ID
stringlengths 13
17
| question
stringlengths 88
1.13k
| answer
stringlengths 6
156
| reference_sequence
stringlengths 4.1k
4.1k
| variant_sequence
stringlengths 4.1k
4.1k
|
|---|---|---|---|---|
Task1_train_11200
|
The gene PSPH (phosphoserine phosphatase) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Deficiency of phosphoserine phosphatase
|
GACCCCAGGAGTTCAACGCTGTAGTAAGCCATGATTATACTACTGTACTCCAACATGGGCAACAGAATGAGACGCTGACTCTAAAAAAAATAATAATAGGCCGGGTGCAGTGGCTCACAGCTATAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCATTTGAGGTCAAGAGTTCAAGCAGTGTGGTCAACATGGCGAAACCCATCTCTACTAAAAATACAAAAATTACCTAGGTGTGCTGGTGGGCACCTGTAATCCCATCTACTCGGGAGGCTGAGGCAGGAGAATTGCATGAACTTGGGAGGCAGAAGCTGCAGTGAGCTGACATTTCACCACTGCACTCCAGCCTGAGTGACAGAGTGAGACTTCATCTCGAAAAAATACAATTTAAAAAAATAATTAAAAAATTAAAAAATGAAAATGAAAATAAATAAACCACCCAGAGGGCACTCTAAAGGAATAGTTAGATGCTCTTGGGAGGATGTGCCCCCCAACACTGGTGCTGAAATACACCTGGAGCCGGGGTTCCTCTTACCTTATGCCGGGGGTCAGGTGTGGGGGTTGCTCTGCTATGAGTCTCTGCACCTGCTCCCTGGAGGGCTGGATGAGGGCTAAGCGCTCTGTGAGAGCAGCTTTGAAAGGCACTGCCCCGCCCATGGCTCGCCGTGTCCTAGGAGGGAGACCCAACAGTCAGGCCAGCCAGGTCCGATGTCCTCAAGGTTAACATGCCTTACTGCCCCGGGTCTGCACGACATCCACCAAAAGGAAGATGCTACCAAGAGCCCAGTGTGCAACAGACAGGCTTTGCTACTAGGAGAGCAAGGCCTTGGAATAAACTTTTGAAGGATTGCTTGAAAATAACATTAACAGGCTGGGTGCAGTGACTCATGCCCATAATCCCAAACACTTTGGGAAGCTGAGGTGGGCAGATCACCTGAAGCCAGGAGTCTGAGACCAGCCTGGTCAACATGACAAAACCCCATCTTTACTAAAAAAATGCAAAAATTAGCCAGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATTGCTGGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCTCACCACTGCACCCCAGCCTGGATGACAGAGTTAAGATTCCATCTAAAAAAAAAAAAAGGCACACAGCCTATCCATAGGTATTTTTCTTGCAAGCTGTGAGCTGTCATAAATCAAGAAAGAGACCAAAGGTTAAGCATTCTTCCATGAAAGGCAGTTGAAAATGAAATAGTGTCCGGGTGCAGCAGCTCATGCCTGTAATCCCAGCACTTTGGTAGCCCAAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACTACCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAAAAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGGTCACTGCACTCCAGCCTGGGTGACAAAATGAGACTCCGTCTCGAAAAAAAAAAAAAGAAAATGACATGGTGCATGACTGGGGGACTGGGACTGCAGAGGGAGGTCCCCAGCTGCAGGGCGGGAGGGCAGGAGGGAGAGAGGGGATCTGACCCAGGATCCACCAAGAGACTCTGAACCTTTCCAGGGAACCACTAAGGTCACACTTTCAACCATGACACAAAGCCACTGGACACTTGGACCTCGCCCCCCAGGCCATCTTCTTTAGTTAGTGACGGTTGTCATTCCCCGATCAAGCTAAGAACATGTCTTATCCATGTTTGTTTGCCATAAATATTTATATAAATGAATGAATATGTCAAATTCAGCTCTAAGGAATGAAAGAAAAAGCCTAGTGCAAATGTTCCATAGCCAGGGTCTAGCACTTCATCCAAAACAGTCACTCTTTAGAAAGTCTTTATCATTTCATAAAGTGAATAAATGCTATCCCTACATTTCTGACACCGCGTCCTCAACGCCACAGATTTTGGCTAGCTCATCGATTCCTTCTTCTCTGATGACCGTGCTGTCAACATCAAAACACACAGCATCTGCTGAGTAGAAAAGCTTCCTCAGCTCTGAGTGGGAGACCATCGCTGGAAGAATTTTCCTCCTACAAGAAAAAAGATAAATGTATTTAAAGACATCAAATAAAATTATGAAAAGATCCCACCTTGCCTACTAAGCCAATCTAATTTGTGTCAAAGTCAGTGCAGGCCACATAAGAGTGTTCTCACAGATTCATTTTTTTTTCCTTTTCTTTTTGTTTACTTCCCACACTACACCAGTTTCTTCTTTCTTTCTTTCTTTTTTTTTTTTAGGTGGAGTCTTACTCTGTTGCCCAGGCTGGAGGGCAGTGGTACGATCTTGGCTTACTGCAACCTCCACCACTCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTCAAATACCTGTGCCTCCTTGAAGCCATCTTTCTTTTCTTTTAGATATATATATAGTTGTTTTTTTTTTTTCTACCTAATTGTAGTGAGGAAGCAAGCATTAAAGCGGAGGTGTGAGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCAGGACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCCGAGAACATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATATAAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCACCCACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCGGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGAGGTGTGCATAAGGCTCTGTGGGAACACAGGAAAAATGTTTAGCCTTATCTATGAAACAGGGCTTCAGACTGGGCACAGTGGCTCATCCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCAGGAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGCGTGGGCAACATAGAGAGACCAAGTCTCTACTAAAAATAATAATACAAAAAATTAGCTGAGCATAGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGACTGAAGCAGGAGAATTACTTGAACCCAGGAGGTAGAGCTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGACTCTAACTAAAAGAAAAAAAAAGAAGGCTTCAAGGAGGCACAAGTATTTGAGCTGAATCTGACAGGTAAGTGGCCCTCTGAGTGGGTTGTCAAAGGGCAGGGCATCGATTTGGCATGTGCTGGGAGGAGAGGGAGCGGGGGTGGAGACAAGGAGGGAGGCTTGTGATGGCAGAGCGAGGAGTGTGAGCAAAGACAAGGAGAAGGAAGCAGATGACCTGCTGGAAGCTACCCTATGGCTTGGCCCAGGGGCCTGGCTGTGCATCAGGAATTCACACTAAGCAGGTCCTAGGGCCAGGCTAAGGAGTTTAGACTTTAACTTCCAGATACTGGGAAAGGCTTTAAGCCTCAGAAAAAAGGTCAGAGCTAAATATGAGGGCTAAACATACACAATGTCGCCAATGTACAGGGGCTAGTTGAAGACATGGTCTGATTAAAGTCCAGGAAGAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCGGGAGCATCACTTGAAGCCAGGAGTTCAAGACCATCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAAACTAAAAATTAGCCGGGCAGGATGGCGTGCACCTGTAGTCCCAGCTTCTCAGAAGGCTGAGGCAGGAGACTCTCTTGAACCTGGGAGGCGGAGATTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCATGGGGCCACAGAATGAGACCCTGTCTGAAGAAAAGAAAAAATCATAAAAATAAAGTCCAGGGAGAATAGAGAGAGGGAGAAGAAAAGAGTGCTAAGGACAGAGCCTGCAGGACCACCACCTTTAT
|
GACCCCAGGAGTTCAACGCTGTAGTAAGCCATGATTATACTACTGTACTCCAACATGGGCAACAGAATGAGACGCTGACTCTAAAAAAAATAATAATAGGCCGGGTGCAGTGGCTCACAGCTATAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCATTTGAGGTCAAGAGTTCAAGCAGTGTGGTCAACATGGCGAAACCCATCTCTACTAAAAATACAAAAATTACCTAGGTGTGCTGGTGGGCACCTGTAATCCCATCTACTCGGGAGGCTGAGGCAGGAGAATTGCATGAACTTGGGAGGCAGAAGCTGCAGTGAGCTGACATTTCACCACTGCACTCCAGCCTGAGTGACAGAGTGAGACTTCATCTCGAAAAAATACAATTTAAAAAAATAATTAAAAAATTAAAAAATGAAAATGAAAATAAATAAACCACCCAGAGGGCACTCTAAAGGAATAGTTAGATGCTCTTGGGAGGATGTGCCCCCCAACACTGGTGCTGAAATACACCTGGAGCCGGGGTTCCTCTTACCTTATGCCGGGGGTCAGGTGTGGGGGTTGCTCTGCTATGAGTCTCTGCACCTGCTCCCTGGAGGGCTGGATGAGGGCTAAGCGCTCTGTGAGAGCAGCTTTGAAAGGCACTGCCCCGCCCATGGCTCGCCGTGTCCTAGGAGGGAGACCCAACAGTCAGGCCAGCCAGGTCCGATGTCCTCAAGGTTAACATGCCTTACTGCCCCGGGTCTGCACGACATCCACCAAAAGGAAGATGCTACCAAGAGCCCAGTGTGCAACAGACAGGCTTTGCTACTAGGAGAGCAAGGCCTTGGAATAAACTTTTGAAGGATTGCTTGAAAATAACATTAACAGGCTGGGTGCAGTGACTCATGCCCATAATCCCAAACACTTTGGGAAGCTGAGGTGGGCAGATCACCTGAAGCCAGGAGTCTGAGACCAGCCTGGTCAACATGACAAAACCCCATCTTTACTAAAAAAATGCAAAAATTAGCCAGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATTGCTGGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCTCACCACTGCACCCCAGCCTGGATGACAGAGTTAAGATTCCATCTAAAAAAAAAAAAAGGCACACAGCCTATCCATAGGTATTTTTCTTGCAAGCTGTGAGCTGTCATAAATCAAGAAAGAGACCAAAGGTTAAGCATTCTTCCATGAAAGGCAGTTGAAAATGAAATAGTGTCCGGGTGCAGCAGCTCATGCCTGTAATCCCAGCACTTTGGTAGCCCAAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACTACCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAAAAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGGTCACTGCACTCCAGCCTGGGTGACAAAATGAGACTCCGTCTCGAAAAAAAAAAAAAGAAAATGACATGGTGCATGACTGGGGGACTGGGACTGCAGAGGGAGGTCCCCAGCTGCAGGGCGGGAGGGCAGGAGGGAGAGAGGGGATCTGACCCAGGATCCACCAAGAGACTCTGAACCTTTCCAGGGAACCACTAAGGTCACACTTTCAACCATGACACAAAGCCACTGGACACTTGGACCTCGCCCCCCAGGCCATCTTCTTTAGTTAGTGACGGTTGTCATTCCCCGATCAAGCTAAGAACATGTCTTATCCATGTTTGTTTGCCATAAATATTTATATAAATGAATGAATATGTCAAATTCAGCTCTAAGGAATGAAAGAAAAAGCCTAGTGCAAATGTTCCATAGCCAGGGTCTAGCACTTCATCCAAAACAGTCACTCTTTAGAAAGTCTTTATCATTTCATAAAGTGAATAAATGCTATCCCTACATTTCTGACACCGCGTCCTCAACGCCACAGATTTTGGTTAGCTCATCGATTCCTTCTTCTCTGATGACCGTGCTGTCAACATCAAAACACACAGCATCTGCTGAGTAGAAAAGCTTCCTCAGCTCTGAGTGGGAGACCATCGCTGGAAGAATTTTCCTCCTACAAGAAAAAAGATAAATGTATTTAAAGACATCAAATAAAATTATGAAAAGATCCCACCTTGCCTACTAAGCCAATCTAATTTGTGTCAAAGTCAGTGCAGGCCACATAAGAGTGTTCTCACAGATTCATTTTTTTTTCCTTTTCTTTTTGTTTACTTCCCACACTACACCAGTTTCTTCTTTCTTTCTTTCTTTTTTTTTTTTAGGTGGAGTCTTACTCTGTTGCCCAGGCTGGAGGGCAGTGGTACGATCTTGGCTTACTGCAACCTCCACCACTCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTCAAATACCTGTGCCTCCTTGAAGCCATCTTTCTTTTCTTTTAGATATATATATAGTTGTTTTTTTTTTTTCTACCTAATTGTAGTGAGGAAGCAAGCATTAAAGCGGAGGTGTGAGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCAGGACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCCGAGAACATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATATAAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCACCCACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCGGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGAGGTGTGCATAAGGCTCTGTGGGAACACAGGAAAAATGTTTAGCCTTATCTATGAAACAGGGCTTCAGACTGGGCACAGTGGCTCATCCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCAGGAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGCGTGGGCAACATAGAGAGACCAAGTCTCTACTAAAAATAATAATACAAAAAATTAGCTGAGCATAGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGACTGAAGCAGGAGAATTACTTGAACCCAGGAGGTAGAGCTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGACTCTAACTAAAAGAAAAAAAAAGAAGGCTTCAAGGAGGCACAAGTATTTGAGCTGAATCTGACAGGTAAGTGGCCCTCTGAGTGGGTTGTCAAAGGGCAGGGCATCGATTTGGCATGTGCTGGGAGGAGAGGGAGCGGGGGTGGAGACAAGGAGGGAGGCTTGTGATGGCAGAGCGAGGAGTGTGAGCAAAGACAAGGAGAAGGAAGCAGATGACCTGCTGGAAGCTACCCTATGGCTTGGCCCAGGGGCCTGGCTGTGCATCAGGAATTCACACTAAGCAGGTCCTAGGGCCAGGCTAAGGAGTTTAGACTTTAACTTCCAGATACTGGGAAAGGCTTTAAGCCTCAGAAAAAAGGTCAGAGCTAAATATGAGGGCTAAACATACACAATGTCGCCAATGTACAGGGGCTAGTTGAAGACATGGTCTGATTAAAGTCCAGGAAGAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCGGGAGCATCACTTGAAGCCAGGAGTTCAAGACCATCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAAACTAAAAATTAGCCGGGCAGGATGGCGTGCACCTGTAGTCCCAGCTTCTCAGAAGGCTGAGGCAGGAGACTCTCTTGAACCTGGGAGGCGGAGATTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCATGGGGCCACAGAATGAGACCCTGTCTGAAGAAAAGAAAAAATCATAAAAATAAAGTCCAGGGAGAATAGAGAGAGGGAGAAGAAAAGAGTGCTAAGGACAGAGCCTGCAGGACCACCACCTTTAT
|
Task1_train_11201
|
A variant was discovered on Chromosome 7, affecting CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; not provided
|
AGCCTGAGTGTTTTAGGAAGAGGAGGCTACAACACCTTAAACAGAGCAAAAGCACCTTCAGGGGAACTGCATATATTAAGAATGGTTTTTTATCTTCAATCAGGGGCGTCCAAGGGAGAGAATGCAGTCATGGGTTTAGTTACAGTTTATGGTTAGGCCAGTAAAACCCCTTCCTCATCGCTCTTTTCCACTTATCACTAGAGACAAACTATAACTCCAGGCTGCTAAAAGCCTAAAGCAAAAGAAAACAGAACAAAAGGTGGGTTGCACAAGCTTGCTTGGAAACAGTAGAGGAATAGTGATACGCAGTGCTGACCTAGCCACAGGGAACCCACCCCAAATAGACCTATTCCTGTTTCCTTTATCATTCACCTGATTAAAACAATGTATTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCAGTGAGTGCAGTGGCATGGTCTCAGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGCACATGCCAGCACGCACAGCTTTAAACAATATTTTAAGCAGAGTTTCCTGCTACTGCTCAGCTTACATAACTCCAGACCCACAGCAGCTAGAACCTTTGAATTGAGCAGCATGTTATGTTTGCAAGTGAGCTACTCCTTATATAACCCCTCAGGGAGCTGTCAGATCTGGGAGGATGCTAATTTCATAACCAGAGACTATAGACTAAATGAACCATACCTTGGAAGAAAATGACTTTATTCTAATTAACTCACAAAGAATAAAATCATAACATAACAGCTAGTTTAAGGAGGCCACACAAACATTTGCCCAGTCCCAGATTCTACAGAGTAGGGACACCCCCACTTCCATTTCAATTCTGAAGCAAGGAAGCCAGGAATGACAGGAGAGGTTTAACTGATGGTTACACTTTATACCCTCACTATCAATTCTATTTTTATACTAAATTAACTTAGTTATGAGAGCTGATTTTCCATCTCTCCAGGTTGAACTTCTTCATTAGGCCAATCCTGCAAACAGAAAAGATTAAGTTAGAAGAATGCTAGCTTCGTATACTCAATAAAACAGAAGCCTTCCAAATTATGAAAGCAGCGACAAAAGGCCAAGGCTATGGGTTTTTTGTTTTTTGTTTTTTTTTGATAAAAAATAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAATCCTCCCACCTTGGCCTTCCAGAGTGCTGGGTTCCAGGAAGGTTATGGTTTTGTTTGTAAGCTACTGAAGGCATCCTACAACTAACAAGACACCCTGAATCTCCGGAGTTCCCCTGAGGAACTTAATTAACTCCTTTCACTCAATGAGGTACAGATACCAGGTATCAGTCTTTTTGTCTATTCCTGGATTTTGGTGAAAACAGAATCTAATCTTATATTCGCAGCCTTAAGGTTAGAAGGTCACTTACATCCAGTAATCACAGTAAGATCTGGCATACTGATTTATACCTTCTTTTTTTTTTTTTTCTTTTAAATTTGAGACAGTGTCTCCCACTGGAGACACCCAGTTGCCCAGGCTGGAATGCAGTGGCAGGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTACAGATGGGGTTTTGCCATGTTGGCCAGGCTGGCCTCAAACTCCTGACATCAGGTGATCCACCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCTGGCCTATACCTTCTAAAGGAAGAAAATTCAGAAAATTACTCATAAAAATGACTAGAAACCTCCGGCCCAGTTGTTAGGAGTTAATTCTAGAGAAATTTCAACAAAGTCTTCTCTAATTTATTAAACACAGATTACCCTAAGTTCTACAGGATCCAGGAATTCCACTGTGAATTAAGCAGATGTAAATTGGACAAATTACCTACCGTTTGCAAGTCGGCACTGTTTCAGCACCTCATTGAAACCCTCACAGAGCTTGATGTCACCCTGGTTCTGGGCACACTCCAGAAACTGTTTGATCTCATAGAGGCAAGGCTGCTGCTGCTGTGCTGGCTGGGTTCCCTGAGGCTCCTGCAAAGGCAAAACATTCAACATTGCTGAGAAAGAAAATCATACTTATGCCTAGACAATGAAGAGTATCCATCCTCTTTGAGGTTAATGGAAAATGGAACTAGCACCAGATGCTAATTAAAGTTTCCAACTATTAACATGGGAAGTGAAAACATTTAAATCTTCATTTACTTAAAAAATATTTTAGGCCAAACATGGTGGCTCACGCCTGTAATTCCAACACTTTGGGAAGCCGAGAAGGGTGAATCACTTGAGGTCAGGCGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCCCTACTAAAAATACAAAAATTAGCCAGGCGTGGTAGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGCGGTGGAGCCTGGATAACAGAGCGAGACTCCACCTCCAAAAAAGAAGAATTTAAATAAATATTTTTAGTAAAGACAGGGTTGCGCTATGTTGCCCAGCCTGGTCTCAAACTTCTGGGTTCAAGCAATCCCTTCACTTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCTCCGTTCCCAGCCAAAAGTGAAAATATTTAAAAGCTGAAAGCCAACAGTTTTAACAAAATTCCAATTACAACCAGAAAGATTCCTAAATAAAGATGCAAATAAAGTGGAATTATTATCTTGTTATCAAGACTAAATGGTTTACTGAAGCTTCAGGGAGGAAAAATGGTACTATTATAGAAAACTGGATGGAGCAGTTTCAAGCACACCGGAAATACAAGAGTATACACACCTATGCTCATTAGACTAGAAAGCCCACACACATCAGAAAGATGGGTAATGGCAAACATCACGTAAAAGAACACACAGCTATGCGAGATTTTTGATTTGTTAACTAAGATCAAGACAAGATTAGTAGGAAGTGTCACTGGGATGAAATATTCAAAGGGAAAAGTGGTTGTTTTACAGTGAGTCAAGTGGACTGTTGTAAGTCTCCTCCTTGGGAAGAAACACAATTTGTACAGTACTTGTTGGTGCTGGCCTAAGGCAGTAACTCAACGGCCAAATGTGGCTTTAAAACCCATTGTCTATTAACAGCACAGTGGGTTCTAAAATCAAAGACAATTCCTACACTTAAGGAACTTACAAACGTCTGGCTTTTCTCATAAAATCCACCCATGGAAGGGAAATGCTGCCTAAATTCCCACCTGGTAAGTGATGTCAGGCCTCGCAGGCTCAGCATTACTTCCTCCACTGAAGCCCCCAGTAATGGCGTGACCCAATGTGTGCCCCACAGCAGAGCCCACAGCCACGCCAGCTGCAGTGGTTGCCATCTGGGCCATCAGACCTGGCTGCCGGGGCGCAGCAGCAGAAGAGCCAACTGCAGATGGGGGTGCCGCTGCTGGTGGCTGAGCGACTGGTGCTGGCCTGGGTGCAGCTCTCATCTGAGGGGCCCGGCTGTGAAAGAAAAGAAAAAAACATCAAGTTCCCAATTCCAACCAGTTTTGGAAATTGTCAACTTAAAATAACTTACATATTAAAATGGACCTCAAGATTTTCATTTCAAATTATTTACATCATTTTCTCTCTTCAATTTTTTTTTTTTTGAGATGGAGCTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCCAGACTCAAGCGATTCTCTTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACCCGCGACCACCTCCGGCTAATTTTTTGTATTTTTAGTTGAGACGAGGTTTCACTATGGTGACCATGGCTGGTCTCCAGCTCCTGACCTCAGGTGATCCACCCGCCTCGGACTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCACGCACGGCCTAATTTTTTTTTTTTT
|
AGCCTGAGTGTTTTAGGAAGAGGAGGCTACAACACCTTAAACAGAGCAAAAGCACCTTCAGGGGAACTGCATATATTAAGAATGGTTTTTTATCTTCAATCAGGGGCGTCCAAGGGAGAGAATGCAGTCATGGGTTTAGTTACAGTTTATGGTTAGGCCAGTAAAACCCCTTCCTCATCGCTCTTTTCCACTTATCACTAGAGACAAACTATAACTCCAGGCTGCTAAAAGCCTAAAGCAAAAGAAAACAGAACAAAAGGTGGGTTGCACAAGCTTGCTTGGAAACAGTAGAGGAATAGTGATACGCAGTGCTGACCTAGCCACAGGGAACCCACCCCAAATAGACCTATTCCTGTTTCCTTTATCATTCACCTGATTAAAACAATGTATTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCAGTGAGTGCAGTGGCATGGTCTCAGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGCACATGCCAGCACGCACAGCTTTAAACAATATTTTAAGCAGAGTTTCCTGCTACTGCTCAGCTTACATAACTCCAGACCCACAGCAGCTAGAACCTTTGAATTGAGCAGCATGTTATGTTTGCAAGTGAGCTACTCCTTATATAACCCCTCAGGGAGCTGTCAGATCTGGGAGGATGCTAATTTCATAACCAGAGACTATAGACTAAATGAACCATACCTTGGAAGAAAATGACTTTATTCTAATTAACTCACAAAGAATAAAATCATAACATAACAGCTAGTTTAAGGAGGCCACACAAACATTTGCCCAGTCCCAGATTCTACAGAGTAGGGACACCCCCACTTCCATTTCAATTCTGAAGCAAGGAAGCCAGGAATGACAGGAGAGGTTTAACTGATGGTTACACTTTATACCCTCACTATCAATTCTATTTTTATACTAAATTAACTTAGTTATGAGAGCTGATTTTCCATCTCTCCAGGTTGAACTTCTTCATTAGGCCAATCCTGCAAACAGAAAAGATTAAGTTAGAAGAATGCTAGCTTCGTATACTCAATAAAACAGAAGCCTTCCAAATTATGAAAGCAGCGACAAAAGGCCAAGGCTATGGGTTTTTTGTTTTTTGTTTTTTTTTGATAAAAAATAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAATCCTCCCACCTTGGCCTTCCAGAGTGCTGGGTTCCAGGAAGGTTATGGTTTTGTTTGTAAGCTACTGAAGGCATCCTACAACTAACAAGACACCCTGAATCTCCGGAGTTCCCCTGAGGAACTTAATTAACTCCTTTCACTCAATGAGGTACAGATACCAGGTATCAGTCTTTTTGTCTATTCCTGGATTTTGGTGAAAACAGAATCTAATCTTATATTCGCAGCCTTAAGGTTAGAAGGTCACTTACATCCAGTAATCACAGTAAGATCTGGCATACTGATTTATACCTTCTTTTTTTTTTTTTTCTTTTAAATTTGAGACAGTGTCTCCCACTGGAGACACCCAGTTGCCCAGGCTGGAATGCAGTGGCAGGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTACAGATGGGGTTTTGCCATGTTGGCCAGGCTGGCCTCAAACTCCTGACATCAGGTGATCCACCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCTGGCCTATACCTTCTAAAGGAAGAAAATTCAGAAAATTACTCATAAAAATGACTAGAAACCTCCGGCCCAGTTGTTAGGAGTTAATTCTAGAGAAATTTCAACAAAGTCTTCTCTAATTTATTAAACACAGATTACCCTAAGTTCTACAGGATCCAGGAATTCCACTGTGAATTAAGCAGATGTAAATTGGACAAATTACCTACCGTTTGCAAGTTGGCACTGTTTCAGCACCTCATTGAAACCCTCACAGAGCTTGATGTCACCCTGGTTCTGGGCACACTCCAGAAACTGTTTGATCTCATAGAGGCAAGGCTGCTGCTGCTGTGCTGGCTGGGTTCCCTGAGGCTCCTGCAAAGGCAAAACATTCAACATTGCTGAGAAAGAAAATCATACTTATGCCTAGACAATGAAGAGTATCCATCCTCTTTGAGGTTAATGGAAAATGGAACTAGCACCAGATGCTAATTAAAGTTTCCAACTATTAACATGGGAAGTGAAAACATTTAAATCTTCATTTACTTAAAAAATATTTTAGGCCAAACATGGTGGCTCACGCCTGTAATTCCAACACTTTGGGAAGCCGAGAAGGGTGAATCACTTGAGGTCAGGCGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCCCTACTAAAAATACAAAAATTAGCCAGGCGTGGTAGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGCGGTGGAGCCTGGATAACAGAGCGAGACTCCACCTCCAAAAAAGAAGAATTTAAATAAATATTTTTAGTAAAGACAGGGTTGCGCTATGTTGCCCAGCCTGGTCTCAAACTTCTGGGTTCAAGCAATCCCTTCACTTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCTCCGTTCCCAGCCAAAAGTGAAAATATTTAAAAGCTGAAAGCCAACAGTTTTAACAAAATTCCAATTACAACCAGAAAGATTCCTAAATAAAGATGCAAATAAAGTGGAATTATTATCTTGTTATCAAGACTAAATGGTTTACTGAAGCTTCAGGGAGGAAAAATGGTACTATTATAGAAAACTGGATGGAGCAGTTTCAAGCACACCGGAAATACAAGAGTATACACACCTATGCTCATTAGACTAGAAAGCCCACACACATCAGAAAGATGGGTAATGGCAAACATCACGTAAAAGAACACACAGCTATGCGAGATTTTTGATTTGTTAACTAAGATCAAGACAAGATTAGTAGGAAGTGTCACTGGGATGAAATATTCAAAGGGAAAAGTGGTTGTTTTACAGTGAGTCAAGTGGACTGTTGTAAGTCTCCTCCTTGGGAAGAAACACAATTTGTACAGTACTTGTTGGTGCTGGCCTAAGGCAGTAACTCAACGGCCAAATGTGGCTTTAAAACCCATTGTCTATTAACAGCACAGTGGGTTCTAAAATCAAAGACAATTCCTACACTTAAGGAACTTACAAACGTCTGGCTTTTCTCATAAAATCCACCCATGGAAGGGAAATGCTGCCTAAATTCCCACCTGGTAAGTGATGTCAGGCCTCGCAGGCTCAGCATTACTTCCTCCACTGAAGCCCCCAGTAATGGCGTGACCCAATGTGTGCCCCACAGCAGAGCCCACAGCCACGCCAGCTGCAGTGGTTGCCATCTGGGCCATCAGACCTGGCTGCCGGGGCGCAGCAGCAGAAGAGCCAACTGCAGATGGGGGTGCCGCTGCTGGTGGCTGAGCGACTGGTGCTGGCCTGGGTGCAGCTCTCATCTGAGGGGCCCGGCTGTGAAAGAAAAGAAAAAAACATCAAGTTCCCAATTCCAACCAGTTTTGGAAATTGTCAACTTAAAATAACTTACATATTAAAATGGACCTCAAGATTTTCATTTCAAATTATTTACATCATTTTCTCTCTTCAATTTTTTTTTTTTTGAGATGGAGCTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCCAGACTCAAGCGATTCTCTTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACCCGCGACCACCTCCGGCTAATTTTTTGTATTTTTAGTTGAGACGAGGTTTCACTATGGTGACCATGGCTGGTCTCCAGCTCCTGACCTCAGGTGATCCACCCGCCTCGGACTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCACGCACGGCCTAATTTTTTTTTTTTT
|
Task1_train_11202
|
Consider this mutation in CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2) on Chromosome 7. Is this a benign change or a disease-causing variant?
