTGAAAAAGTTTTCTCAAGGATTTGAACTGTCTGAGTCTAAGTGCAATAAAAATTCTTTTATAAAGTTAACTTCCACTCTACTGTTCACTGTTGGGTTCTTCCCTACTTGCTTATCTCTCCTGGTTAATCCCCACTTATAAGACAACTCTATCTCACTTTCTCTACTTCTGCTACCCTCCTTCTACCTGCCGTTTCTGCCTGCTTAGCATCCATGTCTCTTCTTCTGGTAGCTGCACCTTGATTTCCCTCTGGGGTTCTCTTCACCTACAGTTTGAGTTCAAGTGGTTTCAGTGGGGATGATGAGGGTGGGTATGCTACTAGGCTCAACCAAACCTGGACTATTAGAAAGAGAAGTGGTTGGCCTGTTGGAGTTCCTAAACTGATAAAATGTGAGCN	pathogenic	13,479
Evaluate this variant at chromosome 1, position 115034182, gene TSHB (thyroid stimulating hormone subunit beta): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Isolated_thyroid-stimulating_hormone_deficiency', 'Pituitary_hypothyroidism']	GCCTGGTTCAGATGCTCAATATATGTTTATCTAATTTATCTACAATTCTCATTCTAGGAATAGAAGGTTGATTGAAATGACCACTGATCTCTGGAATTTGACATTTAAAATAAATCCCTGGTAACCTGTGTAATGTGGTTTTCATGGTTTCTTATAAGTTGATTGAAAAAAAAATCCTGGTTAACCAAGGCCGAACCTATGAGGTTTCAGTTTACAGAGGTTTTAGTGTATATAGCTTAAAGATGCTGTTGGGATATAACTGACAGATTTGGGGAAATCTTGGTACTTCTGATTATTGAACAAAATATTTAGTAAATTATATTTTATTTAATAGAACAAGCAAACAAGTTTATGTTCATAGACCACAATACTACTCCATTAAGGTATATATTTTCTTTACTGACAATGATACTTGAGAAGGAAAAAAATCCAAACACATCTAGCTAGCTGTACAATATTTGTAAGATTAAAAAAATTCTTCTTAATCTTCAAGGTGATCAACTTACATTCAAAAGTCTGAAATTTAATTACCCTTCCTCAGTAGTAGACCTAAAATAATTATGTCATAACATTATCCAGAGGGATAATGATATCAATATCAATATCATATCAATATCATATTGATATGATATATCCAATATGATATCATATCCAATATAACTATATCCAATCAATACATATTGATAATGATATCCAATTGATATTGAACAAGTTCTTCATCACGCAGGCTCTATTGAGATGCATGTTCTGTTTCTGCCTGAGGCACTGTGGATCCTCTATTTTCTTCCATGCATCCAAAAATTATTTAATATTCCTGGCTAACCCATAATGGAGCTGTCATCCTTGATTGTATTCTTCTAATTGTGTCAACCTTTTTTTTTTTTTTGCCTGTTAATCTTTTTGAGAACAAATTACATACCTGTTCTGTGTAAAATAATCTTTAATTTGTCCCAGCTGTACATATTTCCACCTTAAAGGGATATCCTAAGGGTTTGGAAGTGGGATCAGGGGGTTCCTAGATTTCTGAGTTAGCCCCTTAACACCAGTTGTAATTTCAGTTGACCTTTTTTGGACTTTATCTTTCTGGTGTCTTCCTTGACCAAATGGTAGAATTATAAGCATGATCATATGCATTGGGATGGTACTGAAGTTTGGTTATACTTTTTCTTGGTTTCTTTGCCCTTTCTGATTTTAACAAATAGGTTCTTTAATTTTATCTTTGATTTAGCATGACTGCTCTCTTTCTGATGTCCATGCTTTTTGGCCTTACATGTGGGCAAGCGATGTCTTTTTGTATTCCAACTGAGTATACAATGCACATCGAAAGGAGAGAGTGTGCTTATTGCCTAACCATCAACACCACCATCTGTGCTGGATATTGTATGACACGGGTATGTAGTTCATGTCACTTCTTTTGGCTGTAAATTATATAAGCCCTGAAGAAGTCCATTCCTATATAGAAAGGAAATGAAATAAATCACAACCTCATTTCCCAAATCTAATGGTTATTGGCTCCTTAGAAGCAGAGTACACAGGTTACAATATTATGTGAATCTACTCAGCACAATGGATACGCATAATTTTATAACAGTTTTGTGTCCCAGCTTTACTTAAACCTTATCTTGTTCCCATGATCAACGATGAAAGAGAGGAGGGTCTCACTTTTGTCTCTGTAGAATTCAACGTGGTTAAGTTGGTATTGGAGAATGGGGCTAAGCAATTCTTTCCCAGTTGTATTTGTGATGAAGGAATATAAGTGAATTTATTTTTATGTTTCTATTATCTATATGTTTCCTAAAGTCCTGTCACATTATGCTCTCTTTTCTGTTCTTTCCCCAGGATATCAATGGCAAACTGTTTCTTCCCAAATATGCTCTGTCCCAGGATGTTTGCACATATAGAGACTTCATCTACAGGACTGTAGAAATACCAGGATGCCCACTCCATGTTGCTCCCTATTTTTCCTATCCTGTTGCTTTAAGCTGTAAGTGTGGCAAGTGCAATACTGACTATAGTGACTGCATACATGAAGCCATCAAGACAAACTACTGTACCAAACCTCAGAAGTCTTATCTGGTAGGATTTTCTGTCTAATAGTGATATAATTTGCAATTTGGTTAAATGTGCTTGCCTGAAATAAAGCTAATAAAAATATTATGTTTCACATTATCTTCTGTTCATTTTGAGTACTATTTAATCCATACCCATACCTACACAGGCGTTAGAGAGCTTAAGTGGTTTTAGAAGAAAAGGTGAATGAATGGACCTTTTGGGCTCAGTTGAAGGTTGGTTTTCACGTGAAAGAGCAGAGTGGTGGTAAAATGGAGAACAGGGATATGAAATGCCAAAAAGCTCACCTTGAACAGTCTCTCCTAACAGAGGGCCAGGAGGTTTCTATGATATAGAAAGTGAATGTGGGATGACTACAGAGTTATGAAGAGAGAGTAATGTGATCAAAAGCTGAAGGAACACATGGTGTCAGGATACTGGAGACATCTACTTCCAAAGGCTAGAAGCAGGGCTGGCATGGAGGTGGGGAGTAAGGAGCATGTGGAATCTACAGTGGAGTGCTTTATTCCTGGTCATTCAAATGCACTGGATAAAACTCCACCCAAACTCAGAAGAGTCTAGGAACTATTTTCTTTAATTAATTACTCTGGTGCACCAAGTGACCTATGAAAGTTATACCCCAAAAAGTCAGTTTACAAAGCCTAGAAAAGAGGCCACGATCATTTTACATGTGGAAGTCTAAATCCTTTGTAGGCCTTCAAGTAATAGGAGATGCTTTTCAGCATTTATACCAAAAGTAACTGGTGCTGTTTTGACTTTTAATGTAATGAAAAACTGGTATGACAATAAAAGGTTTTAGGGATGGGGGAGAGTGCAAAGGGATTTGAGAGAGTGGAATTATTCTAAATTCTAATCTAAACCTTCATCAATATTGAAACACTGTTTTCTGGTAAATGTGCTTGGTAAGCAGCTGTTTATTTTTATTCTCCTTCCTTAGACACTCTTTCATGAGAATTTGGTTTCAACAGATGATTGACGTGAGACAGACCCAGTGCCCTGTAGACTTGATCTCAAAAAGTTGATATATCCTCTCTTTGTCCATTCCTTTTCATTCACACTGCCCCACCAAGGTGAAAAACAGTTGTCAGCAGGGCCAGTTGCCTTTGCTGTATTCTATAGCCACCAGTTAAATTCAGCTAGGCATACTGTAAATGTCTGTATGCTGATTGATAGTGCATGGGGTGGGCTGAGGAGGGTGGTGGTGGTAGTGGTGGGGTCCTGTAGATGGATTAGTACAACAGGGAGGGAATAGATGTGTATTTACATACAAAAGTCAGAACTCACATTATTTTACTTTAATATCTGAAATTGGTATTTGTGTGGTCTCCACATATTAATCTAGGGTTTTGTGTTCTCATATCAGCTGATAACATGGACATTTAAAGCTGCATACCACTTAAACTGTATGTCAAATACAGATCTTTAATAAATAAAAAGTCTAATGTTCAAATCTAACAGGGACTAGTCACAAATGCCTTCATGGATTCTGAAAAAGTTTTCTCAAGGATTTGAACTGTCTGAGTCTAAGTGCAATAAAAATTCTTTTATAAAGTTAACTTCCACTCTACTGTTCACTGTTGGGTTCTTCCCTACTTGCTTATCTCTCCTGGTTAATCCCCACTTATAAGACAACTCTATCTCACTTTCTCTACTTCTGCTACCCTCCTTCTACCTGCCGTTTCTGCCTGCTTAGCATCCATGTCTCTTCTTCTGGTAGCTGCACCTTGATTTCCCTCTGGGGTTCTCTTCACCTACAGTTTGAGTTCAAGTGGTTTCAGTGGGGATGATGAGGGTGGGTATGCTACTAGGCTCAACCAAACCTGGACTATTAGAAAGAGAAGTGGTTGGCCTGTTGGAGTTCCTAAACTGATAAAATGTGAGCCTGGAGTTGCTGCTGGCCATCTTTGGCATCCCTTGGAAACAGCTAGCTGTCCAACCCAGTGGAGAGCAAGAGAGACTGAGGAGAGAGAGGCCTATTGATATCATTTGAGCCTAATCTGAAGCTGGCTTCACCCCTTAAAAGAAA	GCCTGGTTCAGATGCTCAATATATGTTTATCTAATTTATCTACAATTCTCATTCTAGGAATAGAAGGTTGATTGAAATGACCACTGATCTCTGGAATTTGACATTTAAAATAAATCCCTGGTAACCTGTGTAATGTGGTTTTCATGGTTTCTTATAAGTTGATTGAAAAAAAAATCCTGGTTAACCAAGGCCGAACCTATGAGGTTTCAGTTTACAGAGGTTTTAGTGTATATAGCTTAAAGATGCTGTTGGGATATAACTGACAGATTTGGGGAAATCTTGGTACTTCTGATTATTGAACAAAATATTTAGTAAATTATATTTTATTTAATAGAACAAGCAAACAAGTTTATGTTCATAGACCACAATACTACTCCATTAAGGTATATATTTTCTTTACTGACAATGATACTTGAGAAGGAAAAAAATCCAAACACATCTAGCTAGCTGTACAATATTTGTAAGATTAAAAAAATTCTTCTTAATCTTCAAGGTGATCAACTTACATTCAAAAGTCTGAAATTTAATTACCCTTCCTCAGTAGTAGACCTAAAATAATTATGTCATAACATTATCCAGAGGGATAATGATATCAATATCAATATCATATCAATATCATATTGATATGATATATCCAATATGATATCATATCCAATATAACTATATCCAATCAATACATATTGATAATGATATCCAATTGATATTGAACAAGTTCTTCATCACGCAGGCTCTATTGAGATGCATGTTCTGTTTCTGCCTGAGGCACTGTGGATCCTCTATTTTCTTCCATGCATCCAAAAATTATTTAATATTCCTGGCTAACCCATAATGGAGCTGTCATCCTTGATTGTATTCTTCTAATTGTGTCAACCTTTTTTTTTTTTTTGCCTGTTAATCTTTTTGAGAACAAATTACATACCTGTTCTGTGTAAAATAATCTTTAATTTGTCCCAGCTGTACATATTTCCACCTTAAAGGGATATCCTAAGGGTTTGGAAGTGGGATCAGGGGGTTCCTAGATTTCTGAGTTAGCCCCTTAACACCAGTTGTAATTTCAGTTGACCTTTTTTGGACTTTATCTTTCTGGTGTCTTCCTTGACCAAATGGTAGAATTATAAGCATGATCATATGCATTGGGATGGTACTGAAGTTTGGTTATACTTTTTCTTGGTTTCTTTGCCCTTTCTGATTTTAACAAATAGGTTCTTTAATTTTATCTTTGATTTAGCATGACTGCTCTCTTTCTGATGTCCATGCTTTTTGGCCTTACATGTGGGCAAGCGATGTCTTTTTGTATTCCAACTGAGTATACAATGCACATCGAAAGGAGAGAGTGTGCTTATTGCCTAACCATCAACACCACCATCTGTGCTGGATATTGTATGACACGGGTATGTAGTTCATGTCACTTCTTTTGGCTGTAAATTATATAAGCCCTGAAGAAGTCCATTCCTATATAGAAAGGAAATGAAATAAATCACAACCTCATTTCCCAAATCTAATGGTTATTGGCTCCTTAGAAGCAGAGTACACAGGTTACAATATTATGTGAATCTACTCAGCACAATGGATACGCATAATTTTATAACAGTTTTGTGTCCCAGCTTTACTTAAACCTTATCTTGTTCCCATGATCAACGATGAAAGAGAGGAGGGTCTCACTTTTGTCTCTGTAGAATTCAACGTGGTTAAGTTGGTATTGGAGAATGGGGCTAAGCAATTCTTTCCCAGTTGTATTTGTGATGAAGGAATATAAGTGAATTTATTTTTATGTTTCTATTATCTATATGTTTCCTAAAGTCCTGTCACATTATGCTCTCTTTTCTGTTCTTTCCCCAGGATATCAATGGCAAACTGTTTCTTCCCAAATATGCTCTGTCCCAGGATGTTTGCACATATAGAGACTTCATCTACAGGACTGTAGAAATACCAGGATGCCCACTCCATGTTGCTCCCTATTTTTCCTATCCTGTTGCTTTAAGCTGTAAGTGTGGCAAGTGCAATACTGACTATAGTGACTGCATACATGAAGCCATCAAGACAAACTACGTACCAAACCTCAGAAGTCTTATCTGGTAGGATTTTCTGTCTAATAGTGATATAATTTGCAATTTGGTTAAATGTGCTTGCCTGAAATAAAGCTAATAAAAATATTATGTTTCACATTATCTTCTGTTCATTTTGAGTACTATTTAATCCATACCCATACCTACACAGGCGTTAGAGAGCTTAAGTGGTTTTAGAAGAAAAGGTGAATGAATGGACCTTTTGGGCTCAGTTGAAGGTTGGTTTTCACGTGAAAGAGCAGAGTGGTGGTAAAATGGAGAACAGGGATATGAAATGCCAAAAAGCTCACCTTGAACAGTCTCTCCTAACAGAGGGCCAGGAGGTTTCTATGATATAGAAAGTGAATGTGGGATGACTACAGAGTTATGAAGAGAGAGTAATGTGATCAAAAGCTGAAGGAACACATGGTGTCAGGATACTGGAGACATCTACTTCCAAAGGCTAGAAGCAGGGCTGGCATGGAGGTGGGGAGTAAGGAGCATGTGGAATCTACAGTGGAGTGCTTTATTCCTGGTCATTCAAATGCACTGGATAAAACTCCACCCAAACTCAGAAGAGTCTAGGAACTATTTTCTTTAATTAATTACTCTGGTGCACCAAGTGACCTATGAAAGTTATACCCCAAAAAGTCAGTTTACAAAGCCTAGAAAAGAGGCCACGATCATTTTACATGTGGAAGTCTAAATCCTTTGTAGGCCTTCAAGTAATAGGAGATGCTTTTCAGCATTTATACCAAAAGTAACTGGTGCTGTTTTGACTTTTAATGTAATGAAAAACTGGTATGACAATAAAAGGTTTTAGGGATGGGGGAGAGTGCAAAGGGATTTGAGAGAGTGGAATTATTCTAAATTCTAATCTAAACCTTCATCAATATTGAAACACTGTTTTCTGGTAAATGTGCTTGGTAAGCAGCTGTTTATTTTTATTCTCCTTCCTTAGACACTCTTTCATGAGAATTTGGTTTCAACAGATGATTGACGTGAGACAGACCCAGTGCCCTGTAGACTTGATCTCAAAAAGTTGATATATCCTCTCTTTGTCCATTCCTTTTCATTCACACTGCCCCACCAAGGTGAAAAACAGTTGTCAGCAGGGCCAGTTGCCTTTGCTGTATTCTATAGCCACCAGTTAAATTCAGCTAGGCATACTGTAAATGTCTGTATGCTGATTGATAGTGCATGGGGTGGGCTGAGGAGGGTGGTGGTGGTAGTGGTGGGGTCCTGTAGATGGATTAGTACAACAGGGAGGGAATAGATGTGTATTTACATACAAAAGTCAGAACTCACATTATTTTACTTTAATATCTGAAATTGGTATTTGTGTGGTCTCCACATATTAATCTAGGGTTTTGTGTTCTCATATCAGCTGATAACATGGACATTTAAAGCTGCATACCACTTAAACTGTATGTCAAATACAGATCTTTAATAAATAAAAAGTCTAATGTTCAAATCTAACAGGGACTAGTCACAAATGCCTTCATGGATTCTGAAAAAGTTTTCTCAAGGATTTGAACTGTCTGAGTCTAAGTGCAATAAAAATTCTTTTATAAAGTTAACTTCCACTCTACTGTTCACTGTTGGGTTCTTCCCTACTTGCTTATCTCTCCTGGTTAATCCCCACTTATAAGACAACTCTATCTCACTTTCTCTACTTCTGCTACCCTCCTTCTACCTGCCGTTTCTGCCTGCTTAGCATCCATGTCTCTTCTTCTGGTAGCTGCACCTTGATTTCCCTCTGGGGTTCTCTTCACCTACAGTTTGAGTTCAAGTGGTTTCAGTGGGGATGATGAGGGTGGGTATGCTACTAGGCTCAACCAAACCTGGACTATTAGAAAGAGAAGTGGTTGGCCTGTTGGAGTTCCTAAACTGATAAAATGTGAGCCTGGAGTTGCTGCTGGCCATCTTTGGCATCCCTTGGAAACAGCTAGCTGTCCAACCCAGTGGAGAGCAAGAGAGACTGAGGAGAGAGAGGCCTATTGATATCATTTGAGCCTAATCTGAAGCTGGCTTCACCCCTTAAAAGAAAN	pathogenic	13,481
Variant on chromosome 1, at position 115701423, affecting CASQ2 (calsequestrin 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Catecholaminergic_polymorphic_ventricular_tachycardia_1']	TCTAGTTAATCAATTATTCATCCACCAACTCAATAAATGAGTATCTACTTTGTGATGGGCAAAGCGCTAAGTGCTAGGGATTCTAAGATAAATTCCTTGCCTCTAAGGAGCCTGCAATTTAGTGAAAGGACAGACATGCAAATATATGTTATACCTTAAATGATAAGTGACATGATCCAGGGATGCACAAATCACAGGGGGGAAGGGGCACCTTCAGGTCACCTAGACAATTGGATAAATGGTGCTATCACCCACCCAAACTAGGACTCCATGAAGAGGAGAAGATGTTTAGGGGAGAAGGCAATGAGTTCAGGTTTTGTTGTGTTGAGTCTGAAGTGCTTGTACAACAACAAGTCAAGATATCCAGAGGCAGTTGAATGAATGTGTCTAAAAATAAGGCAAGGAGTCAAGGTTAGAGACTCATATTTGGAGGTAATTAGCACATGGATAGTATTGATGGGCACGATGACATCATTTTGGAAGAGTATGTAGAGTTGAGATGCTGTGAAACACCATCATTCAAAGAGCAGGCAGAGGAAGAGGGGCTAGAAAGGAAAATAGAGAAGAAATAAGGAGGTAGGACTGGAGCCAGATGAGAATGAGCAGAGTCAGAAAAATCAAGATAGGATTTTCAACATTGTCTGAATATTTTCAAAATATGAGTTTAATGACAGAATTAGTTAGCTAGTATTCCACAAAAAGTATTGCTCTATTTTCAAAAAATTTGCACAGTGTCTTACACATGTGCTAAAAGATTGAGAAAATAAATTAGAAAATTATACTGCACACTTAACACTAAATCTACCAAGCACAATGTAACTTTTAGACAGCTCAGAAGGCACTTTGGGATTTTTTTTTTTTTCAGTGCCTCAGGGCATCAGTATGAACTCCAATTATTGTTGCCCTGGCCAATTGTGGGAGTACTGATAACTGGAGAGTTAATTGACTGCTGGATAAAGCAATCTTTAATCTAAATGGGAAGGCTCACTAGCAGCTACAGAGAAGGGGTATTCAGATCCCAGCTTAGGCTAGGAAGCCAGCTGACCCAATCAGAGACATGAACCCATCAGAAAAATGTAAAAGTTTTCATCTTTCTAGTTTTCCCCCACCCTCCACTCCTGCTGATGAATATGTGAGACTTGCCAACTAGAGGGAAGTTTAGAGAGCAAATCAACCTCCCATCCCAGTTTCCTAATATACTAGAAATGATGGTGACACCTGTACACATTTCAAGCCCTCTCCATAGCCATCCAAAGGCTTGAATATCCAAGTTCATAGTGATATGAATGACCATCACTTGAAATAAGTTTAACAAAGCCATGAGAATATGATTTATAAGTTTGCTTCCAAGGCTGAGCCTTCTCTAAGAAGGATCATCTTGGCTGGAGGAGGGATCCCAACTGATGTTCGAGGTATGGAGGGAGCTAAATCATTAATCATGTGTCTTCCCTGGGCTCTGATTAAAAGGTCACTCTATGCCTGTGAGTTAGAAAGCTGTCAATTTTGTTACTGTCATAATCAAAGACAAGTAAACTTGTGTTAGGGGATTGTTCACCCTAGACTGCCATGTTCAGGCACTGCCATGACCCTTGATGGTCCAGCAAAGAACAAGATCTGTTCCGTGACAGTCAAGACAGTCAACATGGGAATAATTTTTCTCCTGTCCCTGCTAAGTGGGATTGCTGCATTTGAAAAGGCATTTGCTGAATGATGCTGCTCCTGACGCAAAGGGAGTGGGAAAAGAGATGATGGAAAAGGGAAAGGAGCTGGCTGGGTGTGGGGCAGAATTGCTTGCTGCCACCTTGTGCTGTCTGTATGGTAGTGGGTGCTGTGATTTTGTTTTCATCAGAATTGTTTGGAGTTGGGCTATTCATCATCATCGTCATCACTGTCATCATTATCCTCTTCATCAGAATTATCATCATCATCATCATCTTCATCATCATCTTCAGTGTTTATCTTTCCAGAAAGCACATCCTCAATCCAGTCCTCCAGCTCCTCAGCAGTTGGAAGATCGTCATCATCTGGAATCTCCATCCAGACACTGTCAGCCTGCAGTGAGGGACAAAATGAATGAGTGGGTAAATGCATGAGGGCTGAACCAGACCAGGGATAGCCGTGCTGAATAGCTATGCTGAGTGCCCCCCGACTCTCTTACACTTATTAGGAACGTGCACATTGTTAAATGGAAATGCCAAACGGCAAAACGGTATGTGTAGTATACTGTTTGTGTTGCATAAAAGGAAATGTGTATTCCATTGCCCAGTGGAATATATATGACATTTCTGGTAATATACCCATGCAACAACCACCAGTGGTTCCCTCCAGGAATGAGACTAGGGGTTGGGTCAGGGGAGTAGGAAATACTTTTTACTTTGACCTTCTAATCTACTGTTCTGTTTTAAAATGTTTTCACTTGAGCATGTTTTAAAAGTAATGTATTATTATTAATTTTAAAGTAGCTTACAAAATAAATGAATGTAGAGTTCCCTAGGTGATTGAACACCTATCAACAGGGGAGAAAGACATTGCTAACTGGCCCCCATTCTTTTTTATTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGTGTTACAGGCACCCATGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCTTGGCCCCCATTCTTAAGAGATTCTATCTTAATTAAGTATGGCTCTAATAATCCTCTGTGATCATCCCTTTCTGTCCACTGTTTGCCTGATTGTATCTGTCCCCACTTGAGTTTTATGATGGTGGAGTTGTATGAGATGTATGGACTGAGATCTAAGATTTCCTCGCATTCTGCCAGTGTACCTCACTAGCCTGTCCCACCCTCGGTTCAACAATGCCTGAACTCTGAGGAGAAGCCCCTTACTCGCATATGATTTTCTTCCTTCCCTTCTGCAGGCCTGGTCTCCTGCCTGTAGAGTAGTTGCCTGCCTGGGATTCTAGGCCACAACGGCCCCATCACCCATTGTGCAGTGATGGCTCCTGGTGTGGGTTCCCTTTTGTAAAGAGACCTTTTTGTTTGCTGTTTGACTTTGGGGGTAAATACAGGAGAGTTTACTTGAAGGGAAAGTTCCAAATCAGTGATTCAGGAAAGGCTGGCCCCATAGGCAAGAAAATGTGCCCATGGAAGAGAGCCATGGAACCACAGATTGGGACTGGCTCGGAGACCAGGCGTGGAACACACTGGCAAGTTTCCTTGAGCAGGACCCCTGCCCTCTTCTGAAAAGGCTGGGCTACTATAGATGCTCTCACAATCTAAGCTGTGTAGCAGAAGACAGGGCAGGCCAAGGGTGCCTGAGCAAGCCTTCACAGGGGATACTCACATCTGTGACATTCACCACCCCAATCTGTGGCCTGAATAGGTCAATCTTGAAAGTCTTCTCCCAGTAGGCAACGAGCTGCAGCAACAAAAAAATAAGATTAGACAGCAGGCAGAGGGCATTCTCTGTTAAGGACCCACCCGCCGTCCCATCACAGTAACTAGGTCACCATTGGTTAAAGGTCTTCAAAACAGCTGTGAGCACTTAGCAAATTGAAGACTTGGCCCCAGCCTTCAAGCACTTCAAATAAGCATTAAATAAAAGATGACACAGCATAAATTATGGAAACATGTGTCTGCAGCTGTAAGAGAGAAAATTATAGAGGTGGTCTAATGTTGCTTTCCAAATTACTTGTGGCTGTTTTATAGTTTATAGAGCCATTTCCCTCCACCTCTTTTTAATGTCCCAGTTTTAAAAATACCTTATCTTGTGCTACATGAGATAGCTGGGAAAGCCATGATGGGTCATAAGTTGCCAAGTAAGAAGAAGGCTTCTTCATTCAACCAGGCTTGGACTCCATGTGGACAAATCTCTGACTGGGGCAAAAATAAAG	TCTAGTTAATCAATTATTCATCCACCAACTCAATAAATGAGTATCTACTTTGTGATGGGCAAAGCGCTAAGTGCTAGGGATTCTAAGATAAATTCCTTGCCTCTAAGGAGCCTGCAATTTAGTGAAAGGACAGACATGCAAATATATGTTATACCTTAAATGATAAGTGACATGATCCAGGGATGCACAAATCACAGGGGGGAAGGGGCACCTTCAGGTCACCTAGACAATTGGATAAATGGTGCTATCACCCACCCAAACTAGGACTCCATGAAGAGGAGAAGATGTTTAGGGGAGAAGGCAATGAGTTCAGGTTTTGTTGTGTTGAGTCTGAAGTGCTTGTACAACAACAAGTCAAGATATCCAGAGGCAGTTGAATGAATGTGTCTAAAAATAAGGCAAGGAGTCAAGGTTAGAGACTCATATTTGGAGGTAATTAGCACATGGATAGTATTGATGGGCACGATGACATCATTTTGGAAGAGTATGTAGAGTTGAGATGCTGTGAAACACCATCATTCAAAGAGCAGGCAGAGGAAGAGGGGCTAGAAAGGAAAATAGAGAAGAAATAAGGAGGTAGGACTGGAGCCAGATGAGAATGAGCAGAGTCAGAAAAATCAAGATAGGATTTTCAACATTGTCTGAATATTTTCAAAATATGAGTTTAATGACAGAATTAGTTAGCTAGTATTCCACAAAAAGTATTGCTCTATTTTCAAAAAATTTGCACAGTGTCTTACACATGTGCTAAAAGATTGAGAAAATAAATTAGAAAATTATACTGCACACTTAACACTAAATCTACCAAGCACAATGTAACTTTTAGACAGCTCAGAAGGCACTTTGGGATTTTTTTTTTTTTCAGTGCCTCAGGGCATCAGTATGAACTCCAATTATTGTTGCCCTGGCCAATTGTGGGAGTACTGATAACTGGAGAGTTAATTGACTGCTGGATAAAGCAATCTTTAATCTAAATGGGAAGGCTCACTAGCAGCTACAGAGAAGGGGTATTCAGATCCCAGCTTAGGCTAGGAAGCCAGCTGACCCAATCAGAGACATGAACCCATCAGAAAAATGTAAAAGTTTTCATCTTTCTAGTTTTCCCCCACCCTCCACTCCTGCTGATGAATATGTGAGACTTGCCAACTAGAGGGAAGTTTAGAGAGCAAATCAACCTCCCATCCCAGTTTCCTAATATACTAGAAATGATGGTGACACCTGTACACATTTCAAGCCCTCTCCATAGCCATCCAAAGGCTTGAATATCCAAGTTCATAGTGATATGAATGACCATCACTTGAAATAAGTTTAACAAAGCCATGAGAATATGATTTATAAGTTTGCTTCCAAGGCTGAGCCTTCTCTAAGAAGGATCATCTTGGCTGGAGGAGGGATCCCAACTGATGTTCGAGGTATGGAGGGAGCTAAATCATTAATCATGTGTCTTCCCTGGGCTCTGATTAAAAGGTCACTCTATGCCTGTGAGTTAGAAAGCTGTCAATTTTGTTACTGTCATAATCAAAGACAAGTAAACTTGTGTTAGGGGATTGTTCACCCTAGACTGCCATGTTCAGGCACTGCCATGACCCTTGATGGTCCAGCAAAGAACAAGATCTGTTCCGTGACAGTCAAGACAGTCAACATGGGAATAATTTTTCTCCTGTCCCTGCTAAGTGGGATTGCTGCATTTGAAAAGGCATTTGCTGAATGATGCTGCTCCTGACGCAAAGGGAGTGGGAAAAGAGATGATGGAAAAGGGAAAGGAGCTGGCTGGGTGTGGGGCAGAATTGCTTGCTGCCACCTTGTGCTGTCTGTATGGTAGTGGGTGCTGTGATTTTGTTTTCATCAGAATTGTTTGGAGTTGGGCTATTCATCATCATCGTCATCACTGTCATCATTATCCTCTTCATCAGAATTATCATCATCATCATCATCTTCATCATCATCTTCAGTGTTTATCTTTCCAGAAAGCACATCCTCAATCCAGTCCTCCAGCTCCTCAGCAGTTGGAAGATCGTCATCATCTGGAATCTCCATCCAGACACTGTCAAGCCTGCAGTGAGGGACAAAATGAATGAGTGGGTAAATGCATGAGGGCTGAACCAGACCAGGGATAGCCGTGCTGAATAGCTATGCTGAGTGCCCCCCGACTCTCTTACACTTATTAGGAACGTGCACATTGTTAAATGGAAATGCCAAACGGCAAAACGGTATGTGTAGTATACTGTTTGTGTTGCATAAAAGGAAATGTGTATTCCATTGCCCAGTGGAATATATATGACATTTCTGGTAATATACCCATGCAACAACCACCAGTGGTTCCCTCCAGGAATGAGACTAGGGGTTGGGTCAGGGGAGTAGGAAATACTTTTTACTTTGACCTTCTAATCTACTGTTCTGTTTTAAAATGTTTTCACTTGAGCATGTTTTAAAAGTAATGTATTATTATTAATTTTAAAGTAGCTTACAAAATAAATGAATGTAGAGTTCCCTAGGTGATTGAACACCTATCAACAGGGGAGAAAGACATTGCTAACTGGCCCCCATTCTTTTTTATTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGTGTTACAGGCACCCATGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCTTGGCCCCCATTCTTAAGAGATTCTATCTTAATTAAGTATGGCTCTAATAATCCTCTGTGATCATCCCTTTCTGTCCACTGTTTGCCTGATTGTATCTGTCCCCACTTGAGTTTTATGATGGTGGAGTTGTATGAGATGTATGGACTGAGATCTAAGATTTCCTCGCATTCTGCCAGTGTACCTCACTAGCCTGTCCCACCCTCGGTTCAACAATGCCTGAACTCTGAGGAGAAGCCCCTTACTCGCATATGATTTTCTTCCTTCCCTTCTGCAGGCCTGGTCTCCTGCCTGTAGAGTAGTTGCCTGCCTGGGATTCTAGGCCACAACGGCCCCATCACCCATTGTGCAGTGATGGCTCCTGGTGTGGGTTCCCTTTTGTAAAGAGACCTTTTTGTTTGCTGTTTGACTTTGGGGGTAAATACAGGAGAGTTTACTTGAAGGGAAAGTTCCAAATCAGTGATTCAGGAAAGGCTGGCCCCATAGGCAAGAAAATGTGCCCATGGAAGAGAGCCATGGAACCACAGATTGGGACTGGCTCGGAGACCAGGCGTGGAACACACTGGCAAGTTTCCTTGAGCAGGACCCCTGCCCTCTTCTGAAAAGGCTGGGCTACTATAGATGCTCTCACAATCTAAGCTGTGTAGCAGAAGACAGGGCAGGCCAAGGGTGCCTGAGCAAGCCTTCACAGGGGATACTCACATCTGTGACATTCACCACCCCAATCTGTGGCCTGAATAGGTCAATCTTGAAAGTCTTCTCCCAGTAGGCAACGAGCTGCAGCAACAAAAAAATAAGATTAGACAGCAGGCAGAGGGCATTCTCTGTTAAGGACCCACCCGCCGTCCCATCACAGTAACTAGGTCACCATTGGTTAAAGGTCTTCAAAACAGCTGTGAGCACTTAGCAAATTGAAGACTTGGCCCCAGCCTTCAAGCACTTCAAATAAGCATTAAATAAAAGATGACACAGCATAAATTATGGAAACATGTGTCTGCAGCTGTAAGAGAGAAAATTATAGAGGTGGTCTAATGTTGCTTTCCAAATTACTTGTGGCTGTTTTATAGTTTATAGAGCCATTTCCCTCCACCTCTTTTTAATGTCCCAGTTTTAAAAATACCTTATCTTGTGCTACATGAGATAGCTGGGAAAGCCATGATGGGTCATAAGTTGCCAAGTAAGAAGAAGGCTTCTTCATTCAACCAGGCTTGGACTCCATGTGGACAAATCTCTGACTGGGGCAAAAATAAA	pathogenic	13,557
Clinically, how would you classify the variant at chromosome 1, position 115705205, gene CASQ2 (calsequestrin 2): benign or pathogenic? If pathogenic, specify the associated illness(es).	pathogenic; ['Cardiovascular_phenotype', 'Catecholaminergic_polymorphic_ventricular_tachycardia_1']	ACTTCAAATAAGCATTAAATAAAAGATGACACAGCATAAATTATGGAAACATGTGTCTGCAGCTGTAAGAGAGAAAATTATAGAGGTGGTCTAATGTTGCTTTCCAAATTACTTGTGGCTGTTTTATAGTTTATAGAGCCATTTCCCTCCACCTCTTTTTAATGTCCCAGTTTTAAAAATACCTTATCTTGTGCTACATGAGATAGCTGGGAAAGCCATGATGGGTCATAAGTTGCCAAGTAAGAAGAAGGCTTCTTCATTCAACCAGGCTTGGACTCCATGTGGACAAATCTCTGACTGGGGCAAAAATAAAGGAGCAAGGGGCCACAGGATTTTTTTTTTTAATGGAGATGTCCAGTGGTAGGAAATCTCCCACGCAAATATATGGCCTAGTGGGGACTAGGGATATTCAGGAATCTGGAAATCAGAATAGTCTGAAGATTTCTTCTTTGCAAAAACCAAGGCAAACACATAGAACTGGCCAGAAGAGAGTCTGGGCATGGTGGCTCATGCTTGTAGTCCCAGCACTTTGGGACTGGAGTCCAGGAGTTTGAAACCAGCCTGAGCAACATAGTAAGACCTTGTCTCTACAAGAAATTTTAAAAATTAGCTGGGCGTGGTGGCACATTTCTATAGTCCCAACTGCTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGCCTGGGAGCTTAAGGCTGCAGTAAATTGAGATTATGCCACTGCACTCCAGCCTGGGTGACACAGTGAGACCCTGTCTCAAAAAAAAAAAACAAAAAAAAACTGGCCAGGAAAACTGCAAACCATCTGCAAGCTTGTATAACAAAATAGTCAGATAAACTAGAAACACAACCAGGCAGAAGCTATATCAACAAAGCTGTACTGTATGCAGTCTTATATGGCCATGACTTTGTTATAATTACCCAGTGCTATGACATTGGTCTCAAGTGTCATGGAAGCCTCTGCCTTTGATTCACCCCCTCCTCTACATAGGGCTGATTTTCAGGACCCTTGAGATCCCTCTCAATTTTCTCTATTTAATCACAGTATCATCAGTCATGACCTATGCAACTAATGATAATTCCTGGAAGATAAAGTCATCATTCATAACCTAATGATAACTAAACTTGTACTGATTACTTCAATAAGCATTTACCTAAAGCAGTCGGTAGACCAGGCTTTAGCATCATGTAGACCTAGATTGGAATATCACATCTATCACTCACTAGCTTTAACCTCCCCAGCTATCATTCTCTCCACCTTGTGACAGGGATTATAATAGTACCTACTTCACAGGGTTGTTGAGAGGATTCGCTGTGATGAGGCATGTAAAGTATTACTCTAGTTCCAGGCATACAGTAGAATATATCAGCTATGCTTATTATCAGTACCAGTACTTATTATCAGCACCAGAACCAGTACCAGGGTTCAATACATGTAGTGTACAAATGCTGTTTATTCTTTTTTAAAAACTAAGTATAATCAAAAGTTTCGGGCCATTGATCATGCACACTAGCAAAAGTGTGGACTTGAAGTTTCTTTCACATTCATCGTAGGCTAGACACTATGCTAGGTCCTGGGGAGAACACGATGAACATGACAGGCACGCTCGCTTTCTCTCCACAAAGTTCTGAACTCGCTGAAAAATGTTCATCTCTGATTTTTATTACTTAGTAATTCAGGTGGCCTCAGAACGATGGTCCCCACCCAGAAAATAAAAGTAGTTCTGGGGACTGGGAATGGAGTGATGAGGGGCAGCTCTGGAGCTGCTGCCGAAGGAGTTTACCCTGCTCACTTGGGTGGGACCCCGAGGGTCAAGGGTTTTCAACTCCTGGACTCCAGGGAGTAAGCCGAATCCTTTCAGGGTCAGCACCAGGCCCCAAGTTCAATACTGCCCCAAGGGCCAAGACCTCCCACACTGGGTGAGGACCGCCACTGGGTTTCTTCAAGTGCCCCTGCCTATTTCACCTCCTCAGATGCTGAACGCAATCATGAGGTTGTGACAGCAACTGAGGGTGGGGCGCTGGCTGGAGCCACTCACCAGAGGAAAGTCGTCCGGGTCGATCCACAGGATGCTCAGATCGGGGTTGTCAGTATTGTCCCGGGCAACCTGTTTCAGGATCTCCAGGAATTCGTAGCCATCTGAAACAGGATTCAAGAGAGTTGAGTAACCCCTGCACATACACAGCTTCTAATGTGGAGAGCAGAGTGTGATTTTTCCACGAGGACTTCTTAGGACATTTGGTGCTCACCCTCAATTATAGGATTATTCTATAGAATGAGTCAGATGAGAGCTCCAGGCACAGAGCAGATTATACAAAGGAAACAATAAAAAATTTGAACAAAGGATTAAAAGTTCACAGAGAACTGGCTGGTTTTTCACTGGAAGCCAAACTTCATTTGTGAAAACTGCCCAGCCTTGGGTCAGAAAGTCAGTCACGGAACAGAGAAATTCCTGCCTGTCCTTACTGATCCTGTGCGATCTCTTGAAACAGATGCTTTGCTGTCCCCTAGAGTCCCCAATAACATTTGCTCTAAGGACCAAGAATGTCTAAGCCTGGACCCTTAGTTTTCTACAACCAGGAATTGCTAAAACCTTCAAACCAAACGAGCTTCTGATTTACAGTTGGTTTCACAGCTCTGAGATAGTAAATGGGGCTTCCCTCCCTCCCTCCCTCCCTATTTCCTTGTATACTGGGCCCTCCCTCTGTTCAGTCAGCAGCAGTCATTGCCCCAGGGGTGGGATGATTCCTAAGAAAAGCAGAGAGGAGCTTTATAAGCTTCAAGAACACAAACTTGTTAGCTTTAAAAGCCTAAACCTTGAAGGACTAGGAGCATACAATTTTTGCCATAAACAAAAATTTTAGGAGAACGTTTAGTAAGAGATAGCATACTCTCAACCCTCAGCACCACTCCCCAGCCCCCAGCTAGAAACAGAAAAAATAGTTTAGATTCTGGAAGGTCCCTGAGAATAATAAACTGTGCCTGTGTGTGTGTGCGTGCGTGTGTGTATGTGTGTGCGTGCGTGTGTGTATGTGTGTGTGCGTGTGTGTGTGCACGCGTGCATGTGCAGAAACACAAGCCATGTGTGCATGTGTGTCCACGTACAGAATCTCCATTGTTTCAGGGAATCCCAGAGTATAGAAGACCCATGATTTGTTTCAGAATTAAACTCAGGCAAATGAAAAGATCCCAGAATCCCTTAGAGAACCCCCTAGTATAGGAGCACTAGGGCAGAAAAGCCTGTCAGAAGGCCCCATGGAGTTGTCTTGTCATTCTGAGGAACTTGAACAGGTAACGATGACCCATACCAGATGTGCACCCCACTCAGATATGCCTGGGAACCAGAGAGACCCTGGATCCCTTGGGATAGTGGGGTTGGGGTGGAGGACCTTAATTATCAGCCCCAGCTTCCACCACTCAGTGGTATACACTCAAAATTGAAATTTAGGTTCAGTTCTAAATAATAAAGTTACATTTCTTGCATAGCTGAATTTGTGGCTTGAAATTTATACGTTGAATACAAGTAACTCACCAGCTACTTGGGAATTCAATTAACTGTGCTTTCTTTGCACAGTTTTTCTTCTTTTGTCTGGAGTCTCAGCAAACTTGAGCTCCTCCCTATGGCCTCTGTTTAGCAAACCTCTCCTCTCTCCAGGAATGCTAGCTTTTGTTTGGCTCTTTTGGACTCTTGGTAAAAGTTTTTTTCTACACTTCTTTATCTCTAATGCATTCCAGGCAAAACGCATACTATTCTTAGCAACTCTACTTTGAGTTTTTGAGTTGGTGTAGTCACTGTTGCTAGCTCACACTGAAGATTCAGGCTGAGCCCCCTTAGGCCTTATTACCTGGGAAGCACAGCGACCTCTAGTGGAGAAATAGTTCCTTTTTTTTTTTTTGTCTGTTGCCCAGGCTGGAGTGCGTGGTGGGATCATAGCTCACAGCAGCCTCGACCTCCCAGGCTCCAGTGATCCTCCTGTGTCAGCCTCACAAGTAGCTAAAACTACAGGTGTGTGCCACTATGCCCAGCTAGTCTTTTAAATTTTATTGTTTTATTTTGTGCAGACAGGGGTCTCACATTGTTGCCCAGGTTGGTTTTGAA	ACTTCAAATAAGCATTAAATAAAAGATGACACAGCATAAATTATGGAAACATGTGTCTGCAGCTGTAAGAGAGAAAATTATAGAGGTGGTCTAATGTTGCTTTCCAAATTACTTGTGGCTGTTTTATAGTTTATAGAGCCATTTCCCTCCACCTCTTTTTAATGTCCCAGTTTTAAAAATACCTTATCTTGTGCTACATGAGATAGCTGGGAAAGCCATGATGGGTCATAAGTTGCCAAGTAAGAAGAAGGCTTCTTCATTCAACCAGGCTTGGACTCCATGTGGACAAATCTCTGACTGGGGCAAAAATAAAGGAGCAAGGGGCCACAGGATTTTTTTTTTTAATGGAGATGTCCAGTGGTAGGAAATCTCCCACGCAAATATATGGCCTAGTGGGGACTAGGGATATTCAGGAATCTGGAAATCAGAATAGTCTGAAGATTTCTTCTTTGCAAAAACCAAGGCAAACACATAGAACTGGCCAGAAGAGAGTCTGGGCATGGTGGCTCATGCTTGTAGTCCCAGCACTTTGGGACTGGAGTCCAGGAGTTTGAAACCAGCCTGAGCAACATAGTAAGACCTTGTCTCTACAAGAAATTTTAAAAATTAGCTGGGCGTGGTGGCACATTTCTATAGTCCCAACTGCTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGCCTGGGAGCTTAAGGCTGCAGTAAATTGAGATTATGCCACTGCACTCCAGCCTGGGTGACACAGTGAGACCCTGTCTCAAAAAAAAAAAACAAAAAAAAACTGGCCAGGAAAACTGCAAACCATCTGCAAGCTTGTATAACAAAATAGTCAGATAAACTAGAAACACAACCAGGCAGAAGCTATATCAACAAAGCTGTACTGTATGCAGTCTTATATGGCCATGACTTTGTTATAATTACCCAGTGCTATGACATTGGTCTCAAGTGTCATGGAAGCCTCTGCCTTTGATTCACCCCCTCCTCTACATAGGGCTGATTTTCAGGACCCTTGAGATCCCTCTCAATTTTCTCTATTTAATCACAGTATCATCAGTCATGACCTATGCAACTAATGATAATTCCTGGAAGATAAAGTCATCATTCATAACCTAATGATAACTAAACTTGTACTGATTACTTCAATAAGCATTTACCTAAAGCAGTCGGTAGACCAGGCTTTAGCATCATGTAGACCTAGATTGGAATATCACATCTATCACTCACTAGCTTTAACCTCCCCAGCTATCATTCTCTCCACCTTGTGACAGGGATTATAATAGTACCTACTTCACAGGGTTGTTGAGAGGATTCGCTGTGATGAGGCATGTAAAGTATTACTCTAGTTCCAGGCATACAGTAGAATATATCAGCTATGCTTATTATCAGTACCAGTACTTATTATCAGCACCAGAACCAGTACCAGGGTTCAATACATGTAGTGTACAAATGCTGTTTATTCTTTTTTAAAAACTAAGTATAATCAAAAGTTTCGGGCCATTGATCATGCACACTAGCAAAAGTGTGGACTTGAAGTTTCTTTCACATTCATCGTAGGCTAGACACTATGCTAGGTCCTGGGGAGAACACGATGAACATGACAGGCACGCTCGCTTTCTCTCCACAAAGTTCTGAACTCGCTGAAAAATGTTCATCTCTGATTTTTATTACTTAGTAATTCAGGTGGCCTCAGAACGATGGTCCCCACCCAGAAAATAAAAGTAGTTCTGGGGACTGGGAATGGAGTGATGAGGGGCAGCTCTGGAGCTGCTGCCGAAGGAGTTTACCCTGCTCACTTGGGTGGGACCCCGAGGGTCAAGGGTTTTCAACTCCTGGACTCCAGGGAGTAAGCCGAATCCTTTCAGGGTCAGCACCAGGCCCCAAGTTCAATACTGCCCCAAGGGCCAAGACCTCCCACACTGGGTGAGGACCGCCACTGGGTTTCTTCAAGTGCCCCTGCCTATTTCACCTCCTCAGATGCTGAACGCAATCATGAGGTTGTGACAGCAACTGAGGGTGGGGCGCTGGCTGGAGCCACTCACCAGAGGAAAGTCGTCGGGTCGATCCACAGGATGCTCAGATCGGGGTTGTCAGTATTGTCCCGGGCAACCTGTTTCAGGATCTCCAGGAATTCGTAGCCATCTGAAACAGGATTCAAGAGAGTTGAGTAACCCCTGCACATACACAGCTTCTAATGTGGAGAGCAGAGTGTGATTTTTCCACGAGGACTTCTTAGGACATTTGGTGCTCACCCTCAATTATAGGATTATTCTATAGAATGAGTCAGATGAGAGCTCCAGGCACAGAGCAGATTATACAAAGGAAACAATAAAAAATTTGAACAAAGGATTAAAAGTTCACAGAGAACTGGCTGGTTTTTCACTGGAAGCCAAACTTCATTTGTGAAAACTGCCCAGCCTTGGGTCAGAAAGTCAGTCACGGAACAGAGAAATTCCTGCCTGTCCTTACTGATCCTGTGCGATCTCTTGAAACAGATGCTTTGCTGTCCCCTAGAGTCCCCAATAACATTTGCTCTAAGGACCAAGAATGTCTAAGCCTGGACCCTTAGTTTTCTACAACCAGGAATTGCTAAAACCTTCAAACCAAACGAGCTTCTGATTTACAGTTGGTTTCACAGCTCTGAGATAGTAAATGGGGCTTCCCTCCCTCCCTCCCTCCCTATTTCCTTGTATACTGGGCCCTCCCTCTGTTCAGTCAGCAGCAGTCATTGCCCCAGGGGTGGGATGATTCCTAAGAAAAGCAGAGAGGAGCTTTATAAGCTTCAAGAACACAAACTTGTTAGCTTTAAAAGCCTAAACCTTGAAGGACTAGGAGCATACAATTTTTGCCATAAACAAAAATTTTAGGAGAACGTTTAGTAAGAGATAGCATACTCTCAACCCTCAGCACCACTCCCCAGCCCCCAGCTAGAAACAGAAAAAATAGTTTAGATTCTGGAAGGTCCCTGAGAATAATAAACTGTGCCTGTGTGTGTGTGCGTGCGTGTGTGTATGTGTGTGCGTGCGTGTGTGTATGTGTGTGTGCGTGTGTGTGTGCACGCGTGCATGTGCAGAAACACAAGCCATGTGTGCATGTGTGTCCACGTACAGAATCTCCATTGTTTCAGGGAATCCCAGAGTATAGAAGACCCATGATTTGTTTCAGAATTAAACTCAGGCAAATGAAAAGATCCCAGAATCCCTTAGAGAACCCCCTAGTATAGGAGCACTAGGGCAGAAAAGCCTGTCAGAAGGCCCCATGGAGTTGTCTTGTCATTCTGAGGAACTTGAACAGGTAACGATGACCCATACCAGATGTGCACCCCACTCAGATATGCCTGGGAACCAGAGAGACCCTGGATCCCTTGGGATAGTGGGGTTGGGGTGGAGGACCTTAATTATCAGCCCCAGCTTCCACCACTCAGTGGTATACACTCAAAATTGAAATTTAGGTTCAGTTCTAAATAATAAAGTTACATTTCTTGCATAGCTGAATTTGTGGCTTGAAATTTATACGTTGAATACAAGTAACTCACCAGCTACTTGGGAATTCAATTAACTGTGCTTTCTTTGCACAGTTTTTCTTCTTTTGTCTGGAGTCTCAGCAAACTTGAGCTCCTCCCTATGGCCTCTGTTTAGCAAACCTCTCCTCTCTCCAGGAATGCTAGCTTTTGTTTGGCTCTTTTGGACTCTTGGTAAAAGTTTTTTTCTACACTTCTTTATCTCTAATGCATTCCAGGCAAAACGCATACTATTCTTAGCAACTCTACTTTGAGTTTTTGAGTTGGTGTAGTCACTGTTGCTAGCTCACACTGAAGATTCAGGCTGAGCCCCCTTAGGCCTTATTACCTGGGAAGCACAGCGACCTCTAGTGGAGAAATAGTTCCTTTTTTTTTTTTTGTCTGTTGCCCAGGCTGGAGTGCGTGGTGGGATCATAGCTCACAGCAGCCTCGACCTCCCAGGCTCCAGTGATCCTCCTGTGTCAGCCTCACAAGTAGCTAAAACTACAGGTGTGTGCCACTATGCCCAGCTAGTCTTTTAAATTTTATTGTTTTATTTTGTGCAGACAGGGGTCTCACATTGTTGCCCAGGTTGGTTTTGAAN	pathogenic	13,571
The chromosome 1, position 115725557 genetic variant in gene CASQ2 (calsequestrin 2): benign or pathogenic? If pathogenic, indicate disease(s).	benign	TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATA	TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCAT	benign	13,586
Is the chromosome 1, position 115725557 variant in CASQ2 (calsequestrin 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?	benign	TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATA	TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATAN	benign	13,587
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 115725557, gene CASQ2 (calsequestrin 2): what disease(s) if pathogenic?	benign	TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATA	TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATANN	benign	13,588
The chromosome 1, position 115725557 genetic variant in gene CASQ2 (calsequestrin 2): benign or pathogenic? If pathogenic, indicate disease(s).	benign	TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATA	TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATANNN	benign	13,589
Variant at chromosome 1, position 115725557, gene CASQ2 (calsequestrin 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	benign	TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATA	TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATANNNN	benign	13,590
Clinical classification of chromosome 1, position 115725557, gene CASQ2 (calsequestrin 2): benign or pathogenic? Disease(s) if pathogenic?	benign	TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATA	TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATANNNNNNN	benign	13,591
A mutation at chromosome position 115725557 on chromosome 1 in gene CASQ2 (calsequestrin 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to?	benign	TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATA	TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATANNNNNNNN	benign	13,592
Classify the chromosome 1 variant at position 115732960 affecting gene CASQ2 (calsequestrin 2) as benign or pathogenic. If pathogenic, which disease(s) is associated?	pathogenic; ['Cardiovascular_phenotype', 'Catecholaminergic_polymorphic_ventricular_tachycardia_1', 'Catecholaminergic_polymorphic_ventricular_tachycardia_2']	TTTTCTCCTCTTCTGTCCTAGCACTCCCTGCTGGAAACCACTGAGGCTCTACCAGGTGCAGTCATGCCTTCTGGACTCCACCATCTCCCCTTGGACACCCCCTCCACCCCAACTGATGGATGCAAGTTCTTAAGCACCAAATGGCATCAGAGTCCTCTCAGTGCTCTCCCCTCTGTGTACCTTTGTCTCTTTAAATATTCTGAAATCCAACAAGGCTACATGAACACTGGCACTTATGACTCAGTGTCCTACAGAATTTGAATAAAGCATCTCTCTGAATTTTTAATCATAGCCTGACCTCACCTTTTTCATGGACCACAGGCATGAAGCTATACAGTTGCACTAGGAGGCACTTCTACAAACAAATACTACCCTGAGCTCAACGTTGAACCACCCCTCTAAAAACTAAGGCTTTGTTGCTGGACAAATTAATTGGCCTGCCTCTCTATTCCTTTCAGCTGGATTCTTACCCAGGAGCCTCTTTAGCCACACCTAGTCCATTAGAACCAAATGGTCCATCAGAACCATATGTCAGTAATGGATTCAGTTTCGGCTTCTCTGTTCCTCCCTTTCTCTACTAATATCCTATCCAATCCTCCCACTTCCTGGGCCTAGATGATTGCTTTCTTATGAACAATGGTGCTCATAGCTGGCTAACTATTACTGAATGCTTCCTGTGTGCCAAAAACCAGCTAGGCAGTTTGCATATATTGCTTCTTTCTCTGGAGTAAAGTAGGACAGAGCATTGACTTTGAAGTCAGGCTGGTCTGAGATTATAGCAAGCTTCTCAATTCAGTAACTACATGATCATGAAAAAATCACTTAATCTTTCAGCACCTCAGTTTCATCCTCTGTAGAATGAGGATACTAATTCCTCCCTTATGGGAGTGTTGAAAGGATGAAGTGAGAAAATCCATGTTAACTTCTTAGCACACACTCTGGCACAAAGAGACTTCTTAGCACAGACTCTGGCACATAAAAATTTTTTTGAATTTATTATTTTTTATATTTTTATTTTTTGAGAGAGGATCTCACTCCATTGCCCAGGTTGGAGTACAATGGTATGATCACAGCTCACTGCAGCTTCAACCTCCTGGGCTCAAGTGATCCTCCCACCTCAAGCCTCCCAAGTAGTTCGGACTACAAGTGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTCCAACTCCAAGGCTCATGCAATCCACCCCCGTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACAGCACCTGGCCCATAATAGACACTTAATACATGATAGCTTTTTTGATTATTCTTGCTCAAGATCCCTCCCAACTGTAATACAACTAATTAGGATAAACATTCTTCAAGTTTAGATTATGTTACTTGGATTATAGAGCACTCTTCTGGATCATAGGCTTGAAGACTGGGCCATGTCTACAGAAGTGGTTCATCATATACATGAACTGAATGCAATCTCATCCCACCACGTCCCTTCCCTGCTTCAGCTCACTGACTTCCTCTTGTTTTTCGCAGAACACTTGCTTGAACTAATCACAGAGGAGTTCCCATTCTACTTCCCATCCTGACGCAGTAGAAGGGGAAGTATGCAACCCCAGGAAGGGAGAGGATACCCCCTAAGGAAAAAGGAAGCAGTGGCTCAGTGGGCTGGCACACTCTGGGCCCACACGTTTCCCATCTCAGTGTATAAGAAGATAATGGTGGGTCATCACTTTTCCTTGGATGTTTTCATAAATATCCTTACATCCTCTGACTTAGTCATCTTTGTACTCATCTTAAATCCAATAGTGATTTAGTGATATAATTCTTAACCCTTCTAGAGAAAGAGGCAAGGGAGGATGGTTAATGTTGCTAAAAGAAAAGAAAGAGTGGTGAGAGTTCAAACTTTAATTCTTCATGCCTACAAAACTGTTCAAATTGGGGTTTCATAGGTACTTACCCCTTTGTCAAAGGTGGCAAAGAATTTGATGTAAGGCTGGAAGTGTTCAGCTGCTTCTTCAAAAGCCTTGTAGTCTAAGGGGAAAAATAAAGATGAAGGGAGAGACATTTTCAAGATGAACACAGAAGAATCTTCTTTTTAAATGGTGTAGAGAGTAGAAAGCCAATTAATCCTGATTGGATAATAATTTAGTAGGTATTGTTTACATAGATGTTATTTAATATTATTTAAGCCCATAGTTCCCCCCAAGGAGTTGGAATTGACTGGCATTCAAACGCCCAAGAGAAGACCCATTCACCACACTTTTATGAACTGCAGGTAGAAAGCACGAAACAGAGGGAACCGGGAGGAAAAGAGAGAGAAAAAGACGCGTAAAACTCCAAACCAAAATAAAAAGACCTTTCATTCTAACTCACTGCTACTTATAATCATGCCCTCTAGAGAGAGTGCAGTTTGCCAGAATAAATGAGCCCTAAGTAAGAAGGAAATTCGTCTCACAGTGTAAAGTAACCTCAATCACAATTGACATCACAGAAGTATTTTAAACTTCTTCATGGAAGTACTCCTGTTGCTGAATTCTAGTTTTCTTTCCCTTTTTTTCATTTTAAAGTTTTCTTTTTTATTCTGATGCCTCAAGAGGATTTCTTAAACTTAATCAAGCTCTTGATTGACTATGGTCTCAAACTTGAGTCCATACTGGCCGAGGCAGTATGAGATCAGGTGAGTGTGGGAGTGCTGTACCTTGGTACACCTGGGGAGTTACTTGGGAAAGAGATTTGTCCTCAAACCTTAGTTGTGAGGGTGATGGTAATTGTGGTGGTGGTGGTGGTGGTTATGAATAAATGCTATAAGCCTGAGAGTCAATGAGCCTGTGATTTATTCTTAACAAGATTAGCTTCTTTCCATTTCATGGAATTCCATTTCCCTTAACCGTGTGAAGTATAAGCCTTTGTTAGAATTCTGGGACCATGCAGAATTTACTAAGATTCTATCAAAATTTTTTTAGAACAATGTTAATCCAGAGGATACCAAAATGAATAAGACAAAGATACTGATCTTCAAAAGCTCTCAGCCTAGAGAGAGCTATTGATCCTTAAAGAATCAAAATGCAGCATGATAGTTGTTACAACAGAGGTGAGTGCCGCAAGCACAGGTGAGAGAGGGGTTGGAAAGTCATGAGAATACTTGCACATACTGATACACACTCACACTAACTTGTCCTCATAAAAGTAAGCAGGTAGTCAGAAAAGATATCCTGTAACATCATAGCTGGGGTCGAGAATTGGGTGGAGGGGAGAAGTTGGCTGAGAGCATTTGAAGAATGAATGGAGTGAAAGTAAGGAAGTAGAATGGCTAAAGCAACACCTAAGCCATCTGTGTCTAAAGCAGCAGTGGGCTCTATCAGAATCCTCTATCCCCCTCTTTTCCAATCCCCATGTCCCTGATGAATTTCTCTTCCCCTCCATGAACTCCCACCCTGTTGGAAAGAATGGCTTAGGCCTGTGTCAGGAGCTTCCCTTCCTCTCTTGGAGAGCTGGTCTACATCACTTTAAGATGAAGAATGGAGCAAGGTGACCTCCAGATGGGTGATTCAAAATGTGGCTTGACCTTTAGCCTCAGCCAAACAGCAGTTGTTTTCCAAGAAGCCTCCTCTTGTCTTCTGCTCTGTTGGAGCTCAGGTCATCTCTAGGCTTTCCCTGCCTCCTGACCAGCCTGTTCCTGGTCCCTTCCAGTCAGACCCCTTTCCCACTTTCTTTGATGACTCTTTTGGCTTCTGGAATAGGCTCCTGAACATTGAGTTCCCAGCCTCCAGCTTACTAAAAACTTATCTTAGCATTTTCTCTCCTTTCTTCCCCCTCTCTCAGGGTTGTGCGTACTGGATATTAGTATCACAGACGTTAGTAACTGGGTGTGGTTGATGGCACCAGTTAGAAACCCTGACCAGAAATGCTTGGAATAATATCATCTGTCTTACAAAGAAGAACCAAACCAATTTGTTGGGGATGAAACATTCAAAGAAGTAAATAAACATGTCAAAATAGATTCTGAAAGCACTGCACAAAATAAGTGTACACAATTAAATGTATAAACTTTATAGTGTATGAAT	TTTTCTCCTCTTCTGTCCTAGCACTCCCTGCTGGAAACCACTGAGGCTCTACCAGGTGCAGTCATGCCTTCTGGACTCCACCATCTCCCCTTGGACACCCCCTCCACCCCAACTGATGGATGCAAGTTCTTAAGCACCAAATGGCATCAGAGTCCTCTCAGTGCTCTCCCCTCTGTGTACCTTTGTCTCTTTAAATATTCTGAAATCCAACAAGGCTACATGAACACTGGCACTTATGACTCAGTGTCCTACAGAATTTGAATAAAGCATCTCTCTGAATTTTTAATCATAGCCTGACCTCACCTTTTTCATGGACCACAGGCATGAAGCTATACAGTTGCACTAGGAGGCACTTCTACAAACAAATACTACCCTGAGCTCAACGTTGAACCACCCCTCTAAAAACTAAGGCTTTGTTGCTGGACAAATTAATTGGCCTGCCTCTCTATTCCTTTCAGCTGGATTCTTACCCAGGAGCCTCTTTAGCCACACCTAGTCCATTAGAACCAAATGGTCCATCAGAACCATATGTCAGTAATGGATTCAGTTTCGGCTTCTCTGTTCCTCCCTTTCTCTACTAATATCCTATCCAATCCTCCCACTTCCTGGGCCTAGATGATTGCTTTCTTATGAACAATGGTGCTCATAGCTGGCTAACTATTACTGAATGCTTCCTGTGTGCCAAAAACCAGCTAGGCAGTTTGCATATATTGCTTCTTTCTCTGGAGTAAAGTAGGACAGAGCATTGACTTTGAAGTCAGGCTGGTCTGAGATTATAGCAAGCTTCTCAATTCAGTAACTACATGATCATGAAAAAATCACTTAATCTTTCAGCACCTCAGTTTCATCCTCTGTAGAATGAGGATACTAATTCCTCCCTTATGGGAGTGTTGAAAGGATGAAGTGAGAAAATCCATGTTAACTTCTTAGCACACACTCTGGCACAAAGAGACTTCTTAGCACAGACTCTGGCACATAAAAATTTTTTTGAATTTATTATTTTTTATATTTTTATTTTTTGAGAGAGGATCTCACTCCATTGCCCAGGTTGGAGTACAATGGTATGATCACAGCTCACTGCAGCTTCAACCTCCTGGGCTCAAGTGATCCTCCCACCTCAAGCCTCCCAAGTAGTTCGGACTACAAGTGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTCCAACTCCAAGGCTCATGCAATCCACCCCCGTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACAGCACCTGGCCCATAATAGACACTTAATACATGATAGCTTTTTTGATTATTCTTGCTCAAGATCCCTCCCAACTGTAATACAACTAATTAGGATAAACATTCTTCAAGTTTAGATTATGTTACTTGGATTATAGAGCACTCTTCTGGATCATAGGCTTGAAGACTGGGCCATGTCTACAGAAGTGGTTCATCATATACATGAACTGAATGCAATCTCATCCCACCACGTCCCTTCCCTGCTTCAGCTCACTGACTTCCTCTTGTTTTTCGCAGAACACTTGCTTGAACTAATCACAGAGGAGTTCCCATTCTACTTCCCATCCTGACGCAGTAGAAGGGGAAGTATGCAACCCCAGGAAGGGAGAGGATACCCCCTAAGGAAAAAGGAAGCAGTGGCTCAGTGGGCTGGCACACTCTGGGCCCACACGTTTCCCATCTCAGTGTATAAGAAGATAATGGTGGGTCATCACTTTTCCTTGGATGTTTTCATAAATATCCTTACATCCTCTGACTTAGTCATCTTTGTACTCATCTTAAATCCAATAGTGATTTAGTGATATAATTCTTAACCCTTCTAGAGAAAGAGGCAAGGGAGGATGGTTAATGTTGCTAAAAGAAAAGAAAGAGTGGTGAGAGTTCAAACTTTAATTCTTCATGCCTACAAAACTGTTCAAATTGGGGTTTCATAGGTACTTACCCCTTTGTCAAAGGTGGCAAAGAATTTGATGTAAGGCTGGAAGTGTTCAGCTGCTTCTTCAAAGCCTTGTAGTCTAAGGGGAAAAATAAAGATGAAGGGAGAGACATTTTCAAGATGAACACAGAAGAATCTTCTTTTTAAATGGTGTAGAGAGTAGAAAGCCAATTAATCCTGATTGGATAATAATTTAGTAGGTATTGTTTACATAGATGTTATTTAATATTATTTAAGCCCATAGTTCCCCCCAAGGAGTTGGAATTGACTGGCATTCAAACGCCCAAGAGAAGACCCATTCACCACACTTTTATGAACTGCAGGTAGAAAGCACGAAACAGAGGGAACCGGGAGGAAAAGAGAGAGAAAAAGACGCGTAAAACTCCAAACCAAAATAAAAAGACCTTTCATTCTAACTCACTGCTACTTATAATCATGCCCTCTAGAGAGAGTGCAGTTTGCCAGAATAAATGAGCCCTAAGTAAGAAGGAAATTCGTCTCACAGTGTAAAGTAACCTCAATCACAATTGACATCACAGAAGTATTTTAAACTTCTTCATGGAAGTACTCCTGTTGCTGAATTCTAGTTTTCTTTCCCTTTTTTTCATTTTAAAGTTTTCTTTTTTATTCTGATGCCTCAAGAGGATTTCTTAAACTTAATCAAGCTCTTGATTGACTATGGTCTCAAACTTGAGTCCATACTGGCCGAGGCAGTATGAGATCAGGTGAGTGTGGGAGTGCTGTACCTTGGTACACCTGGGGAGTTACTTGGGAAAGAGATTTGTCCTCAAACCTTAGTTGTGAGGGTGATGGTAATTGTGGTGGTGGTGGTGGTGGTTATGAATAAATGCTATAAGCCTGAGAGTCAATGAGCCTGTGATTTATTCTTAACAAGATTAGCTTCTTTCCATTTCATGGAATTCCATTTCCCTTAACCGTGTGAAGTATAAGCCTTTGTTAGAATTCTGGGACCATGCAGAATTTACTAAGATTCTATCAAAATTTTTTTAGAACAATGTTAATCCAGAGGATACCAAAATGAATAAGACAAAGATACTGATCTTCAAAAGCTCTCAGCCTAGAGAGAGCTATTGATCCTTAAAGAATCAAAATGCAGCATGATAGTTGTTACAACAGAGGTGAGTGCCGCAAGCACAGGTGAGAGAGGGGTTGGAAAGTCATGAGAATACTTGCACATACTGATACACACTCACACTAACTTGTCCTCATAAAAGTAAGCAGGTAGTCAGAAAAGATATCCTGTAACATCATAGCTGGGGTCGAGAATTGGGTGGAGGGGAGAAGTTGGCTGAGAGCATTTGAAGAATGAATGGAGTGAAAGTAAGGAAGTAGAATGGCTAAAGCAACACCTAAGCCATCTGTGTCTAAAGCAGCAGTGGGCTCTATCAGAATCCTCTATCCCCCTCTTTTCCAATCCCCATGTCCCTGATGAATTTCTCTTCCCCTCCATGAACTCCCACCCTGTTGGAAAGAATGGCTTAGGCCTGTGTCAGGAGCTTCCCTTCCTCTCTTGGAGAGCTGGTCTACATCACTTTAAGATGAAGAATGGAGCAAGGTGACCTCCAGATGGGTGATTCAAAATGTGGCTTGACCTTTAGCCTCAGCCAAACAGCAGTTGTTTTCCAAGAAGCCTCCTCTTGTCTTCTGCTCTGTTGGAGCTCAGGTCATCTCTAGGCTTTCCCTGCCTCCTGACCAGCCTGTTCCTGGTCCCTTCCAGTCAGACCCCTTTCCCACTTTCTTTGATGACTCTTTTGGCTTCTGGAATAGGCTCCTGAACATTGAGTTCCCAGCCTCCAGCTTACTAAAAACTTATCTTAGCATTTTCTCTCCTTTCTTCCCCCTCTCTCAGGGTTGTGCGTACTGGATATTAGTATCACAGACGTTAGTAACTGGGTGTGGTTGATGGCACCAGTTAGAAACCCTGACCAGAAATGCTTGGAATAATATCATCTGTCTTACAAAGAAGAACCAAACCAATTTGTTGGGGATGAAACATTCAAAGAAGTAAATAAACATGTCAAAATAGATTCTGAAAGCACTGCACAAAATAAGTGTACACAATTAAATGTATAAACTTTATAGTGTATGAATN	pathogenic	13,609