|
Pathogenic; not provided
|
GTCACTTACATCCAGTAATCACAGTAAGATCTGGCATACTGATTTATACCTTCTTTTTTTTTTTTTTCTTTTAAATTTGAGACAGTGTCTCCCACTGGAGACACCCAGTTGCCCAGGCTGGAATGCAGTGGCAGGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTACAGATGGGGTTTTGCCATGTTGGCCAGGCTGGCCTCAAACTCCTGACATCAGGTGATCCACCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCTGGCCTATACCTTCTAAAGGAAGAAAATTCAGAAAATTACTCATAAAAATGACTAGAAACCTCCGGCCCAGTTGTTAGGAGTTAATTCTAGAGAAATTTCAACAAAGTCTTCTCTAATTTATTAAACACAGATTACCCTAAGTTCTACAGGATCCAGGAATTCCACTGTGAATTAAGCAGATGTAAATTGGACAAATTACCTACCGTTTGCAAGTCGGCACTGTTTCAGCACCTCATTGAAACCCTCACAGAGCTTGATGTCACCCTGGTTCTGGGCACACTCCAGAAACTGTTTGATCTCATAGAGGCAAGGCTGCTGCTGCTGTGCTGGCTGGGTTCCCTGAGGCTCCTGCAAAGGCAAAACATTCAACATTGCTGAGAAAGAAAATCATACTTATGCCTAGACAATGAAGAGTATCCATCCTCTTTGAGGTTAATGGAAAATGGAACTAGCACCAGATGCTAATTAAAGTTTCCAACTATTAACATGGGAAGTGAAAACATTTAAATCTTCATTTACTTAAAAAATATTTTAGGCCAAACATGGTGGCTCACGCCTGTAATTCCAACACTTTGGGAAGCCGAGAAGGGTGAATCACTTGAGGTCAGGCGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCCCTACTAAAAATACAAAAATTAGCCAGGCGTGGTAGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGCGGTGGAGCCTGGATAACAGAGCGAGACTCCACCTCCAAAAAAGAAGAATTTAAATAAATATTTTTAGTAAAGACAGGGTTGCGCTATGTTGCCCAGCCTGGTCTCAAACTTCTGGGTTCAAGCAATCCCTTCACTTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCTCCGTTCCCAGCCAAAAGTGAAAATATTTAAAAGCTGAAAGCCAACAGTTTTAACAAAATTCCAATTACAACCAGAAAGATTCCTAAATAAAGATGCAAATAAAGTGGAATTATTATCTTGTTATCAAGACTAAATGGTTTACTGAAGCTTCAGGGAGGAAAAATGGTACTATTATAGAAAACTGGATGGAGCAGTTTCAAGCACACCGGAAATACAAGAGTATACACACCTATGCTCATTAGACTAGAAAGCCCACACACATCAGAAAGATGGGTAATGGCAAACATCACGTAAAAGAACACACAGCTATGCGAGATTTTTGATTTGTTAACTAAGATCAAGACAAGATTAGTAGGAAGTGTCACTGGGATGAAATATTCAAAGGGAAAAGTGGTTGTTTTACAGTGAGTCAAGTGGACTGTTGTAAGTCTCCTCCTTGGGAAGAAACACAATTTGTACAGTACTTGTTGGTGCTGGCCTAAGGCAGTAACTCAACGGCCAAATGTGGCTTTAAAACCCATTGTCTATTAACAGCACAGTGGGTTCTAAAATCAAAGACAATTCCTACACTTAAGGAACTTACAAACGTCTGGCTTTTCTCATAAAATCCACCCATGGAAGGGAAATGCTGCCTAAATTCCCACCTGGTAAGTGATGTCAGGCCTCGCAGGCTCAGCATTACTTCCTCCACTGAAGCCCCCAGTAATGGCGTGACCCAATGTGTGCCCCACAGCAGAGCCCACAGCCACGCCAGCTGCAGTGGTTGCCATCTGGGCCATCAGACCTGGCTGCCGGGGCGCAGCAGCAGAAGAGCCAACTGCAGATGGGGGTGCCGCTGCTGGTGGCTGAGCGACTGGTGCTGGCCTGGGTGCAGCTCTCATCTGAGGGGCCCGGCTGTGAAAGAAAAGAAAAAAACATCAAGTTCCCAATTCCAACCAGTTTTGGAAATTGTCAACTTAAAATAACTTACATATTAAAATGGACCTCAAGATTTTCATTTCAAATTATTTACATCATTTTCTCTCTTCAATTTTTTTTTTTTTGAGATGGAGCTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCCAGACTCAAGCGATTCTCTTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACCCGCGACCACCTCCGGCTAATTTTTTGTATTTTTAGTTGAGACGAGGTTTCACTATGGTGACCATGGCTGGTCTCCAGCTCCTGACCTCAGGTGATCCACCCGCCTCGGACTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCACGCACGGCCTAATTTTTTTTTTTTTTTTGAGACAGGGCCTCACTCTGATGCCCAGACTGGAGTGCAGTGTCACGATCCAATCTCACTGCAACCTCTGCCTCCTGGGTTCAACCGATTCTTCTGCCTCCGCTTCCCAAGTAGCTGGGATTACAGGCGCGCACCACCACACCTAGCTAATTTTTGTATTTCTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTCGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCGGCCACTTTAATCTTTTCTTATAATAGTAATAGCCTAGGACATACTAGTTTTTTCTGCTTCTTTGCAACAATTTCCATGTATTCGGATAGCCCACAGTATCTTTAAAGACATATCCAACATGTCATAAGAAATACAGACTACTAAAAGTTAGAAAGATTCTTACAGGATTCATTCATTCAAGTATTAGGTAACTACAAGGCGCTGGTAATGTAACTGTGAACAAGAGACAAAAATCTCTGCATTCATGGAGTTTACATTTTATTGACGGATCAAATAATTAACATAGGCTGCGGAGTGGTGGCTCTTGCCTGTAATCCCAGTGATTAGGGAAGTGGAGGCGAAAGGATCATTTGAGGCCAGGACTTTGAGACCAGCCAGGGCCACATAATGAGACCCTGTCTCTGCTAAAATATAAAATAGAATAAAGTCGCCAAGTGTGGTGCACAGGTGGCGCATGCCTGTAGTCCCAGTTACTCTGGAGGCTGACGTGGTAGAATAGCTTGAGCCCAGGAAGTCAAGGCTGCAGTTAGCCATAATTACGTCACTGCACTACAGCCTGAGTTAGACTCTGACTCAAAATATAAATAAATAAACATTCTAATTAGGACTTAAAGATGGTCAACTGGGGAAATAATCTAGTCCAATTCCTTCATTTTACACATTACAAAACAAGACTGGCCAAAGTGACTCGTCTGAACTATTATACCAAAAGCAACTTCAACTATTCCTCATCTGTTCAACGTTCAGATGCTTTCAACAATTTCGAGACCCCTTCTCAAATAACAAAAGACTAATTATGTCCTGCACGTATTTAAAAATCTTCATATGTATCACGCTCCCTCTGACCATTTCCGGATTATTTCCTTGGGTGCTCTTTTCCCCGAAATCAAGCTAGGTCAAAATTTATGCCTTCCTACCACCTGGCCATAACGTTATGCCTTTCCCGTTGTTTGGATAGGAAGCTTTTTCCGTAAGTGAATTCCCTCCCCACACTCCCCTAACATAGGCTTTACGTTCAATCTACCCCCGCCTGGCAGAGGCGAGCCCACGCCGCAGCCGACCTTAGTTCACCCCCGCCCGCGGCCTCCCTCTGCGTCATTGCCCCAGTAGAGTCCGGACGGCCGCGCTTTGGTCTCAAACCCTGCGATGGTCTCACCTGGCCGGAGGGGCCATGCGGGAGGTGC
|
GTCACTTACATCCAGTAATCACAGTAAGATCTGGCATACTGATTTATACCTTCTTTTTTTTTTTTTTCTTTTAAATTTGAGACAGTGTCTCCCACTGGAGACACCCAGTTGCCCAGGCTGGAATGCAGTGGCAGGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTACAGATGGGGTTTTGCCATGTTGGCCAGGCTGGCCTCAAACTCCTGACATCAGGTGATCCACCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCTGGCCTATACCTTCTAAAGGAAGAAAATTCAGAAAATTACTCATAAAAATGACTAGAAACCTCCGGCCCAGTTGTTAGGAGTTAATTCTAGAGAAATTTCAACAAAGTCTTCTCTAATTTATTAAACACAGATTACCCTAAGTTCTACAGGATCCAGGAATTCCACTGTGAATTAAGCAGATGTAAATTGGACAAATTACCTACCGTTTGCAAGTCGGCACTGTTTCAGCACCTCATTGAAACCCTCACAGAGCTTGATGTCACCCTGGTTCTGGGCACACTCCAGAAACTGTTTGATCTCATAGAGGCAAGGCTGCTGCTGCTGTGCTGGCTGGGTTCCCTGAGGCTCCTGCAAAGGCAAAACATTCAACATTGCTGAGAAAGAAAATCATACTTATGCCTAGACAATGAAGAGTATCCATCCTCTTTGAGGTTAATGGAAAATGGAACTAGCACCAGATGCTAATTAAAGTTTCCAACTATTAACATGGGAAGTGAAAACATTTAAATCTTCATTTACTTAAAAAATATTTTAGGCCAAACATGGTGGCTCACGCCTGTAATTCCAACACTTTGGGAAGCCGAGAAGGGTGAATCACTTGAGGTCAGGCGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCCCTACTAAAAATACAAAAATTAGCCAGGCGTGGTAGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGCGGTGGAGCCTGGATAACAGAGCGAGACTCCACCTCCAAAAAAGAAGAATTTAAATAAATATTTTTAGTAAAGACAGGGTTGCGCTATGTTGCCCAGCCTGGTCTCAAACTTCTGGGTTCAAGCAATCCCTTCACTTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCTCCGTTCCCAGCCAAAAGTGAAAATATTTAAAAGCTGAAAGCCAACAGTTTTAACAAAATTCCAATTACAACCAGAAAGATTCCTAAATAAAGATGCAAATAAAGTGGAATTATTATCTTGTTATCAAGACTAAATGGTTTACTGAAGCTTCAGGGAGGAAAAATGGTACTATTATAGAAAACTGGATGGAGCAGTTTCAAGCACACCGGAAATACAAGAGTATACACACCTATGCTCATTAGACTAGAAAGCCCACACACATCAGAAAGATGGGTAATGGCAAACATCACGTAAAAGAACACACAGCTATGCGAGATTTTTGATTTGTTAACTAAGATCAAGACAAGATTAGTAGGAAGTGTCACTGGGATGAAATATTCAAAGGGAAAAGTGGTTGTTTTACAGTGAGTCAAGTGGACTGTTGTAAGTCTCCTCCTTGGGAAGAAACACAATTTGTACAGTACTTGTTGGTGCTGGCCTAAGGCAGTAACTCAACGGCCAAATGTGGCTTTAAAACCCATTGTCTATTAACAGCACAGTGGGTTCTAAAATCAAAGACAATTCCTACACTTAAGGAACTTACAAACGTCTGGCTTTTCTCATAAAATCCACCCATGGAAGGGAAATGCTGCCTAAATTCCCACCTGGTAAGTGATGTCAGGCCTCGCAGGCTCAGCATTACTTCCTCCACTGAAGCCCCCAGTAATGGCGTGACCCAATGTGTGCCCCACAGCAGAGCCCACAGCCACGCCAGCTGCAGTGATTGCCATCTGGGCCATCAGACCTGGCTGCCGGGGCGCAGCAGCAGAAGAGCCAACTGCAGATGGGGGTGCCGCTGCTGGTGGCTGAGCGACTGGTGCTGGCCTGGGTGCAGCTCTCATCTGAGGGGCCCGGCTGTGAAAGAAAAGAAAAAAACATCAAGTTCCCAATTCCAACCAGTTTTGGAAATTGTCAACTTAAAATAACTTACATATTAAAATGGACCTCAAGATTTTCATTTCAAATTATTTACATCATTTTCTCTCTTCAATTTTTTTTTTTTTGAGATGGAGCTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCCAGACTCAAGCGATTCTCTTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACCCGCGACCACCTCCGGCTAATTTTTTGTATTTTTAGTTGAGACGAGGTTTCACTATGGTGACCATGGCTGGTCTCCAGCTCCTGACCTCAGGTGATCCACCCGCCTCGGACTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCACGCACGGCCTAATTTTTTTTTTTTTTTTGAGACAGGGCCTCACTCTGATGCCCAGACTGGAGTGCAGTGTCACGATCCAATCTCACTGCAACCTCTGCCTCCTGGGTTCAACCGATTCTTCTGCCTCCGCTTCCCAAGTAGCTGGGATTACAGGCGCGCACCACCACACCTAGCTAATTTTTGTATTTCTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTCGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCGGCCACTTTAATCTTTTCTTATAATAGTAATAGCCTAGGACATACTAGTTTTTTCTGCTTCTTTGCAACAATTTCCATGTATTCGGATAGCCCACAGTATCTTTAAAGACATATCCAACATGTCATAAGAAATACAGACTACTAAAAGTTAGAAAGATTCTTACAGGATTCATTCATTCAAGTATTAGGTAACTACAAGGCGCTGGTAATGTAACTGTGAACAAGAGACAAAAATCTCTGCATTCATGGAGTTTACATTTTATTGACGGATCAAATAATTAACATAGGCTGCGGAGTGGTGGCTCTTGCCTGTAATCCCAGTGATTAGGGAAGTGGAGGCGAAAGGATCATTTGAGGCCAGGACTTTGAGACCAGCCAGGGCCACATAATGAGACCCTGTCTCTGCTAAAATATAAAATAGAATAAAGTCGCCAAGTGTGGTGCACAGGTGGCGCATGCCTGTAGTCCCAGTTACTCTGGAGGCTGACGTGGTAGAATAGCTTGAGCCCAGGAAGTCAAGGCTGCAGTTAGCCATAATTACGTCACTGCACTACAGCCTGAGTTAGACTCTGACTCAAAATATAAATAAATAAACATTCTAATTAGGACTTAAAGATGGTCAACTGGGGAAATAATCTAGTCCAATTCCTTCATTTTACACATTACAAAACAAGACTGGCCAAAGTGACTCGTCTGAACTATTATACCAAAAGCAACTTCAACTATTCCTCATCTGTTCAACGTTCAGATGCTTTCAACAATTTCGAGACCCCTTCTCAAATAACAAAAGACTAATTATGTCCTGCACGTATTTAAAAATCTTCATATGTATCACGCTCCCTCTGACCATTTCCGGATTATTTCCTTGGGTGCTCTTTTCCCCGAAATCAAGCTAGGTCAAAATTTATGCCTTCCTACCACCTGGCCATAACGTTATGCCTTTCCCGTTGTTTGGATAGGAAGCTTTTTCCGTAAGTGAATTCCCTCCCCACACTCCCCTAACATAGGCTTTACGTTCAATCTACCCCCGCCTGGCAGAGGCGAGCCCACGCCGCAGCCGACCTTAGTTCACCCCCGCCCGCGGCCTCCCTCTGCGTCATTGCCCCAGTAGAGTCCGGACGGCCGCGCTTTGGTCTCAAACCCTGCGATGGTCTCACCTGGCCGGAGGGGCCATGCGGGAGGTGC
|
Task1_train_11203
|
This alteration in GUSB (glucuronidase beta) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Mucopolysaccharidosis type 7
|
TGAGCCATACTTCACGGAATAGAACAAGTGTGTTCTGTGCTGGAGCTCAAGACCTGTGGAAAGGGACTGCCCCCACTGGGTGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTAGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTGCCTCTACTGAAAAATACAGAAAAATTAGCCAGGATTGTGGTGTGCGCCTGTAATCCCAGCTATTCAGGAAGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGTGAGACGAGATCACGCCACTGCACTGCAGCCTAGGCGACAGAGGAAGACTCCAGCTCAAGAAAAAAAACAATGGACTGCCCCTAATTTGTAAACCATTTAAATGTGTCTATTACATTTAACTTTTCTTAATGTTTGTCAACTAAAAGTTTTATTCATTATACTTTGACATACTGGAACACAAAACTTGATTCCTTTGAAAAACTAAAGAGAAGTTGATAAAAAAAATACAGAAGCTCTAGATTCCTAATTGGAACTGACTACACTCATTTTTAAAAAATGGACGATGCCTAATAAAACCACATGAAATTAACTTTATTCTTTCTTTCATGGAGCTTGCACAGGAAAGCTAAAAAGGAGGGTCTGTGTGGAGACACGGGGCTCAACCACAAGAGAGGGGAAAATCAAGTTCTATAGCAAGAACCATATTGGAGGCCGGGCACAGTGGCTCACGCCTATAATCCCAGCACCTGGGGAGGCTGAGGCGAGCAGATCACCTGAGGTCAAGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATTTTTAAAAATTTAGCTGGGAATGGTGGCAGATGCCTGTAGTTCCACCTACTTGGGAGGATGAGGCAGGAGAATTGCTTGAACCCCAGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTGTCTCAAAACAAACAAAACAAACTGTATTGGTTCATTGTCTTTCAACTGACTGGACACCAAAAGGAGTATTTTTCCAAAGCGTATACTTCAAATCAGAATTGATGCACCATCCTTGCCTTACTGGAGCCCAGGAAGAGAGGGAGGACAGATTCCTTAAGGAAAGACTGTGCTCTGGGAGGGGGCAGGTAGCGTCATTTTGGGGTGTAAAGGCATGGAATGCTGATTTGTAGGCAAAGTTGTTTAAGGAGGTCCTGTCACATTCAGTGGCATCCGTTATGATAAAGCCAATAGGCTTTTACACTCATCTGTCCATTTCTGTCAAGACCCTATGGCTGAGGTCAAAACAATGTTCTGGGAGAACCAGTTACCTCTAACCTTCCAATTCAGACACTGCCAGCTTAACTATGTAGAAACTGGCACACAGACCCTGTTAAGTGCTGCAACAATGACAGCGTTTCTATGAATTTGTTGGTACATGTGGGACTTTAGCTCATCTGAGGAGTCGAACAGCAGCTGTGAAAGTCTTCTACTCACTCCCTGTCGAGGCTGGCCTGGTTTGCTACACAAACACGGTGGCCCTAGGACCATGGGGCTATTCCTGCAGACGCCCTCGGGAACCAGCTGCTCTGAACGTGGTGGGGGTGTTGGAGCAGCAGTTTCTCAAAAGTCCACACACAGTTAAAGCTCTGAAAACAGCACGACGCACAGAAATGATTTCAGATGCTTTTCAGTAGCCACTTTCATGCCAACTCTTTATTTCCATAATAGAAAATCTTTTATTTCCACCTTTAGTGTTCCCTGCTAGAATAGATGACCACAAAACCCAGGCCAGAAACGTTCTGGTCTGCCGTGAACAGTCCAGGAGGCACTTGTTCTGCTGCTGTGGAAGTCGCCCTGACTCGGGGAGGAAGGGACACGCAGGTGGTATCAGTCTTGCTCAAGTAAACAGGCTGTTTTCCAAACATTGTGACTTGGCTACTGAGTGGGGATACCTGGTTTCATTGGCAATCTTCCAGTATCTCTCTCGCAAAAGGAACGCTGCACTTTTTGGTTGTCTCTGCCGAGTGAAGATCCCCTTTTTATTCCCCAGCACTCTCGTCGGTGCTACAAAAAAAAAAAAAAGACACAAAGCGATTCAGATGTCTTCTGATGGGTCAAGTTAGAACCAGTCTGGAGCTAAGGTAGGCACTAAATAGAAATGTCTTTTTTTTTCTTTTTTCTCCCTGTTGCCCAGGCTGGAATGCGGTGACACAATCATAGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGCAATCCTCCTGCCTCAGCCTCTCCAGCACCACCATGCCCGGTAATCTTTTATTTTTATTTTTTAGTAAAGACAAGGTCTCATTATGTTGTCCAGGCTGGTCTCAAACTACTGGGCTCAAGCAATCTGCCCTCCTTAGCCTCCCTAAAGTGCTGGGATTATAAGCACAAGCCACCATGCTCAGCCAAATGTCCTCTTACAGTTTCAGGATGCTTGCTCTGAAGTGACAATTTATGGGTTGAAATATTTAAATACCACTGCTCTGCCCAAACACCCAGGTTCCCTGGTGTGTTAATTTCTAGTTTTCTAGTCTGTTAGGGGAAAAAAACCCAAAACAGTGGCCAGGTGTGGTGGCCAACGCCTGTAATCCCAGTGCTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATGAGGAAACCCGCCTCTATTAAAAATACAAAAACTGGCTGGGCACATTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGACAAAGCAGGCGGATCACAAGGTCAGGAGATTAAGACCAGCCTGGACAATATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTATACAGGCATGGTGGTGGGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCCAAAAAAAAAAAAAGCACTAAAAGTTTATCTTTTATTTGCAAACTAAGGTTTACATGCTGGGTACCCAGCTGTCTGGTAACTGGGTAGGCAGAGGGCTAGGGGTATCTGGGACAGTTACCCTTGAAAAGCCTTGGGCCTTTCTGAAGAGATAGCGCCTAGTGGGAGCCAGGGTCCTGACCAGCCACAGGTCCCTGCGTGGGACCTACTCATGGAGTTCAAAGTCCGCCGGGGCTGACGTCCAGCTTGGCAGCACCCACCACTGGTGGTCATTAGGCCTGAGCTGAGCCTGGTGGAGGAGCACAGCTGGCAACGACCTGTCAGGGCTGTGCTCTCAGGACATTCTCTGTCCCCAGTAAGACCACCACTAAATGGAAATGTTAAATGGAAAGGGGGCTTTCCCCACCAAAAGGTTCAAGACTGTTTCTTCCATAAGTGAACACAGGCATCGCCAAGTACTTCATCAAATGCAGCCCTTACGACACCAACAAGGAGGTGGCATTATCCCCACTGGACAGGCTTATGAAAAGCTTAGGTGACTTGCCCAACGTGATGCAGCTCATTTCTTTTTTCTTTTTAAGACCGAGTTTCAGCTGGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGATGTGCGGATCACCTGAGGTCGGTAGTTCAAGCCCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCGCATGCCTGCAATCCCAGTTAATCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTAGGCTGAGATAGCGCCACTGCACTCCAGCCTGGGAAACGAGCAAAACTCCGTCTCAAAAAAAAAAAAGAGTCTCACTCTATTGCTCAAGCTGGAGTACAGTGCTGTGATCTTAGCTCATTGCAACCTCCATCTCCCAGGTTCAACAGATTCTCATGCCTCAGTCTCCCAAGTGGCTGGCATTACAGGCATGCGCTACCACACCCGGCTAATTTTGTATTTTTAGTAGAG
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TGAGCCATACTTCACGGAATAGAACAAGTGTGTTCTGTGCTGGAGCTCAAGACCTGTGGAAAGGGACTGCCCCCACTGGGTGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTAGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTGCCTCTACTGAAAAATACAGAAAAATTAGCCAGGATTGTGGTGTGCGCCTGTAATCCCAGCTATTCAGGAAGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGTGAGACGAGATCACGCCACTGCACTGCAGCCTAGGCGACAGAGGAAGACTCCAGCTCAAGAAAAAAAACAATGGACTGCCCCTAATTTGTAAACCATTTAAATGTGTCTATTACATTTAACTTTTCTTAATGTTTGTCAACTAAAAGTTTTATTCATTATACTTTGACATACTGGAACACAAAACTTGATTCCTTTGAAAAACTAAAGAGAAGTTGATAAAAAAAATACAGAAGCTCTAGATTCCTAATTGGAACTGACTACACTCATTTTTAAAAAATGGACGATGCCTAATAAAACCACATGAAATTAACTTTATTCTTTCTTTCATGGAGCTTGCACAGGAAAGCTAAAAAGGAGGGTCTGTGTGGAGACACGGGGCTCAACCACAAGAGAGGGGAAAATCAAGTTCTATAGCAAGAACCATATTGGAGGCCGGGCACAGTGGCTCACGCCTATAATCCCAGCACCTGGGGAGGCTGAGGCGAGCAGATCACCTGAGGTCAAGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATTTTTAAAAATTTAGCTGGGAATGGTGGCAGATGCCTGTAGTTCCACCTACTTGGGAGGATGAGGCAGGAGAATTGCTTGAACCCCAGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTGTCTCAAAACAAACAAAACAAACTGTATTGGTTCATTGTCTTTCAACTGACTGGACACCAAAAGGAGTATTTTTCCAAAGCGTATACTTCAAATCAGAATTGATGCACCATCCTTGCCTTACTGGAGCCCAGGAAGAGAGGGAGGACAGATTCCTTAAGGAAAGACTGTGCTCTGGGAGGGGGCAGGTAGCGTCATTTTGGGGTGTAAAGGCATGGAATGCTGATTTGTAGGCAAAGTTGTTTAAGGAGGTCCTGTCACATTCAGTGGCATCCGTTATGATAAAGCCAATAGGCTTTTACACTCATCTGTCCATTTCTGTCAAGACCCTATGGCTGAGGTCAAAACAATGTTCTGGGAGAACCAGTTACCTCTAACCTTCCAATTCAGACACTGCCAGCTTAACTATGTAGAAACTGGCACACAGACCCTGTTAAGTGCTGCAACAATGACAGCGTTTCTATGAATTTGTTGGTACATGTGGGACTTTAGCTCATCTGAGGAGTCGAACAGCAGCTGTGAAAGTCTTCTACTCACTCCCTGTCGAGGCTGGCCTGGTTTGCTACACAAACACGGTGGCCCTAGGACCATGGGGCTATTCCTGCAGACGCCCTCGGGAACCAGCTGCTCTGAACGTGGTGGGGGTGTTGGAGCAGCAGTTTCTCAAAAGTCCACACACAGTTAAAGCTCTGAAAACAGCACGACGCACAGAAATGATTTCAGATGCTTTTCAGTAGCCACTTTCATGCCAACTCTTTATTTCCATAATAGAAAATCTTTTATTTCCACCTTTAGTGTTCCCTGCTAGAATAGATGACCACAAAACCCAGGCCAGAAACGTTCTGGTCTGCCGTGAACAGTCCAGGAGGCACTTGTTCTGCTGCTGTGGAAGTCGCCCTGACTCGGGGAGGAAGGGACACGCAGGTGGTATCAGTCTTGCTCAAGTAAACAGGCTGTTTTCCAAACATTGTGACTTGGCTACTGAGTGGGGATACCTGGTTTCATTGGCAATCTTCCAGTATCTCTCTCGCAAAAGGAACACTGCACTTTTTGGTTGTCTCTGCCGAGTGAAGATCCCCTTTTTATTCCCCAGCACTCTCGTCGGTGCTACAAAAAAAAAAAAAAGACACAAAGCGATTCAGATGTCTTCTGATGGGTCAAGTTAGAACCAGTCTGGAGCTAAGGTAGGCACTAAATAGAAATGTCTTTTTTTTTCTTTTTTCTCCCTGTTGCCCAGGCTGGAATGCGGTGACACAATCATAGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGCAATCCTCCTGCCTCAGCCTCTCCAGCACCACCATGCCCGGTAATCTTTTATTTTTATTTTTTAGTAAAGACAAGGTCTCATTATGTTGTCCAGGCTGGTCTCAAACTACTGGGCTCAAGCAATCTGCCCTCCTTAGCCTCCCTAAAGTGCTGGGATTATAAGCACAAGCCACCATGCTCAGCCAAATGTCCTCTTACAGTTTCAGGATGCTTGCTCTGAAGTGACAATTTATGGGTTGAAATATTTAAATACCACTGCTCTGCCCAAACACCCAGGTTCCCTGGTGTGTTAATTTCTAGTTTTCTAGTCTGTTAGGGGAAAAAAACCCAAAACAGTGGCCAGGTGTGGTGGCCAACGCCTGTAATCCCAGTGCTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATGAGGAAACCCGCCTCTATTAAAAATACAAAAACTGGCTGGGCACATTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGACAAAGCAGGCGGATCACAAGGTCAGGAGATTAAGACCAGCCTGGACAATATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTATACAGGCATGGTGGTGGGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCCAAAAAAAAAAAAAGCACTAAAAGTTTATCTTTTATTTGCAAACTAAGGTTTACATGCTGGGTACCCAGCTGTCTGGTAACTGGGTAGGCAGAGGGCTAGGGGTATCTGGGACAGTTACCCTTGAAAAGCCTTGGGCCTTTCTGAAGAGATAGCGCCTAGTGGGAGCCAGGGTCCTGACCAGCCACAGGTCCCTGCGTGGGACCTACTCATGGAGTTCAAAGTCCGCCGGGGCTGACGTCCAGCTTGGCAGCACCCACCACTGGTGGTCATTAGGCCTGAGCTGAGCCTGGTGGAGGAGCACAGCTGGCAACGACCTGTCAGGGCTGTGCTCTCAGGACATTCTCTGTCCCCAGTAAGACCACCACTAAATGGAAATGTTAAATGGAAAGGGGGCTTTCCCCACCAAAAGGTTCAAGACTGTTTCTTCCATAAGTGAACACAGGCATCGCCAAGTACTTCATCAAATGCAGCCCTTACGACACCAACAAGGAGGTGGCATTATCCCCACTGGACAGGCTTATGAAAAGCTTAGGTGACTTGCCCAACGTGATGCAGCTCATTTCTTTTTTCTTTTTAAGACCGAGTTTCAGCTGGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGATGTGCGGATCACCTGAGGTCGGTAGTTCAAGCCCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCGCATGCCTGCAATCCCAGTTAATCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTAGGCTGAGATAGCGCCACTGCACTCCAGCCTGGGAAACGAGCAAAACTCCGTCTCAAAAAAAAAAAAGAGTCTCACTCTATTGCTCAAGCTGGAGTACAGTGCTGTGATCTTAGCTCATTGCAACCTCCATCTCCCAGGTTCAACAGATTCTCATGCCTCAGTCTCCCAAGTGGCTGGCATTACAGGCATGCGCTACCACACCCGGCTAATTTTGTATTTTTAGTAGAG
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Task1_train_11204
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A sequence alteration has been identified in GUSB (glucuronidase beta) on Chromosome 7. Is it disease-inducing or harmless?
|
Pathogenic; Mucopolysaccharidosis type 7
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TCAGGACATTCTCTGTCCCCAGTAAGACCACCACTAAATGGAAATGTTAAATGGAAAGGGGGCTTTCCCCACCAAAAGGTTCAAGACTGTTTCTTCCATAAGTGAACACAGGCATCGCCAAGTACTTCATCAAATGCAGCCCTTACGACACCAACAAGGAGGTGGCATTATCCCCACTGGACAGGCTTATGAAAAGCTTAGGTGACTTGCCCAACGTGATGCAGCTCATTTCTTTTTTCTTTTTAAGACCGAGTTTCAGCTGGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGATGTGCGGATCACCTGAGGTCGGTAGTTCAAGCCCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCGCATGCCTGCAATCCCAGTTAATCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTAGGCTGAGATAGCGCCACTGCACTCCAGCCTGGGAAACGAGCAAAACTCCGTCTCAAAAAAAAAAAAGAGTCTCACTCTATTGCTCAAGCTGGAGTACAGTGCTGTGATCTTAGCTCATTGCAACCTCCATCTCCCAGGTTCAACAGATTCTCATGCCTCAGTCTCCCAAGTGGCTGGCATTACAGGCATGCGCTACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCATGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGTCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCTTGAGCCACTGCGCCCAGCCTGCAGCTCATTTCTTACCGCATAAAGCCTCGCACCTCTCCACAAAACTGCCATCAGGGATGTCCCCAGAAACCATTTATCACAGGTGCCACGCAGAGGACAGCTTCCTGTTCTCCTTTTCCCTTTACCTCTTCCTTCTCACCTCATCTTGTTCATTCATTCATCCGTATTCCATTCTCACTCTTACGCTTTACCTTTCAAAGGCCTGTCTTTCCCTGTAAGTAATGTATTATAATTCCCACCATTACCACATGCTTCTCCAACCCACCAAACTGCTATCTTCAGTTTATGGTAAGTCCATAAACTAAGAAGAAATGGGACACATTCATTGCGAACTTGGCAGCCCCTCATCCATCCTCACAAGACACCGCAGATGTTATTCTCTTTGAAGACCAATCTTGTGTTTTAAAGACAAGTCTCACTCTGTTGTCCAGGCTCTTGTGCAGTGGTGCAATCATAGTTCACTGCAGCCTCCAACTCCTGTGCTCAGGTTATCCGCCTGCCTCAGCCTCCCAAGCAGCTGAGACTACAGGCACACACCACCACGCCTAGCTAATCTGTTTATTTTTTGTAGAGATGGGGTCTTGCTATGCTGAACAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCCACCCTGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTACACCTGGCCTGAAGACTTGTAAATGCTGCCAAATTCAAGATGCGTTGAAACTCACCTGTATTTGATAAGCCTGCTTTTCGCAAGTAATATACAACAGACTGAAATACCTTAAGTTTCTCAGGCTTTGTACCCTTCTATGGAATAATGAGTGTATCCCAAAAGTAAATCCATGATGAGGTCCCGTTTTTCGTTCCTCCTTGGCTACAAAATAGACAAGGAAAAGGCAAGCCAGCCATTTCCGATTCACTATAGCTGACTCTCCTGTTTGCTTTTTGACCGTATTTGGGAGGCGGGGGCCTGATTGCTTTCCTACTTCCTAAACACAACTTACTTTTCCTAGAAAATTCTCAACGCAACCTACATGGATTAAACCAGCTTCCCCAACTTTGTTTCCAATATTCTTACAATTGAAATGGCCAGAATTGGAAAGGCAACCTGAAAAAATGAGGACGGGTACGTTATCCCATGAGCCAAACTGCCACTTACACTGTTCAGTCATGAAATCGGCAAAATTCCAAATGAGCTCTCCAACCACGTATTTTCTGCGTTTTTGATCCAGACCCAGATGGTACTGCTCTAGCAGACTTTTCTGGTACTCTTCAGTGAACATCAGAGGTGGATCCTAGGATTCAAGGCAAAGAGAATGTAAGAGTCAGAACTGGCAGAATTGTAAATGTTAGATAAAAATAAAGATCCACTTGATGGTGACCAAAATATCTGTCTTCACAGGGGGCTATAGTGACTGCAGGACTCACTGATGCTGGGGTAAAGACAGCCAGGGAATGATGTAACCCAGAATAAAAAAGGAGGTTTAAAAAAAAAAACAACCTTAATGAGCAGCTGCTTTATTTATAAACGTAATTTGACATTCGTTTCACATTACTTTTCCACCTCTATCTGCTGGTACAGTCTTAAGGCTAAACTACACTACAGGCAAAAATATGTCTTTCAGTCAGGTGCAGTGGCTCATGTCTGTCATCCCAGCAATTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGTGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTACAAAAAGTACAAAAATTAGCCAAGCCTAGTGGCACACATCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTTGGAGGACTGCTTGAGCCCCAGAGATCAAAGCGACAGTGAGCTGTGTTCACACCACTGCACTCCAGTTTGGGTGACACAGTGAGACCCTGTCTCTAATAAATATATATATATATATAAAAATTAAATTAAATTAAACTCAACCAAACCAGGCTGGGCATGGTACCTCAGGTCTGTAATGCCAGCACTTTTGGAGGTCGAGACAGGAGGATCACTTCAGCCCAGGATTTCAAGACTAGTCTAGGCAACACAGTGAGACCCAGTCTCTACAAAAAGTCAAAATATTAGCCAGGTGTGGTGGCGCACGCCTGCAGTTCAAGCTACTTGGGGCTAAGGAGGGAGGATCGCTTGAGCCCAGGAGGTTGAGCAGTGAGCTGTGATTATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCTGTCTCAAAAAAATTTATTTAATTAAACTAAATCAATTCAGTTATCCTAGTCATATATCAAGACCTCAGTAGCCATGTGTAGCTAGTGTGTACCATTTCAGACAGTGCAAATATAGAACATTTCCATCATTGCAAGTTTGTTTTTTTTTATTTTTTGAAACAAGGTCTCACTCTGTCACCCAGGTGGGAGTACAGTGGTGCAATCATAGCTGAATGCAGCCTTGACCTACTGGGCTCAAACAATCCTCCCACCTCAGCCTCCCAAGTGGCTTGGACTACAAGCACTCATAACCATGCCCAACTAATTTTAAATTTTTTGTAGAGATGGGGTCTATGTTGCACAGACTGGTCTCAAACTCCTGGGCTCAAGAGATCCTCTGACCTTGGCCTCCCAAAGTGCCAGCATTCCAGGTGTGAGCCACCATGCCCAGCACTGCAGAGGTTCTATCAGCACTGACCTAGACCCTCTCAAGAGTTTCTTAAGAATTCAGAGCTAGGGCTTGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAATGAGGTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAACCAGGGAGGTGGACATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTAGGCAACGAGAGCGAAACTCTGTGTCAAAAAAAAAAAAAGAATTCAGAGCTGGTTACCTTTTCAAAGAGGATGCGCAAGCAAATATATCCAAGAGCCACTTCCCCTACTTGACTAGTTTGCAGAAGTGGCATTCTGTAAGCACGATAAATTTAAGGGTGCAAACAGAACAGCGCAGTCCACTGTGGGTGGCTGTTCCCTGTGTGTCAACCAGGAGCTGTGACAAACAAGTGTGAGCTGGCTGGGGTGGGAATGAGGGGCTGGATGGGGTTCAGGAATCCACAGGA
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TCAGGACATTCTCTGTCCCCAGTAAGACCACCACTAAATGGAAATGTTAAATGGAAAGGGGGCTTTCCCCACCAAAAGGTTCAAGACTGTTTCTTCCATAAGTGAACACAGGCATCGCCAAGTACTTCATCAAATGCAGCCCTTACGACACCAACAAGGAGGTGGCATTATCCCCACTGGACAGGCTTATGAAAAGCTTAGGTGACTTGCCCAACGTGATGCAGCTCATTTCTTTTTTCTTTTTAAGACCGAGTTTCAGCTGGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGATGTGCGGATCACCTGAGGTCGGTAGTTCAAGCCCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCGCATGCCTGCAATCCCAGTTAATCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTAGGCTGAGATAGCGCCACTGCACTCCAGCCTGGGAAACGAGCAAAACTCCGTCTCAAAAAAAAAAAAGAGTCTCACTCTATTGCTCAAGCTGGAGTACAGTGCTGTGATCTTAGCTCATTGCAACCTCCATCTCCCAGGTTCAACAGATTCTCATGCCTCAGTCTCCCAAGTGGCTGGCATTACAGGCATGCGCTACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCATGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGTCCACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCTTGAGCCACTGCGCCCAGCCTGCAGCTCATTTCTTACCGCATAAAGCCTCGCACCTCTCCACAAAACTGCCATCAGGGATGTCCCCAGAAACCATTTATCACAGGTGCCACGCAGAGGACAGCTTCCTGTTCTCCTTTTCCCTTTACCTCTTCCTTCTCACCTCATCTTGTTCATTCATTCATCCGTATTCCATTCTCACTCTTACGCTTTACCTTTCAAAGGCCTGTCTTTCCCTGTAAGTAATGTATTATAATTCCCACCATTACCACATGCTTCTCCAACCCACCAAACTGCTATCTTCAGTTTATGGTAAGTCCATAAACTAAGAAGAAATGGGACACATTCATTGCGAACTTGGCAGCCCCTCATCCATCCTCACAAGACACCGCAGATGTTATTCTCTTTGAAGACCAATCTTGTGTTTTAAAGACAAGTCTCACTCTGTTGTCCAGGCTCTTGTGCAGTGGTGCAATCATAGTTCACTGCAGCCTCCAACTCCTGTGCTCAGGTTATCCGCCTGCCTCAGCCTCCCAAGCAGCTGAGACTACAGGCACACACCACCACGCCTAGCTAATCTGTTTATTTTTTGTAGAGATGGGGTCTTGCTATGCTGAACAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCCACCCTGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTACACCTGGCCTGAAGACTTGTAAATGCTGCCAAATTCAAGATGCGTTGAAACTCACCTGTATTTGATAAGCCTGCTTTTCGCAAGTAATATACAACAGACTGAAATACCTTAAGTTTCTCAGGCTTTGTACCCTTCTATGGAATAATGAGTGTATCCCAAAAGTAAATCCATGATGAGGTCCCGTTTTTCGTTCCTCCTTGGCTACAAAATAGACAAGGAAAAGGCAAGCCAGCCATTTCCGATTCACTATAGCTGACTCTCCTGTTTGCTTTTTGACCGTATTTGGGAGGCGGGGGCCTGATTGCTTTCCTACTTCCTAAACACAACTTACTTTTCCTAGAAAATTCTCAACGCAACCTACATGGATTAAACCAGCTTCCCCAACTTTGTTTCCAATATTCTTACAATTGAAATGGCCAGAATTGGAAAGGCAACCTGAAAAAATGAGGACGGGTACGTTATCCCATGAGCCAAACTGCCACTTACACTGTTCAGTCATGAAATCGGCAAAATTCCAAATGAGCTCTCCAACCACGTATTTTCTGAGTTTTTGATCCAGACCCAGATGGTACTGCTCTAGCAGACTTTTCTGGTACTCTTCAGTGAACATCAGAGGTGGATCCTAGGATTCAAGGCAAAGAGAATGTAAGAGTCAGAACTGGCAGAATTGTAAATGTTAGATAAAAATAAAGATCCACTTGATGGTGACCAAAATATCTGTCTTCACAGGGGGCTATAGTGACTGCAGGACTCACTGATGCTGGGGTAAAGACAGCCAGGGAATGATGTAACCCAGAATAAAAAAGGAGGTTTAAAAAAAAAAACAACCTTAATGAGCAGCTGCTTTATTTATAAACGTAATTTGACATTCGTTTCACATTACTTTTCCACCTCTATCTGCTGGTACAGTCTTAAGGCTAAACTACACTACAGGCAAAAATATGTCTTTCAGTCAGGTGCAGTGGCTCATGTCTGTCATCCCAGCAATTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGTGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTACAAAAAGTACAAAAATTAGCCAAGCCTAGTGGCACACATCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTTGGAGGACTGCTTGAGCCCCAGAGATCAAAGCGACAGTGAGCTGTGTTCACACCACTGCACTCCAGTTTGGGTGACACAGTGAGACCCTGTCTCTAATAAATATATATATATATATAAAAATTAAATTAAATTAAACTCAACCAAACCAGGCTGGGCATGGTACCTCAGGTCTGTAATGCCAGCACTTTTGGAGGTCGAGACAGGAGGATCACTTCAGCCCAGGATTTCAAGACTAGTCTAGGCAACACAGTGAGACCCAGTCTCTACAAAAAGTCAAAATATTAGCCAGGTGTGGTGGCGCACGCCTGCAGTTCAAGCTACTTGGGGCTAAGGAGGGAGGATCGCTTGAGCCCAGGAGGTTGAGCAGTGAGCTGTGATTATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCTGTCTCAAAAAAATTTATTTAATTAAACTAAATCAATTCAGTTATCCTAGTCATATATCAAGACCTCAGTAGCCATGTGTAGCTAGTGTGTACCATTTCAGACAGTGCAAATATAGAACATTTCCATCATTGCAAGTTTGTTTTTTTTTATTTTTTGAAACAAGGTCTCACTCTGTCACCCAGGTGGGAGTACAGTGGTGCAATCATAGCTGAATGCAGCCTTGACCTACTGGGCTCAAACAATCCTCCCACCTCAGCCTCCCAAGTGGCTTGGACTACAAGCACTCATAACCATGCCCAACTAATTTTAAATTTTTTGTAGAGATGGGGTCTATGTTGCACAGACTGGTCTCAAACTCCTGGGCTCAAGAGATCCTCTGACCTTGGCCTCCCAAAGTGCCAGCATTCCAGGTGTGAGCCACCATGCCCAGCACTGCAGAGGTTCTATCAGCACTGACCTAGACCCTCTCAAGAGTTTCTTAAGAATTCAGAGCTAGGGCTTGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAATGAGGTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAACCAGGGAGGTGGACATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTAGGCAACGAGAGCGAAACTCTGTGTCAAAAAAAAAAAAAGAATTCAGAGCTGGTTACCTTTTCAAAGAGGATGCGCAAGCAAATATATCCAAGAGCCACTTCCCCTACTTGACTAGTTTGCAGAAGTGGCATTCTGTAAGCACGATAAATTTAAGGGTGCAAACAGAACAGCGCAGTCCACTGTGGGTGGCTGTTCCCTGTGTGTCAACCAGGAGCTGTGACAAACAAGTGTGAGCTGGCTGGGGTGGGAATGAGGGGCTGGATGGGGTTCAGGAATCCACAGGA
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Task1_train_11205
|
The gene GUSB (glucuronidase beta) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Mucopolysaccharidosis type 7
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TTCTGCCTGCTGCAGACTTGGCTCAGCCCAAAGCACTGCATGAAATTGGGGTGTGCTGTATGAGTCAAGAGGCATTTCTACCACCTCTCCTGCTTCTACCCCAAGTGAAAAATCCAACTCTGAACGCTGAGTTAGAACTGCACGATTGTAAGGAAGAAAAGGGGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAAGGTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTCCACGCCAGCCTGGCAAACATGGTGAAACCCAGTCTCTAATTAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTAAGTGGATCTCCTGAGGTCAGTAGTCCAAGACCAGCCTGGCCCAACATAGTGAAACCCCGTCTCTACTGAAAAATGCAAAAGTTGGCCAGGCGTGGTAGCTCACGCCTGTAATCCGAGCACTTCAGGAGGCCGAGGCAGGCGGATCATGAGTTCAAGAGATCGAGACCATCCTAGCCAAAATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTAGCAGGGTATGTTGGCGTGTGCCTGTAATCCCAACTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGAAGGTTGCAGTGAGACGAGATTGCGCCACTGCACTCCAGCCTGGCCACGGAGTGAGACTCCATCTCATAAAAAGGAAAAAAGGAAAACTTAGCTGGGCGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATCACTTGAACCTGAGCGGCAGAGGTTGCAGTGAGCTGAGATCATGCCCCTGCACTCCATCCTGGGCAATAGAGGGAGACTGCATATCCAAAAAATAAAAAATAAAGCAAAAATTAGCTGGGCGTGATGACACACATCTAGAATCCCAGCTACTTGGGAGGCTGAGACAGGAGGATCACCTGAGCCTGGGAAGTCAAGGCTGCAGTAAGCCAAAACTGCACCGCTGCACTCCAACCTGGGCAACCAGAGTGAGAACCCATTTTGAAAAAAAAAAACAGCCCCAGCACAGTGGTTCATGGGTGCCTGTAATCCTAGCTACTCAGGAGACTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGTAATGAGCGGAGATCACCCCACTGCACTCCAGCCTGGGCCATATAGTGAGACTCCATCTCAAAAAGAAAAAAAAAGAACAAAAAAGAAAACCACAATTTGGGTGGGTAGATATTTGGTCCCCTGAACTATCTGGGTATGGACGGCCTTCCCATTGGGCTGGACACGAGGCCGATCTTGAACAGCACATGCCCACCGAGGCCAGCCACCTGCCAGGGTCTCCTTCCCACTCTAGCCGAGGGCAGGGAGGGAGCACTCACTTCAAGTAGTAGCCAGCAGATTCTAGGTGGGACGCAGGCTCGTTGGCCACAGACCACATCACGACCGCGGGGTGGTTCTTGTCCCTACGCACCACTTCTTCCATCACCTGCATGTGGTGATGCAGAGAAACGTTGTTGAAGAACTGCCTGCGGGCCAGGAGGGAAGGGACAGAGGGTCACGGTGACGCCCCCGGGCTGGGCAGGCGGAGCAGGTGCACAGCAGAGACTCACGGCAGCGCCAGGCCCACGCCGGGACACTCATCGATGACCACAATCCCATAGCGGTCACACATCTGCATCACTTCCTCTGCATAGGGGTAGTGGCTGGTACGGAAAGCGTTGGCACCAAGCCAGCGAAGCAGGTTGAAGTCCTTCACCAGCAGCGGCCAGTCGAAGCCCTTCCCTCGGATCTAGGAGATAGCAGAGCCAAGTGACCCCTGTCCCTGTCGAAGCTGCACTTCCTCTGAGAGCCAGGACCCTGGAGAGCCACCCCATGAGCCCCCTCTCCATTTGGAGCCATTTGCCTCATTGCCCTGAGCTGCCCTCAACTGCAGGACACAGGGAAGGCGAAAGTGGAGGGTGACCAGAAGCAGCCCCGACAAGGACCCAGGAGCCCCAACACACGTCCGCATCCTCATGCTTGTTGACACCGTGGAAATAGAAAGGTTTCCCATTGATGAGGAACTGGCTCTTGGTGACAGCCACAGTGCGGATCCCCACAGGGAGTGTGTAGAAGTCAGACACAGGCCCCAGTGACGTCTGTGCAGTCAGCTGCACCTATGACAGCCAAAGCACCAGGTGTGAGCACCCCGACAGCCTGAGCCCCATCCGGCCTGCCCTCCAGCAGGAAGGCCCCTCGTGCACCCCAGCAGCTGCCTCTGGGCCTGTAAGCAGAGATGCAGCAATCAGAGGTTCTGCCCTACCCTGGCTGACCCTGGGAACCTGCCCTTCAAAACATGGCCTTCCCTTTGACAAGACAAGGTGGCTCATGCCTGGAGTTCCCACACTTTGGGAGGCTAAGGCAGGAGGATCACTTGAGTCCAGGAGTTGAAGACCAGCCTGCTGACAGACTGAGACCCCATCTCTATAAAAAAAAAATGTTTTTCTTCTGAGACAGTCTCAGTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTCTGCCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTGGCTGGAATTACAGGTGTTCGCCACCATGCCCAGCAAATTTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGGCCTCAAGTGATCCACCCACCTCAGCCTCCCAAAATGCTGAGATTACAGGCATGAGTCACTCTGCCCAGGCTACAAAATTTTTTTTATTTAGCCAGACATGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCCAAGGCAGGAGGACTGCTGCAGGCTGAGAGTTCAAGGCTGCAGTGAGCTGTGATCAGGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACCATCTCAAAAAAAAAAAAAAAAAAGAAAATGGGCCTCCCACCAAGGGTGAGAAACATCAGAAAGCTCAGAGGACCATGCCTGCCCATCCACCTGTCTTGGGCTCCTGCTGAAGCCAGGGTCACCACATGGGGGCAAAAGACCTCCCTTAGGCATGTCCCAAACCACCATTACCTCCAATGAATACAGATAGGCAGGGCGTTCGTGCATCAGGTACGGCCACCAGAGGCTGACACCTGGCACCTTAAGTTGGCCCTGGGTCCCAGTCCCATTCGCCACGACTTTGTTTTCTGCATCCAAAAGACGCACTTCCAACTTGAACAGGTTACTGCCCTTGACAGAGATCTGGTAATTCACCAGCCCTGCAAGAAACAAGAGAGACCAGGGCTGAGGGAGGGACACGACCTGAGTCACACAAACAGGAGCGCCCTGCAGCCACCGCTGCCAGGCAGCCATTTGTTTCTGTTGCTTTTTTTAAATTTAATTTCTTATTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCTGGGGTTCAGGTGATTCTCCTGTCTCAGCCTCCCAAGTACCTGGGATTATAGACGTGCACCACCATGCTTGGCGAATTTTTATATTTTTAGTAGAGATGGGTTTTGTCATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGTGCTTTTTTTAATTTAAAAAAAGATTTTGGCCAGGTGCAGTGGTCACACCTGTAATCCCAACACTTGAGGAGGCTGGGGTGGGAGGATCGCTTGAGACCAGGAGTTCAAGACCAGCCTGGGTAACATAGGGAAACCACTTCTTCCCTAAAAATACAAACAATCAGCCGGTCGTGGTGGTGCGTGCTTGCAGCCCCGGCAGCCCCAGCTACTTGGGAGGCTGAAGTGGGAGGATTGCTTGAGCCAGGAGTTCGGGGCTGCAGTGAGCTATGATCTTGAGGCAGGATAGGTAGTCAAGGAAGTGACCGTGTCCCTCAGACATGCCAACCACGGCACTGAGACACGTGACGTGTGAACAAGC
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TTCTGCCTGCTGCAGACTTGGCTCAGCCCAAAGCACTGCATGAAATTGGGGTGTGCTGTATGAGTCAAGAGGCATTTCTACCACCTCTCCTGCTTCTACCCCAAGTGAAAAATCCAACTCTGAACGCTGAGTTAGAACTGCACGATTGTAAGGAAGAAAAGGGGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAAGGTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTCCACGCCAGCCTGGCAAACATGGTGAAACCCAGTCTCTAATTAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTAAGTGGATCTCCTGAGGTCAGTAGTCCAAGACCAGCCTGGCCCAACATAGTGAAACCCCGTCTCTACTGAAAAATGCAAAAGTTGGCCAGGCGTGGTAGCTCACGCCTGTAATCCGAGCACTTCAGGAGGCCGAGGCAGGCGGATCATGAGTTCAAGAGATCGAGACCATCCTAGCCAAAATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTAGCAGGGTATGTTGGCGTGTGCCTGTAATCCCAACTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGAAGGTTGCAGTGAGACGAGATTGCGCCACTGCACTCCAGCCTGGCCACGGAGTGAGACTCCATCTCATAAAAAGGAAAAAAGGAAAACTTAGCTGGGCGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATCACTTGAACCTGAGCGGCAGAGGTTGCAGTGAGCTGAGATCATGCCCCTGCACTCCATCCTGGGCAATAGAGGGAGACTGCATATCCAAAAAATAAAAAATAAAGCAAAAATTAGCTGGGCGTGATGACACACATCTAGAATCCCAGCTACTTGGGAGGCTGAGACAGGAGGATCACCTGAGCCTGGGAAGTCAAGGCTGCAGTAAGCCAAAACTGCACCGCTGCACTCCAACCTGGGCAACCAGAGTGAGAACCCATTTTGAAAAAAAAAAACAGCCCCAGCACAGTGGTTCATGGGTGCCTGTAATCCTAGCTACTCAGGAGACTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGTAATGAGCGGAGATCACCCCACTGCACTCCAGCCTGGGCCATATAGTGAGACTCCATCTCAAAAAGAAAAAAAAAGAACAAAAAAGAAAACCACAATTTGGGTGGGTAGATATTTGGTCCCCTGAACTATCTGGGTATGGACGGCCTTCCCATTGGGCTGGACACGAGGCCGATCTTGAACAGCACATGCCCACCGAGGCCAGCCACCTGCCAGGGTCTCCTTCCCACTCTAGCCGAGGGCAGGGAGGGAGCACTCACTTCAAGTAGTAGCCAGCAGATTCTAGGTGGGACGCAGGCTCGTTGGCCACAGACCACATCACGACCGCGGGGTGGTTCTTGTCCCTACGCACCACTTCTTCCATCACCTGCATGTGGTGATGCAGAGAAACGTTGTTGAAGAACTGCCTGCGGGCCAGGAGGGAAGGGACAGAGGGTCACGGTGACGCCCCCGGGCTGGGCAGGCGGAGCAGGTGCACAGCAGAGACTCACGGCAGCGCCAGGCCCACGCCGGGACACTCATCGATGACCACAATCCCATAGCGGTCACACATCTGCATCACTTCCTCTGCATAGGGGTAGTGGCTGGTACGGAAAGCGTTGGCACCAAGCCAGCGAAGCAGGTTGAAGTCCTTCACCAGCAGCGGCCAGTCGAAGCCCTTCCCTCGGATCTAGGAGATAGCAGAGCCAAGTGACCCCTGTCCCTGTCGAAGCTGCACTTCCTCTGAGAGCCAGGACCCTGGAGAGCCACCCCATGAGCCCCCTCTCCATTTGGAGCCATTTGCCTCATTGCCCTGAGCTGCCCTCAACTGCAGGACACAGGGAAGGCGAAAGTGGAGGGTGACCAGAAGCAGCCCCGACAAGGACCCAGGAGCCCCAACACACGTCCGCATCCTCATGGTTGTTGACACCGTGGAAATAGAAAGGTTTCCCATTGATGAGGAACTGGCTCTTGGTGACAGCCACAGTGCGGATCCCCACAGGGAGTGTGTAGAAGTCAGACACAGGCCCCAGTGACGTCTGTGCAGTCAGCTGCACCTATGACAGCCAAAGCACCAGGTGTGAGCACCCCGACAGCCTGAGCCCCATCCGGCCTGCCCTCCAGCAGGAAGGCCCCTCGTGCACCCCAGCAGCTGCCTCTGGGCCTGTAAGCAGAGATGCAGCAATCAGAGGTTCTGCCCTACCCTGGCTGACCCTGGGAACCTGCCCTTCAAAACATGGCCTTCCCTTTGACAAGACAAGGTGGCTCATGCCTGGAGTTCCCACACTTTGGGAGGCTAAGGCAGGAGGATCACTTGAGTCCAGGAGTTGAAGACCAGCCTGCTGACAGACTGAGACCCCATCTCTATAAAAAAAAAATGTTTTTCTTCTGAGACAGTCTCAGTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTCTGCCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTGGCTGGAATTACAGGTGTTCGCCACCATGCCCAGCAAATTTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGGCCTCAAGTGATCCACCCACCTCAGCCTCCCAAAATGCTGAGATTACAGGCATGAGTCACTCTGCCCAGGCTACAAAATTTTTTTTATTTAGCCAGACATGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCCAAGGCAGGAGGACTGCTGCAGGCTGAGAGTTCAAGGCTGCAGTGAGCTGTGATCAGGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACCATCTCAAAAAAAAAAAAAAAAAAGAAAATGGGCCTCCCACCAAGGGTGAGAAACATCAGAAAGCTCAGAGGACCATGCCTGCCCATCCACCTGTCTTGGGCTCCTGCTGAAGCCAGGGTCACCACATGGGGGCAAAAGACCTCCCTTAGGCATGTCCCAAACCACCATTACCTCCAATGAATACAGATAGGCAGGGCGTTCGTGCATCAGGTACGGCCACCAGAGGCTGACACCTGGCACCTTAAGTTGGCCCTGGGTCCCAGTCCCATTCGCCACGACTTTGTTTTCTGCATCCAAAAGACGCACTTCCAACTTGAACAGGTTACTGCCCTTGACAGAGATCTGGTAATTCACCAGCCCTGCAAGAAACAAGAGAGACCAGGGCTGAGGGAGGGACACGACCTGAGTCACACAAACAGGAGCGCCCTGCAGCCACCGCTGCCAGGCAGCCATTTGTTTCTGTTGCTTTTTTTAAATTTAATTTCTTATTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCTGGGGTTCAGGTGATTCTCCTGTCTCAGCCTCCCAAGTACCTGGGATTATAGACGTGCACCACCATGCTTGGCGAATTTTTATATTTTTAGTAGAGATGGGTTTTGTCATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGTGCTTTTTTTAATTTAAAAAAAGATTTTGGCCAGGTGCAGTGGTCACACCTGTAATCCCAACACTTGAGGAGGCTGGGGTGGGAGGATCGCTTGAGACCAGGAGTTCAAGACCAGCCTGGGTAACATAGGGAAACCACTTCTTCCCTAAAAATACAAACAATCAGCCGGTCGTGGTGGTGCGTGCTTGCAGCCCCGGCAGCCCCAGCTACTTGGGAGGCTGAAGTGGGAGGATTGCTTGAGCCAGGAGTTCGGGGCTGCAGTGAGCTATGATCTTGAGGCAGGATAGGTAGTCAAGGAAGTGACCGTGTCCCTCAGACATGCCAACCACGGCACTGAGACACGTGACGTGTGAACAAGC
|
Task1_train_11206
|
The gene GUSB (glucuronidase beta) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Mucopolysaccharidosis type 7
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GTCAATAATCTCACCACTGCACTCCAGCCTGGGCCACAGTGCAAGCCTCATCTCAGAAAAAGAAAAAGATATATATATATTTTTTTATTTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGATCCCCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGCCCTGAAAAAGATATATTTTTAAAAAGAAAAAAAACTTAAAACAAAAATTTTTCTTAAATACAGACCGAGCGCTGTGGCTCATTCCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGTGGATCCCGAAGTCAGGAGTTGAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGACGTGGTGGCACACGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAAGAGAATTGTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGAACACGCCACAGCACTCCAGCCTGGACAACAGAGCAAGACTCCATCTCAAAAACAAAAAACAAAAACAAAAAAAACAGGGTATCCCAGCTGGGCACAGTGGCTCACGCCTGTAACCCTTGCATTTTGGCAGGCCGAGGAGGGTGGATCACCTGAGGTTAGGAGTTCAAGACCAGTCAGGCCAATAGAGTGAAACCCTGTCTCTACTAAAAAAAAATAGAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTATAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATCGCACTCCAGCCTGGCGACAGAGCGAGACTCCAGCTCAAAAAAAAAAAAGAAGAAAAAAAGAAAGACAGGGTCTGCGTCTGTTGCCCAGACCAGAGTGCAGTGGTGTGGTCATAGCTCACTGCACCCTTGACATCCCAGGCTCAAGTGATTCTCCTGCCTCAGCAGCTGGGACTACCGGCACACATCACCATCCCTGGCTAATTTTTTAATTTTTTGTGGTGATGGCCTCACTATGTTGCCCAGGCTGCTCTTGAACTACTGGCCTCAAGTGATCCTTATACCAGGGCCTCCTTGCAAAGTGCTGGATGACAGGCATAAGCCACCATGCCCGGCGCCCCCCCCACCGAAGCTGCCTGTTCCTTGAGCACGATGTGTAGCAAGGGGAGATGGAGTGAGAGTAGCACCATAGAGAAGGGACAGGATTGCCACCCCGAGCTGTGTGACGTTAGGCCAGACCCCTCTTCTCCTAGCGAGGTCAACCACACGGGTGATTTTGGGAGCCCGTATCCGCTCACACAGGCTGAATTTTAGCTTCATAGGTGGAAGGGAATCTGTGAGGGTGTAGAGATGCTGGGAGCACCTTTTTCCTGGGAGAGCTTTCCAAACAGGGAACAAACAGAGCCACCCTGGGCCCCGCTGAGAGGATCCTACCAGAAGCCCTCACCACTGTCTTGCTCCACGCTGGTGGTGACGGTGATGTCATCGATGTAGGTGGTGGGTGTCGTGTACAGAAGTACAGACCGCTGCAGTCCAGCGTAGTTGAAAAAGTCAAAATATGTGTTCTGGACAAAGTAACCCTTGGGATACCTAGGATGGGAGGACTGTGGTTTGCTGGGCCCTTGCTCTGGGTCCCCTGACCTCAGCTCACAGGCCTCCCTGGCCTCCCCAGATCCAAGGCCTCCACTCTGTGAAGGCCACCCAGTCCCTACCAGGAAGACCACAGGGTGGGGCGGGAAGGTGGGTGTGTGCAATGGAGGCAGGATGGTACCCACTTGGAGGTGTCAGTCAGGTATTGGATGGTCCCTGGTGGCAGGGTGGTGGGGGTGAGTGTGTTGTTGATGGCGATAGTGATTCGGAGCCGGGAGGGCAGGGGCCCCACCTGGACCAGGTTGCTGATGTCGGCCTCGAAGGGGAGGTAGCCCCCCTCATGCTCTAGCGTGTCGACCCCATTCACCCACTGCAGACACAGGAGATACGGGGAGGGGGCTGCAGGTCAGGGCATGAGGAGGCGCCCTACTATCGGGCACTCCCTCACATAACCTGCAGCATGGGGCTCCGGGGCCTTCCAGCCAGACGGGAAGAATGACATCCCAATGGGGTAGATCAGGCTACCTATCCCCCTATACAGGGCACAGCCCCCAGGGCAGGGCAGGGCAGGACCCCCCACCATCCCACCCCAGCATACATGCCGTGGGTGGCAGCTGGAGGTCCCATGCTGTTCAGCAGCCGTGCCCCCCCACCCGCCCTGCCTGCTCCTGGCCGCACTGACCACGATGGCATAGGAATGGGCACTGCCAATCCTCAGCACCACTCTTGTGCGCAGGTCCTGGGTCCATCGCTCCGGCAGGATCACCTCCCGTTCGTACCACACCCAGCCGACAAAATGCCGCAGACGCCAGTCCTGGCTGATGTCATTGAAGCTGGAGGGAACTGGCATGTCCACGGTGGGGCCTGACTGTGGAGAGAAGAGCCGGGCTCAGCTCCTAGGCCCCCAAAAGGGTCCAGGACCAGTGTGCTGCACGGCTGTGCCCCCAGGCCTAGCACAAGCCCTGACACATAGCGGGGATTCTTGGCAGAAAGGACAGATAACTTGCTGATGACAGGTCAACTGCCAGGGCGATCTGTGCACCTGGGCCAGTGGGGCCAGGAGTTCCTCCTCAGAGTGGATGGGGCACAATATCTCCTGAGACAGGAGCAAGCCCAGGGCCACATCCCAGCCAGAGGCAAGAAGGTTCAGACCTGTGACTAAGAGGCAGATGGCCACTGCCTGTCACAGGGAGGAAGGCTGGTTGGAGGAATGGGGGGAGCTTTGCTTAGGACACTGTGAGTGGGGTGCACACTGGCACCCAGCCCCCTCCTCTTTCCCTCCTGTACTGAATGCTGCAAAGTCAGAATAAGAGGATGTAGACCAGGCAAAAGCCGCCCAGACCTCACCCAGTTCCACTTCTCTGCAGATCACATCCAAGTCAGGAGGGGAACAGGGGTGGCGTCCTGGGCCTGATGTCATGTCCTGTCCTCTATGTGAACCTTGAAAACCAAGGGACTTCCTGCCTCGGCAGAGCTGACCTCAGGACATCTAAACTGTCACCTTCTCCCGATCCCCGGGCCCAGCTCTGTGCAGTGCATGCCGCTGTGGCCAGAGTGTGTGGGTGGCTCATGCCAGTAATCAGCGCTTTGGGAGGTCAACGTGGGAGGATGGCTTGAGGCCAGGAGTTCGAGACCACCCTGGGTAAATAGTGACACCCTGTATCTTTTTTTTTTTTTTAAGTTTTTTTGCCTTTTTTTTTTTTTTGGAGACGTAGTCTCACTATGTCGCCCAAGTTGGAGTGCAGTGGCATCCTGATCTCAGCTCACTGCAACCTCTACTCCCGGGTTCAAGCAATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGAACCACCACACTTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCCTGTTATGTTGGCCAGCCTGGTCTCAAACTCCTGGCCTCAGGCGATTCGCCCGCCTCCACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGAGCCCAGATAATTTTTTTTTTTTCAATTAGCCAGGCGTGTTGGCACCCCCTAAATTGCAAGGCTGGGGCGGGAGAATCGCTTGAGCTCAGAAGTTAGGCTGGCGCCACTCCGCCCCAGCCTGGGAAACAGGTGCAAACCCAGTCTCAAAAAAATTTTTAAAAATTAAAAATAAATATTGAAAGGAAGGATACTGCACAGACTCAGCCTTTACCTCGGGAAAGGGCTCGGCAAGAGCCTTTTCTCCTCCTGCCTAATCCGCCCCGGCCCTCCAGGGTGCTCCTGTTCCCCCGTCCCCCA
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GTCAATAATCTCACCACTGCACTCCAGCCTGGGCCACAGTGCAAGCCTCATCTCAGAAAAAGAAAAAGATATATATATATTTTTTTATTTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGATCCCCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGCCCTGAAAAAGATATATTTTTAAAAAGAAAAAAAACTTAAAACAAAAATTTTTCTTAAATACAGACCGAGCGCTGTGGCTCATTCCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGTGGATCCCGAAGTCAGGAGTTGAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGACGTGGTGGCACACGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAAGAGAATTGTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGAACACGCCACAGCACTCCAGCCTGGACAACAGAGCAAGACTCCATCTCAAAAACAAAAAACAAAAACAAAAAAAACAGGGTATCCCAGCTGGGCACAGTGGCTCACGCCTGTAACCCTTGCATTTTGGCAGGCCGAGGAGGGTGGATCACCTGAGGTTAGGAGTTCAAGACCAGTCAGGCCAATAGAGTGAAACCCTGTCTCTACTAAAAAAAAATAGAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTATAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATCGCACTCCAGCCTGGCGACAGAGCGAGACTCCAGCTCAAAAAAAAAAAAGAAGAAAAAAAGAAAGACAGGGTCTGCGTCTGTTGCCCAGACCAGAGTGCAGTGGTGTGGTCATAGCTCACTGCACCCTTGACATCCCAGGCTCAAGTGATTCTCCTGCCTCAGCAGCTGGGACTACCGGCACACATCACCATCCCTGGCTAATTTTTTAATTTTTTGTGGTGATGGCCTCACTATGTTGCCCAGGCTGCTCTTGAACTACTGGCCTCAAGTGATCCTTATACCAGGGCCTCCTTGCAAAGTGCTGGATGACAGGCATAAGCCACCATGCCCGGCGCCCCCCCCACCGAAGCTGCCTGTTCCTTGAGCACGATGTGTAGCAAGGGGAGATGGAGTGAGAGTAGCACCATAGAGAAGGGACAGGATTGCCACCCCGAGCTGTGTGACGTTAGGCCAGACCCCTCTTCTCCTAGCGAGGTCAACCACACGGGTGATTTTGGGAGCCCGTATCCGCTCACACAGGCTGAATTTTAGCTTCATAGGTGGAAGGGAATCTGTGAGGGTGTAGAGATGCTGGGAGCACCTTTTTCCTGGGAGAGCTTTCCAAACAGGGAACAAACAGAGCCACCCTGGGCCCCGCTGAGAGGATCCTACCAGAAGCCCTCACCACTGTCTTGCTCCACGCTGGTGGTGACGGTGATGTCATCGATGTAGGTGGTGGGTGTCGTGTACAGAAGTACAGACCGCTGCAGTCCAGCGTAGTTGAAAAAGTCAAAATATGTGTTCTGGACAAAGTAACCCTTGGGATACCTAGGATGGGAGGACTGTGGTTTGCTGGGCCCTTGCTCTGGGTCCCCTGACCTCAGCTCACAGGCCTCCCTGGCCTCCCCAGATCCAAGGCCTCCACTCTGTGAAGGCCACCCAGTCCCTACCAGGAAGACCACAGGGTGGGGCGGGAAGGTGGGTGTGTGCAATGGAGGCAGGATGGTACCCACTTGGAGGTGTCAGTCAGGTATTGGATGGTCCCTGGTGGCAGGGTGGTGGGGATGAGTGTGTTGTTGATGGCGATAGTGATTCGGAGCCGGGAGGGCAGGGGCCCCACCTGGACCAGGTTGCTGATGTCGGCCTCGAAGGGGAGGTAGCCCCCCTCATGCTCTAGCGTGTCGACCCCATTCACCCACTGCAGACACAGGAGATACGGGGAGGGGGCTGCAGGTCAGGGCATGAGGAGGCGCCCTACTATCGGGCACTCCCTCACATAACCTGCAGCATGGGGCTCCGGGGCCTTCCAGCCAGACGGGAAGAATGACATCCCAATGGGGTAGATCAGGCTACCTATCCCCCTATACAGGGCACAGCCCCCAGGGCAGGGCAGGGCAGGACCCCCCACCATCCCACCCCAGCATACATGCCGTGGGTGGCAGCTGGAGGTCCCATGCTGTTCAGCAGCCGTGCCCCCCCACCCGCCCTGCCTGCTCCTGGCCGCACTGACCACGATGGCATAGGAATGGGCACTGCCAATCCTCAGCACCACTCTTGTGCGCAGGTCCTGGGTCCATCGCTCCGGCAGGATCACCTCCCGTTCGTACCACACCCAGCCGACAAAATGCCGCAGACGCCAGTCCTGGCTGATGTCATTGAAGCTGGAGGGAACTGGCATGTCCACGGTGGGGCCTGACTGTGGAGAGAAGAGCCGGGCTCAGCTCCTAGGCCCCCAAAAGGGTCCAGGACCAGTGTGCTGCACGGCTGTGCCCCCAGGCCTAGCACAAGCCCTGACACATAGCGGGGATTCTTGGCAGAAAGGACAGATAACTTGCTGATGACAGGTCAACTGCCAGGGCGATCTGTGCACCTGGGCCAGTGGGGCCAGGAGTTCCTCCTCAGAGTGGATGGGGCACAATATCTCCTGAGACAGGAGCAAGCCCAGGGCCACATCCCAGCCAGAGGCAAGAAGGTTCAGACCTGTGACTAAGAGGCAGATGGCCACTGCCTGTCACAGGGAGGAAGGCTGGTTGGAGGAATGGGGGGAGCTTTGCTTAGGACACTGTGAGTGGGGTGCACACTGGCACCCAGCCCCCTCCTCTTTCCCTCCTGTACTGAATGCTGCAAAGTCAGAATAAGAGGATGTAGACCAGGCAAAAGCCGCCCAGACCTCACCCAGTTCCACTTCTCTGCAGATCACATCCAAGTCAGGAGGGGAACAGGGGTGGCGTCCTGGGCCTGATGTCATGTCCTGTCCTCTATGTGAACCTTGAAAACCAAGGGACTTCCTGCCTCGGCAGAGCTGACCTCAGGACATCTAAACTGTCACCTTCTCCCGATCCCCGGGCCCAGCTCTGTGCAGTGCATGCCGCTGTGGCCAGAGTGTGTGGGTGGCTCATGCCAGTAATCAGCGCTTTGGGAGGTCAACGTGGGAGGATGGCTTGAGGCCAGGAGTTCGAGACCACCCTGGGTAAATAGTGACACCCTGTATCTTTTTTTTTTTTTTAAGTTTTTTTGCCTTTTTTTTTTTTTTGGAGACGTAGTCTCACTATGTCGCCCAAGTTGGAGTGCAGTGGCATCCTGATCTCAGCTCACTGCAACCTCTACTCCCGGGTTCAAGCAATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGAACCACCACACTTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCCTGTTATGTTGGCCAGCCTGGTCTCAAACTCCTGGCCTCAGGCGATTCGCCCGCCTCCACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGAGCCCAGATAATTTTTTTTTTTTCAATTAGCCAGGCGTGTTGGCACCCCCTAAATTGCAAGGCTGGGGCGGGAGAATCGCTTGAGCTCAGAAGTTAGGCTGGCGCCACTCCGCCCCAGCCTGGGAAACAGGTGCAAACCCAGTCTCAAAAAAATTTTTAAAAATTAAAAATAAATATTGAAAGGAAGGATACTGCACAGACTCAGCCTTTACCTCGGGAAAGGGCTCGGCAAGAGCCTTTTCTCCTCCTGCCTAATCCGCCCCGGCCCTCCAGGGTGCTCCTGTTCCCCCGTCCCCCA
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Task1_train_11207
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This is a variant in GUSB (glucuronidase beta), located on Chromosome 7. Is this mutation a likely cause of disease or not?
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Pathogenic; Mucopolysaccharidosis type 6
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ATAATCTCACCACTGCACTCCAGCCTGGGCCACAGTGCAAGCCTCATCTCAGAAAAAGAAAAAGATATATATATATTTTTTTATTTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGATCCCCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGCCCTGAAAAAGATATATTTTTAAAAAGAAAAAAAACTTAAAACAAAAATTTTTCTTAAATACAGACCGAGCGCTGTGGCTCATTCCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGTGGATCCCGAAGTCAGGAGTTGAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGACGTGGTGGCACACGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAAGAGAATTGTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGAACACGCCACAGCACTCCAGCCTGGACAACAGAGCAAGACTCCATCTCAAAAACAAAAAACAAAAACAAAAAAAACAGGGTATCCCAGCTGGGCACAGTGGCTCACGCCTGTAACCCTTGCATTTTGGCAGGCCGAGGAGGGTGGATCACCTGAGGTTAGGAGTTCAAGACCAGTCAGGCCAATAGAGTGAAACCCTGTCTCTACTAAAAAAAAATAGAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTATAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATCGCACTCCAGCCTGGCGACAGAGCGAGACTCCAGCTCAAAAAAAAAAAAGAAGAAAAAAAGAAAGACAGGGTCTGCGTCTGTTGCCCAGACCAGAGTGCAGTGGTGTGGTCATAGCTCACTGCACCCTTGACATCCCAGGCTCAAGTGATTCTCCTGCCTCAGCAGCTGGGACTACCGGCACACATCACCATCCCTGGCTAATTTTTTAATTTTTTGTGGTGATGGCCTCACTATGTTGCCCAGGCTGCTCTTGAACTACTGGCCTCAAGTGATCCTTATACCAGGGCCTCCTTGCAAAGTGCTGGATGACAGGCATAAGCCACCATGCCCGGCGCCCCCCCCACCGAAGCTGCCTGTTCCTTGAGCACGATGTGTAGCAAGGGGAGATGGAGTGAGAGTAGCACCATAGAGAAGGGACAGGATTGCCACCCCGAGCTGTGTGACGTTAGGCCAGACCCCTCTTCTCCTAGCGAGGTCAACCACACGGGTGATTTTGGGAGCCCGTATCCGCTCACACAGGCTGAATTTTAGCTTCATAGGTGGAAGGGAATCTGTGAGGGTGTAGAGATGCTGGGAGCACCTTTTTCCTGGGAGAGCTTTCCAAACAGGGAACAAACAGAGCCACCCTGGGCCCCGCTGAGAGGATCCTACCAGAAGCCCTCACCACTGTCTTGCTCCACGCTGGTGGTGACGGTGATGTCATCGATGTAGGTGGTGGGTGTCGTGTACAGAAGTACAGACCGCTGCAGTCCAGCGTAGTTGAAAAAGTCAAAATATGTGTTCTGGACAAAGTAACCCTTGGGATACCTAGGATGGGAGGACTGTGGTTTGCTGGGCCCTTGCTCTGGGTCCCCTGACCTCAGCTCACAGGCCTCCCTGGCCTCCCCAGATCCAAGGCCTCCACTCTGTGAAGGCCACCCAGTCCCTACCAGGAAGACCACAGGGTGGGGCGGGAAGGTGGGTGTGTGCAATGGAGGCAGGATGGTACCCACTTGGAGGTGTCAGTCAGGTATTGGATGGTCCCTGGTGGCAGGGTGGTGGGGGTGAGTGTGTTGTTGATGGCGATAGTGATTCGGAGCCGGGAGGGCAGGGGCCCCACCTGGACCAGGTTGCTGATGTCGGCCTCGAAGGGGAGGTAGCCCCCCTCATGCTCTAGCGTGTCGACCCCATTCACCCACTGCAGACACAGGAGATACGGGGAGGGGGCTGCAGGTCAGGGCATGAGGAGGCGCCCTACTATCGGGCACTCCCTCACATAACCTGCAGCATGGGGCTCCGGGGCCTTCCAGCCAGACGGGAAGAATGACATCCCAATGGGGTAGATCAGGCTACCTATCCCCCTATACAGGGCACAGCCCCCAGGGCAGGGCAGGGCAGGACCCCCCACCATCCCACCCCAGCATACATGCCGTGGGTGGCAGCTGGAGGTCCCATGCTGTTCAGCAGCCGTGCCCCCCCACCCGCCCTGCCTGCTCCTGGCCGCACTGACCACGATGGCATAGGAATGGGCACTGCCAATCCTCAGCACCACTCTTGTGCGCAGGTCCTGGGTCCATCGCTCCGGCAGGATCACCTCCCGTTCGTACCACACCCAGCCGACAAAATGCCGCAGACGCCAGTCCTGGCTGATGTCATTGAAGCTGGAGGGAACTGGCATGTCCACGGTGGGGCCTGACTGTGGAGAGAAGAGCCGGGCTCAGCTCCTAGGCCCCCAAAAGGGTCCAGGACCAGTGTGCTGCACGGCTGTGCCCCCAGGCCTAGCACAAGCCCTGACACATAGCGGGGATTCTTGGCAGAAAGGACAGATAACTTGCTGATGACAGGTCAACTGCCAGGGCGATCTGTGCACCTGGGCCAGTGGGGCCAGGAGTTCCTCCTCAGAGTGGATGGGGCACAATATCTCCTGAGACAGGAGCAAGCCCAGGGCCACATCCCAGCCAGAGGCAAGAAGGTTCAGACCTGTGACTAAGAGGCAGATGGCCACTGCCTGTCACAGGGAGGAAGGCTGGTTGGAGGAATGGGGGGAGCTTTGCTTAGGACACTGTGAGTGGGGTGCACACTGGCACCCAGCCCCCTCCTCTTTCCCTCCTGTACTGAATGCTGCAAAGTCAGAATAAGAGGATGTAGACCAGGCAAAAGCCGCCCAGACCTCACCCAGTTCCACTTCTCTGCAGATCACATCCAAGTCAGGAGGGGAACAGGGGTGGCGTCCTGGGCCTGATGTCATGTCCTGTCCTCTATGTGAACCTTGAAAACCAAGGGACTTCCTGCCTCGGCAGAGCTGACCTCAGGACATCTAAACTGTCACCTTCTCCCGATCCCCGGGCCCAGCTCTGTGCAGTGCATGCCGCTGTGGCCAGAGTGTGTGGGTGGCTCATGCCAGTAATCAGCGCTTTGGGAGGTCAACGTGGGAGGATGGCTTGAGGCCAGGAGTTCGAGACCACCCTGGGTAAATAGTGACACCCTGTATCTTTTTTTTTTTTTTAAGTTTTTTTGCCTTTTTTTTTTTTTTGGAGACGTAGTCTCACTATGTCGCCCAAGTTGGAGTGCAGTGGCATCCTGATCTCAGCTCACTGCAACCTCTACTCCCGGGTTCAAGCAATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGAACCACCACACTTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCCTGTTATGTTGGCCAGCCTGGTCTCAAACTCCTGGCCTCAGGCGATTCGCCCGCCTCCACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGAGCCCAGATAATTTTTTTTTTTTCAATTAGCCAGGCGTGTTGGCACCCCCTAAATTGCAAGGCTGGGGCGGGAGAATCGCTTGAGCTCAGAAGTTAGGCTGGCGCCACTCCGCCCCAGCCTGGGAAACAGGTGCAAACCCAGTCTCAAAAAAATTTTTAAAAATTAAAAATAAATATTGAAAGGAAGGATACTGCACAGACTCAGCCTTTACCTCGGGAAAGGGCTCGGCAAGAGCCTTTTCTCCTCCTGCCTAATCCGCCCCGGCCCTCCAGGGTGCTCCTGTTCCCCCGTCCCCCAAGCC
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ATAATCTCACCACTGCACTCCAGCCTGGGCCACAGTGCAAGCCTCATCTCAGAAAAAGAAAAAGATATATATATATTTTTTTATTTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGATCCCCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGCCCTGAAAAAGATATATTTTTAAAAAGAAAAAAAACTTAAAACAAAAATTTTTCTTAAATACAGACCGAGCGCTGTGGCTCATTCCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGTGGATCCCGAAGTCAGGAGTTGAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGACGTGGTGGCACACGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAAGAGAATTGTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGAACACGCCACAGCACTCCAGCCTGGACAACAGAGCAAGACTCCATCTCAAAAACAAAAAACAAAAACAAAAAAAACAGGGTATCCCAGCTGGGCACAGTGGCTCACGCCTGTAACCCTTGCATTTTGGCAGGCCGAGGAGGGTGGATCACCTGAGGTTAGGAGTTCAAGACCAGTCAGGCCAATAGAGTGAAACCCTGTCTCTACTAAAAAAAAATAGAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTATAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATCGCACTCCAGCCTGGCGACAGAGCGAGACTCCAGCTCAAAAAAAAAAAAGAAGAAAAAAAGAAAGACAGGGTCTGCGTCTGTTGCCCAGACCAGAGTGCAGTGGTGTGGTCATAGCTCACTGCACCCTTGACATCCCAGGCTCAAGTGATTCTCCTGCCTCAGCAGCTGGGACTACCGGCACACATCACCATCCCTGGCTAATTTTTTAATTTTTTGTGGTGATGGCCTCACTATGTTGCCCAGGCTGCTCTTGAACTACTGGCCTCAAGTGATCCTTATACCAGGGCCTCCTTGCAAAGTGCTGGATGACAGGCATAAGCCACCATGCCCGGCGCCCCCCCCACCGAAGCTGCCTGTTCCTTGAGCACGATGTGTAGCAAGGGGAGATGGAGTGAGAGTAGCACCATAGAGAAGGGACAGGATTGCCACCCCGAGCTGTGTGACGTTAGGCCAGACCCCTCTTCTCCTAGCGAGGTCAACCACACGGGTGATTTTGGGAGCCCGTATCCGCTCACACAGGCTGAATTTTAGCTTCATAGGTGGAAGGGAATCTGTGAGGGTGTAGAGATGCTGGGAGCACCTTTTTCCTGGGAGAGCTTTCCAAACAGGGAACAAACAGAGCCACCCTGGGCCCCGCTGAGAGGATCCTACCAGAAGCCCTCACCACTGTCTTGCTCCACGCTGGTGGTGACGGTGATGTCATCGATGTAGGTGGTGGGTGTCGTGTACAGAAGTACAGACCGCTGCAGTCCAGCGTAGTTGAAAAAGTCAAAATATGTGTTCTGGACAAAGTAACCCTTGGGATACCTAGGATGGGAGGACTGTGGTTTGCTGGGCCCTTGCTCTGGGTCCCCTGACCTCAGCTCACAGGCCTCCCTGGCCTCCCCAGATCCAAGGCCTCCACTCTGTGAAGGCCACCCAGTCCCTACCAGGAAGACCACAGGGTGGGGCGGGAAGGTGGGTGTGTGCAATGGAGGCAGGATGGTACCCACTTGGAGGTGTCAGTCAGGTATTGGATGGTCCCTGGTGGCAGGGTGGTGGGGGTGAATGTGTTGTTGATGGCGATAGTGATTCGGAGCCGGGAGGGCAGGGGCCCCACCTGGACCAGGTTGCTGATGTCGGCCTCGAAGGGGAGGTAGCCCCCCTCATGCTCTAGCGTGTCGACCCCATTCACCCACTGCAGACACAGGAGATACGGGGAGGGGGCTGCAGGTCAGGGCATGAGGAGGCGCCCTACTATCGGGCACTCCCTCACATAACCTGCAGCATGGGGCTCCGGGGCCTTCCAGCCAGACGGGAAGAATGACATCCCAATGGGGTAGATCAGGCTACCTATCCCCCTATACAGGGCACAGCCCCCAGGGCAGGGCAGGGCAGGACCCCCCACCATCCCACCCCAGCATACATGCCGTGGGTGGCAGCTGGAGGTCCCATGCTGTTCAGCAGCCGTGCCCCCCCACCCGCCCTGCCTGCTCCTGGCCGCACTGACCACGATGGCATAGGAATGGGCACTGCCAATCCTCAGCACCACTCTTGTGCGCAGGTCCTGGGTCCATCGCTCCGGCAGGATCACCTCCCGTTCGTACCACACCCAGCCGACAAAATGCCGCAGACGCCAGTCCTGGCTGATGTCATTGAAGCTGGAGGGAACTGGCATGTCCACGGTGGGGCCTGACTGTGGAGAGAAGAGCCGGGCTCAGCTCCTAGGCCCCCAAAAGGGTCCAGGACCAGTGTGCTGCACGGCTGTGCCCCCAGGCCTAGCACAAGCCCTGACACATAGCGGGGATTCTTGGCAGAAAGGACAGATAACTTGCTGATGACAGGTCAACTGCCAGGGCGATCTGTGCACCTGGGCCAGTGGGGCCAGGAGTTCCTCCTCAGAGTGGATGGGGCACAATATCTCCTGAGACAGGAGCAAGCCCAGGGCCACATCCCAGCCAGAGGCAAGAAGGTTCAGACCTGTGACTAAGAGGCAGATGGCCACTGCCTGTCACAGGGAGGAAGGCTGGTTGGAGGAATGGGGGGAGCTTTGCTTAGGACACTGTGAGTGGGGTGCACACTGGCACCCAGCCCCCTCCTCTTTCCCTCCTGTACTGAATGCTGCAAAGTCAGAATAAGAGGATGTAGACCAGGCAAAAGCCGCCCAGACCTCACCCAGTTCCACTTCTCTGCAGATCACATCCAAGTCAGGAGGGGAACAGGGGTGGCGTCCTGGGCCTGATGTCATGTCCTGTCCTCTATGTGAACCTTGAAAACCAAGGGACTTCCTGCCTCGGCAGAGCTGACCTCAGGACATCTAAACTGTCACCTTCTCCCGATCCCCGGGCCCAGCTCTGTGCAGTGCATGCCGCTGTGGCCAGAGTGTGTGGGTGGCTCATGCCAGTAATCAGCGCTTTGGGAGGTCAACGTGGGAGGATGGCTTGAGGCCAGGAGTTCGAGACCACCCTGGGTAAATAGTGACACCCTGTATCTTTTTTTTTTTTTTAAGTTTTTTTGCCTTTTTTTTTTTTTTGGAGACGTAGTCTCACTATGTCGCCCAAGTTGGAGTGCAGTGGCATCCTGATCTCAGCTCACTGCAACCTCTACTCCCGGGTTCAAGCAATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGAACCACCACACTTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCCTGTTATGTTGGCCAGCCTGGTCTCAAACTCCTGGCCTCAGGCGATTCGCCCGCCTCCACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGAGCCCAGATAATTTTTTTTTTTTCAATTAGCCAGGCGTGTTGGCACCCCCTAAATTGCAAGGCTGGGGCGGGAGAATCGCTTGAGCTCAGAAGTTAGGCTGGCGCCACTCCGCCCCAGCCTGGGAAACAGGTGCAAACCCAGTCTCAAAAAAATTTTTAAAAATTAAAAATAAATATTGAAAGGAAGGATACTGCACAGACTCAGCCTTTACCTCGGGAAAGGGCTCGGCAAGAGCCTTTTCTCCTCCTGCCTAATCCGCCCCGGCCCTCCAGGGTGCTCCTGTTCCCCCGTCCCCCAAGCC
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Task1_train_11208
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Chromosome 7 houses a mutation in gene GUSB (glucuronidase beta). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Mucopolysaccharidosis type 7