Gene CASQ2 (calsequestrin 2) variant at chromosome position 115740793 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Catecholaminergic_polymorphic_ventricular_tachycardia_1', 'Catecholaminergic_polymorphic_ventricular_tachycardia_2']	TTTAGTGATTTTGAAATATGTAATACATATTATTCACTATATTCACCATGCTGTACAATATATCTCAAAGAACAAAATCTTATTTCTCCTGTCTAATTGAGGCTTTGCACCCTTTGATCATTATCTCTCCATTCCCACCACCCCCACCCCATCCTGCTTTTGGCAACTACTCTCTGCTTCTCTGAGTTCTCGTGTTCTAGATTCCACATATAATAAGTGAGAACATGTTGTATTAGTCTTTCTGTGCCTAGCTTATTTCACTTAACATAATGTTCTCCAATTCCATCTGTATAGTTGCAAATGATAGTTTTCTTTTTTTAAAAAAAAAAAAAGCTGAATAGTATTCCCTTGTGTATGTATAGCACATTTTCTTTTCTTTCTTTTTGAGATGGAGTCATGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTAGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGACTACGCCCACCACCATGCCCAGCTAAGTTTTTTTATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCAGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCTCCGCCATGTACCACATTTTTTTTAATCCAGTCATCTGCTGATGGACATTTAGGTGGATTTCATAACTTCCCCTGCCAGTTATTGATTCAGGAATGGGCAAGTAACTGGCCCAATAAGGACAGATTTGCTGAAGGCTTTGGGAAAAGTTCTTTACTCTTAAAAGGGCAATGGGAAGCCAAATTTGTTTTTCTGTCATGAAATATGAATGAGGAAATGCAATGTATTTGTTCCTACTGCTGGCCATCTTATAGCTAACTTGAGAATAGTCAGCTTGAGGACACAAGCAACATACTGAAAACACAGTTATCTGTGATTTACAGAGAAAAATGGAGGCAGTGTCTGGATTCGATCAAGTCTAAAGTCTCCTCTAACTAGAGCCTTCTACTTAGGTAAGTCAATCACATTGTTTATTGTTTGAAGCAGTTAGTCTTATTTCCAAAAGCCTCCCCCTAGCTGATAAAGCTGGGGCAGCACCATGCTGTCCCAGAGTTGTTCTGTCACCCCTCTCAACTTTTTTAGGGCATGTGGGTGTGAGTCAATGAGATGGCCAAGCACAGTGCGTCATGAGATGGCACTTTTTTTGGTAAATGTAGCTTCCAACTCACTTCTGACCTTCCCTCTGGTTTTTGACACTGTAGAGAAAGAATGATAGACCACTGGGTACTGGCTGGTAGATAAAGAATCATCGGCATGGATGCTCAACACTAGGTTCTTTATCTGTGCAAGAATATGTGTTCAAAGCATTGAACTTCACAGCGGTTACTGCAAGTGTGAGTTTATCTATGGATGAAATATTTTTATAATGTTTGTTCCTATGTTTGTCTAAGCATATGGATATGAGGCTGTGCTATGTCCATGGCTGAAAAAGTGTGATACTGGGGGGCTGTTTAGCTCTGTCACTTCTCTATGTTGCTCTGAGGGTGGCTAACTCAGGGTGACCTGGCTGATTGGTACTCCCATCCCTCCTCTCTCTTCAGGTGGCTGGTTAGCCCCCTCACTCCCCACATTCCCCAGCTCCTCTTCAGTAGCAGTGGAGCAAAACCAAGGAGATTTCAATAGACGTCTATGTATAACTGGTAACAGAATTAGCATATTACTACTACATGGCCCCCAACAGTTTCTAGGGTGGCTTAAAGATCACTTTCCCAGTAGAGTAGACAGTGCAATAATATAGGTGCTCCTTAGTTTTTTGTGAATCCTGAAAAACCTGTCACAGATGAGGCCAGGTTCTCCAGCTTGTCCTTTCTTTGGGGTTCTATCTCTCCCTATATTTGAGGAGAGGCAGCTCCATGCAGGGTCACTGTGTATAAATACTTACATCCAAGAGGAACTCCACCAAGACATCAGCTGCAAACTCGCCATCAAACTCTATTGTGCGATCACCCTTAAGAATATACAGGCTTCCTTCTTCATCAAAACCTGTAAGAAACAAAGAGGCCCACAGAGAAGGTCATCCTGACGTAGGAAGAGTGATTGTATTGGCTGAGGTCTGGCTGAGGGTTTCTGGGTGACAGTGGGGTCAGGATTAGTGGAACTAGCATTAACCAAAGAAGCAGTTGCCTTGAAATAACACTTTTGAAGAGCTCCTGAAGTGAACATTTAATTGGAAATAGTCCAGAACAATTCCAGCTGGATTTTGACTTAAAAGAAAAGTCTATTCTCCACTCCACCACTGCTTTAGTTTTCCAAAAATACAGCTGATCCCATGTCATTCTCTTTATCAAAGAATTGTAATGGCCACTGCCCACCTGACTCCTTAACCTTGCTTTAAAGTCCCTCCAAAATCTGTTTCCAAATCTATCCCTTTCATTCTCCCTTAGGTAGACTTGTACTCCTTTGAGAACTGCTCTCTTGTCCCCTGTGGGACTCCCTTTGCTTCCTGTCCACATGTTTATATGAAAAGGTGAGTAAAGGAAAAGTCACTGAGCATTATTCTCTAGACTTAGTTTTTCTTGTTCTCCCAGCCTGGAATGACCTCCATCTTGCTTAGCTTCTTCAGGTCTCAGCTTAGGATTCATTTTTCTTAAGAAAGGTCACTTCAATCTCACTGAACTCATGCCATTATTGATCTTTGTTCAGCTCAATTTACAGGTCTTCACTATCAAAGTGAGTTCTCTGAGGGTAGGATCATTGTCTTCTTGGTATCCCAGAGCCTTGTACAGAGGCTGTGTACATCAGCAACCCATTAATGTATGTGGCCAGGATGGACAGCTTGCTTTCCTGTTCCAGCTGAATCCCACACATCTTCTTTATCCAGTTGGCTGGTAGATGCTGCAAGGACAGGCTCAGCGTCTTCTTATTTTGCTGCCCTTTAGCACCCTTGGTCTGATGTTGTGTACCTTAACAAATGCTTGTTGGAAAAATGCATTTTCCTCCTTAGGAATGTTAAATAAACAAAGCTGGCATTTAGTCCAATTGCCTGGCATCCTTAATTCCTTAGATTGTTGTAAAAGTCTGTTAGCTGGAGAAAGTTTTCTCCAAATGAACTCTTCTGCAGAACGTCCAGGGACAGGAAAGCTGGACTGCAGCCTGCTGTGTCCCAAGGCATGCATGAGGTATAAGCAGCCTCTGGCACATGGGCGGGAAATGGTAGAGGCACCATTTGTAAATCAAAAGGAGCAATGTGCCAGGTATTCTTTTTGTTTGTTTGTTTTTTGAGACAAGGTTTTCCTTTGTCACCCAGGCTGGAGTGCAGGGCCATGATCATGGCTCCTGCCTCAGCCTCCTGAATAGCTGAGACTACAGGCATGTGCTATGATGCTGGCTAATTTTTCATATATAAGTATATATGAAAAATTATATATTTTTTATATATGAAAAATTATACTATATATGTATATTACAAGCATGAGACACCGTGTCTGGCCCTGCCAGATTTTCTTGATATCAATGATGGCCAATCTCAAAAGGTGCCCTAGGGAACATTGGCCAGTGTCCTGCTGTTGGATTTTGTCTTGAGCAAAACCGCAGTAAGAAGACTACTGCAATTGTTGAGGCACAACTTGATAGAGGCCAAAATAAGGCAAATGGAAAAGAAATGAAGATGAAGGAGCAGGTTCACAAAATACCTCCACTCTCCTATAAACCCCCAGGGATCAAATAACCGGAAGGAACCTACCCCAACTCCTCCAAACTGAGCTTGTTTCAGTGTATCAAGCGCCATCATATTCTTTGCTAGTCTATTTTTATGTATACTTGCCCAGCTTGTCCACCCAAAATTTTTAGATCACTGGGACACTAGTATTTTTCTCTAACTAAATTTGCTGGAAATTCTCCCAAATGCAACTTCTCATTAAACCAATGGGAAGGCAGAAGAAGAATCAAGAGACTGCTGGGGGAGGAGACAGAACTCATTAAACTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCTCCCAGGCTGGAG	TTTAGTGATTTTGAAATATGTAATACATATTATTCACTATATTCACCATGCTGTACAATATATCTCAAAGAACAAAATCTTATTTCTCCTGTCTAATTGAGGCTTTGCACCCTTTGATCATTATCTCTCCATTCCCACCACCCCCACCCCATCCTGCTTTTGGCAACTACTCTCTGCTTCTCTGAGTTCTCGTGTTCTAGATTCCACATATAATAAGTGAGAACATGTTGTATTAGTCTTTCTGTGCCTAGCTTATTTCACTTAACATAATGTTCTCCAATTCCATCTGTATAGTTGCAAATGATAGTTTTCTTTTTTTAAAAAAAAAAAAAGCTGAATAGTATTCCCTTGTGTATGTATAGCACATTTTCTTTTCTTTCTTTTTGAGATGGAGTCATGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTAGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGACTACGCCCACCACCATGCCCAGCTAAGTTTTTTTATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCAGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCTCCGCCATGTACCACATTTTTTTTAATCCAGTCATCTGCTGATGGACATTTAGGTGGATTTCATAACTTCCCCTGCCAGTTATTGATTCAGGAATGGGCAAGTAACTGGCCCAATAAGGACAGATTTGCTGAAGGCTTTGGGAAAAGTTCTTTACTCTTAAAAGGGCAATGGGAAGCCAAATTTGTTTTTCTGTCATGAAATATGAATGAGGAAATGCAATGTATTTGTTCCTACTGCTGGCCATCTTATAGCTAACTTGAGAATAGTCAGCTTGAGGACACAAGCAACATACTGAAAACACAGTTATCTGTGATTTACAGAGAAAAATGGAGGCAGTGTCTGGATTCGATCAAGTCTAAAGTCTCCTCTAACTAGAGCCTTCTACTTAGGTAAGTCAATCACATTGTTTATTGTTTGAAGCAGTTAGTCTTATTTCCAAAAGCCTCCCCCTAGCTGATAAAGCTGGGGCAGCACCATGCTGTCCCAGAGTTGTTCTGTCACCCCTCTCAACTTTTTTAGGGCATGTGGGTGTGAGTCAATGAGATGGCCAAGCACAGTGCGTCATGAGATGGCACTTTTTTTGGTAAATGTAGCTTCCAACTCACTTCTGACCTTCCCTCTGGTTTTTGACACTGTAGAGAAAGAATGATAGACCACTGGGTACTGGCTGGTAGATAAAGAATCATCGGCATGGATGCTCAACACTAGGTTCTTTATCTGTGCAAGAATATGTGTTCAAAGCATTGAACTTCACAGCGGTTACTGCAAGTGTGAGTTTATCTATGGATGAAATATTTTTATAATGTTTGTTCCTATGTTTGTCTAAGCATATGGATATGAGGCTGTGCTATGTCCATGGCTGAAAAAGTGTGATACTGGGGGGCTGTTTAGCTCTGTCACTTCTCTATGTTGCTCTGAGGGTGGCTAACTCAGGGTGACCTGGCTGATTGGTACTCCCATCCCTCCTCTCTCTTCAGGTGGCTGGTTAGCCCCCTCACTCCCCACATTCCCCAGCTCCTCTTCAGTAGCAGTGGAGCAAAACCAAGGAGATTTCAATAGACGTCTATGTATAACTGGTAACAGAATTAGCATATTACTACTACATGGCCCCCAACAGTTTCTAGGGTGGCTTAAAGATCACTTTCCCAGTAGAGTAGACAGTGCAATAATATAGGTGCTCCTTAGTTTTTTGTGAATCCTGAAAAACCTGTCACAGATGAGGCCAGGTTCTCCAGCTTGTCCTTTCTTTGGGGTTCTATCTCTCCCTATATTTGAGGAGAGGCAGCTCCATGCAGGGTCACTGTGTATAAATACTTACATCCAAGAGGAACTCCACCAAGACATCAGCTGCAAACTCGCCATCAAACTCTATTGTGCGATCACCCTTCCTTCTTCATCAAAACCTGTAAGAAACAAAGAGGCCCACAGAGAAGGTCATCCTGACGTAGGAAGAGTGATTGTATTGGCTGAGGTCTGGCTGAGGGTTTCTGGGTGACAGTGGGGTCAGGATTAGTGGAACTAGCATTAACCAAAGAAGCAGTTGCCTTGAAATAACACTTTTGAAGAGCTCCTGAAGTGAACATTTAATTGGAAATAGTCCAGAACAATTCCAGCTGGATTTTGACTTAAAAGAAAAGTCTATTCTCCACTCCACCACTGCTTTAGTTTTCCAAAAATACAGCTGATCCCATGTCATTCTCTTTATCAAAGAATTGTAATGGCCACTGCCCACCTGACTCCTTAACCTTGCTTTAAAGTCCCTCCAAAATCTGTTTCCAAATCTATCCCTTTCATTCTCCCTTAGGTAGACTTGTACTCCTTTGAGAACTGCTCTCTTGTCCCCTGTGGGACTCCCTTTGCTTCCTGTCCACATGTTTATATGAAAAGGTGAGTAAAGGAAAAGTCACTGAGCATTATTCTCTAGACTTAGTTTTTCTTGTTCTCCCAGCCTGGAATGACCTCCATCTTGCTTAGCTTCTTCAGGTCTCAGCTTAGGATTCATTTTTCTTAAGAAAGGTCACTTCAATCTCACTGAACTCATGCCATTATTGATCTTTGTTCAGCTCAATTTACAGGTCTTCACTATCAAAGTGAGTTCTCTGAGGGTAGGATCATTGTCTTCTTGGTATCCCAGAGCCTTGTACAGAGGCTGTGTACATCAGCAACCCATTAATGTATGTGGCCAGGATGGACAGCTTGCTTTCCTGTTCCAGCTGAATCCCACACATCTTCTTTATCCAGTTGGCTGGTAGATGCTGCAAGGACAGGCTCAGCGTCTTCTTATTTTGCTGCCCTTTAGCACCCTTGGTCTGATGTTGTGTACCTTAACAAATGCTTGTTGGAAAAATGCATTTTCCTCCTTAGGAATGTTAAATAAACAAAGCTGGCATTTAGTCCAATTGCCTGGCATCCTTAATTCCTTAGATTGTTGTAAAAGTCTGTTAGCTGGAGAAAGTTTTCTCCAAATGAACTCTTCTGCAGAACGTCCAGGGACAGGAAAGCTGGACTGCAGCCTGCTGTGTCCCAAGGCATGCATGAGGTATAAGCAGCCTCTGGCACATGGGCGGGAAATGGTAGAGGCACCATTTGTAAATCAAAAGGAGCAATGTGCCAGGTATTCTTTTTGTTTGTTTGTTTTTTGAGACAAGGTTTTCCTTTGTCACCCAGGCTGGAGTGCAGGGCCATGATCATGGCTCCTGCCTCAGCCTCCTGAATAGCTGAGACTACAGGCATGTGCTATGATGCTGGCTAATTTTTCATATATAAGTATATATGAAAAATTATATATTTTTTATATATGAAAAATTATACTATATATGTATATTACAAGCATGAGACACCGTGTCTGGCCCTGCCAGATTTTCTTGATATCAATGATGGCCAATCTCAAAAGGTGCCCTAGGGAACATTGGCCAGTGTCCTGCTGTTGGATTTTGTCTTGAGCAAAACCGCAGTAAGAAGACTACTGCAATTGTTGAGGCACAACTTGATAGAGGCCAAAATAAGGCAAATGGAAAAGAAATGAAGATGAAGGAGCAGGTTCACAAAATACCTCCACTCTCCTATAAACCCCCAGGGATCAAATAACCGGAAGGAACCTACCCCAACTCCTCCAAACTGAGCTTGTTTCAGTGTATCAAGCGCCATCATATTCTTTGCTAGTCTATTTTTATGTATACTTGCCCAGCTTGTCCACCCAAAATTTTTAGATCACTGGGACACTAGTATTTTTCTCTAACTAAATTTGCTGGAAATTCTCCCAAATGCAACTTCTCATTAAACCAATGGGAAGGCAGAAGAAGAATCAAGAGACTGCTGGGGGAGGAGACAGAACTCATTAAACTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCTCCCAGGCTGGAGNNNNNNNNNNNNNNNN	pathogenic	13,624
Regarding the variant at chromosome 1 and position 115768328, affecting gene CASQ2 (calsequestrin 2): benign or pathogenic? If pathogenic, what are the associated illness(es)?	pathogenic; ['Catecholaminergic_polymorphic_ventricular_tachycardia_1', 'Catecholaminergic_polymorphic_ventricular_tachycardia_2']	TGTTACGTACAACTGCCTTCATCTGTAGTAGCTGTGTGACCTTGGACAACTTAGCCTCTCTGCTTCAGTTTCCACATCTATAAAATGGAATTGGTAACTGTACCTACTTAATAGAATTATTGTAAGGATTAAACAAGCTAACACATACCAAGTGCTTAGAACAGTCCCTGCACTTAGTAAGCATTTAATCAACATTATTATTATTTAATCATTTCTTAAGCTGCATGATAGTTACTATTTTTCCATATTTATAGATAAGAAAATGAAGCTCTGAGAAATTACGTAATTTGCCCTGTGTCCTGTGCCTAGTAGAGACAAAGCCAGAACTTAAATCCAGATATCCTGACTTCAAGGTCTGTGTTCTTTTTCTCCTAATGATGCCTCACTCCAGCTTTAGCAGCCTGAGGGGCATCAAATTAACTCCTGTGGTGAACTTTTCCTTATCGGTCTCTGCTGGGCCGGCACCCACTGTGAAAAGGGCACTCTTGGATCAAAGGTGTCTGGAGGGATGGTAAGCCCAGGGGAAGTTTCTGTTCATGATTTTGCATAGTCTTTGGGGACAGATATACTTGGGGGAGCTAGAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAGGATGATAGAAAGATATTTCTTTTTTAAAAAAAATTAGAATCAGAAATGAATGTCCTTGCCTGTACTGGCCACCCAAAGGCATTCTTTTGGAGTTCTAGGCTAACTGGACAGCGATGAGCATATAGGGGAGAATCCTTATGCCTTCAATTAAGTTTTCATAACAATGTCTCTTGATAACTGAGTATGGCAGTTTGAGATGGAGATATAATGTAAGTGTTGGTTTCATGTGCTAAGCAGCAGCTAAGTTCTATGTCTCGTTCTTTTCCAGCCTGTGATTTGCTCATTTCTATAAAATAAAGTCTTAATAACTATCCCTGCTTTCTCTTTTCTTGCAACCCACAGAGAGAACTGAAATTCCACATTCAGCACCCAAGGTTGGAGATATACTTTTGATGTATTTGGGATAGTTTTGCTGGATTTTATTACAGTCAATTTTTCAATTTGAAAAAATTCAAATCCACATGGGTTTTATATGATAATCCTATTAAACTATTTCATCAACCTGAGTTCTCTGATTGTGCTGGTTAATAAACTGTAATTCTCAAATATCCCTTTCACAGGTTTGCGCCTGGGCTAGGCGTGGAGACTGATGAGGCATCTTGGTGCCCACTAGCATTCTTGGCACCCTCAGGCCCTCTTAAAGTGTAAGCCATCTTAAGCTGTCCAGGAGGAGCTGCAGGAATAGTTTCTGGGGCACTCGCAAAGGATTAGAAAATGGGCCCCAGTGCCAGGTTACAAACAGGCAGGCCATGTAATGCGGATAAAATAAGAACTGACTTCAGCTCTGCCCTAAAGTCACACCAAGAACTTTCTGAGAAAAAAAATCACATAAATGAATATGCTGCTCAGAAGATCTGCACACAACTACATTCTGTAATGCTGACTGACGCAAAACAAGAGAGAGGAAAGTCATTTAGTGATATTCTCCGTCTGACCCCCAGAGAGACGCAAGGTCAAGTAACTCTGGTCTCTCCAGGATCATGGGGAGATTTGAGGGAGCAAAGTGGGCACACTGAATGAAATCCACAAGTAGTCCCTGGATTTCATTTCAGCCAACAGTTTTAACAATAGTTTCTACATTCTATCTGGGAAACAATGGCTGGGACAAGGGCCCTTGAAAAGTCAAGGGGGCCATAAAGACTTTACATCAGACCCATCGTAGTGTAGCACGTTTGGTCCTCTTCATTTGAAGAGTTAGGACCCACCCCTCATTGTTCACACATCCCAGCTGTGTGACAAGGGCATCTGATTCACGTGAGGCCAAAATAAAGCAGAGTTCAGTATATATTCTCTGCATCCTCGTTCCCATATCCCAACCCCTGGCCAAAGGCATTCCCTCGGCACCTCACTGAGGCAGCGCAGACAGCATGCCCTTTGGTTACTTACCTCAAGCACGATTTCTTTCAGTTGGAACTGTTTTTGCGTGACCTTATCTGAAGACACCGGCTCATGGTAGTAGAGGCAAAGCAAGTCATATTTCTTTAAAACCTGCTTGAAGTTCTTCTCGGAAAGACTTACCACTCGGTCCTTCCCATCATATGTGGGGAAATTAAGCCCCTCTTCTGCCCTGCAAGAGGACAGAAAATAAATCCCCACAATAAACAAGTGAGTTCTCTTCATTTGGGAAAACTTTTGTTTCTCGTTCCCAAATATGCTGTGTGCAGAATAGAGGACAGAAGACTGTTAGAGGCCTTGTTGAGCCAAGGAGAGAGCAGACAGGCTGATTTTCTCTCTTCTTTGCCCTTCCTGGGGCTGAAAAGTGACTCTTCACCTCCTTGGGTCCAGCCAGCTCTGGAATCGTGGGCTCAGGACAAAGAGCAGAGGCACACACACACACACACGCACGCACGCACGCACGCATGAGAGTAGAAAAACAGCCAAGCTAGGGAGGCTGGGAGGCCAAGCCCCAGATACCTTACATAGCTCTGCTCAGCCTCTGTCTCATTAGGAACTCCATTTTTAGGATGCAGTTGTTTCAGGCTAAAAATAAATCATGCAATGAATAAAAAAGTTAGATACGACACTGTAGAGGGATTCGCTGATACAGTCTGTCCGACTGGTGAAGAGGGAAGAGGCAGAAGGAAAAAGACAAGAATGTACACGCATGAAATAAGGAGGCTAGAAAGGTCAAAGAAGAGAAAGAAACTCGAGAGGGAGAGAGATAAGGGACTATGGTGCCAATAAGCAAATGGAGAGTTCAAACATACGGAATGACACTCATACATTACTGAATTGTTAAATCACCCCAGGGTGGTAACTCAGCCTGTCCCCTCACGGTGGTTGTTCATCCTCTGTTCCTCACTGCAACATGGAACAAAATGGAGCCCCGAGGTAGACTTCTTCATGTTCTACTCCTGTCTTTTTCTGCCTTCCCTCCTCTCTTCTTAAAAATCCTCTGCCAGCCACTGGGCGAGGGGTGCAGGGACACCCTGCTGAACCCAGCTGACACCAGAAGAACCTGTCCTCATTAAACTAAAATGAAACAAGGTTCACAGTTCAAATCCCTACTCTGCCTTTTAACAGCTAATGAACTTTGGAGGGTCACTTGCCCTCTCTGATTCTCAGTTCCCCTCTATGTAAAGTGGGGCTGATAATAACCATAAAGTTTCAAACACATAGATGAAAAAGCATGGCACAAAATAGGTGCTCAAAAATAGTAGCTATTATACTTACTTCTCATTGGAGCTGGTGGAACATTGGTTATATAATGGATATTTGTCTGTTTCTAATATGAATGGTTTGTGAACCCTTTCTTGTCCATTTTCTCCTTGAATCCAGTAGGCAATTGGGGCAAAAGGGATCAGGGCTCATCCTACCGCTGAGCTAACAGCAACTTGTCTGAGTTTGCAGCATTTCTAACTGCCGGAGCAAGAATCCAACCCTGCCTCAAAGCTGCTGCTCCTGGCTGTTTTGCCTCTGACTCTGGGTGATTCCCTTGCAGACACCCCTTTTCTTAAGTACCTTCTTGACCATCTCTTCCAGTCCAACCCTAGTCCAGTCATGTCTCTCCACTCTTCAAAGGCATCTAGGGCATTCATGATTCTGACCAAGTTTTTGTTCTCCTTCAGTTATAAATCAGCTTTGGAAAGACAGAGTACTCTGTCATGCACAGCTTCTGCAGGGGCTAGAAGGCAAAGAGAAGATCCGTGGCCTCTCTGAGTAAAGCAAGGCTCCCCTGCAGTCAGACGGCCTTACACTGAGAGTCAGGCTGATAAGGGGTTGTCTTGATGCTACACTCTCATGTGCAGAAAGTTGGGGCCTTGAAGAACCCATCACTAAAACCCTTGACGGTATTCCGTTCTTTCTAATGGTGTAGTCTCTAAGTTTTCAAAAGATGGAGCCAAGAATATCCATTCTAAGGTGCACTTAGCTTTCCAAGTCAGTGGCAAGCATGCAAGATCTCTGCTTTCTTTAGGAAATTTAAGGGGAAAAAGATTTCCGAGTGAAACAATGT	TGTTACGTACAACTGCCTTCATCTGTAGTAGCTGTGTGACCTTGGACAACTTAGCCTCTCTGCTTCAGTTTCCACATCTATAAAATGGAATTGGTAACTGTACCTACTTAATAGAATTATTGTAAGGATTAAACAAGCTAACACATACCAAGTGCTTAGAACAGTCCCTGCACTTAGTAAGCATTTAATCAACATTATTATTATTTAATCATTTCTTAAGCTGCATGATAGTTACTATTTTTCCATATTTATAGATAAGAAAATGAAGCTCTGAGAAATTACGTAATTTGCCCTGTGTCCTGTGCCTAGTAGAGACAAAGCCAGAACTTAAATCCAGATATCCTGACTTCAAGGTCTGTGTTCTTTTTCTCCTAATGATGCCTCACTCCAGCTTTAGCAGCCTGAGGGGCATCAAATTAACTCCTGTGGTGAACTTTTCCTTATCGGTCTCTGCTGGGCCGGCACCCACTGTGAAAAGGGCACTCTTGGATCAAAGGTGTCTGGAGGGATGGTAAGCCCAGGGGAAGTTTCTGTTCATGATTTTGCATAGTCTTTGGGGACAGATATACTTGGGGGAGCTAGAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAGGATGATAGAAAGATATTTCTTTTTTAAAAAAAATTAGAATCAGAAATGAATGTCCTTGCCTGTACTGGCCACCCAAAGGCATTCTTTTGGAGTTCTAGGCTAACTGGACAGCGATGAGCATATAGGGGAGAATCCTTATGCCTTCAATTAAGTTTTCATAACAATGTCTCTTGATAACTGAGTATGGCAGTTTGAGATGGAGATATAATGTAAGTGTTGGTTTCATGTGCTAAGCAGCAGCTAAGTTCTATGTCTCGTTCTTTTCCAGCCTGTGATTTGCTCATTTCTATAAAATAAAGTCTTAATAACTATCCCTGCTTTCTCTTTTCTTGCAACCCACAGAGAGAACTGAAATTCCACATTCAGCACCCAAGGTTGGAGATATACTTTTGATGTATTTGGGATAGTTTTGCTGGATTTTATTACAGTCAATTTTTCAATTTGAAAAAATTCAAATCCACATGGGTTTTATATGATAATCCTATTAAACTATTTCATCAACCTGAGTTCTCTGATTGTGCTGGTTAATAAACTGTAATTCTCAAATATCCCTTTCACAGGTTTGCGCCTGGGCTAGGCGTGGAGACTGATGAGGCATCTTGGTGCCCACTAGCATTCTTGGCACCCTCAGGCCCTCTTAAAGTGTAAGCCATCTTAAGCTGTCCAGGAGGAGCTGCAGGAATAGTTTCTGGGGCACTCGCAAAGGATTAGAAAATGGGCCCCAGTGCCAGGTTACAAACAGGCAGGCCATGTAATGCGGATAAAATAAGAACTGACTTCAGCTCTGCCCTAAAGTCACACCAAGAACTTTCTGAGAAAAAAAATCACATAAATGAATATGCTGCTCAGAAGATCTGCACACAACTACATTCTGTAATGCTGACTGACGCAAAACAAGAGAGAGGAAAGTCATTTAGTGATATTCTCCGTCTGACCCCCAGAGAGACGCAAGGTCAAGTAACTCTGGTCTCTCCAGGATCATGGGGAGATTTGAGGGAGCAAAGTGGGCACACTGAATGAAATCCACAAGTAGTCCCTGGATTTCATTTCAGCCAACAGTTTTAACAATAGTTTCTACATTCTATCTGGGAAACAATGGCTGGGACAAGGGCCCTTGAAAAGTCAAGGGGGCCATAAAGACTTTACATCAGACCCATCGTAGTGTAGCACGTTTGGTCCTCTTCATTTGAAGAGTTAGGACCCACCCCTCATTGTTCACACATCCCAGCTGTGTGACAAGGGCATCTGATTCACGTGAGGCCAAAATAAAGCAGAGTTCAGTATATATTCTCTGCATCCTCGTTCCCATATCCCAACCCCTGGCCAAAGGCATTCCCTCGGCACCTCACTGAGGCAGCGCAGACAGCATGCCCTTTGGTTACTTACCTCAAGCACGATTTCTTTCAGTGGAACTGTTTTTGCGTGACCTTATCTGAAGACACCGGCTCATGGTAGTAGAGGCAAAGCAAGTCATATTTCTTTAAAACCTGCTTGAAGTTCTTCTCGGAAAGACTTACCACTCGGTCCTTCCCATCATATGTGGGGAAATTAAGCCCCTCTTCTGCCCTGCAAGAGGACAGAAAATAAATCCCCACAATAAACAAGTGAGTTCTCTTCATTTGGGAAAACTTTTGTTTCTCGTTCCCAAATATGCTGTGTGCAGAATAGAGGACAGAAGACTGTTAGAGGCCTTGTTGAGCCAAGGAGAGAGCAGACAGGCTGATTTTCTCTCTTCTTTGCCCTTCCTGGGGCTGAAAAGTGACTCTTCACCTCCTTGGGTCCAGCCAGCTCTGGAATCGTGGGCTCAGGACAAAGAGCAGAGGCACACACACACACACACGCACGCACGCACGCACGCATGAGAGTAGAAAAACAGCCAAGCTAGGGAGGCTGGGAGGCCAAGCCCCAGATACCTTACATAGCTCTGCTCAGCCTCTGTCTCATTAGGAACTCCATTTTTAGGATGCAGTTGTTTCAGGCTAAAAATAAATCATGCAATGAATAAAAAAGTTAGATACGACACTGTAGAGGGATTCGCTGATACAGTCTGTCCGACTGGTGAAGAGGGAAGAGGCAGAAGGAAAAAGACAAGAATGTACACGCATGAAATAAGGAGGCTAGAAAGGTCAAAGAAGAGAAAGAAACTCGAGAGGGAGAGAGATAAGGGACTATGGTGCCAATAAGCAAATGGAGAGTTCAAACATACGGAATGACACTCATACATTACTGAATTGTTAAATCACCCCAGGGTGGTAACTCAGCCTGTCCCCTCACGGTGGTTGTTCATCCTCTGTTCCTCACTGCAACATGGAACAAAATGGAGCCCCGAGGTAGACTTCTTCATGTTCTACTCCTGTCTTTTTCTGCCTTCCCTCCTCTCTTCTTAAAAATCCTCTGCCAGCCACTGGGCGAGGGGTGCAGGGACACCCTGCTGAACCCAGCTGACACCAGAAGAACCTGTCCTCATTAAACTAAAATGAAACAAGGTTCACAGTTCAAATCCCTACTCTGCCTTTTAACAGCTAATGAACTTTGGAGGGTCACTTGCCCTCTCTGATTCTCAGTTCCCCTCTATGTAAAGTGGGGCTGATAATAACCATAAAGTTTCAAACACATAGATGAAAAAGCATGGCACAAAATAGGTGCTCAAAAATAGTAGCTATTATACTTACTTCTCATTGGAGCTGGTGGAACATTGGTTATATAATGGATATTTGTCTGTTTCTAATATGAATGGTTTGTGAACCCTTTCTTGTCCATTTTCTCCTTGAATCCAGTAGGCAATTGGGGCAAAAGGGATCAGGGCTCATCCTACCGCTGAGCTAACAGCAACTTGTCTGAGTTTGCAGCATTTCTAACTGCCGGAGCAAGAATCCAACCCTGCCTCAAAGCTGCTGCTCCTGGCTGTTTTGCCTCTGACTCTGGGTGATTCCCTTGCAGACACCCCTTTTCTTAAGTACCTTCTTGACCATCTCTTCCAGTCCAACCCTAGTCCAGTCATGTCTCTCCACTCTTCAAAGGCATCTAGGGCATTCATGATTCTGACCAAGTTTTTGTTCTCCTTCAGTTATAAATCAGCTTTGGAAAGACAGAGTACTCTGTCATGCACAGCTTCTGCAGGGGCTAGAAGGCAAAGAGAAGATCCGTGGCCTCTCTGAGTAAAGCAAGGCTCCCCTGCAGTCAGACGGCCTTACACTGAGAGTCAGGCTGATAAGGGGTTGTCTTGATGCTACACTCTCATGTGCAGAAAGTTGGGGCCTTGAAGAACCCATCACTAAAACCCTTGACGGTATTCCGTTCTTTCTAATGGTGTAGTCTCTAAGTTTTCAAAAGATGGAGCCAAGAATATCCATTCTAAGGTGCACTTAGCTTTCCAAGTCAGTGGCAAGCATGCAAGATCTCTGCTTTCTTTAGGAAATTTAAGGGGAAAAAGATTTCCGAGTGAAACAATGTN	pathogenic	13,641
Is the chromosome 1, position 116397859 variant in ATP1A1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated?	benign	GCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGAATTACAGGCACCCGCTACCACGCCCAGCTAATTTTTGTATTTTTAAGTAAAGATAGGGTTTCGCCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGGTTACAAGCGTGAGCCACCACACCCGGCCTACTCTCAGGATTAATACTGCCCTGAAAAGCTTTGTAGAAGTTATTTCCTCACCATTCCGACTGCTTCTTTTTAAAGTATATTCTAAGTATAATCACTGCATCAAAAAATAACAATTTTGAATTCTTGTCACATGTTGCTTTTCCTCCAAGTTGTGCCAATTTGAGAATGCTAGCCAGTAGCATGTGGTGTCTTCACAGTCCCACCAGCATCAGATTTTTATCCTTTTTTTTTTTTTTTTTTTTTGCTGGTTTTAGTAATTTTCAAGTATTTTTATGTAACTCTGTAGAAGGAAAAATAGACATTGTGTATGCTAGTGATTGTATACCAAGATAAAACCTGAGTATTGCCTTTGTGTTTCCTTTCTGTGGATATATATGTTTATATTTTTGGCTAATCGATGTTTATTAGTTTTATATTTGCATTCCTTTCCTTTTGATAGTCTAAGCCGAATCATCCTTAGTATTTACTCTTGCCTACTGGATATAAGACTTTAAGGTCATTTACTTGGCAGTTGCATTCAACACATTGTCTTGTTTATTACAGGTCATCATGGTCACAGGAGACCATCCAATCACAGCTAAAGCTATTGCCAAAGGTGTGGGCATCATCTCAGAAGGCAATGAGACCGTGGAAGACATTGCTGCCCGCCTCAACATCCCAGTCAGCCAGGTGAACCCCAGGTAAGGCAGGAAGCTCAAATCACAGTCTGCTGTGAACAAGCAAATAGTGATGGTTTAAAATCTTCAGCGTGGTTCTATAATGGTTTGCATCTAGGCTTGCTCTGAGTAGGAAATGTACCTGCACTGCCAGAAAGCAACCTTGTCATTCCTAAGAAGGGTTTTAAGTAAGAGCAAGTCATAATAATTAGCACTTAGATGGTATTTACTGTTCTAAGAGCTTGATATGGTGACCTATTATTTGCAGAGCAGGGAAGGTAAGGATTCAAGAGGCTTTTGAAGTACCTCAGAACTGGTGAAATCATGCAGTAAATTCAGCAGTCTAGCTTCTGATTTCATGCTGTTAACCACTGAGCTCTACTGCCTAGCACCTAGCATCTTGACACTTTCCAGGTCCACACTAACAAAATAAAATAAGGAAGGGACAATTACTTAGGCCATTCAGGCAAACACAGGAGACATTTGGCAATGAAGTAAAACAGATAATAGCAAATTGGTTTTGTTTTAAGGTTTAGGGCCCTTTCACCCTATGTTACGGTTAGAGGAGGGTTTGGTCTTGTATCAGCTCTGCCACTTTCTAAAACTTGGTTATATTTCTTTTTTTCTTTGATGGAGTCTCGCTCTGTCATCCCGGTTGGAGTGCAGTGTCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCCCCAACCACCATGCCCGGCTAATTTTTGAATTTTTAGACCACCATTTTGGCAAGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACACACCCAGCTAAAACTTGGTTATATTTCAGCATGTCTAATAAAGATAGGGAAAGGAAGAATACAGACAGGCCTGCCTTAGAGATCATCATGAGCCTCAAATGAGATAAAATATATGAAAATGCTCTGTAACCTGTAAAGTACTGAACACTTAATAGCTTTTATGTGCTGGGGAAAATTCCTTCTTTGTTTTGTTTACAAAGTGATCTGCATAAGAATATCCCCTCTTGAGGTGATGGACACATGCTGGTGATGTGATGCGTGACTTTTTTTTTTTTTTTGTCCTAATTCTAGGGATGCCAAGGCCTGCGTAGTACACGGCAGTGATCTAAAGGACATGACCTCCGAGCAGCTGGATGACATTTTGAAGTACCACACTGAGATAGTGTTTGCCAGGACCTCCCCTCAGCAGAAGCTCATCATTGTGGAAGGCTGCCAAAGACAGGTCAGCCAGCACAAGGATCAGGCTGCTTTGGGCACTATTGGCTTTAGGGATTGGAGTTCCAGTGGAAACAGAGCAACGGTGATGGATGGATGCATACCTCGCTGTATTAGACTCAGTATAAATAGGCCAGTAGGAAGCTCATAGGCATAGAGAGGGTGACTTGTTAATGGTTTAGCAGTGACAGAAGCACTTTAAAGTCCAGGTGTCCACTGTGTCCCAGAGCCTGACCGCTCCGTGGAGTCATCTGATATGGGGTCCTAGTATTTGCAATAGAGATGTGAGTGGTCAGACTACAGGGCGTGCATACAGGAATGGCATTTTCTGGAGTGCCACCCACCAGAGTCATTACTTTGAGTAGCTCTTGTTAATGCTGGGGGCTATGTTTGTTGTCACTTCTCAGTTCTGTTATTTGGTGTAGGGCCTGTGTGAATACTTGCCTGTGACGGTTCTCAGGCTTCATAAATAGTCTCAATAGGAAAGGAGCAGTGTCTGTAATGAGTGCTCAGTGGGGGCATGCATCGCACTATTTCCATCGCTAGGAAAAGTGATTGGTATTAACCCGTTTTCCCTTTTCTGGGGTAGGGTGCTATCGTGGCTGTGACTGGTGACGGTGTGAATGACTCTCCAGCTTTGAAGAAAGCAGACATTGGGGTTGCTATGGGGATTGCTGGCTCAGATGTGTCCAAGCAAGCTGCTGACATGATTCTTCTGGATGACAACTTTGCCTCAATTGTGACTGGAGTAGAGGAAGGTGAGAGCTATTTAAGGTGTACACCAAGATCTTATTCAGATACTGCCCATTAGCATCCATTTCTGTATACTTCTTGGATATGTTCAGTTTCCAGTGTGCTTGTCTCATAAGCTAACAGTAAAAAATCTTGGTTTTCATAGGTCGTCTGATCTTTGATAACTTGAAGAAATCCATTGCTTATACCTTAACCAGTAACATTCCCGAGATCACCCCGTTCCTGATATTTATTATTGCAAACATTCCACTACCACTGGGGACTGTCACCATCCTCTGCATTGACTTGGGCACTGACATGGTGAGTGTCACAACAGTCACAGATCGATAGTAGTGAGGTGTGAGCTGTGTCTTCATTCACTGGCACTATGCTCCCAGCATCCATGAGGCTGGCGTTGGGAAAAGAAATTCTCAGGACCAGTATCCAGTGTGTGTCCCAATCCCGGCTTCACAGAATCAGTATTACCACTCTTCAAGGCAGCAGTTAACATTTGTTTATCAGATGGGAATCTTTATTTTTGTATACTTCACCTAAAAGATTTTTAAATGGGAGGGCAAGAATTTTATAACAAAAGGTTCACAATATTAGCTTCCTTATTTTTAGTAACTAAATTCCTTCTCCCCACCCCTTCCCAGGTTCCTGCCATCTCCCTGGCTTATGAGCAGGCTGAGAGTGACATCATGAAGAGACAGCCCAGAAATCCCAAAACAGACAAACTTGTGAATGAGCGGCTGATCAGCATGGCCTATGGGCAGATTGGTAAGCTGCAGCCTGGAGTGGGAAGCTGGCACATCTAAGGCATCTGAGGTGATGGTGTCCACCTCAGGTTGAGGTTGATTTCAGAGACTGCAAATCCAGGCGACTTTCAGGTCTAGGATGAGCCCTAACGGAGTGAGCCTGTGGAGTTTCTCTGAACTCTCTTCCATGTGAGAATACATCTGTTGCTGTTTGCCCAGTTACCTTTTGTGGAAACTGGTTTTCTATACTGAGCACCTTGGAACTGGGCTCAACTCTGCCTGAGAAATGAGGATGTCCTTCCTCACTGAGCCTTGCGGAACAGGAGGCATGGTTCTAAGGAATTGTGTGTACTGACGCACAGGCTGCTTTCCCTGGAGATACACA	GCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGAATTACAGGCACCCGCTACCACGCCCAGCTAATTTTTGTATTTTTAAGTAAAGATAGGGTTTCGCCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGGTTACAAGCGTGAGCCACCACACCCGGCCTACTCTCAGGATTAATACTGCCCTGAAAAGCTTTGTAGAAGTTATTTCCTCACCATTCCGACTGCTTCTTTTTAAAGTATATTCTAAGTATAATCACTGCATCAAAAAATAACAATTTTGAATTCTTGTCACATGTTGCTTTTCCTCCAAGTTGTGCCAATTTGAGAATGCTAGCCAGTAGCATGTGGTGTCTTCACAGTCCCACCAGCATCAGATTTTTATCCTTTTTTTTTTTTTTTTTTTTTGCTGGTTTTAGTAATTTTCAAGTATTTTTATGTAACTCTGTAGAAGGAAAAATAGACATTGTGTATGCTAGTGATTGTATACCAAGATAAAACCTGAGTATTGCCTTTGTGTTTCCTTTCTGTGGATATATATGTTTATATTTTTGGCTAATCGATGTTTATTAGTTTTATATTTGCATTCCTTTCCTTTTGATAGTCTAAGCCGAATCATCCTTAGTATTTACTCTTGCCTACTGGATATAAGACTTTAAGGTCATTTACTTGGCAGTTGCATTCAACACATTGTCTTGTTTATTACAGGTCATCATGGTCACAGGAGACCATCCAATCACAGCTAAAGCTATTGCCAAAGGTGTGGGCATCATCTCAGAAGGCAATGAGACCGTGGAAGACATTGCTGCCCGCCTCAACATCCCAGTCAGCCAGGTGAACCCCAGGTAAGGCAGGAAGCTCAAATCACAGTCTGCTGTGAACAAGCAAATAGTGATGGTTTAAAATCTTCAGCGTGGTTCTATAATGGTTTGCATCTAGGCTTGCTCTGAGTAGGAAATGTACCTGCACTGCCAGAAAGCAACCTTGTCATTCCTAAGAAGGGTTTTAAGTAAGAGCAAGTCATAATAATTAGCACTTAGATGGTATTTACTGTTCTAAGAGCTTGATATGGTGACCTATTATTTGCAGAGCAGGGAAGGTAAGGATTCAAGAGGCTTTTGAAGTACCTCAGAACTGGTGAAATCATGCAGTAAATTCAGCAGTCTAGCTTCTGATTTCATGCTGTTAACCACTGAGCTCTACTGCCTAGCACCTAGCATCTTGACACTTTCCAGGTCCACACTAACAAAATAAAATAAGGAAGGGACAATTACTTAGGCCATTCAGGCAAACACAGGAGACATTTGGCAATGAAGTAAAACAGATAATAGCAAATTGGTTTTGTTTTAAGGTTTAGGGCCCTTTCACCCTATGTTACGGTTAGAGGAGGGTTTGGTCTTGTATCAGCTCTGCCACTTTCTAAAACTTGGTTATATTTCTTTTTTTCTTTGATGGAGTCTCGCTCTGTCATCCCGGTTGGAGTGCAGTGTCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCCCCAACCACCATGCCCGGCTAATTTTTGAATTTTTAGACCACCATTTTGGCAAGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACACACCCAGCTAAAACTTGGTTATATTTCAGCATGTCTAATAAAGATAGGGAAAGGAAGAATACAGACAGGCCTGCCTTAGAGATCATCATGAGCCTCAAATGAGATAAAATATATGAAAATGCTCTGTAACCTGTAAAGTACTGAACACTTAATAGCTTTTATGTGCTGGGGAAAATTCCTTCTTTGTTTTGTTTACAAAGTGATCTGCATAAGAATATCCCCTCTTGAGGTGATGGACACATGCTGGTGATGTGATGCGTGACTTTTTTTTTTTTTTGTCCTAATTCTAGGGATGCCAAGGCCTGCGTAGTACACGGCAGTGATCTAAAGGACATGACCTCCGAGCAGCTGGATGACATTTTGAAGTACCACACTGAGATAGTGTTTGCCAGGACCTCCCCTCAGCAGAAGCTCATCATTGTGGAAGGCTGCCAAAGACAGGTCAGCCAGCACAAGGATCAGGCTGCTTTGGGCACTATTGGCTTTAGGGATTGGAGTTCCAGTGGAAACAGAGCAACGGTGATGGATGGATGCATACCTCGCTGTATTAGACTCAGTATAAATAGGCCAGTAGGAAGCTCATAGGCATAGAGAGGGTGACTTGTTAATGGTTTAGCAGTGACAGAAGCACTTTAAAGTCCAGGTGTCCACTGTGTCCCAGAGCCTGACCGCTCCGTGGAGTCATCTGATATGGGGTCCTAGTATTTGCAATAGAGATGTGAGTGGTCAGACTACAGGGCGTGCATACAGGAATGGCATTTTCTGGAGTGCCACCCACCAGAGTCATTACTTTGAGTAGCTCTTGTTAATGCTGGGGGCTATGTTTGTTGTCACTTCTCAGTTCTGTTATTTGGTGTAGGGCCTGTGTGAATACTTGCCTGTGACGGTTCTCAGGCTTCATAAATAGTCTCAATAGGAAAGGAGCAGTGTCTGTAATGAGTGCTCAGTGGGGGCATGCATCGCACTATTTCCATCGCTAGGAAAAGTGATTGGTATTAACCCGTTTTCCCTTTTCTGGGGTAGGGTGCTATCGTGGCTGTGACTGGTGACGGTGTGAATGACTCTCCAGCTTTGAAGAAAGCAGACATTGGGGTTGCTATGGGGATTGCTGGCTCAGATGTGTCCAAGCAAGCTGCTGACATGATTCTTCTGGATGACAACTTTGCCTCAATTGTGACTGGAGTAGAGGAAGGTGAGAGCTATTTAAGGTGTACACCAAGATCTTATTCAGATACTGCCCATTAGCATCCATTTCTGTATACTTCTTGGATATGTTCAGTTTCCAGTGTGCTTGTCTCATAAGCTAACAGTAAAAAATCTTGGTTTTCATAGGTCGTCTGATCTTTGATAACTTGAAGAAATCCATTGCTTATACCTTAACCAGTAACATTCCCGAGATCACCCCGTTCCTGATATTTATTATTGCAAACATTCCACTACCACTGGGGACTGTCACCATCCTCTGCATTGACTTGGGCACTGACATGGTGAGTGTCACAACAGTCACAGATCGATAGTAGTGAGGTGTGAGCTGTGTCTTCATTCACTGGCACTATGCTCCCAGCATCCATGAGGCTGGCGTTGGGAAAAGAAATTCTCAGGACCAGTATCCAGTGTGTGTCCCAATCCCGGCTTCACAGAATCAGTATTACCACTCTTCAAGGCAGCAGTTAACATTTGTTTATCAGATGGGAATCTTTATTTTTGTATACTTCACCTAAAAGATTTTTAAATGGGAGGGCAAGAATTTTATAACAAAAGGTTCACAATATTAGCTTCCTTATTTTTAGTAACTAAATTCCTTCTCCCCACCCCTTCCCAGGTTCCTGCCATCTCCCTGGCTTATGAGCAGGCTGAGAGTGACATCATGAAGAGACAGCCCAGAAATCCCAAAACAGACAAACTTGTGAATGAGCGGCTGATCAGCATGGCCTATGGGCAGATTGGTAAGCTGCAGCCTGGAGTGGGAAGCTGGCACATCTAAGGCATCTGAGGTGATGGTGTCCACCTCAGGTTGAGGTTGATTTCAGAGACTGCAAATCCAGGCGACTTTCAGGTCTAGGATGAGCCCTAACGGAGTGAGCCTGTGGAGTTTCTCTGAACTCTCTTCCATGTGAGAATACATCTGTTGCTGTTTGCCCAGTTACCTTTTGTGGAAACTGGTTTTCTATACTGAGCACCTTGGAACTGGGCTCAACTCTGCCTGAGAAATGAGGATGTCCTTCCTCACTGAGCCTTGCGGAACAGGAGGCATGGTTCTAAGGAATTGTGTGTACTGACGCACAGGCTGCTTTCCCTGGAGATACACAN	benign	13,694
Gene HSD3B2 variant at chromosome position 119415482 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency']	TGGGGAGTCAAGCTAAATCATTTGTAGAGTATGACTTCCAACAACTTCAGAAAGCATTCTTTTGAAGTGCTTATGGCATTTCCACCAACATAGACCATAGGCTGGACCATAAAACAAATCTCAATATATATCAAAGAATCAAAATCATACAGAGTATATGCTCTGGCCACAATAATATTTAATTAGAAATACATAACAATAAGAAAATCCCCAGTTTTAGAAAACATGCAACATGCTTCTCAATAACACTTGGGTCAAAGAAGACATCACAAGAAAAAATTCAAAACGTCAGTAACTGAATAATGATAACCCAATGCATCAAAATGTTGGATACAGCTAACATAGTGTTTAGAGAGAAATTTACAACTTTAAATGCCTATGGTGGAAATGAGCAAAGAAGTAAAGTCAATTATCTATGCTTTTATCATAAGAACCCTGAAAAAGAAGAGTAAAATAAACCCAAAGTTAATAAACATTTAAGCCAATAATAAAAATAATGAAAATCATGAAATAGAAAAATGAACAAACAATAGAGACAATCAGTGGTCAATTTTTCTGTACTCCATGAACAAAACTTCAGTTCAGAATGATTTTATATTTAAATATATATCCAGAATCACAAAGATCTTAGAAGAAAAAATTAGGAAAATATAGGAATAAAGTGGGAACTCTGTGGGAATAAAAATCAGAAAGTAATTGCCTACCAGGTAAACTCGGGGGAGGGCAGGCAATTGACTAAGAACAGGCAGATAAAACTTTCTGGAGTGAAGGAAATGGTGGTCTTCTTTTCGTTGGTACTTACATGGACATATATAACTGTCAAGGTTCATTGACAATGAACACTTAAGTGTACACTGAACGCTTAAGATCTGGGCCTTGTAATGCCCAGATTACATCTACTTAAAAAAACTACATCTCTATTTTTTTAAGTAGAGAAAAGTGTCTTGGGGAGTTTATGGCAGTGATGTTTGGGCAGACTGGGGCATAGGTTTCAGAAGCATTCATAGCATCTTCAGTTCAACAATTTGCTAAGAATGGTTTTGCAGCCAAAAATGTAAGATGAGTGCAAATATCTATGATTAGAGTCATTGGGCATACAACTACAAATCCCCACACTTGTATTACAGGCCATATGATTAATTCGTTATCACTAGATACCTTTCCTTCAATGAGGTTCTTCCATTAGGAACCCAGAGCTCTCCAGGGAAAAATTGCAATTGAGGTTTTGGATATATTGGGTGGAAAAGAAAGTCACCTCACATAAAACTTAGTGATTGGAGCTGTCACCATTGAAAATTTCTAAACTTTGCAAGACAGCAGTGACGTTTCAAATGACACTCTCAGAGAGTTGATAATGGGCTAAAATAGATCTCCCTCCAGGTGGATTTACTGTACAAGGACAACATTTACATTGCACTTGGAGACTTCTCCCAGTTTGGTTTAAGTTCACAGATTGCAGATCCCAGACAGCTGGTATCAACTGACCAGTGTTCTGTTAAGGCTAAAGCCAAGACTCTTTATCACACTGTGGCCTTAAGATTGGATTTCTCTTCCTGTTCCTGGGAAGAATTAGAGATATAACCTAAAGGTCACTATTATTCTGAGAAAAGGGATTCTGGAGGAGGAGGGAGCAATGAGTATGTGGCAGGAGTTCAAGGTAATAAGGGCTGAGACACAAGCCACAGAGCATAAAGCTCCAGTCCTTCCTCCAGGGATGAGGCAGTAAGGACTTGGACTCCTCTGTCCAGCTTTTAACAATCTAAGTTACGGTTAGAGCTTTCTCCTTTTCTTTCAACTACTCCTGGCAGTTGTGGGGTCATGGAATTTTTGTAAAAAATGGGGTGGAGGAAAATAAGGCATCTGCTGAGTGTATAACCATTTTACCTCTTGTTTTTAGCCCTCTTCTGGGTCACGCTAGAATCAGATCTGCTCTCCAGCATCTTCTGTTTCCTGGCAAGTGTTTCCTGCTACTTTGGATTGGCCACGATGGGCTGGAGCTGCCTTGTGACAGGAGCAGGAGGGCTTCTGGGTCAGAGGATCGTCCGCCTGTTGGTGGAAGAGAAGGAACTGAAGGAGATCAGGGCCTTGGACAAGGCCTTCAGACCAGAATTGAGAGAGGAATTTTCTAGTAAGTAAACTTGAGTCATGGGTCTGTGGCTCCATCTTAAACTCTGCATGGGTGTGGGGAGGTTGACCTTGTCTAGCAAGTTAAGGAAAGTTGTAGCCAAATGAAAGCCAGTCACACATCTAAAGTCATCAGAAAGGAAATAGAATAAAATGGTATAGTGTGAAAGATACTGGATGGGGTGTCCAGAGACTGGATTCTGGCCCTGACGCAGAACTTGAGAGGCAGCCATGTCAGCCTCAAGGCCCCTTTTCTTCTCTTCTAGAGAGTCACACATGAGTTCTCCTTCTTGTCTACAACTCTTATGTTCTGAAGCTTTTTGTCTTGGCGATTGCTGTGCGACATTCACAAAGGACATCATTTACCTGGAGACCTCACCAGTGGGTCCTGCCTGTCTAGACTGCCCCAGGCTTCATTTCATTTTATAGCTTCCTTAGTATCTTTAGTGAGGGCAAAATAAAAGGAAGTGAAGGTACGGATGTGTGTGTAATTGTGTGTGTGTGTCAGACAGAGAAAGAAAATGAGGGGGAAAGAAGGTCAGAGACAGAGAATGAGAAAGACAGAGAATGAATGAGAAAGATAGTGTGAGGGAGAGCATCAGCAAGAGAGAGAGAGTGAAAGTGAGAGAGATCATCAGTGAGAGAGAGAGAAAGAGAGAAAGAGAGCATGCACAAGTGCACGGCACAGAGCAGAGACAGAGTAAAAGGCAGTATGAGGCCAACATGCCTCATTTATATTTCTCATATATAGCCTTTTTAAAAAAAAACCATTTGTATCTGTTGTTCAATACTCCAAATAAATTGACTGCAGAATTTGCTGTAGTAACTCTTTGTGCAAATAACCCTGTGAGGAAGGTAGAAAAGGGGTCACCTCCAACTGGACAATGAACCCATCAAGTTCCAGAAACATAAAGTTACTTGCCAAGAACAGCTGATTAATGTGTAGCAGAGCTCAGACCAGAGCTTCATTCCAGAAGCTTCATCACTTGACCCCCGGGCTAATCCTTGGTGGGTCTTCAGTCTCTCCCTTTGCCTCTCTGTGTGCCCCAAACCAATTCCATGTTTTCCTCCCAACCCAGGGGACTGGGGGAACTATGTATCTTCTTCATGCAGGTTCTGGCTGCCTAGAAGGTCCTGCCCTGTTCACACAGAAGCTCCCCTTGACACTCTCCTCTTCTTTCACTCTTCTCTGACCTCTTTAAATGTCCAATTTCCTCCACTCTCTGTTCTAATAGTGAACAGATATTAACACATGACTGATATTAAATGTTTGTAATCCTTATGTCTCAGCAATATTTACAATCTAACATCTGATACCAGGAAAAAGCAATGCTCAGTCTAGAGGAAGAGTTCTGCTATGGTGAAAATGCAGGGAGCATAATGGATGGGCAGGGCCTGTATGAAGATAAAAACAGAGAATCCTTTCAGTGTTCTTTCTGTGCCAGGCACTGTGCTAAAGGTTTTGCATGTGCTGACTCATTTACTTCCCATAACAACCCTATGAGATGGGTAATACTATTATCCTCCTTTTTTATAGATGAGGAGACAGACACAGAGAGGTTAATCAACTTGTCGAAGGTCCCAAGTTAGATTACGGCAAAGCTGGATTTGAATCCAGGCAGTCTAGTGCAGCTTCTGTGCTCTTAAGTAGTAGTTTGTCTAGCAGCTTCTCTGAGCCTCCCTCCAGCCCAACACACAACACAAAAGCAACTGAATTTAGTCTACATGAAACACTTGCCAAGTCCACAGTGCCTTGGAGAAGGAGGGAGCTAAGACTCCATCAAAAATTGCGCTTTTCTGGTCTCTCTAGATCCATGGAAACTCACCGGGGAAGAGTCATTTTCTATCGGCTTTGGACTTCTGCTATGAAATGGCAATTCCTTTGAGCCAGTCTGTCTAAAGTCGGCAGCAAAGGAGAAGCAGATGAAGGGAGTAGAAAAGGTAGAGGTGGAAATACAACCAGAGAAAATTC	TGGGGAGTCAAGCTAAATCATTTGTAGAGTATGACTTCCAACAACTTCAGAAAGCATTCTTTTGAAGTGCTTATGGCATTTCCACCAACATAGACCATAGGCTGGACCATAAAACAAATCTCAATATATATCAAAGAATCAAAATCATACAGAGTATATGCTCTGGCCACAATAATATTTAATTAGAAATACATAACAATAAGAAAATCCCCAGTTTTAGAAAACATGCAACATGCTTCTCAATAACACTTGGGTCAAAGAAGACATCACAAGAAAAAATTCAAAACGTCAGTAACTGAATAATGATAACCCAATGCATCAAAATGTTGGATACAGCTAACATAGTGTTTAGAGAGAAATTTACAACTTTAAATGCCTATGGTGGAAATGAGCAAAGAAGTAAAGTCAATTATCTATGCTTTTATCATAAGAACCCTGAAAAAGAAGAGTAAAATAAACCCAAAGTTAATAAACATTTAAGCCAATAATAAAAATAATGAAAATCATGAAATAGAAAAATGAACAAACAATAGAGACAATCAGTGGTCAATTTTTCTGTACTCCATGAACAAAACTTCAGTTCAGAATGATTTTATATTTAAATATATATCCAGAATCACAAAGATCTTAGAAGAAAAAATTAGGAAAATATAGGAATAAAGTGGGAACTCTGTGGGAATAAAAATCAGAAAGTAATTGCCTACCAGGTAAACTCGGGGGAGGGCAGGCAATTGACTAAGAACAGGCAGATAAAACTTTCTGGAGTGAAGGAAATGGTGGTCTTCTTTTCGTTGGTACTTACATGGACATATATAACTGTCAAGGTTCATTGACAATGAACACTTAAGTGTACACTGAACGCTTAAGATCTGGGCCTTGTAATGCCCAGATTACATCTACTTAAAAAAACTACATCTCTATTTTTTTAAGTAGAGAAAAGTGTCTTGGGGAGTTTATGGCAGTGATGTTTGGGCAGACTGGGGCATAGGTTTCAGAAGCATTCATAGCATCTTCAGTTCAACAATTTGCTAAGAATGGTTTTGCAGCCAAAAATGTAAGATGAGTGCAAATATCTATGATTAGAGTCATTGGGCATACAACTACAAATCCCCACACTTGTATTACAGGCCATATGATTAATTCGTTATCACTAGATACCTTTCCTTCAATGAGGTTCTTCCATTAGGAACCCAGAGCTCTCCAGGGAAAAATTGCAATTGAGGTTTTGGATATATTGGGTGGAAAAGAAAGTCACCTCACATAAAACTTAGTGATTGGAGCTGTCACCATTGAAAATTTCTAAACTTTGCAAGACAGCAGTGACGTTTCAAATGACACTCTCAGAGAGTTGATAATGGGCTAAAATAGATCTCCCTCCAGGTGGATTTACTGTACAAGGACAACATTTACATTGCACTTGGAGACTTCTCCCAGTTTGGTTTAAGTTCACAGATTGCAGATCCCAGACAGCTGGTATCAACTGACCAGTGTTCTGTTAAGGCTAAAGCCAAGACTCTTTATCACACTGTGGCCTTAAGATTGGATTTCTCTTCCTGTTCCTGGGAAGAATTAGAGATATAACCTAAAGGTCACTATTATTCTGAGAAAAGGGATTCTGGAGGAGGAGGGAGCAATGAGTATGTGGCAGGAGTTCAAGGTAATAAGGGCTGAGACACAAGCCACAGAGCATAAAGCTCCAGTCCTTCCTCCAGGGATGAGGCAGTAAGGACTTGGACTCCTCTGTCCAGCTTTTAACAATCTAAGTTACGGTTAGAGCTTTCTCCTTTTCTTTCAACTACTCCTGGCAGTTGTGGGGTCATGGAATTTTTGTAAAAAATGGGGTGGAGGAAAATAAGGCATCTGCTGAGTGTATAACCATTTTACCTCTTGTTTTTAGCCCTCTTCTGGGTCACGCTAGAATCAGATCTGCTCTCCAGCATCTTCTGTTTCCTGGCAAGTGTTTCCTGCTACTTTGGATTGGCCACGATGGGCTGGAGCTGCCTTGTGACAGGAGCAGGAGGGCTTCTGGGTCAGAGGATCGTCCGCCTGTTTGGTGGAAGAGAAGGAACTGAAGGAGATCAGGGCCTTGGACAAGGCCTTCAGACCAGAATTGAGAGAGGAATTTTCTAGTAAGTAAACTTGAGTCATGGGTCTGTGGCTCCATCTTAAACTCTGCATGGGTGTGGGGAGGTTGACCTTGTCTAGCAAGTTAAGGAAAGTTGTAGCCAAATGAAAGCCAGTCACACATCTAAAGTCATCAGAAAGGAAATAGAATAAAATGGTATAGTGTGAAAGATACTGGATGGGGTGTCCAGAGACTGGATTCTGGCCCTGACGCAGAACTTGAGAGGCAGCCATGTCAGCCTCAAGGCCCCTTTTCTTCTCTTCTAGAGAGTCACACATGAGTTCTCCTTCTTGTCTACAACTCTTATGTTCTGAAGCTTTTTGTCTTGGCGATTGCTGTGCGACATTCACAAAGGACATCATTTACCTGGAGACCTCACCAGTGGGTCCTGCCTGTCTAGACTGCCCCAGGCTTCATTTCATTTTATAGCTTCCTTAGTATCTTTAGTGAGGGCAAAATAAAAGGAAGTGAAGGTACGGATGTGTGTGTAATTGTGTGTGTGTGTCAGACAGAGAAAGAAAATGAGGGGGAAAGAAGGTCAGAGACAGAGAATGAGAAAGACAGAGAATGAATGAGAAAGATAGTGTGAGGGAGAGCATCAGCAAGAGAGAGAGAGTGAAAGTGAGAGAGATCATCAGTGAGAGAGAGAGAAAGAGAGAAAGAGAGCATGCACAAGTGCACGGCACAGAGCAGAGACAGAGTAAAAGGCAGTATGAGGCCAACATGCCTCATTTATATTTCTCATATATAGCCTTTTTAAAAAAAAACCATTTGTATCTGTTGTTCAATACTCCAAATAAATTGACTGCAGAATTTGCTGTAGTAACTCTTTGTGCAAATAACCCTGTGAGGAAGGTAGAAAAGGGGTCACCTCCAACTGGACAATGAACCCATCAAGTTCCAGAAACATAAAGTTACTTGCCAAGAACAGCTGATTAATGTGTAGCAGAGCTCAGACCAGAGCTTCATTCCAGAAGCTTCATCACTTGACCCCCGGGCTAATCCTTGGTGGGTCTTCAGTCTCTCCCTTTGCCTCTCTGTGTGCCCCAAACCAATTCCATGTTTTCCTCCCAACCCAGGGGACTGGGGGAACTATGTATCTTCTTCATGCAGGTTCTGGCTGCCTAGAAGGTCCTGCCCTGTTCACACAGAAGCTCCCCTTGACACTCTCCTCTTCTTTCACTCTTCTCTGACCTCTTTAAATGTCCAATTTCCTCCACTCTCTGTTCTAATAGTGAACAGATATTAACACATGACTGATATTAAATGTTTGTAATCCTTATGTCTCAGCAATATTTACAATCTAACATCTGATACCAGGAAAAAGCAATGCTCAGTCTAGAGGAAGAGTTCTGCTATGGTGAAAATGCAGGGAGCATAATGGATGGGCAGGGCCTGTATGAAGATAAAAACAGAGAATCCTTTCAGTGTTCTTTCTGTGCCAGGCACTGTGCTAAAGGTTTTGCATGTGCTGACTCATTTACTTCCCATAACAACCCTATGAGATGGGTAATACTATTATCCTCCTTTTTTATAGATGAGGAGACAGACACAGAGAGGTTAATCAACTTGTCGAAGGTCCCAAGTTAGATTACGGCAAAGCTGGATTTGAATCCAGGCAGTCTAGTGCAGCTTCTGTGCTCTTAAGTAGTAGTTTGTCTAGCAGCTTCTCTGAGCCTCCCTCCAGCCCAACACACAACACAAAAGCAACTGAATTTAGTCTACATGAAACACTTGCCAAGTCCACAGTGCCTTGGAGAAGGAGGGAGCTAAGACTCCATCAAAAATTGCGCTTTTCTGGTCTCTCTAGATCCATGGAAACTCACCGGGGAAGAGTCATTTTCTATCGGCTTTGGACTTCTGCTATGAAATGGCAATTCCTTTGAGCCAGTCTGTCTAAAGTCGGCAGCAAAGGAGAAGCAGATGAAGGGAGTAGAAAAGGTAGAGGTGGAAATACAACCAGAGAAAATT	pathogenic	13,795
The genetic variant at chromosome 1, position 119415544, affecting gene HSD3B2: benign or pathogenic? Disease name(s) if pathogenic?	pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency']	TGAAGTGCTTATGGCATTTCCACCAACATAGACCATAGGCTGGACCATAAAACAAATCTCAATATATATCAAAGAATCAAAATCATACAGAGTATATGCTCTGGCCACAATAATATTTAATTAGAAATACATAACAATAAGAAAATCCCCAGTTTTAGAAAACATGCAACATGCTTCTCAATAACACTTGGGTCAAAGAAGACATCACAAGAAAAAATTCAAAACGTCAGTAACTGAATAATGATAACCCAATGCATCAAAATGTTGGATACAGCTAACATAGTGTTTAGAGAGAAATTTACAACTTTAAATGCCTATGGTGGAAATGAGCAAAGAAGTAAAGTCAATTATCTATGCTTTTATCATAAGAACCCTGAAAAAGAAGAGTAAAATAAACCCAAAGTTAATAAACATTTAAGCCAATAATAAAAATAATGAAAATCATGAAATAGAAAAATGAACAAACAATAGAGACAATCAGTGGTCAATTTTTCTGTACTCCATGAACAAAACTTCAGTTCAGAATGATTTTATATTTAAATATATATCCAGAATCACAAAGATCTTAGAAGAAAAAATTAGGAAAATATAGGAATAAAGTGGGAACTCTGTGGGAATAAAAATCAGAAAGTAATTGCCTACCAGGTAAACTCGGGGGAGGGCAGGCAATTGACTAAGAACAGGCAGATAAAACTTTCTGGAGTGAAGGAAATGGTGGTCTTCTTTTCGTTGGTACTTACATGGACATATATAACTGTCAAGGTTCATTGACAATGAACACTTAAGTGTACACTGAACGCTTAAGATCTGGGCCTTGTAATGCCCAGATTACATCTACTTAAAAAAACTACATCTCTATTTTTTTAAGTAGAGAAAAGTGTCTTGGGGAGTTTATGGCAGTGATGTTTGGGCAGACTGGGGCATAGGTTTCAGAAGCATTCATAGCATCTTCAGTTCAACAATTTGCTAAGAATGGTTTTGCAGCCAAAAATGTAAGATGAGTGCAAATATCTATGATTAGAGTCATTGGGCATACAACTACAAATCCCCACACTTGTATTACAGGCCATATGATTAATTCGTTATCACTAGATACCTTTCCTTCAATGAGGTTCTTCCATTAGGAACCCAGAGCTCTCCAGGGAAAAATTGCAATTGAGGTTTTGGATATATTGGGTGGAAAAGAAAGTCACCTCACATAAAACTTAGTGATTGGAGCTGTCACCATTGAAAATTTCTAAACTTTGCAAGACAGCAGTGACGTTTCAAATGACACTCTCAGAGAGTTGATAATGGGCTAAAATAGATCTCCCTCCAGGTGGATTTACTGTACAAGGACAACATTTACATTGCACTTGGAGACTTCTCCCAGTTTGGTTTAAGTTCACAGATTGCAGATCCCAGACAGCTGGTATCAACTGACCAGTGTTCTGTTAAGGCTAAAGCCAAGACTCTTTATCACACTGTGGCCTTAAGATTGGATTTCTCTTCCTGTTCCTGGGAAGAATTAGAGATATAACCTAAAGGTCACTATTATTCTGAGAAAAGGGATTCTGGAGGAGGAGGGAGCAATGAGTATGTGGCAGGAGTTCAAGGTAATAAGGGCTGAGACACAAGCCACAGAGCATAAAGCTCCAGTCCTTCCTCCAGGGATGAGGCAGTAAGGACTTGGACTCCTCTGTCCAGCTTTTAACAATCTAAGTTACGGTTAGAGCTTTCTCCTTTTCTTTCAACTACTCCTGGCAGTTGTGGGGTCATGGAATTTTTGTAAAAAATGGGGTGGAGGAAAATAAGGCATCTGCTGAGTGTATAACCATTTTACCTCTTGTTTTTAGCCCTCTTCTGGGTCACGCTAGAATCAGATCTGCTCTCCAGCATCTTCTGTTTCCTGGCAAGTGTTTCCTGCTACTTTGGATTGGCCACGATGGGCTGGAGCTGCCTTGTGACAGGAGCAGGAGGGCTTCTGGGTCAGAGGATCGTCCGCCTGTTGGTGGAAGAGAAGGAACTGAAGGAGATCAGGGCCTTGGACAAGGCCTTCAGACCAGAATTGAGAGAGGAATTTTCTAGTAAGTAAACTTGAGTCATGGGTCTGTGGCTCCATCTTAAACTCTGCATGGGTGTGGGGAGGTTGACCTTGTCTAGCAAGTTAAGGAAAGTTGTAGCCAAATGAAAGCCAGTCACACATCTAAAGTCATCAGAAAGGAAATAGAATAAAATGGTATAGTGTGAAAGATACTGGATGGGGTGTCCAGAGACTGGATTCTGGCCCTGACGCAGAACTTGAGAGGCAGCCATGTCAGCCTCAAGGCCCCTTTTCTTCTCTTCTAGAGAGTCACACATGAGTTCTCCTTCTTGTCTACAACTCTTATGTTCTGAAGCTTTTTGTCTTGGCGATTGCTGTGCGACATTCACAAAGGACATCATTTACCTGGAGACCTCACCAGTGGGTCCTGCCTGTCTAGACTGCCCCAGGCTTCATTTCATTTTATAGCTTCCTTAGTATCTTTAGTGAGGGCAAAATAAAAGGAAGTGAAGGTACGGATGTGTGTGTAATTGTGTGTGTGTGTCAGACAGAGAAAGAAAATGAGGGGGAAAGAAGGTCAGAGACAGAGAATGAGAAAGACAGAGAATGAATGAGAAAGATAGTGTGAGGGAGAGCATCAGCAAGAGAGAGAGAGTGAAAGTGAGAGAGATCATCAGTGAGAGAGAGAGAAAGAGAGAAAGAGAGCATGCACAAGTGCACGGCACAGAGCAGAGACAGAGTAAAAGGCAGTATGAGGCCAACATGCCTCATTTATATTTCTCATATATAGCCTTTTTAAAAAAAAACCATTTGTATCTGTTGTTCAATACTCCAAATAAATTGACTGCAGAATTTGCTGTAGTAACTCTTTGTGCAAATAACCCTGTGAGGAAGGTAGAAAAGGGGTCACCTCCAACTGGACAATGAACCCATCAAGTTCCAGAAACATAAAGTTACTTGCCAAGAACAGCTGATTAATGTGTAGCAGAGCTCAGACCAGAGCTTCATTCCAGAAGCTTCATCACTTGACCCCCGGGCTAATCCTTGGTGGGTCTTCAGTCTCTCCCTTTGCCTCTCTGTGTGCCCCAAACCAATTCCATGTTTTCCTCCCAACCCAGGGGACTGGGGGAACTATGTATCTTCTTCATGCAGGTTCTGGCTGCCTAGAAGGTCCTGCCCTGTTCACACAGAAGCTCCCCTTGACACTCTCCTCTTCTTTCACTCTTCTCTGACCTCTTTAAATGTCCAATTTCCTCCACTCTCTGTTCTAATAGTGAACAGATATTAACACATGACTGATATTAAATGTTTGTAATCCTTATGTCTCAGCAATATTTACAATCTAACATCTGATACCAGGAAAAAGCAATGCTCAGTCTAGAGGAAGAGTTCTGCTATGGTGAAAATGCAGGGAGCATAATGGATGGGCAGGGCCTGTATGAAGATAAAAACAGAGAATCCTTTCAGTGTTCTTTCTGTGCCAGGCACTGTGCTAAAGGTTTTGCATGTGCTGACTCATTTACTTCCCATAACAACCCTATGAGATGGGTAATACTATTATCCTCCTTTTTTATAGATGAGGAGACAGACACAGAGAGGTTAATCAACTTGTCGAAGGTCCCAAGTTAGATTACGGCAAAGCTGGATTTGAATCCAGGCAGTCTAGTGCAGCTTCTGTGCTCTTAAGTAGTAGTTTGTCTAGCAGCTTCTCTGAGCCTCCCTCCAGCCCAACACACAACACAAAAGCAACTGAATTTAGTCTACATGAAACACTTGCCAAGTCCACAGTGCCTTGGAGAAGGAGGGAGCTAAGACTCCATCAAAAATTGCGCTTTTCTGGTCTCTCTAGATCCATGGAAACTCACCGGGGAAGAGTCATTTTCTATCGGCTTTGGACTTCTGCTATGAAATGGCAATTCCTTTGAGCCAGTCTGTCTAAAGTCGGCAGCAAAGGAGAAGCAGATGAAGGGAGTAGAAAAGGTAGAGGTGGAAATACAACCAGAGAAAATTCCACTCTCGGGCTGACACCCACCTCCTCCCCAGCAGCCTCTTCCCTGCCTCCACCATTCCAGG	TGAAGTGCTTATGGCATTTCCACCAACATAGACCATAGGCTGGACCATAAAACAAATCTCAATATATATCAAAGAATCAAAATCATACAGAGTATATGCTCTGGCCACAATAATATTTAATTAGAAATACATAACAATAAGAAAATCCCCAGTTTTAGAAAACATGCAACATGCTTCTCAATAACACTTGGGTCAAAGAAGACATCACAAGAAAAAATTCAAAACGTCAGTAACTGAATAATGATAACCCAATGCATCAAAATGTTGGATACAGCTAACATAGTGTTTAGAGAGAAATTTACAACTTTAAATGCCTATGGTGGAAATGAGCAAAGAAGTAAAGTCAATTATCTATGCTTTTATCATAAGAACCCTGAAAAAGAAGAGTAAAATAAACCCAAAGTTAATAAACATTTAAGCCAATAATAAAAATAATGAAAATCATGAAATAGAAAAATGAACAAACAATAGAGACAATCAGTGGTCAATTTTTCTGTACTCCATGAACAAAACTTCAGTTCAGAATGATTTTATATTTAAATATATATCCAGAATCACAAAGATCTTAGAAGAAAAAATTAGGAAAATATAGGAATAAAGTGGGAACTCTGTGGGAATAAAAATCAGAAAGTAATTGCCTACCAGGTAAACTCGGGGGAGGGCAGGCAATTGACTAAGAACAGGCAGATAAAACTTTCTGGAGTGAAGGAAATGGTGGTCTTCTTTTCGTTGGTACTTACATGGACATATATAACTGTCAAGGTTCATTGACAATGAACACTTAAGTGTACACTGAACGCTTAAGATCTGGGCCTTGTAATGCCCAGATTACATCTACTTAAAAAAACTACATCTCTATTTTTTTAAGTAGAGAAAAGTGTCTTGGGGAGTTTATGGCAGTGATGTTTGGGCAGACTGGGGCATAGGTTTCAGAAGCATTCATAGCATCTTCAGTTCAACAATTTGCTAAGAATGGTTTTGCAGCCAAAAATGTAAGATGAGTGCAAATATCTATGATTAGAGTCATTGGGCATACAACTACAAATCCCCACACTTGTATTACAGGCCATATGATTAATTCGTTATCACTAGATACCTTTCCTTCAATGAGGTTCTTCCATTAGGAACCCAGAGCTCTCCAGGGAAAAATTGCAATTGAGGTTTTGGATATATTGGGTGGAAAAGAAAGTCACCTCACATAAAACTTAGTGATTGGAGCTGTCACCATTGAAAATTTCTAAACTTTGCAAGACAGCAGTGACGTTTCAAATGACACTCTCAGAGAGTTGATAATGGGCTAAAATAGATCTCCCTCCAGGTGGATTTACTGTACAAGGACAACATTTACATTGCACTTGGAGACTTCTCCCAGTTTGGTTTAAGTTCACAGATTGCAGATCCCAGACAGCTGGTATCAACTGACCAGTGTTCTGTTAAGGCTAAAGCCAAGACTCTTTATCACACTGTGGCCTTAAGATTGGATTTCTCTTCCTGTTCCTGGGAAGAATTAGAGATATAACCTAAAGGTCACTATTATTCTGAGAAAAGGGATTCTGGAGGAGGAGGGAGCAATGAGTATGTGGCAGGAGTTCAAGGTAATAAGGGCTGAGACACAAGCCACAGAGCATAAAGCTCCAGTCCTTCCTCCAGGGATGAGGCAGTAAGGACTTGGACTCCTCTGTCCAGCTTTTAACAATCTAAGTTACGGTTAGAGCTTTCTCCTTTTCTTTCAACTACTCCTGGCAGTTGTGGGGTCATGGAATTTTTGTAAAAAATGGGGTGGAGGAAAATAAGGCATCTGCTGAGTGTATAACCATTTTACCTCTTGTTTTTAGCCCTCTTCTGGGTCACGCTAGAATCAGATCTGCTCTCCAGCATCTTCTGTTTCCTGGCAAGTGTTTCCTGCTACTTTGGATTGGCCACGATGGGCTGGAGCTGCCTTGTGACAGGAGCAGGAGGGCTTCTGGGTCAGAGGATCGTCCGCCTGTTGGTGGAAGAGAAGGAACTGAAGGAGATCAGGGCCTTGGACAAGGCCTTCAGACCAGAATTGAGAGGAATTTTCTAGTAAGTAAACTTGAGTCATGGGTCTGTGGCTCCATCTTAAACTCTGCATGGGTGTGGGGAGGTTGACCTTGTCTAGCAAGTTAAGGAAAGTTGTAGCCAAATGAAAGCCAGTCACACATCTAAAGTCATCAGAAAGGAAATAGAATAAAATGGTATAGTGTGAAAGATACTGGATGGGGTGTCCAGAGACTGGATTCTGGCCCTGACGCAGAACTTGAGAGGCAGCCATGTCAGCCTCAAGGCCCCTTTTCTTCTCTTCTAGAGAGTCACACATGAGTTCTCCTTCTTGTCTACAACTCTTATGTTCTGAAGCTTTTTGTCTTGGCGATTGCTGTGCGACATTCACAAAGGACATCATTTACCTGGAGACCTCACCAGTGGGTCCTGCCTGTCTAGACTGCCCCAGGCTTCATTTCATTTTATAGCTTCCTTAGTATCTTTAGTGAGGGCAAAATAAAAGGAAGTGAAGGTACGGATGTGTGTGTAATTGTGTGTGTGTGTCAGACAGAGAAAGAAAATGAGGGGGAAAGAAGGTCAGAGACAGAGAATGAGAAAGACAGAGAATGAATGAGAAAGATAGTGTGAGGGAGAGCATCAGCAAGAGAGAGAGAGTGAAAGTGAGAGAGATCATCAGTGAGAGAGAGAGAAAGAGAGAAAGAGAGCATGCACAAGTGCACGGCACAGAGCAGAGACAGAGTAAAAGGCAGTATGAGGCCAACATGCCTCATTTATATTTCTCATATATAGCCTTTTTAAAAAAAAACCATTTGTATCTGTTGTTCAATACTCCAAATAAATTGACTGCAGAATTTGCTGTAGTAACTCTTTGTGCAAATAACCCTGTGAGGAAGGTAGAAAAGGGGTCACCTCCAACTGGACAATGAACCCATCAAGTTCCAGAAACATAAAGTTACTTGCCAAGAACAGCTGATTAATGTGTAGCAGAGCTCAGACCAGAGCTTCATTCCAGAAGCTTCATCACTTGACCCCCGGGCTAATCCTTGGTGGGTCTTCAGTCTCTCCCTTTGCCTCTCTGTGTGCCCCAAACCAATTCCATGTTTTCCTCCCAACCCAGGGGACTGGGGGAACTATGTATCTTCTTCATGCAGGTTCTGGCTGCCTAGAAGGTCCTGCCCTGTTCACACAGAAGCTCCCCTTGACACTCTCCTCTTCTTTCACTCTTCTCTGACCTCTTTAAATGTCCAATTTCCTCCACTCTCTGTTCTAATAGTGAACAGATATTAACACATGACTGATATTAAATGTTTGTAATCCTTATGTCTCAGCAATATTTACAATCTAACATCTGATACCAGGAAAAAGCAATGCTCAGTCTAGAGGAAGAGTTCTGCTATGGTGAAAATGCAGGGAGCATAATGGATGGGCAGGGCCTGTATGAAGATAAAAACAGAGAATCCTTTCAGTGTTCTTTCTGTGCCAGGCACTGTGCTAAAGGTTTTGCATGTGCTGACTCATTTACTTCCCATAACAACCCTATGAGATGGGTAATACTATTATCCTCCTTTTTTATAGATGAGGAGACAGACACAGAGAGGTTAATCAACTTGTCGAAGGTCCCAAGTTAGATTACGGCAAAGCTGGATTTGAATCCAGGCAGTCTAGTGCAGCTTCTGTGCTCTTAAGTAGTAGTTTGTCTAGCAGCTTCTCTGAGCCTCCCTCCAGCCCAACACACAACACAAAAGCAACTGAATTTAGTCTACATGAAACACTTGCCAAGTCCACAGTGCCTTGGAGAAGGAGGGAGCTAAGACTCCATCAAAAATTGCGCTTTTCTGGTCTCTCTAGATCCATGGAAACTCACCGGGGAAGAGTCATTTTCTATCGGCTTTGGACTTCTGCTATGAAATGGCAATTCCTTTGAGCCAGTCTGTCTAAAGTCGGCAGCAAAGGAGAAGCAGATGAAGGGAGTAGAAAAGGTAGAGGTGGAAATACAACCAGAGAAAATTCCACTCTCGGGCTGACACCCACCTCCTCCCCAGCAGCCTCTTCCCTGCCTCCACCATTCCAGGNN	pathogenic	13,797
Considering the genetic mutation at chromosome 1, position 119422056, impacting HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency']	GTAGGCTGATGAGAACATTCAGAGTCTTCCTGCCCACCTCAAAGAAGTCCTCTCAAGAGAACTAGCAAAGCTGGTTCACAGAGGTCTGTCAGGACAGAATTATCCAGCACATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCCAGTGTCCAGAATACAATCTCTTCAGCTCACCACAGGGTCTACTATTACAGAGCCATTTCCTGCCAGGTGCCCAAAGTGCACCCTCATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAG	GTAGGCTGATGAGAACATTCAGAGTCTTCCTGCCCACCTCAAAGAAGTCCTCTCAAGAGAACTAGCAAAGCTGGTTCACAGAGGTCTGTCAGGACAGAATTATCCAGCACATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCCAGTGTCCAGAATACAATCTCTTCAGCTCACCACAGGGTCTACTATTACAGAGCCATTTCCTGCCAGGTGCCCAAAGTGCACCCTCATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAA	pathogenic	13,810
Variant in gene HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2), located at chromosome 1 position 119422290: benign or pathogenic? What disease(s) does it cause if pathogenic?	pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency']	CATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTA	CATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTANNNNN	pathogenic	13,822
The chromosome 1, position 119422317 genetic variant in gene HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2): benign or pathogenic? If pathogenic, indicate disease(s).	pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency', 'Congenital_adrenal_hyperplasia']	CTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTACTATTATTCCTATTATAAACAATAGTT	CTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTACTATTATTCCTATTATAAACAATAGTTNN	pathogenic	13,823
Is the genetic change at chromosome 1, position 119422348, within gene HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2) benign or pathogenic? Name the disease(s) if pathogenic.	pathogenic; ['Congenital_adrenal_hyperplasia']	GAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTACTATTATTCCTATTATAAACAATAGTTTCTACCACCATGTTCCCCAGGATCCAAGCCA	GAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTACTATTATTCCTATTATAAACAATAGTTTCTACCACCATGTTCCCCAGGATCCAAGCCAN	pathogenic	13,824
Evaluate if the mutation on chromosome 1 at position 119422367 in HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2) is benign or pathogenic. Disease name(s) if pathogenic?	pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency']	CACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTACTATTATTCCTATTATAAACAATAGTTTCTACCACCATGTTCCCCAGGATCCAAGCCAACCACTCAACCAATCGATT	CACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTACTATTATTCCTATTATAAACAATAGTTTCTACCACCATGTTCCCCAGGATCCAAGCCAACCACTCAACCAATCGATTN	pathogenic	13,825
Benign or pathogenic: chromosome 1, position 119735314, gene PHGDH (phosphoglycerate dehydrogenase) variant? Disease(s) if pathogenic?	pathogenic; ['Neu-Laxova_syndrome_1', 'PHGDH_deficiency']	ATAACCATTTTAGCTTCTGCCCTAGAATTACTGAATTTGAAGTCCTCTTTCCTATTACGTTCTTTTTTATTTTGTTTTATTTTTTTTTTTTTTTCTGAGACATCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCAACCTCCTAGGCCCAAGTGATCCTCCTGCCTCAGCCTTCTGGGTGGCACAGGTGCATGCCACCAAACTTGGCTAGTTTTTTAAATTTTTTGTAGGGGGGGGGGTCTGACTATGTTTCTCCAGCTAGTCTCTGACTCCTGGGGTCAAATGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCAATGGCACCCATCTTTCCCATTATATTCTAAAGTATCTATACTGTATCCCTAATTTCAAAAGTAATTTATGAATAATGTAGTAGAAAACTTGAAAGCACAGGAAAGCAAAAAGGAGAAAAATAATTCCACTACCCAGAGACAACCGCTGTTAAAGTACTATGCTGTGTATTCTTTGTTTTTGTCTAATCCTGGGCTCACTCTTTACATTCTGTCTCGGGGTTAAGGGGGATTTCTCTTCAAATAATTCCCAGTGATTGAATGTGAGAGTGAGAGATGGCTGCAATCATCTGCCCAGCTCCTTTATTTAGGGTTGAGGACCCAGGTCCAGGGGAACTGACCTGTACCTTTCCACACAGTGGGCAGTGACTGGGGGAGGACACAGGTCAGGCTTCCTGATTTAGAGGGCATGCAGTCTTGCTCCCACTCTGGGTCCTGCCTTGTACCCCTGTTGTCCTCCTCCTTCGCTTCTGCTCACTCTGTTTTAGTACCTGATGCACCTGTTTCCTGGACTGGACCCTCCAGCTGCAGCTGCCATTTCTCCTTCTCCCTTTCCTGGCTGTCCGCTCCCTACATGACTGCCCTCCCTCCCTCAGGACTCCCTGCTTTCTAAGGACTTCCAAGCTCCACCTTGTCCAGACCTATATGAGCTATTGTTGCATCTGTGTGTGATCACAGCATGGAGGCAGACGCACCTTCTTTTGAGCTCTGGCTGTGCCCCTCCTCATTGTGGAAGCCCTGCTTCCCTCAGCTCTCAAGCAGACAAGAACAGTCCCAGCATCATTGTGTGGTCATGAGAATTAATTAAGCTGATCATGGTACTTAGTATATGGTAAATAGTACTTAGTATGTGGAACATGGTACTTAGTGTATGGTAAATTAACTGGAGAATTAATTAAGCTGAGCATGGTAGTTAGTATATGGTAAATGCTCAAAAAATGTTTGCCATTCTTAATAATAACAATACTAATAATTAAGAATGACACTTCCTCCCTCTCTCTTGCTTCCAACCAGACTATAGGGTATGACCCCATCATTTCCCCAGAGGTCTCGGCCTCCTTTGGTGTTCAGCAGCTGCCCCTGGAGGAGATCTGGCCTCTCTGTGATTTCATCACTGTGCACACTCCTCTCCTGCCCTCCACGACAGGTAGGTGTGTCCTTACATTGTGGATTGGTCACAGAAGCCACAGACCAGTTAACAAATGGGCCCTCCATCTGGGCCTTCCCCAGACAGTGGTAACCAGCTGTGGGGAGAGGTCCACCTGGGTCCTGCAGAGGCTGGTGTTTTGTTAGACACCCCTACGTTGGATAGGGGAGGGTGAGCCAGCTAGAAGTGCTTGGGGTCTAGGTAAGCTGGGCACAGGGACAACCAGTGACCCCCATGGATGCTTTCTGCAGCCCCTGCAGGGCTTTCTGATTCCCAGACCCACTTGAAACAGTAATATCTCAAGAATTTCTAAGATGTTTCTAAACTGAGTCTGGCCCAGATCCATAACAGGGACTCCTGCCCCAGAGCATCTGAGGAGGAAGAGATGAGAGCAAAGAGGCTGCCGTCCAGCAGGAGAGAGGCTCTGGGAAAGAGCTGGCTCAAGGAAAGGGAAGACCTCTGGAAGCCAGGGATGAGCGTGGGGATCCTGGTGCTGCCCCAGCAGGAAGATGCTTCGCTTTCTTCCAGGCTTGCTGAATGACAACACCTTTGCCCAGTGCAAGAAGGGGGTGCGTGTGGTGAACTGTGCCCGTGGAGGGATCGTGGACGAAGGCGCCCTGCTCCGGGCCCTGCAGTCTGGCCAGTGTGCCGGGGCTGCACTGGACGTGTTTACGGAAGTAAGTGCCTGGCAGCCTCAGCGTCAGGAGGACGGGAGAGATAGGGAGCAGAGAGGCCCATGGCAGGGAAAGCCTGGCGTTTTACAGAAAGCCTCTAGCTTATTGTCTCTTTCATCCATGGTAAAAGGAGAAAACTGTGTTGCCAAAAACACACCTTTGTGGTTTGAGGAGTCCTTGCGGAGCCTGGTATGGAGGCAGCTATGTGGTTTTCTGCAAAACTCGGGCTTTAAAGGGGACCCAGTTCCTGGTTCCGGGCTTCTCAGACTGCTAACATATTGACAAAGATAAAGCCACAAATCAGTTCTGAAGTTGAGGGTCTGGAGCAGGAAGAGAGGGGGCTTTAGTGTATAGTTGAGGGACCCTGATGGAAATGCAGTCCCATTGCCAAGAAAATGTCCTTTTCAGTGTCCATGGGCATTCTTTTTCCCTTCTTCTCTTGCTGGGTGGACAGAAGCCCGAGGATACTGGCAGTATTCCCTCAGGGTCCTCGGGGTGGGCTGCTTTCCCAGCTGGAGCAGAGGCTCAGCCTCACACCAGATCCAGTAGGGAAGAGTGCATTTGCACTCGAATCCTTTTGGCTCCTCTCCTGAAAGATCCTGTCCCCAACATTGGAGCTTCCCCTGGTGAGGAAGGGGAAAGGACATGGACTTTGGATTAGGTAGTTGTGGTTCGCAGGTTACTAGCTGTGTGTCCTTGGAAGGTCACTGGCCCTCTCTGAGCCCCTGTAGCACTCACTGTGTACTCCCAGCCCAGGGCACACAGTGCCTTTTGGTTTGTAACCTTGGTCATCTTTCTCAGCTCTTAGATCATAAGCTCCCTGAAGGCAGGGCAAGCCTTGTCCATCTTTGTATCACCATCCTCCCTAACACAGCACCTTCTCCTGCTCTCTTCAGCATCCTTGAACCACTTGCTGGTGGTACTTACATGGTTACATGTGGCCGGGACTCACAGGATTACATGGTTACATGTGGCCAGGACTCACAGGGTTAAATGGTCAAAATTCAATGGGACCAACAGAGCCCTGAGGAGAATGGCCGGAAGATGCCTAAATAACATACCCAAGGGCAATCTTCTCAGTGAGCAGAAGGGTGGAAAAGACACTGGAGGGTGGGGTGGAGGTGCCACAGATGGGCAACCTGTCCTGATGAGAGCCAAGATGCAGTTACCTGCGTGGAGTGTCTTGGAAGAGCAGGACACTGTGCTAAAAGTCCAGCAAGGCACATCGACAGCAAGTGCTGCATGGATGCAGGGGGGTGAGTTTCGGGGAAAAGCCCAGTAACAACAACAACAGTAGCTCCTATTGGTCAAGGGCCTCCCATGTTAAAGGTGCATAATCCCCACAGTAATGTTATGAGGGAGATAGGATCAACCCATTTCACAGATAAAGAAACTGAGGCTTAGATCAAGGTTCACCCCCAAGGCACCTAGGTGGTTAAGTGGTGAAGGTGAGATTTGAATCTGGTTCACACTTTGTGCTGTGTCCACTCTGCTGAGATGGAACATTCATGTGGAAGCCCATTATTGAGTCCAGTGACCACCCTGACAAAATAGAAGTGGAAGGCACCAGAACTCCTGACTGCCTTCCCTCCAACTTTCCTGTTGCCTGGGGTGGCCCAAGAGGGTGTGGCCAGTCCATGGCAGCCAACTTAGAGGTATCTCTTTCTGGGCAGGAGCCGCCACGGGACCGGGCCTTGGTGGACCATGAGAATGTCATCAGCTGTCCCCACCTGGGTGCCAGCACCAAGGAGGCTCAGAGCCGCTGTGGGGAGGAAATTGCTGTTCAGTTCGTGGACATGGTGAAGGGGAAATCTCTCACGGGGGTTGTAAGTATCACCACCTGGGGCTGGGGGCCAGGAGTCAGAGGGAGGAGAGGAAGGAAGGCATCTTGTAGGGGCTGGTGGCAGCGTGGGTGAATAGA	ATAACCATTTTAGCTTCTGCCCTAGAATTACTGAATTTGAAGTCCTCTTTCCTATTACGTTCTTTTTTATTTTGTTTTATTTTTTTTTTTTTTTCTGAGACATCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCAACCTCCTAGGCCCAAGTGATCCTCCTGCCTCAGCCTTCTGGGTGGCACAGGTGCATGCCACCAAACTTGGCTAGTTTTTTAAATTTTTTGTAGGGGGGGGGGTCTGACTATGTTTCTCCAGCTAGTCTCTGACTCCTGGGGTCAAATGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCAATGGCACCCATCTTTCCCATTATATTCTAAAGTATCTATACTGTATCCCTAATTTCAAAAGTAATTTATGAATAATGTAGTAGAAAACTTGAAAGCACAGGAAAGCAAAAAGGAGAAAAATAATTCCACTACCCAGAGACAACCGCTGTTAAAGTACTATGCTGTGTATTCTTTGTTTTTGTCTAATCCTGGGCTCACTCTTTACATTCTGTCTCGGGGTTAAGGGGGATTTCTCTTCAAATAATTCCCAGTGATTGAATGTGAGAGTGAGAGATGGCTGCAATCATCTGCCCAGCTCCTTTATTTAGGGTTGAGGACCCAGGTCCAGGGGAACTGACCTGTACCTTTCCACACAGTGGGCAGTGACTGGGGGAGGACACAGGTCAGGCTTCCTGATTTAGAGGGCATGCAGTCTTGCTCCCACTCTGGGTCCTGCCTTGTACCCCTGTTGTCCTCCTCCTTCGCTTCTGCTCACTCTGTTTTAGTACCTGATGCACCTGTTTCCTGGACTGGACCCTCCAGCTGCAGCTGCCATTTCTCCTTCTCCCTTTCCTGGCTGTCCGCTCCCTACATGACTGCCCTCCCTCCCTCAGGACTCCCTGCTTTCTAAGGACTTCCAAGCTCCACCTTGTCCAGACCTATATGAGCTATTGTTGCATCTGTGTGTGATCACAGCATGGAGGCAGACGCACCTTCTTTTGAGCTCTGGCTGTGCCCCTCCTCATTGTGGAAGCCCTGCTTCCCTCAGCTCTCAAGCAGACAAGAACAGTCCCAGCATCATTGTGTGGTCATGAGAATTAATTAAGCTGATCATGGTACTTAGTATATGGTAAATAGTACTTAGTATGTGGAACATGGTACTTAGTGTATGGTAAATTAACTGGAGAATTAATTAAGCTGAGCATGGTAGTTAGTATATGGTAAATGCTCAAAAAATGTTTGCCATTCTTAATAATAACAATACTAATAATTAAGAATGACACTTCCTCCCTCTCTCTTGCTTCCAACCAGACTATAGGGTATGACCCCATCATTTCCCCAGAGGTCTCGGCCTCCTTTGGTGTTCAGCAGCTGCCCCTGGAGGAGATCTGGCCTCTCTGTGATTTCATCACTGTGCACACTCCTCTCCTGCCCTCCACGACAGGTAGGTGTGTCCTTACATTGTGGATTGGTCACAGAAGCCACAGACCAGTTAACAAATGGGCCCTCCATCTGGGCCTTCCCCAGACAGTGGTAACCAGCTGTGGGGAGAGGTCCACCTGGGTCCTGCAGAGGCTGGTGTTTTGTTAGACACCCCTACGTTGGATAGGGGAGGGTGAGCCAGCTAGAAGTGCTTGGGGTCTAGGTAAGCTGGGCACAGGGACAACCAGTGACCCCCATGGATGCTTTCTGCAGCCCCTGCAGGGCTTTCTGATTCCCAGACCCACTTGAAACAGTAATATCTCAAGAATTTCTAAGATGTTTCTAAACTGAGTCTGGCCCAGATCCATAACAGGGACTCCTGCCCCAGAGCATCTGAGGAGGAAGAGATGAGAGCAAAGAGGCTGCCGTCCAGCAGGAGAGAGGCTCTGGGAAAGAGCTGGCTCAAGGAAAGGGAAGACCTCTGGAAGCCAGGGATGAGCGTGGGGATCCTGGTGCTGCCCCAGCAGGAAGATGCTTCGCTTTCTTCCAGGCTTGCTGAATGACAACACCTTTTTGCCCAGTGCAAGAAGGGGGTGCGTGTGGTGAACTGTGCCCGTGGAGGGATCGTGGACGAAGGCGCCCTGCTCCGGGCCCTGCAGTCTGGCCAGTGTGCCGGGGCTGCACTGGACGTGTTTACGGAAGTAAGTGCCTGGCAGCCTCAGCGTCAGGAGGACGGGAGAGATAGGGAGCAGAGAGGCCCATGGCAGGGAAAGCCTGGCGTTTTACAGAAAGCCTCTAGCTTATTGTCTCTTTCATCCATGGTAAAAGGAGAAAACTGTGTTGCCAAAAACACACCTTTGTGGTTTGAGGAGTCCTTGCGGAGCCTGGTATGGAGGCAGCTATGTGGTTTTCTGCAAAACTCGGGCTTTAAAGGGGACCCAGTTCCTGGTTCCGGGCTTCTCAGACTGCTAACATATTGACAAAGATAAAGCCACAAATCAGTTCTGAAGTTGAGGGTCTGGAGCAGGAAGAGAGGGGGCTTTAGTGTATAGTTGAGGGACCCTGATGGAAATGCAGTCCCATTGCCAAGAAAATGTCCTTTTCAGTGTCCATGGGCATTCTTTTTCCCTTCTTCTCTTGCTGGGTGGACAGAAGCCCGAGGATACTGGCAGTATTCCCTCAGGGTCCTCGGGGTGGGCTGCTTTCCCAGCTGGAGCAGAGGCTCAGCCTCACACCAGATCCAGTAGGGAAGAGTGCATTTGCACTCGAATCCTTTTGGCTCCTCTCCTGAAAGATCCTGTCCCCAACATTGGAGCTTCCCCTGGTGAGGAAGGGGAAAGGACATGGACTTTGGATTAGGTAGTTGTGGTTCGCAGGTTACTAGCTGTGTGTCCTTGGAAGGTCACTGGCCCTCTCTGAGCCCCTGTAGCACTCACTGTGTACTCCCAGCCCAGGGCACACAGTGCCTTTTGGTTTGTAACCTTGGTCATCTTTCTCAGCTCTTAGATCATAAGCTCCCTGAAGGCAGGGCAAGCCTTGTCCATCTTTGTATCACCATCCTCCCTAACACAGCACCTTCTCCTGCTCTCTTCAGCATCCTTGAACCACTTGCTGGTGGTACTTACATGGTTACATGTGGCCGGGACTCACAGGATTACATGGTTACATGTGGCCAGGACTCACAGGGTTAAATGGTCAAAATTCAATGGGACCAACAGAGCCCTGAGGAGAATGGCCGGAAGATGCCTAAATAACATACCCAAGGGCAATCTTCTCAGTGAGCAGAAGGGTGGAAAAGACACTGGAGGGTGGGGTGGAGGTGCCACAGATGGGCAACCTGTCCTGATGAGAGCCAAGATGCAGTTACCTGCGTGGAGTGTCTTGGAAGAGCAGGACACTGTGCTAAAAGTCCAGCAAGGCACATCGACAGCAAGTGCTGCATGGATGCAGGGGGGTGAGTTTCGGGGAAAAGCCCAGTAACAACAACAACAGTAGCTCCTATTGGTCAAGGGCCTCCCATGTTAAAGGTGCATAATCCCCACAGTAATGTTATGAGGGAGATAGGATCAACCCATTTCACAGATAAAGAAACTGAGGCTTAGATCAAGGTTCACCCCCAAGGCACCTAGGTGGTTAAGTGGTGAAGGTGAGATTTGAATCTGGTTCACACTTTGTGCTGTGTCCACTCTGCTGAGATGGAACATTCATGTGGAAGCCCATTATTGAGTCCAGTGACCACCCTGACAAAATAGAAGTGGAAGGCACCAGAACTCCTGACTGCCTTCCCTCCAACTTTCCTGTTGCCTGGGGTGGCCCAAGAGGGTGTGGCCAGTCCATGGCAGCCAACTTAGAGGTATCTCTTTCTGGGCAGGAGCCGCCACGGGACCGGGCCTTGGTGGACCATGAGAATGTCATCAGCTGTCCCCACCTGGGTGCCAGCACCAAGGAGGCTCAGAGCCGCTGTGGGGAGGAAATTGCTGTTCAGTTCGTGGACATGGTGAAGGGGAAATCTCTCACGGGGGTTGTAAGTATCACCACCTGGGGCTGGGGGCCAGGAGTCAGAGGGAGGAGAGGAAGGAAGGCATCTTGTAGGGGCTGGTGGCAGCGTGGGTGAATA	pathogenic	13,868
Is the variant located on chromosome 1 at position 119737221, gene PHGDH (phosphoglycerate dehydrogenase), benign or pathogenic? If pathogenic, specify the disease(s) linked.	pathogenic; ['Neu-Laxova_syndrome_1', 'PHGDH_deficiency']	TCCAGCAGGAGAGAGGCTCTGGGAAAGAGCTGGCTCAAGGAAAGGGAAGACCTCTGGAAGCCAGGGATGAGCGTGGGGATCCTGGTGCTGCCCCAGCAGGAAGATGCTTCGCTTTCTTCCAGGCTTGCTGAATGACAACACCTTTGCCCAGTGCAAGAAGGGGGTGCGTGTGGTGAACTGTGCCCGTGGAGGGATCGTGGACGAAGGCGCCCTGCTCCGGGCCCTGCAGTCTGGCCAGTGTGCCGGGGCTGCACTGGACGTGTTTACGGAAGTAAGTGCCTGGCAGCCTCAGCGTCAGGAGGACGGGAGAGATAGGGAGCAGAGAGGCCCATGGCAGGGAAAGCCTGGCGTTTTACAGAAAGCCTCTAGCTTATTGTCTCTTTCATCCATGGTAAAAGGAGAAAACTGTGTTGCCAAAAACACACCTTTGTGGTTTGAGGAGTCCTTGCGGAGCCTGGTATGGAGGCAGCTATGTGGTTTTCTGCAAAACTCGGGCTTTAAAGGGGACCCAGTTCCTGGTTCCGGGCTTCTCAGACTGCTAACATATTGACAAAGATAAAGCCACAAATCAGTTCTGAAGTTGAGGGTCTGGAGCAGGAAGAGAGGGGGCTTTAGTGTATAGTTGAGGGACCCTGATGGAAATGCAGTCCCATTGCCAAGAAAATGTCCTTTTCAGTGTCCATGGGCATTCTTTTTCCCTTCTTCTCTTGCTGGGTGGACAGAAGCCCGAGGATACTGGCAGTATTCCCTCAGGGTCCTCGGGGTGGGCTGCTTTCCCAGCTGGAGCAGAGGCTCAGCCTCACACCAGATCCAGTAGGGAAGAGTGCATTTGCACTCGAATCCTTTTGGCTCCTCTCCTGAAAGATCCTGTCCCCAACATTGGAGCTTCCCCTGGTGAGGAAGGGGAAAGGACATGGACTTTGGATTAGGTAGTTGTGGTTCGCAGGTTACTAGCTGTGTGTCCTTGGAAGGTCACTGGCCCTCTCTGAGCCCCTGTAGCACTCACTGTGTACTCCCAGCCCAGGGCACACAGTGCCTTTTGGTTTGTAACCTTGGTCATCTTTCTCAGCTCTTAGATCATAAGCTCCCTGAAGGCAGGGCAAGCCTTGTCCATCTTTGTATCACCATCCTCCCTAACACAGCACCTTCTCCTGCTCTCTTCAGCATCCTTGAACCACTTGCTGGTGGTACTTACATGGTTACATGTGGCCGGGACTCACAGGATTACATGGTTACATGTGGCCAGGACTCACAGGGTTAAATGGTCAAAATTCAATGGGACCAACAGAGCCCTGAGGAGAATGGCCGGAAGATGCCTAAATAACATACCCAAGGGCAATCTTCTCAGTGAGCAGAAGGGTGGAAAAGACACTGGAGGGTGGGGTGGAGGTGCCACAGATGGGCAACCTGTCCTGATGAGAGCCAAGATGCAGTTACCTGCGTGGAGTGTCTTGGAAGAGCAGGACACTGTGCTAAAAGTCCAGCAAGGCACATCGACAGCAAGTGCTGCATGGATGCAGGGGGGTGAGTTTCGGGGAAAAGCCCAGTAACAACAACAACAGTAGCTCCTATTGGTCAAGGGCCTCCCATGTTAAAGGTGCATAATCCCCACAGTAATGTTATGAGGGAGATAGGATCAACCCATTTCACAGATAAAGAAACTGAGGCTTAGATCAAGGTTCACCCCCAAGGCACCTAGGTGGTTAAGTGGTGAAGGTGAGATTTGAATCTGGTTCACACTTTGTGCTGTGTCCACTCTGCTGAGATGGAACATTCATGTGGAAGCCCATTATTGAGTCCAGTGACCACCCTGACAAAATAGAAGTGGAAGGCACCAGAACTCCTGACTGCCTTCCCTCCAACTTTCCTGTTGCCTGGGGTGGCCCAAGAGGGTGTGGCCAGTCCATGGCAGCCAACTTAGAGGTATCTCTTTCTGGGCAGGAGCCGCCACGGGACCGGGCCTTGGTGGACCATGAGAATGTCATCAGCTGTCCCCACCTGGGTGCCAGCACCAAGGAGGCTCAGAGCCGCTGTGGGGAGGAAATTGCTGTTCAGTTCGTGGACATGGTGAAGGGGAAATCTCTCACGGGGGTTGTAAGTATCACCACCTGGGGCTGGGGGCCAGGAGTCAGAGGGAGGAGAGGAAGGAAGGCATCTTGTAGGGGCTGGTGGCAGCGTGGGTGAATAGATTCAGCCCTGGGAGCTGAAGATAAGGGAAATCTGCTTGAGTCAGCACTCTCCGGAGCAGGTGGGCGGGAGCCTCCCGTCTCCAGCCTTGATAGCAGAGGCCTTGGCAGCAGAGAGCCCGGCTCAGGCCTGTTATATCGTAGTCTTGCTGCAGAGATTGTGGCCCTTCCCAGGCCCAGCCTCTAGAGAAAGGCTCCTTTGTTCTCCACATGCCGTGGGAGTGAAGGAGTGCTGCTTGGGTGCCAGCTGGACGCAGCCGCAGCAGGTGGGGATGTGGTTGGGGACGGCCATGTAGAAATTTGCACCCTGTAAGCTCCCCAGACCCTGCCTTGACAGCCTGCCCTACCTACTCCCAAATGAGCCCTCTGTGCTGGCTGACCCCCTTGCTTTCCCCAAATCAAGGCATAAGACCCCCACTTCTTGTCTTTGCTTCCATCAAGCCCTTCCTGGCATGTGCGTCTCCTACGAGCTTAACCTGACTTACACTTCAAGTCCTGTCTCATTCATTCAGTCTGTGGATATTCCTTAAGTTTCACTGGGTACCAGACATTGTCATAGCTCTTGGGAGACACGGGTGCATGAGGGAGGCATAGCTCTCCTTCCAGGGGCTTGCTGCCTCCTTCTGAAGTCTTGCTTGGCCTTTCCAGCCCCTTCTCAATTCTGAGAACCATGTTCTTTCTTGTTATTAAGGTTCAGTTCCATGGGGTGTTTTTTTTTTTCCCTAATCTTTCTACTTAACCTAAGTTCTAAGTTCCCTGAGGACAAAAAAACATGACTTAAGCCTCTCTGCAGCTTGTGTGGGTGGGCCCAGGCCATGGAGTCAAAGGGTCAGGAAAATGGGCTGGGTGTTCTTGGTTGTCCTGGCTGACCCTCAGCTGGGTGATTTTCGCTGGTGAGGACAGCACTGTGGCAGGAGAGACGGGGATTTTGGTTCTGCCCTCCCACCTCTGGATTGAGAGCCCAGCCCTCCAGGCCTCTCTGCCCCCTCCATCCTGAGGAAAGAAGGGTGCCTCCTGCTGCCCAGCAGCCCCACACAGTCCATGGAAGTCAGCAGGGCTATGACCAGCAGCATGCGAGGAGGTCAGCAGAGACTCTGACCTGTCTGCATCCTCTGTCCTCTATGCTGTGTGGGCTCCTCAGGGCAGAGCACACTTCACTCATCTTGCACCTGGTCGGCCTCTGAGCAGGTTCGTTCCTCCCAGGAGATGCTGCTCGTTTCCCAGGCTGAGGTTTGAGCTCATCACCATTGCCAGCCAATCTGGGCTTCAGGGTTTTACCCTTTCAGCCTTCTCAGAAAGCAGCTGTCTGCCTTCCCCATCGCAGCCTTGCAATTTATTGCCATTACCATTAGGTAGCAGTGACATTCCAGAGCTTTTCCTGAAAGGGACTCCTGAATATAAGCTCTGGCAGAGCGAGGGGGTGGGGGAGGGAGGGGGACCTTGCAGAGAGATGGGGAGGAGGGGGTGAGAGGTGTATGGGCTCTGCCCTGCTGGGTGTATCTGCTGCAGGACACAGAGTTCCATCAAATGGACCACACAGTGTCCCCATCTTAGGAGGTGAAACCTCTTGGTCAAAATAACTACCCTTAGCAAATTGAACTGTTCACCCACATCAGCAAATAGTCTTAGAGTAGCCATTTGGAAAAAGAGACATTTTTGTCACATAAGAAATATATTTTCCTAATTCTTCCCTGCATTTTCCCCAGTTCAATTCTGTTCTAACCTCAGACACAGAATAACATTAGGGTCAGGTTGGTGTCCCAAAGTGCCTGACTCCTCCCTGGAATTCTCCCACCTGTCCACCAGGGAAGACTGAGAATCCTCCTTTTACTTGGGAGCCCTGTGATGGACACCTCCCCGGGCTTGGGCTCTGCAGGCCCACACAGAGGACAGAGAGATGTGCCGAGGTG	TCCAGCAGGAGAGAGGCTCTGGGAAAGAGCTGGCTCAAGGAAAGGGAAGACCTCTGGAAGCCAGGGATGAGCGTGGGGATCCTGGTGCTGCCCCAGCAGGAAGATGCTTCGCTTTCTTCCAGGCTTGCTGAATGACAACACCTTTGCCCAGTGCAAGAAGGGGGTGCGTGTGGTGAACTGTGCCCGTGGAGGGATCGTGGACGAAGGCGCCCTGCTCCGGGCCCTGCAGTCTGGCCAGTGTGCCGGGGCTGCACTGGACGTGTTTACGGAAGTAAGTGCCTGGCAGCCTCAGCGTCAGGAGGACGGGAGAGATAGGGAGCAGAGAGGCCCATGGCAGGGAAAGCCTGGCGTTTTACAGAAAGCCTCTAGCTTATTGTCTCTTTCATCCATGGTAAAAGGAGAAAACTGTGTTGCCAAAAACACACCTTTGTGGTTTGAGGAGTCCTTGCGGAGCCTGGTATGGAGGCAGCTATGTGGTTTTCTGCAAAACTCGGGCTTTAAAGGGGACCCAGTTCCTGGTTCCGGGCTTCTCAGACTGCTAACATATTGACAAAGATAAAGCCACAAATCAGTTCTGAAGTTGAGGGTCTGGAGCAGGAAGAGAGGGGGCTTTAGTGTATAGTTGAGGGACCCTGATGGAAATGCAGTCCCATTGCCAAGAAAATGTCCTTTTCAGTGTCCATGGGCATTCTTTTTCCCTTCTTCTCTTGCTGGGTGGACAGAAGCCCGAGGATACTGGCAGTATTCCCTCAGGGTCCTCGGGGTGGGCTGCTTTCCCAGCTGGAGCAGAGGCTCAGCCTCACACCAGATCCAGTAGGGAAGAGTGCATTTGCACTCGAATCCTTTTGGCTCCTCTCCTGAAAGATCCTGTCCCCAACATTGGAGCTTCCCCTGGTGAGGAAGGGGAAAGGACATGGACTTTGGATTAGGTAGTTGTGGTTCGCAGGTTACTAGCTGTGTGTCCTTGGAAGGTCACTGGCCCTCTCTGAGCCCCTGTAGCACTCACTGTGTACTCCCAGCCCAGGGCACACAGTGCCTTTTGGTTTGTAACCTTGGTCATCTTTCTCAGCTCTTAGATCATAAGCTCCCTGAAGGCAGGGCAAGCCTTGTCCATCTTTGTATCACCATCCTCCCTAACACAGCACCTTCTCCTGCTCTCTTCAGCATCCTTGAACCACTTGCTGGTGGTACTTACATGGTTACATGTGGCCGGGACTCACAGGATTACATGGTTACATGTGGCCAGGACTCACAGGGTTAAATGGTCAAAATTCAATGGGACCAACAGAGCCCTGAGGAGAATGGCCGGAAGATGCCTAAATAACATACCCAAGGGCAATCTTCTCAGTGAGCAGAAGGGTGGAAAAGACACTGGAGGGTGGGGTGGAGGTGCCACAGATGGGCAACCTGTCCTGATGAGAGCCAAGATGCAGTTACCTGCGTGGAGTGTCTTGGAAGAGCAGGACACTGTGCTAAAAGTCCAGCAAGGCACATCGACAGCAAGTGCTGCATGGATGCAGGGGGGTGAGTTTCGGGGAAAAGCCCAGTAACAACAACAACAGTAGCTCCTATTGGTCAAGGGCCTCCCATGTTAAAGGTGCATAATCCCCACAGTAATGTTATGAGGGAGATAGGATCAACCCATTTCACAGATAAAGAAACTGAGGCTTAGATCAAGGTTCACCCCCAAGGCACCTAGGTGGTTAAGTGGTGAAGGTGAGATTTGAATCTGGTTCACACTTTGTGCTGTGTCCACTCTGCTGAGATGGAACATTCATGTGGAAGCCCATTATTGAGTCCAGTGACCACCCTGACAAAATAGAAGTGGAAGGCACCAGAACTCCTGACTGCCTTCCCTCCAACTTTCCTGTTGCCTGGGGTGGCCCAAGAGGGTGTGGCCAGTCCATGGCAGCCAACTTAGAGGTATCTCTTTCTGGGCAGGAGCCGCCACGGGACCGGGCCTTGGTGGACCATGAGAATGTCATCAGCTGTCCCCACCTGGGTGCCAGCACCAAGGAGGCTCAGAGCCGCTGTGGGGAGGAAATTGCTTTCAGTTCGTGGACATGGTGAAGGGGAAATCTCTCACGGGGGTTGTAAGTATCACCACCTGGGGCTGGGGGCCAGGAGTCAGAGGGAGGAGAGGAAGGAAGGCATCTTGTAGGGGCTGGTGGCAGCGTGGGTGAATAGATTCAGCCCTGGGAGCTGAAGATAAGGGAAATCTGCTTGAGTCAGCACTCTCCGGAGCAGGTGGGCGGGAGCCTCCCGTCTCCAGCCTTGATAGCAGAGGCCTTGGCAGCAGAGAGCCCGGCTCAGGCCTGTTATATCGTAGTCTTGCTGCAGAGATTGTGGCCCTTCCCAGGCCCAGCCTCTAGAGAAAGGCTCCTTTGTTCTCCACATGCCGTGGGAGTGAAGGAGTGCTGCTTGGGTGCCAGCTGGACGCAGCCGCAGCAGGTGGGGATGTGGTTGGGGACGGCCATGTAGAAATTTGCACCCTGTAAGCTCCCCAGACCCTGCCTTGACAGCCTGCCCTACCTACTCCCAAATGAGCCCTCTGTGCTGGCTGACCCCCTTGCTTTCCCCAAATCAAGGCATAAGACCCCCACTTCTTGTCTTTGCTTCCATCAAGCCCTTCCTGGCATGTGCGTCTCCTACGAGCTTAACCTGACTTACACTTCAAGTCCTGTCTCATTCATTCAGTCTGTGGATATTCCTTAAGTTTCACTGGGTACCAGACATTGTCATAGCTCTTGGGAGACACGGGTGCATGAGGGAGGCATAGCTCTCCTTCCAGGGGCTTGCTGCCTCCTTCTGAAGTCTTGCTTGGCCTTTCCAGCCCCTTCTCAATTCTGAGAACCATGTTCTTTCTTGTTATTAAGGTTCAGTTCCATGGGGTGTTTTTTTTTTTCCCTAATCTTTCTACTTAACCTAAGTTCTAAGTTCCCTGAGGACAAAAAAACATGACTTAAGCCTCTCTGCAGCTTGTGTGGGTGGGCCCAGGCCATGGAGTCAAAGGGTCAGGAAAATGGGCTGGGTGTTCTTGGTTGTCCTGGCTGACCCTCAGCTGGGTGATTTTCGCTGGTGAGGACAGCACTGTGGCAGGAGAGACGGGGATTTTGGTTCTGCCCTCCCACCTCTGGATTGAGAGCCCAGCCCTCCAGGCCTCTCTGCCCCCTCCATCCTGAGGAAAGAAGGGTGCCTCCTGCTGCCCAGCAGCCCCACACAGTCCATGGAAGTCAGCAGGGCTATGACCAGCAGCATGCGAGGAGGTCAGCAGAGACTCTGACCTGTCTGCATCCTCTGTCCTCTATGCTGTGTGGGCTCCTCAGGGCAGAGCACACTTCACTCATCTTGCACCTGGTCGGCCTCTGAGCAGGTTCGTTCCTCCCAGGAGATGCTGCTCGTTTCCCAGGCTGAGGTTTGAGCTCATCACCATTGCCAGCCAATCTGGGCTTCAGGGTTTTACCCTTTCAGCCTTCTCAGAAAGCAGCTGTCTGCCTTCCCCATCGCAGCCTTGCAATTTATTGCCATTACCATTAGGTAGCAGTGACATTCCAGAGCTTTTCCTGAAAGGGACTCCTGAATATAAGCTCTGGCAGAGCGAGGGGGTGGGGGAGGGAGGGGGACCTTGCAGAGAGATGGGGAGGAGGGGGTGAGAGGTGTATGGGCTCTGCCCTGCTGGGTGTATCTGCTGCAGGACACAGAGTTCCATCAAATGGACCACACAGTGTCCCCATCTTAGGAGGTGAAACCTCTTGGTCAAAATAACTACCCTTAGCAAATTGAACTGTTCACCCACATCAGCAAATAGTCTTAGAGTAGCCATTTGGAAAAAGAGACATTTTTGTCACATAAGAAATATATTTTCCTAATTCTTCCCTGCATTTTCCCCAGTTCAATTCTGTTCTAACCTCAGACACAGAATAACATTAGGGTCAGGTTGGTGTCCCAAAGTGCCTGACTCCTCCCTGGAATTCTCCCACCTGTCCACCAGGGAAGACTGAGAATCCTCCTTTTACTTGGGAGCCCTGTGATGGACACCTCCCCGGGCTTGGGCTCTGCAGGCCCACACAGAGGACAGAGAGATGTGCCGAGGTGN	pathogenic	13,874
Variant at chromosome position 119740430, chromosome 1, gene PHGDH (phosphoglycerate dehydrogenase): benign or pathogenic? If pathogenic, what condition(s) does it relate to?	pathogenic; ['Neu-Laxova_syndrome_1', 'PHGDH_deficiency']	AGCAGCCCCACACAGTCCATGGAAGTCAGCAGGGCTATGACCAGCAGCATGCGAGGAGGTCAGCAGAGACTCTGACCTGTCTGCATCCTCTGTCCTCTATGCTGTGTGGGCTCCTCAGGGCAGAGCACACTTCACTCATCTTGCACCTGGTCGGCCTCTGAGCAGGTTCGTTCCTCCCAGGAGATGCTGCTCGTTTCCCAGGCTGAGGTTTGAGCTCATCACCATTGCCAGCCAATCTGGGCTTCAGGGTTTTACCCTTTCAGCCTTCTCAGAAAGCAGCTGTCTGCCTTCCCCATCGCAGCCTTGCAATTTATTGCCATTACCATTAGGTAGCAGTGACATTCCAGAGCTTTTCCTGAAAGGGACTCCTGAATATAAGCTCTGGCAGAGCGAGGGGGTGGGGGAGGGAGGGGGACCTTGCAGAGAGATGGGGAGGAGGGGGTGAGAGGTGTATGGGCTCTGCCCTGCTGGGTGTATCTGCTGCAGGACACAGAGTTCCATCAAATGGACCACACAGTGTCCCCATCTTAGGAGGTGAAACCTCTTGGTCAAAATAACTACCCTTAGCAAATTGAACTGTTCACCCACATCAGCAAATAGTCTTAGAGTAGCCATTTGGAAAAAGAGACATTTTTGTCACATAAGAAATATATTTTCCTAATTCTTCCCTGCATTTTCCCCAGTTCAATTCTGTTCTAACCTCAGACACAGAATAACATTAGGGTCAGGTTGGTGTCCCAAAGTGCCTGACTCCTCCCTGGAATTCTCCCACCTGTCCACCAGGGAAGACTGAGAATCCTCCTTTTACTTGGGAGCCCTGTGATGGACACCTCCCCGGGCTTGGGCTCTGCAGGCCCACACAGAGGACAGAGAGATGTGCCGAGGTGCCTGCGTTATGGGCCCTCTTAGTTGGACTTTCCTCTGCTGCTGCAGGCCCTCAGCCCCGGCAGTGGCAGCATGGTGCTCCAGATCTCCTCCCAGCAGCTAGCTGCTCCACCCCACCACCCTTCTTGTCTGTGACTCCTTGGAGAGGATCCAGGAGCCATGCAGCAAGAAGCCTGCAGACCTGTCACCTCCCACACTGGAGAGGCTCCCGTGAAGCCCGGCCTCAGCAGTCATTTCCCATACCATGATTCTTTCTCTGTTTAAAAAAAAAAAAATTCTTCCAATGATATCTTTATGAAAACAGAAAGAGAAGCATCTGTGTTTCCTTCTAATTACATCTTGTAGCTGCCTGTTTGATTTGCATCTTTCTAAGATGGTTGACTTTACAAGTTATCTCAATAAAAGTGGCCAGATGCCTAACTCAGAACCAGAGCATTTTGAACCACAAAATGGAATTGAAATTTTGGCCCAGAACAAGCTGGTTCTGTTATCAGGCCCCTGGGTGGGGCAGGGGGCAGCCAGCCAGGTCCTAGACATAACTTTTGGGGGATATGGGGCTTGTGTCCCCTCAGTGTCACAACATGCCTCACAGTGGACTTCGCATGCGTTGATATTTGAAGCACGATCATCAAAACTTTGTGATAATTGATCGTAGTGTTTAGTAACAATGTAAACACTTAAAAAAATTCAAGATAGAAAATAAAAATGAAGGCAAGTTGGGACTGCCAGAGAAGACCCGTCACTCCTCATCCAAGTTATCTGCGACTCCCATATGTTTTGTGTCAAAGACTCACCTTTATTGTGCTGTCCAATCCCTTCCCCAGTGCAGAAACAAGTCTCCCATGGAGGGGGCTGGGGCAGACACAGTTTGCTGAAAGGAGCAATTTTGAGTGGTTGTGGCATTCTGTGTCCATTTCTGGCTCCACAGCTTTCTTCATTTGTAGGAACAAGTCCTTGTCCTGTTGTTAGTGGCTGATGGAAGTTGTCACCCACCAGGCACCAAGGCAGGAGTGACCCTATACTGTCTTTCTTGTGGAGCTGGGTCTTGGCAGCCAGATCTTGATTCAGGATCTGCCATGCCTCTTCCTGACCACAGCCCCGCTCCTCCATCCTCTGCAGGTGAATGCCCAGGCCCTTACCAGTGCCTTCTCTCCACACACCAAGCCTTGGATTGGTCTGGCAGAAGCTCTGGGGACACTGATGCGAGCCTGGGCTGGGTCCCCCAAAGGGACCATCCAGGTGATAACACAGGGTGAGCTGGGGACCTTGCAGAGGGAGGGGGAGGAGGGGATGAGGGAGTGTGGGATCTGCCCTGCTGGGTGTATTTGCTGCAGGACACAGGGTTAGTGAGAGGCAGTGAGGGTGCCTTGGACCCTGCCCTGAGTATAGCTCCCTTACTACTGGTGGGAGGGTGGTAAAGGGAGGGGTTAAAAAAAGTCGTTGGAAAGATGTACTGAATATTCATAAATCATGTTTATGTAGCATTTTTAAGACCTAGATATTTTGGGTGCAAGAGAAACCTCTACGAGAGAGAGAGTTTCATGCGAGAGGTCGTAGGATGGCTGGAGGGAGGCCCTAATTAAGCAACAGGATGCTGGATTCTGGTTTTTGGCCCTGTCTCTTCCCTGCTGTGTGACTCTCCCTTCTGAGGCTTGGATTCTTCACTTGTAAAGTGAGAGTTAGGGGCAGATGAGCCAGGAGCGGTGAGGACACTTTGTGCTCTGTAACTTACTAAGGTGGTACCTTGGGCCGTCTGACAGCCCTCGAGAGAGAGTTTGCTCAGCCGTGGAGTGGGAATGAGAACAGTGCCCTCTGACCACCCCTCGGGCTGCTGAGTGGGCTGTGGCCACCTTTGCAGTGGATCCAGTACTGTGCGGATGTGGTTGAGTGACCAAGGAGGGCTCCAGTTTCCTTAACCCTGTAGACGTGTATCTTTCCCCATGGACTCTTGGGTGTCTCACAGTTGGGCAGAGATTGCAGGGAGAGGGCAGCTAAACCCTAGGCATTGACAATACCAGGGAAGGGCAGAGCCAGGGGGTCCCACTGGCCTGGGTGTCCAAGCGCCGAAGGAAACAAGGCAGGGAGCTGGGCAGCAGTTGCTTCGGTTACTTCTTTCTGCTTTGATTTCCTGAGGCTGGCAAGGCTCTGAGTGCCAGGAAGGGGTAAGAGTAGGGAATTTTCCTGTGTCCCCTGGGAGAATAATAGGTAGGCCAGGATGGCCAAGCCAGGTGCAGGGTTGGGGAGCGGAGTGGAGTTGAGCTGAGTTTTGGAGAGGAGTTTCTCAGGGTGGTTAAAACATCCTGGGTTTCCTGGCTTGGGCCCAGATTATGCCTCTTCTGAGCCCACTGAAGGGCGAGTGGACCTGCCTGGAGCAAGCTGCCTTTGGGGTCCCCAGGGCAGCGAGGAGCCCATAGTCCAGAGCTAGGTGCCAGTGGCTTCCTGCCCCCTCCTGTAGTGCTCAACAAACAGTGACCTCATGGTAGCTTCTCTCTGTCCCCAGGAACATCCCTGAAGAATGCTGGGAACTGCCTAAGCCCCGCAGTCATTGTCGGCCTCCTGAAAGAGGCTTCCAAGCAGGCGGATGTGAACTTGGTGAACGCTAAGCTGCTGGTGAAAGAGGCTGGCCTCAATGTGCGCCCCTCTCCCCCACGCTGCCTCCCCATCCCTGTCAGCACTAGTCTTCTCCCCCACATTTCCAGAGCCCGTTCTCTGAGCGGAGGCCTAGGTCCCAGCCTTGCATCGGCCTGTCTACCTGTGAGGGGTAGCTGCAGTTTCTTCAACTGCAAAATGAAGATACTGCCTGGCCCCGAGTGTTGCTAATGGCACTGCTTTGTGTATGAGTGCTGTGGGAATGGAGGCAGTAGAAGTGTCCCCATTTCACAGCCAAAGAAAATGACGAGCTAGTGTGTTTGACTCTGCCCGACATGGCTGCCAGGCCATGTTTGACTCTGCCTAACTCCCCTCAGGGCTCCTCATGCCGTAGCACCCGGGTTCTTGATTCACTTGCAAGCTCTAGGAGCCCTGCTGCCTTGCACGGCTTCCCGTTGGCGCCTTCCCCTCTGGTTCCCTGTTTAGATCAAAGTCTGTTTCAAAGCCTGTTGCTCAGCCAGTGGGAGCTGGCAGAAGGGATAGGCAGTAGAGCTGCCATGTCCTCACCCCTCTGCTCCCCTCCACTCCTGCATGCCAGTCATGCCACTGATGCCGTGCAGGA	AGCAGCCCCACACAGTCCATGGAAGTCAGCAGGGCTATGACCAGCAGCATGCGAGGAGGTCAGCAGAGACTCTGACCTGTCTGCATCCTCTGTCCTCTATGCTGTGTGGGCTCCTCAGGGCAGAGCACACTTCACTCATCTTGCACCTGGTCGGCCTCTGAGCAGGTTCGTTCCTCCCAGGAGATGCTGCTCGTTTCCCAGGCTGAGGTTTGAGCTCATCACCATTGCCAGCCAATCTGGGCTTCAGGGTTTTACCCTTTCAGCCTTCTCAGAAAGCAGCTGTCTGCCTTCCCCATCGCAGCCTTGCAATTTATTGCCATTACCATTAGGTAGCAGTGACATTCCAGAGCTTTTCCTGAAAGGGACTCCTGAATATAAGCTCTGGCAGAGCGAGGGGGTGGGGGAGGGAGGGGGACCTTGCAGAGAGATGGGGAGGAGGGGGTGAGAGGTGTATGGGCTCTGCCCTGCTGGGTGTATCTGCTGCAGGACACAGAGTTCCATCAAATGGACCACACAGTGTCCCCATCTTAGGAGGTGAAACCTCTTGGTCAAAATAACTACCCTTAGCAAATTGAACTGTTCACCCACATCAGCAAATAGTCTTAGAGTAGCCATTTGGAAAAAGAGACATTTTTGTCACATAAGAAATATATTTTCCTAATTCTTCCCTGCATTTTCCCCAGTTCAATTCTGTTCTAACCTCAGACACAGAATAACATTAGGGTCAGGTTGGTGTCCCAAAGTGCCTGACTCCTCCCTGGAATTCTCCCACCTGTCCACCAGGGAAGACTGAGAATCCTCCTTTTACTTGGGAGCCCTGTGATGGACACCTCCCCGGGCTTGGGCTCTGCAGGCCCACACAGAGGACAGAGAGATGTGCCGAGGTGCCTGCGTTATGGGCCCTCTTAGTTGGACTTTCCTCTGCTGCTGCAGGCCCTCAGCCCCGGCAGTGGCAGCATGGTGCTCCAGATCTCCTCCCAGCAGCTAGCTGCTCCACCCCACCACCCTTCTTGTCTGTGACTCCTTGGAGAGGATCCAGGAGCCATGCAGCAAGAAGCCTGCAGACCTGTCACCTCCCACACTGGAGAGGCTCCCGTGAAGCCCGGCCTCAGCAGTCATTTCCCATACCATGATTCTTTCTCTGTTTAAAAAAAAAAAAATTCTTCCAATGATATCTTTATGAAAACAGAAAGAGAAGCATCTGTGTTTCCTTCTAATTACATCTTGTAGCTGCCTGTTTGATTTGCATCTTTCTAAGATGGTTGACTTTACAAGTTATCTCAATAAAAGTGGCCAGATGCCTAACTCAGAACCAGAGCATTTTGAACCACAAAATGGAATTGAAATTTTGGCCCAGAACAAGCTGGTTCTGTTATCAGGCCCCTGGGTGGGGCAGGGGGCAGCCAGCCAGGTCCTAGACATAACTTTTGGGGGATATGGGGCTTGTGTCCCCTCAGTGTCACAACATGCCTCACAGTGGACTTCGCATGCGTTGATATTTGAAGCACGATCATCAAAACTTTGTGATAATTGATCGTAGTGTTTAGTAACAATGTAAACACTTAAAAAAATTCAAGATAGAAAATAAAAATGAAGGCAAGTTGGGACTGCCAGAGAAGACCCGTCACTCCTCATCCAAGTTATCTGCGACTCCCATATGTTTTGTGTCAAAGACTCACCTTTATTGTGCTGTCCAATCCCTTCCCCAGTGCAGAAACAAGTCTCCCATGGAGGGGGCTGGGGCAGACACAGTTTGCTGAAAGGAGCAATTTTGAGTGGTTGTGGCATTCTGTGTCCATTTCTGGCTCCACAGCTTTCTTCATTTGTAGGAACAAGTCCTTGTCCTGTTGTTAGTGGCTGATGGAAGTTGTCACCCACCAGGCACCAAGGCAGGAGTGACCCTATACTGTCTTTCTTGTGGAGCTGGGTCTTGGCAGCCAGATCTTGATTCAGGATCTGCCATGCCTCTTCCTGACCACAGCCCCGCTCCTCCATCCTCTGCAGGTGAATGCCCAGGCCCTTACCAGTGCCTTCTCTCCACACACCAAGCTTGGATTGGTCTGGCAGAAGCTCTGGGGACACTGATGCGAGCCTGGGCTGGGTCCCCCAAAGGGACCATCCAGGTGATAACACAGGGTGAGCTGGGGACCTTGCAGAGGGAGGGGGAGGAGGGGATGAGGGAGTGTGGGATCTGCCCTGCTGGGTGTATTTGCTGCAGGACACAGGGTTAGTGAGAGGCAGTGAGGGTGCCTTGGACCCTGCCCTGAGTATAGCTCCCTTACTACTGGTGGGAGGGTGGTAAAGGGAGGGGTTAAAAAAAGTCGTTGGAAAGATGTACTGAATATTCATAAATCATGTTTATGTAGCATTTTTAAGACCTAGATATTTTGGGTGCAAGAGAAACCTCTACGAGAGAGAGAGTTTCATGCGAGAGGTCGTAGGATGGCTGGAGGGAGGCCCTAATTAAGCAACAGGATGCTGGATTCTGGTTTTTGGCCCTGTCTCTTCCCTGCTGTGTGACTCTCCCTTCTGAGGCTTGGATTCTTCACTTGTAAAGTGAGAGTTAGGGGCAGATGAGCCAGGAGCGGTGAGGACACTTTGTGCTCTGTAACTTACTAAGGTGGTACCTTGGGCCGTCTGACAGCCCTCGAGAGAGAGTTTGCTCAGCCGTGGAGTGGGAATGAGAACAGTGCCCTCTGACCACCCCTCGGGCTGCTGAGTGGGCTGTGGCCACCTTTGCAGTGGATCCAGTACTGTGCGGATGTGGTTGAGTGACCAAGGAGGGCTCCAGTTTCCTTAACCCTGTAGACGTGTATCTTTCCCCATGGACTCTTGGGTGTCTCACAGTTGGGCAGAGATTGCAGGGAGAGGGCAGCTAAACCCTAGGCATTGACAATACCAGGGAAGGGCAGAGCCAGGGGGTCCCACTGGCCTGGGTGTCCAAGCGCCGAAGGAAACAAGGCAGGGAGCTGGGCAGCAGTTGCTTCGGTTACTTCTTTCTGCTTTGATTTCCTGAGGCTGGCAAGGCTCTGAGTGCCAGGAAGGGGTAAGAGTAGGGAATTTTCCTGTGTCCCCTGGGAGAATAATAGGTAGGCCAGGATGGCCAAGCCAGGTGCAGGGTTGGGGAGCGGAGTGGAGTTGAGCTGAGTTTTGGAGAGGAGTTTCTCAGGGTGGTTAAAACATCCTGGGTTTCCTGGCTTGGGCCCAGATTATGCCTCTTCTGAGCCCACTGAAGGGCGAGTGGACCTGCCTGGAGCAAGCTGCCTTTGGGGTCCCCAGGGCAGCGAGGAGCCCATAGTCCAGAGCTAGGTGCCAGTGGCTTCCTGCCCCCTCCTGTAGTGCTCAACAAACAGTGACCTCATGGTAGCTTCTCTCTGTCCCCAGGAACATCCCTGAAGAATGCTGGGAACTGCCTAAGCCCCGCAGTCATTGTCGGCCTCCTGAAAGAGGCTTCCAAGCAGGCGGATGTGAACTTGGTGAACGCTAAGCTGCTGGTGAAAGAGGCTGGCCTCAATGTGCGCCCCTCTCCCCCACGCTGCCTCCCCATCCCTGTCAGCACTAGTCTTCTCCCCCACATTTCCAGAGCCCGTTCTCTGAGCGGAGGCCTAGGTCCCAGCCTTGCATCGGCCTGTCTACCTGTGAGGGGTAGCTGCAGTTTCTTCAACTGCAAAATGAAGATACTGCCTGGCCCCGAGTGTTGCTAATGGCACTGCTTTGTGTATGAGTGCTGTGGGAATGGAGGCAGTAGAAGTGTCCCCATTTCACAGCCAAAGAAAATGACGAGCTAGTGTGTTTGACTCTGCCCGACATGGCTGCCAGGCCATGTTTGACTCTGCCTAACTCCCCTCAGGGCTCCTCATGCCGTAGCACCCGGGTTCTTGATTCACTTGCAAGCTCTAGGAGCCCTGCTGCCTTGCACGGCTTCCCGTTGGCGCCTTCCCCTCTGGTTCCCTGTTTAGATCAAAGTCTGTTTCAAAGCCTGTTGCTCAGCCAGTGGGAGCTGGCAGAAGGGATAGGCAGTAGAGCTGCCATGTCCTCACCCCTCTGCTCCCCTCCACTCCTGCATGCCAGTCATGCCACTGATGCCGTGCAGGAN	pathogenic	13,877
Does the variant impacting PHGDH (phosphoglycerate dehydrogenase) on chromosome 1, position 119742990, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Neu-Laxova_syndrome_1', 'PHGDH_deficiency']	AGAGTTAGGGGCAGATGAGCCAGGAGCGGTGAGGACACTTTGTGCTCTGTAACTTACTAAGGTGGTACCTTGGGCCGTCTGACAGCCCTCGAGAGAGAGTTTGCTCAGCCGTGGAGTGGGAATGAGAACAGTGCCCTCTGACCACCCCTCGGGCTGCTGAGTGGGCTGTGGCCACCTTTGCAGTGGATCCAGTACTGTGCGGATGTGGTTGAGTGACCAAGGAGGGCTCCAGTTTCCTTAACCCTGTAGACGTGTATCTTTCCCCATGGACTCTTGGGTGTCTCACAGTTGGGCAGAGATTGCAGGGAGAGGGCAGCTAAACCCTAGGCATTGACAATACCAGGGAAGGGCAGAGCCAGGGGGTCCCACTGGCCTGGGTGTCCAAGCGCCGAAGGAAACAAGGCAGGGAGCTGGGCAGCAGTTGCTTCGGTTACTTCTTTCTGCTTTGATTTCCTGAGGCTGGCAAGGCTCTGAGTGCCAGGAAGGGGTAAGAGTAGGGAATTTTCCTGTGTCCCCTGGGAGAATAATAGGTAGGCCAGGATGGCCAAGCCAGGTGCAGGGTTGGGGAGCGGAGTGGAGTTGAGCTGAGTTTTGGAGAGGAGTTTCTCAGGGTGGTTAAAACATCCTGGGTTTCCTGGCTTGGGCCCAGATTATGCCTCTTCTGAGCCCACTGAAGGGCGAGTGGACCTGCCTGGAGCAAGCTGCCTTTGGGGTCCCCAGGGCAGCGAGGAGCCCATAGTCCAGAGCTAGGTGCCAGTGGCTTCCTGCCCCCTCCTGTAGTGCTCAACAAACAGTGACCTCATGGTAGCTTCTCTCTGTCCCCAGGAACATCCCTGAAGAATGCTGGGAACTGCCTAAGCCCCGCAGTCATTGTCGGCCTCCTGAAAGAGGCTTCCAAGCAGGCGGATGTGAACTTGGTGAACGCTAAGCTGCTGGTGAAAGAGGCTGGCCTCAATGTGCGCCCCTCTCCCCCACGCTGCCTCCCCATCCCTGTCAGCACTAGTCTTCTCCCCCACATTTCCAGAGCCCGTTCTCTGAGCGGAGGCCTAGGTCCCAGCCTTGCATCGGCCTGTCTACCTGTGAGGGGTAGCTGCAGTTTCTTCAACTGCAAAATGAAGATACTGCCTGGCCCCGAGTGTTGCTAATGGCACTGCTTTGTGTATGAGTGCTGTGGGAATGGAGGCAGTAGAAGTGTCCCCATTTCACAGCCAAAGAAAATGACGAGCTAGTGTGTTTGACTCTGCCCGACATGGCTGCCAGGCCATGTTTGACTCTGCCTAACTCCCCTCAGGGCTCCTCATGCCGTAGCACCCGGGTTCTTGATTCACTTGCAAGCTCTAGGAGCCCTGCTGCCTTGCACGGCTTCCCGTTGGCGCCTTCCCCTCTGGTTCCCTGTTTAGATCAAAGTCTGTTTCAAAGCCTGTTGCTCAGCCAGTGGGAGCTGGCAGAAGGGATAGGCAGTAGAGCTGCCATGTCCTCACCCCTCTGCTCCCCTCCACTCCTGCATGCCAGTCATGCCACTGATGCCGTGCAGGAGGCTGTGTCAGAGCAGGAGGGGCCAGAGTGGAGTCTCCTCACAGCCCTGCCTCCCTGCTTTTCTTTCCTCCCTGTTTTCCTCCAAGCCTTCGCCTGTGCCTGGCAGATCTCTTTGCCCTCCCTTTAAGGAGATCATTGGCTGTTCCAGGAAGCTGATGCCGAAGGGCACACAGCTTGGCCCATTTGCCCTCTCCCTTCTGGTCCTGAATTACTGAGCACATTATCCAGGCTGGAGCCCTACATCCTACCAATGGGTGATTTGGCCAAGAGAGGAGGGTGGACGTGGTGCAGCCAGGAGGTGTAACAGTCACCTTGCCTTCTCCACACAGGTCACCACCTCCCACAGCCCTGCTGCACCAGGGGAGCAAGGCTTCGGGGAATGCCTCCTGGCCGTGGCCCTGGCAGGCGCCCCTTACCAGGCTGTGGGCTTGGTCCAAGGCACTACGCCTGTACTGCAGGGGCTCAATGGAGCTGTCTTCAGGCCAGAAGTGCCTCTCCGCAGGGACCTGCCCCTGCTCCTATTCCGGACTCAGACCTCTGACCCTGCAATGCTGCCTACCATGATTGGTGAGGAGGGCCCTGTAGGGCTGGCTGGTGTCCTTGAGGCTGGGGTGGGGTCTGCCCTGGAATTGAACTCTACCCACCTTCCTTTAGCCCCTCTTCATGTCCCAGGGTGTCTCTGGATCTGCACCATACAGAGGGTCTGATGCCAGTTTTCAGAACCTTCAGGGAGTGGATACTCAGTTCAAAGAGGGAAAGTGCCTTATCCAGGGTCACAGAGCAGCATGGCAGGGGTGGGGCCATAGCCTCTATTCCTGCCCAGCTGTGGATCCTCAGCTTGCCATGTTAGGTACACTGGACCAGCTTGTGGAGCCATAGCCCAGGAGCTCAGGGACATTGAGTGCAGGTTTCTTACTCCTACCTGCTGGCCCTGTGGCTGTCCCTGGTGGCCAGCCCAGCTGCAGCAAAACCTACAAAGCCTCCAGCCATGGTAGGCGTCTTGGACCTGCCCCAGTCAGCTGGGGCTTGGGCTGCTAGGGGTTTTGGCACACGTCCATGTTTGGCGGAGGGTGTGCCTTCAAACCCTGAAGGGCCTAATTTCACCATTCTTTCTGGCTGCCCAAGGGAACTTCCCTGCTTTTCTCCCTTGCTGTTGGCTGGATAAAACTGGCAATCAGAAAGTCAAGAGCTACAGCTGATGGTCATGGTGTTCCCAGAGAGTCAGGAATATCCATGGAAGCTGAGCAGATGCCCTGTTGCTCTCCCATCTCAGCTCTTTGATTCTGAGACCATCATCCGCTCATTGCACCTTTGATCACAAAAGCTTTGAACTTCTGATTCTGCTCCCAATCCCTCGCTCCTTTTTCCCCTATCCCCTGTGCCAACCAGGAGTTTCTTCTATTTCCAGGCCTCCTGGCAGAGGCAGGCGTGCGGCTGCTGTCCTACCAGACTTCACTGGTGTCAGATGGGGAGACCTGGCACGTCATGGGCATCTCCTCCTTGCTGCCCAGCCTGGAAGCGTGGAAGCAGCATGTGACTGAAGCCTTCCAGTTCCACTTCTAACCTTGGAGCTCACTGGTCCCTGCCTCTGGGGCTTTTCTGAAGAAACCCACCCACTGTGATCAATAGGGAGAGAAAATCCACATTCTTGGGCTGAACGCGGGCCTCTGACACTGCTTACACTGCACTCTGACCCTGTAGTACAGCAATAACCGTCTAATAAAGAGCCTACCCCCAACTCCTTCTGCACTTTTGTGTGGTCATTATCCTAAAGCGCCACCAGAGGGCGTCCAAAGGCAGACGTAGGGTTTGGTTTAGACTGCGGGAGCGGAGCGGGTGTGGGGGAAGATGGGGATGAGCAAATGGCTTGGTTGAGTTCTTTGAAGGTGATCCCTCTCTTGTCTGCCGAAGGTTACTCAGAGGCACTTTTACAGGAGCAAAGCTCAATGTATTTCACAGTGCTACGGTATTTCAGACCCCTTCCATCTGGGAATATACATGCACGTTAATAAGTAAGATTCAACACACAAGCCCAGCATTATGTACCAGGCACTGGGCTAGGTGCTTTACTTTAAGAGGAGAATTCAAACCTGACCCTTTTTCCATAGAAGTCTGGTGGGAGGGACAGAGCATGCAGAGGTGACTGGAAGCAGTGAGTGATGCTACAACAGAGGTGTATAGGAAATTCTCTAGAGTCCAAAGGAGGAAGTAATTTGAGCTGAGGATATTGGTGTCTCAGGAGATGTTTAGAAGGATTTCATAAGGGAAAGAAAGTGTAAAATTATGGGGGTATGAGACTATTTGGCAAGTTCACAAAGCAAGGTCAGTGTGGGTTGGTGAACATGTCACTTTTTTTTGAAAGATGATTTTCATGCAAAATACAGCTGAACGGCACTCTACCCAAAAGATTCACTTCAGGGAATTTTTTTCCCCATTAATAAGGGATGATCCATTCTTACTGTGTGCCCAGTAGTGTCTGTTTCTGAGATTCCTGGCCTGGCTAAGAAGGCTTGACACAGGGCAGCTGCTTGGCACTGGCAGGGGCGAGTCCAGCACTCTG	AGAGTTAGGGGCAGATGAGCCAGGAGCGGTGAGGACACTTTGTGCTCTGTAACTTACTAAGGTGGTACCTTGGGCCGTCTGACAGCCCTCGAGAGAGAGTTTGCTCAGCCGTGGAGTGGGAATGAGAACAGTGCCCTCTGACCACCCCTCGGGCTGCTGAGTGGGCTGTGGCCACCTTTGCAGTGGATCCAGTACTGTGCGGATGTGGTTGAGTGACCAAGGAGGGCTCCAGTTTCCTTAACCCTGTAGACGTGTATCTTTCCCCATGGACTCTTGGGTGTCTCACAGTTGGGCAGAGATTGCAGGGAGAGGGCAGCTAAACCCTAGGCATTGACAATACCAGGGAAGGGCAGAGCCAGGGGGTCCCACTGGCCTGGGTGTCCAAGCGCCGAAGGAAACAAGGCAGGGAGCTGGGCAGCAGTTGCTTCGGTTACTTCTTTCTGCTTTGATTTCCTGAGGCTGGCAAGGCTCTGAGTGCCAGGAAGGGGTAAGAGTAGGGAATTTTCCTGTGTCCCCTGGGAGAATAATAGGTAGGCCAGGATGGCCAAGCCAGGTGCAGGGTTGGGGAGCGGAGTGGAGTTGAGCTGAGTTTTGGAGAGGAGTTTCTCAGGGTGGTTAAAACATCCTGGGTTTCCTGGCTTGGGCCCAGATTATGCCTCTTCTGAGCCCACTGAAGGGCGAGTGGACCTGCCTGGAGCAAGCTGCCTTTGGGGTCCCCAGGGCAGCGAGGAGCCCATAGTCCAGAGCTAGGTGCCAGTGGCTTCCTGCCCCCTCCTGTAGTGCTCAACAAACAGTGACCTCATGGTAGCTTCTCTCTGTCCCCAGGAACATCCCTGAAGAATGCTGGGAACTGCCTAAGCCCCGCAGTCATTGTCGGCCTCCTGAAAGAGGCTTCCAAGCAGGCGGATGTGAACTTGGTGAACGCTAAGCTGCTGGTGAAAGAGGCTGGCCTCAATGTGCGCCCCTCTCCCCCACGCTGCCTCCCCATCCCTGTCAGCACTAGTCTTCTCCCCCACATTTCCAGAGCCCGTTCTCTGAGCGGAGGCCTAGGTCCCAGCCTTGCATCGGCCTGTCTACCTGTGAGGGGTAGCTGCAGTTTCTTCAACTGCAAAATGAAGATACTGCCTGGCCCCGAGTGTTGCTAATGGCACTGCTTTGTGTATGAGTGCTGTGGGAATGGAGGCAGTAGAAGTGTCCCCATTTCACAGCCAAAGAAAATGACGAGCTAGTGTGTTTGACTCTGCCCGACATGGCTGCCAGGCCATGTTTGACTCTGCCTAACTCCCCTCAGGGCTCCTCATGCCGTAGCACCCGGGTTCTTGATTCACTTGCAAGCTCTAGGAGCCCTGCTGCCTTGCACGGCTTCCCGTTGGCGCCTTCCCCTCTGGTTCCCTGTTTAGATCAAAGTCTGTTTCAAAGCCTGTTGCTCAGCCAGTGGGAGCTGGCAGAAGGGATAGGCAGTAGAGCTGCCATGTCCTCACCCCTCTGCTCCCCTCCACTCCTGCATGCCAGTCATGCCACTGATGCCGTGCAGGAGGCTGTGTCAGAGCAGGAGGGGCCAGAGTGGAGTCTCCTCACAGCCCTGCCTCCCTGCTTTTCTTTCCTCCCTGTTTTCCTCCAAGCCTTCGCCTGTGCCTGGCAGATCTCTTTGCCCTCCCTTTAAGGAGATCATTGGCTGTTCCAGGAAGCTGATGCCGAAGGGCACACAGCTTGGCCCATTTGCCCTCTCCCTTCTGGTCCTGAATTACTGAGCACATTATCCAGGCTGGAGCCCTACATCCTACCAATGGGTGATTTGGCCAAGAGAGGAGGGTGGACGTGGTGCAGCCAGGAGGTGTAACAGTCACCTTGCCTTCTCCACACAGGTCACCACCTCCCACAGCCCTGCTGCACCAGGGGAGCAAGGCTTCGGGGAATGCCTCCTGGCCGTGGCCCTGGCAGGCGCCCCTTACCAGGCTGTGGGCTTGGTCCAAGGCACTACGCCTGTACTGCAGGGGCTCAATGGAGCTGTCTTCAGGCCAGAAGTGCCTCTCCGCAGGGACCTGCCCCGCTCCTATTCCGGACTCAGACCTCTGACCCTGCAATGCTGCCTACCATGATTGGTGAGGAGGGCCCTGTAGGGCTGGCTGGTGTCCTTGAGGCTGGGGTGGGGTCTGCCCTGGAATTGAACTCTACCCACCTTCCTTTAGCCCCTCTTCATGTCCCAGGGTGTCTCTGGATCTGCACCATACAGAGGGTCTGATGCCAGTTTTCAGAACCTTCAGGGAGTGGATACTCAGTTCAAAGAGGGAAAGTGCCTTATCCAGGGTCACAGAGCAGCATGGCAGGGGTGGGGCCATAGCCTCTATTCCTGCCCAGCTGTGGATCCTCAGCTTGCCATGTTAGGTACACTGGACCAGCTTGTGGAGCCATAGCCCAGGAGCTCAGGGACATTGAGTGCAGGTTTCTTACTCCTACCTGCTGGCCCTGTGGCTGTCCCTGGTGGCCAGCCCAGCTGCAGCAAAACCTACAAAGCCTCCAGCCATGGTAGGCGTCTTGGACCTGCCCCAGTCAGCTGGGGCTTGGGCTGCTAGGGGTTTTGGCACACGTCCATGTTTGGCGGAGGGTGTGCCTTCAAACCCTGAAGGGCCTAATTTCACCATTCTTTCTGGCTGCCCAAGGGAACTTCCCTGCTTTTCTCCCTTGCTGTTGGCTGGATAAAACTGGCAATCAGAAAGTCAAGAGCTACAGCTGATGGTCATGGTGTTCCCAGAGAGTCAGGAATATCCATGGAAGCTGAGCAGATGCCCTGTTGCTCTCCCATCTCAGCTCTTTGATTCTGAGACCATCATCCGCTCATTGCACCTTTGATCACAAAAGCTTTGAACTTCTGATTCTGCTCCCAATCCCTCGCTCCTTTTTCCCCTATCCCCTGTGCCAACCAGGAGTTTCTTCTATTTCCAGGCCTCCTGGCAGAGGCAGGCGTGCGGCTGCTGTCCTACCAGACTTCACTGGTGTCAGATGGGGAGACCTGGCACGTCATGGGCATCTCCTCCTTGCTGCCCAGCCTGGAAGCGTGGAAGCAGCATGTGACTGAAGCCTTCCAGTTCCACTTCTAACCTTGGAGCTCACTGGTCCCTGCCTCTGGGGCTTTTCTGAAGAAACCCACCCACTGTGATCAATAGGGAGAGAAAATCCACATTCTTGGGCTGAACGCGGGCCTCTGACACTGCTTACACTGCACTCTGACCCTGTAGTACAGCAATAACCGTCTAATAAAGAGCCTACCCCCAACTCCTTCTGCACTTTTGTGTGGTCATTATCCTAAAGCGCCACCAGAGGGCGTCCAAAGGCAGACGTAGGGTTTGGTTTAGACTGCGGGAGCGGAGCGGGTGTGGGGGAAGATGGGGATGAGCAAATGGCTTGGTTGAGTTCTTTGAAGGTGATCCCTCTCTTGTCTGCCGAAGGTTACTCAGAGGCACTTTTACAGGAGCAAAGCTCAATGTATTTCACAGTGCTACGGTATTTCAGACCCCTTCCATCTGGGAATATACATGCACGTTAATAAGTAAGATTCAACACACAAGCCCAGCATTATGTACCAGGCACTGGGCTAGGTGCTTTACTTTAAGAGGAGAATTCAAACCTGACCCTTTTTCCATAGAAGTCTGGTGGGAGGGACAGAGCATGCAGAGGTGACTGGAAGCAGTGAGTGATGCTACAACAGAGGTGTATAGGAAATTCTCTAGAGTCCAAAGGAGGAAGTAATTTGAGCTGAGGATATTGGTGTCTCAGGAGATGTTTAGAAGGATTTCATAAGGGAAAGAAAGTGTAAAATTATGGGGGTATGAGACTATTTGGCAAGTTCACAAAGCAAGGTCAGTGTGGGTTGGTGAACATGTCACTTTTTTTTGAAAGATGATTTTCATGCAAAATACAGCTGAACGGCACTCTACCCAAAAGATTCACTTCAGGGAATTTTTTTCCCCATTAATAAGGGATGATCCATTCTTACTGTGTGCCCAGTAGTGTCTGTTTCTGAGATTCCTGGCCTGGCTAAGAAGGCTTGACACAGGGCAGCTGCTTGGCACTGGCAGGGGCGAGTCCAGCACTCTGN	pathogenic	13,887