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ATAATCTCACCACTGCACTCCAGCCTGGGCCACAGTGCAAGCCTCATCTCAGAAAAAGAAAAAGATATATATATATTTTTTTATTTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGATCCCCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGCCCTGAAAAAGATATATTTTTAAAAAGAAAAAAAACTTAAAACAAAAATTTTTCTTAAATACAGACCGAGCGCTGTGGCTCATTCCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGTGGATCCCGAAGTCAGGAGTTGAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGACGTGGTGGCACACGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAAGAGAATTGTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGAACACGCCACAGCACTCCAGCCTGGACAACAGAGCAAGACTCCATCTCAAAAACAAAAAACAAAAACAAAAAAAACAGGGTATCCCAGCTGGGCACAGTGGCTCACGCCTGTAACCCTTGCATTTTGGCAGGCCGAGGAGGGTGGATCACCTGAGGTTAGGAGTTCAAGACCAGTCAGGCCAATAGAGTGAAACCCTGTCTCTACTAAAAAAAAATAGAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTATAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATCGCACTCCAGCCTGGCGACAGAGCGAGACTCCAGCTCAAAAAAAAAAAAGAAGAAAAAAAGAAAGACAGGGTCTGCGTCTGTTGCCCAGACCAGAGTGCAGTGGTGTGGTCATAGCTCACTGCACCCTTGACATCCCAGGCTCAAGTGATTCTCCTGCCTCAGCAGCTGGGACTACCGGCACACATCACCATCCCTGGCTAATTTTTTAATTTTTTGTGGTGATGGCCTCACTATGTTGCCCAGGCTGCTCTTGAACTACTGGCCTCAAGTGATCCTTATACCAGGGCCTCCTTGCAAAGTGCTGGATGACAGGCATAAGCCACCATGCCCGGCGCCCCCCCCACCGAAGCTGCCTGTTCCTTGAGCACGATGTGTAGCAAGGGGAGATGGAGTGAGAGTAGCACCATAGAGAAGGGACAGGATTGCCACCCCGAGCTGTGTGACGTTAGGCCAGACCCCTCTTCTCCTAGCGAGGTCAACCACACGGGTGATTTTGGGAGCCCGTATCCGCTCACACAGGCTGAATTTTAGCTTCATAGGTGGAAGGGAATCTGTGAGGGTGTAGAGATGCTGGGAGCACCTTTTTCCTGGGAGAGCTTTCCAAACAGGGAACAAACAGAGCCACCCTGGGCCCCGCTGAGAGGATCCTACCAGAAGCCCTCACCACTGTCTTGCTCCACGCTGGTGGTGACGGTGATGTCATCGATGTAGGTGGTGGGTGTCGTGTACAGAAGTACAGACCGCTGCAGTCCAGCGTAGTTGAAAAAGTCAAAATATGTGTTCTGGACAAAGTAACCCTTGGGATACCTAGGATGGGAGGACTGTGGTTTGCTGGGCCCTTGCTCTGGGTCCCCTGACCTCAGCTCACAGGCCTCCCTGGCCTCCCCAGATCCAAGGCCTCCACTCTGTGAAGGCCACCCAGTCCCTACCAGGAAGACCACAGGGTGGGGCGGGAAGGTGGGTGTGTGCAATGGAGGCAGGATGGTACCCACTTGGAGGTGTCAGTCAGGTATTGGATGGTCCCTGGTGGCAGGGTGGTGGGGGTGAGTGTGTTGTTGATGGCGATAGTGATTCGGAGCCGGGAGGGCAGGGGCCCCACCTGGACCAGGTTGCTGATGTCGGCCTCGAAGGGGAGGTAGCCCCCCTCATGCTCTAGCGTGTCGACCCCATTCACCCACTGCAGACACAGGAGATACGGGGAGGGGGCTGCAGGTCAGGGCATGAGGAGGCGCCCTACTATCGGGCACTCCCTCACATAACCTGCAGCATGGGGCTCCGGGGCCTTCCAGCCAGACGGGAAGAATGACATCCCAATGGGGTAGATCAGGCTACCTATCCCCCTATACAGGGCACAGCCCCCAGGGCAGGGCAGGGCAGGACCCCCCACCATCCCACCCCAGCATACATGCCGTGGGTGGCAGCTGGAGGTCCCATGCTGTTCAGCAGCCGTGCCCCCCCACCCGCCCTGCCTGCTCCTGGCCGCACTGACCACGATGGCATAGGAATGGGCACTGCCAATCCTCAGCACCACTCTTGTGCGCAGGTCCTGGGTCCATCGCTCCGGCAGGATCACCTCCCGTTCGTACCACACCCAGCCGACAAAATGCCGCAGACGCCAGTCCTGGCTGATGTCATTGAAGCTGGAGGGAACTGGCATGTCCACGGTGGGGCCTGACTGTGGAGAGAAGAGCCGGGCTCAGCTCCTAGGCCCCCAAAAGGGTCCAGGACCAGTGTGCTGCACGGCTGTGCCCCCAGGCCTAGCACAAGCCCTGACACATAGCGGGGATTCTTGGCAGAAAGGACAGATAACTTGCTGATGACAGGTCAACTGCCAGGGCGATCTGTGCACCTGGGCCAGTGGGGCCAGGAGTTCCTCCTCAGAGTGGATGGGGCACAATATCTCCTGAGACAGGAGCAAGCCCAGGGCCACATCCCAGCCAGAGGCAAGAAGGTTCAGACCTGTGACTAAGAGGCAGATGGCCACTGCCTGTCACAGGGAGGAAGGCTGGTTGGAGGAATGGGGGGAGCTTTGCTTAGGACACTGTGAGTGGGGTGCACACTGGCACCCAGCCCCCTCCTCTTTCCCTCCTGTACTGAATGCTGCAAAGTCAGAATAAGAGGATGTAGACCAGGCAAAAGCCGCCCAGACCTCACCCAGTTCCACTTCTCTGCAGATCACATCCAAGTCAGGAGGGGAACAGGGGTGGCGTCCTGGGCCTGATGTCATGTCCTGTCCTCTATGTGAACCTTGAAAACCAAGGGACTTCCTGCCTCGGCAGAGCTGACCTCAGGACATCTAAACTGTCACCTTCTCCCGATCCCCGGGCCCAGCTCTGTGCAGTGCATGCCGCTGTGGCCAGAGTGTGTGGGTGGCTCATGCCAGTAATCAGCGCTTTGGGAGGTCAACGTGGGAGGATGGCTTGAGGCCAGGAGTTCGAGACCACCCTGGGTAAATAGTGACACCCTGTATCTTTTTTTTTTTTTTAAGTTTTTTTGCCTTTTTTTTTTTTTTGGAGACGTAGTCTCACTATGTCGCCCAAGTTGGAGTGCAGTGGCATCCTGATCTCAGCTCACTGCAACCTCTACTCCCGGGTTCAAGCAATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGAACCACCACACTTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCCTGTTATGTTGGCCAGCCTGGTCTCAAACTCCTGGCCTCAGGCGATTCGCCCGCCTCCACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGAGCCCAGATAATTTTTTTTTTTTCAATTAGCCAGGCGTGTTGGCACCCCCTAAATTGCAAGGCTGGGGCGGGAGAATCGCTTGAGCTCAGAAGTTAGGCTGGCGCCACTCCGCCCCAGCCTGGGAAACAGGTGCAAACCCAGTCTCAAAAAAATTTTTAAAAATTAAAAATAAATATTGAAAGGAAGGATACTGCACAGACTCAGCCTTTACCTCGGGAAAGGGCTCGGCAAGAGCCTTTTCTCCTCCTGCCTAATCCGCCCCGGCCCTCCAGGGTGCTCCTGTTCCCCCGTCCCCCAAGCC
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ATAATCTCACCACTGCACTCCAGCCTGGGCCACAGTGCAAGCCTCATCTCAGAAAAAGAAAAAGATATATATATATTTTTTTATTTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGATCCCCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGCCCTGAAAAAGATATATTTTTAAAAAGAAAAAAAACTTAAAACAAAAATTTTTCTTAAATACAGACCGAGCGCTGTGGCTCATTCCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGTGGATCCCGAAGTCAGGAGTTGAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGACGTGGTGGCACACGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAAGAGAATTGTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGAACACGCCACAGCACTCCAGCCTGGACAACAGAGCAAGACTCCATCTCAAAAACAAAAAACAAAAACAAAAAAAACAGGGTATCCCAGCTGGGCACAGTGGCTCACGCCTGTAACCCTTGCATTTTGGCAGGCCGAGGAGGGTGGATCACCTGAGGTTAGGAGTTCAAGACCAGTCAGGCCAATAGAGTGAAACCCTGTCTCTACTAAAAAAAAATAGAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTATAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATCGCACTCCAGCCTGGCGACAGAGCGAGACTCCAGCTCAAAAAAAAAAAAGAAGAAAAAAAGAAAGACAGGGTCTGCGTCTGTTGCCCAGACCAGAGTGCAGTGGTGTGGTCATAGCTCACTGCACCCTTGACATCCCAGGCTCAAGTGATTCTCCTGCCTCAGCAGCTGGGACTACCGGCACACATCACCATCCCTGGCTAATTTTTTAATTTTTTGTGGTGATGGCCTCACTATGTTGCCCAGGCTGCTCTTGAACTACTGGCCTCAAGTGATCCTTATACCAGGGCCTCCTTGCAAAGTGCTGGATGACAGGCATAAGCCACCATGCCCGGCGCCCCCCCCACCGAAGCTGCCTGTTCCTTGAGCACGATGTGTAGCAAGGGGAGATGGAGTGAGAGTAGCACCATAGAGAAGGGACAGGATTGCCACCCCGAGCTGTGTGACGTTAGGCCAGACCCCTCTTCTCCTAGCGAGGTCAACCACACGGGTGATTTTGGGAGCCCGTATCCGCTCACACAGGCTGAATTTTAGCTTCATAGGTGGAAGGGAATCTGTGAGGGTGTAGAGATGCTGGGAGCACCTTTTTCCTGGGAGAGCTTTCCAAACAGGGAACAAACAGAGCCACCCTGGGCCCCGCTGAGAGGATCCTACCAGAAGCCCTCACCACTGTCTTGCTCCACGCTGGTGGTGACGGTGATGTCATCGATGTAGGTGGTGGGTGTCGTGTACAGAAGTACAGACCGCTGCAGTCCAGCGTAGTTGAAAAAGTCAAAATATGTGTTCTGGACAAAGTAACCCTTGGGATACCTAGGATGGGAGGACTGTGGTTTGCTGGGCCCTTGCTCTGGGTCCCCTGACCTCAGCTCACAGGCCTCCCTGGCCTCCCCAGATCCAAGGCCTCCACTCTGTGAAGGCCACCCAGTCCCTACCAGGAAGACCACAGGGTGGGGCGGGAAGGTGGGTGTGTGCAATGGAGGCAGGATGGTACCCACTTGGAGGTGTCAGTCAGGTATTGGATGGTCCCTGGTGGCAGGGTGGTGGGGGTGAATGTGTTGTTGATGGCGATAGTGATTCGGAGCCGGGAGGGCAGGGGCCCCACCTGGACCAGGTTGCTGATGTCGGCCTCGAAGGGGAGGTAGCCCCCCTCATGCTCTAGCGTGTCGACCCCATTCACCCACTGCAGACACAGGAGATACGGGGAGGGGGCTGCAGGTCAGGGCATGAGGAGGCGCCCTACTATCGGGCACTCCCTCACATAACCTGCAGCATGGGGCTCCGGGGCCTTCCAGCCAGACGGGAAGAATGACATCCCAATGGGGTAGATCAGGCTACCTATCCCCCTATACAGGGCACAGCCCCCAGGGCAGGGCAGGGCAGGACCCCCCACCATCCCACCCCAGCATACATGCCGTGGGTGGCAGCTGGAGGTCCCATGCTGTTCAGCAGCCGTGCCCCCCCACCCGCCCTGCCTGCTCCTGGCCGCACTGACCACGATGGCATAGGAATGGGCACTGCCAATCCTCAGCACCACTCTTGTGCGCAGGTCCTGGGTCCATCGCTCCGGCAGGATCACCTCCCGTTCGTACCACACCCAGCCGACAAAATGCCGCAGACGCCAGTCCTGGCTGATGTCATTGAAGCTGGAGGGAACTGGCATGTCCACGGTGGGGCCTGACTGTGGAGAGAAGAGCCGGGCTCAGCTCCTAGGCCCCCAAAAGGGTCCAGGACCAGTGTGCTGCACGGCTGTGCCCCCAGGCCTAGCACAAGCCCTGACACATAGCGGGGATTCTTGGCAGAAAGGACAGATAACTTGCTGATGACAGGTCAACTGCCAGGGCGATCTGTGCACCTGGGCCAGTGGGGCCAGGAGTTCCTCCTCAGAGTGGATGGGGCACAATATCTCCTGAGACAGGAGCAAGCCCAGGGCCACATCCCAGCCAGAGGCAAGAAGGTTCAGACCTGTGACTAAGAGGCAGATGGCCACTGCCTGTCACAGGGAGGAAGGCTGGTTGGAGGAATGGGGGGAGCTTTGCTTAGGACACTGTGAGTGGGGTGCACACTGGCACCCAGCCCCCTCCTCTTTCCCTCCTGTACTGAATGCTGCAAAGTCAGAATAAGAGGATGTAGACCAGGCAAAAGCCGCCCAGACCTCACCCAGTTCCACTTCTCTGCAGATCACATCCAAGTCAGGAGGGGAACAGGGGTGGCGTCCTGGGCCTGATGTCATGTCCTGTCCTCTATGTGAACCTTGAAAACCAAGGGACTTCCTGCCTCGGCAGAGCTGACCTCAGGACATCTAAACTGTCACCTTCTCCCGATCCCCGGGCCCAGCTCTGTGCAGTGCATGCCGCTGTGGCCAGAGTGTGTGGGTGGCTCATGCCAGTAATCAGCGCTTTGGGAGGTCAACGTGGGAGGATGGCTTGAGGCCAGGAGTTCGAGACCACCCTGGGTAAATAGTGACACCCTGTATCTTTTTTTTTTTTTTAAGTTTTTTTGCCTTTTTTTTTTTTTTGGAGACGTAGTCTCACTATGTCGCCCAAGTTGGAGTGCAGTGGCATCCTGATCTCAGCTCACTGCAACCTCTACTCCCGGGTTCAAGCAATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGAACCACCACACTTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCCTGTTATGTTGGCCAGCCTGGTCTCAAACTCCTGGCCTCAGGCGATTCGCCCGCCTCCACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGAGCCCAGATAATTTTTTTTTTTTCAATTAGCCAGGCGTGTTGGCACCCCCTAAATTGCAAGGCTGGGGCGGGAGAATCGCTTGAGCTCAGAAGTTAGGCTGGCGCCACTCCGCCCCAGCCTGGGAAACAGGTGCAAACCCAGTCTCAAAAAAATTTTTAAAAATTAAAAATAAATATTGAAAGGAAGGATACTGCACAGACTCAGCCTTTACCTCGGGAAAGGGCTCGGCAAGAGCCTTTTCTCCTCCTGCCTAATCCGCCCCGGCCCTCCAGGGTGCTCCTGTTCCCCCGTCCCCCAAGCC
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Task1_train_11209
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A genetic alteration is present in GUSB (glucuronidase beta) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Mucopolysaccharidosis type 7
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TTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGATCCCCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGCCCTGAAAAAGATATATTTTTAAAAAGAAAAAAAACTTAAAACAAAAATTTTTCTTAAATACAGACCGAGCGCTGTGGCTCATTCCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGTGGATCCCGAAGTCAGGAGTTGAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGACGTGGTGGCACACGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAAGAGAATTGTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGAACACGCCACAGCACTCCAGCCTGGACAACAGAGCAAGACTCCATCTCAAAAACAAAAAACAAAAACAAAAAAAACAGGGTATCCCAGCTGGGCACAGTGGCTCACGCCTGTAACCCTTGCATTTTGGCAGGCCGAGGAGGGTGGATCACCTGAGGTTAGGAGTTCAAGACCAGTCAGGCCAATAGAGTGAAACCCTGTCTCTACTAAAAAAAAATAGAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTATAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATCGCACTCCAGCCTGGCGACAGAGCGAGACTCCAGCTCAAAAAAAAAAAAGAAGAAAAAAAGAAAGACAGGGTCTGCGTCTGTTGCCCAGACCAGAGTGCAGTGGTGTGGTCATAGCTCACTGCACCCTTGACATCCCAGGCTCAAGTGATTCTCCTGCCTCAGCAGCTGGGACTACCGGCACACATCACCATCCCTGGCTAATTTTTTAATTTTTTGTGGTGATGGCCTCACTATGTTGCCCAGGCTGCTCTTGAACTACTGGCCTCAAGTGATCCTTATACCAGGGCCTCCTTGCAAAGTGCTGGATGACAGGCATAAGCCACCATGCCCGGCGCCCCCCCCACCGAAGCTGCCTGTTCCTTGAGCACGATGTGTAGCAAGGGGAGATGGAGTGAGAGTAGCACCATAGAGAAGGGACAGGATTGCCACCCCGAGCTGTGTGACGTTAGGCCAGACCCCTCTTCTCCTAGCGAGGTCAACCACACGGGTGATTTTGGGAGCCCGTATCCGCTCACACAGGCTGAATTTTAGCTTCATAGGTGGAAGGGAATCTGTGAGGGTGTAGAGATGCTGGGAGCACCTTTTTCCTGGGAGAGCTTTCCAAACAGGGAACAAACAGAGCCACCCTGGGCCCCGCTGAGAGGATCCTACCAGAAGCCCTCACCACTGTCTTGCTCCACGCTGGTGGTGACGGTGATGTCATCGATGTAGGTGGTGGGTGTCGTGTACAGAAGTACAGACCGCTGCAGTCCAGCGTAGTTGAAAAAGTCAAAATATGTGTTCTGGACAAAGTAACCCTTGGGATACCTAGGATGGGAGGACTGTGGTTTGCTGGGCCCTTGCTCTGGGTCCCCTGACCTCAGCTCACAGGCCTCCCTGGCCTCCCCAGATCCAAGGCCTCCACTCTGTGAAGGCCACCCAGTCCCTACCAGGAAGACCACAGGGTGGGGCGGGAAGGTGGGTGTGTGCAATGGAGGCAGGATGGTACCCACTTGGAGGTGTCAGTCAGGTATTGGATGGTCCCTGGTGGCAGGGTGGTGGGGGTGAGTGTGTTGTTGATGGCGATAGTGATTCGGAGCCGGGAGGGCAGGGGCCCCACCTGGACCAGGTTGCTGATGTCGGCCTCGAAGGGGAGGTAGCCCCCCTCATGCTCTAGCGTGTCGACCCCATTCACCCACTGCAGACACAGGAGATACGGGGAGGGGGCTGCAGGTCAGGGCATGAGGAGGCGCCCTACTATCGGGCACTCCCTCACATAACCTGCAGCATGGGGCTCCGGGGCCTTCCAGCCAGACGGGAAGAATGACATCCCAATGGGGTAGATCAGGCTACCTATCCCCCTATACAGGGCACAGCCCCCAGGGCAGGGCAGGGCAGGACCCCCCACCATCCCACCCCAGCATACATGCCGTGGGTGGCAGCTGGAGGTCCCATGCTGTTCAGCAGCCGTGCCCCCCCACCCGCCCTGCCTGCTCCTGGCCGCACTGACCACGATGGCATAGGAATGGGCACTGCCAATCCTCAGCACCACTCTTGTGCGCAGGTCCTGGGTCCATCGCTCCGGCAGGATCACCTCCCGTTCGTACCACACCCAGCCGACAAAATGCCGCAGACGCCAGTCCTGGCTGATGTCATTGAAGCTGGAGGGAACTGGCATGTCCACGGTGGGGCCTGACTGTGGAGAGAAGAGCCGGGCTCAGCTCCTAGGCCCCCAAAAGGGTCCAGGACCAGTGTGCTGCACGGCTGTGCCCCCAGGCCTAGCACAAGCCCTGACACATAGCGGGGATTCTTGGCAGAAAGGACAGATAACTTGCTGATGACAGGTCAACTGCCAGGGCGATCTGTGCACCTGGGCCAGTGGGGCCAGGAGTTCCTCCTCAGAGTGGATGGGGCACAATATCTCCTGAGACAGGAGCAAGCCCAGGGCCACATCCCAGCCAGAGGCAAGAAGGTTCAGACCTGTGACTAAGAGGCAGATGGCCACTGCCTGTCACAGGGAGGAAGGCTGGTTGGAGGAATGGGGGGAGCTTTGCTTAGGACACTGTGAGTGGGGTGCACACTGGCACCCAGCCCCCTCCTCTTTCCCTCCTGTACTGAATGCTGCAAAGTCAGAATAAGAGGATGTAGACCAGGCAAAAGCCGCCCAGACCTCACCCAGTTCCACTTCTCTGCAGATCACATCCAAGTCAGGAGGGGAACAGGGGTGGCGTCCTGGGCCTGATGTCATGTCCTGTCCTCTATGTGAACCTTGAAAACCAAGGGACTTCCTGCCTCGGCAGAGCTGACCTCAGGACATCTAAACTGTCACCTTCTCCCGATCCCCGGGCCCAGCTCTGTGCAGTGCATGCCGCTGTGGCCAGAGTGTGTGGGTGGCTCATGCCAGTAATCAGCGCTTTGGGAGGTCAACGTGGGAGGATGGCTTGAGGCCAGGAGTTCGAGACCACCCTGGGTAAATAGTGACACCCTGTATCTTTTTTTTTTTTTTAAGTTTTTTTGCCTTTTTTTTTTTTTTGGAGACGTAGTCTCACTATGTCGCCCAAGTTGGAGTGCAGTGGCATCCTGATCTCAGCTCACTGCAACCTCTACTCCCGGGTTCAAGCAATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGAACCACCACACTTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCCTGTTATGTTGGCCAGCCTGGTCTCAAACTCCTGGCCTCAGGCGATTCGCCCGCCTCCACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGAGCCCAGATAATTTTTTTTTTTTCAATTAGCCAGGCGTGTTGGCACCCCCTAAATTGCAAGGCTGGGGCGGGAGAATCGCTTGAGCTCAGAAGTTAGGCTGGCGCCACTCCGCCCCAGCCTGGGAAACAGGTGCAAACCCAGTCTCAAAAAAATTTTTAAAAATTAAAAATAAATATTGAAAGGAAGGATACTGCACAGACTCAGCCTTTACCTCGGGAAAGGGCTCGGCAAGAGCCTTTTCTCCTCCTGCCTAATCCGCCCCGGCCCTCCAGGGTGCTCCTGTTCCCCCGTCCCCCAAGCCGGCGCCCCCAAGCCCGTTGACCTTTAACCTCCTGCGGGCCCCAGCTCGGAGACGCCCAGGGGAAGAAGTCTGCGGGGGGCCCGG
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TTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGATCCCCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGCCCTGAAAAAGATATATTTTTAAAAAGAAAAAAAACTTAAAACAAAAATTTTTCTTAAATACAGACCGAGCGCTGTGGCTCATTCCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGTGGATCCCGAAGTCAGGAGTTGAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGACGTGGTGGCACACGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAAGAGAATTGTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGAACACGCCACAGCACTCCAGCCTGGACAACAGAGCAAGACTCCATCTCAAAAACAAAAAACAAAAACAAAAAAAACAGGGTATCCCAGCTGGGCACAGTGGCTCACGCCTGTAACCCTTGCATTTTGGCAGGCCGAGGAGGGTGGATCACCTGAGGTTAGGAGTTCAAGACCAGTCAGGCCAATAGAGTGAAACCCTGTCTCTACTAAAAAAAAATAGAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTATAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATCGCACTCCAGCCTGGCGACAGAGCGAGACTCCAGCTCAAAAAAAAAAAAGAAGAAAAAAAGAAAGACAGGGTCTGCGTCTGTTGCCCAGACCAGAGTGCAGTGGTGTGGTCATAGCTCACTGCACCCTTGACATCCCAGGCTCAAGTGATTCTCCTGCCTCAGCAGCTGGGACTACCGGCACACATCACCATCCCTGGCTAATTTTTTAATTTTTTGTGGTGATGGCCTCACTATGTTGCCCAGGCTGCTCTTGAACTACTGGCCTCAAGTGATCCTTATACCAGGGCCTCCTTGCAAAGTGCTGGATGACAGGCATAAGCCACCATGCCCGGCGCCCCCCCCACCGAAGCTGCCTGTTCCTTGAGCACGATGTGTAGCAAGGGGAGATGGAGTGAGAGTAGCACCATAGAGAAGGGACAGGATTGCCACCCCGAGCTGTGTGACGTTAGGCCAGACCCCTCTTCTCCTAGCGAGGTCAACCACACGGGTGATTTTGGGAGCCCGTATCCGCTCACACAGGCTGAATTTTAGCTTCATAGGTGGAAGGGAATCTGTGAGGGTGTAGAGATGCTGGGAGCACCTTTTTCCTGGGAGAGCTTTCCAAACAGGGAACAAACAGAGCCACCCTGGGCCCCGCTGAGAGGATCCTACCAGAAGCCCTCACCACTGTCTTGCTCCACGCTGGTGGTGACGGTGATGTCATCGATGTAGGTGGTGGGTGTCGTGTACAGAAGTACAGACCGCTGCAGTCCAGCGTAGTTGAAAAAGTCAAAATATGTGTTCTGGACAAAGTAACCCTTGGGATACCTAGGATGGGAGGACTGTGGTTTGCTGGGCCCTTGCTCTGGGTCCCCTGACCTCAGCTCACAGGCCTCCCTGGCCTCCCCAGATCCAAGGCCTCCACTCTGTGAAGGCCACCCAGTCCCTACCAGGAAGACCACAGGGTGGGGCGGGAAGGTGGGTGTGTGCAATGGAGGCAGGATGGTACCCACTTGGAGGTGTCAGTCAGGTATTGGATGGTCCCTGGTGGCAGGGTGGTGGGGGTGAGTGTGTTGTTGATGGCGATAGTGATTCGGAGCCGGGAGGGCAGGGGCCCCACCTGGACCAGGTTGCTGATGTCGGCCTCGAAGGAGAGGTAGCCCCCCTCATGCTCTAGCGTGTCGACCCCATTCACCCACTGCAGACACAGGAGATACGGGGAGGGGGCTGCAGGTCAGGGCATGAGGAGGCGCCCTACTATCGGGCACTCCCTCACATAACCTGCAGCATGGGGCTCCGGGGCCTTCCAGCCAGACGGGAAGAATGACATCCCAATGGGGTAGATCAGGCTACCTATCCCCCTATACAGGGCACAGCCCCCAGGGCAGGGCAGGGCAGGACCCCCCACCATCCCACCCCAGCATACATGCCGTGGGTGGCAGCTGGAGGTCCCATGCTGTTCAGCAGCCGTGCCCCCCCACCCGCCCTGCCTGCTCCTGGCCGCACTGACCACGATGGCATAGGAATGGGCACTGCCAATCCTCAGCACCACTCTTGTGCGCAGGTCCTGGGTCCATCGCTCCGGCAGGATCACCTCCCGTTCGTACCACACCCAGCCGACAAAATGCCGCAGACGCCAGTCCTGGCTGATGTCATTGAAGCTGGAGGGAACTGGCATGTCCACGGTGGGGCCTGACTGTGGAGAGAAGAGCCGGGCTCAGCTCCTAGGCCCCCAAAAGGGTCCAGGACCAGTGTGCTGCACGGCTGTGCCCCCAGGCCTAGCACAAGCCCTGACACATAGCGGGGATTCTTGGCAGAAAGGACAGATAACTTGCTGATGACAGGTCAACTGCCAGGGCGATCTGTGCACCTGGGCCAGTGGGGCCAGGAGTTCCTCCTCAGAGTGGATGGGGCACAATATCTCCTGAGACAGGAGCAAGCCCAGGGCCACATCCCAGCCAGAGGCAAGAAGGTTCAGACCTGTGACTAAGAGGCAGATGGCCACTGCCTGTCACAGGGAGGAAGGCTGGTTGGAGGAATGGGGGGAGCTTTGCTTAGGACACTGTGAGTGGGGTGCACACTGGCACCCAGCCCCCTCCTCTTTCCCTCCTGTACTGAATGCTGCAAAGTCAGAATAAGAGGATGTAGACCAGGCAAAAGCCGCCCAGACCTCACCCAGTTCCACTTCTCTGCAGATCACATCCAAGTCAGGAGGGGAACAGGGGTGGCGTCCTGGGCCTGATGTCATGTCCTGTCCTCTATGTGAACCTTGAAAACCAAGGGACTTCCTGCCTCGGCAGAGCTGACCTCAGGACATCTAAACTGTCACCTTCTCCCGATCCCCGGGCCCAGCTCTGTGCAGTGCATGCCGCTGTGGCCAGAGTGTGTGGGTGGCTCATGCCAGTAATCAGCGCTTTGGGAGGTCAACGTGGGAGGATGGCTTGAGGCCAGGAGTTCGAGACCACCCTGGGTAAATAGTGACACCCTGTATCTTTTTTTTTTTTTTAAGTTTTTTTGCCTTTTTTTTTTTTTTGGAGACGTAGTCTCACTATGTCGCCCAAGTTGGAGTGCAGTGGCATCCTGATCTCAGCTCACTGCAACCTCTACTCCCGGGTTCAAGCAATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGAACCACCACACTTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCCTGTTATGTTGGCCAGCCTGGTCTCAAACTCCTGGCCTCAGGCGATTCGCCCGCCTCCACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGAGCCCAGATAATTTTTTTTTTTTCAATTAGCCAGGCGTGTTGGCACCCCCTAAATTGCAAGGCTGGGGCGGGAGAATCGCTTGAGCTCAGAAGTTAGGCTGGCGCCACTCCGCCCCAGCCTGGGAAACAGGTGCAAACCCAGTCTCAAAAAAATTTTTAAAAATTAAAAATAAATATTGAAAGGAAGGATACTGCACAGACTCAGCCTTTACCTCGGGAAAGGGCTCGGCAAGAGCCTTTTCTCCTCCTGCCTAATCCGCCCCGGCCCTCCAGGGTGCTCCTGTTCCCCCGTCCCCCAAGCCGGCGCCCCCAAGCCCGTTGACCTTTAACCTCCTGCGGGCCCCAGCTCGGAGACGCCCAGGGGAAGAAGTCTGCGGGGGGCCCGG
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Task1_train_11210
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This alteration in GUSB (glucuronidase beta) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; not provided
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CATACATGCCGTGGGTGGCAGCTGGAGGTCCCATGCTGTTCAGCAGCCGTGCCCCCCCACCCGCCCTGCCTGCTCCTGGCCGCACTGACCACGATGGCATAGGAATGGGCACTGCCAATCCTCAGCACCACTCTTGTGCGCAGGTCCTGGGTCCATCGCTCCGGCAGGATCACCTCCCGTTCGTACCACACCCAGCCGACAAAATGCCGCAGACGCCAGTCCTGGCTGATGTCATTGAAGCTGGAGGGAACTGGCATGTCCACGGTGGGGCCTGACTGTGGAGAGAAGAGCCGGGCTCAGCTCCTAGGCCCCCAAAAGGGTCCAGGACCAGTGTGCTGCACGGCTGTGCCCCCAGGCCTAGCACAAGCCCTGACACATAGCGGGGATTCTTGGCAGAAAGGACAGATAACTTGCTGATGACAGGTCAACTGCCAGGGCGATCTGTGCACCTGGGCCAGTGGGGCCAGGAGTTCCTCCTCAGAGTGGATGGGGCACAATATCTCCTGAGACAGGAGCAAGCCCAGGGCCACATCCCAGCCAGAGGCAAGAAGGTTCAGACCTGTGACTAAGAGGCAGATGGCCACTGCCTGTCACAGGGAGGAAGGCTGGTTGGAGGAATGGGGGGAGCTTTGCTTAGGACACTGTGAGTGGGGTGCACACTGGCACCCAGCCCCCTCCTCTTTCCCTCCTGTACTGAATGCTGCAAAGTCAGAATAAGAGGATGTAGACCAGGCAAAAGCCGCCCAGACCTCACCCAGTTCCACTTCTCTGCAGATCACATCCAAGTCAGGAGGGGAACAGGGGTGGCGTCCTGGGCCTGATGTCATGTCCTGTCCTCTATGTGAACCTTGAAAACCAAGGGACTTCCTGCCTCGGCAGAGCTGACCTCAGGACATCTAAACTGTCACCTTCTCCCGATCCCCGGGCCCAGCTCTGTGCAGTGCATGCCGCTGTGGCCAGAGTGTGTGGGTGGCTCATGCCAGTAATCAGCGCTTTGGGAGGTCAACGTGGGAGGATGGCTTGAGGCCAGGAGTTCGAGACCACCCTGGGTAAATAGTGACACCCTGTATCTTTTTTTTTTTTTTAAGTTTTTTTGCCTTTTTTTTTTTTTTGGAGACGTAGTCTCACTATGTCGCCCAAGTTGGAGTGCAGTGGCATCCTGATCTCAGCTCACTGCAACCTCTACTCCCGGGTTCAAGCAATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGAACCACCACACTTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCCTGTTATGTTGGCCAGCCTGGTCTCAAACTCCTGGCCTCAGGCGATTCGCCCGCCTCCACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGAGCCCAGATAATTTTTTTTTTTTCAATTAGCCAGGCGTGTTGGCACCCCCTAAATTGCAAGGCTGGGGCGGGAGAATCGCTTGAGCTCAGAAGTTAGGCTGGCGCCACTCCGCCCCAGCCTGGGAAACAGGTGCAAACCCAGTCTCAAAAAAATTTTTAAAAATTAAAAATAAATATTGAAAGGAAGGATACTGCACAGACTCAGCCTTTACCTCGGGAAAGGGCTCGGCAAGAGCCTTTTCTCCTCCTGCCTAATCCGCCCCGGCCCTCCAGGGTGCTCCTGTTCCCCCGTCCCCCAAGCCGGCGCCCCCAAGCCCGTTGACCTTTAACCTCCTGCGGGCCCCAGCTCGGAGACGCCCAGGGGAAGAAGTCTGCGGGGGGCCCGGGCTCCCCTACTCCCACCGCCGGGCTTTCGGGCGCCTCCCGGCCCTGCCCCGAGATCGCACCTCCCACAGCGGCCGCCGGTACCACTGCTCCTCGAAGCCCCGGCGTCGGTTGTCAGAGAAGTCGGCGCGGAAGCTCCAGAGGCCGTCCAGCTCCTTGCACTCCCGCGACGGGCTCTCCTGGGGGTACAGCATCCCGCCCTGCAGCCCCAGCGCGCAGCCCCACAACAACGGCCCGAGCGCCGCCCAGGCAACCGCCGACCCCCGGGCCATGCTTCCCGGTCCCCCGCTCGGCCACCGTCTGCGGCGCTAAGAAAAGCGCGGGAGGTGCCCGTAGGGCGGGTCGCGTGACGCGCCGGTGTCGTGATGCGCCTGAAGCCATCCGCGCCATCTTGGTTGAGGACGAGTGCCAGGCCTGGAGGGGCGGGGCCGGGCGCTGCCCGGTAGGGCTTGTGGCTGGAACCCCAGGCTAGGCCTTTGGGGAAACGGGACCCTCACCCTCAGCCCCAGCCGATAAGGGCGAGGTCTGCTCCCCACCCCGACCCAGGCTGGACGATCCAGGGCCGCAGGCCAGAACAGAACCCCTGAGATCGGTGGGATCCCCCTGTTTCTTCAAGGAGCACCTCCACTTGCTTTTCCCAGCAGGAATTCAAGGAGGCCCCAGCGGCGCCTCTTCCATGCCTGTCTGATGCAGCCTCTTGCAGGGATGCACGTCCTTGGGATGCGGCCATAGCCTTGACCCTGGGCTTCTGGAGCCCTGACCTTAACCCAGGGGCCAAGAGCTCCCTCTTGGTGTTGCAGGCACATAAAGATGCAGGGAGAGAGGCCAGGTGCACTTTGGGAACCCGAGGGGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACGATAGTGAAACCCCGTCCCTATTTTGTAAACATACAAAAAAAAAAAAAAGAATTAGCGGGGCGTGATGGTGCGTGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGGCAAAGGCTGCAGTAAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAATTGCAGGGAAAGGGTGCCCTGCGGGACCCCAGTTTACTCCAGTAGGGAAGGCACCGTGTGGGAGAGGTAGAGGAGGAGATCTGGAGACAGCAAAGGAGACATAGATTTATGGAGGGGACTTTCATACAGGGACGGTGCAGTGGCCATTGCTGGACATGAGAACCACTACCATTTGTAAAAAGCATGCAGCTTACATAACATTTTCAACTAGCATCCTCGACCTGTTACTGGTGGAGTTCCGGGTGGTGAATCCCTACACATCAGCAACAACCTCAATTCTTGCCTCCTCAGAAGAAAGAATTGCACTGAGGGGCATAAGGCAGAAAGCCAGAGGGAGGTAAGCTGCAGAGCAGTAGTAAAAGCTTGTTAAAAAGCAGGCCAGTGCTGAGCGTAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGTGGGGGGATCACGAGGTCAGGGGTTTGAGACCAGCCTGGCCAATATGATGAAACCCCATCTCTACTAAAAAATTAGCTGGGCATGGTGGCATGCGCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACGCGGGAGGCAGAGGTTGCAGTCAGCCGAGATCGCACCACAGCACTACAGCCTGGCGAGAGAGCAAGACTCAGTCTAAAAAAAAAAGCAGGCCAGGCACAGAGGTTCAGGCCTGTAACTCCAAACTCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACTTGATATCAGGAGTTTGAGACCAACCTGGCCAACGTGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAATCCCTACTATTTGGGAGGCTGAGGCAGGAGAAATGCTTTAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCTACAGAGTGAGATGCCATTTCAGGAAAAAAAAAAATATTAAAAAACTTTAGAACAGGAAGGAAAGAAGGAAAGTACAACTTGGAAGAGGGCCAAGTGGGTGATCTAAGAAACCAAGTGCCTTGGCCAGGTGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCTGAAGCAGGCAGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAATATGGAGAAACCGCATCTCCATATTTAGCTGGGCATGGTGGCACATGTCTGTA
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CATACATGCCGTGGGTGGCAGCTGGAGGTCCCATGCTGTTCAGCAGCCGTGCCCCCCCACCCGCCCTGCCTGCTCCTGGCCGCACTGACCACGATGGCATAGGAATGGGCACTGCCAATCCTCAGCACCACTCTTGTGCGCAGGTCCTGGGTCCATCGCTCCGGCAGGATCACCTCCCGTTCGTACCACACCCAGCCGACAAAATGCCGCAGACGCCAGTCCTGGCTGATGTCATTGAAGCTGGAGGGAACTGGCATGTCCACGGTGGGGCCTGACTGTGGAGAGAAGAGCCGGGCTCAGCTCCTAGGCCCCCAAAAGGGTCCAGGACCAGTGTGCTGCACGGCTGTGCCCCCAGGCCTAGCACAAGCCCTGACACATAGCGGGGATTCTTGGCAGAAAGGACAGATAACTTGCTGATGACAGGTCAACTGCCAGGGCGATCTGTGCACCTGGGCCAGTGGGGCCAGGAGTTCCTCCTCAGAGTGGATGGGGCACAATATCTCCTGAGACAGGAGCAAGCCCAGGGCCACATCCCAGCCAGAGGCAAGAAGGTTCAGACCTGTGACTAAGAGGCAGATGGCCACTGCCTGTCACAGGGAGGAAGGCTGGTTGGAGGAATGGGGGGAGCTTTGCTTAGGACACTGTGAGTGGGGTGCACACTGGCACCCAGCCCCCTCCTCTTTCCCTCCTGTACTGAATGCTGCAAAGTCAGAATAAGAGGATGTAGACCAGGCAAAAGCCGCCCAGACCTCACCCAGTTCCACTTCTCTGCAGATCACATCCAAGTCAGGAGGGGAACAGGGGTGGCGTCCTGGGCCTGATGTCATGTCCTGTCCTCTATGTGAACCTTGAAAACCAAGGGACTTCCTGCCTCGGCAGAGCTGACCTCAGGACATCTAAACTGTCACCTTCTCCCGATCCCCGGGCCCAGCTCTGTGCAGTGCATGCCGCTGTGGCCAGAGTGTGTGGGTGGCTCATGCCAGTAATCAGCGCTTTGGGAGGTCAACGTGGGAGGATGGCTTGAGGCCAGGAGTTCGAGACCACCCTGGGTAAATAGTGACACCCTGTATCTTTTTTTTTTTTTTAAGTTTTTTTGCCTTTTTTTTTTTTTTGGAGACGTAGTCTCACTATGTCGCCCAAGTTGGAGTGCAGTGGCATCCTGATCTCAGCTCACTGCAACCTCTACTCCCGGGTTCAAGCAATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGAACCACCACACTTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCCTGTTATGTTGGCCAGCCTGGTCTCAAACTCCTGGCCTCAGGCGATTCGCCCGCCTCCACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGAGCCCAGATAATTTTTTTTTTTTCAATTAGCCAGGCGTGTTGGCACCCCCTAAATTGCAAGGCTGGGGCGGGAGAATCGCTTGAGCTCAGAAGTTAGGCTGGCGCCACTCCGCCCCAGCCTGGGAAACAGGTGCAAACCCAGTCTCAAAAAAATTTTTAAAAATTAAAAATAAATATTGAAAGGAAGGATACTGCACAGACTCAGCCTTTACCTCGGGAAAGGGCTCGGCAAGAGCCTTTTCTCCTCCTGCCTAATCCGCCCCGGCCCTCCAGGGTGCTCCTGTTCCCCCGTCCCCCAAGCCGGCGCCCCCAAGCCCGTTGACCTTTAACCTCCTGCGGGCCCCAGCTCGGAGACGCCCAGGGGAAGAAGTCTGCGGGGGGCCCGGGCTCCCCTACTCCCACCGCCGGGCTTTCGGGCGCCTCCCGGCCCTGCCCCGAGATCGCACCTCCCACAGCGGCCGCCGGTACCACTGCTCCTCGAAGCCCCGGCGTCGGTTGTCAGAGAAGTCGGCGCGGAAGCTCCAGAGGCCGTCCAGCTCCTTGCACTCCCGCGACGGGCTCTCCTGGGGGTACAGCATCCCGCCCTGCAGCCCCAGCGCGCAGCCCCACAACAACGGCCCGAGCGCCGCCCAGGCAACCGCCGACCCCCGGGCCAGGCTTCCCGGTCCCCCGCTCGGCCACCGTCTGCGGCGCTAAGAAAAGCGCGGGAGGTGCCCGTAGGGCGGGTCGCGTGACGCGCCGGTGTCGTGATGCGCCTGAAGCCATCCGCGCCATCTTGGTTGAGGACGAGTGCCAGGCCTGGAGGGGCGGGGCCGGGCGCTGCCCGGTAGGGCTTGTGGCTGGAACCCCAGGCTAGGCCTTTGGGGAAACGGGACCCTCACCCTCAGCCCCAGCCGATAAGGGCGAGGTCTGCTCCCCACCCCGACCCAGGCTGGACGATCCAGGGCCGCAGGCCAGAACAGAACCCCTGAGATCGGTGGGATCCCCCTGTTTCTTCAAGGAGCACCTCCACTTGCTTTTCCCAGCAGGAATTCAAGGAGGCCCCAGCGGCGCCTCTTCCATGCCTGTCTGATGCAGCCTCTTGCAGGGATGCACGTCCTTGGGATGCGGCCATAGCCTTGACCCTGGGCTTCTGGAGCCCTGACCTTAACCCAGGGGCCAAGAGCTCCCTCTTGGTGTTGCAGGCACATAAAGATGCAGGGAGAGAGGCCAGGTGCACTTTGGGAACCCGAGGGGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACGATAGTGAAACCCCGTCCCTATTTTGTAAACATACAAAAAAAAAAAAAAGAATTAGCGGGGCGTGATGGTGCGTGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGGCAAAGGCTGCAGTAAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAATTGCAGGGAAAGGGTGCCCTGCGGGACCCCAGTTTACTCCAGTAGGGAAGGCACCGTGTGGGAGAGGTAGAGGAGGAGATCTGGAGACAGCAAAGGAGACATAGATTTATGGAGGGGACTTTCATACAGGGACGGTGCAGTGGCCATTGCTGGACATGAGAACCACTACCATTTGTAAAAAGCATGCAGCTTACATAACATTTTCAACTAGCATCCTCGACCTGTTACTGGTGGAGTTCCGGGTGGTGAATCCCTACACATCAGCAACAACCTCAATTCTTGCCTCCTCAGAAGAAAGAATTGCACTGAGGGGCATAAGGCAGAAAGCCAGAGGGAGGTAAGCTGCAGAGCAGTAGTAAAAGCTTGTTAAAAAGCAGGCCAGTGCTGAGCGTAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGAGGTGGGGGGATCACGAGGTCAGGGGTTTGAGACCAGCCTGGCCAATATGATGAAACCCCATCTCTACTAAAAAATTAGCTGGGCATGGTGGCATGCGCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACGCGGGAGGCAGAGGTTGCAGTCAGCCGAGATCGCACCACAGCACTACAGCCTGGCGAGAGAGCAAGACTCAGTCTAAAAAAAAAAGCAGGCCAGGCACAGAGGTTCAGGCCTGTAACTCCAAACTCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACTTGATATCAGGAGTTTGAGACCAACCTGGCCAACGTGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAATCCCTACTATTTGGGAGGCTGAGGCAGGAGAAATGCTTTAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCTACAGAGTGAGATGCCATTTCAGGAAAAAAAAAAATATTAAAAAACTTTAGAACAGGAAGGAAAGAAGGAAAGTACAACTTGGAAGAGGGCCAAGTGGGTGATCTAAGAAACCAAGTGCCTTGGCCAGGTGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCTGAAGCAGGCAGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAATATGGAGAAACCGCATCTCCATATTTAGCTGGGCATGGTGGCACATGTCTGTA
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Task1_train_11211
|
A variant on Chromosome 7 in gene ASL (argininosuccinate lyase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Argininosuccinate lyase deficiency
|
CACCTTAGCCTTCCAAAATGCTGGGATTACAGGCATGAGCCACCACTCCCAGTCCTATAAAATTTTAAAAAAATGTCTGGGTGTGGTGGCGCATGCTTGTAGTCCCAACTATTGGGGAGGCTGAGGCAAGAGGATTGGTTGAGACCAGGAGTTTGAGGCTGCAGTGAGCTATGATGGTGCCACCGCACTCCAACCTGGGTAACAAAGTGAGACCCTGTGTCTAAAAAAGAATTTAAAGGCCGGGTGTGGTGGCTCACACCCGTAATCCCAGGACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGATTAAGACCATCCTGGCTAACAAGGTGAAACCACGTCTCTACTGAAAAAAAAAAATACAAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAATCTGGGAGGTGGAGCTTGCAGTGAGCCAAGATCCTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAATTAAAAAAGATTTTTTTAATGAACAAAACAGGCTCGGCACAGTGGCTCATGCCTGTAATCCCAAGCACTTCGGGATGCCAAGGTCAGGGGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAACTCAGCCAGGTGTGGTGGCACACGCCTGAAATTCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGGCTTGAAGCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTCTATCTCAAAGAAAACGAACAAAACATAGATGCCTACATACCATTCCTCTGCCCTTGGCTCCTGGGGAGTAAGGGATCACCCAGTGACCTCCTAGAAGGCCAGTGACAATGGGGGGTGTCAGGGTGCTTTTCAGAGCCAAGGGAGTGGTAGGAATTGGGATCTTAGTCCAGCTCCAAGCTGTGAGGGAGAGAGTTGCAGGGCACTTAAGCTTGGTGGAGACCCTCAAGGCCTCTTTGCCTGTCCCTGCAGCAAAGGTTCTGGACACCAGAGCCAAGTCCAGAAGCCCTGGTGGAACAGGGGTGAAAAGCATAGGTTCTGACTTCAGACTGCTGGGCCGCAGCCCTGGCTATCCCACCCCAGGTGAGAGCAGGCTGCTCTGTGCCTCAGTTTCCCCATCTTCATAGTGGAATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGTCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGCCGACAAAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAGAACCCAAACTTTTGGTGTTCAGCCATGTTCCCATGCTCACTCCCAGGGTGGTGACTCTGGGAAGGTCTCAGCCTCCTTGTCTGCCCAGTTAGAATGATCTGATGCCCCTGCTACCATCAGACTTGATAAGTTTCCCAAAGACTCTTTGCAAGAAGCACTGTTCTGGAGGGTGGAGGAGAGACTAATTGTTCTTGCTCTCCTGGCCAGAGTGGGAAGCTTTGGGGTGGCCGGTTTGTGGGTGCAGTGGACCCCATCATGGAGAAGTTCAACGCGTCCATTGCCTACGACCGGCACCTTTGGGAGGTGGATGTTCAAGGCAGCAAAGCCTACAGCAGGGGCCTGGAGAAGGCAGGGCTCCTCACCAAGGCCGAGATGGACCAGATACTCCATGGCCTAGACAAGGTACTTGCCGTGGCCCAAGCCCCACCCAAGGCCCCTTCCCTGTGGCCCCAGGCTCCCACCAAATCCCTGAGCAAACAGTGCAGTGTTGCCCATCTGTGGTTTCACATTGAACTAATTATATACTCAAGTGCTGTTTAACTGTGTGCCTTGATGACTGCCTCTCTCCATCCTTTAATGACCCCTGTGGCCCACATGGCTCATGGGTAAAGGTGTGCTGGGCCTGAGATGCCCCCTCCCAGGGTGCGCTTCCAGGACTCAGCTCCTGGGCAGGGACAGTCAGTCACCAGGGATAGGGTGGGACCAAGGCAGGGGCTCTCTTGGCTGCTGATGCCTGCTCACCTGACCCCGGCATTGCTGCTACCCACTACAGGTGGCTGAGGAGTGGGCCCAGGGCACCTTCAAACTGAACTCCAATGATGAGGACATCCACACAGCCAATGAGCGCCGCCTGAAGGTACGACCCCTGGAGCCCCACCGCTTTCCTTGCCTCCCCTCTCCACCTTGCCCAGGGCCACTTTGAGCATTAGCACCATTCTGTTTACTTCGCCATTGGCAGACAGCATGTGAGACCTCAGGACATGAGCCAGGCACCCTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGACCAGGAGTTCGAGACCAGCCTGGGCAACATAATGAGGTCCCACAGCTACAAAAATTAAAAAAAGAAAAGAAAAAAAGAACAGGCCTCAGCAGAAATGGCGAGAGATTTGGGGAGGACCCGGAGCCCTGGGGTATGGAGGTAGGTTGGCAGGGCTGATGAGGAAAACTGCCCTGCCTGGGTTGACTCCTCTGGGGGTATAGACCGTGACCCTGGGTCTCCCTTCACCTCCAGGAGCTCATTGGTGCAACGGCAGGGAAGCTGCACACGGGACGGAGCCGGAATGACCAGGTGCTTTAGCCCCTCCACCCCCTGCTCCGTGTTGTCCCAACCTTGAGGAGCCCAGGGGGCAGTTAGAGTTCTGCAGCGGTCCTGGCTCCTCAGGGAAGCAACACATCGGCCTCCCTGAGCACCATCTCCTCCTTGCACAGGTGGTCACAGACCTCAGGCTGTGGATGCGGCAGACCTGCTCCACGCTCTCGGGCCTCCTCTGGGAGCTCATTAGGACCATGGTGGATCGGGCAGAGGCGTGAGTCCTACAGGGACACCCAGGGGGCAGACAGAGGTGTGATGGAAGCCTGAACAGGAGACCTAGGGGGCAGGGGTGAACAGCGTGGGGGTGCCAGGCCCTGGGGGACAGGGGCATCCCAGAACTCCAGGATCGAGGCAGAGCAGCCAGGAGTGGGCCATTTCCTGCAGGCCCCAATACTCCCATGCCAGTCTAGCTCAGCAGGCAGAGAAGACTAACCCTTCGTGGGGCTGGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGAAAACTCTGTCTCTACTAAAAATACAAAAATTAGGCAATGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGCCTGAGGCAGAAGAACTGCTTGAACCCGGGAGGAGGAGGTTGCAATGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCTGTCTCAAAAAAAAAGAAAAAAAAAAAAGAAAACTCACCATTTGCAGATTTGAAGGCAGGAAGCTAAGCCAAGCACAGCTAGCTTGGCTGTGCCTGGAGCAGCCAGAGTCACTCCCCACACTGCCTGTCCCCCAGATCCCCCATCCTAAGCTTCGCCTCCCCATCCAGCCCATCTGGCAAAAGACAGAGCCAAAGGCTGCCTCCTGCTGGCCTCATTTCAGGCTTTGGCTTCTGGGACCTGGTGTCTTTGGGACTGGATTTGTTCCTTGCAGACCTGGACG