Gene HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2) variant at chromosome position 119752574 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['3-hydroxy-3-methylglutaryl-CoA_synthase_deficiency']	TTTATGGTACAAATCCCCACTTCTGATTAGTTTGAAAGCTGTGAACCCTCCCTGGCCTGGTTAATGTTCCCAAACTACAAGATTCCTATTCTGAATACTTGCTTTTCCTTTTAAAAATTCCACAGATAATTCTCCCATTTCTCCTGTCACCCCAATCCTCTTCCATTAAACTTTCTTCTCCCTGCACCTGTCCCCACCTTCTCTCTCTGTGTTGTTACTCAGAGGAAGACATTAGGGTTTTATGCCACCAACTCTGCAAACTCTCACTCACCACCTTTAGACGGGACGCCGGGCATACTTTCGGCGATGCTGCTCGTCCACTCGCTCCAGGTACCAAGTACCTGGGAAAAGGCTGTTTGTGTCACCAGGTGGGGAGAAATTCACTGTGGAATGAGGAGAAGAGGCAGTACTCACAAAGAGTTATATGAGTTTTTGGAAGAGAAAATAGTAATGAAGATGTCTGCCCCTTCACAGTGAAGCTCTCTTGGCTGGGCTGTAAGGGGCTGCAAGGTCACCCTTAGTCCACCAAATAGAACACTGGACCCACAGAACAAGAGGGGCAGCCATCTTGAATCTAGCACTTAAGGCCTTAATAAAAGTCTATTAAGACTTTTATTATAAGAGTACAACATTTTCCTACAGTAAACATAGCCTTCCTCCATTGAAATCTTCATCCCATCCTTTTGCCAATAGTTCCTACTTTGAGACGTAATTCCCAGCTTCCTGTTTCCTAACAGACACGTCCTTCTAAACTCTAAATTTTCTGGTTCTGATTCATTGCAGTATTTCAGTGCTTTGTCCGTTAACGTTTGTCTCAGAGGTCCTATTTTTCTTTTCTTCTTTTTTTTTTTTTTGTTTTGAGACAGAGTCTTTCTGTGTCACCCAGGCTAGAGTGTGGTGGTGTGATCTCAGTTCACTGCATCCTCTGCCTCCTGGGTTCAAGTAATTCTCCTCAGCCTCCTGAGTAGCTGAGATTAGAGGTGTGTGCCACCACACTCGGCTAATTTTTACATAATTTTATTTTTTTTATTATATTCATATTTTTATAATTTTTATATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCTGCCTCTGCCTCCCAAAGGACTAGCATTACAGGCGTGAGCCACTGTGCCCTGCTCCATTTTTATTTTCATTGTCTTTCTTTGCTATAACATATCCACTGGTCCAGAAGAGATCAATGACCACTAGGTCTAGGTTTTCTGGAACATTTCCAATTCCGTATATTCTGTCTCCTTTTGAGACCATGCTGCAAAACAACATGCATCCCAAGTTTTGCTTGAGAATATATATAAAACCTGTAGAAATCATGGTAAAACTGTGTATTACTATGGTTTTAAAACCACCAACTAATCACTCTAGTATTACCTTTGGGTTTCATTTTCCTTTCATTTGTTGCTTTTGGAGCAATATTTTGTTTTTTGTTTTTATGTTTGGTGGAGAAAGAGGGCAATTTGGAGGGGACAGTAATATTTGTCGATAACATATTTATATAGAGTAATTCATTTAATTTGTTTGGAAATCCTGCAAAATCGGTATGATTTTAGAAATAAGACAACTGAGAAAAGTTCAACCATTTTTCCAAAGATAAACAGCTAGTGAGTGGCACAGCTCAGGGTTAGATTTGGATATCTAGCTCTAAAGTCTGTACTCTTTCAACTGTTGCAGATGGTATTTTCAAAGACTATACTTCTGGCTTCCATGGGACTACACATTCTGGGTGTTTAGCTATATTCTATACTGGGAAGCTGCATCCTGCCTCCCTCTTCCCAACTCTATCTTCTGTTTCCCCACCCACTTCTTGCCCCTTTGGACAACAGATCTTCTAGCAAATCTTCTCCCAACCATATCTCGTAAAAGTCTTGACCCTGGACTACTAAATTCTAGATTTCCAAAGAAATCCCTGGCTCCCAGCTACTGGAATGGGGTCTCTCTTCCTCTCTTCCTGACTTTTTTCTTACCCTTATGGTAGAATTGCTCTCTTTGGTTCATTATTTCTGTGAACTCCTCAGGAGACACACACTTTCGGGAGGCTAGGCGTTTTGGCAGGTCTGATGTGCTGGACACCAACTTGTCCAGGGGAGAGCCTGGGAAGCAAAAGCAAGATTGTTACACCTTTTTCATTGTCATTATCACTATTGCCAATCACGAGTTCAACAGAGAGCCAGGTTCTGTGGGAGGTTACACCCTGGAGGAACGTGTGGTGTGTGTGGCTTAGAATACCAAGAAATGATAAGCAAGCATACTTGTTAGCAAAACATGCAGGCAGACACACTGATTTGGTCAAGGTGTATGCCACATAGTACTTAAATGCATGTCCTTAATCACATCAATCACAAAATAATCAATAAATTCTTATTAGGTATCTCAAATCCATCAACTTCTCTTTAATCAGTTGCAATCAAACCACCATTACCTCTTGCCTGAACTAGTTACTGGAACAATCTAAGTGGTTTCCCCATATCCAGCTTTGTTCCTTTTCAATCTAGTCTCTAAGTAGTAGCCAAATAAGTGCTTTAAACACATAAATTAAACAAACTTACTCCATGCTTAAATCCCTTCAGTGATTTACTTTGCTATTAATAATAACGTAACTCTGTCAAGATGGCAGCCTCAGTAATGGTGGGGAAGAAGATGGTTATTCTACCAGATGAATCTTGTCAGGAAGGCCTACTAGAAAGATGACACTCACCTGGAGCAGCATCCTGGGATACTCGAAATGAAAAGAAACTTGCTGCTAAACCAGAGCCATAAGAGAAGGCACCAATCCTGGAGCCAGCCAGTTCTTGGGCAGAGTGGCTGTGGGGAAAGAAATCAAATAAAACACACACACACACACACACACACACACACACACACATATATGTATATATATATTATATTCTGCACTTCAAATAGAACAACAGCCTATCATCCCGATCTTCTCCCTGTCTACCTCATGCAACTAGAAATGGGTTCCAGGCACCCTACATAAAGAGGGACTTCTGGTAGACCCCAGGGACAGGCCTTTGTGTAGGAAACCTTGCCAAAAGGAAAGCAGCTAATATCCAAGATATATAAGGCAGAGAAAACACAAGATAATTTTTGGTGTACATAGAGCTTCTCCCCTCTCATGAGGACAGGGTAAATTCAGTGCATTCTGAAGGTGTCTCCAGATGGAGATCAGACCACTGGACTCACCCTTCAGGCTCCCATGTTGATTGGTAATGGTTCAGCAGTCATAACTTTTTGATCATCCCCTGTGAGTAATAATTTGATCAAGTTCACCCATAAGCACTTTTTCCTGCCCGTTTTTTTTTTCTTTTTTTGGCAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCCCGGAATGCAGTGGCGTGATCATGGCTCACTGCAGCCTTTACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGGATTCAGGATCCTGAGTAGCTGGGACTACAGGTGCAAGCTGCCACACCCAGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAAGCTATAGTGCAGTAGCTCGATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGCAATTCTCATGCCTCAGCCTCTCGAGTTGCTGGGACTACAGGCACGTACCACCATGCCCAGCTGATGTTTGTATTTTTAGTAGAGAAGGGGTTTTGCCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTTCCCACCTTGGCCTCCCAAAGTGTTGGTATTACAGGCATGAGCCACCGTGAACATCCATGGCTAATTGTTTAAAAAAATTTTGTAGAGATGGGGCCTCCCTCTGTTCCCAAGGCTGGTCTCAAACTCCTGAGCTCAAGAGATCCTCCTGCCTGAGCCTTCCAAAGTGCTAGGATTATAGGCATGAGCCACTTCATGAGCCCTTTCTTATGTTAGATGCAGTACTTCCTTATAAAACCCACAAAACAGAAAATGAATAGAAATAACATCCAACATTTGAGCACCTGCTAAGCACTGCTATTTTAATTGTTTTAGATACTTAAT	TTTATGGTACAAATCCCCACTTCTGATTAGTTTGAAAGCTGTGAACCCTCCCTGGCCTGGTTAATGTTCCCAAACTACAAGATTCCTATTCTGAATACTTGCTTTTCCTTTTAAAAATTCCACAGATAATTCTCCCATTTCTCCTGTCACCCCAATCCTCTTCCATTAAACTTTCTTCTCCCTGCACCTGTCCCCACCTTCTCTCTCTGTGTTGTTACTCAGAGGAAGACATTAGGGTTTTATGCCACCAACTCTGCAAACTCTCACTCACCACCTTTAGACGGGACGCCGGGCATACTTTCGGCGATGCTGCTCGTCCACTCGCTCCAGGTACCAAGTACCTGGGAAAAGGCTGTTTGTGTCACCAGGTGGGGAGAAATTCACTGTGGAATGAGGAGAAGAGGCAGTACTCACAAAGAGTTATATGAGTTTTTGGAAGAGAAAATAGTAATGAAGATGTCTGCCCCTTCACAGTGAAGCTCTCTTGGCTGGGCTGTAAGGGGCTGCAAGGTCACCCTTAGTCCACCAAATAGAACACTGGACCCACAGAACAAGAGGGGCAGCCATCTTGAATCTAGCACTTAAGGCCTTAATAAAAGTCTATTAAGACTTTTATTATAAGAGTACAACATTTTCCTACAGTAAACATAGCCTTCCTCCATTGAAATCTTCATCCCATCCTTTTGCCAATAGTTCCTACTTTGAGACGTAATTCCCAGCTTCCTGTTTCCTAACAGACACGTCCTTCTAAACTCTAAATTTTCTGGTTCTGATTCATTGCAGTATTTCAGTGCTTTGTCCGTTAACGTTTGTCTCAGAGGTCCTATTTTTCTTTTCTTCTTTTTTTTTTTTTTGTTTTGAGACAGAGTCTTTCTGTGTCACCCAGGCTAGAGTGTGGTGGTGTGATCTCAGTTCACTGCATCCTCTGCCTCCTGGGTTCAAGTAATTCTCCTCAGCCTCCTGAGTAGCTGAGATTAGAGGTGTGTGCCACCACACTCGGCTAATTTTTACATAATTTTATTTTTTTTATTATATTCATATTTTTATAATTTTTATATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCTGCCTCTGCCTCCCAAAGGACTAGCATTACAGGCGTGAGCCACTGTGCCCTGCTCCATTTTTATTTTCATTGTCTTTCTTTGCTATAACATATCCACTGGTCCAGAAGAGATCAATGACCACTAGGTCTAGGTTTTCTGGAACATTTCCAATTCCGTATATTCTGTCTCCTTTTGAGACCATGCTGCAAAACAACATGCATCCCAAGTTTTGCTTGAGAATATATATAAAACCTGTAGAAATCATGGTAAAACTGTGTATTACTATGGTTTTAAAACCACCAACTAATCACTCTAGTATTACCTTTGGGTTTCATTTTCCTTTCATTTGTTGCTTTTGGAGCAATATTTTGTTTTTTGTTTTTATGTTTGGTGGAGAAAGAGGGCAATTTGGAGGGGACAGTAATATTTGTCGATAACATATTTATATAGAGTAATTCATTTAATTTGTTTGGAAATCCTGCAAAATCGGTATGATTTTAGAAATAAGACAACTGAGAAAAGTTCAACCATTTTTCCAAAGATAAACAGCTAGTGAGTGGCACAGCTCAGGGTTAGATTTGGATATCTAGCTCTAAAGTCTGTACTCTTTCAACTGTTGCAGATGGTATTTTCAAAGACTATACTTCTGGCTTCCATGGGACTACACATTCTGGGTGTTTAGCTATATTCTATACTGGGAAGCTGCATCCTGCCTCCCTCTTCCCAACTCTATCTTCTGTTTCCCCACCCACTTCTTGCCCCTTTGGACAACAGATCTTCTAGCAAATCTTCTCCCAACCATATCTCGTAAAAGTCTTGACCCTGGACTACTAAATTCTAGATTTCCAAAGAAATCCCTGGCTCCCAGCTACTGGAATGGGGTCTCTCTTCCTCTCTTCCTGACTTTTTTCTTACCCTTATGGTAGAATTGCTCTCTTTGGTCATTATTTCTGTGAACTCCTCAGGAGACACACACTTTCGGGAGGCTAGGCGTTTTGGCAGGTCTGATGTGCTGGACACCAACTTGTCCAGGGGAGAGCCTGGGAAGCAAAAGCAAGATTGTTACACCTTTTTCATTGTCATTATCACTATTGCCAATCACGAGTTCAACAGAGAGCCAGGTTCTGTGGGAGGTTACACCCTGGAGGAACGTGTGGTGTGTGTGGCTTAGAATACCAAGAAATGATAAGCAAGCATACTTGTTAGCAAAACATGCAGGCAGACACACTGATTTGGTCAAGGTGTATGCCACATAGTACTTAAATGCATGTCCTTAATCACATCAATCACAAAATAATCAATAAATTCTTATTAGGTATCTCAAATCCATCAACTTCTCTTTAATCAGTTGCAATCAAACCACCATTACCTCTTGCCTGAACTAGTTACTGGAACAATCTAAGTGGTTTCCCCATATCCAGCTTTGTTCCTTTTCAATCTAGTCTCTAAGTAGTAGCCAAATAAGTGCTTTAAACACATAAATTAAACAAACTTACTCCATGCTTAAATCCCTTCAGTGATTTACTTTGCTATTAATAATAACGTAACTCTGTCAAGATGGCAGCCTCAGTAATGGTGGGGAAGAAGATGGTTATTCTACCAGATGAATCTTGTCAGGAAGGCCTACTAGAAAGATGACACTCACCTGGAGCAGCATCCTGGGATACTCGAAATGAAAAGAAACTTGCTGCTAAACCAGAGCCATAAGAGAAGGCACCAATCCTGGAGCCAGCCAGTTCTTGGGCAGAGTGGCTGTGGGGAAAGAAATCAAATAAAACACACACACACACACACACACACACACACACACACATATATGTATATATATATTATATTCTGCACTTCAAATAGAACAACAGCCTATCATCCCGATCTTCTCCCTGTCTACCTCATGCAACTAGAAATGGGTTCCAGGCACCCTACATAAAGAGGGACTTCTGGTAGACCCCAGGGACAGGCCTTTGTGTAGGAAACCTTGCCAAAAGGAAAGCAGCTAATATCCAAGATATATAAGGCAGAGAAAACACAAGATAATTTTTGGTGTACATAGAGCTTCTCCCCTCTCATGAGGACAGGGTAAATTCAGTGCATTCTGAAGGTGTCTCCAGATGGAGATCAGACCACTGGACTCACCCTTCAGGCTCCCATGTTGATTGGTAATGGTTCAGCAGTCATAACTTTTTGATCATCCCCTGTGAGTAATAATTTGATCAAGTTCACCCATAAGCACTTTTTCCTGCCCGTTTTTTTTTTCTTTTTTTGGCAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCCCGGAATGCAGTGGCGTGATCATGGCTCACTGCAGCCTTTACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGGATTCAGGATCCTGAGTAGCTGGGACTACAGGTGCAAGCTGCCACACCCAGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAAGCTATAGTGCAGTAGCTCGATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGCAATTCTCATGCCTCAGCCTCTCGAGTTGCTGGGACTACAGGCACGTACCACCATGCCCAGCTGATGTTTGTATTTTTAGTAGAGAAGGGGTTTTGCCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTTCCCACCTTGGCCTCCCAAAGTGTTGGTATTACAGGCATGAGCCACCGTGAACATCCATGGCTAATTGTTTAAAAAAATTTTGTAGAGATGGGGCCTCCCTCTGTTCCCAAGGCTGGTCTCAAACTCCTGAGCTCAAGAGATCCTCCTGCCTGAGCCTTCCAAAGTGCTAGGATTATAGGCATGAGCCACTTCATGAGCCCTTTCTTATGTTAGATGCAGTACTTCCTTATAAAACCCACAAAACAGAAAATGAATAGAAATAACATCCAACATTTGAGCACCTGCTAAGCACTGCTATTTTAATTGTTTTAGATACTTAATN	pathogenic	13,910
Gene HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2) variant at chromosome 1, position 119764549—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic; ['3-hydroxy-3-methylglutaryl-CoA_synthase_deficiency']	ATACTCTTCTCTTTCCTCATCCCCTCCACTTTTCTCTGGAGTGATTCAGAACTCCCTGAGTCTCAGAGCCACTCCCTCCCACCTGAGGGTCCCCAGATGAATGACTGGCTAGGTCAGAAGCAGAGTTCTCATTCACACTGGCATCCTCTGGTCCTGGTGGTTACTGTCACCTGCAGGGTATGTAGTCCGAGTGTCCAGGCTCAAGCTTAGCTGTTTTTGTTTTAAATACAAACTAAAGATTCACATTTCAATAACTTGTTTTTTAAATTTTTACTTTTATACCTAGATACCACATTTTTTTAAAAGATGCATTTGCAACCCCATCTGTGGAATACCCAGCCCCTCAGAAGAATCTACGCATTTGAAATGGCATGCTTAAGGCTGACAATGCTCTCAAGAATAGGCTCTTTGATTTTTGGTTAAAGGCTGGTGAATGCCCCTTATTTTTCATTTCTACTCCTCAACTAAATAATTGGTTGGACATATCAGTGGTGGTAATGGTGGTAGGGGTTACTAGAGAGGTAGTAATACAAGTATCAAGTAGGAGAGGCACTTTAAGAACAGACTTGATGATGTAGACTGGACCATCCCATGTCAGTGGAATTGTTAATGATGGAGCCAGGTAGGGCAGTTGGAAAAGCCTGGAATGAACTTTTGTAATTGCACGGTCTTGCTGCATGTACAGAGATAAACTGTTACACTCCTCTTGACCTCTTTTTTCTAAAGCAAAAGATATTGAATTAGATGATCTCTGAGGACTCTGCCAATATTAAGGCTTTTTGATTAATTTTATAATTAATGCTTATCATGGTTTCTAAGGTTTTTAATCCTAGTTTCAAACTTAGTAAATATAGAGTGTCTTAACTACTGCCAACATACTGTTTTTTCACATCTTTATGAAAATTTCACATTTCTATGAATTATTTTATTCAGTCCTCTTATAAGTTAAGCAAGGCAGATAGGCAAATAACCCTGAGGCTCAAAGAGGTTCAGGAATTTATCAATGATTATTGATAGAGCTATGGCTTCAAGCTCTCATACTGTACTGTTTCCCTTGAATCATTTCTTGCTGTAACAACAGGGGTTAGTCCTCAAATATAGCACTGGGAGAAGATATAAGTAAGATACAAGGTAATGTTAATATGTTAAGCAAAAAGCAATATGCAAGGAGCCACCTAAGGGAGAAAGAGTAGAAATACTCACAGTCTATCTTGTGGTTTTCTGGGCCTGTTTCTATGAAGGTGTTTTTTTCCCGAACATCTAAACTTGCATACATCTTTCAACATCACCAATCTCTCAGAGACTTAGGACATGTTTAAGAGAAACAGGTACGGTAAAATAGGAAATATGTCAGATGTGGTTTGGCATTTTTGCCTCTGCCACTCACTATGTGTAAGCTATCAGATCTTCCATGTTCTCTTCTATAAATCTGGTATAATACACACTTCCTAGGCTGTTGTAAGAATTAAATGAATGGCTATGTGAACATGCTACCTAACTGTAAAGCTATATAAGTCTAAGTGGTTATTGTGGGATGATAGCAGCAGCTGTGTGAATATATTGTCCTTCCTTCACTAGATGAAGCCACCTGGGGAACTGAAAAGCAAAACTGGTAATATTCAGCCTCCAATTCCAGCACCTTTCTTACATAAGGTTCGTGGCCGTACATACCATCCCAGGAACTGGACTCCATCCAGTTGGCAGCATTGAAGAGGGAGGCAGTACCACCGTAGCAGGCATTGGTGGTATCTATGCCCTCAATATCAGTATTGCCTGAATCCTGGAAGAGTTCCATGAGCACTGTTTTGACAGCTTTGGACTTGTCAATGATGGTCTCAGTGCCTACTTCCAGCCTGCCCACAGAGTCCCATGGGAGCTGTATGCGCTCCATCAGCCGTTGCACCACCGTCAGGCACAGGGAGTTGATGTCCTCTTGGACTGAGCAGAAGCCCATACGGGTCTGGCCCAAGCCCACTGTATACTTTCCTGCTTCCACATTGTTATACTTCTCCAGGTCAGTTTGGTCCACATATTGGGCTGGGAAGTAGACCTCCAGGGCCAGGATGCCCACGTCCTTTGGCCAAGTATCTGTTTTGGCCAGGGGGACAGCAGAGGCTGTAGAAAACCTGTGATGGAGATAACAGTCAAACTCCCACTAATGGTCTGTAGACAATTTCCTCAAAAGACAGTAACATAGCAATCATTTAATTAATTTTCTATATTTTGAAGCTATGTTATCAGATGACTACAAATTTAGTATTGTTATTATCTTTTCATTGAATTGACCCTTCTATACTTATTAAATATCCCTTTTCATCTTTGTGATATTCTTGGCATAAAGTTTCCTTTCCTGACGTCGATATAGCTACACTAGCTTTTTGCTTACTGTTTCCATGGTACATCTTTTTCTGTCCCTTTTTACTTTCAACTTCTTAACGTCTTTATCTTTAACATACATCTCTTGTGATCGGTATATATATTTTAGTCCTTTAAAAAAATTTTAATAAGTCTAACAATAGTGGTGTTTTAATTTGAGTATTTCATCCATTTATATTTGTTGTAATTACTAATATAGTTGGAACTAAATCTTTTTTTTTCTCTTTTTTGAGACGGAGTCTCACTCTGTCACCCGGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGTGATCTCTGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGGTCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCGGAACTAAGTCTATTTTTTTATTTGTTTCTATTTGTCTCATTTGTTCTTTGTTCTTTTATTCCTCCTTTCCCATATCCTTTTAGAGTAAGCAAATATTTATTATTCATTTTATACCCTCTTTTCCTTTTACTGGTGACCTTAAAGATTATAACATGCATAATTGGCTTGTTGTAATCTTACTTAAATTAATACTTATCTTACTTTTGGAACACTGCAAAAACTTTAGGTTGACTTTATTTACTCTCTGCATCCTTTTGAACCATTATTGTCATATACTTTACTTCTACATGTTATAAGCCCTTATAGGGCATAATTATACAATCTTTACTCATTTTAAAAGTGTACCTCTAATTACATGTCTTTCTCCTTTCTTTTTTCTACACAAGAACATACCCACTGTTTTCCTACTTTTAAGTAAGTTTTCTGCTAGCTGATTTTTCTGATAGGGCCTTCCAATGTTTATTGAGCACACCCAACACAGTTCTAGTCCAAATACACAGCAGTGAATAAGACATGCATTGTGCCCATAAAGAGAGCACAGCCCAGTGAAAGAAGCAGACATTTTACAGCTAAATATGCAGGGAACACAGACAGCAGAAAGAGCAATTCTAAACGAGAGCAGAGGAAAAAAGGAAGGGGAAGGAGTCAGCAGAAGAAGGGAGAGATGATCTATTTCTTTTCTGGACCAATTCACTTCTCTTTAACCCAGATTCTTAATATCCCTGGCGAAAATCTGTGTTCCCTTTTGTATGGGAGCATACTGGAGGTGAACTTGGTGATCTCTGTACTGCTCCCATACAAAAGTACTTTATACCTTCTGTTCACTTTAGCAACATTCTTCATTTTATAGTTAGTGAAACCAAGGCACACACTGGTAAAGTGATGCACTCAGGGTAACTTCATAGTTTCTCACGTGTTAGAAATACTCTGTCCCTTCACTGCCCTGGGTGCCAGGCTTATAAATTTAGCTCCATTCTACGGGAGCTGGAACTCAGATTGAATGTGTCTATCAATCATCTTTGGGATTCTGAGCCTCTGGTAGAATTCTAGAGCCTCTCCCAGCAGCAAGGTCACTTCTAAGGACAGCTGTGAGGCAAAAGTGGATCATATGATCACAAGATAGTGAGGCAGAATGATAAATACACATTATATCTGACAGGAGAGGTTTGGAGTTTATTTATCTTCCCTATTTATTTGACTCCCT	ATACTCTTCTCTTTCCTCATCCCCTCCACTTTTCTCTGGAGTGATTCAGAACTCCCTGAGTCTCAGAGCCACTCCCTCCCACCTGAGGGTCCCCAGATGAATGACTGGCTAGGTCAGAAGCAGAGTTCTCATTCACACTGGCATCCTCTGGTCCTGGTGGTTACTGTCACCTGCAGGGTATGTAGTCCGAGTGTCCAGGCTCAAGCTTAGCTGTTTTTGTTTTAAATACAAACTAAAGATTCACATTTCAATAACTTGTTTTTTAAATTTTTACTTTTATACCTAGATACCACATTTTTTTAAAAGATGCATTTGCAACCCCATCTGTGGAATACCCAGCCCCTCAGAAGAATCTACGCATTTGAAATGGCATGCTTAAGGCTGACAATGCTCTCAAGAATAGGCTCTTTGATTTTTGGTTAAAGGCTGGTGAATGCCCCTTATTTTTCATTTCTACTCCTCAACTAAATAATTGGTTGGACATATCAGTGGTGGTAATGGTGGTAGGGGTTACTAGAGAGGTAGTAATACAAGTATCAAGTAGGAGAGGCACTTTAAGAACAGACTTGATGATGTAGACTGGACCATCCCATGTCAGTGGAATTGTTAATGATGGAGCCAGGTAGGGCAGTTGGAAAAGCCTGGAATGAACTTTTGTAATTGCACGGTCTTGCTGCATGTACAGAGATAAACTGTTACACTCCTCTTGACCTCTTTTTTCTAAAGCAAAAGATATTGAATTAGATGATCTCTGAGGACTCTGCCAATATTAAGGCTTTTTGATTAATTTTATAATTAATGCTTATCATGGTTTCTAAGGTTTTTAATCCTAGTTTCAAACTTAGTAAATATAGAGTGTCTTAACTACTGCCAACATACTGTTTTTTCACATCTTTATGAAAATTTCACATTTCTATGAATTATTTTATTCAGTCCTCTTATAAGTTAAGCAAGGCAGATAGGCAAATAACCCTGAGGCTCAAAGAGGTTCAGGAATTTATCAATGATTATTGATAGAGCTATGGCTTCAAGCTCTCATACTGTACTGTTTCCCTTGAATCATTTCTTGCTGTAACAACAGGGGTTAGTCCTCAAATATAGCACTGGGAGAAGATATAAGTAAGATACAAGGTAATGTTAATATGTTAAGCAAAAAGCAATATGCAAGGAGCCACCTAAGGGAGAAAGAGTAGAAATACTCACAGTCTATCTTGTGGTTTTCTGGGCCTGTTTCTATGAAGGTGTTTTTTTCCCGAACATCTAAACTTGCATACATCTTTCAACATCACCAATCTCTCAGAGACTTAGGACATGTTTAAGAGAAACAGGTACGGTAAAATAGGAAATATGTCAGATGTGGTTTGGCATTTTTGCCTCTGCCACTCACTATGTGTAAGCTATCAGATCTTCCATGTTCTCTTCTATAAATCTGGTATAATACACACTTCCTAGGCTGTTGTAAGAATTAAATGAATGGCTATGTGAACATGCTACCTAACTGTAAAGCTATATAAGTCTAAGTGGTTATTGTGGGATGATAGCAGCAGCTGTGTGAATATATTGTCCTTCCTTCACTAGATGAAGCCACCTGGGGAACTGAAAAGCAAAACTGGTAATATTCAGCCTCCAATTCCAGCACCTTTCTTACATAAGGTTCGTGGCCGTACATACCATCCCAGGAACTGGACTCCATCCAGTTGGCAGCATTGAAGAGGGAGGCAGTACCACCGTAGCAGGCATTGGTGGTATCTATGCCCTCAATATCAGTATTGCCTGAATCCTGGAAGAGTTCCATGAGCACTGTTTTGACAGCTTTGGACTTGTCAATGATGGTCTCAGTGCCTACTTCCAGCCTGCCCACAGAGTCCCATGGGAGCTGTATGCGCTCCATCAGCCGTTGCACCACCGTCAGGCACAGGGAGTTGATGTCCTCTTGGACTGAGCAGAAGCCCATACGGGTCTGGCCCAAGCCCACTGTATACTTTCCTGCTTCCACATTGTTATACTTCTCCAGGTCAGTTTGGTCCACATATTGGGCTGGGAAGTAGATTGGCCTCCAGGGCCATATTGGCCTCCAGGGCCAGGATGCCCACGTCCTTTGGCCAAGTATCTGTTTTGGCCAGGGGGACAGCAGAGGCTGTAGAAAACCTGTGATGGAGATAACAGTCAAACTCCCACTAATGGTCTGTAGACAATTTCCTCAAAAGACAGTAACATAGCAATCATTTAATTAATTTTCTATATTTTGAAGCTATGTTATCAGATGACTACAAATTTAGTATTGTTATTATCTTTTCATTGAATTGACCCTTCTATACTTATTAAATATCCCTTTTCATCTTTGTGATATTCTTGGCATAAAGTTTCCTTTCCTGACGTCGATATAGCTACACTAGCTTTTTGCTTACTGTTTCCATGGTACATCTTTTTCTGTCCCTTTTTACTTTCAACTTCTTAACGTCTTTATCTTTAACATACATCTCTTGTGATCGGTATATATATTTTAGTCCTTTAAAAAAATTTTAATAAGTCTAACAATAGTGGTGTTTTAATTTGAGTATTTCATCCATTTATATTTGTTGTAATTACTAATATAGTTGGAACTAAATCTTTTTTTTTCTCTTTTTTGAGACGGAGTCTCACTCTGTCACCCGGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGTGATCTCTGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGGTCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCGGAACTAAGTCTATTTTTTTATTTGTTTCTATTTGTCTCATTTGTTCTTTGTTCTTTTATTCCTCCTTTCCCATATCCTTTTAGAGTAAGCAAATATTTATTATTCATTTTATACCCTCTTTTCCTTTTACTGGTGACCTTAAAGATTATAACATGCATAATTGGCTTGTTGTAATCTTACTTAAATTAATACTTATCTTACTTTTGGAACACTGCAAAAACTTTAGGTTGACTTTATTTACTCTCTGCATCCTTTTGAACCATTATTGTCATATACTTTACTTCTACATGTTATAAGCCCTTATAGGGCATAATTATACAATCTTTACTCATTTTAAAAGTGTACCTCTAATTACATGTCTTTCTCCTTTCTTTTTTCTACACAAGAACATACCCACTGTTTTCCTACTTTTAAGTAAGTTTTCTGCTAGCTGATTTTTCTGATAGGGCCTTCCAATGTTTATTGAGCACACCCAACACAGTTCTAGTCCAAATACACAGCAGTGAATAAGACATGCATTGTGCCCATAAAGAGAGCACAGCCCAGTGAAAGAAGCAGACATTTTACAGCTAAATATGCAGGGAACACAGACAGCAGAAAGAGCAATTCTAAACGAGAGCAGAGGAAAAAAGGAAGGGGAAGGAGTCAGCAGAAGAAGGGAGAGATGATCTATTTCTTTTCTGGACCAATTCACTTCTCTTTAACCCAGATTCTTAATATCCCTGGCGAAAATCTGTGTTCCCTTTTGTATGGGAGCATACTGGAGGTGAACTTGGTGATCTCTGTACTGCTCCCATACAAAAGTACTTTATACCTTCTGTTCACTTTAGCAACATTCTTCATTTTATAGTTAGTGAAACCAAGGCACACACTGGTAAAGTGATGCACTCAGGGTAACTTCATAGTTTCTCACGTGTTAGAAATACTCTGTCCCTTCACTGCCCTGGGTGCCAGGCTTATAAATTTAGCTCCATTCTACGGGAGCTGGAACTCAGATTGAATGTGTCTATCAATCATCTTTGGGATTCTGAGCCTCTGGTAGAATTCTAGAGCCTCTCCCAGCAGCAAGGTCACTTCTAAGGACAGCTGTGAGGCAAAAGTGGATCATATGATCACAAGATAGTGAGGCAGAATGATAAATACACATTATATCTGACAGGAGAGGTTTGGAGTTTATTTATC	pathogenic	13,935
Benign or pathogenic: chromosome 1, position 119915812, gene NOTCH2 (notch receptor 2) variant? Disease(s) if pathogenic?	pathogenic; ['Hajdu-Cheney_syndrome', 'Monoclonal_B-Cell_Lymphocytosis']	GAGTTTCTACGTTAGTTGCCAAAGGGAATGTCATGGCCGCTTCAGAGGAAAAGAAATGGTAGCAGAAAATAGCAAAGGCTGCTATATAGTTCCTCCTTTTCCAACCTTCTTATAGGGCTGTTTTGGATCATAGAAAACAAGTCCAACTTTCCAATTCCTGCACTTGAACATATAAAGTCCATGTCTTCAGTGAGAACATACTGGGTATACCAGTAACACGGACCACACGGTGTGAAAGAAAGATTGGTGAGCAGGCCTTTAAGCAGCAAGATAATCAGTAGAGACTGATCATCTGACAAACGGAAGACAACTGTCACTGGGTCCCTTGGGCTAAGGAAAGTTCAGTCCTAAATGGCAAGGGTACAACATTTGAGACAGTGTCTTCTGTGGATATGAAAGGAAAGGCTCAACAGTTAAGACTAGTTTCATATGCTGGGTGAGTGAGTGAAACAGGCCTAGAATGCTCAGATCTGGGACAAATGTGTTCCATACAGGCAGTCAATGGAATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCCTGCCCCCAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTCTCCAGGAATGATATATGCAGGAGAACACAATACAGTATGTCCATTTTCCAAAGAAACAACATACTTGAAAGGTTTGTGCTGAGAACCATACCAAAGTAAACCTTGTGAGACTCCAAGGGATACCGGGAAGACAGGAGGGGAAAGGAGACCAAAGTTGCTTTCATGGGCCAGAATGATCAAAAGCACAAAGGTCTTGCCCTATAACATGCTGGTAGGGCTACAATCACGGAGAGGTGCAAAACCAAAAGCACCAAATGAAGACAAAAGAATGTCCAAGGAGGAGGAGATGCGTAGGTCAATTCAGGCAGAATTCCAGGGCATAATTCCCAACAGGACGCTAGTGTAGAATCTTCTCATGGATATGGCAGAAGCCTGCAGGGCTTAAAATGCAGTCCAAGCTGCAAGAATGTCTGGGCTTCAATAAGCATCCATCTTATTCTCCAAATAGAAGAGAGTAAACATGGACCCAAGGCTTGTATTCATCTTGCATTTCCACAAACTTGTCTTATTAGATTAGAATAATCAATAAGCCTTGCAGATACCCAGTGAAACTGACGAATTGCTTCTCTTGCATTATCTGAATAAGAACATCTTCTCTTTCCTACCTCTAGAAGCTGGCTCCAGAGATTTCTTCATTTCTCTCCCGGATGACCTTCATTTGTTCCTCAGCAGCATTTACAAAAGTCAGTTATGTCTCTACACTGGAGGTGGACTCTCTCACGCATAAACCTGCATGTTGTTGTGTGGTGGCTCAGACATGTGTGTCCCAGGTCCCCGCTGACCTCCTCCAGCACCCCCAGGGGTAGGGCTGGTGGTCACATCTGACCAGTCAGAAGCAGAGTGGGGTGATGAACTTGACCACTGGTCAGGAGACTCTGGGGATGGTGTCAGGTAGGGATGCTCACCCTGGAGGTGACCACTGTGACTGGGTGTTCGCTCAGCAGCATTTGAGGAAGCATAACTGTGCTGTGAAGGGGGTGTGGGGTACTTGCCCACAGAGGCTGGGAAAGGATGATAGGCTGGGAGAATGGTCTGAGCTACCTGCCCGTCCTGCTGGGGCATCATGGCAGTGGGGAAAGCCACACTGGGCAAACGGGCCATTTCTGGAATCTGGTACATGGTGGGCAGGGGGCCCGCAACAGCTGGAGGGCAGGTGGACTGAGGCTGGGGAGCCCCCGCTGGTTGGGCAATACTGCCTTTAGGGATGAGCTGGAAAGTCACAATGGGGGGCAAGGGCTCCCGAGGGGTGGTTATGTGCTTCCCTTCAGGTGGCCTGCTCTGGGGAGCTATGCCAGGATGGGTGCCCTCAGCTGGAGCCAGGACCATACCAAACATCTCATTGTACTGGGTCTCATTCACCTCCATGCGGTTCATCCAATCTGCTGGGACTGGGACTGGATGGAGCCTACTCAAGCTTCCAGCACTGCCACTGCCTGGAGACACAATGTGGTGGTGGGATAGCAACTGGCTCACTGAGGGAAGCACAGTGCTGGCCCCATGTGCCAAAGGCTGCATTTCATGAAGGTTAGAAAAAGATAGTGCATGCTGGGCATGGACTGGGGCAGGAGGGGCGGCAGTGGCCAACATAGGGTTGGGTGAGGCCTGTAAGATCCCAGGGGATGTAATCATTGGAGAGGATGTGGTGTCGGAAACATACGTGTGAGGAGATTCTAGGGAATCAACAGGGGATAAAGTTACTGAACTCTCAGACAGTTGGACCTTCTCACTCAGAGACTTCTTCCTCCTACTACCCTTGGCATCCTTTGCCTCCTTGGCAAGGTTAGGGAGGCTAGTAGGCATGGTACTCTTGGCACTGGGCCGTCTAGACTTCTTGCCCATTGGGGTGTGCTTCAGGCTGAGGAAAGATCTGTTGGGCCCACAGATGACAGGTGAGAGAGCAGAAGTCAACACGGTGCCTGGAGGGCTTGGGGTCACATTGTATTCATCCAGAAGGCGCACAATGTCATGGTGCATGCGATCCCGAGCCACATCCCGGGGAAGACGATCCATATGGTCTGTGATGTCTCGATTGGCAAAATGGTCTAACAGGATCTTGGCTGCTTCATAGCTCCCCTCCCGGGCAGCAAGAAACAGAGGTGTCTCTTCCTACAGAAAAGGCCCATCACAGAACACATGTTAATAACACTCTTGAGAATATAGCAGTTTTTCTCAATCTTTTTTATTATCACCCCCTTAGACATGTTTTCCTAATTATCTCCCCGATGAAATATTAACACCACAGATAGGCTGTGCCTCTACCAATGTACTGAATGTGTATCTGTGATTTACACATAAAAAAAGTAAGATTATTTCACCTCTCCTCAAAAAAACAATTTTGCCCCTTAGGGGGAACATCTCTTTAGTTGGGAATTCATAAAATAAAGCATGCCCCTGAGCCAGAGACTCACTTAAAAGAGTACTGAGCTTATCAAAATAAGGTTAAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAATAGGAGTTAGAAATAAGAAATAATAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAAGAGAAAAAACTAAGGCATGCACAGAACTGGGAAAAGTAAGGGAAACAGTGAAAGAAGAGACAAAACATGTGCAAGAAAGGACTAAGATAAGGAAAACAAAGAAAACTGAGAGAAGATGAATGAGAGAAGGAAGCAGGACAAAAAACTCAGATGGAGAAAAATCAAACAGGAAAACATCAGGGTATCCAAGGACAGAAAAAAAAGCAGCCGGAGGGAAAAAAGAAAGAAAACGAGAAAAAGAAGTGATTATGAACAGAAGAGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCAG	GAGTTTCTACGTTAGTTGCCAAAGGGAATGTCATGGCCGCTTCAGAGGAAAAGAAATGGTAGCAGAAAATAGCAAAGGCTGCTATATAGTTCCTCCTTTTCCAACCTTCTTATAGGGCTGTTTTGGATCATAGAAAACAAGTCCAACTTTCCAATTCCTGCACTTGAACATATAAAGTCCATGTCTTCAGTGAGAACATACTGGGTATACCAGTAACACGGACCACACGGTGTGAAAGAAAGATTGGTGAGCAGGCCTTTAAGCAGCAAGATAATCAGTAGAGACTGATCATCTGACAAACGGAAGACAACTGTCACTGGGTCCCTTGGGCTAAGGAAAGTTCAGTCCTAAATGGCAAGGGTACAACATTTGAGACAGTGTCTTCTGTGGATATGAAAGGAAAGGCTCAACAGTTAAGACTAGTTTCATATGCTGGGTGAGTGAGTGAAACAGGCCTAGAATGCTCAGATCTGGGACAAATGTGTTCCATACAGGCAGTCAATGGAATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCCTGCCCCCAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTCTCCAGGAATGATATATGCAGGAGAACACAATACAGTATGTCCATTTTCCAAAGAAACAACATACTTGAAAGGTTTGTGCTGAGAACCATACCAAAGTAAACCTTGTGAGACTCCAAGGGATACCGGGAAGACAGGAGGGGAAAGGAGACCAAAGTTGCTTTCATGGGCCAGAATGATCAAAAGCACAAAGGTCTTGCCCTATAACATGCTGGTAGGGCTACAATCACGGAGAGGTGCAAAACCAAAAGCACCAAATGAAGACAAAAGAATGTCCAAGGAGGAGGAGATGCGTAGGTCAATTCAGGCAGAATTCCAGGGCATAATTCCCAACAGGACGCTAGTGTAGAATCTTCTCATGGATATGGCAGAAGCCTGCAGGGCTTAAAATGCAGTCCAAGCTGCAAGAATGTCTGGGCTTCAATAAGCATCCATCTTATTCTCCAAATAGAAGAGAGTAAACATGGACCCAAGGCTTGTATTCATCTTGCATTTCCACAAACTTGTCTTATTAGATTAGAATAATCAATAAGCCTTGCAGATACCCAGTGAAACTGACGAATTGCTTCTCTTGCATTATCTGAATAAGAACATCTTCTCTTTCCTACCTCTAGAAGCTGGCTCCAGAGATTTCTTCATTTCTCTCCCGGATGACCTTCATTTGTTCCTCAGCAGCATTTACAAAAGTCAGTTATGTCTCTACACTGGAGGTGGACTCTCTCACGCATAAACCTGCATGTTGTTGTGTGGTGGCTCAGACATGTGTGTCCCAGGTCCCCGCTGACCTCCTCCAGCACCCCCAGGGGTAGGGCTGGTGGTCACATCTGACCAGTCAGAAGCAGAGTGGGGTGATGAACTTGACCACTGGTCAGGAGACTCTGGGGATGGTGTCAGGTAGGGATGCTCACCCTGGAGGTGACCACTGTGACTGGGTGTTCGCTCAGCAGCATTTGAGGAAGCATAACTGTGCTGTGAAGGGGGTGTGGGGTACTTGCCCACAGAGGCTGGGAAAGGATGATAGGCTGGGAGAATGGTCTGAGCTACCTGCCCGTCCTGCTGGGGCATCATGGCAGTGGGGAAAGCCACACTGGGCAAACGGGCCATTTCTGGAATCTGGTACATGGTGGGCAGGGGGCCCGCAACAGCTGGAGGGCAGGTGGACTGAGGCTGGGGAGCCCCCGCTGGTTGGGCAATACTGCCTTTAGGGATGAGCTGGAAAGTCACAATGGGGGGGCAAGGGCTCCCGAGGGGTGGTTATGTGCTTCCCTTCAGGTGGCCTGCTCTGGGGAGCTATGCCAGGATGGGTGCCCTCAGCTGGAGCCAGGACCATACCAAACATCTCATTGTACTGGGTCTCATTCACCTCCATGCGGTTCATCCAATCTGCTGGGACTGGGACTGGATGGAGCCTACTCAAGCTTCCAGCACTGCCACTGCCTGGAGACACAATGTGGTGGTGGGATAGCAACTGGCTCACTGAGGGAAGCACAGTGCTGGCCCCATGTGCCAAAGGCTGCATTTCATGAAGGTTAGAAAAAGATAGTGCATGCTGGGCATGGACTGGGGCAGGAGGGGCGGCAGTGGCCAACATAGGGTTGGGTGAGGCCTGTAAGATCCCAGGGGATGTAATCATTGGAGAGGATGTGGTGTCGGAAACATACGTGTGAGGAGATTCTAGGGAATCAACAGGGGATAAAGTTACTGAACTCTCAGACAGTTGGACCTTCTCACTCAGAGACTTCTTCCTCCTACTACCCTTGGCATCCTTTGCCTCCTTGGCAAGGTTAGGGAGGCTAGTAGGCATGGTACTCTTGGCACTGGGCCGTCTAGACTTCTTGCCCATTGGGGTGTGCTTCAGGCTGAGGAAAGATCTGTTGGGCCCACAGATGACAGGTGAGAGAGCAGAAGTCAACACGGTGCCTGGAGGGCTTGGGGTCACATTGTATTCATCCAGAAGGCGCACAATGTCATGGTGCATGCGATCCCGAGCCACATCCCGGGGAAGACGATCCATATGGTCTGTGATGTCTCGATTGGCAAAATGGTCTAACAGGATCTTGGCTGCTTCATAGCTCCCCTCCCGGGCAGCAAGAAACAGAGGTGTCTCTTCCTACAGAAAAGGCCCATCACAGAACACATGTTAATAACACTCTTGAGAATATAGCAGTTTTTCTCAATCTTTTTTATTATCACCCCCTTAGACATGTTTTCCTAATTATCTCCCCGATGAAATATTAACACCACAGATAGGCTGTGCCTCTACCAATGTACTGAATGTGTATCTGTGATTTACACATAAAAAAAGTAAGATTATTTCACCTCTCCTCAAAAAAACAATTTTGCCCCTTAGGGGGAACATCTCTTTAGTTGGGAATTCATAAAATAAAGCATGCCCCTGAGCCAGAGACTCACTTAAAAGAGTACTGAGCTTATCAAAATAAGGTTAAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAATAGGAGTTAGAAATAAGAAATAATAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAAGAGAAAAAACTAAGGCATGCACAGAACTGGGAAAAGTAAGGGAAACAGTGAAAGAAGAGACAAAACATGTGCAAGAAAGGACTAAGATAAGGAAAACAAAGAAAACTGAGAGAAGATGAATGAGAGAAGGAAGCAGGACAAAAAACTCAGATGGAGAAAAATCAAACAGGAAAACATCAGGGTATCCAAGGACAGAAAAAAAAGCAGCCGGAGGGAAAAAAGAAAGAAAACGAGAAAAAGAAGTGATTATGAACAGAAGAGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCA	pathogenic	13,950
Assess the variant on chromosome 1, position 119916271, impacting NOTCH2 (notch receptor 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['Alagille_syndrome_due_to_a_NOTCH2_point_mutation', 'Hajdu-Cheney_syndrome']	AATGCTCAGATCTGGGACAAATGTGTTCCATACAGGCAGTCAATGGAATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCCTGCCCCCAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTCTCCAGGAATGATATATGCAGGAGAACACAATACAGTATGTCCATTTTCCAAAGAAACAACATACTTGAAAGGTTTGTGCTGAGAACCATACCAAAGTAAACCTTGTGAGACTCCAAGGGATACCGGGAAGACAGGAGGGGAAAGGAGACCAAAGTTGCTTTCATGGGCCAGAATGATCAAAAGCACAAAGGTCTTGCCCTATAACATGCTGGTAGGGCTACAATCACGGAGAGGTGCAAAACCAAAAGCACCAAATGAAGACAAAAGAATGTCCAAGGAGGAGGAGATGCGTAGGTCAATTCAGGCAGAATTCCAGGGCATAATTCCCAACAGGACGCTAGTGTAGAATCTTCTCATGGATATGGCAGAAGCCTGCAGGGCTTAAAATGCAGTCCAAGCTGCAAGAATGTCTGGGCTTCAATAAGCATCCATCTTATTCTCCAAATAGAAGAGAGTAAACATGGACCCAAGGCTTGTATTCATCTTGCATTTCCACAAACTTGTCTTATTAGATTAGAATAATCAATAAGCCTTGCAGATACCCAGTGAAACTGACGAATTGCTTCTCTTGCATTATCTGAATAAGAACATCTTCTCTTTCCTACCTCTAGAAGCTGGCTCCAGAGATTTCTTCATTTCTCTCCCGGATGACCTTCATTTGTTCCTCAGCAGCATTTACAAAAGTCAGTTATGTCTCTACACTGGAGGTGGACTCTCTCACGCATAAACCTGCATGTTGTTGTGTGGTGGCTCAGACATGTGTGTCCCAGGTCCCCGCTGACCTCCTCCAGCACCCCCAGGGGTAGGGCTGGTGGTCACATCTGACCAGTCAGAAGCAGAGTGGGGTGATGAACTTGACCACTGGTCAGGAGACTCTGGGGATGGTGTCAGGTAGGGATGCTCACCCTGGAGGTGACCACTGTGACTGGGTGTTCGCTCAGCAGCATTTGAGGAAGCATAACTGTGCTGTGAAGGGGGTGTGGGGTACTTGCCCACAGAGGCTGGGAAAGGATGATAGGCTGGGAGAATGGTCTGAGCTACCTGCCCGTCCTGCTGGGGCATCATGGCAGTGGGGAAAGCCACACTGGGCAAACGGGCCATTTCTGGAATCTGGTACATGGTGGGCAGGGGGCCCGCAACAGCTGGAGGGCAGGTGGACTGAGGCTGGGGAGCCCCCGCTGGTTGGGCAATACTGCCTTTAGGGATGAGCTGGAAAGTCACAATGGGGGGCAAGGGCTCCCGAGGGGTGGTTATGTGCTTCCCTTCAGGTGGCCTGCTCTGGGGAGCTATGCCAGGATGGGTGCCCTCAGCTGGAGCCAGGACCATACCAAACATCTCATTGTACTGGGTCTCATTCACCTCCATGCGGTTCATCCAATCTGCTGGGACTGGGACTGGATGGAGCCTACTCAAGCTTCCAGCACTGCCACTGCCTGGAGACACAATGTGGTGGTGGGATAGCAACTGGCTCACTGAGGGAAGCACAGTGCTGGCCCCATGTGCCAAAGGCTGCATTTCATGAAGGTTAGAAAAAGATAGTGCATGCTGGGCATGGACTGGGGCAGGAGGGGCGGCAGTGGCCAACATAGGGTTGGGTGAGGCCTGTAAGATCCCAGGGGATGTAATCATTGGAGAGGATGTGGTGTCGGAAACATACGTGTGAGGAGATTCTAGGGAATCAACAGGGGATAAAGTTACTGAACTCTCAGACAGTTGGACCTTCTCACTCAGAGACTTCTTCCTCCTACTACCCTTGGCATCCTTTGCCTCCTTGGCAAGGTTAGGGAGGCTAGTAGGCATGGTACTCTTGGCACTGGGCCGTCTAGACTTCTTGCCCATTGGGGTGTGCTTCAGGCTGAGGAAAGATCTGTTGGGCCCACAGATGACAGGTGAGAGAGCAGAAGTCAACACGGTGCCTGGAGGGCTTGGGGTCACATTGTATTCATCCAGAAGGCGCACAATGTCATGGTGCATGCGATCCCGAGCCACATCCCGGGGAAGACGATCCATATGGTCTGTGATGTCTCGATTGGCAAAATGGTCTAACAGGATCTTGGCTGCTTCATAGCTCCCCTCCCGGGCAGCAAGAAACAGAGGTGTCTCTTCCTACAGAAAAGGCCCATCACAGAACACATGTTAATAACACTCTTGAGAATATAGCAGTTTTTCTCAATCTTTTTTATTATCACCCCCTTAGACATGTTTTCCTAATTATCTCCCCGATGAAATATTAACACCACAGATAGGCTGTGCCTCTACCAATGTACTGAATGTGTATCTGTGATTTACACATAAAAAAAGTAAGATTATTTCACCTCTCCTCAAAAAAACAATTTTGCCCCTTAGGGGGAACATCTCTTTAGTTGGGAATTCATAAAATAAAGCATGCCCCTGAGCCAGAGACTCACTTAAAAGAGTACTGAGCTTATCAAAATAAGGTTAAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAATAGGAGTTAGAAATAAGAAATAATAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAAGAGAAAAAACTAAGGCATGCACAGAACTGGGAAAAGTAAGGGAAACAGTGAAAGAAGAGACAAAACATGTGCAAGAAAGGACTAAGATAAGGAAAACAAAGAAAACTGAGAGAAGATGAATGAGAGAAGGAAGCAGGACAAAAAACTCAGATGGAGAAAAATCAAACAGGAAAACATCAGGGTATCCAAGGACAGAAAAAAAAGCAGCCGGAGGGAAAAAAGAAAGAAAACGAGAAAAAGAAGTGATTATGAACAGAAGAGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCAGCAGGAAGCAGTTCTCTGTAGGGGTCTATAGGAAAAACCAAAGTAATCTCTTCTTTTTCCTCTGTTCTAGAAATACTTCAGTACAGGCTGCCTAGCCTGCAGAAGACCTCTAGGTGAAAGGATCACTTGTATGAGGCATTCATGTCCCCTACATGGCAGAATCTACCCTGTTACATACTGAAGATAAAAACCTATATATTACATGTCAGAATTTATATTGAGAATATTCTACAACTCTCCTAGAGAAGTCAGCTCTCATAAATCCTCAAATCAAGTGTTATGCCTAGGAAACTACATGGGAACACCTTTCATGTATCTGCTCTGAGGTCCAAGAACCCTCATTAAAAATCCCTCATTTTAATTAGGGATCTCCTACTGGCTTGGATCTCTGAGCTCAGCATGTTAAATAAATGCATGAATGAAAGAATGAGTGAATCTCTCACGTATTTGGATCTCAGGC	AATGCTCAGATCTGGGACAAATGTGTTCCATACAGGCAGTCAATGGAATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCCTGCCCCCAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTCTCCAGGAATGATATATGCAGGAGAACACAATACAGTATGTCCATTTTCCAAAGAAACAACATACTTGAAAGGTTTGTGCTGAGAACCATACCAAAGTAAACCTTGTGAGACTCCAAGGGATACCGGGAAGACAGGAGGGGAAAGGAGACCAAAGTTGCTTTCATGGGCCAGAATGATCAAAAGCACAAAGGTCTTGCCCTATAACATGCTGGTAGGGCTACAATCACGGAGAGGTGCAAAACCAAAAGCACCAAATGAAGACAAAAGAATGTCCAAGGAGGAGGAGATGCGTAGGTCAATTCAGGCAGAATTCCAGGGCATAATTCCCAACAGGACGCTAGTGTAGAATCTTCTCATGGATATGGCAGAAGCCTGCAGGGCTTAAAATGCAGTCCAAGCTGCAAGAATGTCTGGGCTTCAATAAGCATCCATCTTATTCTCCAAATAGAAGAGAGTAAACATGGACCCAAGGCTTGTATTCATCTTGCATTTCCACAAACTTGTCTTATTAGATTAGAATAATCAATAAGCCTTGCAGATACCCAGTGAAACTGACGAATTGCTTCTCTTGCATTATCTGAATAAGAACATCTTCTCTTTCCTACCTCTAGAAGCTGGCTCCAGAGATTTCTTCATTTCTCTCCCGGATGACCTTCATTTGTTCCTCAGCAGCATTTACAAAAGTCAGTTATGTCTCTACACTGGAGGTGGACTCTCTCACGCATAAACCTGCATGTTGTTGTGTGGTGGCTCAGACATGTGTGTCCCAGGTCCCCGCTGACCTCCTCCAGCACCCCCAGGGGTAGGGCTGGTGGTCACATCTGACCAGTCAGAAGCAGAGTGGGGTGATGAACTTGACCACTGGTCAGGAGACTCTGGGGATGGTGTCAGGTAGGGATGCTCACCCTGGAGGTGACCACTGTGACTGGGTGTTCGCTCAGCAGCATTTGAGGAAGCATAACTGTGCTGTGAAGGGGGTGTGGGGTACTTGCCCACAGAGGCTGGGAAAGGATGATAGGCTGGGAGAATGGTCTGAGCTACCTGCCCGTCCTGCTGGGGCATCATGGCAGTGGGGAAAGCCACACTGGGCAAACGGGCCATTTCTGGAATCTGGTACATGGTGGGCAGGGGGCCCGCAACAGCTGGAGGGCAGGTGGACTGAGGCTGGGGAGCCCCCGCTGGTTGGGCAATACTGCCTTTAGGGATGAGCTGGAAAGTCACAATGGGGGGCAAGGGCTCCCGAGGGGTGGTTATGTGCTTCCCTTCAGGTGGCCTGCTCTGGGGAGCTATGCCAGGATGGGTGCCCTCAGCTGGAGCCAGGACCATACCAAACATCTCATTGTACTGGGTCTCATTCACCTCCATGCGGTTCATCCAATCTGCTGGGACTGGGACTGGATGGAGCCTACTCAAGCTTCCAGCACTGCCACTGCCTGGAGACACAATGTGGTGGTGGGATAGCAACTGGCTCACTGAGGGAAGCACAGTGCTGGCCCCATGTGCCAAAGGCTGCATTTCATGAAGGTTAGAAAAAGATAGTGCATGCTGGGCATGGACTGGGGCAGGAGGGGCGGCAGTGGCCAACATAGGGTTGGGTGAGGCCTGTAAGATCCCAGGGGATGTAATCATTGGAGAGGATGTGGTGTCGGAAACATACGTGTGAGGAGATTCTAGGGAATCAACGGGGATAAAGTTACTGAACTCTCAGACAGTTGGACCTTCTCACTCAGAGACTTCTTCCTCCTACTACCCTTGGCATCCTTTGCCTCCTTGGCAAGGTTAGGGAGGCTAGTAGGCATGGTACTCTTGGCACTGGGCCGTCTAGACTTCTTGCCCATTGGGGTGTGCTTCAGGCTGAGGAAAGATCTGTTGGGCCCACAGATGACAGGTGAGAGAGCAGAAGTCAACACGGTGCCTGGAGGGCTTGGGGTCACATTGTATTCATCCAGAAGGCGCACAATGTCATGGTGCATGCGATCCCGAGCCACATCCCGGGGAAGACGATCCATATGGTCTGTGATGTCTCGATTGGCAAAATGGTCTAACAGGATCTTGGCTGCTTCATAGCTCCCCTCCCGGGCAGCAAGAAACAGAGGTGTCTCTTCCTACAGAAAAGGCCCATCACAGAACACATGTTAATAACACTCTTGAGAATATAGCAGTTTTTCTCAATCTTTTTTATTATCACCCCCTTAGACATGTTTTCCTAATTATCTCCCCGATGAAATATTAACACCACAGATAGGCTGTGCCTCTACCAATGTACTGAATGTGTATCTGTGATTTACACATAAAAAAAGTAAGATTATTTCACCTCTCCTCAAAAAAACAATTTTGCCCCTTAGGGGGAACATCTCTTTAGTTGGGAATTCATAAAATAAAGCATGCCCCTGAGCCAGAGACTCACTTAAAAGAGTACTGAGCTTATCAAAATAAGGTTAAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAATAGGAGTTAGAAATAAGAAATAATAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAAGAGAAAAAACTAAGGCATGCACAGAACTGGGAAAAGTAAGGGAAACAGTGAAAGAAGAGACAAAACATGTGCAAGAAAGGACTAAGATAAGGAAAACAAAGAAAACTGAGAGAAGATGAATGAGAGAAGGAAGCAGGACAAAAAACTCAGATGGAGAAAAATCAAACAGGAAAACATCAGGGTATCCAAGGACAGAAAAAAAAGCAGCCGGAGGGAAAAAAGAAAGAAAACGAGAAAAAGAAGTGATTATGAACAGAAGAGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCAGCAGGAAGCAGTTCTCTGTAGGGGTCTATAGGAAAAACCAAAGTAATCTCTTCTTTTTCCTCTGTTCTAGAAATACTTCAGTACAGGCTGCCTAGCCTGCAGAAGACCTCTAGGTGAAAGGATCACTTGTATGAGGCATTCATGTCCCCTACATGGCAGAATCTACCCTGTTACATACTGAAGATAAAAACCTATATATTACATGTCAGAATTTATATTGAGAATATTCTACAACTCTCCTAGAGAAGTCAGCTCTCATAAATCCTCAAATCAAGTGTTATGCCTAGGAAACTACATGGGAACACCTTTCATGTATCTGCTCTGAGGTCCAAGAACCCTCATTAAAAATCCCTCATTTTAATTAGGGATCTCCTACTGGCTTGGATCTCTGAGCTCAGCATGTTAAATAAATGCATGAATGAAAGAATGAGTGAATCTCTCACGTATTTGGATCTCAGGCN	pathogenic	13,958
A genetic variant on chromosome 1, position 119916317, affects the gene NOTCH2 (notch receptor 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?	pathogenic; ['Hajdu-Cheney_syndrome', 'NOTCH2-related_disorder']	AATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCCTGCCCCCAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTCTCCAGGAATGATATATGCAGGAGAACACAATACAGTATGTCCATTTTCCAAAGAAACAACATACTTGAAAGGTTTGTGCTGAGAACCATACCAAAGTAAACCTTGTGAGACTCCAAGGGATACCGGGAAGACAGGAGGGGAAAGGAGACCAAAGTTGCTTTCATGGGCCAGAATGATCAAAAGCACAAAGGTCTTGCCCTATAACATGCTGGTAGGGCTACAATCACGGAGAGGTGCAAAACCAAAAGCACCAAATGAAGACAAAAGAATGTCCAAGGAGGAGGAGATGCGTAGGTCAATTCAGGCAGAATTCCAGGGCATAATTCCCAACAGGACGCTAGTGTAGAATCTTCTCATGGATATGGCAGAAGCCTGCAGGGCTTAAAATGCAGTCCAAGCTGCAAGAATGTCTGGGCTTCAATAAGCATCCATCTTATTCTCCAAATAGAAGAGAGTAAACATGGACCCAAGGCTTGTATTCATCTTGCATTTCCACAAACTTGTCTTATTAGATTAGAATAATCAATAAGCCTTGCAGATACCCAGTGAAACTGACGAATTGCTTCTCTTGCATTATCTGAATAAGAACATCTTCTCTTTCCTACCTCTAGAAGCTGGCTCCAGAGATTTCTTCATTTCTCTCCCGGATGACCTTCATTTGTTCCTCAGCAGCATTTACAAAAGTCAGTTATGTCTCTACACTGGAGGTGGACTCTCTCACGCATAAACCTGCATGTTGTTGTGTGGTGGCTCAGACATGTGTGTCCCAGGTCCCCGCTGACCTCCTCCAGCACCCCCAGGGGTAGGGCTGGTGGTCACATCTGACCAGTCAGAAGCAGAGTGGGGTGATGAACTTGACCACTGGTCAGGAGACTCTGGGGATGGTGTCAGGTAGGGATGCTCACCCTGGAGGTGACCACTGTGACTGGGTGTTCGCTCAGCAGCATTTGAGGAAGCATAACTGTGCTGTGAAGGGGGTGTGGGGTACTTGCCCACAGAGGCTGGGAAAGGATGATAGGCTGGGAGAATGGTCTGAGCTACCTGCCCGTCCTGCTGGGGCATCATGGCAGTGGGGAAAGCCACACTGGGCAAACGGGCCATTTCTGGAATCTGGTACATGGTGGGCAGGGGGCCCGCAACAGCTGGAGGGCAGGTGGACTGAGGCTGGGGAGCCCCCGCTGGTTGGGCAATACTGCCTTTAGGGATGAGCTGGAAAGTCACAATGGGGGGCAAGGGCTCCCGAGGGGTGGTTATGTGCTTCCCTTCAGGTGGCCTGCTCTGGGGAGCTATGCCAGGATGGGTGCCCTCAGCTGGAGCCAGGACCATACCAAACATCTCATTGTACTGGGTCTCATTCACCTCCATGCGGTTCATCCAATCTGCTGGGACTGGGACTGGATGGAGCCTACTCAAGCTTCCAGCACTGCCACTGCCTGGAGACACAATGTGGTGGTGGGATAGCAACTGGCTCACTGAGGGAAGCACAGTGCTGGCCCCATGTGCCAAAGGCTGCATTTCATGAAGGTTAGAAAAAGATAGTGCATGCTGGGCATGGACTGGGGCAGGAGGGGCGGCAGTGGCCAACATAGGGTTGGGTGAGGCCTGTAAGATCCCAGGGGATGTAATCATTGGAGAGGATGTGGTGTCGGAAACATACGTGTGAGGAGATTCTAGGGAATCAACAGGGGATAAAGTTACTGAACTCTCAGACAGTTGGACCTTCTCACTCAGAGACTTCTTCCTCCTACTACCCTTGGCATCCTTTGCCTCCTTGGCAAGGTTAGGGAGGCTAGTAGGCATGGTACTCTTGGCACTGGGCCGTCTAGACTTCTTGCCCATTGGGGTGTGCTTCAGGCTGAGGAAAGATCTGTTGGGCCCACAGATGACAGGTGAGAGAGCAGAAGTCAACACGGTGCCTGGAGGGCTTGGGGTCACATTGTATTCATCCAGAAGGCGCACAATGTCATGGTGCATGCGATCCCGAGCCACATCCCGGGGAAGACGATCCATATGGTCTGTGATGTCTCGATTGGCAAAATGGTCTAACAGGATCTTGGCTGCTTCATAGCTCCCCTCCCGGGCAGCAAGAAACAGAGGTGTCTCTTCCTACAGAAAAGGCCCATCACAGAACACATGTTAATAACACTCTTGAGAATATAGCAGTTTTTCTCAATCTTTTTTATTATCACCCCCTTAGACATGTTTTCCTAATTATCTCCCCGATGAAATATTAACACCACAGATAGGCTGTGCCTCTACCAATGTACTGAATGTGTATCTGTGATTTACACATAAAAAAAGTAAGATTATTTCACCTCTCCTCAAAAAAACAATTTTGCCCCTTAGGGGGAACATCTCTTTAGTTGGGAATTCATAAAATAAAGCATGCCCCTGAGCCAGAGACTCACTTAAAAGAGTACTGAGCTTATCAAAATAAGGTTAAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAATAGGAGTTAGAAATAAGAAATAATAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAAGAGAAAAAACTAAGGCATGCACAGAACTGGGAAAAGTAAGGGAAACAGTGAAAGAAGAGACAAAACATGTGCAAGAAAGGACTAAGATAAGGAAAACAAAGAAAACTGAGAGAAGATGAATGAGAGAAGGAAGCAGGACAAAAAACTCAGATGGAGAAAAATCAAACAGGAAAACATCAGGGTATCCAAGGACAGAAAAAAAAGCAGCCGGAGGGAAAAAAGAAAGAAAACGAGAAAAAGAAGTGATTATGAACAGAAGAGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCAGCAGGAAGCAGTTCTCTGTAGGGGTCTATAGGAAAAACCAAAGTAATCTCTTCTTTTTCCTCTGTTCTAGAAATACTTCAGTACAGGCTGCCTAGCCTGCAGAAGACCTCTAGGTGAAAGGATCACTTGTATGAGGCATTCATGTCCCCTACATGGCAGAATCTACCCTGTTACATACTGAAGATAAAAACCTATATATTACATGTCAGAATTTATATTGAGAATATTCTACAACTCTCCTAGAGAAGTCAGCTCTCATAAATCCTCAAATCAAGTGTTATGCCTAGGAAACTACATGGGAACACCTTTCATGTATCTGCTCTGAGGTCCAAGAACCCTCATTAAAAATCCCTCATTTTAATTAGGGATCTCCTACTGGCTTGGATCTCTGAGCTCAGCATGTTAAATAAATGCATGAATGAAAGAATGAGTGAATCTCTCACGTATTTGGATCTCAGGCAGTTCTCTAAGGGTCACGTAACTCTATTCCCCTCGTCAGAGGCATG	AATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCCTGCCCCCAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTCTCCAGGAATGATATATGCAGGAGAACACAATACAGTATGTCCATTTTCCAAAGAAACAACATACTTGAAAGGTTTGTGCTGAGAACCATACCAAAGTAAACCTTGTGAGACTCCAAGGGATACCGGGAAGACAGGAGGGGAAAGGAGACCAAAGTTGCTTTCATGGGCCAGAATGATCAAAAGCACAAAGGTCTTGCCCTATAACATGCTGGTAGGGCTACAATCACGGAGAGGTGCAAAACCAAAAGCACCAAATGAAGACAAAAGAATGTCCAAGGAGGAGGAGATGCGTAGGTCAATTCAGGCAGAATTCCAGGGCATAATTCCCAACAGGACGCTAGTGTAGAATCTTCTCATGGATATGGCAGAAGCCTGCAGGGCTTAAAATGCAGTCCAAGCTGCAAGAATGTCTGGGCTTCAATAAGCATCCATCTTATTCTCCAAATAGAAGAGAGTAAACATGGACCCAAGGCTTGTATTCATCTTGCATTTCCACAAACTTGTCTTATTAGATTAGAATAATCAATAAGCCTTGCAGATACCCAGTGAAACTGACGAATTGCTTCTCTTGCATTATCTGAATAAGAACATCTTCTCTTTCCTACCTCTAGAAGCTGGCTCCAGAGATTTCTTCATTTCTCTCCCGGATGACCTTCATTTGTTCCTCAGCAGCATTTACAAAAGTCAGTTATGTCTCTACACTGGAGGTGGACTCTCTCACGCATAAACCTGCATGTTGTTGTGTGGTGGCTCAGACATGTGTGTCCCAGGTCCCCGCTGACCTCCTCCAGCACCCCCAGGGGTAGGGCTGGTGGTCACATCTGACCAGTCAGAAGCAGAGTGGGGTGATGAACTTGACCACTGGTCAGGAGACTCTGGGGATGGTGTCAGGTAGGGATGCTCACCCTGGAGGTGACCACTGTGACTGGGTGTTCGCTCAGCAGCATTTGAGGAAGCATAACTGTGCTGTGAAGGGGGTGTGGGGTACTTGCCCACAGAGGCTGGGAAAGGATGATAGGCTGGGAGAATGGTCTGAGCTACCTGCCCGTCCTGCTGGGGCATCATGGCAGTGGGGAAAGCCACACTGGGCAAACGGGCCATTTCTGGAATCTGGTACATGGTGGGCAGGGGGCCCGCAACAGCTGGAGGGCAGGTGGACTGAGGCTGGGGAGCCCCCGCTGGTTGGGCAATACTGCCTTTAGGGATGAGCTGGAAAGTCACAATGGGGGGCAAGGGCTCCCGAGGGGTGGTTATGTGCTTCCCTTCAGGTGGCCTGCTCTGGGGAGCTATGCCAGGATGGGTGCCCTCAGCTGGAGCCAGGACCATACCAAACATCTCATTGTACTGGGTCTCATTCACCTCCATGCGGTTCATCCAATCTGCTGGGACTGGGACTGGATGGAGCCTACTCAAGCTTCCAGCACTGCCACTGCCTGGAGACACAATGTGGTGGTGGGATAGCAACTGGCTCACTGAGGGAAGCACAGTGCTGGCCCCATGTGCCAAAGGCTGCATTTCATGAAGGTTAGAAAAAGATAGTGCATGCTGGGCATGGACTGGGGCAGGAGGGGCGGCAGTGGCCAACATAGGGTTGGGTGAGGCCTGTAAGATCCCAGGGGATGTAATCATTGGAGAGGATGTGGTGTCGGAAACATACGTGTGAGGAGATTCTAGGGAATCAACAGGGGATAAAGTTACTGAACTCTCAGACAGTTGGACCTTCTCACTCAGACTTCTTCCTCCTACTACCCTTGGCATCCTTTGCCTCCTTGGCAAGGTTAGGGAGGCTAGTAGGCATGGTACTCTTGGCACTGGGCCGTCTAGACTTCTTGCCCATTGGGGTGTGCTTCAGGCTGAGGAAAGATCTGTTGGGCCCACAGATGACAGGTGAGAGAGCAGAAGTCAACACGGTGCCTGGAGGGCTTGGGGTCACATTGTATTCATCCAGAAGGCGCACAATGTCATGGTGCATGCGATCCCGAGCCACATCCCGGGGAAGACGATCCATATGGTCTGTGATGTCTCGATTGGCAAAATGGTCTAACAGGATCTTGGCTGCTTCATAGCTCCCCTCCCGGGCAGCAAGAAACAGAGGTGTCTCTTCCTACAGAAAAGGCCCATCACAGAACACATGTTAATAACACTCTTGAGAATATAGCAGTTTTTCTCAATCTTTTTTATTATCACCCCCTTAGACATGTTTTCCTAATTATCTCCCCGATGAAATATTAACACCACAGATAGGCTGTGCCTCTACCAATGTACTGAATGTGTATCTGTGATTTACACATAAAAAAAGTAAGATTATTTCACCTCTCCTCAAAAAAACAATTTTGCCCCTTAGGGGGAACATCTCTTTAGTTGGGAATTCATAAAATAAAGCATGCCCCTGAGCCAGAGACTCACTTAAAAGAGTACTGAGCTTATCAAAATAAGGTTAAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAATAGGAGTTAGAAATAAGAAATAATAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAAGAGAAAAAACTAAGGCATGCACAGAACTGGGAAAAGTAAGGGAAACAGTGAAAGAAGAGACAAAACATGTGCAAGAAAGGACTAAGATAAGGAAAACAAAGAAAACTGAGAGAAGATGAATGAGAGAAGGAAGCAGGACAAAAAACTCAGATGGAGAAAAATCAAACAGGAAAACATCAGGGTATCCAAGGACAGAAAAAAAAGCAGCCGGAGGGAAAAAAGAAAGAAAACGAGAAAAAGAAGTGATTATGAACAGAAGAGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCAGCAGGAAGCAGTTCTCTGTAGGGGTCTATAGGAAAAACCAAAGTAATCTCTTCTTTTTCCTCTGTTCTAGAAATACTTCAGTACAGGCTGCCTAGCCTGCAGAAGACCTCTAGGTGAAAGGATCACTTGTATGAGGCATTCATGTCCCCTACATGGCAGAATCTACCCTGTTACATACTGAAGATAAAAACCTATATATTACATGTCAGAATTTATATTGAGAATATTCTACAACTCTCCTAGAGAAGTCAGCTCTCATAAATCCTCAAATCAAGTGTTATGCCTAGGAAACTACATGGGAACACCTTTCATGTATCTGCTCTGAGGTCCAAGAACCCTCATTAAAAATCCCTCATTTTAATTAGGGATCTCCTACTGGCTTGGATCTCTGAGCTCAGCATGTTAAATAAATGCATGAATGAAAGAATGAGTGAATCTCTCACGTATTTGGATCTCAGGCAGTTCTCTAAGGGTCACGTAACTCTATTCCCCTCGTCAGAGGCATGNN	pathogenic	13,960