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CACCTTAGCCTTCCAAAATGCTGGGATTACAGGCATGAGCCACCACTCCCAGTCCTATAAAATTTTAAAAAAATGTCTGGGTGTGGTGGCGCATGCTTGTAGTCCCAACTATTGGGGAGGCTGAGGCAAGAGGATTGGTTGAGACCAGGAGTTTGAGGCTGCAGTGAGCTATGATGGTGCCACCGCACTCCAACCTGGGTAACAAAGTGAGACCCTGTGTCTAAAAAAGAATTTAAAGGCCGGGTGTGGTGGCTCACACCCGTAATCCCAGGACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGATTAAGACCATCCTGGCTAACAAGGTGAAACCACGTCTCTACTGAAAAAAAAAAATACAAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAATCTGGGAGGTGGAGCTTGCAGTGAGCCAAGATCCTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAATTAAAAAAGATTTTTTTAATGAACAAAACAGGCTCGGCACAGTGGCTCATGCCTGTAATCCCAAGCACTTCGGGATGCCAAGGTCAGGGGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAACTCAGCCAGGTGTGGTGGCACACGCCTGAAATTCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGGCTTGAAGCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTCTATCTCAAAGAAAACGAACAAAACATAGATGCCTACATACCATTCCTCTGCCCTTGGCTCCTGGGGAGTAAGGGATCACCCAGTGACCTCCTAGAAGGCCAGTGACAATGGGGGGTGTCAGGGTGCTTTTCAGAGCCAAGGGAGTGGTAGGAATTGGGATCTTAGTCCAGCTCCAAGCTGTGAGGGAGAGAGTTGCAGGGCACTTAAGCTTGGTGGAGACCCTCAAGGCCTCTTTGCCTGTCCCTGCAGCAAAGGTTCTGGACACCAGAGCCAAGTCCAGAAGCCCTGGTGGAACAGGGGTGAAAAGCATAGGTTCTGACTTCAGACTGCTGGGCCGCAGCCCTGGCTATCCCACCCCAGGTGAGAGCAGGCTGCTCTGTGCCTCAGTTTCCCCATCTTCATAGTGGAATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGTCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGCCGACAAAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAGAACCCAAACTTTTGGTGTTCAGCCATGTTCCCATGCTCACTCCCAGGGTGGTGACTCTGGGAAGGTCTCAGCCTCCTTGTCTGCCCAGTTAGAATGATCTGATGCCCCTGCTACCATCAGACTTGATAAGTTTCCCAAAGACTCTTTGCAAGAAGCACTGTTCTGGAGGGTGGAGGAGAGACTAATTGTTCTTGCTCTCCTGGCCAGAGTGGGAAGCTTTGGGGTGGCCGGTTTGTGGGTGCAGTGGACCCCATCATGGAGAAGTTCAACGCGTCCATTGCCTACGACCGGCACCTTTGGGAGGTGGATGTTCAAGACAGCAAAGCCTACAGCAGGGGCCTGGAGAAGGCAGGGCTCCTCACCAAGGCCGAGATGGACCAGATACTCCATGGCCTAGACAAGGTACTTGCCGTGGCCCAAGCCCCACCCAAGGCCCCTTCCCTGTGGCCCCAGGCTCCCACCAAATCCCTGAGCAAACAGTGCAGTGTTGCCCATCTGTGGTTTCACATTGAACTAATTATATACTCAAGTGCTGTTTAACTGTGTGCCTTGATGACTGCCTCTCTCCATCCTTTAATGACCCCTGTGGCCCACATGGCTCATGGGTAAAGGTGTGCTGGGCCTGAGATGCCCCCTCCCAGGGTGCGCTTCCAGGACTCAGCTCCTGGGCAGGGACAGTCAGTCACCAGGGATAGGGTGGGACCAAGGCAGGGGCTCTCTTGGCTGCTGATGCCTGCTCACCTGACCCCGGCATTGCTGCTACCCACTACAGGTGGCTGAGGAGTGGGCCCAGGGCACCTTCAAACTGAACTCCAATGATGAGGACATCCACACAGCCAATGAGCGCCGCCTGAAGGTACGACCCCTGGAGCCCCACCGCTTTCCTTGCCTCCCCTCTCCACCTTGCCCAGGGCCACTTTGAGCATTAGCACCATTCTGTTTACTTCGCCATTGGCAGACAGCATGTGAGACCTCAGGACATGAGCCAGGCACCCTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGACCAGGAGTTCGAGACCAGCCTGGGCAACATAATGAGGTCCCACAGCTACAAAAATTAAAAAAAGAAAAGAAAAAAAGAACAGGCCTCAGCAGAAATGGCGAGAGATTTGGGGAGGACCCGGAGCCCTGGGGTATGGAGGTAGGTTGGCAGGGCTGATGAGGAAAACTGCCCTGCCTGGGTTGACTCCTCTGGGGGTATAGACCGTGACCCTGGGTCTCCCTTCACCTCCAGGAGCTCATTGGTGCAACGGCAGGGAAGCTGCACACGGGACGGAGCCGGAATGACCAGGTGCTTTAGCCCCTCCACCCCCTGCTCCGTGTTGTCCCAACCTTGAGGAGCCCAGGGGGCAGTTAGAGTTCTGCAGCGGTCCTGGCTCCTCAGGGAAGCAACACATCGGCCTCCCTGAGCACCATCTCCTCCTTGCACAGGTGGTCACAGACCTCAGGCTGTGGATGCGGCAGACCTGCTCCACGCTCTCGGGCCTCCTCTGGGAGCTCATTAGGACCATGGTGGATCGGGCAGAGGCGTGAGTCCTACAGGGACACCCAGGGGGCAGACAGAGGTGTGATGGAAGCCTGAACAGGAGACCTAGGGGGCAGGGGTGAACAGCGTGGGGGTGCCAGGCCCTGGGGGACAGGGGCATCCCAGAACTCCAGGATCGAGGCAGAGCAGCCAGGAGTGGGCCATTTCCTGCAGGCCCCAATACTCCCATGCCAGTCTAGCTCAGCAGGCAGAGAAGACTAACCCTTCGTGGGGCTGGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGAAAACTCTGTCTCTACTAAAAATACAAAAATTAGGCAATGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGCCTGAGGCAGAAGAACTGCTTGAACCCGGGAGGAGGAGGTTGCAATGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCTGTCTCAAAAAAAAAGAAAAAAAAAAAAGAAAACTCACCATTTGCAGATTTGAAGGCAGGAAGCTAAGCCAAGCACAGCTAGCTTGGCTGTGCCTGGAGCAGCCAGAGTCACTCCCCACACTGCCTGTCCCCCAGATCCCCCATCCTAAGCTTCGCCTCCCCATCCAGCCCATCTGGCAAAAGACAGAGCCAAAGGCTGCCTCCTGCTGGCCTCATTTCAGGCTTTGGCTTCTGGGACCTGGTGTCTTTGGGACTGGATTTGTTCCTTGCAGACCTGGACG
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Task1_train_11212
|
A variant affecting Chromosome 7, within the gene ASL (argininosuccinate lyase), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Argininosuccinate lyase deficiency
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AAGAGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAATTAAAAAAGATTTTTTTAATGAACAAAACAGGCTCGGCACAGTGGCTCATGCCTGTAATCCCAAGCACTTCGGGATGCCAAGGTCAGGGGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAACTCAGCCAGGTGTGGTGGCACACGCCTGAAATTCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGGCTTGAAGCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTCTATCTCAAAGAAAACGAACAAAACATAGATGCCTACATACCATTCCTCTGCCCTTGGCTCCTGGGGAGTAAGGGATCACCCAGTGACCTCCTAGAAGGCCAGTGACAATGGGGGGTGTCAGGGTGCTTTTCAGAGCCAAGGGAGTGGTAGGAATTGGGATCTTAGTCCAGCTCCAAGCTGTGAGGGAGAGAGTTGCAGGGCACTTAAGCTTGGTGGAGACCCTCAAGGCCTCTTTGCCTGTCCCTGCAGCAAAGGTTCTGGACACCAGAGCCAAGTCCAGAAGCCCTGGTGGAACAGGGGTGAAAAGCATAGGTTCTGACTTCAGACTGCTGGGCCGCAGCCCTGGCTATCCCACCCCAGGTGAGAGCAGGCTGCTCTGTGCCTCAGTTTCCCCATCTTCATAGTGGAATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGTCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGCCGACAAAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAGAACCCAAACTTTTGGTGTTCAGCCATGTTCCCATGCTCACTCCCAGGGTGGTGACTCTGGGAAGGTCTCAGCCTCCTTGTCTGCCCAGTTAGAATGATCTGATGCCCCTGCTACCATCAGACTTGATAAGTTTCCCAAAGACTCTTTGCAAGAAGCACTGTTCTGGAGGGTGGAGGAGAGACTAATTGTTCTTGCTCTCCTGGCCAGAGTGGGAAGCTTTGGGGTGGCCGGTTTGTGGGTGCAGTGGACCCCATCATGGAGAAGTTCAACGCGTCCATTGCCTACGACCGGCACCTTTGGGAGGTGGATGTTCAAGGCAGCAAAGCCTACAGCAGGGGCCTGGAGAAGGCAGGGCTCCTCACCAAGGCCGAGATGGACCAGATACTCCATGGCCTAGACAAGGTACTTGCCGTGGCCCAAGCCCCACCCAAGGCCCCTTCCCTGTGGCCCCAGGCTCCCACCAAATCCCTGAGCAAACAGTGCAGTGTTGCCCATCTGTGGTTTCACATTGAACTAATTATATACTCAAGTGCTGTTTAACTGTGTGCCTTGATGACTGCCTCTCTCCATCCTTTAATGACCCCTGTGGCCCACATGGCTCATGGGTAAAGGTGTGCTGGGCCTGAGATGCCCCCTCCCAGGGTGCGCTTCCAGGACTCAGCTCCTGGGCAGGGACAGTCAGTCACCAGGGATAGGGTGGGACCAAGGCAGGGGCTCTCTTGGCTGCTGATGCCTGCTCACCTGACCCCGGCATTGCTGCTACCCACTACAGGTGGCTGAGGAGTGGGCCCAGGGCACCTTCAAACTGAACTCCAATGATGAGGACATCCACACAGCCAATGAGCGCCGCCTGAAGGTACGACCCCTGGAGCCCCACCGCTTTCCTTGCCTCCCCTCTCCACCTTGCCCAGGGCCACTTTGAGCATTAGCACCATTCTGTTTACTTCGCCATTGGCAGACAGCATGTGAGACCTCAGGACATGAGCCAGGCACCCTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGACCAGGAGTTCGAGACCAGCCTGGGCAACATAATGAGGTCCCACAGCTACAAAAATTAAAAAAAGAAAAGAAAAAAAGAACAGGCCTCAGCAGAAATGGCGAGAGATTTGGGGAGGACCCGGAGCCCTGGGGTATGGAGGTAGGTTGGCAGGGCTGATGAGGAAAACTGCCCTGCCTGGGTTGACTCCTCTGGGGGTATAGACCGTGACCCTGGGTCTCCCTTCACCTCCAGGAGCTCATTGGTGCAACGGCAGGGAAGCTGCACACGGGACGGAGCCGGAATGACCAGGTGCTTTAGCCCCTCCACCCCCTGCTCCGTGTTGTCCCAACCTTGAGGAGCCCAGGGGGCAGTTAGAGTTCTGCAGCGGTCCTGGCTCCTCAGGGAAGCAACACATCGGCCTCCCTGAGCACCATCTCCTCCTTGCACAGGTGGTCACAGACCTCAGGCTGTGGATGCGGCAGACCTGCTCCACGCTCTCGGGCCTCCTCTGGGAGCTCATTAGGACCATGGTGGATCGGGCAGAGGCGTGAGTCCTACAGGGACACCCAGGGGGCAGACAGAGGTGTGATGGAAGCCTGAACAGGAGACCTAGGGGGCAGGGGTGAACAGCGTGGGGGTGCCAGGCCCTGGGGGACAGGGGCATCCCAGAACTCCAGGATCGAGGCAGAGCAGCCAGGAGTGGGCCATTTCCTGCAGGCCCCAATACTCCCATGCCAGTCTAGCTCAGCAGGCAGAGAAGACTAACCCTTCGTGGGGCTGGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGAAAACTCTGTCTCTACTAAAAATACAAAAATTAGGCAATGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGCCTGAGGCAGAAGAACTGCTTGAACCCGGGAGGAGGAGGTTGCAATGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCTGTCTCAAAAAAAAAGAAAAAAAAAAAAGAAAACTCACCATTTGCAGATTTGAAGGCAGGAAGCTAAGCCAAGCACAGCTAGCTTGGCTGTGCCTGGAGCAGCCAGAGTCACTCCCCACACTGCCTGTCCCCCAGATCCCCCATCCTAAGCTTCGCCTCCCCATCCAGCCCATCTGGCAAAAGACAGAGCCAAAGGCTGCCTCCTGCTGGCCTCATTTCAGGCTTTGGCTTCTGGGACCTGGTGTCTTTGGGACTGGATTTGTTCCTTGCAGACCTGGACGAAGAGCTGCTGAGAAGTCTCCATGTGTTGTCAGAGACCCCTCCTCTTCCTCAACTCCCTGTGACCCCTGTTGTGCAGACTTGGGGGAAAACAAGGGCACAAGAATTGTCACCCAGCAGGTGGTGTGGGGCTGCTAGGAGGAACAGGGAGTGTCTGCTACTGAGTTCAGGGTTTCTTTAATTTTTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTTTGAGACAGGGTTTTGCTCTGTCACCTAGTCTGGAGTGTAGTGGCGCTATCTGAGCTAACTGCAAACTCTGCCTCCTGGGTTCAAGTGATTCTAGTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGCACCACCATGTCCAGCTAATTTTTGTATTTTTTTCAGTAGAGATGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGAGCTCAGGTGATCTGCCCGCGTCGGCCTGCCAAAGTGCTAGGATTACACCCATAAGCCACTGCGCTCAGCTTAA
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AAGAGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAATTAAAAAAGATTTTTTTAATGAACAAAACAGGCTCGGCACAGTGGCTCATGCCTGTAATCCCAAGCACTTCGGGATGCCAAGGTCAGGGGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAACTCAGCCAGGTGTGGTGGCACACGCCTGAAATTCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGGCTTGAAGCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTCTATCTCAAAGAAAACGAACAAAACATAGATGCCTACATACCATTCCTCTGCCCTTGGCTCCTGGGGAGTAAGGGATCACCCAGTGACCTCCTAGAAGGCCAGTGACAATGGGGGGTGTCAGGGTGCTTTTCAGAGCCAAGGGAGTGGTAGGAATTGGGATCTTAGTCCAGCTCCAAGCTGTGAGGGAGAGAGTTGCAGGGCACTTAAGCTTGGTGGAGACCCTCAAGGCCTCTTTGCCTGTCCCTGCAGCAAAGGTTCTGGACACCAGAGCCAAGTCCAGAAGCCCTGGTGGAACAGGGGTGAAAAGCATAGGTTCTGACTTCAGACTGCTGGGCCGCAGCCCTGGCTATCCCACCCCAGGTGAGAGCAGGCTGCTCTGTGCCTCAGTTTCCCCATCTTCATAGTGGAATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGTCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGCCGACAAAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAGAACCCAAACTTTTGGTGTTCAGCCATGTTCCCATGCTCACTCCCAGGGTGGTGACTCTGGGAAGGTCTCAGCCTCCTTGTCTGCCCAGTTAGAATGATCTGATGCCCCTGCTACCATCAGACTTGATAAGTTTCCCAAAGACTCTTTGCAAGAAGCACTGTTCTGGAGGGTGGAGGAGAGACTAATTGTTCTTGCTCTCCTGGCCAGAGTGGGAAGCTTTGGGGTGGCCGGTTTGTGGGTGCAGTGGACCCCATCATGGAGAAGTTCAACGCGTCCATTGCCTACGACCGGCACCTTTGGGAGGTGGATGTTCAAGGCAGCAAAGCCTACAGCAGGGGCCTGGAGAAGGCAGGGCTCCTCACCAAGGCCGAGATGGACCAGATACTCCATGGCCTAGACAAGGTACTTGCCGTGGCCCAAGCCCCACCCAAGGCCCCTTCCCTGTGGCCCCAGGCTCCCACCAAATCCCTGAGCAAACAGTGCAGTGTTGCCCATCTGTGGTTTCACATTGAACTAATTATATACTCAAGTGCTGTTTAACTGTGTGCCTTGATGACTGCCTCTCTCCATCCTTTAATGACCCCTGTGGCCCACATGGCTCATGGGTAAAGGTGTGCTGGGCCTGAGATGCCCCCTCCCAGGGTGCGCTTCCAGGACTCAGCTCCTGGGCAGGGACAGTCAGTCACCAGGGATAGGGTGGGACCAAGGCAGGGGCTCTCTTGGCTGCTGATGCCTGCTCACCTGACCCCGGCATTGCTGCTACCCACTACAGGTGGCTGAGGAGTGGGCCCAGGGCACCTTCAAACTGAACTCCAATGATGCGGACATCCACACAGCCAATGAGCGCCGCCTGAAGGTACGACCCCTGGAGCCCCACCGCTTTCCTTGCCTCCCCTCTCCACCTTGCCCAGGGCCACTTTGAGCATTAGCACCATTCTGTTTACTTCGCCATTGGCAGACAGCATGTGAGACCTCAGGACATGAGCCAGGCACCCTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGACCAGGAGTTCGAGACCAGCCTGGGCAACATAATGAGGTCCCACAGCTACAAAAATTAAAAAAAGAAAAGAAAAAAAGAACAGGCCTCAGCAGAAATGGCGAGAGATTTGGGGAGGACCCGGAGCCCTGGGGTATGGAGGTAGGTTGGCAGGGCTGATGAGGAAAACTGCCCTGCCTGGGTTGACTCCTCTGGGGGTATAGACCGTGACCCTGGGTCTCCCTTCACCTCCAGGAGCTCATTGGTGCAACGGCAGGGAAGCTGCACACGGGACGGAGCCGGAATGACCAGGTGCTTTAGCCCCTCCACCCCCTGCTCCGTGTTGTCCCAACCTTGAGGAGCCCAGGGGGCAGTTAGAGTTCTGCAGCGGTCCTGGCTCCTCAGGGAAGCAACACATCGGCCTCCCTGAGCACCATCTCCTCCTTGCACAGGTGGTCACAGACCTCAGGCTGTGGATGCGGCAGACCTGCTCCACGCTCTCGGGCCTCCTCTGGGAGCTCATTAGGACCATGGTGGATCGGGCAGAGGCGTGAGTCCTACAGGGACACCCAGGGGGCAGACAGAGGTGTGATGGAAGCCTGAACAGGAGACCTAGGGGGCAGGGGTGAACAGCGTGGGGGTGCCAGGCCCTGGGGGACAGGGGCATCCCAGAACTCCAGGATCGAGGCAGAGCAGCCAGGAGTGGGCCATTTCCTGCAGGCCCCAATACTCCCATGCCAGTCTAGCTCAGCAGGCAGAGAAGACTAACCCTTCGTGGGGCTGGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGAAAACTCTGTCTCTACTAAAAATACAAAAATTAGGCAATGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGCCTGAGGCAGAAGAACTGCTTGAACCCGGGAGGAGGAGGTTGCAATGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCTGTCTCAAAAAAAAAGAAAAAAAAAAAAGAAAACTCACCATTTGCAGATTTGAAGGCAGGAAGCTAAGCCAAGCACAGCTAGCTTGGCTGTGCCTGGAGCAGCCAGAGTCACTCCCCACACTGCCTGTCCCCCAGATCCCCCATCCTAAGCTTCGCCTCCCCATCCAGCCCATCTGGCAAAAGACAGAGCCAAAGGCTGCCTCCTGCTGGCCTCATTTCAGGCTTTGGCTTCTGGGACCTGGTGTCTTTGGGACTGGATTTGTTCCTTGCAGACCTGGACGAAGAGCTGCTGAGAAGTCTCCATGTGTTGTCAGAGACCCCTCCTCTTCCTCAACTCCCTGTGACCCCTGTTGTGCAGACTTGGGGGAAAACAAGGGCACAAGAATTGTCACCCAGCAGGTGGTGTGGGGCTGCTAGGAGGAACAGGGAGTGTCTGCTACTGAGTTCAGGGTTTCTTTAATTTTTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTTTGAGACAGGGTTTTGCTCTGTCACCTAGTCTGGAGTGTAGTGGCGCTATCTGAGCTAACTGCAAACTCTGCCTCCTGGGTTCAAGTGATTCTAGTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGCACCACCATGTCCAGCTAATTTTTGTATTTTTTTCAGTAGAGATGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGAGCTCAGGTGATCTGCCCGCGTCGGCCTGCCAAAGTGCTAGGATTACACCCATAAGCCACTGCGCTCAGCTTAA
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Task1_train_11213
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A mutation found in ASL (argininosuccinate lyase) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Argininosuccinate lyase deficiency
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GCCCTGGCTATCCCACCCCAGGTGAGAGCAGGCTGCTCTGTGCCTCAGTTTCCCCATCTTCATAGTGGAATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGTCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGCCGACAAAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAGAACCCAAACTTTTGGTGTTCAGCCATGTTCCCATGCTCACTCCCAGGGTGGTGACTCTGGGAAGGTCTCAGCCTCCTTGTCTGCCCAGTTAGAATGATCTGATGCCCCTGCTACCATCAGACTTGATAAGTTTCCCAAAGACTCTTTGCAAGAAGCACTGTTCTGGAGGGTGGAGGAGAGACTAATTGTTCTTGCTCTCCTGGCCAGAGTGGGAAGCTTTGGGGTGGCCGGTTTGTGGGTGCAGTGGACCCCATCATGGAGAAGTTCAACGCGTCCATTGCCTACGACCGGCACCTTTGGGAGGTGGATGTTCAAGGCAGCAAAGCCTACAGCAGGGGCCTGGAGAAGGCAGGGCTCCTCACCAAGGCCGAGATGGACCAGATACTCCATGGCCTAGACAAGGTACTTGCCGTGGCCCAAGCCCCACCCAAGGCCCCTTCCCTGTGGCCCCAGGCTCCCACCAAATCCCTGAGCAAACAGTGCAGTGTTGCCCATCTGTGGTTTCACATTGAACTAATTATATACTCAAGTGCTGTTTAACTGTGTGCCTTGATGACTGCCTCTCTCCATCCTTTAATGACCCCTGTGGCCCACATGGCTCATGGGTAAAGGTGTGCTGGGCCTGAGATGCCCCCTCCCAGGGTGCGCTTCCAGGACTCAGCTCCTGGGCAGGGACAGTCAGTCACCAGGGATAGGGTGGGACCAAGGCAGGGGCTCTCTTGGCTGCTGATGCCTGCTCACCTGACCCCGGCATTGCTGCTACCCACTACAGGTGGCTGAGGAGTGGGCCCAGGGCACCTTCAAACTGAACTCCAATGATGAGGACATCCACACAGCCAATGAGCGCCGCCTGAAGGTACGACCCCTGGAGCCCCACCGCTTTCCTTGCCTCCCCTCTCCACCTTGCCCAGGGCCACTTTGAGCATTAGCACCATTCTGTTTACTTCGCCATTGGCAGACAGCATGTGAGACCTCAGGACATGAGCCAGGCACCCTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGACCAGGAGTTCGAGACCAGCCTGGGCAACATAATGAGGTCCCACAGCTACAAAAATTAAAAAAAGAAAAGAAAAAAAGAACAGGCCTCAGCAGAAATGGCGAGAGATTTGGGGAGGACCCGGAGCCCTGGGGTATGGAGGTAGGTTGGCAGGGCTGATGAGGAAAACTGCCCTGCCTGGGTTGACTCCTCTGGGGGTATAGACCGTGACCCTGGGTCTCCCTTCACCTCCAGGAGCTCATTGGTGCAACGGCAGGGAAGCTGCACACGGGACGGAGCCGGAATGACCAGGTGCTTTAGCCCCTCCACCCCCTGCTCCGTGTTGTCCCAACCTTGAGGAGCCCAGGGGGCAGTTAGAGTTCTGCAGCGGTCCTGGCTCCTCAGGGAAGCAACACATCGGCCTCCCTGAGCACCATCTCCTCCTTGCACAGGTGGTCACAGACCTCAGGCTGTGGATGCGGCAGACCTGCTCCACGCTCTCGGGCCTCCTCTGGGAGCTCATTAGGACCATGGTGGATCGGGCAGAGGCGTGAGTCCTACAGGGACACCCAGGGGGCAGACAGAGGTGTGATGGAAGCCTGAACAGGAGACCTAGGGGGCAGGGGTGAACAGCGTGGGGGTGCCAGGCCCTGGGGGACAGGGGCATCCCAGAACTCCAGGATCGAGGCAGAGCAGCCAGGAGTGGGCCATTTCCTGCAGGCCCCAATACTCCCATGCCAGTCTAGCTCAGCAGGCAGAGAAGACTAACCCTTCGTGGGGCTGGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGAAAACTCTGTCTCTACTAAAAATACAAAAATTAGGCAATGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGCCTGAGGCAGAAGAACTGCTTGAACCCGGGAGGAGGAGGTTGCAATGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCTGTCTCAAAAAAAAAGAAAAAAAAAAAAGAAAACTCACCATTTGCAGATTTGAAGGCAGGAAGCTAAGCCAAGCACAGCTAGCTTGGCTGTGCCTGGAGCAGCCAGAGTCACTCCCCACACTGCCTGTCCCCCAGATCCCCCATCCTAAGCTTCGCCTCCCCATCCAGCCCATCTGGCAAAAGACAGAGCCAAAGGCTGCCTCCTGCTGGCCTCATTTCAGGCTTTGGCTTCTGGGACCTGGTGTCTTTGGGACTGGATTTGTTCCTTGCAGACCTGGACGAAGAGCTGCTGAGAAGTCTCCATGTGTTGTCAGAGACCCCTCCTCTTCCTCAACTCCCTGTGACCCCTGTTGTGCAGACTTGGGGGAAAACAAGGGCACAAGAATTGTCACCCAGCAGGTGGTGTGGGGCTGCTAGGAGGAACAGGGAGTGTCTGCTACTGAGTTCAGGGTTTCTTTAATTTTTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTTTGAGACAGGGTTTTGCTCTGTCACCTAGTCTGGAGTGTAGTGGCGCTATCTGAGCTAACTGCAAACTCTGCCTCCTGGGTTCAAGTGATTCTAGTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGCACCACCATGTCCAGCTAATTTTTGTATTTTTTTCAGTAGAGATGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGAGCTCAGGTGATCTGCCCGCGTCGGCCTGCCAAAGTGCTAGGATTACACCCATAAGCCACTGCGCTCAGCTTAATTTTTAAATTTTTAACTTTTTAAATTGTCTTTAGAGATGAGATCCTGCTCTGTCACCTAGGCTGGAGTGCAATGGCTTGGTAATAGCTCACTGCAGTCTCAAACTCCTGGACTCAAATGATCCTCCCACCTCAGCTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAAT
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GCCCTGGCTATCCCACCCCAGGTGAGAGCAGGCTGCTCTGTGCCTCAGTTTCCCCATCTTCATAGTGGAATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGTCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGCCGACAAAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAGAACCCAAACTTTTGGTGTTCAGCCATGTTCCCATGCTCACTCCCAGGGTGGTGACTCTGGGAAGGTCTCAGCCTCCTTGTCTGCCCAGTTAGAATGATCTGATGCCCCTGCTACCATCAGACTTGATAAGTTTCCCAAAGACTCTTTGCAAGAAGCACTGTTCTGGAGGGTGGAGGAGAGACTAATTGTTCTTGCTCTCCTGGCCAGAGTGGGAAGCTTTGGGGTGGCCGGTTTGTGGGTGCAGTGGACCCCATCATGGAGAAGTTCAACGCGTCCATTGCCTACGACCGGCACCTTTGGGAGGTGGATGTTCAAGGCAGCAAAGCCTACAGCAGGGGCCTGGAGAAGGCAGGGCTCCTCACCAAGGCCGAGATGGACCAGATACTCCATGGCCTAGACAAGGTACTTGCCGTGGCCCAAGCCCCACCCAAGGCCCCTTCCCTGTGGCCCCAGGCTCCCACCAAATCCCTGAGCAAACAGTGCAGTGTTGCCCATCTGTGGTTTCACATTGAACTAATTATATACTCAAGTGCTGTTTAACTGTGTGCCTTGATGACTGCCTCTCTCCATCCTTTAATGACCCCTGTGGCCCACATGGCTCATGGGTAAAGGTGTGCTGGGCCTGAGATGCCCCCTCCCAGGGTGCGCTTCCAGGACTCAGCTCCTGGGCAGGGACAGTCAGTCACCAGGGATAGGGTGGGACCAAGGCAGGGGCTCTCTTGGCTGCTGATGCCTGCTCACCTGACCCCGGCATTGCTGCTACCCACTACAGGTGGCTGAGGAGTGGGCCCAGGGCACCTTCAAACTGAACTCCAATGATGAGGACATCCACACAGCCAATGAGCGCCGCCTGAAGGTACGACCCCTGGAGCCCCACCGCTTTCCTTGCCTCCCCTCTCCACCTTGCCCAGGGCCACTTTGAGCATTAGCACCATTCTGTTTACTTCGCCATTGGCAGACAGCATGTGAGACCTCAGGACATGAGCCAGGCACCCTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGACCAGGAGTTCGAGACCAGCCTGGGCAACATAATGAGGTCCCACAGCTACAAAAATTAAAAAAAGAAAAGAAAAAAAGAACAGGCCTCAGCAGAAATGGCGAGAGATTTGGGGAGGACCCGGAGCCCTGGGGTATGGAGGTAGGTTGGCAGGGCTGATGAGGAAAACTGCCCTGCCTGGGTTGACTCCTCTGGGGGTATAGACCGTGACCCTGGGTCTCCCTTCACCTCCAGGAGCTCATTGGTGCAACGGCAGGGAAGCTGCACACGGGACGGAGCCGGAATGACCAGGTGCTTTAGCCCCTCCACCCCCTGCTCCGTGTTGTCCCAACCTTGAGGAGCCCAGGGGGCAGTTAGAGTTCTGCAGCGGTCCTGGCTCCTCAGGGAAGCAACACATCGGCCTCCCTGAGCACCATCTCCTCCTTGCACAGGTGGTCACAGACCTCAGGCTGTGGATGCCGCAGACCTGCTCCACGCTCTCGGGCCTCCTCTGGGAGCTCATTAGGACCATGGTGGATCGGGCAGAGGCGTGAGTCCTACAGGGACACCCAGGGGGCAGACAGAGGTGTGATGGAAGCCTGAACAGGAGACCTAGGGGGCAGGGGTGAACAGCGTGGGGGTGCCAGGCCCTGGGGGACAGGGGCATCCCAGAACTCCAGGATCGAGGCAGAGCAGCCAGGAGTGGGCCATTTCCTGCAGGCCCCAATACTCCCATGCCAGTCTAGCTCAGCAGGCAGAGAAGACTAACCCTTCGTGGGGCTGGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGAAAACTCTGTCTCTACTAAAAATACAAAAATTAGGCAATGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGCCTGAGGCAGAAGAACTGCTTGAACCCGGGAGGAGGAGGTTGCAATGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCTGTCTCAAAAAAAAAGAAAAAAAAAAAAGAAAACTCACCATTTGCAGATTTGAAGGCAGGAAGCTAAGCCAAGCACAGCTAGCTTGGCTGTGCCTGGAGCAGCCAGAGTCACTCCCCACACTGCCTGTCCCCCAGATCCCCCATCCTAAGCTTCGCCTCCCCATCCAGCCCATCTGGCAAAAGACAGAGCCAAAGGCTGCCTCCTGCTGGCCTCATTTCAGGCTTTGGCTTCTGGGACCTGGTGTCTTTGGGACTGGATTTGTTCCTTGCAGACCTGGACGAAGAGCTGCTGAGAAGTCTCCATGTGTTGTCAGAGACCCCTCCTCTTCCTCAACTCCCTGTGACCCCTGTTGTGCAGACTTGGGGGAAAACAAGGGCACAAGAATTGTCACCCAGCAGGTGGTGTGGGGCTGCTAGGAGGAACAGGGAGTGTCTGCTACTGAGTTCAGGGTTTCTTTAATTTTTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTTTGAGACAGGGTTTTGCTCTGTCACCTAGTCTGGAGTGTAGTGGCGCTATCTGAGCTAACTGCAAACTCTGCCTCCTGGGTTCAAGTGATTCTAGTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGCACCACCATGTCCAGCTAATTTTTGTATTTTTTTCAGTAGAGATGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGAGCTCAGGTGATCTGCCCGCGTCGGCCTGCCAAAGTGCTAGGATTACACCCATAAGCCACTGCGCTCAGCTTAATTTTTAAATTTTTAACTTTTTAAATTGTCTTTAGAGATGAGATCCTGCTCTGTCACCTAGGCTGGAGTGCAATGGCTTGGTAATAGCTCACTGCAGTCTCAAACTCCTGGACTCAAATGATCCTCCCACCTCAGCTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAAT
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Task1_train_11214
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The gene ASL (argininosuccinate lyase) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Argininosuccinate lyase deficiency
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TCATAGTGGAATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGTCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGCCGACAAAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAGAACCCAAACTTTTGGTGTTCAGCCATGTTCCCATGCTCACTCCCAGGGTGGTGACTCTGGGAAGGTCTCAGCCTCCTTGTCTGCCCAGTTAGAATGATCTGATGCCCCTGCTACCATCAGACTTGATAAGTTTCCCAAAGACTCTTTGCAAGAAGCACTGTTCTGGAGGGTGGAGGAGAGACTAATTGTTCTTGCTCTCCTGGCCAGAGTGGGAAGCTTTGGGGTGGCCGGTTTGTGGGTGCAGTGGACCCCATCATGGAGAAGTTCAACGCGTCCATTGCCTACGACCGGCACCTTTGGGAGGTGGATGTTCAAGGCAGCAAAGCCTACAGCAGGGGCCTGGAGAAGGCAGGGCTCCTCACCAAGGCCGAGATGGACCAGATACTCCATGGCCTAGACAAGGTACTTGCCGTGGCCCAAGCCCCACCCAAGGCCCCTTCCCTGTGGCCCCAGGCTCCCACCAAATCCCTGAGCAAACAGTGCAGTGTTGCCCATCTGTGGTTTCACATTGAACTAATTATATACTCAAGTGCTGTTTAACTGTGTGCCTTGATGACTGCCTCTCTCCATCCTTTAATGACCCCTGTGGCCCACATGGCTCATGGGTAAAGGTGTGCTGGGCCTGAGATGCCCCCTCCCAGGGTGCGCTTCCAGGACTCAGCTCCTGGGCAGGGACAGTCAGTCACCAGGGATAGGGTGGGACCAAGGCAGGGGCTCTCTTGGCTGCTGATGCCTGCTCACCTGACCCCGGCATTGCTGCTACCCACTACAGGTGGCTGAGGAGTGGGCCCAGGGCACCTTCAAACTGAACTCCAATGATGAGGACATCCACACAGCCAATGAGCGCCGCCTGAAGGTACGACCCCTGGAGCCCCACCGCTTTCCTTGCCTCCCCTCTCCACCTTGCCCAGGGCCACTTTGAGCATTAGCACCATTCTGTTTACTTCGCCATTGGCAGACAGCATGTGAGACCTCAGGACATGAGCCAGGCACCCTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGACCAGGAGTTCGAGACCAGCCTGGGCAACATAATGAGGTCCCACAGCTACAAAAATTAAAAAAAGAAAAGAAAAAAAGAACAGGCCTCAGCAGAAATGGCGAGAGATTTGGGGAGGACCCGGAGCCCTGGGGTATGGAGGTAGGTTGGCAGGGCTGATGAGGAAAACTGCCCTGCCTGGGTTGACTCCTCTGGGGGTATAGACCGTGACCCTGGGTCTCCCTTCACCTCCAGGAGCTCATTGGTGCAACGGCAGGGAAGCTGCACACGGGACGGAGCCGGAATGACCAGGTGCTTTAGCCCCTCCACCCCCTGCTCCGTGTTGTCCCAACCTTGAGGAGCCCAGGGGGCAGTTAGAGTTCTGCAGCGGTCCTGGCTCCTCAGGGAAGCAACACATCGGCCTCCCTGAGCACCATCTCCTCCTTGCACAGGTGGTCACAGACCTCAGGCTGTGGATGCGGCAGACCTGCTCCACGCTCTCGGGCCTCCTCTGGGAGCTCATTAGGACCATGGTGGATCGGGCAGAGGCGTGAGTCCTACAGGGACACCCAGGGGGCAGACAGAGGTGTGATGGAAGCCTGAACAGGAGACCTAGGGGGCAGGGGTGAACAGCGTGGGGGTGCCAGGCCCTGGGGGACAGGGGCATCCCAGAACTCCAGGATCGAGGCAGAGCAGCCAGGAGTGGGCCATTTCCTGCAGGCCCCAATACTCCCATGCCAGTCTAGCTCAGCAGGCAGAGAAGACTAACCCTTCGTGGGGCTGGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGAAAACTCTGTCTCTACTAAAAATACAAAAATTAGGCAATGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGCCTGAGGCAGAAGAACTGCTTGAACCCGGGAGGAGGAGGTTGCAATGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCTGTCTCAAAAAAAAAGAAAAAAAAAAAAGAAAACTCACCATTTGCAGATTTGAAGGCAGGAAGCTAAGCCAAGCACAGCTAGCTTGGCTGTGCCTGGAGCAGCCAGAGTCACTCCCCACACTGCCTGTCCCCCAGATCCCCCATCCTAAGCTTCGCCTCCCCATCCAGCCCATCTGGCAAAAGACAGAGCCAAAGGCTGCCTCCTGCTGGCCTCATTTCAGGCTTTGGCTTCTGGGACCTGGTGTCTTTGGGACTGGATTTGTTCCTTGCAGACCTGGACGAAGAGCTGCTGAGAAGTCTCCATGTGTTGTCAGAGACCCCTCCTCTTCCTCAACTCCCTGTGACCCCTGTTGTGCAGACTTGGGGGAAAACAAGGGCACAAGAATTGTCACCCAGCAGGTGGTGTGGGGCTGCTAGGAGGAACAGGGAGTGTCTGCTACTGAGTTCAGGGTTTCTTTAATTTTTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTTTGAGACAGGGTTTTGCTCTGTCACCTAGTCTGGAGTGTAGTGGCGCTATCTGAGCTAACTGCAAACTCTGCCTCCTGGGTTCAAGTGATTCTAGTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGCACCACCATGTCCAGCTAATTTTTGTATTTTTTTCAGTAGAGATGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGAGCTCAGGTGATCTGCCCGCGTCGGCCTGCCAAAGTGCTAGGATTACACCCATAAGCCACTGCGCTCAGCTTAATTTTTAAATTTTTAACTTTTTAAATTGTCTTTAGAGATGAGATCCTGCTCTGTCACCTAGGCTGGAGTGCAATGGCTTGGTAATAGCTCACTGCAGTCTCAAACTCCTGGACTCAAATGATCCTCCCACCTCAGCTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCT
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TCATAGTGGAATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGTCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGCCGACAAAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAGAACCCAAACTTTTGGTGTTCAGCCATGTTCCCATGCTCACTCCCAGGGTGGTGACTCTGGGAAGGTCTCAGCCTCCTTGTCTGCCCAGTTAGAATGATCTGATGCCCCTGCTACCATCAGACTTGATAAGTTTCCCAAAGACTCTTTGCAAGAAGCACTGTTCTGGAGGGTGGAGGAGAGACTAATTGTTCTTGCTCTCCTGGCCAGAGTGGGAAGCTTTGGGGTGGCCGGTTTGTGGGTGCAGTGGACCCCATCATGGAGAAGTTCAACGCGTCCATTGCCTACGACCGGCACCTTTGGGAGGTGGATGTTCAAGGCAGCAAAGCCTACAGCAGGGGCCTGGAGAAGGCAGGGCTCCTCACCAAGGCCGAGATGGACCAGATACTCCATGGCCTAGACAAGGTACTTGCCGTGGCCCAAGCCCCACCCAAGGCCCCTTCCCTGTGGCCCCAGGCTCCCACCAAATCCCTGAGCAAACAGTGCAGTGTTGCCCATCTGTGGTTTCACATTGAACTAATTATATACTCAAGTGCTGTTTAACTGTGTGCCTTGATGACTGCCTCTCTCCATCCTTTAATGACCCCTGTGGCCCACATGGCTCATGGGTAAAGGTGTGCTGGGCCTGAGATGCCCCCTCCCAGGGTGCGCTTCCAGGACTCAGCTCCTGGGCAGGGACAGTCAGTCACCAGGGATAGGGTGGGACCAAGGCAGGGGCTCTCTTGGCTGCTGATGCCTGCTCACCTGACCCCGGCATTGCTGCTACCCACTACAGGTGGCTGAGGAGTGGGCCCAGGGCACCTTCAAACTGAACTCCAATGATGAGGACATCCACACAGCCAATGAGCGCCGCCTGAAGGTACGACCCCTGGAGCCCCACCGCTTTCCTTGCCTCCCCTCTCCACCTTGCCCAGGGCCACTTTGAGCATTAGCACCATTCTGTTTACTTCGCCATTGGCAGACAGCATGTGAGACCTCAGGACATGAGCCAGGCACCCTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGACCAGGAGTTCGAGACCAGCCTGGGCAACATAATGAGGTCCCACAGCTACAAAAATTAAAAAAAGAAAAGAAAAAAAGAACAGGCCTCAGCAGAAATGGCGAGAGATTTGGGGAGGACCCGGAGCCCTGGGGTATGGAGGTAGGTTGGCAGGGCTGATGAGGAAAACTGCCCTGCCTGGGTTGACTCCTCTGGGGGTATAGACCGTGACCCTGGGTCTCCCTTCACCTCCAGGAGCTCATTGGTGCAACGGCAGGGAAGCTGCACACGGGACGGAGCCGGAATGACCAGGTGCTTTAGCCCCTCCACCCCCTGCTCCGTGTTGTCCCAACCTTGAGGAGCCCAGGGGGCAGTTAGAGTTCTGCAGCGGTCCTGGCTCCTCAGGGAAGCAACACATCGGCCTCCCTGAGCACCATCTCCTCCTTGCACAGGTGGTCACAGACCTCAGGCTGTGGATGCGGCAGACCTGCTCCACGCTCTCGGGCCTCCTCTGGGAGCTCATTAGGACCATGGTGGATTGGGCAGAGGCGTGAGTCCTACAGGGACACCCAGGGGGCAGACAGAGGTGTGATGGAAGCCTGAACAGGAGACCTAGGGGGCAGGGGTGAACAGCGTGGGGGTGCCAGGCCCTGGGGGACAGGGGCATCCCAGAACTCCAGGATCGAGGCAGAGCAGCCAGGAGTGGGCCATTTCCTGCAGGCCCCAATACTCCCATGCCAGTCTAGCTCAGCAGGCAGAGAAGACTAACCCTTCGTGGGGCTGGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGAAAACTCTGTCTCTACTAAAAATACAAAAATTAGGCAATGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGCCTGAGGCAGAAGAACTGCTTGAACCCGGGAGGAGGAGGTTGCAATGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCTGTCTCAAAAAAAAAGAAAAAAAAAAAAGAAAACTCACCATTTGCAGATTTGAAGGCAGGAAGCTAAGCCAAGCACAGCTAGCTTGGCTGTGCCTGGAGCAGCCAGAGTCACTCCCCACACTGCCTGTCCCCCAGATCCCCCATCCTAAGCTTCGCCTCCCCATCCAGCCCATCTGGCAAAAGACAGAGCCAAAGGCTGCCTCCTGCTGGCCTCATTTCAGGCTTTGGCTTCTGGGACCTGGTGTCTTTGGGACTGGATTTGTTCCTTGCAGACCTGGACGAAGAGCTGCTGAGAAGTCTCCATGTGTTGTCAGAGACCCCTCCTCTTCCTCAACTCCCTGTGACCCCTGTTGTGCAGACTTGGGGGAAAACAAGGGCACAAGAATTGTCACCCAGCAGGTGGTGTGGGGCTGCTAGGAGGAACAGGGAGTGTCTGCTACTGAGTTCAGGGTTTCTTTAATTTTTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTTTGAGACAGGGTTTTGCTCTGTCACCTAGTCTGGAGTGTAGTGGCGCTATCTGAGCTAACTGCAAACTCTGCCTCCTGGGTTCAAGTGATTCTAGTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGCACCACCATGTCCAGCTAATTTTTGTATTTTTTTCAGTAGAGATGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGAGCTCAGGTGATCTGCCCGCGTCGGCCTGCCAAAGTGCTAGGATTACACCCATAAGCCACTGCGCTCAGCTTAATTTTTAAATTTTTAACTTTTTAAATTGTCTTTAGAGATGAGATCCTGCTCTGTCACCTAGGCTGGAGTGCAATGGCTTGGTAATAGCTCACTGCAGTCTCAAACTCCTGGACTCAAATGATCCTCCCACCTCAGCTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCT
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Task1_train_11215
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This variant affects the gene ASL (argininosuccinate lyase) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Argininosuccinate lyase deficiency
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ATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGTCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGCCGACAAAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAGAACCCAAACTTTTGGTGTTCAGCCATGTTCCCATGCTCACTCCCAGGGTGGTGACTCTGGGAAGGTCTCAGCCTCCTTGTCTGCCCAGTTAGAATGATCTGATGCCCCTGCTACCATCAGACTTGATAAGTTTCCCAAAGACTCTTTGCAAGAAGCACTGTTCTGGAGGGTGGAGGAGAGACTAATTGTTCTTGCTCTCCTGGCCAGAGTGGGAAGCTTTGGGGTGGCCGGTTTGTGGGTGCAGTGGACCCCATCATGGAGAAGTTCAACGCGTCCATTGCCTACGACCGGCACCTTTGGGAGGTGGATGTTCAAGGCAGCAAAGCCTACAGCAGGGGCCTGGAGAAGGCAGGGCTCCTCACCAAGGCCGAGATGGACCAGATACTCCATGGCCTAGACAAGGTACTTGCCGTGGCCCAAGCCCCACCCAAGGCCCCTTCCCTGTGGCCCCAGGCTCCCACCAAATCCCTGAGCAAACAGTGCAGTGTTGCCCATCTGTGGTTTCACATTGAACTAATTATATACTCAAGTGCTGTTTAACTGTGTGCCTTGATGACTGCCTCTCTCCATCCTTTAATGACCCCTGTGGCCCACATGGCTCATGGGTAAAGGTGTGCTGGGCCTGAGATGCCCCCTCCCAGGGTGCGCTTCCAGGACTCAGCTCCTGGGCAGGGACAGTCAGTCACCAGGGATAGGGTGGGACCAAGGCAGGGGCTCTCTTGGCTGCTGATGCCTGCTCACCTGACCCCGGCATTGCTGCTACCCACTACAGGTGGCTGAGGAGTGGGCCCAGGGCACCTTCAAACTGAACTCCAATGATGAGGACATCCACACAGCCAATGAGCGCCGCCTGAAGGTACGACCCCTGGAGCCCCACCGCTTTCCTTGCCTCCCCTCTCCACCTTGCCCAGGGCCACTTTGAGCATTAGCACCATTCTGTTTACTTCGCCATTGGCAGACAGCATGTGAGACCTCAGGACATGAGCCAGGCACCCTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGACCAGGAGTTCGAGACCAGCCTGGGCAACATAATGAGGTCCCACAGCTACAAAAATTAAAAAAAGAAAAGAAAAAAAGAACAGGCCTCAGCAGAAATGGCGAGAGATTTGGGGAGGACCCGGAGCCCTGGGGTATGGAGGTAGGTTGGCAGGGCTGATGAGGAAAACTGCCCTGCCTGGGTTGACTCCTCTGGGGGTATAGACCGTGACCCTGGGTCTCCCTTCACCTCCAGGAGCTCATTGGTGCAACGGCAGGGAAGCTGCACACGGGACGGAGCCGGAATGACCAGGTGCTTTAGCCCCTCCACCCCCTGCTCCGTGTTGTCCCAACCTTGAGGAGCCCAGGGGGCAGTTAGAGTTCTGCAGCGGTCCTGGCTCCTCAGGGAAGCAACACATCGGCCTCCCTGAGCACCATCTCCTCCTTGCACAGGTGGTCACAGACCTCAGGCTGTGGATGCGGCAGACCTGCTCCACGCTCTCGGGCCTCCTCTGGGAGCTCATTAGGACCATGGTGGATCGGGCAGAGGCGTGAGTCCTACAGGGACACCCAGGGGGCAGACAGAGGTGTGATGGAAGCCTGAACAGGAGACCTAGGGGGCAGGGGTGAACAGCGTGGGGGTGCCAGGCCCTGGGGGACAGGGGCATCCCAGAACTCCAGGATCGAGGCAGAGCAGCCAGGAGTGGGCCATTTCCTGCAGGCCCCAATACTCCCATGCCAGTCTAGCTCAGCAGGCAGAGAAGACTAACCCTTCGTGGGGCTGGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGAAAACTCTGTCTCTACTAAAAATACAAAAATTAGGCAATGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGCCTGAGGCAGAAGAACTGCTTGAACCCGGGAGGAGGAGGTTGCAATGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCTGTCTCAAAAAAAAAGAAAAAAAAAAAAGAAAACTCACCATTTGCAGATTTGAAGGCAGGAAGCTAAGCCAAGCACAGCTAGCTTGGCTGTGCCTGGAGCAGCCAGAGTCACTCCCCACACTGCCTGTCCCCCAGATCCCCCATCCTAAGCTTCGCCTCCCCATCCAGCCCATCTGGCAAAAGACAGAGCCAAAGGCTGCCTCCTGCTGGCCTCATTTCAGGCTTTGGCTTCTGGGACCTGGTGTCTTTGGGACTGGATTTGTTCCTTGCAGACCTGGACGAAGAGCTGCTGAGAAGTCTCCATGTGTTGTCAGAGACCCCTCCTCTTCCTCAACTCCCTGTGACCCCTGTTGTGCAGACTTGGGGGAAAACAAGGGCACAAGAATTGTCACCCAGCAGGTGGTGTGGGGCTGCTAGGAGGAACAGGGAGTGTCTGCTACTGAGTTCAGGGTTTCTTTAATTTTTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTTTGAGACAGGGTTTTGCTCTGTCACCTAGTCTGGAGTGTAGTGGCGCTATCTGAGCTAACTGCAAACTCTGCCTCCTGGGTTCAAGTGATTCTAGTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGCACCACCATGTCCAGCTAATTTTTGTATTTTTTTCAGTAGAGATGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGAGCTCAGGTGATCTGCCCGCGTCGGCCTGCCAAAGTGCTAGGATTACACCCATAAGCCACTGCGCTCAGCTTAATTTTTAAATTTTTAACTTTTTAAATTGTCTTTAGAGATGAGATCCTGCTCTGTCACCTAGGCTGGAGTGCAATGGCTTGGTAATAGCTCACTGCAGTCTCAAACTCCTGGACTCAAATGATCCTCCCACCTCAGCTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTA
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ATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGTCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGCCGACAAAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAGAACCCAAACTTTTGGTGTTCAGCCATGTTCCCATGCTCACTCCCAGGGTGGTGACTCTGGGAAGGTCTCAGCCTCCTTGTCTGCCCAGTTAGAATGATCTGATGCCCCTGCTACCATCAGACTTGATAAGTTTCCCAAAGACTCTTTGCAAGAAGCACTGTTCTGGAGGGTGGAGGAGAGACTAATTGTTCTTGCTCTCCTGGCCAGAGTGGGAAGCTTTGGGGTGGCCGGTTTGTGGGTGCAGTGGACCCCATCATGGAGAAGTTCAACGCGTCCATTGCCTACGACCGGCACCTTTGGGAGGTGGATGTTCAAGGCAGCAAAGCCTACAGCAGGGGCCTGGAGAAGGCAGGGCTCCTCACCAAGGCCGAGATGGACCAGATACTCCATGGCCTAGACAAGGTACTTGCCGTGGCCCAAGCCCCACCCAAGGCCCCTTCCCTGTGGCCCCAGGCTCCCACCAAATCCCTGAGCAAACAGTGCAGTGTTGCCCATCTGTGGTTTCACATTGAACTAATTATATACTCAAGTGCTGTTTAACTGTGTGCCTTGATGACTGCCTCTCTCCATCCTTTAATGACCCCTGTGGCCCACATGGCTCATGGGTAAAGGTGTGCTGGGCCTGAGATGCCCCCTCCCAGGGTGCGCTTCCAGGACTCAGCTCCTGGGCAGGGACAGTCAGTCACCAGGGATAGGGTGGGACCAAGGCAGGGGCTCTCTTGGCTGCTGATGCCTGCTCACCTGACCCCGGCATTGCTGCTACCCACTACAGGTGGCTGAGGAGTGGGCCCAGGGCACCTTCAAACTGAACTCCAATGATGAGGACATCCACACAGCCAATGAGCGCCGCCTGAAGGTACGACCCCTGGAGCCCCACCGCTTTCCTTGCCTCCCCTCTCCACCTTGCCCAGGGCCACTTTGAGCATTAGCACCATTCTGTTTACTTCGCCATTGGCAGACAGCATGTGAGACCTCAGGACATGAGCCAGGCACCCTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGACCAGGAGTTCGAGACCAGCCTGGGCAACATAATGAGGTCCCACAGCTACAAAAATTAAAAAAAGAAAAGAAAAAAAGAACAGGCCTCAGCAGAAATGGCGAGAGATTTGGGGAGGACCCGGAGCCCTGGGGTATGGAGGTAGGTTGGCAGGGCTGATGAGGAAAACTGCCCTGCCTGGGTTGACTCCTCTGGGGGTATAGACCGTGACCCTGGGTCTCCCTTCACCTCCAGGAGCTCATTGGTGCAACGGCAGGGAAGCTGCACACGGGACGGAGCCGGAATGACCAGGTGCTTTAGCCCCTCCACCCCCTGCTCCGTGTTGTCCCAACCTTGAGGAGCCCAGGGGGCAGTTAGAGTTCTGCAGCGGTCCTGGCTCCTCAGGGAAGCAACACATCGGCCTCCCTGAGCACCATCTCCTCCTTGCACAGGTGGTCACAGACCTCAGGCTGTGGATGCGGCAGACCTGCTCCACGCTCTCGGGCCTCCTCTGGGAGCTCATTAGGACCATGGTGGATCGGGCAGAGGTGTGAGTCCTACAGGGACACCCAGGGGGCAGACAGAGGTGTGATGGAAGCCTGAACAGGAGACCTAGGGGGCAGGGGTGAACAGCGTGGGGGTGCCAGGCCCTGGGGGACAGGGGCATCCCAGAACTCCAGGATCGAGGCAGAGCAGCCAGGAGTGGGCCATTTCCTGCAGGCCCCAATACTCCCATGCCAGTCTAGCTCAGCAGGCAGAGAAGACTAACCCTTCGTGGGGCTGGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGAAAACTCTGTCTCTACTAAAAATACAAAAATTAGGCAATGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGCCTGAGGCAGAAGAACTGCTTGAACCCGGGAGGAGGAGGTTGCAATGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCTGTCTCAAAAAAAAAGAAAAAAAAAAAAGAAAACTCACCATTTGCAGATTTGAAGGCAGGAAGCTAAGCCAAGCACAGCTAGCTTGGCTGTGCCTGGAGCAGCCAGAGTCACTCCCCACACTGCCTGTCCCCCAGATCCCCCATCCTAAGCTTCGCCTCCCCATCCAGCCCATCTGGCAAAAGACAGAGCCAAAGGCTGCCTCCTGCTGGCCTCATTTCAGGCTTTGGCTTCTGGGACCTGGTGTCTTTGGGACTGGATTTGTTCCTTGCAGACCTGGACGAAGAGCTGCTGAGAAGTCTCCATGTGTTGTCAGAGACCCCTCCTCTTCCTCAACTCCCTGTGACCCCTGTTGTGCAGACTTGGGGGAAAACAAGGGCACAAGAATTGTCACCCAGCAGGTGGTGTGGGGCTGCTAGGAGGAACAGGGAGTGTCTGCTACTGAGTTCAGGGTTTCTTTAATTTTTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTTTGAGACAGGGTTTTGCTCTGTCACCTAGTCTGGAGTGTAGTGGCGCTATCTGAGCTAACTGCAAACTCTGCCTCCTGGGTTCAAGTGATTCTAGTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGCACCACCATGTCCAGCTAATTTTTGTATTTTTTTCAGTAGAGATGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGAGCTCAGGTGATCTGCCCGCGTCGGCCTGCCAAAGTGCTAGGATTACACCCATAAGCCACTGCGCTCAGCTTAATTTTTAAATTTTTAACTTTTTAAATTGTCTTTAGAGATGAGATCCTGCTCTGTCACCTAGGCTGGAGTGCAATGGCTTGGTAATAGCTCACTGCAGTCTCAAACTCCTGGACTCAAATGATCCTCCCACCTCAGCTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTA
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Task1_train_11216
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A change on Chromosome 7 affects gene ASL (argininosuccinate lyase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Argininosuccinate lyase deficiency
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CTCACTGCAGTCTCAAACTCCTGGACTCAAATGATCCTCCCACCTCAGCTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGAATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCC
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CTCACTGCAGTCTCAAACTCCTGGACTCAAATGATCCTCCCACCTCAGCTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGAATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCCCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCC
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Task1_train_11217
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This genomic variant is located on Chromosome 7, within the ASL (argininosuccinate lyase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; not specified
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CTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGAATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCG
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CTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGAATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAACCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCG
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Task1_train_11218
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A genetic alteration is present in ASL (argininosuccinate lyase) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Argininosuccinate lyase deficiency
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CTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGAATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCG
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CTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGAATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAACCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCG
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Task1_train_11219
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Located on Chromosome 7, this mutation impacts ASL (argininosuccinate lyase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Argininosuccinate lyase deficiency
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TCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGAATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTT
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TCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGAATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCATGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTT
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Task1_train_11220
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Consider this mutation in ASL (argininosuccinate lyase) on Chromosome 7. Is this a benign change or a disease-causing variant?
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Pathogenic; Inborn genetic diseases
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TCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGAATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTT
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TCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGAATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCATGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTT
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Task1_train_11221
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Located on Chromosome 7, this mutation impacts ASL (argininosuccinate lyase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Inborn genetic diseases
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TCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGAATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGG
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TCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGAATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCAGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGG
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Task1_train_11222
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This genomic variant is located on Chromosome 7, within the ASL (argininosuccinate lyase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Argininosuccinate lyase deficiency
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TCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGAATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGG
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TCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACCGTGCCTGGCCTTGAGTACAGAATTTCTTCATGGGGTGATGAAAATGTTCTAAAATTGGTTGTGGTGATGGTTGTACAGTAAAGTGTAAACTTTAAATGAGTAAATTGTGAATGATATCTCAGTAAAGCTGGTTTATTTAAAACAACAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGAATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCAGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGG
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Task1_train_11223
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An alteration has been detected in ASL (argininosuccinate lyase) on Chromosome 7. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Argininosuccinate lyase deficiency
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TGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACAC
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TGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGTAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACAC
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Task1_train_11224
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This variant affects gene ASL (argininosuccinate lyase) located on Chromosome 7. Evaluate its biological effect and specify any disease association.
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Pathogenic; not specified
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TGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACAC
|
TGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTGCAATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGTAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACAC
|
Task1_train_11225
|
A genetic alteration is present in ASL (argininosuccinate lyase) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; not specified
|
TTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGG
|
TTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCGTGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGG
|
Task1_train_11226
|
This variant impacts the gene ASL (argininosuccinate lyase) on Chromosome 7. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Argininosuccinate lyase deficiency
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TTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGG
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TTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCGTGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGG
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Task1_train_11227
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Here is a mutation in ASL (argininosuccinate lyase) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Argininosuccinate lyase deficiency
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TCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAG
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TCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGCATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAG
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Task1_train_11228
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Located on Chromosome 7, this mutation impacts ASL (argininosuccinate lyase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Argininosuccinate lyase deficiency
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CCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAGGAGAGGTGTGCTCGC
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CCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACTGCACTCCAGTCTGGGCAACAGAACGAGACCTTGTCTCTAAAAATAAAAACAAAACAAAACAACAAGAAAACAGGACCATCACTCACAGCACCTCTGCCTCTGCCCTGCCTACTTGAATGAGGTGCAGGGCATCTCACCTGCTCAGAGCAGCCCTTGAATGAGCCCCAGCTATTTCTAGGGTCCTCAAACGAAACCTCCCACGGCCAAGTCATACCCAACATGGGCCTCCTCCCCTATTCTGGCCCCTGCTCGGAGATGCTGAGTGACAGAGGCTGGACTTGGGGTGTTTCTGGCAAAGCCTCACTGCAGGAAGCCCCACAGCTCAGGCCCAGTCCTTGGTTCACACGGTCCCACTTCCAGCTTCTTTTGCCCTTAAGACTGATTTGTCCCTGGGAGATCACCAGATCCCTCATTCAGGTGGAGTGCTGCAGCGTGACACTTTTTCCAGGGGTGACCCAGGCCTGCAGGGTTCCAGTGTCACAGGCAGGCCTTGCATGAGCCTCCACCCGAGCTTCTGCTCCTCCTCTCCCACAGGGAACGTGATGTTCTCTTCCCGGGGTACACCCATTTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAGGTGAGCCAGGTGAGGTGCAGGGGCTGTGCTAGAGGGGAGGACCCCGGCTGCCCTGACCCTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGTGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAGGAGAGGTGTGCTCGC
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Task1_train_11229
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A variant was discovered in gene ASL (argininosuccinate lyase), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not specified
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CCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAGGAGAGGTGTGCTCGCTCCTGCTCCTGGGGAACAGGGAAAGGACAGAAACTGCTGCCATGCAGTGGAAGTAGATGAGACTCAGGGGGCCTGGGGCCTGTCAAATGGCCTGACCAGAACTCTTTAAAAAAAGAAAATCTAAACAAAAGGCCAGGTGCAGTGGCTCATGCCTGGAATCTCACACTTTGGGAGGCCGAGGCAGATGGAGCACTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCGTAACCACGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGATGGCCCACACCTGTAATCCCAGCTACTCAGGAGGCGGAGGCAGAAGAATAGCTTGAACCCAGGAGATGGAAGTTGTAGTGAGCCAAGATCATGCCGCTGCACTCCAGCCTGGACCACAGAGTAAAACTCCATCTACAAATATATAAATTAAATTAAATTAAATTAAATATCTTTAAAAAACATTTTTTAGAGACAGGGTCACTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGGTCGTAGCTCACTGCAGCCTCAAACTCTTGGGCTCAAGTGATCTTCCCACCTCAGTCTCCAGAGTAGCTGGGACTACAAACATGCGCCACCACGCCTGGCTAATTTTTTTATTTTTTGTAGAGACAGGGTCTCCCTATGTTTCCCAGGCTGGTCTCAAATTCCTGGCCCCAAGCCATCCTCCCACCTTGGTCTCCCAAGGTGCTGGGATTATAGGCATGAGCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGC
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CCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGCGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAGGAGAGGTGTGCTCGCTCCTGCTCCTGGGGAACAGGGAAAGGACAGAAACTGCTGCCATGCAGTGGAAGTAGATGAGACTCAGGGGGCCTGGGGCCTGTCAAATGGCCTGACCAGAACTCTTTAAAAAAAGAAAATCTAAACAAAAGGCCAGGTGCAGTGGCTCATGCCTGGAATCTCACACTTTGGGAGGCCGAGGCAGATGGAGCACTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCGTAACCACGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGATGGCCCACACCTGTAATCCCAGCTACTCAGGAGGCGGAGGCAGAAGAATAGCTTGAACCCAGGAGATGGAAGTTGTAGTGAGCCAAGATCATGCCGCTGCACTCCAGCCTGGACCACAGAGTAAAACTCCATCTACAAATATATAAATTAAATTAAATTAAATTAAATATCTTTAAAAAACATTTTTTAGAGACAGGGTCACTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGGTCGTAGCTCACTGCAGCCTCAAACTCTTGGGCTCAAGTGATCTTCCCACCTCAGTCTCCAGAGTAGCTGGGACTACAAACATGCGCCACCACGCCTGGCTAATTTTTTTATTTTTTGTAGAGACAGGGTCTCCCTATGTTTCCCAGGCTGGTCTCAAATTCCTGGCCCCAAGCCATCCTCCCACCTTGGTCTCCCAAGGTGCTGGGATTATAGGCATGAGCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGC
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Task1_train_11230
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This genomic variant is located on Chromosome 7, within the ASL (argininosuccinate lyase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Argininosuccinate lyase deficiency
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CCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAGGAGAGGTGTGCTCGCTCCTGCTCCTGGGGAACAGGGAAAGGACAGAAACTGCTGCCATGCAGTGGAAGTAGATGAGACTCAGGGGGCCTGGGGCCTGTCAAATGGCCTGACCAGAACTCTTTAAAAAAAGAAAATCTAAACAAAAGGCCAGGTGCAGTGGCTCATGCCTGGAATCTCACACTTTGGGAGGCCGAGGCAGATGGAGCACTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCGTAACCACGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGATGGCCCACACCTGTAATCCCAGCTACTCAGGAGGCGGAGGCAGAAGAATAGCTTGAACCCAGGAGATGGAAGTTGTAGTGAGCCAAGATCATGCCGCTGCACTCCAGCCTGGACCACAGAGTAAAACTCCATCTACAAATATATAAATTAAATTAAATTAAATTAAATATCTTTAAAAAACATTTTTTAGAGACAGGGTCACTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGGTCGTAGCTCACTGCAGCCTCAAACTCTTGGGCTCAAGTGATCTTCCCACCTCAGTCTCCAGAGTAGCTGGGACTACAAACATGCGCCACCACGCCTGGCTAATTTTTTTATTTTTTGTAGAGACAGGGTCTCCCTATGTTTCCCAGGCTGGTCTCAAATTCCTGGCCCCAAGCCATCCTCCCACCTTGGTCTCCCAAGGTGCTGGGATTATAGGCATGAGCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGC
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CCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGCGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAGGAGAGGTGTGCTCGCTCCTGCTCCTGGGGAACAGGGAAAGGACAGAAACTGCTGCCATGCAGTGGAAGTAGATGAGACTCAGGGGGCCTGGGGCCTGTCAAATGGCCTGACCAGAACTCTTTAAAAAAAGAAAATCTAAACAAAAGGCCAGGTGCAGTGGCTCATGCCTGGAATCTCACACTTTGGGAGGCCGAGGCAGATGGAGCACTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCGTAACCACGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGATGGCCCACACCTGTAATCCCAGCTACTCAGGAGGCGGAGGCAGAAGAATAGCTTGAACCCAGGAGATGGAAGTTGTAGTGAGCCAAGATCATGCCGCTGCACTCCAGCCTGGACCACAGAGTAAAACTCCATCTACAAATATATAAATTAAATTAAATTAAATTAAATATCTTTAAAAAACATTTTTTAGAGACAGGGTCACTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGGTCGTAGCTCACTGCAGCCTCAAACTCTTGGGCTCAAGTGATCTTCCCACCTCAGTCTCCAGAGTAGCTGGGACTACAAACATGCGCCACCACGCCTGGCTAATTTTTTTATTTTTTGTAGAGACAGGGTCTCCCTATGTTTCCCAGGCTGGTCTCAAATTCCTGGCCCCAAGCCATCCTCCCACCTTGGTCTCCCAAGGTGCTGGGATTATAGGCATGAGCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGC
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Task1_train_11231
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Gene ASL (argininosuccinate lyase), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Argininosuccinate lyase deficiency
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AATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAGGAGAGGTGTGCTCGCTCCTGCTCCTGGGGAACAGGGAAAGGACAGAAACTGCTGCCATGCAGTGGAAGTAGATGAGACTCAGGGGGCCTGGGGCCTGTCAAATGGCCTGACCAGAACTCTTTAAAAAAAGAAAATCTAAACAAAAGGCCAGGTGCAGTGGCTCATGCCTGGAATCTCACACTTTGGGAGGCCGAGGCAGATGGAGCACTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCGTAACCACGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGATGGCCCACACCTGTAATCCCAGCTACTCAGGAGGCGGAGGCAGAAGAATAGCTTGAACCCAGGAGATGGAAGTTGTAGTGAGCCAAGATCATGCCGCTGCACTCCAGCCTGGACCACAGAGTAAAACTCCATCTACAAATATATAAATTAAATTAAATTAAATTAAATATCTTTAAAAAACATTTTTTAGAGACAGGGTCACTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGGTCGTAGCTCACTGCAGCCTCAAACTCTTGGGCTCAAGTGATCTTCCCACCTCAGTCTCCAGAGTAGCTGGGACTACAAACATGCGCCACCACGCCTGGCTAATTTTTTTATTTTTTGTAGAGACAGGGTCTCCCTATGTTTCCCAGGCTGGTCTCAAATTCCTGGCCCCAAGCCATCCTCCCACCTTGGTCTCCCAAGGTGCTGGGATTATAGGCATGAGCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGA
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AATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGAAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAGGAGAGGTGTGCTCGCTCCTGCTCCTGGGGAACAGGGAAAGGACAGAAACTGCTGCCATGCAGTGGAAGTAGATGAGACTCAGGGGGCCTGGGGCCTGTCAAATGGCCTGACCAGAACTCTTTAAAAAAAGAAAATCTAAACAAAAGGCCAGGTGCAGTGGCTCATGCCTGGAATCTCACACTTTGGGAGGCCGAGGCAGATGGAGCACTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCGTAACCACGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGATGGCCCACACCTGTAATCCCAGCTACTCAGGAGGCGGAGGCAGAAGAATAGCTTGAACCCAGGAGATGGAAGTTGTAGTGAGCCAAGATCATGCCGCTGCACTCCAGCCTGGACCACAGAGTAAAACTCCATCTACAAATATATAAATTAAATTAAATTAAATTAAATATCTTTAAAAAACATTTTTTAGAGACAGGGTCACTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGGTCGTAGCTCACTGCAGCCTCAAACTCTTGGGCTCAAGTGATCTTCCCACCTCAGTCTCCAGAGTAGCTGGGACTACAAACATGCGCCACCACGCCTGGCTAATTTTTTTATTTTTTGTAGAGACAGGGTCTCCCTATGTTTCCCAGGCTGGTCTCAAATTCCTGGCCCCAAGCCATCCTCCCACCTTGGTCTCCCAAGGTGCTGGGATTATAGGCATGAGCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGA
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Task1_train_11232
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Given this variant in gene ASL (argininosuccinate lyase) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Argininosuccinate lyase deficiency
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GGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAGGAGAGGTGTGCTCGCTCCTGCTCCTGGGGAACAGGGAAAGGACAGAAACTGCTGCCATGCAGTGGAAGTAGATGAGACTCAGGGGGCCTGGGGCCTGTCAAATGGCCTGACCAGAACTCTTTAAAAAAAGAAAATCTAAACAAAAGGCCAGGTGCAGTGGCTCATGCCTGGAATCTCACACTTTGGGAGGCCGAGGCAGATGGAGCACTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCGTAACCACGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGATGGCCCACACCTGTAATCCCAGCTACTCAGGAGGCGGAGGCAGAAGAATAGCTTGAACCCAGGAGATGGAAGTTGTAGTGAGCCAAGATCATGCCGCTGCACTCCAGCCTGGACCACAGAGTAAAACTCCATCTACAAATATATAAATTAAATTAAATTAAATTAAATATCTTTAAAAAACATTTTTTAGAGACAGGGTCACTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGGTCGTAGCTCACTGCAGCCTCAAACTCTTGGGCTCAAGTGATCTTCCCACCTCAGTCTCCAGAGTAGCTGGGACTACAAACATGCGCCACCACGCCTGGCTAATTTTTTTATTTTTTGTAGAGACAGGGTCTCCCTATGTTTCCCAGGCTGGTCTCAAATTCCTGGCCCCAAGCCATCCTCCCACCTTGGTCTCCCAAGGTGCTGGGATTATAGGCATGAGCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCAGCACCAG
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GGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCGGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAGGAGAGGTGTGCTCGCTCCTGCTCCTGGGGAACAGGGAAAGGACAGAAACTGCTGCCATGCAGTGGAAGTAGATGAGACTCAGGGGGCCTGGGGCCTGTCAAATGGCCTGACCAGAACTCTTTAAAAAAAGAAAATCTAAACAAAAGGCCAGGTGCAGTGGCTCATGCCTGGAATCTCACACTTTGGGAGGCCGAGGCAGATGGAGCACTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCGTAACCACGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGATGGCCCACACCTGTAATCCCAGCTACTCAGGAGGCGGAGGCAGAAGAATAGCTTGAACCCAGGAGATGGAAGTTGTAGTGAGCCAAGATCATGCCGCTGCACTCCAGCCTGGACCACAGAGTAAAACTCCATCTACAAATATATAAATTAAATTAAATTAAATTAAATATCTTTAAAAAACATTTTTTAGAGACAGGGTCACTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGGTCGTAGCTCACTGCAGCCTCAAACTCTTGGGCTCAAGTGATCTTCCCACCTCAGTCTCCAGAGTAGCTGGGACTACAAACATGCGCCACCACGCCTGGCTAATTTTTTTATTTTTTGTAGAGACAGGGTCTCCCTATGTTTCCCAGGCTGGTCTCAAATTCCTGGCCCCAAGCCATCCTCCCACCTTGGTCTCCCAAGGTGCTGGGATTATAGGCATGAGCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCAGCACCAG
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Task1_train_11233
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Gene ASL (argininosuccinate lyase) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; not specified