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 119919428, gene NOTCH2 (notch receptor 2). What disease(s) is it linked to if pathogenic?	pathogenic; ['Hajdu-Cheney_syndrome']	AGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCAGCAGGAAGCAGTTCTCTGTAGGGGTCTATAGGAAAAACCAAAGTAATCTCTTCTTTTTCCTCTGTTCTAGAAATACTTCAGTACAGGCTGCCTAGCCTGCAGAAGACCTCTAGGTGAAAGGATCACTTGTATGAGGCATTCATGTCCCCTACATGGCAGAATCTACCCTGTTACATACTGAAGATAAAAACCTATATATTACATGTCAGAATTTATATTGAGAATATTCTACAACTCTCCTAGAGAAGTCAGCTCTCATAAATCCTCAAATCAAGTGTTATGCCTAGGAAACTACATGGGAACACCTTTCATGTATCTGCTCTGAGGTCCAAGAACCCTCATTAAAAATCCCTCATTTTAATTAGGGATCTCCTACTGGCTTGGATCTCTGAGCTCAGCATGTTAAATAAATGCATGAATGAAAGAATGAGTGAATCTCTCACGTATTTGGATCTCAGGCAGTTCTCTAAGGGTCACGTAACTCTATTCCCCTCGTCAGAGGCATGCTTTGCAGGTAAGAATCCAAATCCCTGCCTTTCATCCCTACCATGGTCATCCACTGCATTCACATCCGCTTGGCAGTTGATCAGTTCTGCCACCATTCCCTCCACAGCCAGGCGGGCAGCCAGGATCAGGGGTGTAGTACCATCATTCATCCTGGCATCTAGATCAGTTACTCGGTTGCGAATCAGAATCTAGAAGAGGAGAAAGTACAGAAAAGAGAGTCACCTGGATGAAGGAAAATAATGAAACTCAGTGAAGAAACAAGGGCATCAGAGCTGAGGCTACAGTGTAGATTCCTGGAGGAGAGGGAAAGTCTTGTTATCTTTGTGCCCAAGATTCTATCATGATCAATCAATAAATATTTGTTGCATGAATAAATAAATACATGCTCAATAAATAATGGCTGATGTAAAGTGATGAGCCTTCTACTTTCTCAGGAAAGAAGAGGGATGTGGGGAAATATCACAACTTCAGTCAGGATACAGCCTAAGGTGATTCAGAATGCTTCCAATTTCCTCATAAGGATAAACAGGCATCAGGGAATATAATATGAACTCAGGTCAAGAAAACTGCCAATGAGCAGCTAGAAGCCCATACAGTCAGGCCAATCCATAAGAAGTAGCGGATACTAGTCAAAGGCTCCGGACCAGCTATCACTCTCATCTAATCTACGCATTTGGGAGGCATCTTGGCACAACAAATTATCACTAATAATCAGAAAGACTGGTGTTGTCTGCAGTTGGCTCTATCACTATCTTCCTATATATAGCTAGGTCAATTTGCCTGCCTCCCTTTTCCCACTTTCCCATCTACCAAGCATGACTCTAATACCTGCCCTAATCTCTCAAATGATTGAATAAATTCAATGAGATATTAATTCTTTAAAAACGATAAAACATTATAGAGCCATAGGAATTATTATTCAAGTGACTCTTCTCATGTTCTTTACCTGGAAGACACCTTGGGCATCAGCTGCCACTGCAGCATGGAGTGGACAGCGGCCCATGTTGTCCTGGGCATTGGCATCTGCACCTGCATCCAGGAGACGCTTGGCAGCATCAGCCCGTGAGTAGCGGGCTGCAAGGTGCAGGGCCATCTCACCAGTCCGGTCTGTCTGGGCCTGGAGGCTGGCACCCTGGTAGACCAAGTCTGTGATGATGTTAGCAGAAGAGTCCTCTGCATCTTCATCTTCATCACTCAAATCTGAGCTGCCTCCTCGGAGAGAAGCCAACATCAATGGGGTGCAGCCATCTGTAGGAATGGAAAATTCCATAAAGTACTCAAGAAGGAGAAGGTAGTTAACCCTATGGTTGAAACAGCTCTATTTGACTAAAGTTATTCTTAGGGGCAAAGAATTCCCTGTACTTCTTGTAGTAACTGGTTATTAGTTTCACATTTGCCACCTTTTCCTCTGATAGTATCATTTCTGTAAAGAATAATGGGAAAGTACAAGTCTTTTTAAGCTGGGGGCTCTTCTCTAAACACGTTTTTCTGTTCAAGTTTAAGTGCTGTTATTTTAATTGGACATTTAAAAATATCTAATATTAATAGAACAATTAATACATGCATAAGATACTAACTATCCTCTGCTTTGGGATATTATTTTTCTATCCCACTACAATCTAACCCATTTTATCAGCCTGTTTAGTCTCAACACACTGTACATGAAGCAATGTGAAATCCTTCCCTTTCTGAGCTGATAATTTCTTTGTGGCTACATTCCTTAAGCATTCATTTCCTCGAGCTGATTTAGAGTCTGTGAAATTGGGAAGGGGTTTATGACTGGACAGGGCAAACACAGGGACAACAATGTGGAACCATGGGCAGACACAGCCCAGTGAAGAGGGGAAGAGGCCCGGTGCTGACCTGGGCCACGGACATTCACATCTAACACATCCACCTCCTGCTCTGCCTGAGGAGGGGTGAGAGCCAGCGATGGTGTCCTACGGATGTCTGCAGCTTCAAGGTGCTGCTGTGTCCATGGCCGTCGATCAATGGGGTCATCTTCTTCTGAGAGTAAGGCCTCATCTTCAGCCTGAAAGGTGAAAACAATGCTCCCTATCAATCTGGCCACCACCAGAAACTGCTAATCAGAAGGTGTCCAGAGCCTCCACCACCGCTGCTTATCTCCCATTGTTTTCTCTCTTCCTACTCCTCCACCCCTCCAGAGGATTACCTCAGCCTTGGCTTCCCACTGCTCTCGTGATGTGGCTCCTGCTTACCTTTCCTGCATCATCTAGACAACTCCCTCCCCCAATCCCAAACTCTAGGCTTTAGCCTTTAGATCTCCAGAGCACCCAATTCTCACTTTTCCTACCCTCCACTAGAAAGTAAACTTTAATTCTTCTTGTTGGCCCTAAAAAGCATACTCTGCTTACCTCTGCTTAACTGATCATGTGTTAAATGCTTACACAGCACTACATGGCCATCTCCACCACAAGGCTGTAAGCTTCTCAAGAAGGGAAAATAAGCCTTGTTCAAGGTTGTTTCCTTGTACTCAACATAGCACCCAACATGTAGTAAGCACTCAGGAAAGACTATTCAATAATAATAATCATGATAATTTAAAAGCAGCTACCCTTTACTGAATACCTAGTACATGACAGGAAAGTAGATAAGGCACATATGCCAACACAACAACTCACAGAGGAAAGGGTTATTATTATCCGCATTTTACAAGGAAGGATAATTACAAAGAGGTTAAGTAACTTGCCAGCTACTAAGCGGCAGAGTTTTGGATTTGAATCCAGTTCTGATATTAACTAAAGCAATCTTCTTAACCATCATGCTCCACCAGCTCCCAGCCATGCACAGCTGTGGATGGATGGTCTGCTTTTTCATGTCAGTCTCAGCCCAATCTACCACTTGCTTTTATATGGCTTTAGTTTCCTGGGCTCAAGGTATGGAGCCTCCAATGTCAACGTTTTGCCATGATCACTGGCTTTCATTTTGCCAATGTCAATGATAACTGGCTTTCTTCCACTGCTTAATTTCATCTTCTCTTATAGAAGAAGTGCCCATAAAGGATAAGGAAGAGATGTGGCCATGAAGGAATTGCCATCTACACACACCATTCCTGACTTGACTACTGCCAGCATAACACTAAAGGAAAC	AGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCAGCAGGAAGCAGTTCTCTGTAGGGGTCTATAGGAAAAACCAAAGTAATCTCTTCTTTTTCCTCTGTTCTAGAAATACTTCAGTACAGGCTGCCTAGCCTGCAGAAGACCTCTAGGTGAAAGGATCACTTGTATGAGGCATTCATGTCCCCTACATGGCAGAATCTACCCTGTTACATACTGAAGATAAAAACCTATATATTACATGTCAGAATTTATATTGAGAATATTCTACAACTCTCCTAGAGAAGTCAGCTCTCATAAATCCTCAAATCAAGTGTTATGCCTAGGAAACTACATGGGAACACCTTTCATGTATCTGCTCTGAGGTCCAAGAACCCTCATTAAAAATCCCTCATTTTAATTAGGGATCTCCTACTGGCTTGGATCTCTGAGCTCAGCATGTTAAATAAATGCATGAATGAAAGAATGAGTGAATCTCTCACGTATTTGGATCTCAGGCAGTTCTCTAAGGGTCACGTAACTCTATTCCCCTCGTCAGAGGCATGCTTTGCAGGTAAGAATCCAAATCCCTGCCTTTCATCCCTACCATGGTCATCCACTGCATTCACATCCGCTTGGCAGTTGATCAGTTCTGCCACCATTCCCTCCACAGCCAGGCGGGCAGCCAGGATCAGGGGTGTAGTACCATCATTCATCCTGGCATCTAGATCAGTTACTCGGTTGCGAATCAGAATCTAGAAGAGGAGAAAGTACAGAAAAGAGAGTCACCTGGATGAAGGAAAATAATGAAACTCAGTGAAGAAACAAGGGCATCAGAGCTGAGGCTACAGTGTAGATTCCTGGAGGAGAGGGAAAGTCTTGTTATCTTTGTGCCCAAGATTCTATCATGATCAATCAATAAATATTTGTTGCATGAATAAATAAATACATGCTCAATAAATAATGGCTGATGTAAAGTGATGAGCCTTCTACTTTCTCAGGAAAGAAGAGGGATGTGGGGAAATATCACAACTTCAGTCAGGATACAGCCTAAGGTGATTCAGAATGCTTCCAATTTCCTCATAAGGATAAACAGGCATCAGGGAATATAATATGAACTCAGGTCAAGAAAACTGCCAATGAGCAGCTAGAAGCCCATACAGTCAGGCCAATCCATAAGAAGTAGCGGATACTAGTCAAAGGCTCCGGACCAGCTATCACTCTCATCTAATCTACGCATTTGGGAGGCATCTTGGCACAACAAATTATCACTAATAATCAGAAAGACTGGTGTTGTCTGCAGTTGGCTCTATCACTATCTTCCTATATATAGCTAGGTCAATTTGCCTGCCTCCCTTTTCCCACTTTCCCATCTACCAAGCATGACTCTAATACCTGCCCTAATCTCTCAAATGATTGAATAAATTCAATGAGATATTAATTCTTTAAAAACGATAAAACATTATAGAGCCATAGGAATTATTATTCAAGTGACTCTTCTCATGTTCTTTACCTGGAAGACACCTTGGGCATCAGCTGCCACTGCAGCATGGAGTGGACAGCGGCCCATGTTGTCCTGGGCATTGGCATCTGCACCTGCATCCAGGAGACGCTTGGCAGCATCAGCCCGTTGAGTAGCGGGCTGCAAGGTGCAGGGCCATCTCACCAGTCCGGTCTGTCTGGGCCTGGAGGCTGGCACCCTGGTAGACCAAGTCTGTGATGATGTTAGCAGAAGAGTCCTCTGCATCTTCATCTTCATCACTCAAATCTGAGCTGCCTCCTCGGAGAGAAGCCAACATCAATGGGGTGCAGCCATCTGTAGGAATGGAAAATTCCATAAAGTACTCAAGAAGGAGAAGGTAGTTAACCCTATGGTTGAAACAGCTCTATTTGACTAAAGTTATTCTTAGGGGCAAAGAATTCCCTGTACTTCTTGTAGTAACTGGTTATTAGTTTCACATTTGCCACCTTTTCCTCTGATAGTATCATTTCTGTAAAGAATAATGGGAAAGTACAAGTCTTTTTAAGCTGGGGGCTCTTCTCTAAACACGTTTTTCTGTTCAAGTTTAAGTGCTGTTATTTTAATTGGACATTTAAAAATATCTAATATTAATAGAACAATTAATACATGCATAAGATACTAACTATCCTCTGCTTTGGGATATTATTTTTCTATCCCACTACAATCTAACCCATTTTATCAGCCTGTTTAGTCTCAACACACTGTACATGAAGCAATGTGAAATCCTTCCCTTTCTGAGCTGATAATTTCTTTGTGGCTACATTCCTTAAGCATTCATTTCCTCGAGCTGATTTAGAGTCTGTGAAATTGGGAAGGGGTTTATGACTGGACAGGGCAAACACAGGGACAACAATGTGGAACCATGGGCAGACACAGCCCAGTGAAGAGGGGAAGAGGCCCGGTGCTGACCTGGGCCACGGACATTCACATCTAACACATCCACCTCCTGCTCTGCCTGAGGAGGGGTGAGAGCCAGCGATGGTGTCCTACGGATGTCTGCAGCTTCAAGGTGCTGCTGTGTCCATGGCCGTCGATCAATGGGGTCATCTTCTTCTGAGAGTAAGGCCTCATCTTCAGCCTGAAAGGTGAAAACAATGCTCCCTATCAATCTGGCCACCACCAGAAACTGCTAATCAGAAGGTGTCCAGAGCCTCCACCACCGCTGCTTATCTCCCATTGTTTTCTCTCTTCCTACTCCTCCACCCCTCCAGAGGATTACCTCAGCCTTGGCTTCCCACTGCTCTCGTGATGTGGCTCCTGCTTACCTTTCCTGCATCATCTAGACAACTCCCTCCCCCAATCCCAAACTCTAGGCTTTAGCCTTTAGATCTCCAGAGCACCCAATTCTCACTTTTCCTACCCTCCACTAGAAAGTAAACTTTAATTCTTCTTGTTGGCCCTAAAAAGCATACTCTGCTTACCTCTGCTTAACTGATCATGTGTTAAATGCTTACACAGCACTACATGGCCATCTCCACCACAAGGCTGTAAGCTTCTCAAGAAGGGAAAATAAGCCTTGTTCAAGGTTGTTTCCTTGTACTCAACATAGCACCCAACATGTAGTAAGCACTCAGGAAAGACTATTCAATAATAATAATCATGATAATTTAAAAGCAGCTACCCTTTACTGAATACCTAGTACATGACAGGAAAGTAGATAAGGCACATATGCCAACACAACAACTCACAGAGGAAAGGGTTATTATTATCCGCATTTTACAAGGAAGGATAATTACAAAGAGGTTAAGTAACTTGCCAGCTACTAAGCGGCAGAGTTTTGGATTTGAATCCAGTTCTGATATTAACTAAAGCAATCTTCTTAACCATCATGCTCCACCAGCTCCCAGCCATGCACAGCTGTGGATGGATGGTCTGCTTTTTCATGTCAGTCTCAGCCCAATCTACCACTTGCTTTTATATGGCTTTAGTTTCCTGGGCTCAAGGTATGGAGCCTCCAATGTCAACGTTTTGCCATGATCACTGGCTTTCATTTTGCCAATGTCAATGATAACTGGCTTTCTTCCACTGCTTAATTTCATCTTCTCTTATAGAAGAAGTGCCCATAAAGGATAAGGAAGAGATGTGGCCATGAAGGAATTGCCATCTACACACACCATTCCTGACTTGACTACTGCCAGCATAACACTAAAGGAAA	pathogenic	13,967
The mutation in gene NOTCH2 (notch receptor 2) at chromosome 1, position 119923739—clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Alagille_syndrome_due_to_a_NOTCH2_point_mutation']	GGTTCTACCATGGCCACCTCACCTTTACTTTCTTTGGCTGGGGCCCTTCATCATCGACCCAGTGTTCACTTGTTCCAGTACCAATTAGGTTAGCTTCTGAGACTTGCACTGAGAGATTTCTAATATGATTATAAAAAGAAAAAATAAGAATGGCAGTCATAAACTAATACAGTGGTTTTCAACACTTTCCACCATGACACACTCCCGTGGCTATATTACAATTTTGCAGGGTCTTGGCCCAGAGAAGATGGGCAGTATTTTTGGTGACATTCCCTTGGCATTCATCCTTTCCCTTCCCATTGATCGTGAGCTTACAACAAAAGGGCACCTCAACACAGAAGCTGGGCGGCATTGTGATAATATACACAGAATAGATGCACCCACGCTCTGACTGTGGTTTCAGTCACTCACAAGGCATTTAGAATCATGGTCAATGTGAGTAAATGCCCAGAGCTTAGAATTTAAAATCATGATTCAACAAGATATGCTTTTCTAGTCATCCCTACTTATACTGTGAATAGTGGCTTATTGGCAATGCCTCTTACTTCAGCCCCACAGCATCCTGTCCCACTGGCTCACGACGCTTGTGATTGCTTGCATCTCGGCGAAGAGTGAAACCTTCAGGCAGCCAGAGAGAGCCATGCTTACGCTTTCGTTTTGCCATGATTACCCCCAGCAGAATAATAAACAGAATGATGACAACAGCAACAGCAAGGAGATAGAGGAGCTGAGTGCGTTCTGGAGTCAGGGATTCACCTGAAAGTCCACAGAGACAGGGAAAGTGCTGAATAAAACATTAACCTCTCAATGTCAGCATTAGATTCATTTAGAGGGCAACTTTGACCTCAACAGTCCTGAAAAAATAGAGGGCTACATAATGAAAATTGTTCCCCCAATTGACACTCTTCCCCCGCCACCTTTCCCCTTTACACCAGTGCCACTCACTGACGACAGACACAAGAGGGTATGACAGGGTCCCCTGTATGGCGTGAGAGGCCAGGAGAGCTGCTGCTGCATCCGTGTTCTTGAAGCAGTGGTCTGAGTCTTGAACACACTGGCGGTTGTCAATTTCCAGAAAGACTTTAGAGCTGTGGGATGCCAAGGGAGAAGCGGAGGAGGAGAGATGGGGGTAAAACAGAAGAGTGCAGGTCAGGCAGAACATGTCATAAAGGGTGACAGGAGCCTCCCTTCCTCCCCTTCAGCATCAGGTCCCCACCTCTGGGATGCTGCCTTAAGACATATCTCAGGAATTAGAATACTGTCCCTTGAGATCTTAAACACTAATTCCCACATAGAGGATGTCCCACCTTCCTTAGTCTGGCTGACCAAAGCCTTCTGGCTGAGGCAATGCATGACAAAGTGAGAAGCTGTGCTTTCCTCCCGAAGGTTTCAGTGGTCTTCTTCCACTCTTTCATACCTACTCAGTGGTACTTGGTGCTACTCTAAACATACATCCCTGTGTGTTTTTAGTCCTTATTTTCCTTTGTCTCTGCATTGGTATCTCAGCTAGCTGGAGGGTTGAAAGTTTGACAATATACCAACAAAGAGTGAGGTGTGAATGACAGAGCAACTGAAGATCATTACCTGTGTCAAAGAGACATATATTCTAAAGAAGGGCCTTAACAATAAGGCAATGATTAATGTAAAAAGGAATGTCACTAATAAAGGGATTTGAGGCAACTCTGGCAAAAGGTTATGGATTCTGGCATCTGAGGAGGCCTTCCAGACATTCTGCCTCCTGTGTACCCCTGCCCACTTTTCAGCCAAGACGAAGGCATATCTTTACATTTAAACGTAAGTACTGGGGTAACGGGTTTATCTTAAGTGGTGGGCCATTCTATTTTTCTGATCTTTGCATTTCTATAGGTTGAGTTATGACTTGTGCTATATGTCAAAGTGCTAGGCTTCATAAAATTAGCCTTGAAGTTCAGAAACCAAACACCTACCCAGCCACCTCCTGTTCTTGTTCACCAGGAAGGGATCTGCGTGTCATCCTCTGTTTCTTCATAGCAGCTGACTTCTCACCATAATAGGGGTACACCATGAGTTCCCCCTGGGAGTCCCGCTTAATGCGCAGGTTGGTGTGGAGCAGGGTACCCAGTGCCCGCAAGAAGCTGCGAGCATCCTGGAGCAGTTGTTCAGGTGGCATCAATACCACAATAACCAGGGTACCTTCTGCCAGGTTCTCAGGTTGGTCAGCAGCACAGTCCAGCCCATCCCAACCACACTCCTCACTGTTGCACCCCTGGTCACAGTGGTTGTCTTTGAAGTGGTCTGCACAGTATTTGTCATACCTAGGTAAGGGGAAGCAGAGAACAGGCAAAAGAGCTCAGATTAGACTGGAGCTCTATTTGCTTTTTCATTTGGAACTACTGTGGATTTTCCTACCCATTTTCTGTGGCCCACACCCAGGACCCAAATGCCCCACAAAACCTTCTTTGCATCTCCTATCCCTGATGCCTATGCCACTCATCCTTGTTGAGTACTTCCTAAATGAAGAACATTGTACTCACTATGCTGCAGGAGCTTAGGGGCTCCCAGGCAGTTTACAAGCCTGTTAAGTCAGGTTTTCAAACAAAGCTGCATATCTGAAACAAAAGTCAACCTGGTTCATGCTTCCTCTACTTTAGAGAAATCCATTGCCCCCAGTAAGGTAACAACGGGCTTTAGGAAGTGAAAGATGCCTCTAGAAACTTGATACAAGGCCCTGAACCATTGAGAGTTGCCATACAGAGAACAATATTAACATGACCCATTTCTTTCCCTTTCAAGAGTGAATCCCAACTACAGAAGGTAAAGGCAGATGGGTATGTCCTTATAGCACACCAGATATTACTTGTACAGGCTCTTTCAATATTTGGAAAAGGAATTAGAACCCCCAAACCTAAATGATGTACAAACTATTCCATCTATACTCTCCTCTCCTCATCCCCTACCCCTTGATATTTATACTATTTGGTACAACTTTTCATGCTAGCTCAATCAGAAGATTAGGAGTCAAAGAAACAACTTGCTTTGGCAAGTTCTTTAACCCTTGGGCCTAAGTTCTCTCACCTATGAAAGAATGTTAGTAATACCTATGCCTCGTGAGTTGCTGAGAATTAATTGGGATTAAATTATATGGAATGGCTAGTTAATAGGAAAGTTCCTAAGTAAACCATAGAGCATCCTATACAATTAAGACCGGGAGGGTTCACAGACTTAATCTAATTCATGCTTCCTGATAAATCTAGATGGGGAAAAACAGTCTTAGGGAAAGGAATGGGGTGAAGAGAGAGATACAGACCTTTCCATCCATCCTGCAGGCAGGTTATGTGAGAGGCTGCTTGAAGTGGGAAACACCACTTCCAAAAGTTATATCCCCCAGGAGGTCACGAAGGCAGCAGGTGAGAAGGCAAAGATAGGCAGAGAGAGAGGGTCATTATGCAATGAGCATTCCTGGCCCATTGTCAGCAAGGGAGAGCACAGGGCAGTGTGCGATGGGACAAGGCTGGCACCATCTGAAAAGCAGAGGCAGCTTAGGCTGAAGCACTGGAGTGGTTAGGAGCAAGAACGAGAAACTGAAGTGTGTTAGTGACAGTCCCCTTCAGTTCTGGAAAACGTGAAGCCCTTACTTGCATGTCTTGCTGTTCCCCTGGCATTCAAAGTTGTCAAACAGGCACTCGACCGTGTTGCACAGCTCATCACACTGGTTGTTGATATAATCCCAGCAGGGAAGTGGGGAGGAGCAGTTGGCCCAGGGGTTCTCCATGGTGAGAGAACAGTCACCCCCATCCCACTGGCAGGCATGGCTGTTGCAGGCCTCATCACAGACGCCATCCCGAGCTTTGTCGGCACAATACTGGCTCAGACAGGTGGCAGGAGGGGTGCTGGGGGGTGCCGTGTAGAGTTCACAGCGGCTACCCGAGAATGGTGGGGCACACTGGCAGGAGTAATAAGGAGGCTGGCGCTGAGGGTGGCAGCTGCCCCCGTGCTGGCAGGGGCTACTGGCACAGCCTGACTCGCAGTCCCGGGGACTGGGGCAGAAGCAGCGGGGTCCAGAGGCGGTGTGCACACACTGCTCCCCCTTCCTACATTTCACTTGTCCACAGCTGCT	GGTTCTACCATGGCCACCTCACCTTTACTTTCTTTGGCTGGGGCCCTTCATCATCGACCCAGTGTTCACTTGTTCCAGTACCAATTAGGTTAGCTTCTGAGACTTGCACTGAGAGATTTCTAATATGATTATAAAAAGAAAAAATAAGAATGGCAGTCATAAACTAATACAGTGGTTTTCAACACTTTCCACCATGACACACTCCCGTGGCTATATTACAATTTTGCAGGGTCTTGGCCCAGAGAAGATGGGCAGTATTTTTGGTGACATTCCCTTGGCATTCATCCTTTCCCTTCCCATTGATCGTGAGCTTACAACAAAAGGGCACCTCAACACAGAAGCTGGGCGGCATTGTGATAATATACACAGAATAGATGCACCCACGCTCTGACTGTGGTTTCAGTCACTCACAAGGCATTTAGAATCATGGTCAATGTGAGTAAATGCCCAGAGCTTAGAATTTAAAATCATGATTCAACAAGATATGCTTTTCTAGTCATCCCTACTTATACTGTGAATAGTGGCTTATTGGCAATGCCTCTTACTTCAGCCCCACAGCATCCTGTCCCACTGGCTCACGACGCTTGTGATTGCTTGCATCTCGGCGAAGAGTGAAACCTTCAGGCAGCCAGAGAGAGCCATGCTTACGCTTTCGTTTTGCCATGATTACCCCCAGCAGAATAATAAACAGAATGATGACAACAGCAACAGCAAGGAGATAGAGGAGCTGAGTGCGTTCTGGAGTCAGGGATTCACCTGAAAGTCCACAGAGACAGGGAAAGTGCTGAATAAAACATTAACCTCTCAATGTCAGCATTAGATTCATTTAGAGGGCAACTTTGACCTCAACAGTCCTGAAAAAATAGAGGGCTACATAATGAAAATTGTTCCCCCAATTGACACTCTTCCCCCGCCACCTTTCCCCTTTACACCAGTGCCACTCACTGACGACAGACACAAGAGGGTATGACAGGGTCCCCTGTATGGCGTGAGAGGCCAGGAGAGCTGCTGCTGCATCCGTGTTCTTGAAGCAGTGGTCTGAGTCTTGAACACACTGGCGGTTGTCAATTTCCAGAAAGACTTTAGAGCTGTGGGATGCCAAGGGAGAAGCGGAGGAGGAGAGATGGGGGTAAAACAGAAGAGTGCAGGTCAGGCAGAACATGTCATAAAGGGTGACAGGAGCCTCCCTTCCTCCCCTTCAGCATCAGGTCCCCACCTCTGGGATGCTGCCTTAAGACATATCTCAGGAATTAGAATACTGTCCCTTGAGATCTTAAACACTAATTCCCACATAGAGGATGTCCCACCTTCCTTAGTCTGGCTGACCAAAGCCTTCTGGCTGAGGCAATGCATGACAAAGTGAGAAGCTGTGCTTTCCTCCCGAAGGTTTCAGTGGTCTTCTTCCACTCTTTCATACCTACTCAGTGGTACTTGGTGCTACTCTAAACATACATCCCTGTGTGTTTTTAGTCCTTATTTTCCTTTGTCTCTGCATTGGTATCTCAGCTAGCTGGAGGGTTGAAAGTTTGACAATATACCAACAAAGAGTGAGGTGTGAATGACAGAGCAACTGAAGATCATTACCTGTGTCAAAGAGACATATATTCTAAAGAAGGGCCTTAACAATAAGGCAATGATTAATGTAAAAAGGAATGTCACTAATAAAGGGATTTGAGGCAACTCTGGCAAAAGGTTATGGATTCTGGCATCTGAGGAGGCCTTCCAGACATTCTGCCTCCTGTGTACCCCTGCCCACTTTTCAGCCAAGACGAAGGCATATCTTTACATTTAAACGTAAGTACTGGGGTAACGGGTTTATCTTAAGTGGTGGGCCATTCTATTTTTCTGATCTTTGCATTTCTATAGGTTGAGTTATGACTTGTGCTATATGTCAAAGTGCTAGGCTTCATAAAATTAGCCTTGAAGTTCAGAAACCAAACACCTACCCAGCCACCTCCTGTTCTTGTTCACCAGGAAGGGATCTGCGTGTCATCCTCTGTTTCTTCATAGCAGCTGACTTCTCACCATAATAGGGGTACACCATGAGTTCCCCTGGGAGTCCCGCTTAATGCGCAGGTTGGTGTGGAGCAGGGTACCCAGTGCCCGCAAGAAGCTGCGAGCATCCTGGAGCAGTTGTTCAGGTGGCATCAATACCACAATAACCAGGGTACCTTCTGCCAGGTTCTCAGGTTGGTCAGCAGCACAGTCCAGCCCATCCCAACCACACTCCTCACTGTTGCACCCCTGGTCACAGTGGTTGTCTTTGAAGTGGTCTGCACAGTATTTGTCATACCTAGGTAAGGGGAAGCAGAGAACAGGCAAAAGAGCTCAGATTAGACTGGAGCTCTATTTGCTTTTTCATTTGGAACTACTGTGGATTTTCCTACCCATTTTCTGTGGCCCACACCCAGGACCCAAATGCCCCACAAAACCTTCTTTGCATCTCCTATCCCTGATGCCTATGCCACTCATCCTTGTTGAGTACTTCCTAAATGAAGAACATTGTACTCACTATGCTGCAGGAGCTTAGGGGCTCCCAGGCAGTTTACAAGCCTGTTAAGTCAGGTTTTCAAACAAAGCTGCATATCTGAAACAAAAGTCAACCTGGTTCATGCTTCCTCTACTTTAGAGAAATCCATTGCCCCCAGTAAGGTAACAACGGGCTTTAGGAAGTGAAAGATGCCTCTAGAAACTTGATACAAGGCCCTGAACCATTGAGAGTTGCCATACAGAGAACAATATTAACATGACCCATTTCTTTCCCTTTCAAGAGTGAATCCCAACTACAGAAGGTAAAGGCAGATGGGTATGTCCTTATAGCACACCAGATATTACTTGTACAGGCTCTTTCAATATTTGGAAAAGGAATTAGAACCCCCAAACCTAAATGATGTACAAACTATTCCATCTATACTCTCCTCTCCTCATCCCCTACCCCTTGATATTTATACTATTTGGTACAACTTTTCATGCTAGCTCAATCAGAAGATTAGGAGTCAAAGAAACAACTTGCTTTGGCAAGTTCTTTAACCCTTGGGCCTAAGTTCTCTCACCTATGAAAGAATGTTAGTAATACCTATGCCTCGTGAGTTGCTGAGAATTAATTGGGATTAAATTATATGGAATGGCTAGTTAATAGGAAAGTTCCTAAGTAAACCATAGAGCATCCTATACAATTAAGACCGGGAGGGTTCACAGACTTAATCTAATTCATGCTTCCTGATAAATCTAGATGGGGAAAAACAGTCTTAGGGAAAGGAATGGGGTGAAGAGAGAGATACAGACCTTTCCATCCATCCTGCAGGCAGGTTATGTGAGAGGCTGCTTGAAGTGGGAAACACCACTTCCAAAAGTTATATCCCCCAGGAGGTCACGAAGGCAGCAGGTGAGAAGGCAAAGATAGGCAGAGAGAGAGGGTCATTATGCAATGAGCATTCCTGGCCCATTGTCAGCAAGGGAGAGCACAGGGCAGTGTGCGATGGGACAAGGCTGGCACCATCTGAAAAGCAGAGGCAGCTTAGGCTGAAGCACTGGAGTGGTTAGGAGCAAGAACGAGAAACTGAAGTGTGTTAGTGACAGTCCCCTTCAGTTCTGGAAAACGTGAAGCCCTTACTTGCATGTCTTGCTGTTCCCCTGGCATTCAAAGTTGTCAAACAGGCACTCGACCGTGTTGCACAGCTCATCACACTGGTTGTTGATATAATCCCAGCAGGGAAGTGGGGAGGAGCAGTTGGCCCAGGGGTTCTCCATGGTGAGAGAACAGTCACCCCCATCCCACTGGCAGGCATGGCTGTTGCAGGCCTCATCACAGACGCCATCCCGAGCTTTGTCGGCACAATACTGGCTCAGACAGGTGGCAGGAGGGGTGCTGGGGGGTGCCGTGTAGAGTTCACAGCGGCTACCCGAGAATGGTGGGGCACACTGGCAGGAGTAATAAGGAGGCTGGCGCTGAGGGTGGCAGCTGCCCCCGTGCTGGCAGGGGCTACTGGCACAGCCTGACTCGCAGTCCCGGGGACTGGGGCAGAAGCAGCGGGGTCCAGAGGCGGTGTGCACACACTGCTCCCCCTTCCTACATTTCACTTGTCCACAGCTGCTN	pathogenic	13,985
Variant in NOTCH2 (notch receptor 2), chromosome 1, position 119935616—is this benign or pathogenic? If pathogenic, what disease(s) is linked?	benign	GATTAACAGCATATTTCTCATTAAAAACCATGGATATCAGAAAGCAGTGGGATGATATATTCAAAGTGCTGAAAGAAAAAGACTGTCAATGATAATATCAAAACTAGTATTCTAAGCCATCTTTACCATATGGTTAGAAGAGACAAAAATTTTGTTTCCTTCTGAAATGATCCATTCTAGGACTGGACATGTCTTATTAATTAAAAGTTCATGGTATAGTAGTGATTTTAGAGTTTGATGAATACTCATGTACTCTCCTATATTTCCCAGCCTCCCTTGAAGTCACAGAGACCATTTAATAATTCCGGTCAATATACTGCGAGGGATAGTGATATGTGTTGCTTCCAGACTGAGCTAGTGGAAGCTGCTGTATGACCCTTCAAGTCTGTCCCTCTTCCCTGTACTGTGGAGGCCTTGGAGGCCAGGTGTTTCAAACCACATATCTAAAACACAGAGAAAGGTAGCCCAACACATATTCGACTTTATTTGAGTGACAAAATCAGTGTTATATTAAGCTCTGAGATTTGAGGTTTAATTAGCTGCTATAGCTTGAAGTTTGACTGCACCAAACCACATGTTAAAATGTGATCTCCAATGTTGGAGGTGGGGCCTAATGGGAGGTGTTTGGGTCCCTGGATCTTCTTCACTTTTCACCATGAGTGGAAACAGCCTGACGCTCACACCAGAGGCAGATGCTGGCACCGTGCTTCCTGTACAGCCTATAGAACTGCGAGCCAAATATACCTCTTTCGAAAAATAAATTACTTAGTCTCAGGTATTCTTTTATAGCAACATAAATGAACTACGATAACAGCTATCACCAGAATCGTAGCTTGTCCTAACCAGTACAGTTTCTCAAAGGAACAAACTAACAATGAACTGGAATTAATTTCTACTCAACCACTGATTTCTAGAATAAAGAACAATTCTCCTTTTTACAGGACAATTCTTCAAATACTTAAAGACTGTTTCTCCTTAGTTTTCTTCTTCCCATTAACCTCATTCCTTAATAATCAGCCTACTACTAGGGTACTCTCCTATTTTAATTTAGTCAAACTCTGATACCTGGGGTGGCAAATTATCAAACTTTACTGACACAAAGCTCTAAGGCAATACAAATACTTCTCTGGCATTCTATTCTCTTTGACACTAACAAGGATGAATTTCTCACCAGTGTGGATGGCCTTTTACATTTTTTTCACAGCCTTCTCAGAGTAGGCCCCAGCATAACTACATCCCTTCTAACAAACAATACTCAAAGCTCTTTCCAAGGGATGGTTCAAAAGCAGTGTCAATGTCCACAGCAGAATGATGGCCATACCACTCAGTTCAAAAGCAGTGGCAATGCCCACAGAAGAATGATGGCCCCATCACTCAACAGTCCAGGGTTGCATCTCTCATCAGGCCTTACTGCATCCTAAGGTAGAACCTTACACCATCAGTATCCTCCCCTGAAGCTATGAAAATAGGCAGATATTTTCATTTCATTCATTCCCCCACCTTATAGAGGTAAGACTTGGCTAATTAAAAAAATACAAAAGCAGGTAAATGTAAATTGTTTATTTTAGAGGCCATTAGTTGCTTTTCTGTGAAGCAACAAGAAATCTTACTGACCAGGCTAATTTTTTAATGTTATGCTAATGTTGTATCCCTTCCATATTCTGTGTTTCATGGAATATCAAGATGCCAAACAACCAGATAAAACTGACAACATAAACCACAACATCAGAGCTAGCAAGAGATGGGAGAATAAAATGGCTTGAATTACTAGGATGTAGAACTAAATGCTTGGAATGAAGCTAGTCTTCCTATCTTTAATTTTATAAAATCCCCTGAACACTAAGAATGGATTTATAACTTAAGACAATGCCCTGGATGGAAAATGGATAAGGATGATTTCATACCCCGAGTGCCTGGTGGGCAAGAGCACTTGAAATGGTTCACAAGGTCAATACAGGTGCCTCCATTCTGGCAGGGCTGATTCTGGCACTCATCCACTTCATACTCACAGTTGACACCCTGATAGCCTGGGACACACTGCCATGAGGAAACAAAAAGGACAAGAAATATTGGACCATTACTGGAAACAGACCATGAGAGCTAGTGAGATCTGGAACATTTCTGTGACTGTCTCCCACCTCCTAATTTAGCTTTTGTATGTTTTCTCTGGAACCATCACACTCTCTGCTAATCATTCTATGCAGGGACAGAAAACCTGCAGCTTACTGGCATTTACCTACTCCTCTTTCAGTTGAAAAAGGCACTTTAAAGGGAAGGCAAGGACTGAATACAATGAAGGATGTTTCAGATTTGACTTGTGTGCAAACCTTTTGTTCCTCCTGGGTACAGGTTTCCTCATCTTTAAAATACACATTCCTCCGTATGTGATGAGGACCCTATGACTCGGTCAAAAGGCATATGTGGATGGTAGTACAGACATGCAATTATTGATCTCCAGGTTTAGGAAATTGGATCTATGTGTGAGAAACTGGTTGAGATAGGCTTAGGGGTAGAGGGAGGTGGGGCTGGCTGGCTGGCTGTGGTGGCTGTAGGGGTTGGAAGGATTTCAGGGCTGACCAAGAAAAAAGATATGGCTGTGAGGTGGCTTTATTTGGACACTTTGACAGGTTTGCACCTGGGAGAAGTCCCAAATAGCATGAGACCTTCCAGAGGGGTAGGTGAGTAAGGGGAAGACAGCAAGTAAACTCTGGGAAAGAAGGATCAGAGAAGGAGTCTAGGTGATGTCACTCAACAGCCAGTGGCAGGAATCTCTGGGTCAGAGAGCTCTAAAGGCCAGCATCAGCCTGGGGTCTGTATGGCCCCAGGGTATATCTTGTCCTACTTATACTATGGCTAGCAGATTTTGGCTGCAGTTTTACAGGCTATGCAAAGCAGGCAAGCTCTAAATAGCTAAAAATCTGCTTATTTGGGGGCTATGTTTAAAACAACTAGATGTGTCAAAATTTGGGTTTGGCACTGGTAGGCTTTTGAGCTAATGAGACCCAGCCCCAGCCTGCTGTGAAGAAATAAACAACCTAGGGGCCAAAATACAGAAGCTATCGTTGGCTCATTTATATAACAATAGAGAAGCAAAGCTTTTCTCAGTGTTGCTTGATGGTTTGAATTGGTATCAAATTAATGTCTCAGGCATTTTGCTAATATCTTGCTTGCTCTAACCATTATCAGCCCAGACATTAAAATAGTGACATGTACCTTGAAGACACATACTTCCTCAAATATATACATGTAACGTTTAGCATGATGCTATGGGGAACAGGATGAGCAACATTTTTTTTTTTTGAGAGAAAATTGCTAGTTGACTGATTAATGACTAAATACAAAGGTGACAGGGGCCAAAGGGACACTCCACAAAGCAGTTTTTCCTATCTCAGCTGCTATTCAGGGAAGTGTGGACTGCTATGTTGGGTGGGCCTGTAAAATGCACTCTGGTAGTGACTCTTGGCTCTGAATCCTAAAAGCAAGCCTAAGGAGCTGGGATGGTTCCAGACGCCTATAAAAATATCATACTAGGGACCTGTTAACTTATTGCACAGAGAGGCTGAAAGAAACAGTGGTAAACATTATGACGGGGATTGGTAAAAATCTATAAACTATCAATATAAGATACAAGCAGCTAAATTCAATATATCAGTGCTCAAACAGTTGTACAATCTCCTGGGAGGTCCATGACCTCTGCTTGCTCAGTGTCCTCACCTCGCATCTGTATCCACCAATGAAGTCACTGCATGTTGCCCCGTGCTGGCAGGGGTTGGACGCACACTCATCGAGTTGCTCCTCACAGTAGCTCCCAGTATAGCCCAGGGGGCACTGACAGTAATGCGTGTTGCCAGCATTGATGCAGACACCTGAGTGCTGGCACAAGTGTTCAACAAGCACACCTGGGAAACCCAGTGAGGGAGAAATGTCATAGAAGAACATGTGACACATGGGGTTCAAATCAACCAATGAGCAAGTAAATCTAAACTGGCTGACACATCCAATCTTATTCTTAGCCAGTTCTTCACAACCCTCAGTACCAGATGCATATTAAAAATAAACCCTGAAAGTGGAATATACCTTAGTTTCATTTCAAATA	GATTAACAGCATATTTCTCATTAAAAACCATGGATATCAGAAAGCAGTGGGATGATATATTCAAAGTGCTGAAAGAAAAAGACTGTCAATGATAATATCAAAACTAGTATTCTAAGCCATCTTTACCATATGGTTAGAAGAGACAAAAATTTTGTTTCCTTCTGAAATGATCCATTCTAGGACTGGACATGTCTTATTAATTAAAAGTTCATGGTATAGTAGTGATTTTAGAGTTTGATGAATACTCATGTACTCTCCTATATTTCCCAGCCTCCCTTGAAGTCACAGAGACCATTTAATAATTCCGGTCAATATACTGCGAGGGATAGTGATATGTGTTGCTTCCAGACTGAGCTAGTGGAAGCTGCTGTATGACCCTTCAAGTCTGTCCCTCTTCCCTGTACTGTGGAGGCCTTGGAGGCCAGGTGTTTCAAACCACATATCTAAAACACAGAGAAAGGTAGCCCAACACATATTCGACTTTATTTGAGTGACAAAATCAGTGTTATATTAAGCTCTGAGATTTGAGGTTTAATTAGCTGCTATAGCTTGAAGTTTGACTGCACCAAACCACATGTTAAAATGTGATCTCCAATGTTGGAGGTGGGGCCTAATGGGAGGTGTTTGGGTCCCTGGATCTTCTTCACTTTTCACCATGAGTGGAAACAGCCTGACGCTCACACCAGAGGCAGATGCTGGCACCGTGCTTCCTGTACAGCCTATAGAACTGCGAGCCAAATATACCTCTTTCGAAAAATAAATTACTTAGTCTCAGGTATTCTTTTATAGCAACATAAATGAACTACGATAACAGCTATCACCAGAATCGTAGCTTGTCCTAACCAGTACAGTTTCTCAAAGGAACAAACTAACAATGAACTGGAATTAATTTCTACTCAACCACTGATTTCTAGAATAAAGAACAATTCTCCTTTTTACAGGACAATTCTTCAAATACTTAAAGACTGTTTCTCCTTAGTTTTCTTCTTCCCATTAACCTCATTCCTTAATAATCAGCCTACTACTAGGGTACTCTCCTATTTTAATTTAGTCAAACTCTGATACCTGGGGTGGCAAATTATCAAACTTTACTGACACAAAGCTCTAAGGCAATACAAATACTTCTCTGGCATTCTATTCTCTTTGACACTAACAAGGATGAATTTCTCACCAGTGTGGATGGCCTTTTACATTTTTTTCACAGCCTTCTCAGAGTAGGCCCCAGCATAACTACATCCCTTCTAACAAACAATACTCAAAGCTCTTTCCAAGGGATGGTTCAAAAGCAGTGTCAATGTCCACAGCAGAATGATGGCCATACCACTCAGTTCAAAAGCAGTGGCAATGCCCACAGAAGAATGATGGCCCCATCACTCAACAGTCCAGGGTTGCATCTCTCATCAGGCCTTACTGCATCCTAAGGTAGAACCTTACACCATCAGTATCCTCCCCTGAAGCTATGAAAATAGGCAGATATTTTCATTTCATTCATTCCCCCACCTTATAGAGGTAAGACTTGGCTAATTAAAAAAATACAAAAGCAGGTAAATGTAAATTGTTTATTTTAGAGGCCATTAGTTGCTTTTCTGTGAAGCAACAAGAAATCTTACTGACCAGGCTAATTTTTTAATGTTATGCTAATGTTGTATCCCTTCCATATTCTGTGTTTCATGGAATATCAAGATGCCAAACAACCAGATAAAACTGACAACATAAACCACAACATCAGAGCTAGCAAGAGATGGGAGAATAAAATGGCTTGAATTACTAGGATGTAGAACTAAATGCTTGGAATGAAGCTAGTCTTCCTATCTTTAATTTTATAAAATCCCCTGAACACTAAGAATGGATTTATAACTTAAGACAATGCCCTGGATGGAAAATGGATAAGGATGATTTCATACCCCGAGTGCCTGGTGGGCAAGAGCACTTGAAATGGTTCACAAGGTCAATACAGGTGCCTCCATTCTGGCAGGGCTGATTCTGGCACTCATCCACTTCATACTCACAGTTGACACCCTGATAGCCTGGGACACACTGCCATGAGGAAAAAAGGACAAGAAATATTGGACCATTACTGGAAACAGACCATGAGAGCTAGTGAGATCTGGAACATTTCTGTGACTGTCTCCCACCTCCTAATTTAGCTTTTGTATGTTTTCTCTGGAACCATCACACTCTCTGCTAATCATTCTATGCAGGGACAGAAAACCTGCAGCTTACTGGCATTTACCTACTCCTCTTTCAGTTGAAAAAGGCACTTTAAAGGGAAGGCAAGGACTGAATACAATGAAGGATGTTTCAGATTTGACTTGTGTGCAAACCTTTTGTTCCTCCTGGGTACAGGTTTCCTCATCTTTAAAATACACATTCCTCCGTATGTGATGAGGACCCTATGACTCGGTCAAAAGGCATATGTGGATGGTAGTACAGACATGCAATTATTGATCTCCAGGTTTAGGAAATTGGATCTATGTGTGAGAAACTGGTTGAGATAGGCTTAGGGGTAGAGGGAGGTGGGGCTGGCTGGCTGGCTGTGGTGGCTGTAGGGGTTGGAAGGATTTCAGGGCTGACCAAGAAAAAAGATATGGCTGTGAGGTGGCTTTATTTGGACACTTTGACAGGTTTGCACCTGGGAGAAGTCCCAAATAGCATGAGACCTTCCAGAGGGGTAGGTGAGTAAGGGGAAGACAGCAAGTAAACTCTGGGAAAGAAGGATCAGAGAAGGAGTCTAGGTGATGTCACTCAACAGCCAGTGGCAGGAATCTCTGGGTCAGAGAGCTCTAAAGGCCAGCATCAGCCTGGGGTCTGTATGGCCCCAGGGTATATCTTGTCCTACTTATACTATGGCTAGCAGATTTTGGCTGCAGTTTTACAGGCTATGCAAAGCAGGCAAGCTCTAAATAGCTAAAAATCTGCTTATTTGGGGGCTATGTTTAAAACAACTAGATGTGTCAAAATTTGGGTTTGGCACTGGTAGGCTTTTGAGCTAATGAGACCCAGCCCCAGCCTGCTGTGAAGAAATAAACAACCTAGGGGCCAAAATACAGAAGCTATCGTTGGCTCATTTATATAACAATAGAGAAGCAAAGCTTTTCTCAGTGTTGCTTGATGGTTTGAATTGGTATCAAATTAATGTCTCAGGCATTTTGCTAATATCTTGCTTGCTCTAACCATTATCAGCCCAGACATTAAAATAGTGACATGTACCTTGAAGACACATACTTCCTCAAATATATACATGTAACGTTTAGCATGATGCTATGGGGAACAGGATGAGCAACATTTTTTTTTTTTGAGAGAAAATTGCTAGTTGACTGATTAATGACTAAATACAAAGGTGACAGGGGCCAAAGGGACACTCCACAAAGCAGTTTTTCCTATCTCAGCTGCTATTCAGGGAAGTGTGGACTGCTATGTTGGGTGGGCCTGTAAAATGCACTCTGGTAGTGACTCTTGGCTCTGAATCCTAAAAGCAAGCCTAAGGAGCTGGGATGGTTCCAGACGCCTATAAAAATATCATACTAGGGACCTGTTAACTTATTGCACAGAGAGGCTGAAAGAAACAGTGGTAAACATTATGACGGGGATTGGTAAAAATCTATAAACTATCAATATAAGATACAAGCAGCTAAATTCAATATATCAGTGCTCAAACAGTTGTACAATCTCCTGGGAGGTCCATGACCTCTGCTTGCTCAGTGTCCTCACCTCGCATCTGTATCCACCAATGAAGTCACTGCATGTTGCCCCGTGCTGGCAGGGGTTGGACGCACACTCATCGAGTTGCTCCTCACAGTAGCTCCCAGTATAGCCCAGGGGGCACTGACAGTAATGCGTGTTGCCAGCATTGATGCAGACACCTGAGTGCTGGCACAAGTGTTCAACAAGCACACCTGGGAAACCCAGTGAGGGAGAAATGTCATAGAAGAACATGTGACACATGGGGTTCAAATCAACCAATGAGCAAGTAAATCTAAACTGGCTGACACATCCAATCTTATTCTTAGCCAGTTCTTCACAACCCTCAGTACCAGATGCATATTAAAAATAAACCCTGAAAGTGGAATATACCTTAGTTTCATTTCAAATANNN	benign	14,009
Variant on chromosome 1, at position 120069388, affecting NOTCH2 (notch receptor 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).	benign	ACACTCAACTTGACTACCTAAAAGCTAGCTAATAATCGCAGCACCTCAGCAGAGCAGAGGTGGAGGGCATAGTTTTATGCACTGAGATCCTATAATAAAAGAAGCCCTATGTGTCAGAGTAATCCCATTTCTGATATCATATTATTTAATACTTAATTTTTCAAATCACTTTACAATTATATTTATTATTCCCTACAATTCTCTAAAGCAGGTTATTCCTTTAGTCCTGCTTCATAGGTGAGGAGACTACATATCATGAAGATTAAGTTATTTACCAAAACAAGTTAATGATAGACCAAGGATTATTACCCTCAGACTGTCTCATTGATCATACTCCTCTCTATCCTAAAGCTACACTTAAAGCTTTCACTCAAAGAAAAAGGAAAAGCAAAAACACCATCATATATGCTCTTTATTAAATGCTTCAGAAACAACGGCTCTGCTTCATCACTACAAAGCCTCCTGGTCCACTTCTGAAATTCTTAGTGACCTAGACGTGTACGAAATTTGAACTTTCCAAGAAGTATCTAGTTGGTGCTGAACAACCCAGTACTATTTTCGGGTGATAAATAACCTTGTTCTCTTTTTAAACATCTGCGATTGACATGTCGACTGACTGTTAACAATGAACAAAGACCATATTTTTCTGAAGCTCATCATCTTCCTAACCTTTTCTTTGAAAACAGATGTAGTTCATGTACTAGTTTTTTGGTGAAGGTAAAAATCTTTATTCAGATTAGGCTCAGAAAAAGAAGGGGCTGCTTTCCGTTCAACAAATATGCACAAGACAGCATCCCACTGGGAGCATCAATCTCAGAAGCAGTAAAACACAGCCTCGGCCCTGAAAGGACTTTCTGAACACCTTTGGAGTGTCATCCGTTTAATATACATTATTTTAATTAATCCTATTAGCTGGATAATTTCTTTCCCATTTTATTGGTGAGTTCATATAGCAGAGCTGGATTTGAATCCAGGATTACAGAGCAGGGCTCCAAAGCCCAAGTTATTTCCACTAAAGGGTCTGAAGAAATGTAGAATCTAAAAGTGTGGGTGGGATGGGGAAGATATGATTTGATTCCCTTTCCTTGGTCCAACCGTGTTAGAAACATCCAACCATAAAGAAGCTTTCTAAGGAAGCCCTTTGAATTAACGTATCCACTTTTTCTCACCCGCCCGTGCCCCACCCCCAGCCATGCCAAAGGAGCAGCAAATGCTGCTGCCAGGTTGGAGGAATTGGTGATCGTCACACCACATTCCTGGGTCTGGACACAGCCTGAAACAGCAGCAGAGCTCCGCGCCTCGGAAAGAATAACAGCAGTTGAGATTTTTAAATCATGTGCCTCAGCATGCAGCCACACCAGTTGCCCTACTTCTCCTGCCTCCACCTTTCAAAGACGCGAGCAGCACACACGGCTCCCCCGGACTTTCGGTGGGGTTGGAGTGTCAAAACTCAGGCGCGCCGCAAAACCCCGTCCCCATCCAAACCAAGCCCACACACCCGGCCCATGTGCCGCCCCCTGGCAAAGGCGAGGCTGGCTGCGACGGTGCAGGCCGTTTGGCTTGGCGGCCCTGCCCCCGCTCTCCACGCCAGAATCTGGCATTCCTTCGCTCAGCCCCTCCGAGGCCCGCCGTCGGCTCTCGCTCGACCCCAAGAAACGCGGAACCTGAAGGGCAAAACTGCCCACCTCCCTGCACCCTGGCACTACGAAAAAGGAGTTTCTGAGACTTGCTGCCGGCCTCCCTCCTGCCGAGGAGGCGTGTAAGGGGTCCCGGGCCGCGGGGAGCAGAGGCGGCGGGGAACCCCGGCGGTTGGCGGGGCACCACGGGAGGGGCCCCCGGCGATGTCCAAACTCTTGGGAACCCAGCGAGTGGCCTCGCTCCGCGCCGGCGGCCGAGCCTGGCCTTCCCACACAGAGAAGGACCGAGGGGGAGAAGGGTCGCCCCAGGTGGCAGCCCCGGGCGCCGCGGACAGCGCCCCTCAGCCCGATACTCACCATGCGCGGGGGCCGCGCAGCACAGCCAGAGCGCCAGCAGCGCCCACAGCAGAGCGGGGCGCAGGGCGGGCATCTTCTCGGTCGCCTCCTCCTCCGCCGCCGCCGCCGCCGCCTGGGCAGATCCACATGGGGAGGGGGTCCCGATAGAGGAGCCCCACTCTCTCCTCCCCTCCTCCTGCTTCAAAGGCTCAGGCCCTGGCGCTACGCTCCGAAGCCCAGGCGCAAATGCCTCGACTCCCCGCGCCCCGAGTCCGCCGCTCCTCGGCCGCCGCCTCAGCCGCCGCCCGAAGTTTGGCTGAAACTTTCTCGGGTGTGCAACGAAGCAGCCTCGTGTGTCCTTCCGCCTCAGCCGCCTCCTCCCACCGCAAGCCCCGCCCCACTGTCGCCGCGGCCTCGGCCCCGCCGCCTTGGGCACCCAGGGGTTTCCCGCAGGAAGAAGCGCCGGCCCGAGCTCCGCGCGGAGGGATCTACTACGAGTCACTGGCCCCGTCCGCATCCTTCTCCAGCGGCCCCGGGGGCCGCCGCGCCTTAACTCGATCAGGGCTGCAGCGGCTCGCTGGCTTGACCAGTGCAGAAGGGGCGTGGGGGTGAGGGGGGTGGGGTAGGACTCTGAACTTCAAGCACTGGAGTTTGCCGGGATCGTGAACTTGCAGGGAGAGGCGGTCCTCATCCAGTGAGGTCTGTATCGCCACCTACACCCACACATCCACACACTGCTTTGCTAGCTAGAGGAATGCTCTGGAGTAGGACCAGTGCTGTCAAAGAAGGAAAGTGGGCCAAGGCGCCAAAGTCCATTAAAAAGGAATAGAGCCATCACGGAGTGGTGCTGCCCCATTCATTCATTCATTTGTTCATCCGTGTAGCGAATATTTCTTAAGTGCCTTACTTTGCGTAGCTGTGTGCTTGGCAGTGGGATGATACCAAAGATGCACAAGCAACTTTGAGTACCAAGACTTTGCCGCTGTGGGCTGGGGGATTCAGGGAAGGCTTTCCCAGAGGAGCTGGGATGAAAGCAGGATCTTGAAAGGTCAGTAAAATTTGTATAAGACAAGGAGACCAGCTAAGCTAAGGATATTCGTTGTAACACTGTAATAGCAAAACCTTGAAAACAACATAAATGCCCACCCTTAGAGGAATGGATGAATAATGTATGGTATATTTATAAAATGAAATGCAACACAGTAATTGAAAAGACTATAGCTATTTATGTCAATAGGGATAAATCTTAAAAACTAAATGATAGTGAAAAAACTAATCACAGAGGGAGACAAAGTATACCATTTATGTATATTTTTTTCAAGACAATACTACACATTATCTGTGGATGCATATATATAGATATAGATATTAAGAGACTATAACCAGAATAGTAGTTACTTCCAGGGCAGGAGAGTAGGGGGTGTGATCAAACCTGGGTACAAGTGGGCTTCTAAGAAAAGAGCTAAAAGTAAGAACAGCAACAATAGTTGTATGGACATATCATTCCAGGAAAGAGCCCTCGTGAAAGCAAAGGTACAGTCAAAAGAGTAAGTAAATGAGTTCTGTCTCTGTTAGCAGTGAGAGGAGTCAAGGACGGAAAGGGGGTTGGGACCAAATTATGCAGCCTTGAATGGCAAGCTGAAAGGGTGGGGAGGCAGCTACCTCTTAGGTCACATAAAACTATTGAAAGTTTTTGAACAGAGTTGAGATTGATGGAAAGGAAGATTGCTCTGATAATTCTGTAGAAAATTGATTGTTGGGGGAGCAAGAGGTGAACTGGAGCCCCAGGACCAGTCAAGAGTTGGTGAACAGTCCAGGCACAAATTTAAGAAGACCTGAACTAATAAGGTAGATTTCAGAAGGAATGAATCCGAGACAATGTTAAAGAAACAGAAAAAAAAAATGGAGGTGTGACTAATTGGATGTGGGAGTTTACAATCCTGTTGGGATGGGAAATCCTACCCATAGAACCTCTCCCTGACTCCTATAGGATAAAATTCAAACTTCTAAACATGGTACATACAAGGCCTTTTCGTCATTGGGCCCCATCTCCTGTCCTCCCTGCCCCTGTTGTGAACTTCACACAATAACAGTATTGACTAACTTGAGATTCCCCCAAACAT	ACACTCAACTTGACTACCTAAAAGCTAGCTAATAATCGCAGCACCTCAGCAGAGCAGAGGTGGAGGGCATAGTTTTATGCACTGAGATCCTATAATAAAAGAAGCCCTATGTGTCAGAGTAATCCCATTTCTGATATCATATTATTTAATACTTAATTTTTCAAATCACTTTACAATTATATTTATTATTCCCTACAATTCTCTAAAGCAGGTTATTCCTTTAGTCCTGCTTCATAGGTGAGGAGACTACATATCATGAAGATTAAGTTATTTACCAAAACAAGTTAATGATAGACCAAGGATTATTACCCTCAGACTGTCTCATTGATCATACTCCTCTCTATCCTAAAGCTACACTTAAAGCTTTCACTCAAAGAAAAAGGAAAAGCAAAAACACCATCATATATGCTCTTTATTAAATGCTTCAGAAACAACGGCTCTGCTTCATCACTACAAAGCCTCCTGGTCCACTTCTGAAATTCTTAGTGACCTAGACGTGTACGAAATTTGAACTTTCCAAGAAGTATCTAGTTGGTGCTGAACAACCCAGTACTATTTTCGGGTGATAAATAACCTTGTTCTCTTTTTAAACATCTGCGATTGACATGTCGACTGACTGTTAACAATGAACAAAGACCATATTTTTCTGAAGCTCATCATCTTCCTAACCTTTTCTTTGAAAACAGATGTAGTTCATGTACTAGTTTTTTGGTGAAGGTAAAAATCTTTATTCAGATTAGGCTCAGAAAAAGAAGGGGCTGCTTTCCGTTCAACAAATATGCACAAGACAGCATCCCACTGGGAGCATCAATCTCAGAAGCAGTAAAACACAGCCTCGGCCCTGAAAGGACTTTCTGAACACCTTTGGAGTGTCATCCGTTTAATATACATTATTTTAATTAATCCTATTAGCTGGATAATTTCTTTCCCATTTTATTGGTGAGTTCATATAGCAGAGCTGGATTTGAATCCAGGATTACAGAGCAGGGCTCCAAAGCCCAAGTTATTTCCACTAAAGGGTCTGAAGAAATGTAGAATCTAAAAGTGTGGGTGGGATGGGGAAGATATGATTTGATTCCCTTTCCTTGGTCCAACCGTGTTAGAAACATCCAACCATAAAGAAGCTTTCTAAGGAAGCCCTTTGAATTAACGTATCCACTTTTTCTCACCCGCCCGTGCCCCACCCCCAGCCATGCCAAAGGAGCAGCAAATGCTGCTGCCAGGTTGGAGGAATTGGTGATCGTCACACCACATTCCTGGGTCTGGACACAGCCTGAAACAGCAGCAGAGCTCCGCGCCTCGGAAAGAATAACAGCAGTTGAGATTTTTAAATCATGTGCCTCAGCATGCAGCCACACCAGTTGCCCTACTTCTCCTGCCTCCACCTTTCAAAGACGCGAGCAGCACACACGGCTCCCCCGGACTTTCGGTGGGGTTGGAGTGTCAAAACTCAGGCGCGCCGCAAAACCCCGTCCCCATCCAAACCAAGCCCACACACCCGGCCCATGTGCCGCCCCCTGGCAAAGGCGAGGCTGGCTGCGACGGTGCAGGCCGTTTGGCTTGGCGGCCCTGCCCCCGCTCTCCACGCCAGAATCTGGCATTCCTTCGCTCAGCCCCTCCGAGGCCCGCCGTCGGCTCTCGCTCGACCCCAAGAAACGCGGAACCTGAAGGGCAAAACTGCCCACCTCCCTGCACCCTGGCACTACGAAAAAGGAGTTTCTGAGACTTGCTGCCGGCCTCCCTCCTGCCGAGGAGGCGTGTAAGGGGTCCCGGGCCGCGGGGAGCAGAGGCGGCGGGGAACCCCGGCGGTTGGCGGGGCACCACGGGAGGGGCCCCCGGCGATGTCCAAACTCTTGGGAACCCAGCGAGTGGCCTCGCTCCGCGCCGGCGGCCGAGCCTGGCCTTCCCACACAGAGAAGGACCGAGGGGGAGAAGGGTCGCCCCAGGTGGCAGCCCCGGGCGCCGCGGACAGCGCCCCTCAGCCCGATACTCACCATGCGCGGGGGCCGCGCAGCACAGCCAGAGCGCCAGCAGCGCCCACAGCAGAGCGGCGCAGGGCGGGCATCTTCTCGGTCGCCTCCTCCTCCGCCGCCGCCGCCGCCGCCTGGGCAGATCCACATGGGGAGGGGGTCCCGATAGAGGAGCCCCACTCTCTCCTCCCCTCCTCCTGCTTCAAAGGCTCAGGCCCTGGCGCTACGCTCCGAAGCCCAGGCGCAAATGCCTCGACTCCCCGCGCCCCGAGTCCGCCGCTCCTCGGCCGCCGCCTCAGCCGCCGCCCGAAGTTTGGCTGAAACTTTCTCGGGTGTGCAACGAAGCAGCCTCGTGTGTCCTTCCGCCTCAGCCGCCTCCTCCCACCGCAAGCCCCGCCCCACTGTCGCCGCGGCCTCGGCCCCGCCGCCTTGGGCACCCAGGGGTTTCCCGCAGGAAGAAGCGCCGGCCCGAGCTCCGCGCGGAGGGATCTACTACGAGTCACTGGCCCCGTCCGCATCCTTCTCCAGCGGCCCCGGGGGCCGCCGCGCCTTAACTCGATCAGGGCTGCAGCGGCTCGCTGGCTTGACCAGTGCAGAAGGGGCGTGGGGGTGAGGGGGGTGGGGTAGGACTCTGAACTTCAAGCACTGGAGTTTGCCGGGATCGTGAACTTGCAGGGAGAGGCGGTCCTCATCCAGTGAGGTCTGTATCGCCACCTACACCCACACATCCACACACTGCTTTGCTAGCTAGAGGAATGCTCTGGAGTAGGACCAGTGCTGTCAAAGAAGGAAAGTGGGCCAAGGCGCCAAAGTCCATTAAAAAGGAATAGAGCCATCACGGAGTGGTGCTGCCCCATTCATTCATTCATTTGTTCATCCGTGTAGCGAATATTTCTTAAGTGCCTTACTTTGCGTAGCTGTGTGCTTGGCAGTGGGATGATACCAAAGATGCACAAGCAACTTTGAGTACCAAGACTTTGCCGCTGTGGGCTGGGGGATTCAGGGAAGGCTTTCCCAGAGGAGCTGGGATGAAAGCAGGATCTTGAAAGGTCAGTAAAATTTGTATAAGACAAGGAGACCAGCTAAGCTAAGGATATTCGTTGTAACACTGTAATAGCAAAACCTTGAAAACAACATAAATGCCCACCCTTAGAGGAATGGATGAATAATGTATGGTATATTTATAAAATGAAATGCAACACAGTAATTGAAAAGACTATAGCTATTTATGTCAATAGGGATAAATCTTAAAAACTAAATGATAGTGAAAAAACTAATCACAGAGGGAGACAAAGTATACCATTTATGTATATTTTTTTCAAGACAATACTACACATTATCTGTGGATGCATATATATAGATATAGATATTAAGAGACTATAACCAGAATAGTAGTTACTTCCAGGGCAGGAGAGTAGGGGGTGTGATCAAACCTGGGTACAAGTGGGCTTCTAAGAAAAGAGCTAAAAGTAAGAACAGCAACAATAGTTGTATGGACATATCATTCCAGGAAAGAGCCCTCGTGAAAGCAAAGGTACAGTCAAAAGAGTAAGTAAATGAGTTCTGTCTCTGTTAGCAGTGAGAGGAGTCAAGGACGGAAAGGGGGTTGGGACCAAATTATGCAGCCTTGAATGGCAAGCTGAAAGGGTGGGGAGGCAGCTACCTCTTAGGTCACATAAAACTATTGAAAGTTTTTGAACAGAGTTGAGATTGATGGAAAGGAAGATTGCTCTGATAATTCTGTAGAAAATTGATTGTTGGGGGAGCAAGAGGTGAACTGGAGCCCCAGGACCAGTCAAGAGTTGGTGAACAGTCCAGGCACAAATTTAAGAAGACCTGAACTAATAAGGTAGATTTCAGAAGGAATGAATCCGAGACAATGTTAAAGAAACAGAAAAAAAAAATGGAGGTGTGACTAATTGGATGTGGGAGTTTACAATCCTGTTGGGATGGGAAATCCTACCCATAGAACCTCTCCCTGACTCCTATAGGATAAAATTCAAACTTCTAAACATGGTACATACAAGGCCTTTTCGTCATTGGGCCCCATCTCCTGTCCTCCCTGCCCCTGTTGTGAACTTCACACAATAACAGTATTGACTAACTTGAGATTCCCCCAAACATNN	benign	14,070
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 146018372, gene HJV (hemojuvelin BMP co-receptor): what disease(s) if pathogenic?	pathogenic; ['Hemochromatosis_type_2A']	TTGATAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTTTAGAATCTTTACCAGCTCCACAACCAGAATCTTTAATGGCTCTCTGCTTCCTTGACAATATAGTATAGTGATTAAAAATTAAGTTTCGGGATCCAAACGGCATAGGTTCAGTTTCTGGCTCTGCCATTTGTTAACTGTGTGACTGGAGGCAAGTTCCATAATTTGTTAGCTGTGTGACTGGAGGCAAGTTTCCTTATATAAAAATAGAGATAAGAATACCACCTTCCTTAGAGAGCTATGAGAATTAAGTCAATGTTTTAAAAGTGTTTAAAACATTGCCTGGCAGATTTTAAGCTTCAATAAGTGTTAGATATTAATCAAATTTAAACCCCTTACCCCCTTTTTAAGGTGCTTCATAATCTGGCCTCTGCCCATCTAACCTTCTGTCCCATTACTCCTTGTCTACTGCATTTGAGTTTTGCTCATTTCCTTGCTGAATCATGAATCCATGCATAACTCCAGATGGTTTTCATTGCCTGGAAGATCGTTAACAATTTGAATCTTACCCAGTCTTCAAAGCTCACTTCAAATCCCATCTTCTCTGTTACCTTTTATTATTCTTATTACTTTAGTTCAAATCTACCATCTTCCCATCTGAATGTACCATACTGTAGGATTTAGTGAATAATTACACACTCATCACTCTTTCATGTGAATTGGTTTTGTCTCTCCAATAGCCTGTAAACTCCCTGAGATAGCAACAGTATCTGATACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAAC	TTGATAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTTTAGAATCTTTACCAGCTCCACAACCAGAATCTTTAATGGCTCTCTGCTTCCTTGACAATATAGTATAGTGATTAAAAATTAAGTTTCGGGATCCAAACGGCATAGGTTCAGTTTCTGGCTCTGCCATTTGTTAACTGTGTGACTGGAGGCAAGTTCCATAATTTGTTAGCTGTGTGACTGGAGGCAAGTTTCCTTATATAAAAATAGAGATAAGAATACCACCTTCCTTAGAGAGCTATGAGAATTAAGTCAATGTTTTAAAAGTGTTTAAAACATTGCCTGGCAGATTTTAAGCTTCAATAAGTGTTAGATATTAATCAAATTTAAACCCCTTACCCCCTTTTTAAGGTGCTTCATAATCTGGCCTCTGCCCATCTAACCTTCTGTCCCATTACTCCTTGTCTACTGCATTTGAGTTTTGCTCATTTCCTTGCTGAATCATGAATCCATGCATAACTCCAGATGGTTTTCATTGCCTGGAAGATCGTTAACAATTTGAATCTTACCCAGTCTTCAAAGCTCACTTCAAATCCCATCTTCTCTGTTACCTTTTATTATTCTTATTACTTTAGTTCAAATCTACCATCTTCCCATCTGAATGTACCATACTGTAGGATTTAGTGAATAATTACACACTCATCACTCTTTCATGTGAATTGGTTTTGTCTCTCCAATAGCCTGTAAACTCCCTGAGATAGCAACAGTATCTGATACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACNN	pathogenic	14,108