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CCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAGGAGAGGTGTGCTCGCTCCTGCTCCTGGGGAACAGGGAAAGGACAGAAACTGCTGCCATGCAGTGGAAGTAGATGAGACTCAGGGGGCCTGGGGCCTGTCAAATGGCCTGACCAGAACTCTTTAAAAAAAGAAAATCTAAACAAAAGGCCAGGTGCAGTGGCTCATGCCTGGAATCTCACACTTTGGGAGGCCGAGGCAGATGGAGCACTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCGTAACCACGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGATGGCCCACACCTGTAATCCCAGCTACTCAGGAGGCGGAGGCAGAAGAATAGCTTGAACCCAGGAGATGGAAGTTGTAGTGAGCCAAGATCATGCCGCTGCACTCCAGCCTGGACCACAGAGTAAAACTCCATCTACAAATATATAAATTAAATTAAATTAAATTAAATATCTTTAAAAAACATTTTTTAGAGACAGGGTCACTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGGTCGTAGCTCACTGCAGCCTCAAACTCTTGGGCTCAAGTGATCTTCCCACCTCAGTCTCCAGAGTAGCTGGGACTACAAACATGCGCCACCACGCCTGGCTAATTTTTTTATTTTTTGTAGAGACAGGGTCTCCCTATGTTTCCCAGGCTGGTCTCAAATTCCTGGCCCCAAGCCATCCTCCCACCTTGGTCTCCCAAGGTGCTGGGATTATAGGCATGAGCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCAGCACCAGCATCACCTCAGAAGTCCTGAGAAATGTGATGT
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CCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCTGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAGGAGAGGTGTGCTCGCTCCTGCTCCTGGGGAACAGGGAAAGGACAGAAACTGCTGCCATGCAGTGGAAGTAGATGAGACTCAGGGGGCCTGGGGCCTGTCAAATGGCCTGACCAGAACTCTTTAAAAAAAGAAAATCTAAACAAAAGGCCAGGTGCAGTGGCTCATGCCTGGAATCTCACACTTTGGGAGGCCGAGGCAGATGGAGCACTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCGTAACCACGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGATGGCCCACACCTGTAATCCCAGCTACTCAGGAGGCGGAGGCAGAAGAATAGCTTGAACCCAGGAGATGGAAGTTGTAGTGAGCCAAGATCATGCCGCTGCACTCCAGCCTGGACCACAGAGTAAAACTCCATCTACAAATATATAAATTAAATTAAATTAAATTAAATATCTTTAAAAAACATTTTTTAGAGACAGGGTCACTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGGTCGTAGCTCACTGCAGCCTCAAACTCTTGGGCTCAAGTGATCTTCCCACCTCAGTCTCCAGAGTAGCTGGGACTACAAACATGCGCCACCACGCCTGGCTAATTTTTTTATTTTTTGTAGAGACAGGGTCTCCCTATGTTTCCCAGGCTGGTCTCAAATTCCTGGCCCCAAGCCATCCTCCCACCTTGGTCTCCCAAGGTGCTGGGATTATAGGCATGAGCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCAGCACCAGCATCACCTCAGAAGTCCTGAGAAATGTGATGT
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Task1_train_11234
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A genomic change on Chromosome 7 affects ASL (argininosuccinate lyase). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Argininosuccinate lyase deficiency
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CCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAGGAGAGGTGTGCTCGCTCCTGCTCCTGGGGAACAGGGAAAGGACAGAAACTGCTGCCATGCAGTGGAAGTAGATGAGACTCAGGGGGCCTGGGGCCTGTCAAATGGCCTGACCAGAACTCTTTAAAAAAAGAAAATCTAAACAAAAGGCCAGGTGCAGTGGCTCATGCCTGGAATCTCACACTTTGGGAGGCCGAGGCAGATGGAGCACTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCGTAACCACGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGATGGCCCACACCTGTAATCCCAGCTACTCAGGAGGCGGAGGCAGAAGAATAGCTTGAACCCAGGAGATGGAAGTTGTAGTGAGCCAAGATCATGCCGCTGCACTCCAGCCTGGACCACAGAGTAAAACTCCATCTACAAATATATAAATTAAATTAAATTAAATTAAATATCTTTAAAAAACATTTTTTAGAGACAGGGTCACTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGGTCGTAGCTCACTGCAGCCTCAAACTCTTGGGCTCAAGTGATCTTCCCACCTCAGTCTCCAGAGTAGCTGGGACTACAAACATGCGCCACCACGCCTGGCTAATTTTTTTATTTTTTGTAGAGACAGGGTCTCCCTATGTTTCCCAGGCTGGTCTCAAATTCCTGGCCCCAAGCCATCCTCCCACCTTGGTCTCCCAAGGTGCTGGGATTATAGGCATGAGCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCAGCACCAGCATCACCTCAGAAGTCCTGAGAAATGTGATGT
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CCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTCCCCCCAGCTGTTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCATGGTGGTTCACCATGCCCAGCACTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAATTTAGCTGGGTGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGTTCTGAGGCCAGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAATAAAATAAAATAAAATAAAAATAAATAGGCCAGGCATGGTGGCTCACGCCCGTAATCCTAGCACTTTGGGAGTCCGAGGCAGGTGGATCACATGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGCACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGAAGGAGATTCGCTGGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGTGCATTGGGAGCGAGACTCCATCTCAATAAATAAATAAATAAATAAATGGATAAATTGTATGTGAGTGATAACTCAGTAAAGCTGGTTTATTTAAAACAACAACAATAACAAAAAACACGCTAGGTGCAATGGCTTACGTTTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGAAGGATTGCTTGAGCCCACAAGTTTCAGAACAGCTTGGGCGACATAGCACGACCCCATCTTTGCGAAAAATGAAAATTTAGCCGGGTCCCCCCACCGCCTAACCTCCTCCTGCCCCCTGTATGGTCAGGCTGGGTGGGGATGGGAGAGGCCTGGTGACTGGGAACCTTTTCTCCCAGCCGAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTCATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAGGTAAGCCCTGAACTGCCACCTCCATCTGCCGCTGCCGGCCTCTGTATCCCCCGCCGCCCGCGGACGTGGCTGCCTTCCTCCCCGTCCCACCCCTCCGCCAGACCTGGCCATTGCGGCGCTGGACCAGCCAAGGGTCCAGCCCCTTCAGCGCCAGCACCTCTGTCCCCAGCACGGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCTGGAGCAAGGCTGGGCGTGTGTTTGGGCGGGTGAGCAAGGCAGGGGGAGGGGCGGGGCCTCTGGGCTGATGGTGGGTGGCCAGGGGGGCAGGATCCCGGGTCCAGCCCCTGTGCCTCCCTCTTCCCGCAGTGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACCTACAACAAAGACTTACAGGTGCGAGGCCGGGGGAGGCCTGGCTAGTACGTGCCAGTTCTCAGGGCTCTGGCACACTCAGGCAGGGCCCCACCCCGGGATTGCCATACATCCTCCCATCCTGTGCACACAGCTCCATCCGTGGCTGCCCTTGAACTCTCTGCCCTTCCTTTGTTGGGGTATTGAGTGTTCTTCCCATGGAAGGCAGTGGGGATGCCTCAGTGGGGGGGTGGGGCTGTGGGGACCCTGGGTGCCAGGGGGCTGCTAGGCCCTCACCTCCTGCCATGTGCCTCCCAGGAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGTGCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTCCCCTAGGTCCCAGGCACTGGGGTGGGCATGCGGGGAGGGTGGCCTTGGGAGGAGGTGAGGTGGGGCTGGAGGACCTGGGGCAGGGAAGGAGAGGTGTGCTCGCTCCTGCTCCTGGGGAACAGGGAAAGGACAGAAACTGCTGCCATGCAGTGGAAGTAGATGAGACTCAGGGGGCCTGGGGCCTGTCAAATGGCCTGACCAGAACTCTTTAAAAAAAGAAAATCTAAACAAAAGGCCAGGTGCAGTGGCTCATGCCTGGAATCTCACACTTTGGGAGGCCGAGGCAGATGGAGCACTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCGTAACCACGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGATGGCCCACACCTGTAATCCCAGCTACTCAGGAGGCGGAGGCAGAAGAATAGCTTGAACCCAGGAGATGGAAGTTGTAGTGAGCCAAGATCATGCCGCTGCACTCCAGCCTGGACCACAGAGTAAAACTCCATCTACAAATATATAAATTAAATTAAATTAAATTAAATATCTTTAAAAAACATTTTTTAGAGACAGGGTCACTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGGTCGTAGCTCACTGCAGCCTCAAACTCTTGGGCTCAAGTGATCTTCCCACCTCAGTCTCCAGAGTAGCTGGGACTACAAACATGCGCCACCACGCCTGGCTAATTTTTTTATTTTTTGTAGAGACAGGGTCTCCCTATGTTTCCCAGGCTGGTCTCAAATTCCTGGCCCCAAGCCATCCTCCCACCTTGGTCTCCCAAGGTGCTGGGATTATAGGCATGAGCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCAGCACCAGCATCACCTCAGAAGTCCTGAGAAATGTGATGT
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Task1_train_11235
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The gene ASL (argininosuccinate lyase) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Argininosuccinate lyase deficiency
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GCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCAGCACCAGCATCACCTCAGAAGTCCTGAGAAATGTGATGTGAGGCCCCACTCCAGATGGCTGAATCAGAGACTCTGGGGGTGCTCCCCAGCAATTTGTATTTTTCTTAGTAAATTCTCCAGTGGCTAGGCCTGGTGGCTCATGCTTGTAATCCCAGCACTTTGAGAAGCTGAGGCAGGAGAAGCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGAGCAACATAGCGAGACCTTGTCTGTAAAATTAAAAAAATTAAATTAGCCAGTCGTGATGGCGTGTACCTGTGGTCCCAGCCACTTAGGAGACTGATGTGGGAGGATCCCTTGAGCCCAGGAGCTCAAGGATGCAGAGAGCCAGGATTGTGCCATTGCACTCCAACATGGGCGACCCTGTCTCAAAAAAGCCCAAAACAACAACAACAAATTAGCTAGGCACGGTGGTGTGCATGGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTGGAAGATCCCTTGAGTCCAGGCTGCAGAGGGCTATAATGGCCACTGCACTCCAGCCTGGACAACAGAGCAAGACCCTGTCTCCTAAAACAGAAAACAAATCCTCCAGGAACATCTGATGCATGCTGAAGATAAGGACTCTTTGAAAACATAAAGGCCAGTAAAACATACAGGCCAGTAAGTGTTCATAGCACATGTAAATATTATCGATAATTATGAGAAGATGGTTCAAGTTGAGAGTGAGACAGAGCCGAGTGGGTAAGAGAGTATCTGCCCAAGGCAGGGATGTCCTGGCAGAGGGGCAGGTCCTGGGCCTGGCAGCTTCAGATCCCAGGGTCCCCAGGGCTCACCACTCGCCCACCTGTGCCCCCAGATTCACCAAGAGAACATGGGACAGGCTCTCAGCCCCGACATGCTGGCCACTGACCTTGCCTATTACCTGGTCCGCAAAGGGGTAAGTGTGTAGCAGCCAGGGGGAGGGTGAGGAGATGGGGTGCCCCCCCCAGAGGGTGGGGGAGCTCAGGAATGGGTGCAAGCGGCCCAGCCTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGCGGGTCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTCTCTTTTGATGTAAAAATACAACAATTAGCTGGGTGTGGTGGCACACTCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACTGGGAGGTGGAGTTTGCGGTGAGGTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTTTGTGTCAAAAAGAAAAAAAAAAAAAAAAGGAAGGGGGTGCAGGCAATGGAGGCAGATCAGGGCATGGAGAAACCTGCCTCAGCGCCATCTTCCTCCCTGGCACCCAGATGCCATTCCGCCAGGCCCACGAGGCCTCCGGGAAAGCTGTGTTCATGGCCGAGACCAAGGGGGTCGCCCTCAACCAGCTGTCACTGCAGGAGCTGCAGACCATCAGGTACGGCCCATCCCCTTCCCCATGCTGCCTCCTAGGAAGTGAGCCTGGGTGCCTGGAGCCCAGGGTGGCCTGGCGCCCTGGCCCACCTCTTCCTCTCTCCCCAGCCCCCTGTTCTCGGGCGACGTGATCTGCGTGTGGGACTACGGGCACAGTGTGGAGCAGTATGGTGCCCTGGGCGGCACTGCGCGCTCCAGCGTCGACTGGCAGATCCGCCAGGTGCGGGCGCTACTGCAGGCACAGCAGGCCTAGGTCCTCCCACACCTGCCCCCTAATAAAGTGGGCGCGAGAGGAGGCTGCTGTGTGTTTCCTGCCCCAGCCTGGCTCCCTCGTTGCTGGGCTTTCGGGGCTGGCCAGTGGGGACAGTCAGGGACTGGAGAGGCAGGGCAGGGTGGCCTGTAATCCCAGCACTTTGGAAGGGCAAGGTGCGAGGATGCTTGAGGCCAGGAGTTTGACACAGCCTGGGCAACACAGGGAGACCCCCATCTCTACTCAATAATAAAACAAATAGCCTGGCGTGGTGGCCCATGCATATAGTCCCAGCTACTTGTAAGGCTGAGGTGAGAGGACACTTGTGCCCAGGAGTGGAGGCTGCAGTGAGCTATGATCACGCCACTGCATTCCAGCCTGGATAACAGAGTGAGAACCTATCTCTAAAAATAAATAAATAAACGAAAAATAAATGGAAGCGGAGAAAACTGGGCAAGGGCAATGAGAGTCGTAGACGGGAAGGGAAGAGGGGGCTCCCATCATAGCCTCTGCTCTGTCCAGGCCCCATCCCCTTCAGACAGGGTATCACAGTGACCTCCTAGGCCAGGAGCGATGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCCTGGGCAACAGGAAGACTCCAACTACCATATTAAAAAAAACATGAATGAAAGCAAAAACAAAACAACTAGCCAAACTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTAGGAGGCTGAGGCTGGTGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTAATAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCCATAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACAGGTTGCAGCAAGCCAAGACTGCATTACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTAAAAACAACAACAAAAACTAGCCAGTTGTGGTGGTATGTGCCTATAGTCCCAGCTACGTGGAAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGCAGTGGGAGGCTGCAGTGAGCTGTGATGGCACCACTGTCCTCCAGTCTGGGAAACAGAGCAAGACCCTGTCCCTAAAAGACAAAAAATAAGAAATGTCTGAAACTTATATTTTATTAACAACAAAGACAAACAAGCTAAACTCAAGGAAGAATGAATAACCCCTACCACGTGATTTTGGGAGCAATGACAGATTTTGTTAAAGAACCAAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTTCCTGGGCGTGGTGGTACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAAGTAGACTGTGTCTCAAAAAAAAAAAAAGAACCAAAAGCCAGACCCCAGCAGTGAGGATGTGACACCAAATCCCCAAAAGGGTCAAAGCTCTGGGTCACAGATAAAATCTTCCAGAGCAGTTGTTCTCAGACTGTCATTCCTGGCCATCATAATTTTCACCAAGGAGCTTAGAAATGCAAACTTTCTGGCTGGGCACAGTGGCTTATGCC
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GCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCAGCACCAGCATCACCTCAGAAGTCCTGAGAAATGTGATGTGAGGCCCCACTCCAGATGGCTGAATCAGAGACTCTGGGGGTGCTCCCCAGCAATTTGTATTTTTCTTAGTAAATTCTCCAGTGGCTAGGCCTGGTGGCTCATGCTTGTAATCCCAGCACTTTGAGAAGCTGAGGCAGGAGAAGCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGAGCAACATAGCGAGACCTTGTCTGTAAAATTAAAAAAATTAAATTAGCCAGTCGTGATGGCGTGTACCTGTGGTCCCAGCCACTTAGGAGACTGATGTGGGAGGATCCCTTGAGCCCAGGAGCTCAAGGATGCAGAGAGCCAGGATTGTGCCATTGCACTCCAACATGGGCGACCCTGTCTCAAAAAAGCCCAAAACAACAACAACAAATTAGCTAGGCACGGTGGTGTGCATGGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTGGAAGATCCCTTGAGTCCAGGCTGCAGAGGGCTATAATGGCCACTGCACTCCAGCCTGGACAACAGAGCAAGACCCTGTCTCCTAAAACAGAAAACAAATCCTCCAGGAACATCTGATGCATGCTGAAGATAAGGACTCTTTGAAAACATAAAGGCCAGTAAAACATACAGGCCAGTAAGTGTTCATAGCACATGTAAATATTATCGATAATTATGAGAAGATGGTTCAAGTTGAGAGTGAGACAGAGCCGAGTGGGTAAGAGAGTATCTGCCCAAGGCAGGGATGTCCTGGCAGAGGGGCAGGTCCTGGGCCTGGCAGCTTCAGATCCCAGGGTCCCCAGGGCTCACCACTCGCCCACCTGTGCCCCCAGATTCACCAAGAGAACATGGGACAGGCTCTCAGCCCCGACATGCTGGCCACTGACCTTGCCTATTACCTGGTCCGCAAAGGGGTAAGTGTGTAGCAGCCAGGGGGAGGGTGAGGAGATGGGGTGCCCCCCCCAGAGGGTGGGGGAGCTCAGGAATGGGTGCAAGCGGCCCAGCCTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGCGGGTCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTCTCTTTTGATGTAAAAATACAACAATTAGCTGGGTGTGGTGGCACACTCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACTGGGAGGTGGAGTTTGCGGTGAGGTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTTTGTGTCAAAAAGAAAAAAAAAAAAAAAAGGAAGGGGGTGCAGGCAATGGAGGCAGATCAGGGCATGGAGAAACCTGCCTCAGCGCCATCTTCCTCCCTGGCACCCAGATGCCATTCCGCCAGGCCCACGAGGCCTCCGGGAAAGCTGTGTTCATGGACGAGACCAAGGGGGTCGCCCTCAACCAGCTGTCACTGCAGGAGCTGCAGACCATCAGGTACGGCCCATCCCCTTCCCCATGCTGCCTCCTAGGAAGTGAGCCTGGGTGCCTGGAGCCCAGGGTGGCCTGGCGCCCTGGCCCACCTCTTCCTCTCTCCCCAGCCCCCTGTTCTCGGGCGACGTGATCTGCGTGTGGGACTACGGGCACAGTGTGGAGCAGTATGGTGCCCTGGGCGGCACTGCGCGCTCCAGCGTCGACTGGCAGATCCGCCAGGTGCGGGCGCTACTGCAGGCACAGCAGGCCTAGGTCCTCCCACACCTGCCCCCTAATAAAGTGGGCGCGAGAGGAGGCTGCTGTGTGTTTCCTGCCCCAGCCTGGCTCCCTCGTTGCTGGGCTTTCGGGGCTGGCCAGTGGGGACAGTCAGGGACTGGAGAGGCAGGGCAGGGTGGCCTGTAATCCCAGCACTTTGGAAGGGCAAGGTGCGAGGATGCTTGAGGCCAGGAGTTTGACACAGCCTGGGCAACACAGGGAGACCCCCATCTCTACTCAATAATAAAACAAATAGCCTGGCGTGGTGGCCCATGCATATAGTCCCAGCTACTTGTAAGGCTGAGGTGAGAGGACACTTGTGCCCAGGAGTGGAGGCTGCAGTGAGCTATGATCACGCCACTGCATTCCAGCCTGGATAACAGAGTGAGAACCTATCTCTAAAAATAAATAAATAAACGAAAAATAAATGGAAGCGGAGAAAACTGGGCAAGGGCAATGAGAGTCGTAGACGGGAAGGGAAGAGGGGGCTCCCATCATAGCCTCTGCTCTGTCCAGGCCCCATCCCCTTCAGACAGGGTATCACAGTGACCTCCTAGGCCAGGAGCGATGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCCTGGGCAACAGGAAGACTCCAACTACCATATTAAAAAAAACATGAATGAAAGCAAAAACAAAACAACTAGCCAAACTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTAGGAGGCTGAGGCTGGTGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTAATAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCCATAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACAGGTTGCAGCAAGCCAAGACTGCATTACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTAAAAACAACAACAAAAACTAGCCAGTTGTGGTGGTATGTGCCTATAGTCCCAGCTACGTGGAAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGCAGTGGGAGGCTGCAGTGAGCTGTGATGGCACCACTGTCCTCCAGTCTGGGAAACAGAGCAAGACCCTGTCCCTAAAAGACAAAAAATAAGAAATGTCTGAAACTTATATTTTATTAACAACAAAGACAAACAAGCTAAACTCAAGGAAGAATGAATAACCCCTACCACGTGATTTTGGGAGCAATGACAGATTTTGTTAAAGAACCAAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTTCCTGGGCGTGGTGGTACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAAGTAGACTGTGTCTCAAAAAAAAAAAAAGAACCAAAAGCCAGACCCCAGCAGTGAGGATGTGACACCAAATCCCCAAAAGGGTCAAAGCTCTGGGTCACAGATAAAATCTTCCAGAGCAGTTGTTCTCAGACTGTCATTCCTGGCCATCATAATTTTCACCAAGGAGCTTAGAAATGCAAACTTTCTGGCTGGGCACAGTGGCTTATGCC
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Task1_train_11236
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Gene ASL (argininosuccinate lyase) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Argininosuccinate lyase deficiency
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CTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCAGCACCAGCATCACCTCAGAAGTCCTGAGAAATGTGATGTGAGGCCCCACTCCAGATGGCTGAATCAGAGACTCTGGGGGTGCTCCCCAGCAATTTGTATTTTTCTTAGTAAATTCTCCAGTGGCTAGGCCTGGTGGCTCATGCTTGTAATCCCAGCACTTTGAGAAGCTGAGGCAGGAGAAGCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGAGCAACATAGCGAGACCTTGTCTGTAAAATTAAAAAAATTAAATTAGCCAGTCGTGATGGCGTGTACCTGTGGTCCCAGCCACTTAGGAGACTGATGTGGGAGGATCCCTTGAGCCCAGGAGCTCAAGGATGCAGAGAGCCAGGATTGTGCCATTGCACTCCAACATGGGCGACCCTGTCTCAAAAAAGCCCAAAACAACAACAACAAATTAGCTAGGCACGGTGGTGTGCATGGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTGGAAGATCCCTTGAGTCCAGGCTGCAGAGGGCTATAATGGCCACTGCACTCCAGCCTGGACAACAGAGCAAGACCCTGTCTCCTAAAACAGAAAACAAATCCTCCAGGAACATCTGATGCATGCTGAAGATAAGGACTCTTTGAAAACATAAAGGCCAGTAAAACATACAGGCCAGTAAGTGTTCATAGCACATGTAAATATTATCGATAATTATGAGAAGATGGTTCAAGTTGAGAGTGAGACAGAGCCGAGTGGGTAAGAGAGTATCTGCCCAAGGCAGGGATGTCCTGGCAGAGGGGCAGGTCCTGGGCCTGGCAGCTTCAGATCCCAGGGTCCCCAGGGCTCACCACTCGCCCACCTGTGCCCCCAGATTCACCAAGAGAACATGGGACAGGCTCTCAGCCCCGACATGCTGGCCACTGACCTTGCCTATTACCTGGTCCGCAAAGGGGTAAGTGTGTAGCAGCCAGGGGGAGGGTGAGGAGATGGGGTGCCCCCCCCAGAGGGTGGGGGAGCTCAGGAATGGGTGCAAGCGGCCCAGCCTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGCGGGTCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTCTCTTTTGATGTAAAAATACAACAATTAGCTGGGTGTGGTGGCACACTCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACTGGGAGGTGGAGTTTGCGGTGAGGTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTTTGTGTCAAAAAGAAAAAAAAAAAAAAAAGGAAGGGGGTGCAGGCAATGGAGGCAGATCAGGGCATGGAGAAACCTGCCTCAGCGCCATCTTCCTCCCTGGCACCCAGATGCCATTCCGCCAGGCCCACGAGGCCTCCGGGAAAGCTGTGTTCATGGCCGAGACCAAGGGGGTCGCCCTCAACCAGCTGTCACTGCAGGAGCTGCAGACCATCAGGTACGGCCCATCCCCTTCCCCATGCTGCCTCCTAGGAAGTGAGCCTGGGTGCCTGGAGCCCAGGGTGGCCTGGCGCCCTGGCCCACCTCTTCCTCTCTCCCCAGCCCCCTGTTCTCGGGCGACGTGATCTGCGTGTGGGACTACGGGCACAGTGTGGAGCAGTATGGTGCCCTGGGCGGCACTGCGCGCTCCAGCGTCGACTGGCAGATCCGCCAGGTGCGGGCGCTACTGCAGGCACAGCAGGCCTAGGTCCTCCCACACCTGCCCCCTAATAAAGTGGGCGCGAGAGGAGGCTGCTGTGTGTTTCCTGCCCCAGCCTGGCTCCCTCGTTGCTGGGCTTTCGGGGCTGGCCAGTGGGGACAGTCAGGGACTGGAGAGGCAGGGCAGGGTGGCCTGTAATCCCAGCACTTTGGAAGGGCAAGGTGCGAGGATGCTTGAGGCCAGGAGTTTGACACAGCCTGGGCAACACAGGGAGACCCCCATCTCTACTCAATAATAAAACAAATAGCCTGGCGTGGTGGCCCATGCATATAGTCCCAGCTACTTGTAAGGCTGAGGTGAGAGGACACTTGTGCCCAGGAGTGGAGGCTGCAGTGAGCTATGATCACGCCACTGCATTCCAGCCTGGATAACAGAGTGAGAACCTATCTCTAAAAATAAATAAATAAACGAAAAATAAATGGAAGCGGAGAAAACTGGGCAAGGGCAATGAGAGTCGTAGACGGGAAGGGAAGAGGGGGCTCCCATCATAGCCTCTGCTCTGTCCAGGCCCCATCCCCTTCAGACAGGGTATCACAGTGACCTCCTAGGCCAGGAGCGATGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCCTGGGCAACAGGAAGACTCCAACTACCATATTAAAAAAAACATGAATGAAAGCAAAAACAAAACAACTAGCCAAACTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTAGGAGGCTGAGGCTGGTGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTAATAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCCATAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACAGGTTGCAGCAAGCCAAGACTGCATTACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTAAAAACAACAACAAAAACTAGCCAGTTGTGGTGGTATGTGCCTATAGTCCCAGCTACGTGGAAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGCAGTGGGAGGCTGCAGTGAGCTGTGATGGCACCACTGTCCTCCAGTCTGGGAAACAGAGCAAGACCCTGTCCCTAAAAGACAAAAAATAAGAAATGTCTGAAACTTATATTTTATTAACAACAAAGACAAACAAGCTAAACTCAAGGAAGAATGAATAACCCCTACCACGTGATTTTGGGAGCAATGACAGATTTTGTTAAAGAACCAAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTTCCTGGGCGTGGTGGTACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAAGTAGACTGTGTCTCAAAAAAAAAAAAAGAACCAAAAGCCAGACCCCAGCAGTGAGGATGTGACACCAAATCCCCAAAAGGGTCAAAGCTCTGGGTCACAGATAAAATCTTCCAGAGCAGTTGTTCTCAGACTGTCATTCCTGGCCATCATAATTTTCACCAAGGAGCTTAGAAATGCAAACTTTCTGGCTGGGCACAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAACCTGGTCAACAGGGTGAAACCCCATCTCTACCAAAAATACAAAAATTAGCCAGGCGTGGTGGGGAATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTT
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CTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCAGCACCAGCATCACCTCAGAAGTCCTGAGAAATGTGATGTGAGGCCCCACTCCAGATGGCTGAATCAGAGACTCTGGGGGTGCTCCCCAGCAATTTGTATTTTTCTTAGTAAATTCTCCAGTGGCTAGGCCTGGTGGCTCATGCTTGTAATCCCAGCACTTTGAGAAGCTGAGGCAGGAGAAGCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGAGCAACATAGCGAGACCTTGTCTGTAAAATTAAAAAAATTAAATTAGCCAGTCGTGATGGCGTGTACCTGTGGTCCCAGCCACTTAGGAGACTGATGTGGGAGGATCCCTTGAGCCCAGGAGCTCAAGGATGCAGAGAGCCAGGATTGTGCCATTGCACTCCAACATGGGCGACCCTGTCTCAAAAAAGCCCAAAACAACAACAACAAATTAGCTAGGCACGGTGGTGTGCATGGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTGGAAGATCCCTTGAGTCCAGGCTGCAGAGGGCTATAATGGCCACTGCACTCCAGCCTGGACAACAGAGCAAGACCCTGTCTCCTAAAACAGAAAACAAATCCTCCAGGAACATCTGATGCATGCTGAAGATAAGGACTCTTTGAAAACATAAAGGCCAGTAAAACATACAGGCCAGTAAGTGTTCATAGCACATGTAAATATTATCGATAATTATGAGAAGATGGTTCAAGTTGAGAGTGAGACAGAGCCGAGTGGGTAAGAGAGTATCTGCCCAAGGCAGGGATGTCCTGGCAGAGGGGCAGGTCCTGGGCCTGGCAGCTTCAGATCCCAGGGTCCCCAGGGCTCACCACTCGCCCACCTGTGCCCCCAGATTCACCAAGAGAACATGGGACAGGCTCTCAGCCCCGACATGCTGGCCACTGACCTTGCCTATTACCTGGTCCGCAAAGGGGTAAGTGTGTAGCAGCCAGGGGGAGGGTGAGGAGATGGGGTGCCCCCCCCAGAGGGTGGGGGAGCTCAGGAATGGGTGCAAGCGGCCCAGCCTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGCGGGTCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTCTCTTTTGATGTAAAAATACAACAATTAGCTGGGTGTGGTGGCACACTCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACTGGGAGGTGGAGTTTGCGGTGAGGTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTTTGTGTCAAAAAGAAAAAAAAAAAAAAAAGGAAGGGGGTGCAGGCAATGGAGGCAGATCAGGGCATGGAGAAACCTGCCTCAGCGCCATCTTCCTCCCTGGCACCCAGATGCCATTCCGCCAGGCCCACGAGGCCTCCGGGAAAGCTGTGTTCATGGCCGAGACCAAGGGGGTCGCCCTCAACCAGCTGTCACTGCAGGAGCTGCAGACCATCAGGTACGGCCCATCCCCTTCCCCATGCTGCCTCCTAGGAAGTGAGCCTGGGTGCCTGGAGCCCAGGGTGGCCTGGCGCCCTGGCCCACCTCTTCCTCTCTCCCCAGCCCCCTGTTCTCGGGCCACGTGATCTGCGTGTGGGACTACGGGCACAGTGTGGAGCAGTATGGTGCCCTGGGCGGCACTGCGCGCTCCAGCGTCGACTGGCAGATCCGCCAGGTGCGGGCGCTACTGCAGGCACAGCAGGCCTAGGTCCTCCCACACCTGCCCCCTAATAAAGTGGGCGCGAGAGGAGGCTGCTGTGTGTTTCCTGCCCCAGCCTGGCTCCCTCGTTGCTGGGCTTTCGGGGCTGGCCAGTGGGGACAGTCAGGGACTGGAGAGGCAGGGCAGGGTGGCCTGTAATCCCAGCACTTTGGAAGGGCAAGGTGCGAGGATGCTTGAGGCCAGGAGTTTGACACAGCCTGGGCAACACAGGGAGACCCCCATCTCTACTCAATAATAAAACAAATAGCCTGGCGTGGTGGCCCATGCATATAGTCCCAGCTACTTGTAAGGCTGAGGTGAGAGGACACTTGTGCCCAGGAGTGGAGGCTGCAGTGAGCTATGATCACGCCACTGCATTCCAGCCTGGATAACAGAGTGAGAACCTATCTCTAAAAATAAATAAATAAACGAAAAATAAATGGAAGCGGAGAAAACTGGGCAAGGGCAATGAGAGTCGTAGACGGGAAGGGAAGAGGGGGCTCCCATCATAGCCTCTGCTCTGTCCAGGCCCCATCCCCTTCAGACAGGGTATCACAGTGACCTCCTAGGCCAGGAGCGATGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCCTGGGCAACAGGAAGACTCCAACTACCATATTAAAAAAAACATGAATGAAAGCAAAAACAAAACAACTAGCCAAACTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTAGGAGGCTGAGGCTGGTGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTAATAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCCATAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACAGGTTGCAGCAAGCCAAGACTGCATTACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTAAAAACAACAACAAAAACTAGCCAGTTGTGGTGGTATGTGCCTATAGTCCCAGCTACGTGGAAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGCAGTGGGAGGCTGCAGTGAGCTGTGATGGCACCACTGTCCTCCAGTCTGGGAAACAGAGCAAGACCCTGTCCCTAAAAGACAAAAAATAAGAAATGTCTGAAACTTATATTTTATTAACAACAAAGACAAACAAGCTAAACTCAAGGAAGAATGAATAACCCCTACCACGTGATTTTGGGAGCAATGACAGATTTTGTTAAAGAACCAAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTTCCTGGGCGTGGTGGTACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAAGTAGACTGTGTCTCAAAAAAAAAAAAAGAACCAAAAGCCAGACCCCAGCAGTGAGGATGTGACACCAAATCCCCAAAAGGGTCAAAGCTCTGGGTCACAGATAAAATCTTCCAGAGCAGTTGTTCTCAGACTGTCATTCCTGGCCATCATAATTTTCACCAAGGAGCTTAGAAATGCAAACTTTCTGGCTGGGCACAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAACCTGGTCAACAGGGTGAAACCCCATCTCTACCAAAAATACAAAAATTAGCCAGGCGTGGTGGGGAATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTT
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Task1_train_11237
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Assess the clinical impact of this variant on gene ASL (argininosuccinate lyase), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; ASL-related disorder
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TGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCAGCACCAGCATCACCTCAGAAGTCCTGAGAAATGTGATGTGAGGCCCCACTCCAGATGGCTGAATCAGAGACTCTGGGGGTGCTCCCCAGCAATTTGTATTTTTCTTAGTAAATTCTCCAGTGGCTAGGCCTGGTGGCTCATGCTTGTAATCCCAGCACTTTGAGAAGCTGAGGCAGGAGAAGCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGAGCAACATAGCGAGACCTTGTCTGTAAAATTAAAAAAATTAAATTAGCCAGTCGTGATGGCGTGTACCTGTGGTCCCAGCCACTTAGGAGACTGATGTGGGAGGATCCCTTGAGCCCAGGAGCTCAAGGATGCAGAGAGCCAGGATTGTGCCATTGCACTCCAACATGGGCGACCCTGTCTCAAAAAAGCCCAAAACAACAACAACAAATTAGCTAGGCACGGTGGTGTGCATGGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTGGAAGATCCCTTGAGTCCAGGCTGCAGAGGGCTATAATGGCCACTGCACTCCAGCCTGGACAACAGAGCAAGACCCTGTCTCCTAAAACAGAAAACAAATCCTCCAGGAACATCTGATGCATGCTGAAGATAAGGACTCTTTGAAAACATAAAGGCCAGTAAAACATACAGGCCAGTAAGTGTTCATAGCACATGTAAATATTATCGATAATTATGAGAAGATGGTTCAAGTTGAGAGTGAGACAGAGCCGAGTGGGTAAGAGAGTATCTGCCCAAGGCAGGGATGTCCTGGCAGAGGGGCAGGTCCTGGGCCTGGCAGCTTCAGATCCCAGGGTCCCCAGGGCTCACCACTCGCCCACCTGTGCCCCCAGATTCACCAAGAGAACATGGGACAGGCTCTCAGCCCCGACATGCTGGCCACTGACCTTGCCTATTACCTGGTCCGCAAAGGGGTAAGTGTGTAGCAGCCAGGGGGAGGGTGAGGAGATGGGGTGCCCCCCCCAGAGGGTGGGGGAGCTCAGGAATGGGTGCAAGCGGCCCAGCCTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGCGGGTCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTCTCTTTTGATGTAAAAATACAACAATTAGCTGGGTGTGGTGGCACACTCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACTGGGAGGTGGAGTTTGCGGTGAGGTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTTTGTGTCAAAAAGAAAAAAAAAAAAAAAAGGAAGGGGGTGCAGGCAATGGAGGCAGATCAGGGCATGGAGAAACCTGCCTCAGCGCCATCTTCCTCCCTGGCACCCAGATGCCATTCCGCCAGGCCCACGAGGCCTCCGGGAAAGCTGTGTTCATGGCCGAGACCAAGGGGGTCGCCCTCAACCAGCTGTCACTGCAGGAGCTGCAGACCATCAGGTACGGCCCATCCCCTTCCCCATGCTGCCTCCTAGGAAGTGAGCCTGGGTGCCTGGAGCCCAGGGTGGCCTGGCGCCCTGGCCCACCTCTTCCTCTCTCCCCAGCCCCCTGTTCTCGGGCGACGTGATCTGCGTGTGGGACTACGGGCACAGTGTGGAGCAGTATGGTGCCCTGGGCGGCACTGCGCGCTCCAGCGTCGACTGGCAGATCCGCCAGGTGCGGGCGCTACTGCAGGCACAGCAGGCCTAGGTCCTCCCACACCTGCCCCCTAATAAAGTGGGCGCGAGAGGAGGCTGCTGTGTGTTTCCTGCCCCAGCCTGGCTCCCTCGTTGCTGGGCTTTCGGGGCTGGCCAGTGGGGACAGTCAGGGACTGGAGAGGCAGGGCAGGGTGGCCTGTAATCCCAGCACTTTGGAAGGGCAAGGTGCGAGGATGCTTGAGGCCAGGAGTTTGACACAGCCTGGGCAACACAGGGAGACCCCCATCTCTACTCAATAATAAAACAAATAGCCTGGCGTGGTGGCCCATGCATATAGTCCCAGCTACTTGTAAGGCTGAGGTGAGAGGACACTTGTGCCCAGGAGTGGAGGCTGCAGTGAGCTATGATCACGCCACTGCATTCCAGCCTGGATAACAGAGTGAGAACCTATCTCTAAAAATAAATAAATAAACGAAAAATAAATGGAAGCGGAGAAAACTGGGCAAGGGCAATGAGAGTCGTAGACGGGAAGGGAAGAGGGGGCTCCCATCATAGCCTCTGCTCTGTCCAGGCCCCATCCCCTTCAGACAGGGTATCACAGTGACCTCCTAGGCCAGGAGCGATGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCCTGGGCAACAGGAAGACTCCAACTACCATATTAAAAAAAACATGAATGAAAGCAAAAACAAAACAACTAGCCAAACTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTAGGAGGCTGAGGCTGGTGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTAATAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCCATAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACAGGTTGCAGCAAGCCAAGACTGCATTACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTAAAAACAACAACAAAAACTAGCCAGTTGTGGTGGTATGTGCCTATAGTCCCAGCTACGTGGAAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGCAGTGGGAGGCTGCAGTGAGCTGTGATGGCACCACTGTCCTCCAGTCTGGGAAACAGAGCAAGACCCTGTCCCTAAAAGACAAAAAATAAGAAATGTCTGAAACTTATATTTTATTAACAACAAAGACAAACAAGCTAAACTCAAGGAAGAATGAATAACCCCTACCACGTGATTTTGGGAGCAATGACAGATTTTGTTAAAGAACCAAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTTCCTGGGCGTGGTGGTACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAAGTAGACTGTGTCTCAAAAAAAAAAAAAGAACCAAAAGCCAGACCCCAGCAGTGAGGATGTGACACCAAATCCCCAAAAGGGTCAAAGCTCTGGGTCACAGATAAAATCTTCCAGAGCAGTTGTTCTCAGACTGTCATTCCTGGCCATCATAATTTTCACCAAGGAGCTTAGAAATGCAAACTTTCTGGCTGGGCACAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAACCTGGTCAACAGGGTGAAACCCCATCTCTACCAAAAATACAAAAATTAGCCAGGCGTGGTGGGGAATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGGGGAGGTTGCAGTGAGCCGAGATCACGACACTGGCTCCAGCCTGGGTGACAGAGCAAGACTCTGTTTCAAAAAACAACAAAAATAAC