Assess the variant on chromosome 1, position 146018397, impacting HJV (hemojuvelin BMP co-receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['Hemochromatosis_type_2A']	GCTGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTTTAGAATCTTTACCAGCTCCACAACCAGAATCTTTAATGGCTCTCTGCTTCCTTGACAATATAGTATAGTGATTAAAAATTAAGTTTCGGGATCCAAACGGCATAGGTTCAGTTTCTGGCTCTGCCATTTGTTAACTGTGTGACTGGAGGCAAGTTCCATAATTTGTTAGCTGTGTGACTGGAGGCAAGTTTCCTTATATAAAAATAGAGATAAGAATACCACCTTCCTTAGAGAGCTATGAGAATTAAGTCAATGTTTTAAAAGTGTTTAAAACATTGCCTGGCAGATTTTAAGCTTCAATAAGTGTTAGATATTAATCAAATTTAAACCCCTTACCCCCTTTTTAAGGTGCTTCATAATCTGGCCTCTGCCCATCTAACCTTCTGTCCCATTACTCCTTGTCTACTGCATTTGAGTTTTGCTCATTTCCTTGCTGAATCATGAATCCATGCATAACTCCAGATGGTTTTCATTGCCTGGAAGATCGTTAACAATTTGAATCTTACCCAGTCTTCAAAGCTCACTTCAAATCCCATCTTCTCTGTTACCTTTTATTATTCTTATTACTTTAGTTCAAATCTACCATCTTCCCATCTGAATGTACCATACTGTAGGATTTAGTGAATAATTACACACTCATCACTCTTTCATGTGAATTGGTTTTGTCTCTCCAATAGCCTGTAAACTCCCTGAGATAGCAACAGTATCTGATACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAG	GCTGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTTTAGAATCTTTACCAGCTCCACAACCAGAATCTTTAATGGCTCTCTGCTTCCTTGACAATATAGTATAGTGATTAAAAATTAAGTTTCGGGATCCAAACGGCATAGGTTCAGTTTCTGGCTCTGCCATTTGTTAACTGTGTGACTGGAGGCAAGTTCCATAATTTGTTAGCTGTGTGACTGGAGGCAAGTTTCCTTATATAAAAATAGAGATAAGAATACCACCTTCCTTAGAGAGCTATGAGAATTAAGTCAATGTTTTAAAAGTGTTTAAAACATTGCCTGGCAGATTTTAAGCTTCAATAAGTGTTAGATATTAATCAAATTTAAACCCCTTACCCCCTTTTTAAGGTGCTTCATAATCTGGCCTCTGCCCATCTAACCTTCTGTCCCATTACTCCTTGTCTACTGCATTTGAGTTTTGCTCATTTCCTTGCTGAATCATGAATCCATGCATAACTCCAGATGGTTTTCATTGCCTGGAAGATCGTTAACAATTTGAATCTTACCCAGTCTTCAAAGCTCACTTCAAATCCCATCTTCTCTGTTACCTTTTATTATTCTTATTACTTTAGTTCAAATCTACCATCTTCCCATCTGAATGTACCATACTGTAGGATTTAGTGAATAATTACACACTCATCACTCTTTCATGTGAATTGGTTTTGTCTCTCCAATAGCCTGTAAACTCCCTGAGATAGCAACAGTATCTGATACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGA	pathogenic	14,110
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 146019386, gene HJV (hemojuvelin BMP co-receptor): what disease(s) if pathogenic?	pathogenic; ['Hemochromatosis_type_2A']	TCCAATAGCCTGTAAACTCCCTGAGATAGCAACAGTATCTGATACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAAT	TCCAATAGCCTGTAAACTCCCTGAGATAGCAACAGTATCTGATACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATN	pathogenic	14,116
Evaluate this variant at chromosome 1, position 146019428, gene HJV (hemojuvelin BMP co-receptor): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Hemochromatosis_type_2A']	TACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGA	TACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGANNNNNNNNNNNNN	pathogenic	14,117
The chromosome 1, position 146019432 genetic variant in gene HJV (hemojuvelin BMP co-receptor): benign or pathogenic? If pathogenic, indicate disease(s).	pathogenic; ['Hemochromatosis_type_2A']	TCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGA	TCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGAN	pathogenic	14,118
Is the variant located on chromosome 1 at position 146019611, gene HJV (hemojuvelin BMP co-receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked.	pathogenic; ['Hemochromatosis_type_2A']	TCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGATCCCAGCATTTGGACGAGAGACATCCAAGTAGGTGTTTGTAATTTTATAAAAGTCTAACTTCAATATAAAAGCTTATTAAAGGAATTGCAATTTCATTTTGACTTACTGTTTCCAGAGGTCAAACATTACTCTGCTATCCAATTCTCCAGCCATGATTCCCTACTCTGTGGGTCAGCTC	TCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGATCCCAGCATTTGGACGAGAGACATCCAAGTAGGTGTTTGTAATTTTATAAAAGTCTAACTTCAATATAAAAGCTTATTAAAGGAATTGCAATTTCATTTTGACTTACTGTTTCCAGAGGTCAAACATTACTCTGCTATCCAATTCTCCAGCCATGATTCCCTACTCTGTGGGTCAGCTCN	pathogenic	14,120
Does the variant on chromosome 1 at location 146019625 affecting gene HJV (hemojuvelin BMP co-receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	benign	AGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGATCCCAGCATTTGGACGAGAGACATCCAAGTAGGTGTTTGTAATTTTATAAAAGTCTAACTTCAATATAAAAGCTTATTAAAGGAATTGCAATTTCATTTTGACTTACTGTTTCCAGAGGTCAAACATTACTCTGCTATCCAATTCTCCAGCCATGATTCCCTACTCTGTGGGTCAGCTCCAGCCAGGGGGTCC	AGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGATCCCAGCATTTGGACGAGAGACATCCAAGTAGGTGTTTGTAATTTTATAAAAGTCTAACTTCAATATAAAAGCTTATTAAAGGAATTGCAATTTCATTTTGACTTACTGTTTCCAGAGGTCAAACATTACTCTGCTATCCAATTCTCCAGCCATGATTCCCTACTCTGTGGGTCAGCTCCAGCCAGGGGG	benign	14,121
Variant at chromosome 1, position 146020172, gene HJV (hemojuvelin BMP co-receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Hemochromatosis_type_2A']	CTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGATCCCAGCATTTGGACGAGAGACATCCAAGTAGGTGTTTGTAATTTTATAAAAGTCTAACTTCAATATAAAAGCTTATTAAAGGAATTGCAATTTCATTTTGACTTACTGTTTCCAGAGGTCAAACATTACTCTGCTATCCAATTCTCCAGCCATGATTCCCTACTCTGTGGGTCAGCTCCAGCCAGGGGGTCCTCCGTGTCTCCCCCAGGTCCCCAGGCCGGCTGCTGTCTCACTGAGGTCAGGGAACCAGAGAAGGTTTGGTATGGGGGGAAGGGGGAGTATATGGCTGGCCAGAGTACTGGACAGCTGAGCAGGGAGGGAGGTGGCTACTGAGTTGACGGTTTTAAAAATAGCTAAGTCCAAAATTCCAGGAACGTTGGTGGGGGTAGGGTGTGGGAGTTGGGGGAGTGGGGAGGGTTAGAGGATTAGAAAGAATATGGAGTATTGAGTGCCAAGTCAGGGAGGGAGGAGAGAAATATGACAGACAAGTTGGATATCCAATTCCAGCTTGTGTGACTCTGTGGTCACTGCCTACTCCAGGCAGCCCTCCAGCATTTTCAATAATGTTGAGCTCCTGGCCTTTAAAAATTACAGTGGGCAATTGGATACCTTTCATTTACCATGTTCATCCCTGCTATGCTGAATATTACATTTAGGTTCTACAGATAGTATCTAGGAGGTAGCTGACTTTGAATAAGATCCATAGCAGAGGTAGTTCATAGCCCCTCTCCTATCTTTG	CTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGATCCCAGCATTTGGACGAGAGACATCCAAGTAGGTGTTTGTAATTTTATAAAAGTCTAACTTCAATATAAAAGCTTATTAAAGGAATTGCAATTTCATTTTGACTTACTGTTTCCAGAGGTCAAACATTACTCTGCTATCCAATTCTCCAGCCATGATTCCCTACTCTGTGGGTCAGCTCCAGCCAGGGGGTCCTCCGTGTCTCCCCCAGGTCCCCAGGCCGGCTGCTGTCTCACTGAGGTCAGGGAACCAGAGAAGGTTTGGTATGGGGGGAAGGGGGAGTATATGGCTGGCCAGAGTACTGGACAGCTGAGCAGGGAGGGAGGTGGCTACTGAGTTGACGGTTTTAAAAATAGCTAAGTCCAAAATTCCAGGAACGTTGGTGGGGGTAGGGTGTGGGAGTTGGGGGAGTGGGGAGGGTTAGAGGATTAGAAAGAATATGGAGTATTGAGTGCCAAGTCAGGGAGGGAGGAGAGAAATATGACAGACAAGTTGGATATCCAATTCCAGCTTGTGTGACTCTGTGGTCACTGCCTACTCCAGGCAGCCCTCCAGCATTTTCAATAATGTTGAGCTCCTGGCCTTTAAAAATTACAGTGGGCAATTGGATACCTTTCATTTACCATGTTCATCCCTGCTATGCTGAATATTACATTTAGGTTCTACAGATAGTATCTAGGAGGTAGCTGACTTTGAATAAGATCCATAGCAGAGGTAGTTCATAGCCCCTCTCCTATCTTT	pathogenic	14,125
For chromosome 1, position 147909270, gene GJA8 (gap junction protein alpha 8): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?	benign	ACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAAGCAAAGAAGATCCTTTCTTTATTCCCCTCTTGCAGCATCAGTGCTCAGCCTAAAATCTATACCTTTTTTCACTAGTGACTAGAAGCAAGCCCAGTTTCGAGCTGGAGGACATCTGCTCACAGGCATGTCCTGGGAAGAGGCAGCTCTCAGACATGATCAAAGGGCCATCAGGGTGGCACCAGAGGGAGCCTCTCACAAAGTGGGTGCTCACACAGCCAGGATCCCAAAGTGGAGTCTCAGGCCAAGCTTCATCCCTGGAAAGGACACAGAGGCTAAAGGGAACAAGAAGAATCTTGAAGGGCTCCTGTCCTCATATTCCCACAACTCACCCTCCTCAAACACAGAGTCTGTTCAGGGGAAATCCTCATGTACACGTACATATTTCATACCAGGAGCAATTTTACCCTCAGCCAATTGATTTCCAGAGCAAGGAGAGAAAACTAAGATGGTTCACCTAAAGCAACACTATGCTTCATGGACTGCAGTGCCAAAGATAGGGTAGGAGGTATAGAAACCAAGTTGACATAGCAGGGACCTGGACAGGAGACCAGCAAGGGGCCCAAAAGGGATACTTAGAAAAACTGCGTTTGTTGTATCTTCCCAACCCCGATCAGCATCATCTCAAAGTATATCAATCCCCTTTGCTGCCCTCTGGTTACCACCTTCCTTTTAAGATATTCATTCAAGATATACCTTTCCAAAGCAGGCCTTTT	ACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAAGCAAAGAAGATCCTTTCTTTATTCCCCTCTTGCAGCATCAGTGCTCAGCCTAAAATCTATACCTTTTTTCACTAGTGACTAGAAGCAAGCCCAGTTTCGAGCTGGAGGACATCTGCTCACAGGCATGTCCTGGGAAGAGGCAGCTCTCAGACATGATCAAAGGGCCATCAGGGTGGCACCAGAGGGAGCCTCTCACAAAGTGGGTGCTCACACAGCCAGGATCCCAAAGTGGAGTCTCAGGCCAAGCTTCATCCCTGGAAAGGACACAGAGGCTAAAGGGAACAAGAAGAATCTTGAAGGGCTCCTGTCCTCATATTCCCACAACTCACCCTCCTCAAACACAGAGTCTGTTCAGGGGAAATCCTCATGTACACGTACATATTTCATACCAGGAGCAATTTTACCCTCAGCCAATTGATTTCCAGAGCAAGGAGAGAAAACTAAGATGGTTCACCTAAAGCAACACTATGCTTCATGGACTGCAGTGCCAAAGATAGGGTAGGAGGTATAGAAACCAAGTTGACATAGCAGGGACCTGGACAGGAGACCAGCAAGGGGCCCAAAAGGGATACTTAGAAAAACTGCGTTTGTTGTATCTTCCCAACCCCGATCAGCATCATCTCAAAGTATATCAATCCCCTTTGCTGCCCTCTGGTTACCACCTTCCTTTTAAGATATTCATTCAAGATATACCTTTCCAAAGCAGGCCTTT	benign	14,194
Gene SF3B4 (splicing factor 3b subunit 4) variant at chromosome 1, position 149923567—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic; ['Nager_syndrome']	ACCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACTGTGCCTGGCCGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGGGAGAAAAAGGCCATTGGATTTGGTCTACTGAAAAGTCTTTAAACTGAGATTTACACGTGATGAAAATCAAGTTTGGAAGGACTGAGAAATGAGAAAAAAAATTGAAATACAAACTCCTTATCTGAGATGACTGTTTACAGACATCTGTAGGAACAGAACAAAATGGAACACGTATGGAACATTTACTGTCTCCATTTACTCATTTTGTTTTGTAATTATGTAAGACATCTATATTGTTCCAAATGAAAAACACATTAACACAGTATACTCAGAGAATCCAGCTTCCCTCAATATCCACTCCCTCCCCAGTGTTATCAATTTCCATTAGTATTTGGTTTATCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGTTTACCCATTTTTAAAAACGTTAATACATATATATATATATATGCTACCCTTAGAGAAGGTAGCACACTACACACATTATTTTCTTCACTTGGAGATCTCTCCACAGCAGTACGTAGAGATCTTCACTTGGAGATCCTTTTTAAAGCTTTTTTTACATTCCTTTTTACAGCTGCACAGTACTCTGCTGCATGAATTTATCAGTTTATTCAACCGTCCCTTTACTGATGGAGATGTGAGTTTCCAATCTACTGCCATTATAACAGTGCTGCAATGAATTGCATAGTGCATGTTACTTCATTTTTGCCAGACTATCTCCAGATACATCTGTTCACTTTAAAACAATAGTCCGGCTGGGTGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGGGTGATCGCTTGAGCCCAGGAGTTCAAAACCAGTCTGGGCAATATGCCGAAATCTCACCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTGGTCCCAGCTACTTGGGAGGCTGTGGTGGGAGAATCACCTGAGCCTGGGAGGTTGGGGCTGCAGTGAGCCATGATCGTGCCACTGCACCCCAGCCTAGGCAACAGAGCAAGACCGTGTCTCCAAATAAAAAAAAGAAACAAAAAAAATGACGATCCTATGCTATATATATTGGGTCCCTATCTTCCAAACTAGAAGATAAGCTCTACGTAAGGAAACAATTACTCTAGTGCACAGCAAAGCTCAGCAACTGCAACAGCACATTACAGAATAAGCCTTTAAAATGTGGAGTAAGCACCCTTGCTCCTACTCCTACCTTACCATTCTTTTCATGATACTGACATCTCTTCTTAAAAGAAAAAGAGAAAAGTTACTGTTGTCAAGGAAAACACCACAAATAAACAAGGAGTTTAGTTTTATTTTCTCTGTGCATTTGCAAAATACTCAGGACCAACATAAAAAAGAAATACCTCCTGTGGAAAAAGTTACATTAAAAAGGGGAATGGAGTGGGGGTGCTGAAAGGGATTAGTACCTTTGCCCCAAGGAGCTACAGCATCTCTGATTGGTCCAAGGAATAGAAAAGATATTGGGAAAATGTAACAGGAGGAAGGAAAATGTGAATTTACTGAGGGAGAGGGCCTCGAAGTGGGCCTCGAGGGGGAACTGGTGGCCGGGGAGTGGGTCTGGGTGGAGGGAGAGGCCCCCGCTGGTAGCCATAGGGTGGGGGTCGTGGAGGGCCAGTGTATCCATGGGGGGGCATCAGTGGAGGAGGTCCACGCATACCATGCGGAGGCATAGGACCTGGGTGACCTGCAAAGAGTAAAAGAAAAGTTAGTAAGGGCACGGGACAAGGGGTGTGCCTACAGGAAGCTGTAAGAACATGATAAGTGCAGATGAGGGAGGTGGCTAGAGCCGACTTACCCATGGGAGATCCGAATGGAGGCCCTCGGGGGGGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGA	ACCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACTGTGCCTGGCCGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGGGAGAAAAAGGCCATTGGATTTGGTCTACTGAAAAGTCTTTAAACTGAGATTTACACGTGATGAAAATCAAGTTTGGAAGGACTGAGAAATGAGAAAAAAAATTGAAATACAAACTCCTTATCTGAGATGACTGTTTACAGACATCTGTAGGAACAGAACAAAATGGAACACGTATGGAACATTTACTGTCTCCATTTACTCATTTTGTTTTGTAATTATGTAAGACATCTATATTGTTCCAAATGAAAAACACATTAACACAGTATACTCAGAGAATCCAGCTTCCCTCAATATCCACTCCCTCCCCAGTGTTATCAATTTCCATTAGTATTTGGTTTATCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGTTTACCCATTTTTAAAAACGTTAATACATATATATATATATATGCTACCCTTAGAGAAGGTAGCACACTACACACATTATTTTCTTCACTTGGAGATCTCTCCACAGCAGTACGTAGAGATCTTCACTTGGAGATCCTTTTTAAAGCTTTTTTTACATTCCTTTTTACAGCTGCACAGTACTCTGCTGCATGAATTTATCAGTTTATTCAACCGTCCCTTTACTGATGGAGATGTGAGTTTCCAATCTACTGCCATTATAACAGTGCTGCAATGAATTGCATAGTGCATGTTACTTCATTTTTGCCAGACTATCTCCAGATACATCTGTTCACTTTAAAACAATAGTCCGGCTGGGTGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGGGTGATCGCTTGAGCCCAGGAGTTCAAAACCAGTCTGGGCAATATGCCGAAATCTCACCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTGGTCCCAGCTACTTGGGAGGCTGTGGTGGGAGAATCACCTGAGCCTGGGAGGTTGGGGCTGCAGTGAGCCATGATCGTGCCACTGCACCCCAGCCTAGGCAACAGAGCAAGACCGTGTCTCCAAATAAAAAAAAGAAACAAAAAAAATGACGATCCTATGCTATATATATTGGGTCCCTATCTTCCAAACTAGAAGATAAGCTCTACGTAAGGAAACAATTACTCTAGTGCACAGCAAAGCTCAGCAACTGCAACAGCACATTACAGAATAAGCCTTTAAAATGTGGAGTAAGCACCCTTGCTCCTACTCCTACCTTACCATTCTTTTCATGATACTGACATCTCTTCTTAAAAGAAAAAGAGAAAAGTTACTGTTGTCAAGGAAAACACCACAAATAAACAAGGAGTTTAGTTTTATTTTCTCTGTGCATTTGCAAAATACTCAGGACCAACATAAAAAAGAAATACCTCCTGTGGAAAAAGTTACATTAAAAAGGGGAATGGAGTGGGGGTGCTGAAAGGGATTAGTACCTTTGCCCCAAGGAGCTACAGCATCTCTGATTGGTCCAAGGAATAGAAAAGATATTGGGAAAATGTAACAGGAGGAAGGAAAATGTGAATTTACTGAGGGAGAGGGCCTCGAAGTGGGCCGGGGAGTGGGTCTGGGTGGAGGGAGAGGCCCCCGCTGGTAGCCATAGGGTGGGGGTCGTGGAGGGCCAGTGTATCCATGGGGGGGCATCAGTGGAGGAGGTCCACGCATACCATGCGGAGGCATAGGACCTGGGTGACCTGCAAAGAGTAAAAGAAAAGTTAGTAAGGGCACGGGACAAGGGGTGTGCCTACAGGAAGCTGTAAGAACATGATAAGTGCAGATGAGGGAGGTGGCTAGAGCCGACTTACCCATGGGAGATCCGAATGGAGGCCCTCGGGGGGGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGANNNNNNNNNNNNNNNNNNNN	pathogenic	14,210
Variant at chromosome 1, position 149923657, gene SF3B4 (splicing factor 3b subunit 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Inborn_genetic_diseases']	ACTGTGCCTGGCCGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGGGAGAAAAAGGCCATTGGATTTGGTCTACTGAAAAGTCTTTAAACTGAGATTTACACGTGATGAAAATCAAGTTTGGAAGGACTGAGAAATGAGAAAAAAAATTGAAATACAAACTCCTTATCTGAGATGACTGTTTACAGACATCTGTAGGAACAGAACAAAATGGAACACGTATGGAACATTTACTGTCTCCATTTACTCATTTTGTTTTGTAATTATGTAAGACATCTATATTGTTCCAAATGAAAAACACATTAACACAGTATACTCAGAGAATCCAGCTTCCCTCAATATCCACTCCCTCCCCAGTGTTATCAATTTCCATTAGTATTTGGTTTATCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGTTTACCCATTTTTAAAAACGTTAATACATATATATATATATATGCTACCCTTAGAGAAGGTAGCACACTACACACATTATTTTCTTCACTTGGAGATCTCTCCACAGCAGTACGTAGAGATCTTCACTTGGAGATCCTTTTTAAAGCTTTTTTTACATTCCTTTTTACAGCTGCACAGTACTCTGCTGCATGAATTTATCAGTTTATTCAACCGTCCCTTTACTGATGGAGATGTGAGTTTCCAATCTACTGCCATTATAACAGTGCTGCAATGAATTGCATAGTGCATGTTACTTCATTTTTGCCAGACTATCTCCAGATACATCTGTTCACTTTAAAACAATAGTCCGGCTGGGTGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGGGTGATCGCTTGAGCCCAGGAGTTCAAAACCAGTCTGGGCAATATGCCGAAATCTCACCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTGGTCCCAGCTACTTGGGAGGCTGTGGTGGGAGAATCACCTGAGCCTGGGAGGTTGGGGCTGCAGTGAGCCATGATCGTGCCACTGCACCCCAGCCTAGGCAACAGAGCAAGACCGTGTCTCCAAATAAAAAAAAGAAACAAAAAAAATGACGATCCTATGCTATATATATTGGGTCCCTATCTTCCAAACTAGAAGATAAGCTCTACGTAAGGAAACAATTACTCTAGTGCACAGCAAAGCTCAGCAACTGCAACAGCACATTACAGAATAAGCCTTTAAAATGTGGAGTAAGCACCCTTGCTCCTACTCCTACCTTACCATTCTTTTCATGATACTGACATCTCTTCTTAAAAGAAAAAGAGAAAAGTTACTGTTGTCAAGGAAAACACCACAAATAAACAAGGAGTTTAGTTTTATTTTCTCTGTGCATTTGCAAAATACTCAGGACCAACATAAAAAAGAAATACCTCCTGTGGAAAAAGTTACATTAAAAAGGGGAATGGAGTGGGGGTGCTGAAAGGGATTAGTACCTTTGCCCCAAGGAGCTACAGCATCTCTGATTGGTCCAAGGAATAGAAAAGATATTGGGAAAATGTAACAGGAGGAAGGAAAATGTGAATTTACTGAGGGAGAGGGCCTCGAAGTGGGCCTCGAGGGGGAACTGGTGGCCGGGGAGTGGGTCTGGGTGGAGGGAGAGGCCCCCGCTGGTAGCCATAGGGTGGGGGTCGTGGAGGGCCAGTGTATCCATGGGGGGGCATCAGTGGAGGAGGTCCACGCATACCATGCGGAGGCATAGGACCTGGGTGACCTGCAAAGAGTAAAAGAAAAGTTAGTAAGGGCACGGGACAAGGGGTGTGCCTACAGGAAGCTGTAAGAACATGATAAGTGCAGATGAGGGAGGTGGCTAGAGCCGACTTACCCATGGGAGATCCGAATGGAGGCCCTCGGGGGGGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGAAATAAAAACTGGCAAGTAGAGTCTACTTGTCAGAAAAACTTAAGAAATGGATTCAGGGTGGTAGATGTTAGAGAGCATTTTGTATGTTTT	ACTGTGCCTGGCCGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGGGAGAAAAAGGCCATTGGATTTGGTCTACTGAAAAGTCTTTAAACTGAGATTTACACGTGATGAAAATCAAGTTTGGAAGGACTGAGAAATGAGAAAAAAAATTGAAATACAAACTCCTTATCTGAGATGACTGTTTACAGACATCTGTAGGAACAGAACAAAATGGAACACGTATGGAACATTTACTGTCTCCATTTACTCATTTTGTTTTGTAATTATGTAAGACATCTATATTGTTCCAAATGAAAAACACATTAACACAGTATACTCAGAGAATCCAGCTTCCCTCAATATCCACTCCCTCCCCAGTGTTATCAATTTCCATTAGTATTTGGTTTATCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGTTTACCCATTTTTAAAAACGTTAATACATATATATATATATATGCTACCCTTAGAGAAGGTAGCACACTACACACATTATTTTCTTCACTTGGAGATCTCTCCACAGCAGTACGTAGAGATCTTCACTTGGAGATCCTTTTTAAAGCTTTTTTTACATTCCTTTTTACAGCTGCACAGTACTCTGCTGCATGAATTTATCAGTTTATTCAACCGTCCCTTTACTGATGGAGATGTGAGTTTCCAATCTACTGCCATTATAACAGTGCTGCAATGAATTGCATAGTGCATGTTACTTCATTTTTGCCAGACTATCTCCAGATACATCTGTTCACTTTAAAACAATAGTCCGGCTGGGTGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGGGTGATCGCTTGAGCCCAGGAGTTCAAAACCAGTCTGGGCAATATGCCGAAATCTCACCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTGGTCCCAGCTACTTGGGAGGCTGTGGTGGGAGAATCACCTGAGCCTGGGAGGTTGGGGCTGCAGTGAGCCATGATCGTGCCACTGCACCCCAGCCTAGGCAACAGAGCAAGACCGTGTCTCCAAATAAAAAAAAGAAACAAAAAAAATGACGATCCTATGCTATATATATTGGGTCCCTATCTTCCAAACTAGAAGATAAGCTCTACGTAAGGAAACAATTACTCTAGTGCACAGCAAAGCTCAGCAACTGCAACAGCACATTACAGAATAAGCCTTTAAAATGTGGAGTAAGCACCCTTGCTCCTACTCCTACCTTACCATTCTTTTCATGATACTGACATCTCTTCTTAAAAGAAAAAGAGAAAAGTTACTGTTGTCAAGGAAAACACCACAAATAAACAAGGAGTTTAGTTTTATTTTCTCTGTGCATTTGCAAAATACTCAGGACCAACATAAAAAAGAAATACCTCCTGTGGAAAAAGTTACATTAAAAAGGGGAATGGAGTGGGGGTGCTGAAAGGGATTAGTACCTTTGCCCCAAGGAGCTACAGCATCTCTGATTGGTCCAAGGAATAGAAAAGATATTGGGAAAATGTAACAGGAGGAAGGAAAATGTGAATTTACTGAGGGAGAGGGCCTCGAAGTGGGCCTCGAGGGGGAACTGGTGGCCGGGGAGTGGGTCTGGGTGGAGGGAGAGGCCCCCGCTGGTAGCCATAGGGTGGGGGTCGTGGAGGGCCAGTGTACAGTGTATCCATGGGGGGGCATCAGTGGAGGAGGTCCACGCATACCATGCGGAGGCATAGGACCTGGGTGACCTGCAAAGAGTAAAAGAAAAGTTAGTAAGGGCACGGGACAAGGGGTGTGCCTACAGGAAGCTGTAAGAACATGATAAGTGCAGATGAGGGAGGTGGCTAGAGCCGACTTACCCATGGGAGATCCGAATGGAGGCCCTCGGGGGGGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGAAATAAAAACTGGCAAGTAGAGTCTACTTGTCAGAAAAACTTAAGAAATGGATTCAGGGTGGTAGATGTTAGAGAGCATTTTGT	pathogenic	14,211
Determine whether the variant at chromosome 1, position 149923669, in gene SF3B4 (splicing factor 3b subunit 4) is benign or pathogenic. If pathogenic, identify the relevant disease(s).	pathogenic; ['Inborn_genetic_diseases', 'Nager_syndrome']	CGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGGGAGAAAAAGGCCATTGGATTTGGTCTACTGAAAAGTCTTTAAACTGAGATTTACACGTGATGAAAATCAAGTTTGGAAGGACTGAGAAATGAGAAAAAAAATTGAAATACAAACTCCTTATCTGAGATGACTGTTTACAGACATCTGTAGGAACAGAACAAAATGGAACACGTATGGAACATTTACTGTCTCCATTTACTCATTTTGTTTTGTAATTATGTAAGACATCTATATTGTTCCAAATGAAAAACACATTAACACAGTATACTCAGAGAATCCAGCTTCCCTCAATATCCACTCCCTCCCCAGTGTTATCAATTTCCATTAGTATTTGGTTTATCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGTTTACCCATTTTTAAAAACGTTAATACATATATATATATATATGCTACCCTTAGAGAAGGTAGCACACTACACACATTATTTTCTTCACTTGGAGATCTCTCCACAGCAGTACGTAGAGATCTTCACTTGGAGATCCTTTTTAAAGCTTTTTTTACATTCCTTTTTACAGCTGCACAGTACTCTGCTGCATGAATTTATCAGTTTATTCAACCGTCCCTTTACTGATGGAGATGTGAGTTTCCAATCTACTGCCATTATAACAGTGCTGCAATGAATTGCATAGTGCATGTTACTTCATTTTTGCCAGACTATCTCCAGATACATCTGTTCACTTTAAAACAATAGTCCGGCTGGGTGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGGGTGATCGCTTGAGCCCAGGAGTTCAAAACCAGTCTGGGCAATATGCCGAAATCTCACCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTGGTCCCAGCTACTTGGGAGGCTGTGGTGGGAGAATCACCTGAGCCTGGGAGGTTGGGGCTGCAGTGAGCCATGATCGTGCCACTGCACCCCAGCCTAGGCAACAGAGCAAGACCGTGTCTCCAAATAAAAAAAAGAAACAAAAAAAATGACGATCCTATGCTATATATATTGGGTCCCTATCTTCCAAACTAGAAGATAAGCTCTACGTAAGGAAACAATTACTCTAGTGCACAGCAAAGCTCAGCAACTGCAACAGCACATTACAGAATAAGCCTTTAAAATGTGGAGTAAGCACCCTTGCTCCTACTCCTACCTTACCATTCTTTTCATGATACTGACATCTCTTCTTAAAAGAAAAAGAGAAAAGTTACTGTTGTCAAGGAAAACACCACAAATAAACAAGGAGTTTAGTTTTATTTTCTCTGTGCATTTGCAAAATACTCAGGACCAACATAAAAAAGAAATACCTCCTGTGGAAAAAGTTACATTAAAAAGGGGAATGGAGTGGGGGTGCTGAAAGGGATTAGTACCTTTGCCCCAAGGAGCTACAGCATCTCTGATTGGTCCAAGGAATAGAAAAGATATTGGGAAAATGTAACAGGAGGAAGGAAAATGTGAATTTACTGAGGGAGAGGGCCTCGAAGTGGGCCTCGAGGGGGAACTGGTGGCCGGGGAGTGGGTCTGGGTGGAGGGAGAGGCCCCCGCTGGTAGCCATAGGGTGGGGGTCGTGGAGGGCCAGTGTATCCATGGGGGGGCATCAGTGGAGGAGGTCCACGCATACCATGCGGAGGCATAGGACCTGGGTGACCTGCAAAGAGTAAAAGAAAAGTTAGTAAGGGCACGGGACAAGGGGTGTGCCTACAGGAAGCTGTAAGAACATGATAAGTGCAGATGAGGGAGGTGGCTAGAGCCGACTTACCCATGGGAGATCCGAATGGAGGCCCTCGGGGGGGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGAAATAAAAACTGGCAAGTAGAGTCTACTTGTCAGAAAAACTTAAGAAATGGATTCAGGGTGGTAGATGTTAGAGAGCATTTTGTATGTTTTTATAATAGAATG	CGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGGGAGAAAAAGGCCATTGGATTTGGTCTACTGAAAAGTCTTTAAACTGAGATTTACACGTGATGAAAATCAAGTTTGGAAGGACTGAGAAATGAGAAAAAAAATTGAAATACAAACTCCTTATCTGAGATGACTGTTTACAGACATCTGTAGGAACAGAACAAAATGGAACACGTATGGAACATTTACTGTCTCCATTTACTCATTTTGTTTTGTAATTATGTAAGACATCTATATTGTTCCAAATGAAAAACACATTAACACAGTATACTCAGAGAATCCAGCTTCCCTCAATATCCACTCCCTCCCCAGTGTTATCAATTTCCATTAGTATTTGGTTTATCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGTTTACCCATTTTTAAAAACGTTAATACATATATATATATATATGCTACCCTTAGAGAAGGTAGCACACTACACACATTATTTTCTTCACTTGGAGATCTCTCCACAGCAGTACGTAGAGATCTTCACTTGGAGATCCTTTTTAAAGCTTTTTTTACATTCCTTTTTACAGCTGCACAGTACTCTGCTGCATGAATTTATCAGTTTATTCAACCGTCCCTTTACTGATGGAGATGTGAGTTTCCAATCTACTGCCATTATAACAGTGCTGCAATGAATTGCATAGTGCATGTTACTTCATTTTTGCCAGACTATCTCCAGATACATCTGTTCACTTTAAAACAATAGTCCGGCTGGGTGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGGGTGATCGCTTGAGCCCAGGAGTTCAAAACCAGTCTGGGCAATATGCCGAAATCTCACCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTGGTCCCAGCTACTTGGGAGGCTGTGGTGGGAGAATCACCTGAGCCTGGGAGGTTGGGGCTGCAGTGAGCCATGATCGTGCCACTGCACCCCAGCCTAGGCAACAGAGCAAGACCGTGTCTCCAAATAAAAAAAAGAAACAAAAAAAATGACGATCCTATGCTATATATATTGGGTCCCTATCTTCCAAACTAGAAGATAAGCTCTACGTAAGGAAACAATTACTCTAGTGCACAGCAAAGCTCAGCAACTGCAACAGCACATTACAGAATAAGCCTTTAAAATGTGGAGTAAGCACCCTTGCTCCTACTCCTACCTTACCATTCTTTTCATGATACTGACATCTCTTCTTAAAAGAAAAAGAGAAAAGTTACTGTTGTCAAGGAAAACACCACAAATAAACAAGGAGTTTAGTTTTATTTTCTCTGTGCATTTGCAAAATACTCAGGACCAACATAAAAAAGAAATACCTCCTGTGGAAAAAGTTACATTAAAAAGGGGAATGGAGTGGGGGTGCTGAAAGGGATTAGTACCTTTGCCCCAAGGAGCTACAGCATCTCTGATTGGTCCAAGGAATAGAAAAGATATTGGGAAAATGTAACAGGAGGAAGGAAAATGTGAATTTACTGAGGGAGAGGGCCTCGAAGTGGGCCTCGAGGGGGAACTGGTGGCCGGGGAGTGGGTCTGGGTGGAGGGAGAGGCCCCCGCTGGTAGCCATAGGGTGGGGGTCGTGGAGGGCCAGTGTATCCATGGGGGGCATCAGTGGAGGAGGTCCACGCATACCATGCGGAGGCATAGGACCTGGGTGACCTGCAAAGAGTAAAAGAAAAGTTAGTAAGGGCACGGGACAAGGGGTGTGCCTACAGGAAGCTGTAAGAACATGATAAGTGCAGATGAGGGAGGTGGCTAGAGCCGACTTACCCATGGGAGATCCGAATGGAGGCCCTCGGGGGGGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGAAATAAAAACTGGCAAGTAGAGTCTACTTGTCAGAAAAACTTAAGAAATGGATTCAGGGTGGTAGATGTTAGAGAGCATTTTGTATGTTTTTATAATAGAATGN	pathogenic	14,212
Evaluate if the mutation on chromosome 1 at position 149925921 in SF3B4 (splicing factor 3b subunit 4) is benign or pathogenic. Disease name(s) if pathogenic?	pathogenic; ['Hereditary_hearing_loss_and_deafness']	GGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGAAATAAAAACTGGCAAGTAGAGTCTACTTGTCAGAAAAACTTAAGAAATGGATTCAGGGTGGTAGATGTTAGAGAGCATTTTGTATGTTTTTATAATAGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCAGGAGGAGGCATGCCTATAGAGGAAATGGAAAAAGGAAGAGTTAATGGTAGTGAGGAGAAAATGTCTTTAAAGAGCCTGTCCTGATCTGGCCTCTCCAGGCAGGGTGAGCTCTTTCCCCCTCCTCCCAGTGCTCTAAAATCAAAAGCAATGTTAGAAAAGTCAACCAACTTCACCCTCCTAAAGAAACCCAACAACTTTCTTCTTCACCACTACCATCACCCCTCAGTCCTCTTCCCATCAACTCACTGACTCAATGTCCCCTGTCCCCCTTTCAGACTTGTTTTCTTCTTCCTCCTGACCCTCTCCCCCAACCTTAAGACAAACATATTTTAACCAAAAGCTTTACCTGGTGGAGGAAGCCCAGACCCCAATGATGATACCACAGGATTGGGAGCAGAGGGTGGAGGAGGTGCATCTGCAAACAGCTGATGAGGGCGATCAGCCTGGGAGAGCGGGTTCTGAGCTGCCAGAAGTCGTTCGGCTGCTGAGCCATGGCGCTCACCCTTGGAGTCCTTCTTGAAGGCATAAGATACGGTGATAGGACGGTTACAGAGGTACTGCCCATTCATGGCTTCAATTGCTGCATCCGAAGCATCAAATGAAGCAAAATTAATAAAGGCATAACCTTTGGAGTTGCCTGTGTCAGGGTCCCGCATAATTTTGGGGGTTTGTAAGATGACCCCAAAGGCGCTGAAAGTATCATAAAGCAACTTCTCATCAATCTCAGGGTCCAGGTTCCCAATGAAAATGTTGGCCCCTACATCCAGGTTTTTGTTGTGAGCTGATGCTTTGTTCACCCGTATTGGCTTCCCATAGAGTTTGATCATGTTCATGATCTTAATGGCATAGTCAGCATCTTCCTCACTCAAGAATTCCACAAAGCCATAGCCTGGAAAAGTGGAGAAGAGGAGGTTAACAACGTAAGTAAAGAGACTGAAAATGGGGTAAAATTCATCTACCCTCTAATCACAAAGAACAAGAAAGAAACAACATCACTTTACTTAAGAATGGTTCCAGAAATAAACTGAAGAGAGGCTTAAAAGAAAAAAATCTTTAGGTTGCTCATGTTATTCCAAAACAGTTGTGAATACTGCTGGGACCCTCCGGGAGCAATTCGCCCCTTGTCATGTACTCACCTTGGTGCTGGCCAGTGACTCTATCCTTTGGCATGTGGGTGTTGACTACTGGTCCAGCCTGGAGAAACAGTTCCCACAGCAGCGGTTCACTAACCTTCTCATCCAGGCCCCCCACGTACACAGTGGCATCTTGAAGGGAGGGAGCAAAAAGAGCAAGCGTGAGAGTGTAACGGGAAGGAAGGAAGTGATGGAAACATGAAGATGGAACCCAACCAGGGGAACTGGGGACCGCGGTAGGGGACAGGAGCAAAAAAAAAAGTTTAAACCCTTAAACTTCTCTCTTCCCAGGACTTCGGGAATCCTCTGAAGTCTAATTTAGTATTGTGAGTGGGTTTTTTTGATTTTTTGAGTGAGAAGTCAGCAGGGGACCGGACTTAAGTATCACACCCAGAGGCCTCAGCCAGCACCCGGCCACCCCGCCCCCAACAGGCAGAGGGCCGGTCTCGCGCCCTCTGGGGAAGGGAGGAGTCCAGTCTCCCACCCCTGCAGAGACACTGCTGGCTGTAGTCGGGGCCTCCTAGCCACGCTGAGCCCATTCCAGACTTTCCCCCTCCAGTTACCCTGATTCCGCTCGGAGATCGGCCCGGCAGCCATGGCGAAAGAGATCCCGCCGTCTCCCAGCAGCGGTTCCGCCTTCTGACCTCAGCACGACTTCCACTTCCGGGGCGAAGACGGACGTAGCGGTGGGCGGGGCCGCGGAAGAGGAGGTGCCTGGAAGCGGCTGCAGCCATCTTAGGAGCCTCCGAAACTTAACCTGGGTCGGGCGGTAGAGTCCTCGGCTCGCGTCCTGAGGTGCCGCTGCT	GGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGAAATAAAAACTGGCAAGTAGAGTCTACTTGTCAGAAAAACTTAAGAAATGGATTCAGGGTGGTAGATGTTAGAGAGCATTTTGTATGTTTTTATAATAGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCAGGAGGAGGCATGCCTATAGAGGAAATGGAAAAAGGAAGAGTTAATGGTAGTGAGGAGAAAATGTCTTTAAAGAGCCTGTCCTGATCTGGCCTCTCCAGGCAGGGTGAGCTCTTTCCCCCTCCTCCCAGTGCTCTAAAATCAAAAGCAATGTTAGAAAAGTCAACCAACTTCACCCTCCTAAAGAAACCCAACAACTTTCTTCTTCACCACTACCATCACCCCTCAGTCCTCTTCCCATCAACTCACTGACTCAATGTCCCCTGTCCCCCTTTCAGACTTGTTTTCTTCTTCCTCCTGACCCTCTCCCCCAACCTTAAGACAAACATATTTTAACCAAAAGCTTTACCTGGTGGAGGAAGCCCAGACCCCAATGATGATACCACAGGATTGGGAGCAGAGGGTGGAGGAGGTGCATCTGCAAACAGCTGATGAGGGCGATCAGCCTGGGAGAGCGGGTTCTGAGCTGCCAGAAGTCGTTCGGCTGCTGAGCCATGGCGCTCACCCTTGGAGTCCTTCTTGAAGGCATAAGATACGGTGATAGGACGGTTACAGAGGTACTGCCCATTCATGGCTTCAATTGCTGCATCCGAAGCATCAAATGAAGCAAAATTAATAAAGGCATAACCTTTGGAGTTGCCTGTGTCAGGGTCCCGCATAATTTTGGGGGTTTGTAAGATGACCCCAAAGGCGCTGAAAGTATCATAAAGCAACTTCTCATCAATCTCAGGGTCCAGGTTCCCAATGAAAATGTTGGCCCCTACATCCAGGTTTTTGTTGTGAGCTGATGCTTTGTTCACCCGTATTGGCTTCCCATAGAGTTTGATCATGTTCATGATCTTAATGGCATAGTCAGCATCTTCCTCACTCAAGAATTCCACAAAGCCATAGCCTGGAAAAGTGGAGAAGAGGAGGTTAACAACGTAAGTAAAGAGACTGAAAATGGGGTAAAATTCATCTACCCTCTAATCACAAAGAACAAGAAAGAAACAACATCACTTTACTTAAGAATGGTTCCAGAAATAAACTGAAGAGAGGCTTAAAAGAAAAAAATCTTTAGGTTGCTCATGTTATTCCAAAACAGTTGTGAATACTGCTGGGACCCTCCGGGAGCAATTCGCCCCTTGTCATGTACTCACCTTGGTGCTGGCCAGTGACTCTATCCTTTGGCATGTGGGTGTTGACTACTGGTCCAGCCTGGAGAAACAGTTCCCACAGCAGCGGTTCACTAACCTTCTCATCCAGGCCCCCCACGTACACAGTGGCATCTTGAAGGGAGGGAGCAAAAAGAGCAAGCGTGAGAGTGTAACGGGAAGGAAGGAAGTGATGGAAACATGAAGATGGAACCCAACCAGGGGAACTGGGGACCGCGGTAGGGGACAGGAGCAAAAAAAAAAGTTTAAACCCTTAAACTTCTCTCTTCCCAGGACTTCGGGAATCCTCTGAAGTCTAATTTAGTATTGTGAGTGGGTTTTTTTGATTTTTTGAGTGAGAAGTCAGCAGGGGACCGGACTTAAGTATCACACCCAGAGGCCTCAGCCAGCACCCGGCCACCCCGCCCCCAACAGGCAGAGGGCCGGTCTCGCGCCCTCTGGGGAAGGGAGGAGTCCAGTCTCCCACCCCTGCAGAGACACTGCTGGCTGTAGTCGGGGCCTCCTAGCCACGCTGAGCCCATTCCAGACTTTCCCCCTCCAGTTACCCTGATTCCGCTCGGAGATCGGCCCGGCAGCCATGGCGAAAGAGATCCCGCCGTCTCCCAGCAGCGGTTCCGCCTTCTGACCTCAGCACGACTTCCACTTCCGGGGCGAAGACGGACGTAGCGGTGGGCGGGGCCGCGGAAGAGGAGGTGCCTGGAAGCGGCTGCAGCCATCTTAGGAGCCTCCGAAACTTAACCTGGGTCGGGCGGTAGAGTCCTCGGCTCGCGTCCTGAGGTGCCGCTGCTN	pathogenic	14,218
A mutation at chromosome position 150491380 on chromosome 1 in gene TARS2 (threonyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? If pathogenic, which disease(s) is it linked to?	benign	AAGGATAAATATGTAAATTCAGCCCCCTCAACTCTTGAGCACGTACATTATAAGTCATCTGTAGTGTATATTCAATTCTAACATGGCTTATACAGCTGAGCAAACAACCTGGTCACCTCCCCACCTTGTCTTCTTCATGTCAGCTCAGGTAGCACAGACCTTGCCTATTAGGATCCAGAAAAATAGAGTTCTCCTGCCATCTATGTGTAAATAGTGACCAAATCCAAGAGGAATATATCGCACTAGATTCGTGGGACAGAAAAAAATAGGACTAAAAGACCAAACAGAGACCTAAGTAACCACTGTGTTAAGAAGATAGCTTATTCTGGCCAGGCACAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATAGTAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACTTGTCATCCCAGCTAATTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGTCATTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAGAAAAATTATTCTGAAGCCCTAAAAGCTTACAGGAGCAGCAGAAGACTGACTGGCCTCCAGCTTCTATGCTTTGGAACTGGGAAGAACCAAGGATTGAGGGGTGGGGCTGGAGCTTCTATGCACTGAAAGAAGAAAAAATACTGGCCTTCTTTCTTTTCTATTCAGTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGTTCACTGCAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACACGCCACCATGCCTGGCTAGTTTTGTATGTTTTAGCAGAGACAGGGTTTCACCATGTTGGCCAGACTGGCCTCGAACTCCTGACCTCAGATGATCCGCCTGCCTTGACCTCCTGAAGTGTTGGGGTTACAGGCATGAGCTGCTGTGCCCAGCCTTTTTTTTTAAGCTTGTTACTTTTTAGTGGTCACCCCCAAAATCTAGGATCCCCATTTTGTGGTAGTTATTCCTAGAAGAACCATACCGGCTTTCCTACCAGCTTTTGTGAGGAAGAGCTCAGAGATCTAGGGGTTAAGGGAGAAGTTTATGAACTTGTGAACCCCTTTTTTGTGAACCCAGGTGTTCTGGCACTCCAGCACCCATGTCCTGGGGGCAGCAGCTGAACAATTCCTAGGTGCTGTTCTCTGCAGAGGTCCAAGTACAGAATATGGCTTTTACCATGATTTCTTCCTGGGAAAGGAGAGGTGAGTAATGAAAGGAAGGAGGAGAATGATTCTGGGATGGTTTCTGAGGCTCTTTTCAGGGGCCTTGGGCATGCTCCATTTGGATGAGGAAGCTGGAGGAGAAGGGTTTCTCTAGGTCTCAACTATGACATTAGTATCTCCTTCTGTGCTAGTCCATGTCCCTCTTCTAACTTTGCTTGAAATTTACCTTCTTGGCTGGTGCACATGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCTGGGAGGTTGAGGCTGTGGTGAGCCATGATCTTAACCACTGCACCCAACTTGTGTGACACAGCAAGACACTTTCTCAAAAAAAAAACAAAAAGAAAAAGAAGAAACAACTTACTTTGTTACTTGTTAGCTTTCATAAATTCAAGTTTTACTTAATCGCCCTCATTACTATTGTTCTAACTTTGTCTATCCAGATTTCCTGCATTCAACTTTTAACTTCATGCATAGAGCTTTTTCTCCAGCTGTAATATCTGTTACCTGATATCCTATTTATATTTTCTCTGAGTTTGTCTGTCTTTGCCTATAACTCTAGATTTCTCTTGAAGGACAGGACCTTACCCGCTAGCCAACAGGTGTGTCACCCAGGTGATTGATGCACCTCATAGGATGCAACCCAACCAATTCTCCTCTTTCCAGGACAATCCGGGGCTCAGAGCTGCCTGTTTTGGAGCGGATTTGCCAGGAACTTACAGCTGCTGCTCGACCCTTCCGGAGGCTAGAGGCTTCACGGGATCAGCTTCGCCAGTTGTTCAAGGTGGGGTGGAGGGAAGAGGTGGCTCTTCCAGGACATCTTTGTGGGAATAAACACTTTTCTTCAATCTCCCTTCTACCTTTTTCCAGGATAACCCCTTTAAGCTTCACTTGATTGAGGAGAAAGTGACAGGTCCAACAGCAACAGTATATGGGTAAGAGTTGTCAAGATTAAGGCAAACAGAGAGGTGGGGAAGCATTGAAGAAGGCCAGAAATGCGATAAGGGAAGAAAGATAGAAGGTAATTTGTGTTGCTCCAGAAAAAGAAATGGGAATGGGAATTGATTTTTTTTTTTTCTTTTTTTGAGACGGAGTCTTGGTCTGTCTCCCAGGCTGGAGTGCGGTAGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCAGAGTGGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGTTCTGTCACCCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCACTGCATCTCTGCCTCCCGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCATGCACCACCATGCCTAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATATTGTCCAGGCTGGTCTCGAACTCCTGACCACGTGATCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTATAGACATGAGCCACCGCGCCCTGCCAGGGAATTGATTTTTATCTGCCATTGCCCTCTCTCAGTAGGACAGTTCCTTTCTCTTCACCTCTTCTGTCAGCTAAAGACCATGAGAGGGAGAAAGCTAGAAGCTGAAGATTCTGAAAATCACTAACTGGCCTCTTCTTTCTCCTAGGTGTGGCACATTGGTTGACCTTTGCCAGGGCCCCCACCTTCGGCATACTGGACAGATTGGAGGACTGAAGCTGCTATCGGTCAGTTGTGGGACAGAGTTAGGTTAAGATTCCTATTTTGAGCCGGGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGATGGATCATAAAGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCTAGCTGCTCGGGAGGCTGAGACAGGAGAGTTGCCTGAACCTGGGAGGCGGAGGTTGTAGTGAGCCGAGACTGCACTACTGCACTCCAGCCTGGGCAACAGAGCGAGAGTCCATCTCAAAAAAAAAAAAAAAAAAATTCCTGGTTTCACTGGGATGAGCAGGAGAATCGGAAGGTGATACTTTCTGTCGGCACCCCCCTTTTTTTTTTTTGAGACCAAGTCTCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTTCGCCTCCTGGATTCAAGCAATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATAATAGGTGTGCACCACCATGCCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGGTGATCTCAAGTGATCTTCCCTTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCTGGCCCTGTACTCTCATAAGCTGAGCGGGGAATACAGGAGAAAGAAACTTTGTCCCCACATTCTAAAAACCCGTTTGATGGCACACACTGGACAGCCTGCTAGGGCCCAGAAGCCAATTCAGATGCCCTAATATGATGTCAGTATTAAGGGGGGTGGAGGGGTGGAGCAGGAGGGTGTGAGCAAGCTGGATGGGTCATACAGGGAAGGGTTGTAGAGAGAGGGGGCGTGGTCCAGGAGGAAGATGAACACCATTTGACAGGCAC	AAGGATAAATATGTAAATTCAGCCCCCTCAACTCTTGAGCACGTACATTATAAGTCATCTGTAGTGTATATTCAATTCTAACATGGCTTATACAGCTGAGCAAACAACCTGGTCACCTCCCCACCTTGTCTTCTTCATGTCAGCTCAGGTAGCACAGACCTTGCCTATTAGGATCCAGAAAAATAGAGTTCTCCTGCCATCTATGTGTAAATAGTGACCAAATCCAAGAGGAATATATCGCACTAGATTCGTGGGACAGAAAAAAATAGGACTAAAAGACCAAACAGAGACCTAAGTAACCACTGTGTTAAGAAGATAGCTTATTCTGGCCAGGCACAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATAGTAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACTTGTCATCCCAGCTAATTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGTCATTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAGAAAAATTATTCTGAAGCCCTAAAAGCTTACAGGAGCAGCAGAAGACTGACTGGCCTCCAGCTTCTATGCTTTGGAACTGGGAAGAACCAAGGATTGAGGGGTGGGGCTGGAGCTTCTATGCACTGAAAGAAGAAAAAATACTGGCCTTCTTTCTTTTCTATTCAGTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGTTCACTGCAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACACGCCACCATGCCTGGCTAGTTTTGTATGTTTTAGCAGAGACAGGGTTTCACCATGTTGGCCAGACTGGCCTCGAACTCCTGACCTCAGATGATCCGCCTGCCTTGACCTCCTGAAGTGTTGGGGTTACAGGCATGAGCTGCTGTGCCCAGCCTTTTTTTTTAAGCTTGTTACTTTTTAGTGGTCACCCCCAAAATCTAGGATCCCCATTTTGTGGTAGTTATTCCTAGAAGAACCATACCGGCTTTCCTACCAGCTTTTGTGAGGAAGAGCTCAGAGATCTAGGGGTTAAGGGAGAAGTTTATGAACTTGTGAACCCCTTTTTTGTGAACCCAGGTGTTCTGGCACTCCAGCACCCATGTCCTGGGGGCAGCAGCTGAACAATTCCTAGGTGCTGTTCTCTGCAGAGGTCCAAGTACAGAATATGGCTTTTACCATGATTTCTTCCTGGGAAAGGAGAGGTGAGTAATGAAAGGAAGGAGGAGAATGATTCTGGGATGGTTTCTGAGGCTCTTTTCAGGGGCCTTGGGCATGCTCCATTTGGATGAGGAAGCTGGAGGAGAAGGGTTTCTCTAGGTCTCAACTATGACATTAGTATCTCCTTCTGTGCTAGTCCATGTCCCTCTTCTAACTTTGCTTGAAATTTACCTTCTTGGCTGGTGCACATGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCTGGGAGGTTGAGGCTGTGGTGAGCCATGATCTTAACCACTGCACCCAACTTGTGTGACACAGCAAGACACTTTCTCAAAAAAAAAACAAAAAGAAAAAGAAGAAACAACTTACTTTGTTACTTGTTAGCTTTCATAAATTCAAGTTTTACTTAATCGCCCTCATTACTATTGTTCTAACTTTGTCTATCCAGATTTCCTGCATTCAACTTTTAACTTCATGCATAGAGCTTTTTCTCCAGCTGTAATATCTGTTACCTGATATCCTATTTATATTTTCTCTGAGTTTGTCTGTCTTTGCCTATAACTCTAGATTTCTCTTGAAGGACAGGACCTTACCCGCTAGCCAACAGGTGTGTCACCCAGGTGATTGATGCACCTCATAGGATGCAACCCAACCAATTCTCTTTCCAGGACAATCCGGGGCTCAGAGCTGCCTGTTTTGGAGCGGATTTGCCAGGAACTTACAGCTGCTGCTCGACCCTTCCGGAGGCTAGAGGCTTCACGGGATCAGCTTCGCCAGTTGTTCAAGGTGGGGTGGAGGGAAGAGGTGGCTCTTCCAGGACATCTTTGTGGGAATAAACACTTTTCTTCAATCTCCCTTCTACCTTTTTCCAGGATAACCCCTTTAAGCTTCACTTGATTGAGGAGAAAGTGACAGGTCCAACAGCAACAGTATATGGGTAAGAGTTGTCAAGATTAAGGCAAACAGAGAGGTGGGGAAGCATTGAAGAAGGCCAGAAATGCGATAAGGGAAGAAAGATAGAAGGTAATTTGTGTTGCTCCAGAAAAAGAAATGGGAATGGGAATTGATTTTTTTTTTTTCTTTTTTTGAGACGGAGTCTTGGTCTGTCTCCCAGGCTGGAGTGCGGTAGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCAGAGTGGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGTTCTGTCACCCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCACTGCATCTCTGCCTCCCGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCATGCACCACCATGCCTAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATATTGTCCAGGCTGGTCTCGAACTCCTGACCACGTGATCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTATAGACATGAGCCACCGCGCCCTGCCAGGGAATTGATTTTTATCTGCCATTGCCCTCTCTCAGTAGGACAGTTCCTTTCTCTTCACCTCTTCTGTCAGCTAAAGACCATGAGAGGGAGAAAGCTAGAAGCTGAAGATTCTGAAAATCACTAACTGGCCTCTTCTTTCTCCTAGGTGTGGCACATTGGTTGACCTTTGCCAGGGCCCCCACCTTCGGCATACTGGACAGATTGGAGGACTGAAGCTGCTATCGGTCAGTTGTGGGACAGAGTTAGGTTAAGATTCCTATTTTGAGCCGGGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGATGGATCATAAAGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCTAGCTGCTCGGGAGGCTGAGACAGGAGAGTTGCCTGAACCTGGGAGGCGGAGGTTGTAGTGAGCCGAGACTGCACTACTGCACTCCAGCCTGGGCAACAGAGCGAGAGTCCATCTCAAAAAAAAAAAAAAAAAAATTCCTGGTTTCACTGGGATGAGCAGGAGAATCGGAAGGTGATACTTTCTGTCGGCACCCCCCTTTTTTTTTTTTGAGACCAAGTCTCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTTCGCCTCCTGGATTCAAGCAATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATAATAGGTGTGCACCACCATGCCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGGTGATCTCAAGTGATCTTCCCTTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCTGGCCCTGTACTCTCATAAGCTGAGCGGGGAATACAGGAGAAAGAAACTTTGTCCCCACATTCTAAAAACCCGTTTGATGGCACACACTGGACAGCCTGCTAGGGCCCAGAAGCCAATTCAGATGCCCTAATATGATGTCAGTATTAAGGGGGGTGGAGGGGTGGAGCAGGAGGGTGTGAGCAAGCTGGATGGGTCATACAGGGAAGGGTTGTAGAGAGAGGGGGCGTGGTCCAGGAGGAAGATGAACACCATTTGACAGGCACNNN	benign	14,307
Determine if the mutation at chromosome 1, position 150499372 in gene TARS2 (threonyl-tRNA synthetase 2, mitochondrial) is benign or pathogenic. If pathogenic, what disease(s) is associated?	benign	TAAACATAAATATTGAAAGTGCTGGTGACCTTTAATACTACAATTGTGTGGTCTGCAGTCGGGGAGCATAGAGATGGGACCTGGTATTTAATAGGTTGTGGTTGCAATCAGCATGGCCTGAGGGCCCAGGAAGATCACACAGCTGACACCCTACCTGCTTTCCTTCCAGTTACTCTGACCTTCCATGTCTGTACCCTCCTCTCCAGGCTGAGTATGCCCATCGTGGTTTCTCCGAGGTGAAAACTCCCACACTGTTTTCTACGAAGCTCTGGGAACAGTCAGGGCACTGGGAGCATTATCAGGAAGACATGTTTGCCGTGCAGCCCCCAGGCTCTGACAGGCCTCCCAGCTCCCAGAGTGACGATTCTACCAGGCATATCACAGATACACTCGCCCTCAAGCCTATGAACTGCCCTGCACACTGGTAAGCTGGGAGCTAGGGTTACAATCAGGTTGCTAAATATTAAATAATAGAAAGCACCTTGGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGCTAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGCACCTTGGAAAGAGTATTGGGACACCGATTTGAGCCTACAGTCTTCCCCCTAGCTAACCATGTAAATTTGGGAAACTCATTTTACCTCTTTAGGTCTCAGTCTCCTTAAAGTTGCTATCTAAGGCTCCTCCTTCAGCTCAGTGACCATCACAGAACAGGGAAATGGTAAACGATGTCTGTTATTGTGTTACTGAGAAATCCACTTTTGAACCTCAGGGCTCAGACTGTGATGAGTGGGATTGACAGGACTCAGTGGGAGGATGTGCTGAGGCTGGAGAGGGTTATAGCAGATGGTGCAGAGAAAGTAGGCAAGCAGATTGGGTGGAGGAGCAGTCTTCGGGGGCTAGTCCTCCCTATGGCCCTGACCCCTCTGCACCCCAACCTCAGCCTGATGTTCGCCCACCGGCCCAGATCCTGGCGGGAACTGCCCCTGCGACTAGCTGACTTTGGGGCTCTACACCGGGCCGAAGCCTCTGGTGGTCTGGGGGGACTGACCCGACTGCGGTGCTTCCAGCAGGATGACGCTCACATCTTCTGTACAACAGATCAGGTGGCCTTTCCCTGGCTCCACCAAAGCTTTTCTAAACCACCTTTCTTTCTCCCTATGAACCTGCAAACCCCTGATCTTTATTTGCCCCCTGTATGTACTATAATTCAGCTACATTCTACCCCCAGCTTGCTTCCGCTTCCTCTCTGTTTTTGCCCTTTGTTTTCCTCAAACTGCCAGCATCCCTGATCTCTAGCGGGCTCACAGCTCACTGACCCTTATTTCCTGCCCCTAGCTGGAAGCAGAGATCCAAAGCTGTCTTGATTTCCTCCGTTCCGTCTATGCCGTTCTTGGCTTCTCCTTCCGCCTGGCACTGTCCACCCGGCCATCTGGCTTCCTGGGGGACCCTTGCCTTTGGGACCAGGCCGAACAGGTGAGTAGGAGGTAGAGAAATAGAGGCAGATAAACCACTCTCTGGTGGGAAGGAGTGGAGAATACAGTAATCAAGGTTCTCAGAGGCATCTGGTGAGTGGGTCATTTGTTGGGGACTGACCGGATGTGTTGCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTTTTGCTTTGTTTTAGTAAATATTTAATAGATACAAAGAATTTTTTTTTTTGAGACAGTCTCACTCTGTCACCCAGGCTAAAATGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCAGCTCCCTGGTTCAAGCAATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTACGCCACCACACCCGGCTAATTTTTTTGTATTTTTAATAGAGATGGGGTTTCGCCATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGCAATCCACCCCACTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACAAAGAAATATTTTTAAACTTACGTAGGATATAAAGAAAAACAATATACTTTCTGCCCTCTTGGCATCTGCAATCTAGTGAGGGCTGCTGAAGGTAAATAGGCCATATCAGTGCTGCGAGATCTGTGCTGTGTAGGTACCAAGAGAGCACGTTAGCTGGGGTTAGCATTACTCGGGGAGGTTACAAAAGGTGTCCTGCAGGAATCACTTTCCAATCTGAAAGGTGAGTGTTGGCCAAGTAAAGATGTGTTTCAGGAGGGAACAGTGTAGGCAGAGGCTGGGGATAAGGATGAAAACACATGGCAGACCAATCTGGGCAACACAGGGAGACCCTGTGTCTACCAAAAAAAAAAAAAAAAATTAGCCGGGTGCAGTAGCTTGTGCCTGTGGTCCCAGCTACCCAGCAGGCTGAGATGGGAGGATCACCTGGTCCCAGGAGGTAGAGGCTGCAGTGAGCCGAGATTGCGCCCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCCTGTCTCAAAAAAAAAGAAGCCAAGGGGAAAAAAGGACTGAAAAGTGTCCACTGGATTTAGTAAAAAGGCTGCTGGATTTCAAAGGACCATTTTCAGTAAAGTAGGGCCTGAGGGTGGAGTTAGAAGATGAATAAATGAGGCCTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGACGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGCGAAACCCCATCTCTACTAAAAATATAAAAATTGGCCGGGTGAGGTGTTAGGACACACCTGTAGTCCCAACTACTCAGTAGCCTGAGGCAGGAGAATCGCTGAACCTGGGAAGTTGCAGTGAGCCAAGATCACACCACTGCACCCTAGCCTGGGCAACAGAGCAAGACTCCGTCCCAAAAAGTAAAAATAAAACAGGCTGGGGGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGGGTTTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCCAGCGTGGTGACAGGCACCTGTAAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGGTCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGGCTCCATCTCAGAAAAATAATAATAAAATGAAAAATAAAATAAATGCTATGATGAGAGGAAGTCTATTTGGAGGGAGAAGTTGTTGTAAAGGGAAGTTCCTGGAGAGGTTTAAGGTAGGATTGAGAAGCCTTCATAGAAGGGATCACCATTGCCATTGTATCCAGGGTGGAAGGAAAGGCTGAAGGTAGATGCAAGGAAGTTTGTAGGCATGGTAACAGGAAGTTGAGGCTCTTCCCATCCCATGGTATCAATTATCTGAATTCTTCATGAGGCAGGATCATTTGCTGAAATGAGAGTGGAGAAGAGGAGAGTTGTCAGTGAGGGGGCTGAAGATATGAAGAAAAGGCTGTGTGCAGTGGCCCCCTCTTGTAATCCCAGCACTTAGGGAGGCTGAGCTGAGATGATCACTTGAATCCAGGAGTTTGATACCAGCCTGGGCAACATAGTAACAGGGCATCATAATAAGACCTCGTCTCTACAAAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTGAGACTATGTCTCGCTCTGCTGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCACG	TAAACATAAATATTGAAAGTGCTGGTGACCTTTAATACTACAATTGTGTGGTCTGCAGTCGGGGAGCATAGAGATGGGACCTGGTATTTAATAGGTTGTGGTTGCAATCAGCATGGCCTGAGGGCCCAGGAAGATCACACAGCTGACACCCTACCTGCTTTCCTTCCAGTTACTCTGACCTTCCATGTCTGTACCCTCCTCTCCAGGCTGAGTATGCCCATCGTGGTTTCTCCGAGGTGAAAACTCCCACACTGTTTTCTACGAAGCTCTGGGAACAGTCAGGGCACTGGGAGCATTATCAGGAAGACATGTTTGCCGTGCAGCCCCCAGGCTCTGACAGGCCTCCCAGCTCCCAGAGTGACGATTCTACCAGGCATATCACAGATACACTCGCCCTCAAGCCTATGAACTGCCCTGCACACTGGTAAGCTGGGAGCTAGGGTTACAATCAGGTTGCTAAATATTAAATAATAGAAAGCACCTTGGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGCTAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGCACCTTGGAAAGAGTATTGGGACACCGATTTGAGCCTACAGTCTTCCCCCTAGCTAACCATGTAAATTTGGGAAACTCATTTTACCTCTTTAGGTCTCAGTCTCCTTAAAGTTGCTATCTAAGGCTCCTCCTTCAGCTCAGTGACCATCACAGAACAGGGAAATGGTAAACGATGTCTGTTATTGTGTTACTGAGAAATCCACTTTTGAACCTCAGGGCTCAGACTGTGATGAGTGGGATTGACAGGACTCAGTGGGAGGATGTGCTGAGGCTGGAGAGGGTTATAGCAGATGGTGCAGAGAAAGTAGGCAAGCAGATTGGGTGGAGGAGCAGTCTTCGGGGGCTAGTCCTCCCTATGGCCCTGACCCCTCTGCACCCCAACCTCAGCCTGATGTTCGCCCACCGGCCCAGATCCTGGCGGGAACTGCCCCTGCGACTAGCTGACTTTGGGGCTCTACACCGGGCCGAAGCCTCTGGTGGTCTGGGGGGACTGACCCGACTGCGGTGCTTCCAGCAGGATGACGCTCACATCTTCTGTACAACAGATCAGGTGGCCTTTCCCTGGCTCCACCAAAGCTTTTCTAAACCACCTTTCTTTCTCCCTATGAACCTGCAAACCCCTGATCTTTATTTGCCCCCTGTATGTACTATAATTCAGCTACATTCTACCCCCAGCTTGCTTCCGCTTCCTCTCTGTTTTTGCCCTTTGTTTTCCTCAAACTGCCAGCATCCCTGATCTCTAGCGGGCTCACAGCTCACTGACCCTTATTTCCTGCCCCTAGCTGGAAGCAGAGATCCAAAGCTGTCTTGATTTCCTCCGTTCCGTCTATGCCGTTCTTGGCTTCTCCTTCCGCCTGGCACTGTCCACCCGGCCATCTGGCTTCCTGGGGGACCCTTGCCTTTGGGACCAGGCCGAACAGGTGAGTAGGAGGTAGAGAAATAGAGGCAGATAAACCACTCTCTGGTGGGAAGGAGTGGAGAATACAGTAATCAAGGTTCTCAGAGGCATCTGGTGAGTGGGTCATTTGTTGGGGACTGACCGGATGTGTTGCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTTTTGCTTTGTTTTAGTAAATATTTAATAGATACAAAGAATTTTTTTTTTTTGAGACAGTCTCACTCTGTCACCCAGGCTAAAATGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCAGCTCCCTGGTTCAAGCAATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTACGCCACCACACCCGGCTAATTTTTTTGTATTTTTAATAGAGATGGGGTTTCGCCATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGCAATCCACCCCACTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACAAAGAAATATTTTTAAACTTACGTAGGATATAAAGAAAAACAATATACTTTCTGCCCTCTTGGCATCTGCAATCTAGTGAGGGCTGCTGAAGGTAAATAGGCCATATCAGTGCTGCGAGATCTGTGCTGTGTAGGTACCAAGAGAGCACGTTAGCTGGGGTTAGCATTACTCGGGGAGGTTACAAAAGGTGTCCTGCAGGAATCACTTTCCAATCTGAAAGGTGAGTGTTGGCCAAGTAAAGATGTGTTTCAGGAGGGAACAGTGTAGGCAGAGGCTGGGGATAAGGATGAAAACACATGGCAGACCAATCTGGGCAACACAGGGAGACCCTGTGTCTACCAAAAAAAAAAAAAAAAATTAGCCGGGTGCAGTAGCTTGTGCCTGTGGTCCCAGCTACCCAGCAGGCTGAGATGGGAGGATCACCTGGTCCCAGGAGGTAGAGGCTGCAGTGAGCCGAGATTGCGCCCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCCTGTCTCAAAAAAAAAGAAGCCAAGGGGAAAAAAGGACTGAAAAGTGTCCACTGGATTTAGTAAAAAGGCTGCTGGATTTCAAAGGACCATTTTCAGTAAAGTAGGGCCTGAGGGTGGAGTTAGAAGATGAATAAATGAGGCCTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGACGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGCGAAACCCCATCTCTACTAAAAATATAAAAATTGGCCGGGTGAGGTGTTAGGACACACCTGTAGTCCCAACTACTCAGTAGCCTGAGGCAGGAGAATCGCTGAACCTGGGAAGTTGCAGTGAGCCAAGATCACACCACTGCACCCTAGCCTGGGCAACAGAGCAAGACTCCGTCCCAAAAAGTAAAAATAAAACAGGCTGGGGGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGGGTTTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCCAGCGTGGTGACAGGCACCTGTAAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGGTCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGGCTCCATCTCAGAAAAATAATAATAAAATGAAAAATAAAATAAATGCTATGATGAGAGGAAGTCTATTTGGAGGGAGAAGTTGTTGTAAAGGGAAGTTCCTGGAGAGGTTTAAGGTAGGATTGAGAAGCCTTCATAGAAGGGATCACCATTGCCATTGTATCCAGGGTGGAAGGAAAGGCTGAAGGTAGATGCAAGGAAGTTTGTAGGCATGGTAACAGGAAGTTGAGGCTCTTCCCATCCCATGGTATCAATTATCTGAATTCTTCATGAGGCAGGATCATTTGCTGAAATGAGAGTGGAGAAGAGGAGAGTTGTCAGTGAGGGGGCTGAAGATATGAAGAAAAGGCTGTGTGCAGTGGCCCCCTCTTGTAATCCCAGCACTTAGGGAGGCTGAGCTGAGATGATCACTTGAATCCAGGAGTTTGATACCAGCCTGGGCAACATAGTAACAGGGCATCATAATAAGACCTCGTCTCTACAAAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTGAGACTATGTCTCGCTCTGCTGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCAC	benign	14,331
Regarding the variant at chromosome 1 and position 150553171, affecting gene ADAMTSL4: benign or pathogenic? If pathogenic, what are the associated illness(es)?	pathogenic; ['Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae']	AGTGTTCAAAGCTGAACTTCAGATGGACTTCCCGGCTCTTCAGAATGAGAGGCCTGTGGCTGGGGCATGAGGCAGCCCCGGCTGCACCTCTCCTTCCCGCTTCCCCAGCTGGTAGAGACGCACAGGAAACAAGCCCTCACTGAACCAACTCCAGATGCTGGCACCCAGAGTGGGTGTTACATTGCCGGCTTCTTCTCTAGAGATTAAACCGTCAACCCATTTAGCTTATCCCTTGGCCAAAAAGTGTATGAGATGTGCCTGGATGTTCCCTAAAGAGCTTATCTAAGAAGGGAAGAGAAAGCCGGGAGGCAAGTAGGACAGAGAGATGACTGGGGAAGGTCTTGTGTCTGGAAGACCCAAGGAAGGGGCTTCTGGTGGGTCCTCAGAGAGAGTGTCTGGCGCATCCTCAGTGGAGCCTTCCTCCTCTACTTTCTAGGCACCTCTGGGAGGGCAGGAGTGGGAGCAGATGACAACCATTTTAGAAGGAGCCCTCTGGCTGGGTGCGGTGGCTCACACCTGTCATCCCAGCACTTTGGGAGGCCAAGGCAGGAGAAGCGCTTGAGGCCTGGAGTTCAAGACCAGCCTGTGCAATTTAGCTGGATCCCATCTCCACCAAAAAATACCAAAATTAGCTGGGTGTGGTGGTGCACGCATGTAGTCCCACCTACTCAGGAGGCTGAGGAAGGAGAGCCTGTGAGTTTGAGGCTGCAATGAGCTTTGGTGGCACCACTGCCCTCCAGCCTGGATGACAGAGTGAGATCTCCATCTCAAAAAAAAAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTG	AGTGTTCAAAGCTGAACTTCAGATGGACTTCCCGGCTCTTCAGAATGAGAGGCCTGTGGCTGGGGCATGAGGCAGCCCCGGCTGCACCTCTCCTTCCCGCTTCCCCAGCTGGTAGAGACGCACAGGAAACAAGCCCTCACTGAACCAACTCCAGATGCTGGCACCCAGAGTGGGTGTTACATTGCCGGCTTCTTCTCTAGAGATTAAACCGTCAACCCATTTAGCTTATCCCTTGGCCAAAAAGTGTATGAGATGTGCCTGGATGTTCCCTAAAGAGCTTATCTAAGAAGGGAAGAGAAAGCCGGGAGGCAAGTAGGACAGAGAGATGACTGGGGAAGGTCTTGTGTCTGGAAGACCCAAGGAAGGGGCTTCTGGTGGGTCCTCAGAGAGAGTGTCTGGCGCATCCTCAGTGGAGCCTTCCTCCTCTACTTTCTAGGCACCTCTGGGAGGGCAGGAGTGGGAGCAGATGACAACCATTTTAGAAGGAGCCCTCTGGCTGGGTGCGGTGGCTCACACCTGTCATCCCAGCACTTTGGGAGGCCAAGGCAGGAGAAGCGCTTGAGGCCTGGAGTTCAAGACCAGCCTGTGCAATTTAGCTGGATCCCATCTCCACCAAAAAATACCAAAATTAGCTGGGTGTGGTGGTGCACGCATGTAGTCCCACCTACTCAGGAGGCTGAGGAAGGAGAGCCTGTGAGTTTGAGGCTGCAATGAGCTTTGGTGGCACCACTGCCCTCCAGCCTGGATGACAGAGTGAGATCTCCATCTCAAAAAAAAAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGN	pathogenic	14,382
Is chromosome 1, position 150553749, gene ADAMTSL4 variant benign or pathogenic? If pathogenic, what condition(s) is it related to?	pathogenic; ['Craniosynostosis_with_ectopia_lentis', 'Ectopia_lentis', 'Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae', 'Inborn_genetic_diseases']	CCAGCCTGTGCAATTTAGCTGGATCCCATCTCCACCAAAAAATACCAAAATTAGCTGGGTGTGGTGGTGCACGCATGTAGTCCCACCTACTCAGGAGGCTGAGGAAGGAGAGCCTGTGAGTTTGAGGCTGCAATGAGCTTTGGTGGCACCACTGCCCTCCAGCCTGGATGACAGAGTGAGATCTCCATCTCAAAAAAAAAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCAC	CCAGCCTGTGCAATTTAGCTGGATCCCATCTCCACCAAAAAATACCAAAATTAGCTGGGTGTGGTGGTGCACGCATGTAGTCCCACCTACTCAGGAGGCTGAGGAAGGAGAGCCTGTGAGTTTGAGGCTGCAATGAGCTTTGGTGGCACCACTGCCCTCCAGCCTGGATGACAGAGTGAGATCTCCATCTCAAAAAAAAAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACNNNNNNNNNNNNNNNNNNNN	pathogenic	14,386
Considering the variant on chromosome 1, location 150553947, involving gene ADAMTSL4, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?	pathogenic; ['ADAMTSL4-related_disorder']	AAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGG	AAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCG	pathogenic	14,392
Is the chromosome 1, position 150553947 variant in ADAMTSL4 clinically benign or pathogenic? If pathogenic, what condition(s) is associated?	pathogenic; ['ADAMTSL4-related_disorder']	AAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGG	AAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGN	pathogenic	14,393
Evaluate the clinical significance of the mutation at chromosome 1, position 150554375 in gene ADAMTSL4: benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['ADAMTSL4-related_disorder', 'Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae']	GGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCC	GGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCN	pathogenic	14,398
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 150557306, gene ADAMTSL4: what disease(s) if pathogenic?	pathogenic; ['Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae']	GATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGG	GATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGNN	pathogenic	14,415
Clinical classification of chromosome 1, position 150558029, gene ADAMTSL4 (ADAMTS like 4): benign or pathogenic? Disease(s) if pathogenic?	pathogenic; ['Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae']	AAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGAC	AAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGA	pathogenic	14,422
A genetic variant on chromosome 1, position 150558029, affects the gene ADAMTSL4 (ADAMTS like 4). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?	pathogenic; ['Craniosynostosis_with_ectopia_lentis', 'Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae']	AAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGAC	AAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGACN	pathogenic	14,423
Variant on chromosome 1, at position 150558947, affecting ADAMTSL4 (ADAMTS like 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s).	benign	TGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGACAGCTCTCCACATTGCCCCCTGGTGGTACAGGCCCGGCTCTGCGTCTACCCCTACTACACAGCCACCTGTTGCCGCTCTTGCGCACATGTCCTGGAGCGGTCTCCCCAGGATCCCTCCTGAAAGGGGTCCGGGGCACCTTCACGGTTTTCTGTGCCACCATCGGTCACCCATTGATCGGCCCACTCTGAACCCCCTGGCTCTCCAGCCTGTCCCAGTCTCAGCAGGGATGTCCTCCAGGTGACAGAGGGTGGCAAGGTGACTGACACAAAGTGACTTTCAGGGCTGTGGTCAGGCCCATGTGGTGGTGTGATGGGTGTGTGCACATATGCCTCAGGTGTGCTTTTGGGACTGCATGGATATGTGTGTGCTCAAACGTGTATCACTTTTCAAAAAGAGGTTACACAGACTGAGAAGGACAAGACCTGTTTCCTTGAGACTTTCCTAGGTGGAAAGGAAAGCAAGTCTGCAGTTCCTTGCTAATCTGAGCTACTTAGAGTGTGGTCTCCCCACCAACTCCAGTTTTGTGCCCTAAGCCTCATTTCTCATGTTCAGACCTCACATCTTCTAAGCCGCCCTGTGTCTCTGACCCCTTCTCATTTGCCTAGTATCTCTGCCCCTGCCTCCCTAATTAGCTAGGGCTGGGGTCAGCCACTGCCAATCCTGCCTTACTCAGGAAGGCAGGAGGAAAGAGACTGCCTCTCCAGAGCAAGGCCCAGCTGGGCAGAGGGTGAAAAAGAGAAATGTGAGCATCCGCTCCCCCACCACCCCGCCCAGCCCCTAGCCCCACTCCCTGCCTCCTGAAATGGTTCCCACCCAGAACTAATTTATTTTTTATTAAAGATGGTCATGACAAATGAGAAATGAGCTCTTCCTTGTCGGCTATGGACCCCTCAGCAGTGTGAAGGCAGAAGGTAGGGT	TGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGACAGCTCTCCACATTGCCCCCTGGTGGTACAGGCCCGGCTCTGCGTCTACCCCTACTACACAGCCACCTGTTGCCGCTCTTGCGCACATGTCCTGGAGCGGTCTCCCCAGGATCCCTCCTGAAAGGGGTCCGGGGCACCTTCACGGTTTTCTGTGCCACCATCGGTCACCCATTGATCGGCCCACTCTGAACCCCCTGGCTCTCCAGCCTGTCCCAGTCTCAGCAGGGATGTCCTCCAGGTGACAGAGGGTGGCAAGGTGACTGACACAAAGTGACTTTCAGGGCTGTGGTCAGGCCCATGTGGTGGTGTGATGGGTGTGTGCACATATGCCTCAGGTGTGCTTTTGGGACTGCATGGATATGTGTGTGCTCAAACGTGTATCACTTTTCAAAAAGAGGTTACACAGACTGAGAAGGACAAGACCTGTTTCCTTGAGACTTTCCTAGGTGGAAAGGAAAGCAAGTCTGCAGTTCCTTGCTAATCTGAGCTACTTAGAGTGTGGTCTCCCCACCAACTCCAGTTTTGTGCCCTAAGCCTCATTTCTCATGTTCAGACCTCACATCTTCTAAGCCGCCCTGTGTCTCTGACCCCTTCTCATTTGCCTAGTATCTCTGCCCCTGCCTCCCTAATTAGCTAGGGCTGGGGTCAGCCACTGCCAATCCTGCCTTACTCAGGAAGGCAGGAGGAAAGAGACTGCCTCTCCAGAGCAAGGCCCAGCTGGGCAGAGGGTGAAAAAGAGAAATGTGAGCATCCGCTCCCCCACCACCCCGCCCAGCCCCTAGCCCCACTCCCTGCCTCCTGAAATGGTTCCCACCCAGAACTAATTTATTTTTTATTAAAGATGGTCATGACAAATGAGAAATGAGCTCTTCCTTGTCGGCTATGGACCCCTCAGCAGTGTGAAGGCAGAAGGTAGGGTNNN	benign	14,439
Variant on chromosome 1, at position 150559397, affecting ADAMTSL4 (ADAMTS like 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae']	GTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGACAGCTCTCCACATTGCCCCCTGGTGGTACAGGCCCGGCTCTGCGTCTACCCCTACTACACAGCCACCTGTTGCCGCTCTTGCGCACATGTCCTGGAGCGGTCTCCCCAGGATCCCTCCTGAAAGGGGTCCGGGGCACCTTCACGGTTTTCTGTGCCACCATCGGTCACCCATTGATCGGCCCACTCTGAACCCCCTGGCTCTCCAGCCTGTCCCAGTCTCAGCAGGGATGTCCTCCAGGTGACAGAGGGTGGCAAGGTGACTGACACAAAGTGACTTTCAGGGCTGTGGTCAGGCCCATGTGGTGGTGTGATGGGTGTGTGCACATATGCCTCAGGTGTGCTTTTGGGACTGCATGGATATGTGTGTGCTCAAACGTGTATCACTTTTCAAAAAGAGGTTACACAGACTGAGAAGGACAAGACCTGTTTCCTTGAGACTTTCCTAGGTGGAAAGGAAAGCAAGTCTGCAGTTCCTTGCTAATCTGAGCTACTTAGAGTGTGGTCTCCCCACCAACTCCAGTTTTGTGCCCTAAGCCTCATTTCTCATGTTCAGACCTCACATCTTCTAAGCCGCCCTGTGTCTCTGACCCCTTCTCATTTGCCTAGTATCTCTGCCCCTGCCTCCCTAATTAGCTAGGGCTGGGGTCAGCCACTGCCAATCCTGCCTTACTCAGGAAGGCAGGAGGAAAGAGACTGCCTCTCCAGAGCAAGGCCCAGCTGGGCAGAGGGTGAAAAAGAGAAATGTGAGCATCCGCTCCCCCACCACCCCGCCCAGCCCCTAGCCCCACTCCCTGCCTCCTGAAATGGTTCCCACCCAGAACTAATTTATTTTTTATTAAAGATGGTCATGACAAATGAGAAATGAGCTCTTCCTTGTCGGCTATGGACCCCTCAGCAGTGTGAAGGCAGAAGGTAGGGTGGGCAGGGGAACAGCATTAGAGCCCAGGAGAGTTTGGGTCAGAGAATCCCCGCCAGCCCCAGGCCCTGCAGGCTGGTCATGGGCCACTAGAGGTCACCAGTTCTCCCATTTGAGGTGTGGGGCGCTGGGTTCCAGAGCTGAAGGAAGGGCTGCGCGGCCGCGGTGCGCTTTTTGGTGGGTCGAGTCTCTCTGGGAAGTCTCCGGGTATCTGCGCCTTTCCGCTGGGGCCTGAGCGAAGGGCAGTTGGCTTGTCGAAGCTCTTTTTTCCTGTTCCCTTTCTCTAGCCCTGCCTTCTGTCTCCCTTTCTGCCGTACGCATATCCCTACGCTCTGGGGCTTCTTCTGGGGTGGGGAAAGGGAAGGGATTCCTGCCCCGAGCCCTTCCCCTGGAGGAGGAGGAGCCCGGCCCGGCTCCAGGGCCCTGGGCGGGGCTGAGGGAGGAGCGGGGCAG	GTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGACAGCTCTCCACATTGCCCCCTGGTGGTACAGGCCCGGCTCTGCGTCTACCCCTACTACACAGCCACCTGTTGCCGCTCTTGCGCACATGTCCTGGAGCGGTCTCCCCAGGATCCCTCCTGAAAGGGGTCCGGGGCACCTTCACGGTTTTCTGTGCCACCATCGGTCACCCATTGATCGGCCCACTCTGAACCCCCTGGCTCTCCAGCCTGTCCCAGTCTCAGCAGGGATGTCCTCCAGGTGACAGAGGGTGGCAAGGTGACTGACACAAAGTGACTTTCAGGGCTGTGGTCAGGCCCATGTGGTGGTGTGATGGGTGTGTGCACATATGCCTCAGGTGTGCTTTTGGGACTGCATGGATATGTGTGTGCTCAAACGTGTATCACTTTTCAAAAAGAGGTTACACAGACTGAGAAGGACAAGACCTGTTTCCTTGAGACTTTCCTAGGTGGAAAGGAAAGCAAGTCTGCAGTTCCTTGCTAATCTGAGCTACTTAGAGTGTGGTCTCCCCACCAACTCCAGTTTTGTGCCCTAAGCCTCATTTCTCATGTTCAGACCTCACATCTTCTAAGCCGCCCTGTGTCTCTGACCCCTTCTCATTTGCCTAGTATCTCTGCCCCTGCCTCCCTAATTAGCTAGGGCTGGGGTCAGCCACTGCCAATCCTGCCTTACTCAGGAAGGCAGGAGGAAAGAGACTGCCTCTCCAGAGCAAGGCCCAGCTGGGCAGAGGGTGAAAAAGAGAAATGTGAGCATCCGCTCCCCCACCACCCCGCCCAGCCCCTAGCCCCACTCCCTGCCTCCTGAAATGGTTCCCACCCAGAACTAATTTATTTTTTATTAAAGATGGTCATGACAAATGAGAAATGAGCTCTTCCTTGTCGGCTATGGACCCCTCAGCAGTGTGAAGGCAGAAGGTAGGGTGGGCAGGGGAACAGCATTAGAGCCCAGGAGAGTTTGGGTCAGAGAATCCCCGCCAGCCCCAGGCCCTGCAGGCTGGTCATGGGCCACTAGAGGTCACCAGTTCTCCCATTTGAGGTGTGGGGCGCTGGGTTCCAGAGCTGAAGGAAGGGCTGCGCGGCCGCGGTGCGCTTTTTGGTGGGTCGAGTCTCTCTGGGAAGTCTCCGGGTATCTGCGCCTTTCCGCTGGGGCCTGAGCGAAGGGCAGTTGGCTTGTCGAAGCTCTTTTTTCCTGTTCCCTTTCTCTAGCCCTGCCTTCTGTCTCCCTTTCTGCCGTACGCATATCCCTACGCTCTGGGGCTTCTTCTGGGGTGGGGAAAGGGAAGGGATTCCTGCCCCGAGCCCTTCCCCTGGAGGAGGAGGAGCCCGGCCCGGCTCCAGGGCCCTGGGCGGGGCTGAGGGAGGAGCGGGGCAGN	pathogenic	14,445
A mutation at chromosome position 150799231 on chromosome 1 in gene CTSK (cathepsin K): benign or pathogenic? If pathogenic, which disease(s) is it linked to?	pathogenic; ['Pyknodysostosis']	CCAGTGGAAGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGGTTCAGATTATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACC	CCAGTGGAAGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGTTCAGATTATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACCN	pathogenic	14,469
Gene CTSK (cathepsin K) variant at chromosome position 150799239 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Pyknodysostosis']	AGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGGTTCAGATTATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACCTGGCTAAT	AGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGGTTCAGATATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACCTGGCTAATN	pathogenic	14,470
Does the variant impacting CTSK (cathepsin K) on chromosome 1, position 150799589, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Pyknodysostosis']	GATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGGTTCAGATTATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTATCCCAGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAACTACTGGGATTATAGGTGTGAGCCACCGTACCTGGCCACATCTCTTCTTTTTTAAATTTTATTTTTTCTTACCTTTCTCCATTCATAAACGAATAAAACACATTACAAAAATTGCAAAGGAAAATTAATCATTTTACTAATTTTACTATATTAAAATTAACTTTTTTTTTTTTTTGAAACGCAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTT	GATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGGTTCAGATTATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTATCCCAGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAACTACTGGGATTATAGGTGTGAGCCACCGTACCTGGCCACATCTCTTCTTTTTTAAATTTTATTTTTTCTTACCTTTCTCCATTCATAAACGAATAAAACACATTACAAAAATTGCAAAGGAAAATTAATCATTTTACTAATTTTACTATATTAAAATTAACTTTTTTTTTTTTTTGAAACGCAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTNN	pathogenic	14,474
Considering the variant on chromosome 1, location 150799648, involving gene CTSK (cathepsin K), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?	pathogenic; ['Pyknodysostosis']	AGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGGTTCAGATTATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTATCCCAGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAACTACTGGGATTATAGGTGTGAGCCACCGTACCTGGCCACATCTCTTCTTTTTTAAATTTTATTTTTTCTTACCTTTCTCCATTCATAAACGAATAAAACACATTACAAAAATTGCAAAGGAAAATTAATCATTTTACTAATTTTACTATATTAAAATTAACTTTTTTTTTTTTTTGAAACGCAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCACCTGCCACCAC	AGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGGTTCAGATTATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATTTCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTATCCCAGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAACTACTGGGATTATAGGTGTGAGCCACCGTACCTGGCCACATCTCTTCTTTTTTAAATTTTATTTTTTCTTACCTTTCTCCATTCATAAACGAATAAAACACATTACAAAAATTGCAAAGGAAAATTAATCATTTTACTAATTTTACTATATTAAAATTAACTTTTTTTTTTTTTTGAAACGCAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCACCTGCCACC	pathogenic	14,476
Clinically, how would you classify the variant at chromosome 1, position 150804212, gene CTSK (cathepsin K): benign or pathogenic? If pathogenic, specify the associated illness(es).	pathogenic; ['Pyknodysostosis']	GCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGT	GCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTN	pathogenic	14,481
Mutation at chromosome 1, position 150805864, within CTSK (cathepsin K): benign or pathogenic? If pathogenic, indicate the disease(s).	pathogenic; ['Pyknodysostosis']	ATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTT	ATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGT	pathogenic	14,486
Assess the variant on chromosome 1, position 150805969, impacting CTSK (cathepsin K): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['Pyknodysostosis']	ATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTA	ATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTANN	pathogenic	14,489
Regarding the variant found on chromosome 1 at position 150806144 in gene CTSK (cathepsin K): is it benign or pathogenic? If pathogenic, identify the disease(s).	pathogenic; ['Pyknodysostosis']	GTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGA	GTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGANNNNNNNNNNN	pathogenic	14,495
Variant in gene CTSK (cathepsin K), located at chromosome 1 position 150806186: benign or pathogenic? What disease(s) does it cause if pathogenic?	pathogenic; ['Pyknodysostosis']	TAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTTG	TAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTT	pathogenic	14,496
The chromosome 1, position 150806722 genetic variant in gene CTSK (cathepsin K): benign or pathogenic? If pathogenic, indicate disease(s).	pathogenic; ['Pyknodysostosis']	TAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTTGTCTGGCTTCGTTTCGGCAGCAAAGTGTGGGCACACCATCAGGGGTGCTAGATTTATTCCATCGGGATTGCGGAAGTCAGCTCCAGTGATCGGCTGGAAAATTTGGGTAAGAGGAGGAGGCGGGGATAGAAATGCTGAGAGAAGGAAGGGTAGGGAGGAGGGAAGGAGGCAGTGGATTTGCAGTGTTTCTGTGTGTATGCAGCATGTGTGCCAGGGTAGGGAATTACTAGCTATTTAGTCTCACAAGACTGTCTTTGGTGGCAAATAACAAGACCTCAATATCTATTGACTCAAATAGGAGCTTACTTTCTCTTTTGGTGAGTAAAAGGAAGGACACAGCCCTAGTCTCTCCCATCCTTCTTCTTCAATATCTTTATTTTAATATTGGGGGATTATATCTTTTCCTACCCCTTTCCTGTTAGGATTTACCTCTCCAACATTGAAACCTATTTTCATATTTGTGTCTGACTCTCACCTCTGGGATGCGGTAATGAACATAAAAGGCTATAAAAGAATAATGTAATGGAAGCCATAGGC	TAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTTGTCTGGCTTCGTTTCGGCAGCAAAGTGTGGGCACACCATCAGGGGTGCTAGATTTATTCCATCGGGATTGCGGAAGTCAGCTCCAGTGATCGGCTGGAAAATTTGGGTAAGAGGAGGAGGCGGGGATAGAAATGCTGAGAGAAGGAAGGGTAGGGAGGAGGGAAGGAGGCAGTGGATTTGCAGTGTTTCTGTGTGTATGCAGCATGTGTGCCAGGGTAGGGAATTACTAGCTATTTAGTCTCACAAGACTGTCTTTGGTGGCAAATAACAAGACCTCAATATCTATTGACTCAAATAGGAGCTTACTTTCTCTTTTGGTGAGTAAAAGGAAGGACACAGCCCTAGTCTCTCCCATCCTTCTTCTTCAATATCTTTATTTTAATATTGGGGGATTATATCTTTTCCTACCCCTTTCCTGTTAGGATTTACCTCTCCAACATTGAAACCTATTTTCATATTTGTGTCTGACTCTCACCTCTGGGATGCGGTAATGAACATAAAAGGCTATAAAAGAATAATGTAATGGAAGCCATAGG	pathogenic	14,501
Benign or pathogenic: chromosome 1, position 150806757, gene CTSK (cathepsin K) variant? Disease(s) if pathogenic?	pathogenic; ['Pyknodysostosis']	TTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTTGTCTGGCTTCGTTTCGGCAGCAAAGTGTGGGCACACCATCAGGGGTGCTAGATTTATTCCATCGGGATTGCGGAAGTCAGCTCCAGTGATCGGCTGGAAAATTTGGGTAAGAGGAGGAGGCGGGGATAGAAATGCTGAGAGAAGGAAGGGTAGGGAGGAGGGAAGGAGGCAGTGGATTTGCAGTGTTTCTGTGTGTATGCAGCATGTGTGCCAGGGTAGGGAATTACTAGCTATTTAGTCTCACAAGACTGTCTTTGGTGGCAAATAACAAGACCTCAATATCTATTGACTCAAATAGGAGCTTACTTTCTCTTTTGGTGAGTAAAAGGAAGGACACAGCCCTAGTCTCTCCCATCCTTCTTCTTCAATATCTTTATTTTAATATTGGGGGATTATATCTTTTCCTACCCCTTTCCTGTTAGGATTTACCTCTCCAACATTGAAACCTATTTTCATATTTGTGTCTGACTCTCACCTCTGGGATGCGGTAATGAACATAAAAGGCTATAAAAGAATAATGTAATGGAAGCCATAGGCTCCAGAATTCTTTGTATTTTTATAAGCTTGTTGGT	TTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTAAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTTGTCTGGCTTCGTTTCGGCAGCAAAGTGTGGGCACACCATCAGGGGTGCTAGATTTATTCCATCGGGATTGCGGAAGTCAGCTCCAGTGATCGGCTGGAAAATTTGGGTAAGAGGAGGAGGCGGGGATAGAAATGCTGAGAGAAGGAAGGGTAGGGAGGAGGGAAGGAGGCAGTGGATTTGCAGTGTTTCTGTGTGTATGCAGCATGTGTGCCAGGGTAGGGAATTACTAGCTATTTAGTCTCACAAGACTGTCTTTGGTGGCAAATAACAAGACCTCAATATCTATTGACTCAAATAGGAGCTTACTTTCTCTTTTGGTGAGTAAAAGGAAGGACACAGCCCTAGTCTCTCCCATCCTTCTTCTTCAATATCTTTATTTTAATATTGGGGGATTATATCTTTTCCTACCCCTTTCCTGTTAGGATTTACCTCTCCAACATTGAAACCTATTTTCATATTTGTGTCTGACTCTCACCTCTGGGATGCGGTAATGAACATAAAAGGCTATAAAAGAATAATGTAATGGAAGCCATAGGCTCCAGAATTCTTTGTATTTTTATAAGCTTGTTGGTN	pathogenic	14,502
Mutation at chromosome 1, position 151346264, within RFX5 (regulatory factor X5): benign or pathogenic? If pathogenic, indicate the disease(s).	pathogenic; ['MHC_class_II_deficiency', 'MHC_class_II_deficiency_3', 'MHC_class_II_deficiency_5']	TCAAGTCCAGGCAGGGGTGGCATAGACACCAAGGTCTTCCTCCTTATGCCACTGTAGCAATATCTGATGCAAGTTAAAGAGCAGCCAACACATGGCGATCTCCAAGCCCCTCGAGCAAGTTAAGCTGTTCCACTCCTTGCTCTCCACATCCTAAGTCTTCCTCCCAGGTCCTCCACCCCCAACCTCTCTAGTCAAGGATACTTGGACTGGCCCCGGCCACCAAGCCTTCGAGCTTTGATGTCAGGGAAGATCTCTCTGATGATCTTGCCAAAGTTGGCTGTGCTGAGTGGGCGGCAACAGGCAAGACTCTCACAGTACTTCCTGAGTGAGAGGGGAGCAGAGTGGGAAGATACTCAGAGAAGGAGGCCATGGGTAGGCTCGAAGAGTCCCTAGGGATCAAGTGTGAGGAACCCTTTAAGAAGGCAGGCTTTATCAAGGCAGGAAGCTCTTCATGGGTGAGGGGGTCCTATGCCCACCAATCCACTCATCCCACCACCCACCCCTCCACCCACCGATAGGCATCATAAACACTTTGCTTTGGCAGACAGGTGTCAGTGTGCTCTTCCAGGTGGTTGCGGATCCACCTATAGGCATACATGTACTCCTCATTGCTCAGTGTACTTGGCTCTGAGCTACAGAAACAAAAGGAACAAGCATTACTAAGACCCTAACAGTTGTCCTGGTTCTTCCCAAACTACCACTTCAGTAGTGCTGGACCAAATTTAGTTCACCCAGAATCTAACTTTCCCTGGTAAACCAAGTCAGGGCGAGGACCTTTCCTCTTCATCAAGGACAGCATTTACGAGTATTCCTATTCACCTCACCCCTTCCCAGTGAACCTTTCTCTAAGAATCAGAACCTCTGCCATCTAAAACTACTATCAAACCTACCTTTTGTCTCCAGTGGTGGGTCCTGAGGGGAGCTGAAGGTAGAGATACAGCTTGTCATTGTCAGAAAATTTCTGTACATCTTGCTGAGGTAGGAGAGAACAGAGGCAGGAGAAATAATAAGGCCAAGAAGGACCCAATATAGGACCCTCTGATCCCCACACCAAAGTCTAGCTGACTTACAGGGTGTCAGACTGAAAAAGGACCTTAGAAATTATTTGACAAGGCCGGGCACGGTGGCTCACGCCTACAATCCCAGCACTTTGGAAGGCCAAGGCAGGCTGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAAAAATTAGCTGGGTGTGGTGACGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAATTATTTGATGCTAGGTGCTCTGAGGAGCCCTATAGGCTACCATGGAGAGGAGGGAAGTAGAGGGGATCAGCTCTGACTTCATCTCTGCTGGGCTTCTATGCAAGTGCTCACAGAGATCAAGTGAGAGGCACAAAGTCAAACTGGCAGCAAGTTTGCAAAGCCAACTATCTTCTGACAAGGCAGAGGACCCTACCTCTCCCACATCAATGTTTTGTTGATGCCCATCATCCTCACATCCTCCTCCCTCAGCATTTCCATCCCTCTCTTGCCCTCTTCCCCAACACACTTACCAGGATCCCCTCTACTTTGTTCTGCACGGCCTTGCTGTGGGGAAGAGGAGAAAGCTGGAGGTCACACACAAGATTTTCCCTGTCTCTTTATCTGACTGCTAGGGAGGGAAAAGGACTGAAATGCCCAGCAGGTGCTCAAGAATTGCTACCATGGCCAAAAATCTCCCTCTGCTCCCATGCCCTTGCTGAGAGGCAGTTCATCTACAGCCAAAGTGAAGTGCTGCAGGGATCTATACTCAGGTCTTGGACAGGACTTGGAGATGTGATGAGTACTTACGAAATGGTACCTCGGAGCCTCTGAAGAAGGGTGGTAGGTTCCCCAGCCTCAGCACCACCTGGGGGGGCCCTTCCCCCAGTCTTGGGGCTCTTAGCATCAGGCTCATCTTCTGCCATCCCGGCATGAGGGCTAGAATTGAGAGGGACAGGCATAAAGATGTAACTCACACTGGCCTTCCCTTCCCCAGAAGGCCCCAGGGCACTCCTCATCTCTTTACCCAGAAAGGCAGAGAAACAGAAACAAAGCCTCCGAATTTCCCCGGTGGTCTTTTTCTCACCACTTGCCTTCTCCGAAAATTAGAAATTATTCCATTACTTCGCCAGGCCCATATATGCCCAAAGAGATCTTTGCCATCTCCATTCTATCTGCCCCACCTTTCTGAAGTCTCCTAAATCTGGAAAACTGTAAAGGAAGAGATAGGGGGATTGGGAATCCATGTTAGCAAGAAATTTTCATTTCTGCCTCTGACCCCATACTGCCCTCCTCCCCCTCAAAAACAACAATAACAGCCACAAAACAAAGTTCTCTAATTCTCAAAAATACTCCTCACCATTGCATATGCCTGGGAGGTCAGAAAGGATACGAACATATTCTGCCCTTCTAGGCTTGGAAAAAAAACTGGGCCCAAGTTCTCATTACTTAATCTCGCCACGACTTCCCCCGCTGCTCCCCCTCCCCACGTCGCCGGCCCCTACGTCATCTCCCACAACAGCCCATCCTGAGGCGCGCCCCCACCTCCTTCCCTTCCCCCTCCATTCAATCCCCGGTTTCTGCAAAGTGGAGCGGGGGTGGGGCGGGGTAGCGGAACTCATGCGCTGGGCGTCAGAAACCCGGCAGGGGAATGGGGTCCCAGATTCCGGGCACGTGCACATGGGTGAAGAAGCTGTTGAAAATACAGCTACAATCTTTTTCTGCTCTCCTCCCAACTCATCTTGCCCCTCCCTACCTCTGAACAGTCGCCTTCCAACACAAGCAACAATAAAGGTAAGGGAGAAAGAGAAACTACCTCGTAGCCACCTTCACTCCAGCCCAGCCCCAAGGTCCTGGCCCAGCCGGCTCGTGCGTTGCTTTATTTTCCTTTTTCTGAATGGTTGTAACAGCCGCGATCTGCCTAGATACACGGGCGGCCTGCTCTGTCATTGGTCACTGCTGCCACCCGGAGACAGAAGGCGCCGGGCTCGTACCGGCGGCCGCTGAAGTCTGCCTGGTAACAGAATCTGATTGGTCAATAGGGGAGGGAAAATCCAAAGTTGGTCTTATTTGAGTCAAGAGGGGGAAGTCCGGGTTGGGTTTCGGTTAAAACTGGGGTCGGTTGGGACTGCAGGTCCCAAGAGGTTCTTCTCTTAAAGGGACCGCAGGATGAAAGAACGGGCGCTCGGCTCCCTTTGGAACTGTCTTTTCTTTTGCCCTCCCCTTTTGTGTTTCAGTTTAGTCTACGGTCCTCAGAGCTGCCGGAAGAGAAGAATCAATGGATGATAAAATAACTAGACAATGATGGGTAGGAGTGATGGAAGTTCACTGTAAGCTCCTATAACCCCCCATCACCATCACCACATGCCTAATACAACCTGCAGACACACTTACTCGCAACAGACCTGCAATCTGGGCTCTCTTTTCCTTCTTGATGGAGGCCTCAAAACCTCAGCAGTTGTACCCATTAAACTAAAATGCTTTTTCCCTCTTAGTATTTCTTGGTTTCCCGTGTGTACTTTACTTCCAAAGAGTTGCAAATGCATTTGCATCCCCATAGTTCTGCAGTCGGTGAACCCTGGAATTTTGATGGACTCCCACGGGGGTGCTGGATGCCACAGGAACTTTTTACACTCAGGGAACATTGTACTGAATAGGTCATGGGTTCTTAACCCTCTTACTTAAGACATTTTAAGGTTATGAATCAGACAAAAGCAATGGACCCTCTACCATGAAAAATGCACACAGAGACCAAGTTTTGCATCTAATTTCAGAGAGGTCATGGACTCCAGGTTGAAAGCCTCTTACATGGATGTATTTTGTTTTGCGCAGCGGTCATGTTACAACCAAAACTGTATTTGCCATCCTGACATCTAATATGTTCTCCAGGCTCATCATTAATGTGCTTTTGTAAAGA	TCAAGTCCAGGCAGGGGTGGCATAGACACCAAGGTCTTCCTCCTTATGCCACTGTAGCAATATCTGATGCAAGTTAAAGAGCAGCCAACACATGGCGATCTCCAAGCCCCTCGAGCAAGTTAAGCTGTTCCACTCCTTGCTCTCCACATCCTAAGTCTTCCTCCCAGGTCCTCCACCCCCAACCTCTCTAGTCAAGGATACTTGGACTGGCCCCGGCCACCAAGCCTTCGAGCTTTGATGTCAGGGAAGATCTCTCTGATGATCTTGCCAAAGTTGGCTGTGCTGAGTGGGCGGCAACAGGCAAGACTCTCACAGTACTTCCTGAGTGAGAGGGGAGCAGAGTGGGAAGATACTCAGAGAAGGAGGCCATGGGTAGGCTCGAAGAGTCCCTAGGGATCAAGTGTGAGGAACCCTTTAAGAAGGCAGGCTTTATCAAGGCAGGAAGCTCTTCATGGGTGAGGGGGTCCTATGCCCACCAATCCACTCATCCCACCACCCACCCCTCCACCCACCGATAGGCATCATAAACACTTTGCTTTGGCAGACAGGTGTCAGTGTGCTCTTCCAGGTGGTTGCGGATCCACCTATAGGCATACATGTACTCCTCATTGCTCAGTGTACTTGGCTCTGAGCTACAGAAACAAAAGGAACAAGCATTACTAAGACCCTAACAGTTGTCCTGGTTCTTCCCAAACTACCACTTCAGTAGTGCTGGACCAAATTTAGTTCACCCAGAATCTAACTTTCCCTGGTAAACCAAGTCAGGGCGAGGACCTTTCCTCTTCATCAAGGACAGCATTTACGAGTATTCCTATTCACCTCACCCCTTCCCAGTGAACCTTTCTCTAAGAATCAGAACCTCTGCCATCTAAAACTACTATCAAACCTACCTTTTGTCTCCAGTGGTGGGTCCTGAGGGGAGCTGAAGGTAGAGATACAGCTTGTCATTGTCAGAAAATTTCTGTACATCTTGCTGAGGTAGGAGAGAACAGAGGCAGGAGAAATAATAAGGCCAAGAAGGACCCAATATAGGACCCTCTGATCCCCACACCAAAGTCTAGCTGACTTACAGGGTGTCAGACTGAAAAAGGACCTTAGAAATTATTTGACAAGGCCGGGCACGGTGGCTCACGCCTACAATCCCAGCACTTTGGAAGGCCAAGGCAGGCTGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAAAAATTAGCTGGGTGTGGTGACGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAATTATTTGATGCTAGGTGCTCTGAGGAGCCCTATAGGCTACCATGGAGAGGAGGGAAGTAGAGGGGATCAGCTCTGACTTCATCTCTGCTGGGCTTCTATGCAAGTGCTCACAGAGATCAAGTGAGAGGCACAAAGTCAAACTGGCAGCAAGTTTGCAAAGCCAACTATCTTCTGACAAGGCAGAGGACCCTACCTCTCCCACATCAATGTTTTGTTGATGCCCATCATCCTCACATCCTCCTCCCTCAGCATTTCCATCCCTCTCTTGCCCTCTTCCCCAACACACTTACCAGGATCCCCTCTACTTTGTTCTGCACGGCCTTGCTGTGGGGAAGAGGAGAAAGCTGGAGGTCACACACAAGATTTTCCCTGTCTCTTTATCTGACTGCTAGGGAGGGAAAAGGACTGAAATGCCCAGCAGGTGCTCAAGAATTGCTACCATGGCCAAAAATCTCCCTCTGCTCCCATGCCCTTGCTGAGAGGCAGTTCATCTACAGCCAAAGTGAAGTGCTGCAGGGATCTATACTCAGGTCTTGGACAGGACTTGGAGATGTGATGAGTACTTACGAAATGGTACCTCGGAGCCTCTGAAGAAGGGTGGTAGGTTCCCCAGCCTCAGCACCACCTGGGGGGGGCCCTTCCCCCAGTCTTGGGGCTCTTAGCATCAGGCTCATCTTCTGCCATCCCGGCATGAGGGCTAGAATTGAGAGGGACAGGCATAAAGATGTAACTCACACTGGCCTTCCCTTCCCCAGAAGGCCCCAGGGCACTCCTCATCTCTTTACCCAGAAAGGCAGAGAAACAGAAACAAAGCCTCCGAATTTCCCCGGTGGTCTTTTTCTCACCACTTGCCTTCTCCGAAAATTAGAAATTATTCCATTACTTCGCCAGGCCCATATATGCCCAAAGAGATCTTTGCCATCTCCATTCTATCTGCCCCACCTTTCTGAAGTCTCCTAAATCTGGAAAACTGTAAAGGAAGAGATAGGGGGATTGGGAATCCATGTTAGCAAGAAATTTTCATTTCTGCCTCTGACCCCATACTGCCCTCCTCCCCCTCAAAAACAACAATAACAGCCACAAAACAAAGTTCTCTAATTCTCAAAAATACTCCTCACCATTGCATATGCCTGGGAGGTCAGAAAGGATACGAACATATTCTGCCCTTCTAGGCTTGGAAAAAAAACTGGGCCCAAGTTCTCATTACTTAATCTCGCCACGACTTCCCCCGCTGCTCCCCCTCCCCACGTCGCCGGCCCCTACGTCATCTCCCACAACAGCCCATCCTGAGGCGCGCCCCCACCTCCTTCCCTTCCCCCTCCATTCAATCCCCGGTTTCTGCAAAGTGGAGCGGGGGTGGGGCGGGGTAGCGGAACTCATGCGCTGGGCGTCAGAAACCCGGCAGGGGAATGGGGTCCCAGATTCCGGGCACGTGCACATGGGTGAAGAAGCTGTTGAAAATACAGCTACAATCTTTTTCTGCTCTCCTCCCAACTCATCTTGCCCCTCCCTACCTCTGAACAGTCGCCTTCCAACACAAGCAACAATAAAGGTAAGGGAGAAAGAGAAACTACCTCGTAGCCACCTTCACTCCAGCCCAGCCCCAAGGTCCTGGCCCAGCCGGCTCGTGCGTTGCTTTATTTTCCTTTTTCTGAATGGTTGTAACAGCCGCGATCTGCCTAGATACACGGGCGGCCTGCTCTGTCATTGGTCACTGCTGCCACCCGGAGACAGAAGGCGCCGGGCTCGTACCGGCGGCCGCTGAAGTCTGCCTGGTAACAGAATCTGATTGGTCAATAGGGGAGGGAAAATCCAAAGTTGGTCTTATTTGAGTCAAGAGGGGGAAGTCCGGGTTGGGTTTCGGTTAAAACTGGGGTCGGTTGGGACTGCAGGTCCCAAGAGGTTCTTCTCTTAAAGGGACCGCAGGATGAAAGAACGGGCGCTCGGCTCCCTTTGGAACTGTCTTTTCTTTTGCCCTCCCCTTTTGTGTTTCAGTTTAGTCTACGGTCCTCAGAGCTGCCGGAAGAGAAGAATCAATGGATGATAAAATAACTAGACAATGATGGGTAGGAGTGATGGAAGTTCACTGTAAGCTCCTATAACCCCCCATCACCATCACCACATGCCTAATACAACCTGCAGACACACTTACTCGCAACAGACCTGCAATCTGGGCTCTCTTTTCCTTCTTGATGGAGGCCTCAAAACCTCAGCAGTTGTACCCATTAAACTAAAATGCTTTTTCCCTCTTAGTATTTCTTGGTTTCCCGTGTGTACTTTACTTCCAAAGAGTTGCAAATGCATTTGCATCCCCATAGTTCTGCAGTCGGTGAACCCTGGAATTTTGATGGACTCCCACGGGGGTGCTGGATGCCACAGGAACTTTTTACACTCAGGGAACATTGTACTGAATAGGTCATGGGTTCTTAACCCTCTTACTTAAGACATTTTAAGGTTATGAATCAGACAAAAGCAATGGACCCTCTACCATGAAAAATGCACACAGAGACCAAGTTTTGCATCTAATTTCAGAGAGGTCATGGACTCCAGGTTGAAAGCCTCTTACATGGATGTATTTTGTTTTGCGCAGCGGTCATGTTACAACCAAAACTGTATTTGCCATCCTGACATCTAATATGTTCTCCAGGCTCATCATTAATGTGCTTTTGTAAAG	pathogenic	14,568
Clinical classification of chromosome 1, position 151405577, gene POGZ (pogo transposable element derived with ZNF domain): benign or pathogenic? Disease(s) if pathogenic?	pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome', 'Neurodevelopmental_disorder', 'POGZ-related_disorder']	TTTTGGTTTACAACCATGAGTACATACAATTAAAAAAATCCCTCATGCAAATTGTAGAAAAAATTTTCTTTCCTTGAAGCTGGCAGTGAAAAATAAAGATTCATGTCATTTTCTTTGTGCACACCCCTGTGCGCTTCTTCCTGTCAGATTCTTCCCTAAGTATTAAGAGAAATAGGGGAAAGCCACAGAGCACGCTGGATTTCAACAAGTGGTCTTGTCTTTTTAAAGTTCAACACTTCTTGAACAATTAGCTCCTGGCTGTAGGACCAGTAATCCCTTAAACAGGCATGCTCTCCATCTAACAGGATGAAGTTCAGTAAAGCAGGGACTGCCCCTGGGGGCTTACAGGATGAAGACTCAAACTGGGAATGGCTTCCACCCTAAAACTGTTTGATCGCTTCAGTATCTCTTGCTTGCTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTC	TTTTGGTTTACAACCATGAGTACATACAATTAAAAAAATCCCTCATGCAAATTGTAGAAAAAATTTTCTTTCCTTGAAGCTGGCAGTGAAAAATAAAGATTCATGTCATTTTCTTTGTGCACACCCCTGTGCGCTTCTTCCTGTCAGATTCTTCCCTAAGTATTAAGAGAAATAGGGGAAAGCCACAGAGCACGCTGGATTTCAACAAGTGGTCTTGTCTTTTTAAAGTTCAACACTTCTTGAACAATTAGCTCCTGGCTGTAGGACCAGTAATCCCTTAAACAGGCATGCTCTCCATCTAACAGGATGAAGTTCAGTAAAGCAGGGACTGCCCCTGGGGGCTTACAGGATGAAGACTCAAACTGGGAATGGCTTCCACCCTAAAACTGTTTGATCGCTTCAGTATCTCTTGCTTGCTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCNN	pathogenic	14,584
Is chromosome 1, position 151405993, gene POGZ (pogo transposable element derived with ZNF domain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?	pathogenic; ['Global_developmental_delay', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome', 'Speech_apraxia']	CTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAA	CTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAN	pathogenic	14,593
The chromosome 1, position 151406185 genetic variant in gene POGZ (pogo transposable element derived with ZNF domain): benign or pathogenic? If pathogenic, indicate disease(s).	pathogenic; ['Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome']	ATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCA	ATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCC	pathogenic	14,600
Chromosome 1, position 151406266, gene POGZ (pogo transposable element derived with ZNF domain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?	pathogenic; ['Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome']	TTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACA	TTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAAC	pathogenic	14,604
A genetic variant on chromosome 1, position 151406387, affects the gene POGZ (pogo transposable element derived with ZNF domain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?	pathogenic; ['Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome']	TCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGAT	TCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATNN	pathogenic	14,606
Determine whether the variant at chromosome 1, position 151406934, in gene POGZ (pogo transposable element derived with ZNF domain) is benign or pathogenic. If pathogenic, identify the relevant disease(s).	pathogenic; ['Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome']	ACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATG	ACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATGNN	pathogenic	14,612
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 151408150, gene POGZ (pogo transposable element derived with ZNF domain): what disease(s) if pathogenic?	pathogenic; ['Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome', 'Smith-Magenis_Syndrome-like']	AGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATGACCACAAAACCTACCATTGAGAATCATCACCTCCCATGATATCAAAGAAAGATGGATTCTAGTCCAGGATGACTAAGTTCTCAAATCATCCTTTCCTGACTTGTTTTAACAATTTGAATGAGTGATGTAACCTTTATTTGTATTATATCTTTACACTGCTGACAACTGGACATTCTTCTGGACATTCTTCATTCTTCTTTTTTTAAAAAAGGACAATGTACATAGTAAACTAAAGTCATACTTTTTTTTCTATACTCTTCCAACTTTGCTTTCAACTCCAACACTCAGTCCCCTTCCATACAAACAACTTATTACCAGTTTCCTGAGTATGCTTTCGTGGGCAGTCTACACATATAACTGTATCACAAATACATTCATATCCAATCATTACCTGCCTCGCCCCCTTTTTTTGAGACAGGGTCTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGTTCATAGCTCACTGCACGTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCACGCCCGGCTACTTTTTGTATTTTTTTGTAGAGACGGGGTGTCACCATGTTGCCCAGGCTGGTCTTCAACTCCTGGGTTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGCATCACTGTGCCTGGCCCTTACTTTTTTCCCTTTCCTTTTTGTAGAGATGTTGTCTCACCATGTTGCCCAGGCTGGACTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCTCTTCTTTTTCTCCTTTTAACACAAATGATAGCACTTGTCTATACCTTGCTGTTTTCTCACTTAACACATCAGTATATACAGATATGTCTCCTGGTGAGACCACTTTGAGGATTCAGTCTGCCTAGTATTGAAGTCCTTCAAAAATAGAACCCATGTCTATGATTTTCTTTAGTAGGATAACAAAGCTCTGTAAGCTTAGGCTAAGAGACAATTTCCATGCCCCTATTTGGAAATACAGTTGTGGTAGACAATCAGCAGTCACTACTGTGCAAAGGAGACTATGAGTGTAATAGGGTACATATGTTTGTGTGCATATGTATGTGACTATTAAGCACACATGCACTCATCTTATTCTCCATTTTGAATCCTCTCTTATATACTATATACCTTTCACTCTCCTCTAGTGGCTCTCTTCTTGTAGTATTTTAAAACGAAGTCATAGCTTTTCATCTTATAAGGA	AGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATGACCACAAAACCTACCATTGAGAATCATCACCTCCCATGATATCAAAGAAAGATGGATTCTAGTCCAGGATGACTAAGTTCTCAAATCATCCTTTCCTGACTTGTTTTAACAATTTGAATGAGTGATGTAACCTTTATTTGTATTATATCTTTACACTGCTGACAACTGGACATTCTTCTGGACATTCTTCATTCTTCTTTTTTTAAAAAAGGACAATGTACATAGTAAACTAAAGTCATACTTTTTTTTCTATACTCTTCCAACTTTGCTTTCAACTCCAACACTCAGTCCCCTTCCATACAAACAACTTATTACCAGTTTCCTGAGTATGCTTTCGTGGGCAGTCTACACATATAACTGTATCACAAATACATTCATATCCAATCATTACCTGCCTCGCCCCCTTTTTTTGAGACAGGGTCTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGTTCATAGCTCACTGCACGTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCACGCCCGGCTACTTTTTGTATTTTTTTGTAGAGACGGGGTGTCACCATGTTGCCCAGGCTGGTCTTCAACTCCTGGGTTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGCATCACTGTGCCTGGCCCTTACTTTTTTCCCTTTCCTTTTTGTAGAGATGTTGTCTCACCATGTTGCCCAGGCTGGACTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCTCTTCTTTTTCTCCTTTTAACACAAATGATAGCACTTGTCTATACCTTGCTGTTTTCTCACTTAACACATCAGTATATACAGATATGTCTCCTGGTGAGACCACTTTGAGGATTCAGTCTGCCTAGTATTGAAGTCCTTCAAAAATAGAACCCATGTCTATGATTTTCTTTAGTAGGATAACAAAGCTCTGTAAGCTTAGGCTAAGAGACAATTTCCATGCCCCTATTTGGAAATACAGTTGTGGTAGACAATCAGCAGTCACTACTGTGCAAAGGAGACTATGAGTGTAATAGGGTACATATGTTTGTGTGCATATGTATGTGACTATTAAGCACACATGCACTCATCTTATTCTCCATTTTGAATCCTCTCTTATATACTATATACCTTTCACTCTCCTCTAGTGGCTCTCTTCTTGTAGTATTTTAAAACGAAGTCATAGCTTTTCATCTTATAAGGANNNN	pathogenic	14,619
Regarding the variant found on chromosome 1 at position 151408165 in gene POGZ (pogo transposable element derived with ZNF domain): is it benign or pathogenic? If pathogenic, identify the disease(s).	pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome']	AGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATGACCACAAAACCTACCATTGAGAATCATCACCTCCCATGATATCAAAGAAAGATGGATTCTAGTCCAGGATGACTAAGTTCTCAAATCATCCTTTCCTGACTTGTTTTAACAATTTGAATGAGTGATGTAACCTTTATTTGTATTATATCTTTACACTGCTGACAACTGGACATTCTTCTGGACATTCTTCATTCTTCTTTTTTTAAAAAAGGACAATGTACATAGTAAACTAAAGTCATACTTTTTTTTCTATACTCTTCCAACTTTGCTTTCAACTCCAACACTCAGTCCCCTTCCATACAAACAACTTATTACCAGTTTCCTGAGTATGCTTTCGTGGGCAGTCTACACATATAACTGTATCACAAATACATTCATATCCAATCATTACCTGCCTCGCCCCCTTTTTTTGAGACAGGGTCTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGTTCATAGCTCACTGCACGTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCACGCCCGGCTACTTTTTGTATTTTTTTGTAGAGACGGGGTGTCACCATGTTGCCCAGGCTGGTCTTCAACTCCTGGGTTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGCATCACTGTGCCTGGCCCTTACTTTTTTCCCTTTCCTTTTTGTAGAGATGTTGTCTCACCATGTTGCCCAGGCTGGACTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCTCTTCTTTTTCTCCTTTTAACACAAATGATAGCACTTGTCTATACCTTGCTGTTTTCTCACTTAACACATCAGTATATACAGATATGTCTCCTGGTGAGACCACTTTGAGGATTCAGTCTGCCTAGTATTGAAGTCCTTCAAAAATAGAACCCATGTCTATGATTTTCTTTAGTAGGATAACAAAGCTCTGTAAGCTTAGGCTAAGAGACAATTTCCATGCCCCTATTTGGAAATACAGTTGTGGTAGACAATCAGCAGTCACTACTGTGCAAAGGAGACTATGAGTGTAATAGGGTACATATGTTTGTGTGCATATGTATGTGACTATTAAGCACACATGCACTCATCTTATTCTCCATTTTGAATCCTCTCTTATATACTATATACCTTTCACTCTCCTCTAGTGGCTCTCTTCTTGTAGTATTTTAAAACGAAGTCATAGCTTTTCATCTTATAAGGAAAATAAAAGCAATAA	AGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATGACCACAAAACCTACCATTGAGAATCATCACCTCCCATGATATCAAAGAAAGATGGATTCTAGTCCAGGATGACTAAGTTCTCAAATCATCCTTTCCTGACTTGTTTTAACAATTTGAATGAGTGATGTAACCTTTATTTGTATTATATCTTTACACTGCTGACAACTGGACATTCTTCTGGACATTCTTCATTCTTCTTTTTTTAAAAAAGGACAATGTACATAGTAAACTAAAGTCATACTTTTTTTTCTATACTCTTCCAACTTTGCTTTCAACTCCAACACTCAGTCCCCTTCCATACAAACAACTTATTACCAGTTTCCTGAGTATGCTTTCGTGGGCAGTCTACACATATAACTGTATCACAAATACATTCATATCCAATCATTACCTGCCTCGCCCCCTTTTTTTGAGACAGGGTCTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGTTCATAGCTCACTGCACGTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCACGCCCGGCTACTTTTTGTATTTTTTTGTAGAGACGGGGTGTCACCATGTTGCCCAGGCTGGTCTTCAACTCCTGGGTTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGCATCACTGTGCCTGGCCCTTACTTTTTTCCCTTTCCTTTTTGTAGAGATGTTGTCTCACCATGTTGCCCAGGCTGGACTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCTCTTCTTTTTCTCCTTTTAACACAAATGATAGCACTTGTCTATACCTTGCTGTTTTCTCACTTAACACATCAGTATATACAGATATGTCTCCTGGTGAGACCACTTTGAGGATTCAGTCTGCCTAGTATTGAAGTCCTTCAAAAATAGAACCCATGTCTATGATTTTCTTTAGTAGGATAACAAAGCTCTGTAAGCTTAGGCTAAGAGACAATTTCCATGCCCCTATTTGGAAATACAGTTGTGGTAGACAATCAGCAGTCACTACTGTGCAAAGGAGACTATGAGTGTAATAGGGTACATATGTTTGTGTGCATATGTATGTGACTATTAAGCACACATGCACTCATCTTATTCTCCATTTTGAATCCTCTCTTATATACTATATACCTTTCACTCTCCTCTAGTGGCTCTCTTCTTGTAGTATTTTAAAACGAAGTCATAGCTTTTCATCTTATAAGGAAAATAAAAGCAATA	pathogenic	14,621
Variant chromosome 1, position 151408480, gene POGZ (pogo transposable element derived with ZNF domain): benign or pathogenic? Disease(s)?	benign	CGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATGACCACAAAACCTACCATTGAGAATCATCACCTCCCATGATATCAAAGAAAGATGGATTCTAGTCCAGGATGACTAAGTTCTCAAATCATCCTTTCCTGACTTGTTTTAACAATTTGAATGAGTGATGTAACCTTTATTTGTATTATATCTTTACACTGCTGACAACTGGACATTCTTCTGGACATTCTTCATTCTTCTTTTTTTAAAAAAGGACAATGTACATAGTAAACTAAAGTCATACTTTTTTTTCTATACTCTTCCAACTTTGCTTTCAACTCCAACACTCAGTCCCCTTCCATACAAACAACTTATTACCAGTTTCCTGAGTATGCTTTCGTGGGCAGTCTACACATATAACTGTATCACAAATACATTCATATCCAATCATTACCTGCCTCGCCCCCTTTTTTTGAGACAGGGTCTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGTTCATAGCTCACTGCACGTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCACGCCCGGCTACTTTTTGTATTTTTTTGTAGAGACGGGGTGTCACCATGTTGCCCAGGCTGGTCTTCAACTCCTGGGTTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGCATCACTGTGCCTGGCCCTTACTTTTTTCCCTTTCCTTTTTGTAGAGATGTTGTCTCACCATGTTGCCCAGGCTGGACTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCTCTTCTTTTTCTCCTTTTAACACAAATGATAGCACTTGTCTATACCTTGCTGTTTTCTCACTTAACACATCAGTATATACAGATATGTCTCCTGGTGAGACCACTTTGAGGATTCAGTCTGCCTAGTATTGAAGTCCTTCAAAAATAGAACCCATGTCTATGATTTTCTTTAGTAGGATAACAAAGCTCTGTAAGCTTAGGCTAAGAGACAATTTCCATGCCCCTATTTGGAAATACAGTTGTGGTAGACAATCAGCAGTCACTACTGTGCAAAGGAGACTATGAGTGTAATAGGGTACATATGTTTGTGTGCATATGTATGTGACTATTAAGCACACATGCACTCATCTTATTCTCCATTTTGAATCCTCTCTTATATACTATATACCTTTCACTCTCCTCTAGTGGCTCTCTTCTTGTAGTATTTTAAAACGAAGTCATAGCTTTTCATCTTATAAGGAAAATAAAAGCAATAAAAAACTCTTCTTTGCCACTTCTTCCTCTGGATTTACCTACCCTGGGTCCTCCCTTTTTATAAATAAACTTCTTTAAATACATCGTCTTCATTTCCTTACCTCTCATTCATTTGTTCTGCTGAAATGTGACTTCCACCCTACCAACCAACAAAATGGCTCTCATCAATGTTGCTAAATTAAAGGCCTGTTTCTAAGTCTCTATGTTGCTTGACACCTTCCTGTAACATATGACATTTTGATCACACCCTTTTCTTTAAAACACTTTCTTCTCCCCAGTTTCCTTAAGGTTAAGACTCTTCTGGTTTTCCTCCTAGT	CGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATGACCACAAAACCTACCATTGAGAATCATCACCTCCCATGATATCAAAGAAAGATGGATTCTAGTCCAGGATGACTAAGTTCTCAAATCATCCTTTCCTGACTTGTTTTAACAATTTGAATGAGTGATGTAACCTTTATTTGTATTATATCTTTACACTGCTGACAACTGGACATTCTTCTGGACATTCTTCATTCTTCTTTTTTTAAAAAAGGACAATGTACATAGTAAACTAAAGTCATACTTTTTTTTCTATACTCTTCCAACTTTGCTTTCAACTCCAACACTCAGTCCCCTTCCATACAAACAACTTATTACCAGTTTCCTGAGTATGCTTTCGTGGGCAGTCTACACATATAACTGTATCACAAATACATTCATATCCAATCATTACCTGCCTCGCCCCCTTTTTTTGAGACAGGGTCTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGTTCATAGCTCACTGCACGTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCACGCCCGGCTACTTTTTGTATTTTTTTGTAGAGACGGGGTGTCACCATGTTGCCCAGGCTGGTCTTCAACTCCTGGGTTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGCATCACTGTGCCTGGCCCTTACTTTTTTCCCTTTCCTTTTTGTAGAGATGTTGTCTCACCATGTTGCCCAGGCTGGACTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCTCTTCTTTTTCTCCTTTTAACACAAATGATAGCACTTGTCTATACCTTGCTGTTTTCTCACTTAACACATCAGTATATACAGATATGTCTCCTGGTGAGACCACTTTGAGGATTCAGTCTGCCTAGTATTGAAGTCCTTCAAAAATAGAACCCATGTCTATGATTTTCTTTAGTAGGATAACAAAGCTCTGTAAGCTTAGGCTAAGAGACAATTTCCATGCCCCTATTTGGAAATACAGTTGTGGTAGACAATCAGCAGTCACTACTGTGCAAAGGAGACTATGAGTGTAATAGGGTACATATGTTTGTGTGCATATGTATGTGACTATTAAGCACACATGCACTCATCTTATTCTCCATTTTGAATCCTCTCTTATATACTATATACCTTTCACTCTCCTCTAGTGGCTCTCTTCTTGTAGTATTTTAAAACGAAGTCATAGCTTTTCATCTTATAAGGAAAATAAAAGCAATAAAAAACTCTTCTTTGCCACTTCTTCCTCTGGATTTACCTACCCTGGGTCCTCCCTTTTTATAAATAAACTTCTTTAAATACATCGTCTTCATTTCCTTACCTCTCATTCATTTGTTCTGCTGAAATGTGACTTCCACCCTACCAACCAACAAAATGGCTCTCATCAATGTTGCTAAATTAAAGGCCTGTTTCTAAGTCTCTATGTTGCTTGACACCTTCCTGTAACATATGACATTTTGATCACACCCTTTTCTTTAAAACACTTTCTTCTCCCCAGTTTCCTTAAGGTTAAGACTCTTCTGGTTTTCCTCCTAGTNNN	benign	14,624
Gene POGZ (pogo transposable element derived with ZNF domain) variant at chromosome 1, position 151424958—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome', 'Neurodevelopmental_disorder', 'POGZ-related_disorder', 'dysmorphy', 'intellectual_deficiency']	CTTAATTTCTTTGAGCTTATGTCCAGCCTACATGTATAAAATATACAGTGTAGAAAACACTCCAGCTCATCTTATATTTCATTGAAAGCAATGTCTTAATGATAAAGTACTTCACAATATTATCTTTTAGCCTACATAAAACCTATCAGGGTTTAACTAAAGTGGAAGAGCAAATAGATGACTGTTCCTTCTATAAAGAGACCTAAGAAATAAATTAATTACATTTGTTTTTCTACAGTGGTTCTGAATCAACGCCCCTAACAATTCAGGATCTAACACTGAACTCAATCCATGCTTGAACAAAATAAAAGTCAGGCTTGTAAAAAAAAACAAGGTGAATGAAGTAAAGAACTGGCTACAAATATGAAAAGTACTTCCTCTACACTGTTACCCACATGTAAATAAATATAATGGGCTCCCCCCAGCGCCATTCAATGAGTGAACAGCAAGGTATATTCCCCTTGAGTTTAAGAGTTTCCAAACTTACTAGTAGATTCATAGGGACTATGAACATTTTCCAAGTGGCACTGAAGCTGGAAGGGAGTGGAAAACTGGCGGTAACAGTGCTGGCAGATAGTGTGACCATCTACCTCACCGTTCTGCTGATCGAGTTCTACGTGGTGTTTCATATGGTTCATGAATCTGTAATAAAGCACAAAGAGAAAGTACAGAAAACATAAAAAATTGGTAGCCTTTTAGAAATATAATGGTAAAATCACAGAACAAACATTATCTGCTCCCCTCCATTCCCCAGACTTCCTGTTTGGGATATCCTTTTCTGAGCCCAGAAAGATAATGAGTTCTTGAAACTAAGAGAGTTCTGGGAAAGGAGACATACTGCTTTCCCTTACTCGATCCAGTTACCTTTTGTTTATTACCACAATATCTCCTTCTATAGTCCTAGTTATTGATTTAATGATAACCCCAGCAAGACTGCATAGTAGTTAGGTCCATTCTCCAAAGAGAAAGACTTAAAATATATAAGAAAATGTAAGTCTTCTCTTGTTCAAGGTAACTTCCAAGGCTCTTAAACACTTACCGAATATTGTTTTTTAGCCTTTTGGTACAATGTGGGCATCGGAAAGATGTGGCGACCTTAGGGAAATTTGTGAGCTGGGCTACTTTGCCACCATCCCGTCCATAGTAGAAGTCATCTACAAGCATAATGAGTTTGGTCTGGACGGCATCGCCCACGTTCTCATTTGGTTCTGGTACTTTGGTAGGCGGTGACAGAGCAGGAATAGGTGTAGAAGAGGGTGTGGAAGCAACAGGAGCTGTTTTCTCAGGGGATGGGGGCTTTGCTGCTGATGGGACACTGGGTTCTGAATCCAGGGACTTTCCTTTCTTCTGGTATTCAACCATTTCTGGGCAACAGTACTATAAAGAAAGACATCTGATCATTCTGGTTATCCTGGGGGCTAGAATGTGCTAACTCCTTAACTTCACTACCATTCCTTGTTAACGGTTTGGTTTCAGGTATTCTCATTCAGCTTTCACCCTTCAGTTTTTTTTAGCGTTTCCAAGTTTTACTCCTTTTCTAGAGTATATCCACATATGCCACCCAAGCGCTATACTTTGTATTTCTCCCTCCTGCCTGTCTTAGGTCCCTTAATCATTAGTATAACTTGGCTCTGAGCTCCCTGGCAAAGAAGAAGTTCCAACCTTTTTATCTGGACTAATACCAAAAAATGAAAAGCTAAAAAATGGAAGTAAGAGCTCCCGATTCATCCAATGACACAATTAACAAAAATGAACTGAGGCCAATATGGTTTGAGTCCTTATTATCTATAAACCTGTTCTCCTGTGTGGTTTCAAAATCTACCACACTAAGAAAGTAAGATCACATATGTTCTGATCTATTTGAGGGTCTTTAAATGTATCCCATCACATTCCAAAGTACACAGCTCTTCTAAAAACAGACCAAGAGAAACAGTAACCCTTTAAAAAGCTTCAGTCATTTTAGAGCCCCTGCTTACAAGCTTCCAATATTAATGAAGGTAAATGGCAGAAGCCACTTAAGCTGGATCACAGGTGATATCACTTACACACATGTGACCTCTCAAAGCTTCAGTAACACGAAATTGAGCATTACATCGTGGACATATTTTCCGTCCACCATCCTGGAGGTCAAATACTGGGATGGAAGAGGTCACTGAAAGAAGTGAGAAGAATTGATAAGATTAATACAATGACACTGGAAAAAGATTACTGACCTTTTGGGAAAAAGTCAAACACTCCCTGAGAAGTATATAAAAGGGTAAGCAAGCATGAGAGATCACTATGGTTTTTGTTTGTTTTTGTTTTTTTTGAGACACGGTCTCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCACAGCTCACTGCAGCCTTGACCTCCCTGGGCTCAAGATCACTATGTTTGAGGCTTCCTTTTACTGTTCTAACTCTAGGCCAGGGGTCAGCAAACCACAGCACACAGATCAAATCCAGCCCAGCTACCAGTTTCTGTTTGGCCCATAAGCTAAGAATAATTTGTATGTGATTTTTTTGTTAAGGTTTTTGTTTTTTTTAATCTTGCAGAACTGAAGCTATATCCAATAAAAACCTCCTCACCATTCTCCCCTCGCCTCCACCCCGGCAACCACAATTCAACTTTGTCTCTATGAATTTGACTACTCTAGGTACCTCAAGTAAGTGGAATCATATGGTACTTGTCCTTTTGTGACTAGCCTATTTCACTTTAACATAATGTCCTCAAGGTTCAACCATGTTGCAGCACATGTTGTAGCAGAATTTCCTTTCTTAAGCCTGAACAATATACCATTGTATGTGAATACCACATTTTATTTATCCCTTTATCAGTTGATGGACCTCTGTGTTGCTTTCACCTTTCAGCTATTGTGAATAATGTTGCAATGAACATAGGTGTACAAATACCTGTTCTAGTCCCTGCTTTCAATTCTTTTGGGTATAGAATGGAATTCCTGGAGCATACAACAATTCTATCATTTTTAACTTTTTGAGGAACCACCATACTGTTTCCAAAGTGGCTGCATAATTTTACATTTCCACCAACAGTGCGTAAGGGTTCTGCTTTCTCCACATCCTCAACAATATTTGTTATTTTATGGTTCTTTGATAGTAGCCATCCTAATGGGAGTGAGACGGTACCTCATTGTGGTTTTGATTTGCATTTCCATAATGATTAATAACACTGAGCACCTTTTCATGAGCTTATTGGCAATAACTTTCTTTGGAGAAAGGTCTATTCAGTCCTTTGCCTACTTTCCTACTTTTTTTTTTTTTTTTGAGATGGGGTCTTTCTCTGTTGCCCAGACTGGAGTGCAGTGGCACAATCTCGACTCACCACAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGTCTCAGCCTCCCGAGCAGCTGGGAATACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATTATTGGTCAGGCTGGTCTTGGACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCACCACGACCAGCGAGTCCTTTGTCTATTTTTTAAAAAGGTTGTTTGGGAGTTTTTTTGTTGTTGAACTGCACAAATTCTTTATATATTCTGGATATTAACCCCTTATTAGATACATAATTTGCAAATATTTTCTCCCATTCTGTGGCTTCCCTTTTCACTGTGTTGACAACGTCCTGCACAAAAGTTTTAAATTTTGATATAATTTAATTTACTCATTTTTTCTTTTCTTGCGTATGCTTTTGGTGTCATATCCAAGAAATAGTAATCACTGTCAAATCCAGTATCATGAAGCTTTTTGTCCTATAATTTTTCTAAGAGTCTTATAGTTTTAGTTCATTTAGGTCTTTGATCCATTTTGAGTTAATTTTTGTATTTATTGTAAGGTAAGATCCAACTTCTTTTGGACATGGATATCTAGTTTTCCCAACACCATGTTTTAAAGGTTTTTACTTTTTTTGAGACAGGGTGTCGTTCTGTTGCAGTGGCATGCTCATGGCTCACTGCAGGCTCAACCTTCTGGGTTCAAGCCCAA	CTTAATTTCTTTGAGCTTATGTCCAGCCTACATGTATAAAATATACAGTGTAGAAAACACTCCAGCTCATCTTATATTTCATTGAAAGCAATGTCTTAATGATAAAGTACTTCACAATATTATCTTTTAGCCTACATAAAACCTATCAGGGTTTAACTAAAGTGGAAGAGCAAATAGATGACTGTTCCTTCTATAAAGAGACCTAAGAAATAAATTAATTACATTTGTTTTTCTACAGTGGTTCTGAATCAACGCCCCTAACAATTCAGGATCTAACACTGAACTCAATCCATGCTTGAACAAAATAAAAGTCAGGCTTGTAAAAAAAAACAAGGTGAATGAAGTAAAGAACTGGCTACAAATATGAAAAGTACTTCCTCTACACTGTTACCCACATGTAAATAAATATAATGGGCTCCCCCCAGCGCCATTCAATGAGTGAACAGCAAGGTATATTCCCCTTGAGTTTAAGAGTTTCCAAACTTACTAGTAGATTCATAGGGACTATGAACATTTTCCAAGTGGCACTGAAGCTGGAAGGGAGTGGAAAACTGGCGGTAACAGTGCTGGCAGATAGTGTGACCATCTACCTCACCGTTCTGCTGATCGAGTTCTACGTGGTGTTTCATATGGTTCATGAATCTGTAATAAAGCACAAAGAGAAAGTACAGAAAACATAAAAAATTGGTAGCCTTTTAGAAATATAATGGTAAAATCACAGAACAAACATTATCTGCTCCCCTCCATTCCCCAGACTTCCTGTTTGGGATATCCTTTTCTGAGCCCAGAAAGATAATGAGTTCTTGAAACTAAGAGAGTTCTGGGAAAGGAGACATACTGCTTTCCCTTACTCGATCCAGTTACCTTTTGTTTATTACCACAATATCTCCTTCTATAGTCCTAGTTATTGATTTAATGATAACCCCAGCAAGACTGCATAGTAGTTAGGTCCATTCTCCAAAGAGAAAGACTTAAAATATATAAGAAAATGTAAGTCTTCTCTTGTTCAAGGTAACTTCCAAGGCTCTTAAACACTTACCGAATATTGTTTTTTAGCCTTTTGGTACAATGTGGGCATCGGAAAGATGTGGCGACCTTAGGGAAATTTGTGAGCTGGGCTACTTTGCCACCATCCCGTCCATAGTAGAAGTCATCTACAAGCATAATGAGTTTGGTCTGGACGGCATCGCCCACGTTCTCATTTGGTTCTGGTACTTTGGTAGGCGGTGACAGAGCAGGAATAGGTGTAGAAGAGGGTGTGGAAGCAACAGGAGCTGTTTTCTCAGGGGATGGGGGCTTTGCTGCTGATGGGACACTGGGTTCTGAATCCAGGGACTTTCCTTTCTTCTGGTATTCAACCATTTCTGGGCAACAGTACTATAAAGAAAGACATCTGATCATTCTGGTTATCCTGGGGGCTAGAATGTGCTAACTCCTTAACTTCACTACCATTCCTTGTTAACGGTTTGGTTTCAGGTATTCTCATTCAGCTTTCACCCTTCAGTTTTTTTTAGCGTTTCCAAGTTTTACTCCTTTTCTAGAGTATATCCACATATGCCACCCAAGCGCTATACTTTGTATTTCTCCCTCCTGCCTGTCTTAGGTCCCTTAATCATTAGTATAACTTGGCTCTGAGCTCCCTGGCAAAGAAGAAGTTCCAACCTTTTTATCTGGACTAATACCAAAAAATGAAAAGCTAAAAAATGGAAGTAAGAGCTCCCGATTCATCCAATGACACAATTAACAAAAATGAACTGAGGCCAATATGGTTTGAGTCCTTATTATCTATAAACCTGTTCTCCTGTGTGGTTTCAAAATCTACCACACTAAGAAAGTAAGATCACATATGTTCTGATCTATTTGAGGGTCTTTAAATGTATCCCATCACATTCCAAAGTACACAGCTCTTCTAAAAACAGACCAAGAGAAACAGTAACCCTTTAAAAAGCTTCAGTCATTTTAGAGCCCCTGCTTACAAGCTTCCAATATTAATGAAGGTAAATGGCAGAAGCCACTTAAGCTGGATCACAGGTGATATCACTTACACACGTGACCTCTCAAAGCTTCAGTAACACGAAATTGAGCATTACATCGTGGACATATTTTCCGTCCACCATCCTGGAGGTCAAATACTGGGATGGAAGAGGTCACTGAAAGAAGTGAGAAGAATTGATAAGATTAATACAATGACACTGGAAAAAGATTACTGACCTTTTGGGAAAAAGTCAAACACTCCCTGAGAAGTATATAAAAGGGTAAGCAAGCATGAGAGATCACTATGGTTTTTGTTTGTTTTTGTTTTTTTTGAGACACGGTCTCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCACAGCTCACTGCAGCCTTGACCTCCCTGGGCTCAAGATCACTATGTTTGAGGCTTCCTTTTACTGTTCTAACTCTAGGCCAGGGGTCAGCAAACCACAGCACACAGATCAAATCCAGCCCAGCTACCAGTTTCTGTTTGGCCCATAAGCTAAGAATAATTTGTATGTGATTTTTTTGTTAAGGTTTTTGTTTTTTTTAATCTTGCAGAACTGAAGCTATATCCAATAAAAACCTCCTCACCATTCTCCCCTCGCCTCCACCCCGGCAACCACAATTCAACTTTGTCTCTATGAATTTGACTACTCTAGGTACCTCAAGTAAGTGGAATCATATGGTACTTGTCCTTTTGTGACTAGCCTATTTCACTTTAACATAATGTCCTCAAGGTTCAACCATGTTGCAGCACATGTTGTAGCAGAATTTCCTTTCTTAAGCCTGAACAATATACCATTGTATGTGAATACCACATTTTATTTATCCCTTTATCAGTTGATGGACCTCTGTGTTGCTTTCACCTTTCAGCTATTGTGAATAATGTTGCAATGAACATAGGTGTACAAATACCTGTTCTAGTCCCTGCTTTCAATTCTTTTGGGTATAGAATGGAATTCCTGGAGCATACAACAATTCTATCATTTTTAACTTTTTGAGGAACCACCATACTGTTTCCAAAGTGGCTGCATAATTTTACATTTCCACCAACAGTGCGTAAGGGTTCTGCTTTCTCCACATCCTCAACAATATTTGTTATTTTATGGTTCTTTGATAGTAGCCATCCTAATGGGAGTGAGACGGTACCTCATTGTGGTTTTGATTTGCATTTCCATAATGATTAATAACACTGAGCACCTTTTCATGAGCTTATTGGCAATAACTTTCTTTGGAGAAAGGTCTATTCAGTCCTTTGCCTACTTTCCTACTTTTTTTTTTTTTTTTGAGATGGGGTCTTTCTCTGTTGCCCAGACTGGAGTGCAGTGGCACAATCTCGACTCACCACAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGTCTCAGCCTCCCGAGCAGCTGGGAATACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATTATTGGTCAGGCTGGTCTTGGACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCACCACGACCAGCGAGTCCTTTGTCTATTTTTTAAAAAGGTTGTTTGGGAGTTTTTTTGTTGTTGAACTGCACAAATTCTTTATATATTCTGGATATTAACCCCTTATTAGATACATAATTTGCAAATATTTTCTCCCATTCTGTGGCTTCCCTTTTCACTGTGTTGACAACGTCCTGCACAAAAGTTTTAAATTTTGATATAATTTAATTTACTCATTTTTTCTTTTCTTGCGTATGCTTTTGGTGTCATATCCAAGAAATAGTAATCACTGTCAAATCCAGTATCATGAAGCTTTTTGTCCTATAATTTTTCTAAGAGTCTTATAGTTTTAGTTCATTTAGGTCTTTGATCCATTTTGAGTTAATTTTTGTATTTATTGTAAGGTAAGATCCAACTTCTTTTGGACATGGATATCTAGTTTTCCCAACACCATGTTTTAAAGGTTTTTACTTTTTTTGAGACAGGGTGTCGTTCTGTTGCAGTGGCATGCTCATGGCTCACTGCAGGCTCAACCTTCTGGGTTCAAGCCCAANN	pathogenic	14,646
Evaluate the clinical significance of the mutation at chromosome 1, position 151612258 in gene SNX27: benign or pathogenic? What disease(s) does a pathogenic variant suggest?	benign	ACCTAAACCTCCTAAGTAGCTGGGACTACAGGTATGTGCCATCATGCCCAGCTGCTTTTTTTTTTTTTTTAGATATAGTCTCGCTCAGCCACCAGCTAATTTTTTATTTTTTGTTGAGATGGGGTCTCACTATGTTGCCCAGTTTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCCCACCTCGGTCTCCCAAAGTGCTGGTATTACAGGCATGAGCCACCACACCCAGCCTTTAAAAATTTGGGGGGACTCTTTTGTAATAACAGTTAGCTTAAAACACAAACACATTGTACAGATGTACAAAATATTTTCTTTCTTTATATCTTTATTCCATAAGCTTTTTTTCTATTTAAGGCAATTTTTAATTTTATGTTTTAAACTTTTTTTTTTGGTTAAAAACTAAGACTTAAACACAAACATAGCCTATGCCTACACCAGATCTGGATCATCAATTTCACTGTCTTCCACCTCCATCTCTTGTCTCACTGGAAGGTCTTCATGGGTAATAACATGCACAGAGCTGTCATCTGATGGTAACAATAACTGGGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGTTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAATTAGCCAGGCATGGTGGCGCATGCGTTTAATCGCAAGGGATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGATATCGTGCCATTGCATTCCAGCCTGGGCGATAAGAGCGAAACTCCATCTTAAAAAAAAAAAAAACAAAAAAACAAAACAAAACAAAAAAACACAATACTTGGAATACGTGGAAAAAAATCACAATACTTAGAATACCTAGAATACCTTCTGAAGGACCTGCCTGAGGCTGCTTTACAGTTAACTTAAAAAAAAAAGTAGAAGGAGTACACTCTAAAATAGTGATAAAAACTACAGTGAATTCATAAACTAGTAACATAGTTCTTACCATTATCAAGTATTATGTACTGTACATAATCATATGTGCTATACTTTCACATGACTGGCAGTGCAGGTTTGTTAACACCAGCATCACTCCAAACATGTGAGTAATGCTTGTGCTATGACCTTATGGTGGCTACTGTGCCACTAGGTGATAGACATTTTTCAGCTCCATTATCATCTTAGGGGGCCTCCCTCGTGTTTGCAGTCCATTGTAGACCAAAATGTCCTTATGTGGCACATGACTGTAGTTGCAATACAGGACAAGAAAGTTGCACAATAACTGGGCCTTAGTTCCTGATACTTAGTAGCTGGATGACTTTGAGCACTCTAAGGTTGTTTCCTAATAACGTAAAATAGGGAAGCTAATCGTGATCCGGTTGCCTCACAGGTTGTTGGGCCCTGGTCAACATATAAGTTACTGTGCCAAAAAATGAGTTGATATAATTTAAGACTGTGTTGAATCACAAACGTTAAGTTATTCTAACATTATTGTTTTTTAGAGGTTATGAAATGAAAGGGGGGGGGGCGAAAAACTTGGTCCGCATCAAGAACTGAATCATTTTACCACGCTGGGTGCTGGGTTATACTCTCCCCACCCAGCAGATCAAACTCCTAACCCAGCATGAAAGATAAACTACAACTCCCGGCAGGCCTTGCTTCCGAACTGCGTCTTATAACCTCGGCTCAGGCCCAGGCCCAGACCGCTCCCCGCCCCCGCCACCCATAAACTACATCTCCCAGGAGGCCCCACGGTGCCCGATTGTCCGCTTTTCGCCCGCCCCCTGCCTCCTCTTCACCCCGCGCCAGCAGCTCGGTGGCCGAGTCGGTCCCGCGGCCGGCGGATCGGGCGCGCGCGTCGGGGGTCGTCCGGCTGCCAGGCAGGGCGAGCACGCGCCGGGAGGCCTTGGAGGCGTAGGGGGCGGGGGTACGGCTCGCCTGCTCGCAAGATGGCGGACGAGGACGGGGAAGGGATTCATCCCTCAGCCCCTCACAGGAACGGAGGTGGCGGCGGCGGCGGGGGGTCTGGGCTCCACTGCGCCGGGAACGGCGGCGGGGGAGGCGGCGGCCCGCGGGTCGTGCGCATCGTCAAGTCCGAGTCCGGCTACGGCTTCAACGTGCGGGGCCAAGTGAGCGAGGGCGGGCAACTGCGGAGCATCAACGGGGAGCTGTACGCGCCGCTGCAGCATGTGAGCGCCGTGCTGCCCGGGGGGGCGGCCGATCGGGCCGGGGTGCGCAAGGGGGACCGCATCCTGGAGGTGTGAGTATCGGGGCTACCCGCCGCCCCATCCTCCCCGCGCCCCTCCTGCCCCTGCACTCCTCGCTACCCTTGTCACCCCCAGGCCGCACCTCCCCCGAGCTCCGAGCCGGCCTCCGGACCCCCGCCCCTCAGGCCTCCGCAGCCGGGCCCCTCCTTGTGGGCTGCCCTCCCACCACCCGCCCCGGGGCTTCTGCGACGCCGGTCTCCCACCCCGTCGTCTCCAGCTGATGCCCTTGCGCCCCCAGTGCTCCTCCCTGTGCCCCGATTACTCTGGGCTCTTCTCCGCCCCTTTGCCTTCCCGTTTGGCGTGCTGCATTCTGCTCCTCACTCCCCCTCGTCTTGCTCAGAAGGAACCTCATCTGCTCCTTACTGACGGCGTTTCGTTTTCTGATCCAGCCAGTACCGTGTCCCCCCCAAGTTCTCATCTTCAGCATCGCAGTTTCGTTCTCCACCACTCCCCTCCGCCCCCGTGGACTGCCCCTTCTGCCCTCCAGACCAAGTAGGCAGGACCTCTGGTCTGCTCCTACTTTTCCTCCGGAAACACCATCCCTCCCCGCTCGTCTCCTTTTTCTTTCCTTAGTTACCCTCTCCTCATGGTTACGCTGCCCCTAAATTTTTCCATCCCACCGTGTGCCCCTTTCCTCCCCTCCTTTTTGTATTTCTACTCCAAGAGTTTACCTTGCTTTCTGACCCTTGCATGCCTTTGGGGTGGGGGGCGTGGGATTTGACACCGTAGTTTCTCTTCTCGGTTGGCCCCGTATCACACCCTAATTTGGAATCTAGCGTCTCCATCAGCACACCCCTCTGAGAGCATCCCTTCCCTGGCCTCCTGCCTTCACTCCTGCTCTATACTCATGCCTCCTCCTAGTCAGGTTTATGGTAGACCCCTTGTAACTCCTCCTCCTTCAAAACTACTTCAAGCCCTTTTTGGGTCTTTGACCGCTTTGCTTTTTTAGGGCATGCCCGTCTCTGCTGCCTCTTCTACTCTATCCTCCTGTGATCCCACACTTGACTTTGTCCTAGTCTTTCCCTCCCCTAGGCTGCTTTTCCTTTCTTCTGTTTTTTAAGGCGCCTTCTGCTGCTGCAGCCCACCCTCTCTCCCCTGCTGCAGTCCCTCCCCCTTCATACGCCTCCCCCACCACATCCCTCCATGCTCTTGCGGGATGCTGCCTTGTCTTGCAATCTCTGTGCACACCGCCTCCATTACCCTAATCTAGGTGTTACATTTGCCTTTTTGTACTTCGTATTGAAATTCGGATAGTGATTGCCGGTTGACTTGCAGGTGGTGTGTGCTCGCGTTGTCTCCGTTCTCCTCAGCAGTCTTCAGTGCTGTGTTTCTGCTTACTGAATCTATGTTGTGCATTCCTTTTTTACACTTTTACTCTCTCCCTCCATATTTCGATTTGCCCACTTGAAATCGTTCTCATTTTTTATAAATTTTAATTGTAATTTCCGCAACCTTCTGTTGCCTCTTGTAAAACAGTAGGTTTGCAAAAGGGATAGTTTTTTGAAAATCTGCCTTATAGAGAAATCCATTCCTTCTTACTCATCTCGTGCCATCTACCCTTATCCTTGACATTCTTAACTCCATGGTGTCCACTCATTCTGTTTCCTCACCTCTTCCACCTCAAGAAATGGTTGGTTTTAACCTGGGAGAGTTGATTGAAAAAAAAAAAAAGAAATAGTTGCTCACCTAGGCCAGTGTTTGGAGACAGTATACCTTTCCTCTGTCCTTTCTGTAAATAGATGCTTTCTTGTTTCATTAATGTCCTACATACTGTTTCCTAGTATTC	ACCTAAACCTCCTAAGTAGCTGGGACTACAGGTATGTGCCATCATGCCCAGCTGCTTTTTTTTTTTTTTTAGATATAGTCTCGCTCAGCCACCAGCTAATTTTTTATTTTTTGTTGAGATGGGGTCTCACTATGTTGCCCAGTTTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCCCACCTCGGTCTCCCAAAGTGCTGGTATTACAGGCATGAGCCACCACACCCAGCCTTTAAAAATTTGGGGGGACTCTTTTGTAATAACAGTTAGCTTAAAACACAAACACATTGTACAGATGTACAAAATATTTTCTTTCTTTATATCTTTATTCCATAAGCTTTTTTTCTATTTAAGGCAATTTTTAATTTTATGTTTTAAACTTTTTTTTTTGGTTAAAAACTAAGACTTAAACACAAACATAGCCTATGCCTACACCAGATCTGGATCATCAATTTCACTGTCTTCCACCTCCATCTCTTGTCTCACTGGAAGGTCTTCATGGGTAATAACATGCACAGAGCTGTCATCTGATGGTAACAATAACTGGGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGTTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAATTAGCCAGGCATGGTGGCGCATGCGTTTAATCGCAAGGGATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGATATCGTGCCATTGCATTCCAGCCTGGGCGATAAGAGCGAAACTCCATCTTAAAAAAAAAAAAAACAAAAAAACAAAACAAAACAAAAAAACACAATACTTGGAATACGTGGAAAAAAATCACAATACTTAGAATACCTAGAATACCTTCTGAAGGACCTGCCTGAGGCTGCTTTACAGTTAACTTAAAAAAAAAAGTAGAAGGAGTACACTCTAAAATAGTGATAAAAACTACAGTGAATTCATAAACTAGTAACATAGTTCTTACCATTATCAAGTATTATGTACTGTACATAATCATATGTGCTATACTTTCACATGACTGGCAGTGCAGGTTTGTTAACACCAGCATCACTCCAAACATGTGAGTAATGCTTGTGCTATGACCTTATGGTGGCTACTGTGCCACTAGGTGATAGACATTTTTCAGCTCCATTATCATCTTAGGGGGCCTCCCTCGTGTTTGCAGTCCATTGTAGACCAAAATGTCCTTATGTGGCACATGACTGTAGTTGCAATACAGGACAAGAAAGTTGCACAATAACTGGGCCTTAGTTCCTGATACTTAGTAGCTGGATGACTTTGAGCACTCTAAGGTTGTTTCCTAATAACGTAAAATAGGGAAGCTAATCGTGATCCGGTTGCCTCACAGGTTGTTGGGCCCTGGTCAACATATAAGTTACTGTGCCAAAAAATGAGTTGATATAATTTAAGACTGTGTTGAATCACAAACGTTAAGTTATTCTAACATTATTGTTTTTTAGAGGTTATGAAATGAAAGGGGGGGGGGCGAAAAACTTGGTCCGCATCAAGAACTGAATCATTTTACCACGCTGGGTGCTGGGTTATACTCTCCCCACCCAGCAGATCAAACTCCTAACCCAGCATGAAAGATAAACTACAACTCCCGGCAGGCCTTGCTTCCGAACTGCGTCTTATAACCTCGGCTCAGGCCCAGGCCCAGACCGCTCCCCGCCCCCGCCACCCATAAACTACATCTCCCAGGAGGCCCCACGGTGCCCGATTGTCCGCTTTTCGCCCGCCCCCTGCCTCCTCTTCACCCCGCGCCAGCAGCTCGGTGGCCGAGTCGGTCCCGCGGCCGGCGGATCGGGCGCGCGCGTCGGGGGTCGTCCGGCTGCCAGGCAGGGCGAGCACGCGCCGGGAGGCCTTGGAGGCGTAGGGGGCGGGGGTACGGCTCGCCTGCTCGCAAGATGGCGGACGAGGACGGGGAAGGGATTCATCCCTCAGCCCCTCACAGGAACGGAGGTGGCGGCGGCGGCGGCGGGGGGTCTGGGCTCCACTGCGCCGGGAACGGCGGCGGGGGAGGCGGCGGCCCGCGGGTCGTGCGCATCGTCAAGTCCGAGTCCGGCTACGGCTTCAACGTGCGGGGCCAAGTGAGCGAGGGCGGGCAACTGCGGAGCATCAACGGGGAGCTGTACGCGCCGCTGCAGCATGTGAGCGCCGTGCTGCCCGGGGGGGCGGCCGATCGGGCCGGGGTGCGCAAGGGGGACCGCATCCTGGAGGTGTGAGTATCGGGGCTACCCGCCGCCCCATCCTCCCCGCGCCCCTCCTGCCCCTGCACTCCTCGCTACCCTTGTCACCCCCAGGCCGCACCTCCCCCGAGCTCCGAGCCGGCCTCCGGACCCCCGCCCCTCAGGCCTCCGCAGCCGGGCCCCTCCTTGTGGGCTGCCCTCCCACCACCCGCCCCGGGGCTTCTGCGACGCCGGTCTCCCACCCCGTCGTCTCCAGCTGATGCCCTTGCGCCCCCAGTGCTCCTCCCTGTGCCCCGATTACTCTGGGCTCTTCTCCGCCCCTTTGCCTTCCCGTTTGGCGTGCTGCATTCTGCTCCTCACTCCCCCTCGTCTTGCTCAGAAGGAACCTCATCTGCTCCTTACTGACGGCGTTTCGTTTTCTGATCCAGCCAGTACCGTGTCCCCCCCAAGTTCTCATCTTCAGCATCGCAGTTTCGTTCTCCACCACTCCCCTCCGCCCCCGTGGACTGCCCCTTCTGCCCTCCAGACCAAGTAGGCAGGACCTCTGGTCTGCTCCTACTTTTCCTCCGGAAACACCATCCCTCCCCGCTCGTCTCCTTTTTCTTTCCTTAGTTACCCTCTCCTCATGGTTACGCTGCCCCTAAATTTTTCCATCCCACCGTGTGCCCCTTTCCTCCCCTCCTTTTTGTATTTCTACTCCAAGAGTTTACCTTGCTTTCTGACCCTTGCATGCCTTTGGGGTGGGGGGCGTGGGATTTGACACCGTAGTTTCTCTTCTCGGTTGGCCCCGTATCACACCCTAATTTGGAATCTAGCGTCTCCATCAGCACACCCCTCTGAGAGCATCCCTTCCCTGGCCTCCTGCCTTCACTCCTGCTCTATACTCATGCCTCCTCCTAGTCAGGTTTATGGTAGACCCCTTGTAACTCCTCCTCCTTCAAAACTACTTCAAGCCCTTTTTGGGTCTTTGACCGCTTTGCTTTTTTAGGGCATGCCCGTCTCTGCTGCCTCTTCTACTCTATCCTCCTGTGATCCCACACTTGACTTTGTCCTAGTCTTTCCCTCCCCTAGGCTGCTTTTCCTTTCTTCTGTTTTTTAAGGCGCCTTCTGCTGCTGCAGCCCACCCTCTCTCCCCTGCTGCAGTCCCTCCCCCTTCATACGCCTCCCCCACCACATCCCTCCATGCTCTTGCGGGATGCTGCCTTGTCTTGCAATCTCTGTGCACACCGCCTCCATTACCCTAATCTAGGTGTTACATTTGCCTTTTTGTACTTCGTATTGAAATTCGGATAGTGATTGCCGGTTGACTTGCAGGTGGTGTGTGCTCGCGTTGTCTCCGTTCTCCTCAGCAGTCTTCAGTGCTGTGTTTCTGCTTACTGAATCTATGTTGTGCATTCCTTTTTTACACTTTTACTCTCTCCCTCCATATTTCGATTTGCCCACTTGAAATCGTTCTCATTTTTTATAAATTTTAATTGTAATTTCCGCAACCTTCTGTTGCCTCTTGTAAAACAGTAGGTTTGCAAAAGGGATAGTTTTTTGAAAATCTGCCTTATAGAGAAATCCATTCCTTCTTACTCATCTCGTGCCATCTACCCTTATCCTTGACATTCTTAACTCCATGGTGTCCACTCATTCTGTTTCCTCACCTCTTCCACCTCAAGAAATGGTTGGTTTTAACCTGGGAGAGTTGATTGAAAAAAAAAAAAAGAAATAGTTGCTCACCTAGGCCAGTGTTTGGAGACAGTATACCTTTCCTCTGTCCTTTCTGTAAATAGATGCTTTCTTGTTTCATTAATGTCCTACATACTGTTTCCTAGTA	benign	14,682
Does the chromosome 1 mutation at position 152111699 within gene TCHH (trichohyalin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).	benign	TCCTGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCGCGGTATTGCCTCTCCAGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCACCTCCTCTTCCTCCCGATATTGCCTCTCCAGCTCCTGGCGCCTTCTCTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCCCGACATTGCCTCTCCCGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTTCCGATATTGCCTCTCCAGCTCCTGGCGCCTTCTCGTCTCCCGTTCCTCTCCCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCCCGATATTGCCTCTCCCGCTCCTGGAGTCTTCTTTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCTTCCTGCTGCAGCTCGTCTTTTTTGCGGTACTGCCTCTCCCACTCCTGGCGCCTTCTCTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAACTCCTCTTCCTCGCGGTATTTTTTCTCCCGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCCCAGCAGCTGCTCTTCCTTCTGCTGCAGCTTCTTATCCTTCCGATATTGCCTTTCCCGCTCCTGGCGTCTTCTTTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTGCTCTTCCTCGCGGTATTGTCTCTCCTGTTCTTGGCGCCTTCTCTTCTCGCGCTCCTCTCTCTGTAGCTCCTCCTCCTCCTCCTGCAGCAGCTGCTGTTCCTTCCTCAGCTGCTCTTGTAGGGCTGGCTTGGCGTACAGCGTGTGGCGGCGTCTCTTCCTTTCTTCTTCTAGTTGCCACCTCCATTTTTGGTCGCGGCGCTGCTCCTGGCTTCGCCTCCTCTCCTGATCCTCCTGGAGGCCGTCCTCCTCCTCCTGGAGCTGTTGGGCACGCTCCCGCCGCTGGAGCTGCTCCTCTTCCTCCAGGAACTGCAGCTCTTTCTCCCTCTCGCGTCGCTGGCGGCGCCGCTGCTCCTTCTCCTCCTCCTCCGGGAGAAACCGTTGTTCCCGCTGCTGGCGCTCCTCGGCCCTCAGCTGCCTCTCCCGCTGCTCCCGCAATGGGGGCCTGGCCGACAGCCTCTGACGGCCCCTCTCGCTCTTTTCCTCCGCCTGCCACTGCCATGTGAAGTCCCGGCGCTGCTCCTCTTCCTGCTGCTGCCGGTGAGCCCGTTCCTCCTCCTGCCATTGCAGCTCACTCTCCCGGCGCCGCCTCTTTTCCTCCTGCTCTTGGCGGCGCCTCTGCCCTTCCTGCTTGCGGGGCCTCGAGTAGACTTTGCTTTGCCGTGCGTCGGCCTCGCTTTCTAGCTGCCACTGCCACTTCGGGATGCGGCTCTTAATCCGCTCCCGGGCCTGTTCCTGCTCCTCCTCAGCTAGCTCCTGCTCGCGCCTCTCTTCCTCATGCTCGCGCTTCAGCCGCTGCTCGAGCCTCTCTTCCTCCTCCTCGCGCTTCAGCCGCTGCTCGCGCCTTTCCTGCTGCTCGCGCCTTAGTTGCTGCTGGCGCCTCTCCTCCTGCTCCTCGCTCTTCAGCAGCTGCTGGCGCCTCTCTTCCTCCGGCTCCTCGCGCTTCAGCCGCTGCTCGCGCCTCTCCTCCTGCTCGAGTCTCTCCACCTCCTCGCGCTTCAGTCGCTGCTCGAGCCTCTCTTCCTGCTCGCGCTTCAGCCGCTGCTGGCGCCTCTCCTCCTCGCGCTTCAGCAGCTGATCGCGCCTCTCCTCCTGCTCGCGCTTCAGCCGCTGCTCTCGCCTCTCCTGCTCGAGCCTCTTCTCCTCCTCGCGCTTCAGCAGCTGCTCGCGCCTCTCCTCCTGCTCGCGTCTTAGTTGTTGCTCGCTCCTCAACCGCTGCTGGAGCCTCTCTTCCTCCTCCTGGCGCTTCAGCCGCTGCTCGCGCCTCTCCTCTTGCTCCCGCCTTAGTTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTCCTCCTCGAGCTTCAGCCAACGTTCGCGCCTCTCCTCCTCCTGGTCGCGCTTCAGCTGCTGCTTGCGCCTCTCCTGCTCGTGCCTCTCCGTCTCCTCCTCGCGCTTCAGCCAATCGCGCCTCTCCTCCTGCTCGCGCTTCAGCCGCTGCTCGCGCCTCTCCTGCTCGTGCTTCTGCTCGTGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTCCTCCTGCTTGCGCCTTAGTTGCTGCTCGCGCCTCAGCCTTTGCTGCTGCTGCTCTTCCTCCTGGCGCTCCCTCCTCAGCTCTTGCCGCTCCAGCTTCCGTAGCTGCTCTTCTTCCTCCTGGAGCTCTCTTTGCCGCTGCGGCTCCTCTTCCTGCAACTTCTCTTCTTCCTTCCGGAGCACTGTCTCGCGCTTCCTCCACTCTTTCTCTTCTTCCTCCTGGAACACTCTGTCTTGCCGCTCTCGCCTTTGCTGCTGTTTCTCCTCGCGGCCCTTCCTCCTCAGCTCCAGCAGCTCCCGCCTTCGCAGTTGCTCTTCGTCTGGAAACTCCTCAGTTTCGTGACCTTTGCAACTCTGCAGCTGCTCTTCCTCTGCACGGCGCTCTTCCCGTTCTTGCCATTCTTGCCTTTGCCGCCACAGCTCCTCGTCGCGGCGCTGCCTGTCGCGCTGTTCAAGTCGCTCTTGTTTCTCACTTTGCTCCTCTCCCTCAGCTAGCTCCCTCTCCTGTTCCTGCCTCTTCTGCCTGCGTCGTTGCCCAGGTTCTTCTTCCAGTTGTCTGTCCCGGGGCTCGAATCTCCTTTGGTCTTCTTCTTGCCTGCGATCTTGTAACAGGCTCTCCTTTCCGTCACACCGGGCTCGCTTCTCCTCATCCAGTCCCGTGGCCTGGCCGAGAGCATAGTAACAAGCTTGAGCCACTTTGAAAATAAATAGGAGGAATTCGTTGAAATCGACACGCCCATTACTGTCAAGATCCAGAAGTTCCAGGATCAGATCTACCGTCTTAGGGTCATGTGGTCTCTATAAAAATGGTGAAAACAAAAATTTTACAATGCACTATTTACAGGTGGTAAAATTATATTCACACATGATATATTTTATGCTATGCTGACATTCAAGAGACATTCAGAGCAATTAGAAAAATGTCCAGTGTGTATCAAGTTTTGTCCCCATGTAAAATGTGAACCCTCACTTTAAAGCATATATTCGTTTGAAATTTTTACATCTCGTAATTTAGTGCTGATCAAACCTAAGGAAGCAGGAAGAGAGACACAAAGTAGAATAGCAGGTAAGCCTACGCACCTTAGAGGCAGAGCCTGAGGTGAAGATTCAAAACAGCATCGTGAACTTGTGTGTAAAATTAACAAAGCTACTCAACATCAAGAAAGAATAACACAAGTTCGCTTTAATTGAGAAAGAATGAACTCATCCTTGAGAGAGATACAATAGAAATTTATGAGGATTTGCAGTAGCCATTTCTGTCTGAAGCAGCCAGTATTCTTGATTTGGTTTCTATTCCATATTAGAAAACAGAACAAAACATTTACGGGTAGCACCATTTTAATAGAGATCAGGCTGATCTCAGTTTTGAAATTTGGAAACAAATTTAAGTTCCTCCAAGTCTAGTGTGATTTGACATCTTTTGTGGTAATGTCCCATGAAGAGCTCATTCACATGGCCATGCCATC	TCCTGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCGCGGTATTGCCTCTCCAGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCACCTCCTCTTCCTCCCGATATTGCCTCTCCAGCTCCTGGCGCCTTCTCTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCCCGACATTGCCTCTCCCGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTTCCGATATTGCCTCTCCAGCTCCTGGCGCCTTCTCGTCTCCCGTTCCTCTCCCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCCCGATATTGCCTCTCCCGCTCCTGGAGTCTTCTTTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCTTCCTGCTGCAGCTCGTCTTTTTTGCGGTACTGCCTCTCCCACTCCTGGCGCCTTCTCTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAACTCCTCTTCCTCGCGGTATTTTTTCTCCCGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCCCAGCAGCTGCTCTTCCTTCTGCTGCAGCTTCTTATCCTTCCGATATTGCCTTTCCCGCTCCTGGCGTCTTCTTTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTGCTCTTCCTCGCGGTATTGTCTCTCCTGTTCTTGGCGCCTTCTCTTCTCGCGCTCCTCTCTCTGTAGCTCCTCCTCCTCCTCCTGCAGCAGCTGCTGTTCCTTCCTCAGCTGCTCTTGTAGGGCTGGCTTGGCGTACAGCGTGTGGCGGCGTCTCTTCCTTTCTTCTTCTAGTTGCCACCTCCATTTTTGGTCGCGGCGCTGCTCCTGGCTTCGCCTCCTCTCCTGATCCTCCTGGAGGCCGTCCTCCTCCTCCTGGAGCTGTTGGGCACGCTCCCGCCGCTGGAGCTGCTCCTCTTCCTCCAGGAACTGCAGCTCTTTCTCCCTCTCGCGTCGCTGGCGGCGCCGCTGCTCCTTCTCCTCCTCCTCCGGGAGAAACCGTTGTTCCCGCTGCTGGCGCTCCTCGGCCCTCAGCTGCCTCTCCCGCTGCTCCCGCAATGGGGGCCTGGCCGACAGCCTCTGACGGCCCCTCTCGCTCTTTTCCTCCGCCTGCCACTGCCATGTGAAGTCCCGGCGCTGCTCCTCTTCCTGCTGCTGCCGGTGAGCCCGTTCCTCCTCCTGCCATTGCAGCTCACTCTCCCGGCGCCGCCTCTTTTCCTCCTGCTCTTGGCGGCGCCTCTGCCCTTCCTGCTTGCGGGGCCTCGAGTAGACTTTGCTTTGCCGTGCGTCGGCCTCGCTTTCTAGCTGCCACTGCCACTTCGGGATGCGGCTCTTAATCCGCTCCCGGGCCTGTTCCTGCTCCTCCTCAGCTAGCTCCTGCTCGCGCCTCTCTTCCTCATGCTCGCGCTTCAGCCGCTGCTCGAGCCTCTCTTCCTCCTCCTCGCGCTTCAGCCGCTGCTCGCGCCTTTCCTGCTGCTCGCGCCTTAGTTGCTGCTGGCGCCTCTCCTCCTGCTCCTCGCTCTTCAGCAGCTGCTGGCGCCTCTCTTCCTCCGGCTCCTCGCGCTTCAGCCGCTGCTCGCGCCTCTCCTCCTGCTCGAGTCTCTCCACCTCCTCGCGCTTCAGTCGCTGCTCGAGCCTCTCTTCCTGCTCGCGCTTCAGCCGCTGCTGGCGCCTCTCCTCCTCGCGCTTCAGCAGCTGATCGCGCCTCTCCTCCTGCTCGCGCTTCAGCCGCTGCTCTCGCCTCTCCTGCTCGAGCCTCTTCTCCTCCTCGCGCTTCAGCAGCTGCTCGCGCCTCTCCTCCTGCTCGCGTCTTAGTTGTTGCTCGCTCCTCAACCGCTGCTGGAGCCTCTCTTCCTCCTCCTGGCGCTTCAGCCGCTGCTCGCGCCTCTCCTCTTGCTCCCGCCTTAGTTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTCCTCCTCGAGCTTCAGCCAACGTTCGCGCCTCTCCTCCTCCTGGTCGCGCTTCAGCTGCTGCTTGCGCCTCTCCTGCTCGTGCCTCTCCGTCTCCTCCTCGCGCTTCAGCCAATCGCGCCTCTCCTCCTGCTCGCGCTTCAGCCGCTGCTCGCGCCTCTCCTGCTCGTGCTTCTGCTCGTGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTCCTCCTGCTTGCGCCTTAGTTGCTGCTCGCGCCTCAGCCTTTGCTGCTGCTGCTCTTCCTCCTGGCGCTCCCTCCTCAGCTCTTGCCGCTCCAGCTTCCGTAGCTGCTCTTCTTCCTCCTGGAGCTCTCTTTGCCGCTGCGGCTCCTCTTCCTGCAACTTCTCTTCTTCCTTCCGGAGCACTGTCTCGCGCTTCCTCCACTCTTTCTCTTCTTCCTCCTGGAACACTCTGTCTTGCCGCTCTCGCCTTTGCTGCTGTTTCTCCTCGCGGCCCTTCCTCCTCAGCTCCAGCAGCTCCCGCCTTCGCAGTTGCTCTTCGTCTGGAAACTCCTCAGTTTCGTGACCTTTGCAACTCTGCAGCTGCTCTTCCTCTGCACGGCGCTCTTCCCGTTCTTGCCATTCTTGCCTTTGCCGCCACAGCTCCTCGTCGCGGCGCTGCCTGTCGCGCTGTTCAAGTCGCTCTTGTTTCTCACTTTGCTCCTCTCCCTCAGCTAGCTCCCTCTCCTGTTCCTGCCTCTTCTGCCTGCGTCGTTGCCCAGGTTCTTCTTCCAGTTGTCTGTCCCGGGGCTCGAATCTCCTTTGGTCTTCTTCTTGCCTGCGATCTTGTAACAGGCTCTCCTTTCCGTCACACCGGGCTCGCTTCTCCTCATCCAGTCCCGTGGCCTGGCCGAGAGCATAGTAACAAGCTTGAGCCACTTTGAAAATAAATAGGAGGAATTCGTTGAAATCGACACGCCCATTACTGTCAAGATCCAGAAGTTCCAGGATCAGATCTACCGTCTTAGGGTCATGTGGTCTCTATAAAAATGGTGAAAACAAAAATTTTACAATGCACTATTTACAGGTGGTAAAATTATATTCACACATGATATATTTTATGCTATGCTGACATTCAAGAGACATTCAGAGCAATTAGAAAAATGTCCAGTGTGTATCAAGTTTTGTCCCCATGTAAAATGTGAACCCTCACTTTAAAGCATATATTCGTTTGAAATTTTTACATCTCGTAATTTAGTGCTGATCAAACCTAAGGAAGCAGGAAGAGAGACACAAAGTAGAATAGCAGGTAAGCCTACGCACCTTAGAGGCAGAGCCTGAGGTGAAGATTCAAAACAGCATCGTGAACTTGTGTGTAAAATTAACAAAGCTACTCAACATCAAGAAAGAATAACACAAGTTCGCTTTAATTGAGAAAGAATGAACTCATCCTTGAGAGAGATACAATAGAAATTTATGAGGATTTGCAGTAGCCATTTCTGTCTGAAGCAGCCAGTATTCTTGATTTGGTTTCTATTCCATATTAGAAAACAGAACAAAACATTTACGGGTAGCACCATTTTAATAGAGATCAGGCTGATCTCAGTTTTGAAATTTGGAAACAAATTTAAGTTCCTCCAAGTCTAGTGTGATTTGACATCTTTTGTGGTAATGTCCCATGAAGAGCTCAT	benign	14,707
Variant in TCHH (trichohyalin), chromosome 1, position 152114079—is this benign or pathogenic? If pathogenic, what disease(s) is linked?	benign	TCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTCCTCCTGCTTGCGCCTTAGTTGCTGCTCGCGCCTCAGCCTTTGCTGCTGCTGCTCTTCCTCCTGGCGCTCCCTCCTCAGCTCTTGCCGCTCCAGCTTCCGTAGCTGCTCTTCTTCCTCCTGGAGCTCTCTTTGCCGCTGCGGCTCCTCTTCCTGCAACTTCTCTTCTTCCTTCCGGAGCACTGTCTCGCGCTTCCTCCACTCTTTCTCTTCTTCCTCCTGGAACACTCTGTCTTGCCGCTCTCGCCTTTGCTGCTGTTTCTCCTCGCGGCCCTTCCTCCTCAGCTCCAGCAGCTCCCGCCTTCGCAGTTGCTCTTCGTCTGGAAACTCCTCAGTTTCGTGACCTTTGCAACTCTGCAGCTGCTCTTCCTCTGCACGGCGCTCTTCCCGTTCTTGCCATTCTTGCCTTTGCCGCCACAGCTCCTCGTCGCGGCGCTGCCTGTCGCGCTGTTCAAGTCGCTCTTGTTTCTCACTTTGCTCCTCTCCCTCAGCTAGCTCCCTCTCCTGTTCCTGCCTCTTCTGCCTGCGTCGTTGCCCAGGTTCTTCTTCCAGTTGTCTGTCCCGGGGCTCGAATCTCCTTTGGTCTTCTTCTTGCCTGCGATCTTGTAACAGGCTCTCCTTTCCGTCACACCGGGCTCGCTTCTCCTCATCCAGTCCCGTGGCCTGGCCGAGAGCATAGTAACAAGCTTGAGCCACTTTGAAAATAAATAGGAGGAATTCGTTGAAATCGACACGCCCATTACTGTCAAGATCCAGAAGTTCCAGGATCAGATCTACCGTCTTAGGGTCATGTGGTCTCTATAAAAATGGTGAAAACAAAAATTTTACAATGCACTATTTACAGGTGGTAAAATTATATTCACACATGATATATTTTATGCTATGCTGACATTCAAGAGACATTCAGAGCAATTAGAAAAATGTCCAGTGTGTATCAAGTTTTGTCCCCATGTAAAATGTGAACCCTCACTTTAAAGCATATATTCGTTTGAAATTTTTACATCTCGTAATTTAGTGCTGATCAAACCTAAGGAAGCAGGAAGAGAGACACAAAGTAGAATAGCAGGTAAGCCTACGCACCTTAGAGGCAGAGCCTGAGGTGAAGATTCAAAACAGCATCGTGAACTTGTGTGTAAAATTAACAAAGCTACTCAACATCAAGAAAGAATAACACAAGTTCGCTTTAATTGAGAAAGAATGAACTCATCCTTGAGAGAGATACAATAGAAATTTATGAGGATTTGCAGTAGCCATTTCTGTCTGAAGCAGCCAGTATTCTTGATTTGGTTTCTATTCCATATTAGAAAACAGAACAAAACATTTACGGGTAGCACCATTTTAATAGAGATCAGGCTGATCTCAGTTTTGAAATTTGGAAACAAATTTAAGTTCCTCCAAGTCTAGTGTGATTTGACATCTTTTGTGGTAATGTCCCATGAAGAGCTCATTCACATGGCCATGCCATCAAGTACATGAAATACTTTATTATTCAGACTACAATGTCAAGTAAGTACCTTTTGACTCAGAAATGAATGGGGGATGTAGTGTAGACCTGTTGTGGTGTAAAATGAATATAAAACCACCATTCCTTGCTCTGGTCTCCTCTGAGAATAAATCTCATAGCCTCAAGTCAATAGATCTCATTTTCTTGTTAGTTCTTACCCGAAGCACAGCTCCAAATTCCCTTTCAAGGAGGTTCTTCAGGTCTTTCTTAGTTAATGCTGCTCCATCACAATCATGAGAGACATACTGATTGAAAATTTCAGTGATGTCACAGATGCTTCTCAGAAGTGGAGACATTTTTTTTTCTTTCCTTCAAGTTCAAGTAAACCTAGAACAATAAAATAAGATCCAGAATCAAAATCCCGTTTCTGCTTTTGGGAAGGCTTCATTCACACTATTTCAGGCAGATCCCTAAATAATTTGAATTTATAGCGGTAATTTCAACCTGGACTTTCAGAGCACTTTAATATTTGAATATTGTATCAGAAAGAGAAAGAGCGATCCTGAGAAATTCCAAGCCAGGGAATCATCTTCAGACTATCCTGTTGTCAGCTTTTGATTGTCCACCCAATGTGGATTATCTATGCCCTTTTCTTCTGTCTTTCTTCCAGCTCTCCACCGTATTTCAGAGTAGAAAATTAAGAGAAGAGTGCAGAAATTAAAATTTTATATATGTCTACACACCTTCCTTTAAAGTTGAGCGAAGAGGACAGGTAAAAGCCAAAAGGTGAAGGAAGACTTGAGAGTATCTTAAAGTGGATAGAGGCCATGTCAGCAAAACAGTTGGTAGAAAATAGAACAATGAAAAGGGAATATGAATGATTCCTCAACATTACAGTCCATAAAGGATTTAGGAACTCTTATAGAATATAATTTGTAAGTCAGCAATTCTAAGATTAAATAGTACTTCTTCCTAGTCAAAAGATGGCATTGTAACATTCAGATACACAAATGCAGAAAACAGAGACTGTATATTACCTGCCTCAACTCAGATATAGTAAGATATTCGGATATTGAAGTATTGAAAGCTTCTGAGAGGTCCTTTCTAAACCAAACGGAATCCAGAAAACTGTGAATGATATTGGTTTTGTTAAACCCAAATGCATCATTGGAATCTTGGCTTTTTATAAAACATTAGCCAGCAGTAGATCAATGTTATAAGAATACATGGAATGGCTTTGCTGGTGGGATAAGTGTAGTCGTTCATCTAGCTGACTTCTTTATGTACTTCTCAACTCCAGTACCTTAAATGCTGTGACTGTATGAAGATGGCCCATATTAGGTAGAACCAATGTAAAAGAGAACAGAAGGCTGGCAAACTTTTGAGATAGCAGTTTTTAGGAAGATGAACCCTATCAGAGCCACACATGATCATCCTTGATGTGCAGAAGTATAGAGTTCAGAGCCCAAGGAGAAGGGTCATGCTTCAGTTCAAGTGATGGCTCCAACCATAAGAAGATGGGATAGAGTTAGTGATAGTTTATTTATCCCTGCAAAATACTGATACCTTCTGGCACATGGAACCTCCCCCCATATCCCAACATCTGAAATAGCTATAAAAATGGAGAATCATAAAGAAGACCACGATCCCACAGAATGGGACTTACCCACTTCACCAGAGGAAGAAGTCGACAGTGCTTGCTGACACCACAGGCAAGTGTACTGGGTAACTGGGAGCTGGGCCTTTTATAGGGGTTTTAATTGTGCCCTGGAAAGCAACTTGGGAAGGAGACACCCACTCTGTGGGATGGCCTGATTCATTCCTAACCAAGCCCAGCTCCACCTCTGTCTCCACAAATGGCTTGTTTATCTCACTATTTGCTCACGTAGCTATTTGGCACGAGGTTCACAGACCTTGCCTCCTGACAGTCAGGGTACCAGCCCCACCTAACATGGGAGGGTAGAATATTTGGCAGAATCTCCAATTTTCTTAAATTGTTAAAAGTAAATTAAATAATAAAACAAAGGTATTAAATGTTCACAATCTTAATTGATTATTACTTCATTACAAAGGAGTAAACTCTAAGCCATTTGCTTTATAAAAGATACAATCTCTAGTTTGGGATTAAGCAGAAACTTTGAAATAAAGTGATGAAAACCAATTAATTTCTCCATGGGATGTGACAGTCCATGGTGAGCTGCTCATAAGCCCTGCCAGAAGCAGTTGCTTCAATTCTAGGGCAATGAGAGAGCTGTAAAGAATTGGTTAGTTTCTTCTCTAAAAATGCAGGTGGGAAAAATTTTTACATTTGTCTCCCGGGTCTTATGATGGTTTTCCTACAGATTGGGGACTGCCTCCTCAGTAAAGTTTGGAAGGGTACCTTGGAAATATATTTTTATTAA	TCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTCCTCCTGCTTGCGCCTTAGTTGCTGCTCGCGCCTCAGCCTTTGCTGCTGCTGCTCTTCCTCCTGGCGCTCCCTCCTCAGCTCTTGCCGCTCCAGCTTCCGTAGCTGCTCTTCTTCCTCCTGGAGCTCTCTTTGCCGCTGCGGCTCCTCTTCCTGCAACTTCTCTTCTTCCTTCCGGAGCACTGTCTCGCGCTTCCTCCACTCTTTCTCTTCTTCCTCCTGGAACACTCTGTCTTGCCGCTCTCGCCTTTGCTGCTGTTTCTCCTCGCGGCCCTTCCTCCTCAGCTCCAGCAGCTCCCGCCTTCGCAGTTGCTCTTCGTCTGGAAACTCCTCAGTTTCGTGACCTTTGCAACTCTGCAGCTGCTCTTCCTCTGCACGGCGCTCTTCCCGTTCTTGCCATTCTTGCCTTTGCCGCCACAGCTCCTCGTCGCGGCGCTGCCTGTCGCGCTGTTCAAGTCGCTCTTGTTTCTCACTTTGCTCCTCTCCCTCAGCTAGCTCCCTCTCCTGTTCCTGCCTCTTCTGCCTGCGTCGTTGCCCAGGTTCTTCTTCCAGTTGTCTGTCCCGGGGCTCGAATCTCCTTTGGTCTTCTTCTTGCCTGCGATCTTGTAACAGGCTCTCCTTTCCGTCACACCGGGCTCGCTTCTCCTCATCCAGTCCCGTGGCCTGGCCGAGAGCATAGTAACAAGCTTGAGCCACTTTGAAAATAAATAGGAGGAATTCGTTGAAATCGACACGCCCATTACTGTCAAGATCCAGAAGTTCCAGGATCAGATCTACCGTCTTAGGGTCATGTGGTCTCTATAAAAATGGTGAAAACAAAAATTTTACAATGCACTATTTACAGGTGGTAAAATTATATTCACACATGATATATTTTATGCTATGCTGACATTCAAGAGACATTCAGAGCAATTAGAAAAATGTCCAGTGTGTATCAAGTTTTGTCCCCATGTAAAATGTGAACCCTCACTTTAAAGCATATATTCGTTTGAAATTTTTACATCTCGTAATTTAGTGCTGATCAAACCTAAGGAAGCAGGAAGAGAGACACAAAGTAGAATAGCAGGTAAGCCTACGCACCTTAGAGGCAGAGCCTGAGGTGAAGATTCAAAACAGCATCGTGAACTTGTGTGTAAAATTAACAAAGCTACTCAACATCAAGAAAGAATAACACAAGTTCGCTTTAATTGAGAAAGAATGAACTCATCCTTGAGAGAGATACAATAGAAATTTATGAGGATTTGCAGTAGCCATTTCTGTCTGAAGCAGCCAGTATTCTTGATTTGGTTTCTATTCCATATTAGAAAACAGAACAAAACATTTACGGGTAGCACCATTTTAATAGAGATCAGGCTGATCTCAGTTTTGAAATTTGGAAACAAATTTAAGTTCCTCCAAGTCTAGTGTGATTTGACATCTTTTGTGGTAATGTCCCATGAAGAGCTCATTCACATGGCCATGCCATCAAGTACATGAAATACTTTATTATTCAGACTACAATGTCAAGTAAGTACCTTTTGACTCAGAAATGAATGGGGGATGTAGTGTAGACCTGTTGTGGTGTAAAATGAATATAAAACCACCATTCCTTGCTCTGGTCTCCTCTGAGAATAAATCTCATAGCCTCAAGTCAATAGATCTCATTTTCTTGTTAGTTCTTACCCGAAGCACAGCTCCAAATTCCCTTTCAAGGAGGTTCTTCAGGTCTTTCTTAGTTAATGCTGCTCCATCACAATCATGAGAGACATACTGATTGAAAATTTCAGTGATGTCACAGATGCTTCTCAGAAGTGGAGACATTTTTTTTCTTTCCTTCAAGTTCAAGTAAACCTAGAACAATAAAATAAGATCCAGAATCAAAATCCCGTTTCTGCTTTTGGGAAGGCTTCATTCACACTATTTCAGGCAGATCCCTAAATAATTTGAATTTATAGCGGTAATTTCAACCTGGACTTTCAGAGCACTTTAATATTTGAATATTGTATCAGAAAGAGAAAGAGCGATCCTGAGAAATTCCAAGCCAGGGAATCATCTTCAGACTATCCTGTTGTCAGCTTTTGATTGTCCACCCAATGTGGATTATCTATGCCCTTTTCTTCTGTCTTTCTTCCAGCTCTCCACCGTATTTCAGAGTAGAAAATTAAGAGAAGAGTGCAGAAATTAAAATTTTATATATGTCTACACACCTTCCTTTAAAGTTGAGCGAAGAGGACAGGTAAAAGCCAAAAGGTGAAGGAAGACTTGAGAGTATCTTAAAGTGGATAGAGGCCATGTCAGCAAAACAGTTGGTAGAAAATAGAACAATGAAAAGGGAATATGAATGATTCCTCAACATTACAGTCCATAAAGGATTTAGGAACTCTTATAGAATATAATTTGTAAGTCAGCAATTCTAAGATTAAATAGTACTTCTTCCTAGTCAAAAGATGGCATTGTAACATTCAGATACACAAATGCAGAAAACAGAGACTGTATATTACCTGCCTCAACTCAGATATAGTAAGATATTCGGATATTGAAGTATTGAAAGCTTCTGAGAGGTCCTTTCTAAACCAAACGGAATCCAGAAAACTGTGAATGATATTGGTTTTGTTAAACCCAAATGCATCATTGGAATCTTGGCTTTTTATAAAACATTAGCCAGCAGTAGATCAATGTTATAAGAATACATGGAATGGCTTTGCTGGTGGGATAAGTGTAGTCGTTCATCTAGCTGACTTCTTTATGTACTTCTCAACTCCAGTACCTTAAATGCTGTGACTGTATGAAGATGGCCCATATTAGGTAGAACCAATGTAAAAGAGAACAGAAGGCTGGCAAACTTTTGAGATAGCAGTTTTTAGGAAGATGAACCCTATCAGAGCCACACATGATCATCCTTGATGTGCAGAAGTATAGAGTTCAGAGCCCAAGGAGAAGGGTCATGCTTCAGTTCAAGTGATGGCTCCAACCATAAGAAGATGGGATAGAGTTAGTGATAGTTTATTTATCCCTGCAAAATACTGATACCTTCTGGCACATGGAACCTCCCCCCATATCCCAACATCTGAAATAGCTATAAAAATGGAGAATCATAAAGAAGACCACGATCCCACAGAATGGGACTTACCCACTTCACCAGAGGAAGAAGTCGACAGTGCTTGCTGACACCACAGGCAAGTGTACTGGGTAACTGGGAGCTGGGCCTTTTATAGGGGTTTTAATTGTGCCCTGGAAAGCAACTTGGGAAGGAGACACCCACTCTGTGGGATGGCCTGATTCATTCCTAACCAAGCCCAGCTCCACCTCTGTCTCCACAAATGGCTTGTTTATCTCACTATTTGCTCACGTAGCTATTTGGCACGAGGTTCACAGACCTTGCCTCCTGACAGTCAGGGTACCAGCCCCACCTAACATGGGAGGGTAGAATATTTGGCAGAATCTCCAATTTTCTTAAATTGTTAAAAGTAAATTAAATAATAAAACAAAGGTATTAAATGTTCACAATCTTAATTGATTATTACTTCATTACAAAGGAGTAAACTCTAAGCCATTTGCTTTATAAAAGATACAATCTCTAGTTTGGGATTAAGCAGAAACTTTGAAATAAAGTGATGAAAACCAATTAATTTCTCCATGGGATGTGACAGTCCATGGTGAGCTGCTCATAAGCCCTGCCAGAAGCAGTTGCTTCAATTCTAGGGCAATGAGAGAGCTGTAAAGAATTGGTTAGTTTCTTCTCTAAAAATGCAGGTGGGAAAAATTTTTACATTTGTCTCCCGGGTCTTATGATGGTTTTCCTACAGATTGGGGACTGCCTCCTCAGTAAAGTTTGGAAGGGTACCTTGGAAATATATTTTTATTAAN	benign	14,709

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