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TGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCAGCACCAGCATCACCTCAGAAGTCCTGAGAAATGTGATGTGAGGCCCCACTCCAGATGGCTGAATCAGAGACTCTGGGGGTGCTCCCCAGCAATTTGTATTTTTCTTAGTAAATTCTCCAGTGGCTAGGCCTGGTGGCTCATGCTTGTAATCCCAGCACTTTGAGAAGCTGAGGCAGGAGAAGCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGAGCAACATAGCGAGACCTTGTCTGTAAAATTAAAAAAATTAAATTAGCCAGTCGTGATGGCGTGTACCTGTGGTCCCAGCCACTTAGGAGACTGATGTGGGAGGATCCCTTGAGCCCAGGAGCTCAAGGATGCAGAGAGCCAGGATTGTGCCATTGCACTCCAACATGGGCGACCCTGTCTCAAAAAAGCCCAAAACAACAACAACAAATTAGCTAGGCACGGTGGTGTGCATGGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTGGAAGATCCCTTGAGTCCAGGCTGCAGAGGGCTATAATGGCCACTGCACTCCAGCCTGGACAACAGAGCAAGACCCTGTCTCCTAAAACAGAAAACAAATCCTCCAGGAACATCTGATGCATGCTGAAGATAAGGACTCTTTGAAAACATAAAGGCCAGTAAAACATACAGGCCAGTAAGTGTTCATAGCACATGTAAATATTATCGATAATTATGAGAAGATGGTTCAAGTTGAGAGTGAGACAGAGCCGAGTGGGTAAGAGAGTATCTGCCCAAGGCAGGGATGTCCTGGCAGAGGGGCAGGTCCTGGGCCTGGCAGCTTCAGATCCCAGGGTCCCCAGGGCTCACCACTCGCCCACCTGTGCCCCCAGATTCACCAAGAGAACATGGGACAGGCTCTCAGCCCCGACATGCTGGCCACTGACCTTGCCTATTACCTGGTCCGCAAAGGGGTAAGTGTGTAGCAGCCAGGGGGAGGGTGAGGAGATGGGGTGCCCCCCCCAGAGGGTGGGGGAGCTCAGGAATGGGTGCAAGCGGCCCAGCCTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGCGGGTCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTCTCTTTTGATGTAAAAATACAACAATTAGCTGGGTGTGGTGGCACACTCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACTGGGAGGTGGAGTTTGCGGTGAGGTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTTTGTGTCAAAAAGAAAAAAAAAAAAAAAAGGAAGGGGGTGCAGGCAATGGAGGCAGATCAGGGCATGGAGAAACCTGCCTCAGCGCCATCTTCCTCCCTGGCACCCAGATGCCATTCCGCCAGGCCCACGAGGCCTCCGGGAAAGCTGTGTTCATGGCCGAGACCAAGGGGGTCGCCCTCAACCAGCTGTCACTGCAGGAGCTGCAGACCATCAGGTACGGCCCATCCCCTTCCCCATGCTGCCTCCTAGGAAGTGAGCCTGGGTGCCTGGAGCCCAGGGTGGCCTGGCGCCCTGGCCCACCTCTTCCTCTCTCCCCAGCCCCCTGTTCTCGGGCGACGTGATCTGCGTGTGGGACTACGGGCACAGTGTGGAGCAGTATGGTGCCCTGGGCGGCACTGCGCGCTCCAGCGTCGACTGGCAGATCCGCCAGGTGTGGGCGCTACTGCAGGCACAGCAGGCCTAGGTCCTCCCACACCTGCCCCCTAATAAAGTGGGCGCGAGAGGAGGCTGCTGTGTGTTTCCTGCCCCAGCCTGGCTCCCTCGTTGCTGGGCTTTCGGGGCTGGCCAGTGGGGACAGTCAGGGACTGGAGAGGCAGGGCAGGGTGGCCTGTAATCCCAGCACTTTGGAAGGGCAAGGTGCGAGGATGCTTGAGGCCAGGAGTTTGACACAGCCTGGGCAACACAGGGAGACCCCCATCTCTACTCAATAATAAAACAAATAGCCTGGCGTGGTGGCCCATGCATATAGTCCCAGCTACTTGTAAGGCTGAGGTGAGAGGACACTTGTGCCCAGGAGTGGAGGCTGCAGTGAGCTATGATCACGCCACTGCATTCCAGCCTGGATAACAGAGTGAGAACCTATCTCTAAAAATAAATAAATAAACGAAAAATAAATGGAAGCGGAGAAAACTGGGCAAGGGCAATGAGAGTCGTAGACGGGAAGGGAAGAGGGGGCTCCCATCATAGCCTCTGCTCTGTCCAGGCCCCATCCCCTTCAGACAGGGTATCACAGTGACCTCCTAGGCCAGGAGCGATGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCCTGGGCAACAGGAAGACTCCAACTACCATATTAAAAAAAACATGAATGAAAGCAAAAACAAAACAACTAGCCAAACTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTAGGAGGCTGAGGCTGGTGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTAATAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCCATAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACAGGTTGCAGCAAGCCAAGACTGCATTACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTAAAAACAACAACAAAAACTAGCCAGTTGTGGTGGTATGTGCCTATAGTCCCAGCTACGTGGAAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGCAGTGGGAGGCTGCAGTGAGCTGTGATGGCACCACTGTCCTCCAGTCTGGGAAACAGAGCAAGACCCTGTCCCTAAAAGACAAAAAATAAGAAATGTCTGAAACTTATATTTTATTAACAACAAAGACAAACAAGCTAAACTCAAGGAAGAATGAATAACCCCTACCACGTGATTTTGGGAGCAATGACAGATTTTGTTAAAGAACCAAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTTCCTGGGCGTGGTGGTACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAAGTAGACTGTGTCTCAAAAAAAAAAAAAGAACCAAAAGCCAGACCCCAGCAGTGAGGATGTGACACCAAATCCCCAAAAGGGTCAAAGCTCTGGGTCACAGATAAAATCTTCCAGAGCAGTTGTTCTCAGACTGTCATTCCTGGCCATCATAATTTTCACCAAGGAGCTTAGAAATGCAAACTTTCTGGCTGGGCACAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAACCTGGTCAACAGGGTGAAACCCCATCTCTACCAAAAATACAAAAATTAGCCAGGCGTGGTGGGGAATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGGGGAGGTTGCAGTGAGCCGAGATCACGACACTGGCTCCAGCCTGGGTGACAGAGCAAGACTCTGTTTCAAAAAACAACAAAAATAAC
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Task1_train_11238
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Gene ASL (argininosuccinate lyase) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Argininosuccinate lyase deficiency
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TGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCAGCACCAGCATCACCTCAGAAGTCCTGAGAAATGTGATGTGAGGCCCCACTCCAGATGGCTGAATCAGAGACTCTGGGGGTGCTCCCCAGCAATTTGTATTTTTCTTAGTAAATTCTCCAGTGGCTAGGCCTGGTGGCTCATGCTTGTAATCCCAGCACTTTGAGAAGCTGAGGCAGGAGAAGCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGAGCAACATAGCGAGACCTTGTCTGTAAAATTAAAAAAATTAAATTAGCCAGTCGTGATGGCGTGTACCTGTGGTCCCAGCCACTTAGGAGACTGATGTGGGAGGATCCCTTGAGCCCAGGAGCTCAAGGATGCAGAGAGCCAGGATTGTGCCATTGCACTCCAACATGGGCGACCCTGTCTCAAAAAAGCCCAAAACAACAACAACAAATTAGCTAGGCACGGTGGTGTGCATGGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTGGAAGATCCCTTGAGTCCAGGCTGCAGAGGGCTATAATGGCCACTGCACTCCAGCCTGGACAACAGAGCAAGACCCTGTCTCCTAAAACAGAAAACAAATCCTCCAGGAACATCTGATGCATGCTGAAGATAAGGACTCTTTGAAAACATAAAGGCCAGTAAAACATACAGGCCAGTAAGTGTTCATAGCACATGTAAATATTATCGATAATTATGAGAAGATGGTTCAAGTTGAGAGTGAGACAGAGCCGAGTGGGTAAGAGAGTATCTGCCCAAGGCAGGGATGTCCTGGCAGAGGGGCAGGTCCTGGGCCTGGCAGCTTCAGATCCCAGGGTCCCCAGGGCTCACCACTCGCCCACCTGTGCCCCCAGATTCACCAAGAGAACATGGGACAGGCTCTCAGCCCCGACATGCTGGCCACTGACCTTGCCTATTACCTGGTCCGCAAAGGGGTAAGTGTGTAGCAGCCAGGGGGAGGGTGAGGAGATGGGGTGCCCCCCCCAGAGGGTGGGGGAGCTCAGGAATGGGTGCAAGCGGCCCAGCCTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGCGGGTCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTCTCTTTTGATGTAAAAATACAACAATTAGCTGGGTGTGGTGGCACACTCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACTGGGAGGTGGAGTTTGCGGTGAGGTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTTTGTGTCAAAAAGAAAAAAAAAAAAAAAAGGAAGGGGGTGCAGGCAATGGAGGCAGATCAGGGCATGGAGAAACCTGCCTCAGCGCCATCTTCCTCCCTGGCACCCAGATGCCATTCCGCCAGGCCCACGAGGCCTCCGGGAAAGCTGTGTTCATGGCCGAGACCAAGGGGGTCGCCCTCAACCAGCTGTCACTGCAGGAGCTGCAGACCATCAGGTACGGCCCATCCCCTTCCCCATGCTGCCTCCTAGGAAGTGAGCCTGGGTGCCTGGAGCCCAGGGTGGCCTGGCGCCCTGGCCCACCTCTTCCTCTCTCCCCAGCCCCCTGTTCTCGGGCGACGTGATCTGCGTGTGGGACTACGGGCACAGTGTGGAGCAGTATGGTGCCCTGGGCGGCACTGCGCGCTCCAGCGTCGACTGGCAGATCCGCCAGGTGCGGGCGCTACTGCAGGCACAGCAGGCCTAGGTCCTCCCACACCTGCCCCCTAATAAAGTGGGCGCGAGAGGAGGCTGCTGTGTGTTTCCTGCCCCAGCCTGGCTCCCTCGTTGCTGGGCTTTCGGGGCTGGCCAGTGGGGACAGTCAGGGACTGGAGAGGCAGGGCAGGGTGGCCTGTAATCCCAGCACTTTGGAAGGGCAAGGTGCGAGGATGCTTGAGGCCAGGAGTTTGACACAGCCTGGGCAACACAGGGAGACCCCCATCTCTACTCAATAATAAAACAAATAGCCTGGCGTGGTGGCCCATGCATATAGTCCCAGCTACTTGTAAGGCTGAGGTGAGAGGACACTTGTGCCCAGGAGTGGAGGCTGCAGTGAGCTATGATCACGCCACTGCATTCCAGCCTGGATAACAGAGTGAGAACCTATCTCTAAAAATAAATAAATAAACGAAAAATAAATGGAAGCGGAGAAAACTGGGCAAGGGCAATGAGAGTCGTAGACGGGAAGGGAAGAGGGGGCTCCCATCATAGCCTCTGCTCTGTCCAGGCCCCATCCCCTTCAGACAGGGTATCACAGTGACCTCCTAGGCCAGGAGCGATGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCCTGGGCAACAGGAAGACTCCAACTACCATATTAAAAAAAACATGAATGAAAGCAAAAACAAAACAACTAGCCAAACTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTAGGAGGCTGAGGCTGGTGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTAATAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCCATAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACAGGTTGCAGCAAGCCAAGACTGCATTACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTAAAAACAACAACAAAAACTAGCCAGTTGTGGTGGTATGTGCCTATAGTCCCAGCTACGTGGAAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGCAGTGGGAGGCTGCAGTGAGCTGTGATGGCACCACTGTCCTCCAGTCTGGGAAACAGAGCAAGACCCTGTCCCTAAAAGACAAAAAATAAGAAATGTCTGAAACTTATATTTTATTAACAACAAAGACAAACAAGCTAAACTCAAGGAAGAATGAATAACCCCTACCACGTGATTTTGGGAGCAATGACAGATTTTGTTAAAGAACCAAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTTCCTGGGCGTGGTGGTACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAAGTAGACTGTGTCTCAAAAAAAAAAAAAGAACCAAAAGCCAGACCCCAGCAGTGAGGATGTGACACCAAATCCCCAAAAGGGTCAAAGCTCTGGGTCACAGATAAAATCTTCCAGAGCAGTTGTTCTCAGACTGTCATTCCTGGCCATCATAATTTTCACCAAGGAGCTTAGAAATGCAAACTTTCTGGCTGGGCACAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAACCTGGTCAACAGGGTGAAACCCCATCTCTACCAAAAATACAAAAATTAGCCAGGCGTGGTGGGGAATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGGGGAGGTTGCAGTGAGCCGAGATCACGACACTGGCTCCAGCCTGGGTGACAGAGCAAGACTCTGTTTCAAAAAACAACAAAAATAAC
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TGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCAGCACCAGCATCACCTCAGAAGTCCTGAGAAATGTGATGTGAGGCCCCACTCCAGATGGCTGAATCAGAGACTCTGGGGGTGCTCCCCAGCAATTTGTATTTTTCTTAGTAAATTCTCCAGTGGCTAGGCCTGGTGGCTCATGCTTGTAATCCCAGCACTTTGAGAAGCTGAGGCAGGAGAAGCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGAGCAACATAGCGAGACCTTGTCTGTAAAATTAAAAAAATTAAATTAGCCAGTCGTGATGGCGTGTACCTGTGGTCCCAGCCACTTAGGAGACTGATGTGGGAGGATCCCTTGAGCCCAGGAGCTCAAGGATGCAGAGAGCCAGGATTGTGCCATTGCACTCCAACATGGGCGACCCTGTCTCAAAAAAGCCCAAAACAACAACAACAAATTAGCTAGGCACGGTGGTGTGCATGGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTGGAAGATCCCTTGAGTCCAGGCTGCAGAGGGCTATAATGGCCACTGCACTCCAGCCTGGACAACAGAGCAAGACCCTGTCTCCTAAAACAGAAAACAAATCCTCCAGGAACATCTGATGCATGCTGAAGATAAGGACTCTTTGAAAACATAAAGGCCAGTAAAACATACAGGCCAGTAAGTGTTCATAGCACATGTAAATATTATCGATAATTATGAGAAGATGGTTCAAGTTGAGAGTGAGACAGAGCCGAGTGGGTAAGAGAGTATCTGCCCAAGGCAGGGATGTCCTGGCAGAGGGGCAGGTCCTGGGCCTGGCAGCTTCAGATCCCAGGGTCCCCAGGGCTCACCACTCGCCCACCTGTGCCCCCAGATTCACCAAGAGAACATGGGACAGGCTCTCAGCCCCGACATGCTGGCCACTGACCTTGCCTATTACCTGGTCCGCAAAGGGGTAAGTGTGTAGCAGCCAGGGGGAGGGTGAGGAGATGGGGTGCCCCCCCCAGAGGGTGGGGGAGCTCAGGAATGGGTGCAAGCGGCCCAGCCTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGCGGGTCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTCTCTTTTGATGTAAAAATACAACAATTAGCTGGGTGTGGTGGCACACTCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACTGGGAGGTGGAGTTTGCGGTGAGGTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTTTGTGTCAAAAAGAAAAAAAAAAAAAAAAGGAAGGGGGTGCAGGCAATGGAGGCAGATCAGGGCATGGAGAAACCTGCCTCAGCGCCATCTTCCTCCCTGGCACCCAGATGCCATTCCGCCAGGCCCACGAGGCCTCCGGGAAAGCTGTGTTCATGGCCGAGACCAAGGGGGTCGCCCTCAACCAGCTGTCACTGCAGGAGCTGCAGACCATCAGGTACGGCCCATCCCCTTCCCCATGCTGCCTCCTAGGAAGTGAGCCTGGGTGCCTGGAGCCCAGGGTGGCCTGGCGCCCTGGCCCACCTCTTCCTCTCTCCCCAGCCCCCTGTTCTCGGGCGACGTGATCTGCGTGTGGGACTACGGGCACAGTGTGGAGCAGTATGGTGCCCTGGGCGGCACTGCGCGCTCCAGCGTCGACTGGCAGATCCGCCAGGTGTGGGCGCTACTGCAGGCACAGCAGGCCTAGGTCCTCCCACACCTGCCCCCTAATAAAGTGGGCGCGAGAGGAGGCTGCTGTGTGTTTCCTGCCCCAGCCTGGCTCCCTCGTTGCTGGGCTTTCGGGGCTGGCCAGTGGGGACAGTCAGGGACTGGAGAGGCAGGGCAGGGTGGCCTGTAATCCCAGCACTTTGGAAGGGCAAGGTGCGAGGATGCTTGAGGCCAGGAGTTTGACACAGCCTGGGCAACACAGGGAGACCCCCATCTCTACTCAATAATAAAACAAATAGCCTGGCGTGGTGGCCCATGCATATAGTCCCAGCTACTTGTAAGGCTGAGGTGAGAGGACACTTGTGCCCAGGAGTGGAGGCTGCAGTGAGCTATGATCACGCCACTGCATTCCAGCCTGGATAACAGAGTGAGAACCTATCTCTAAAAATAAATAAATAAACGAAAAATAAATGGAAGCGGAGAAAACTGGGCAAGGGCAATGAGAGTCGTAGACGGGAAGGGAAGAGGGGGCTCCCATCATAGCCTCTGCTCTGTCCAGGCCCCATCCCCTTCAGACAGGGTATCACAGTGACCTCCTAGGCCAGGAGCGATGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCCTGGGCAACAGGAAGACTCCAACTACCATATTAAAAAAAACATGAATGAAAGCAAAAACAAAACAACTAGCCAAACTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTAGGAGGCTGAGGCTGGTGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGGAACCCCATCTCTAATAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCCATAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACAGGTTGCAGCAAGCCAAGACTGCATTACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTAAAAACAACAACAAAAACTAGCCAGTTGTGGTGGTATGTGCCTATAGTCCCAGCTACGTGGAAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGCAGTGGGAGGCTGCAGTGAGCTGTGATGGCACCACTGTCCTCCAGTCTGGGAAACAGAGCAAGACCCTGTCCCTAAAAGACAAAAAATAAGAAATGTCTGAAACTTATATTTTATTAACAACAAAGACAAACAAGCTAAACTCAAGGAAGAATGAATAACCCCTACCACGTGATTTTGGGAGCAATGACAGATTTTGTTAAAGAACCAAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTTCCTGGGCGTGGTGGTACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAAGTAGACTGTGTCTCAAAAAAAAAAAAAGAACCAAAAGCCAGACCCCAGCAGTGAGGATGTGACACCAAATCCCCAAAAGGGTCAAAGCTCTGGGTCACAGATAAAATCTTCCAGAGCAGTTGTTCTCAGACTGTCATTCCTGGCCATCATAATTTTCACCAAGGAGCTTAGAAATGCAAACTTTCTGGCTGGGCACAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAACCTGGTCAACAGGGTGAAACCCCATCTCTACCAAAAATACAAAAATTAGCCAGGCGTGGTGGGGAATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGGGGAGGTTGCAGTGAGCCGAGATCACGACACTGGCTCCAGCCTGGGTGACAGAGCAAGACTCTGTTTCAAAAAACAACAAAAATAAC
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Task1_train_11239
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With a mutation on Chromosome 7 in gene KCTD7 (potassium channel tetramerization domain containing 7), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Progressive myoclonic epilepsy type 3
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TAATATTGAAAAGGATGCATGGCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAAGATCACTTGAGGTTAGGACTTTGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGCCATGCCCACCTGTAGTCCCAGCTACTTTGGAGGCTGGGGCAGCAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCAGTGAACCGAGATCGTGCCATTGCACTCCAGCCTGGGTGTTGCAATGAGATTCCGTCTCAAAAAAAAAAAAAAAAGATGCATAGGGATACAATTTGAATTGATCTGGAGGAAGTTTGTGGGAAGATTAAAGAGAACTTAAACTGACCTCATTTTTTCAAATGCAGTTTGGTAGAAACCACAAGCAGTGCAAAACAGGAAAAAAAAAAAAGCCTTGCATTTTAAGGGAAACCTCGAGCTTCTTAGGGCACATTTATACCATCATTTTCATGTTCCTCACTCAGCCCTTACCTCCAGAACCTTAGCTGGACCGGAAACCAGGCTCACTCTACAGATTAGGAGAGGAGTAGATGCCTGGAAGTATTCAACACACAACTACTGAGCTCTGCTGTGGGCAGCCCATGATTGGTGACCAAGATGCTTTCCCTGTCTTTGGGAAGCTTGGGGTCTAGTGGAGTGAATTGACAGAGGGAAATAATTGGCGATGTATCGTGCTAGGTGCTATTATAGAGGAGAATATGACACACGGTGAAGGCACAGTCGAAGAATGTGTCATTAACTCTGTCCTAGGGGCAGGTGAGGGACAGTAGACAGAAATGCTCACAGATGAGGGGAACTTGAATAGAAATTTCTAGAATGAGTAGATGCCACTAAACTGTATGGTGTGTTGGTGTGAATTAGAAAAAGGGCACATAGCAGGCCGGGCGTGGTGGCTCACGCCGGTAATCCCAGCACTTGGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCCAGTCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGAGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGAACTCCAGCCTGGGTGACACAGGCTGGGACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAAGGGCACATAGCAGATGACTCTCATCCAGGTGCTTTTATGCAGTGAACAACCTATAACACTGTATGGGTCCATTTAACTTGCCATATAGACAGAAGAAGGAGACTGGTAAGAGCATTTTGGGCAAAGAAGACAATGTGAGCAAGAGCACTAAGATAGTAAATTCAGGAAGTGAAAGGACACTGAAGGCTTGAGCTCTAGAGCAGCGATAATGGAGTTGAGGTGGAGAGACCTGATTTAAAAGCTATCAGGGGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACGCAGTGAAACCCCATCTCTACTAAAAAAATATATATATATATACAAAAAATTAGCCGGGTGTGGTGGAGGGCGCCTGTAGTCCCAGCTACTCCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAACATCACGCCACTGCACTCCAGCCTGGGAGATGAGTGAAACTCCATCTCAAAAAAAAAAGAGCTATGAGGGTTAGAATGGGTAGGACTTGGCAGATGATGAGGGTGGGGCAGAGGGAGGAGAGAGAAGAAAGTGTTCAGATGGACCCGTGGGCTTGAGTGACTGAATGAATGGTGTGGCACCAATCAGACCCCAGGGATTGAAGATGGAGCAGCCCCAGCTCTCATTCCCCGTTGCCTGCCTGAGAGCCCTGGTGATTTCTTTCCAGTTTCCTGAGGTTGTTCCCCTTAACATCGGAGGGGCTCACTTCACTACACGCCTGTCCACACTGCGGTGCTACGAAGACACCATGTTGGCAGCCATGTTCAGTGGGCGGCACTACATCCCCACGGACTCCGAGGGCCGGTACTTCATCGACCGAGATGGCACACACTTTGGGTATGTCTCTCCCTCTACAATCAACTTTGTAGTCCTAGCAGGTGATTAGCGTAGGCTTGAGTATGGGACCTTGATATCTTCCATAGTACCTAGAAGAGGAGATAGCATATTGATGAAATTTAATAAATGGGTTTATTGAAAGAGATCAATTTTTTTTTTTTTTTTTGCCAAAGGAGACAAAGACAGCCAGAGAAATTCGAAATAACACACTGGCTGGATGAAATTGCTTCAATCATAGACAATTAAACAATTTTTATTTTCAGCTCTGCGCGGTGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACTTGAGGCCAGGAGTTCCAGACCAGCTCATTACAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCTCATACCTGCAATCCCAGCTACTCAGGAAGCTGAGGTCGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGACCCGAGATCACGCCTCTGCGCTCCAGCCTGGGCGACACGAGATTCCATCTCAAAAAACAAAACAAAATTTCATTTTTATTTATTTATTATTTATTTATTTATCTCATTATACACCCACACACACAGATGTACACATACATGCACACATATATATATATGTATATATGGGTGTGTGTATACATATATATATATATATATATATATGTATATATATGAGCTCTGATGCACTGAGGCTTCCACTGGTCTTGATGTGTGTGATTCTATCTATCTATCTATCTATCTATCTATCTATCTATAAAAATAAAGATAGGATCTTGCTGTGTTGCCCAGACTGGTCTCAAGCTCCTGGCCTTAGGCAGTCCTCCCACCTTGGCCTCCTAAAATGCTGGTATTACAGTATTTATTTAAGTTTTAGGTGTTGTTTTTTTTTCGGGGGCTGTTTTTTTGGAGATAGGGTCTTGCTATGTTGCCCAGGGTGGAATGTAGTGGTTGTTCACCAGTGCCATCATAGCTCACTGCATCCTTAAACTCCTGGCTCAAGCAGTCTTCTCCCTTCAGCCTCCTGAATAGCTGAGACTACAGGTGTGCGCCACTGCACCTGGCTGTCCTATGCAATATGAGACCAGGAAGTTGTCATCTGTGTGGAGAGGAATAAGTGTAATCCCACATAGGGGGATAGTCTAAAACAACATGGAGAGTACCTTTAGACCTGGATTTTGGGGCTCAGCGTTGCCATGGGAAGGAGGCATGGTGTGTAGCAGTGGTTACCAGACTTCTTTCAGTAGTTTAAAGGAATAAAAAGAGATGGAAGACTGATACAGTGTTGTTCTTTAATTTTGCCAAGGAAAGTCTTTAAAAAAAAAAAAACCCTCTGTTGTTCTTGTCACTTAACACTAAAATGTGGAAAAACACAATGTCAACAACAGCAAAATAGCAGCCAGGCGTGGTGGTACTTGCCTGTAGTCACAGCTACTTGTGAGGCCGAGGTGGGAGGATTGGTTGAGCTCAGGAGTTGGAGTCTGCAGTGAGCCATGATCCTACCACTGTGCTCCAGCCAGGGCAACAGAGTGAGACTGTCTTTTTTTTTTTTTTTTTTTTGAGTCAGCGTCTTGCTCTGTTGCCCAAGCTGAGTGCAGTGATGCAAGCACAGCTCACTACAGCCTTGACCTCCCAGGTGCAAGCAATTTTGCTGCCTCAGTTTCCCAAGTAGCTGGGACTAGAGGTGCACACCACCACGCCTGGCTAATTTTTGATGTTTTTTAGAGATGAGGTTTCACTATGTTGGCCAGGATGTTCTCGAACACCTGGACTCAAGTGATCCTCCTGCCTCAGACTGCCAAAGTGCTGGGATTACAGGCCCAGCCTGTAGTTTGTGTCCGGCCCGGCCGAGACTCTGTGTCTTAAAAAAGAAAACAAAACCTTTCCCAAGAAAGGACTTCTGACAGTCTT
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TAATATTGAAAAGGATGCATGGCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAAGATCACTTGAGGTTAGGACTTTGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGCCATGCCCACCTGTAGTCCCAGCTACTTTGGAGGCTGGGGCAGCAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCAGTGAACCGAGATCGTGCCATTGCACTCCAGCCTGGGTGTTGCAATGAGATTCCGTCTCAAAAAAAAAAAAAAAAGATGCATAGGGATACAATTTGAATTGATCTGGAGGAAGTTTGTGGGAAGATTAAAGAGAACTTAAACTGACCTCATTTTTTCAAATGCAGTTTGGTAGAAACCACAAGCAGTGCAAAACAGGAAAAAAAAAAAAGCCTTGCATTTTAAGGGAAACCTCGAGCTTCTTAGGGCACATTTATACCATCATTTTCATGTTCCTCACTCAGCCCTTACCTCCAGAACCTTAGCTGGACCGGAAACCAGGCTCACTCTACAGATTAGGAGAGGAGTAGATGCCTGGAAGTATTCAACACACAACTACTGAGCTCTGCTGTGGGCAGCCCATGATTGGTGACCAAGATGCTTTCCCTGTCTTTGGGAAGCTTGGGGTCTAGTGGAGTGAATTGACAGAGGGAAATAATTGGCGATGTATCGTGCTAGGTGCTATTATAGAGGAGAATATGACACACGGTGAAGGCACAGTCGAAGAATGTGTCATTAACTCTGTCCTAGGGGCAGGTGAGGGACAGTAGACAGAAATGCTCACAGATGAGGGGAACTTGAATAGAAATTTCTAGAATGAGTAGATGCCACTAAACTGTATGGTGTGTTGGTGTGAATTAGAAAAAGGGCACATAGCAGGCCGGGCGTGGTGGCTCACGCCGGTAATCCCAGCACTTGGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCCAGTCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGAGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGAACTCCAGCCTGGGTGACACAGGCTGGGACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAAGGGCACATAGCAGATGACTCTCATCCAGGTGCTTTTATGCAGTGAACAACCTATAACACTGTATGGGTCCATTTAACTTGCCATATAGACAGAAGAAGGAGACTGGTAAGAGCATTTTGGGCAAAGAAGACAATGTGAGCAAGAGCACTAAGATAGTAAATTCAGGAAGTGAAAGGACACTGAAGGCTTGAGCTCTAGAGCAGCGATAATGGAGTTGAGGTGGAGAGACCTGATTTAAAAGCTATCAGGGGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACGCAGTGAAACCCCATCTCTACTAAAAAAATATATATATATATACAAAAAATTAGCCGGGTGTGGTGGAGGGCGCCTGTAGTCCCAGCTACTCCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAACATCACGCCACTGCACTCCAGCCTGGGAGATGAGTGAAACTCCATCTCAAAAAAAAAAGAGCTATGAGGGTTAGAATGGGTAGGACTTGGCAGATGATGAGGGTGGGGCAGAGGGAGGAGAGAGAAGAAAGTGTTCAGATGGACCCGTGGGCTTGAGTGACTGAATGAATGGTGTGGCACCAATCAGACCCCAGGGATTGAAGATGGAGCAGCCCCAGCTCTCATTCCCCGTTGCCTGCCTGAGAGCCCTGGTGATTTCTTTCCAGTTTCCTGAGGTTGTTCCCCTTAACATCGGAGGGGCTCACTTCACTACACGCCTGTCCACAGTGCGGTGCTACGAAGACACCATGTTGGCAGCCATGTTCAGTGGGCGGCACTACATCCCCACGGACTCCGAGGGCCGGTACTTCATCGACCGAGATGGCACACACTTTGGGTATGTCTCTCCCTCTACAATCAACTTTGTAGTCCTAGCAGGTGATTAGCGTAGGCTTGAGTATGGGACCTTGATATCTTCCATAGTACCTAGAAGAGGAGATAGCATATTGATGAAATTTAATAAATGGGTTTATTGAAAGAGATCAATTTTTTTTTTTTTTTTTGCCAAAGGAGACAAAGACAGCCAGAGAAATTCGAAATAACACACTGGCTGGATGAAATTGCTTCAATCATAGACAATTAAACAATTTTTATTTTCAGCTCTGCGCGGTGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACTTGAGGCCAGGAGTTCCAGACCAGCTCATTACAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCTCATACCTGCAATCCCAGCTACTCAGGAAGCTGAGGTCGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGACCCGAGATCACGCCTCTGCGCTCCAGCCTGGGCGACACGAGATTCCATCTCAAAAAACAAAACAAAATTTCATTTTTATTTATTTATTATTTATTTATTTATCTCATTATACACCCACACACACAGATGTACACATACATGCACACATATATATATATGTATATATGGGTGTGTGTATACATATATATATATATATATATATATGTATATATATGAGCTCTGATGCACTGAGGCTTCCACTGGTCTTGATGTGTGTGATTCTATCTATCTATCTATCTATCTATCTATCTATCTATAAAAATAAAGATAGGATCTTGCTGTGTTGCCCAGACTGGTCTCAAGCTCCTGGCCTTAGGCAGTCCTCCCACCTTGGCCTCCTAAAATGCTGGTATTACAGTATTTATTTAAGTTTTAGGTGTTGTTTTTTTTTCGGGGGCTGTTTTTTTGGAGATAGGGTCTTGCTATGTTGCCCAGGGTGGAATGTAGTGGTTGTTCACCAGTGCCATCATAGCTCACTGCATCCTTAAACTCCTGGCTCAAGCAGTCTTCTCCCTTCAGCCTCCTGAATAGCTGAGACTACAGGTGTGCGCCACTGCACCTGGCTGTCCTATGCAATATGAGACCAGGAAGTTGTCATCTGTGTGGAGAGGAATAAGTGTAATCCCACATAGGGGGATAGTCTAAAACAACATGGAGAGTACCTTTAGACCTGGATTTTGGGGCTCAGCGTTGCCATGGGAAGGAGGCATGGTGTGTAGCAGTGGTTACCAGACTTCTTTCAGTAGTTTAAAGGAATAAAAAGAGATGGAAGACTGATACAGTGTTGTTCTTTAATTTTGCCAAGGAAAGTCTTTAAAAAAAAAAAAACCCTCTGTTGTTCTTGTCACTTAACACTAAAATGTGGAAAAACACAATGTCAACAACAGCAAAATAGCAGCCAGGCGTGGTGGTACTTGCCTGTAGTCACAGCTACTTGTGAGGCCGAGGTGGGAGGATTGGTTGAGCTCAGGAGTTGGAGTCTGCAGTGAGCCATGATCCTACCACTGTGCTCCAGCCAGGGCAACAGAGTGAGACTGTCTTTTTTTTTTTTTTTTTTTTGAGTCAGCGTCTTGCTCTGTTGCCCAAGCTGAGTGCAGTGATGCAAGCACAGCTCACTACAGCCTTGACCTCCCAGGTGCAAGCAATTTTGCTGCCTCAGTTTCCCAAGTAGCTGGGACTAGAGGTGCACACCACCACGCCTGGCTAATTTTTGATGTTTTTTAGAGATGAGGTTTCACTATGTTGGCCAGGATGTTCTCGAACACCTGGACTCAAGTGATCCTCCTGCCTCAGACTGCCAAAGTGCTGGGATTACAGGCCCAGCCTGTAGTTTGTGTCCGGCCCGGCCGAGACTCTGTGTCTTAAAAAAGAAAACAAAACCTTTCCCAAGAAAGGACTTCTGACAGTCTT
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Task1_train_11240
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Chromosome 7 houses a mutation in gene KCTD7 (potassium channel tetramerization domain containing 7). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Progressive myoclonic epilepsy type 3
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GGCCTCAGTCTGGGGTCGTTCCCCATTGTCATCAGCTTGCTGCACTCTGGTCTAAATGTTTCTGCTGAAGCTGGACCATGGTAGATGTGGGTGTAGAATCAGCCATGGCTGGATCTGAGCCTCTGGCAGCGGTGGCTACTTGAGCAAGCATGTTCCTGAACCTGTCTGGGCCCCACTTGAGCCTCATTTATGACATAGAGATAAGATAGCACACACCCCCAATGTCATTGAGAGGATTACATGGGATAACCCATGAATAGTGGCTGGCATGGAGTAATACTTAGCGAGTGTTAGCTGGTGTTGTATTAGGTCATAGACTAAGCTGTTATTGAGGTAGCAGCATTATCTTGGGGTTTACTCACTGTCTTCCGCACGTACGGGTGATGTATCTGATTACTCTGAGCACTAAATAATCTAAAAAGCTGGTGGCTTGCACCTATGGTCCCAGTTATTCGGGAGGCTGAGGCAAGAGGACTGCTTGAGCCCAGGAGTTAGAGGCTGCAGTGAGCTATGATTGCACCACTGCCCTCCAGCCTGGGTGACAGAACAAGATCCTATCTCTTAAAAAAGAAGAAAAAAAATCTGAAAAGTGAATTAGAAGGACTGAATTTTTATTTTAAGAAAATGCAATATGTGATTTTATTCAGCCCTGAAACCAGTTTGTTCAGACATTAGAGTTAGGCATTTTACCTGCTCTGCATAGCTACAGAATAATACTAGTGGCAAGGATGGGGAACACCTAGAACTCTTCTGCATTGCTGTTGGGAATGTAAAATGCTGCAACCACTTTGTTAACCACGTGCTTACCCTATGACTGAATGACTCTACTGCTAATACTTAAAAGAAATTTGTGCTTGTGTCCACTAAAGGTTTCTTTTGTTTGTTTGTTTTTGTGATGGAGTCTCACACTGTCACCCAGACTGGAGTGCAGTGGCGTGATCTTAGCTCACTGCAACCTCCACTTCCCAGGTTGAAGCAGTTCCCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGACACCCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTTTTGGCCAGGCTGGTCTTAAACTCCTGAGCTCAGATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATCACACGTGTGAGCCACCGTGCCTGGCCTAAAGGTCTTATATAGGAATGTTCATCCCAGCTTTACTCATAATAGCCAAAAACTGGAAACAACCCAAATGTCCATCAACAAGACAACAGGGTAAATAAATTACACCATATTCATGCAAGGGTATACTTACATAATGAATAATAACTAATAAAAACAAAAAAACAAACTACTGGTTTGTTTTTATTATTTATTTGGTGGATACATTTCAAAAACATTATGTTAAAGGAAAGAAGCCAGGTATGAAAGAGAACATACTATATAATTCTGTTTATATATATATTTCAAGAAAAGGCAAAACTCATCTTTACTGATGGAAGGAGAAGTTAGAGTGGTTGCTTCCGTAGGGATTAACTGGGAAGTGGCATGAGGAACCTTAAGGAATGGAAATGTTTCATCTTGATCTAGGTGATGGTTGGATGGGTATATTCATACTTAAAAAAACAACTGAACTGTACAGTTAATATTTGTACATTTATTGAATATTTCACCTCAATTCTAAAACTATATATATATAAAGGGCTAGGTGTCATATCTTTCCATTATACTTACATATACCTAATAATACCTAATATTATACCTAATAATAGTAATTATAGTTGCTTACTGATAACAACAACTAATAACACTTATTGAGGCCCTACTCTGTGCCAGGGATTTTCTAATCACTTAATTCCCTAACACATTATGAGGTTTTATTGTTTTCTCCAATTTTACAGACAGGGAAACTGAGACATGGAGTAGTTAAGTTCATTTACCCAGTGTAACACAGCTGGCAGTCTGGTTTTAGATTTTGTCCAATGCACACTGTGTGGCACTGCCCAGGAGCATAAGCTCCTTGTCACCGACCCTCTTTCCTTCCTGCTTAGAGATGTGCTGAATTTCCTGCGCTCAGGGGACCTCCCACCCAGGGAGCGTGTTCGAGCTGTGTACAAAGAGGCCCAGTACTATGCCATCGGGCCCCTCCTGGAGCAGCTGGAGAACATGCAGCCACTGAAGGGCGAGAAGGTGCGCCAAGCGTTTCTGGGACTCATGCCCTATTACAAAGGTGAGGGTCAGCTGCCCAGGATGGTGGGTATGTGGGAGGAGGTCTGCAAGGCATCTGTGAGTGTTTAGGTCTCCATCAGAACACCGGGGGCAGCATTCATCCAGATTACTCAAGATGCGATGGAGTGTCATCCCTTCCCAGTCACGCTGGGGAGATTCAGGTTAAGGTGGGCCTACCTGGCCTATGACAGTTAGCAAATTGTATTTCAGAAGGACAGCCCTCGTCCCATTGGCTTCCCTTTGCTGTGGAGAACCGTGACCCTTGTTTAAGTTTGTGCCCTTCATTGGCCCCCTGAGTCCCTTCCCCGGGAAATCTGTCTTTCCCCTCCTGCATCCTGCCATCTTCAGGACTGTTTCTCTGTGCATCTCTGCTGCCCTGTCCTGCCTCTTCACCCTAGTGATAGGTGTTGTGTTCATCCTTATAGACCACTTGGAGCGGATTGTGGAGATCGCCCGGCTGCGTGCGGTCCAGCGGAAGGCCCGCTTTGCCAAGCTCAAGGTCTGTGTCTTCAAGGAGGAGATGCCCATCACCCCCTATGAGTGTCCGCTCCTCAACTCCCTGCGATTTGAGCGGAGTGAGAGTGACGGGCAGCTTTTTGAGCACCACTGTGAAGTGGATGTGTCTTTTGGGCCCTGGGAGGCTGTGGCTGATGTTTATGACCTGCTGCACTGCCTGGTCACGGACCTCTCGGCCCAGGGTCTCACCGTGGACCACCAGTGCATCGGGGTGTGTGACAAGCACCTCGTGAACCACTACTACTGCAAGCGCCCCATCTATGAGTTCAAGATCACATGGTGGTGAGTAGCCCCGGTAGGCGAGAGTCCCATCAGGGAGGATGTCCACCTTGCTTGGTGGCTCTGGGAGTAAGATCCCTGAAGGGGCTGCTGACTGCCCCAGAATCTGCCGAGGTGAGAACAGCATCCTGAGGCACAGCTCCCAGGGGACAGAGGTGTAGCTCCAATCTCCCTGACTGCACCTCAGGGTTGGGCTCAGGGCTTGCGGCCTGCAGGCACTCCAGCCAGCGCTCACCTGGCCTTTCCTCAAGGCATGGTAGTCTTTCCTTGAGGCTGATAGCTAGGGCTTGACCAGGAAGTCCCGAGAAGTTTTGTCACCTTCTTGACCTTGCAAGAGAGTTTCTGCCCATTTTAGAGCCACGTTACCAAATCGATGTAGGCCTAATCACTTCCTCAACCCTGTTCAAGCGTCCCTCCCTTGTGCTCAGTATATTGGTGTGAACACGGAACATGATGGGGGATTTACCTGACCAGCCACCCCATAGCCCCTGGCTGAAGAAGAAAGAGCATCTTCTCTCCCACTGCACCCCTTCTCCTCCAAGAATAGTTGCCCACATTCCCAAAATGTGGAAAGACTTTTCTTTTCCTTCCGGAACATGTTCTTCACCACCTTTTGGAGATTTAACCATAGCTGCCAAAGCTATGCACCCAGTTGGCCTTAGAAAACCACAATGTTTACAGCCCTGTCTTAGGGCCGCGGCTTCTCTTATCTTCCACCACCTTCCTTGCTTGCAGGGTTATCTTCTCACAGGGCTGGAATGCAAATTTCAGAGGCTTCTTTTGAAGATTCCCCAAGTCAAGCAGGCAAGATGCCTAGATCTTCTGTTATCTTTGACATGTAACATCCTTTTTAGAGGCTCAGAACACCTCCTTGGCTGCTATCTCATGTGTTAGAATCCAGTTTGTGGTGAACCTCTTTGGAAGGGGACCCCCTCTCTTTAAACCCTGTTCCTCTGTCCTGGTAACATTCTCCTTCTAGGAGAGCCTCTCTTCTGAGAAGGTAAAGGAAGGGCTGGGTGAGACACACAGCTATCCTAGGAGCCGTAGGAAGACAAAACTTCCCTTTTGTTTTACTCCTCACT
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GGCCTCAGTCTGGGGTCGTTCCCCATTGTCATCAGCTTGCTGCACTCTGGTCTAAATGTTTCTGCTGAAGCTGGACCATGGTAGATGTGGGTGTAGAATCAGCCATGGCTGGATCTGAGCCTCTGGCAGCGGTGGCTACTTGAGCAAGCATGTTCCTGAACCTGTCTGGGCCCCACTTGAGCCTCATTTATGACATAGAGATAAGATAGCACACACCCCCAATGTCATTGAGAGGATTACATGGGATAACCCATGAATAGTGGCTGGCATGGAGTAATACTTAGCGAGTGTTAGCTGGTGTTGTATTAGGTCATAGACTAAGCTGTTATTGAGGTAGCAGCATTATCTTGGGGTTTACTCACTGTCTTCCGCACGTACGGGTGATGTATCTGATTACTCTGAGCACTAAATAATCTAAAAAGCTGGTGGCTTGCACCTATGGTCCCAGTTATTCGGGAGGCTGAGGCAAGAGGACTGCTTGAGCCCAGGAGTTAGAGGCTGCAGTGAGCTATGATTGCACCACTGCCCTCCAGCCTGGGTGACAGAACAAGATCCTATCTCTTAAAAAAGAAGAAAAAAAATCTGAAAAGTGAATTAGAAGGACTGAATTTTTATTTTAAGAAAATGCAATATGTGATTTTATTCAGCCCTGAAACCAGTTTGTTCAGACATTAGAGTTAGGCATTTTACCTGCTCTGCATAGCTACAGAATAATACTAGTGGCAAGGATGGGGAACACCTAGAACTCTTCTGCATTGCTGTTGGGAATGTAAAATGCTGCAACCACTTTGTTAACCACGTGCTTACCCTATGACTGAATGACTCTACTGCTAATACTTAAAAGAAATTTGTGCTTGTGTCCACTAAAGGTTTCTTTTGTTTGTTTGTTTTTGTGATGGAGTCTCACACTGTCACCCAGACTGGAGTGCAGTGGCGTGATCTTAGCTCACTGCAACCTCCACTTCCCAGGTTGAAGCAGTTCCCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGACACCCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTTTTGGCCAGGCTGGTCTTAAACTCCTGAGCTCAGATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATCACACGTGTGAGCCACCGTGCCTGGCCTAAAGGTCTTATATAGGAATGTTCATCCCAGCTTTACTCATAATAGCCAAAAACTGGAAACAACCCAAATGTCCATCAACAAGACAACAGGGTAAATAAATTACACCATATTCATGCAAGGGTATACTTACATAATGAATAATAACTAATAAAAACAAAAAAACAAACTACTGGTTTGTTTTTATTATTTATTTGGTGGATACATTTCAAAAACATTATGTTAAAGGAAAGAAGCCAGGTATGAAAGAGAACATACTATATAATTCTGTTTATATATATATTTCAAGAAAAGGCAAAACTCATCTTTACTGATGGAAGGAGAAGTTAGAGTGGTTGCTTCCGTAGGGATTAACTGGGAAGTGGCATGAGGAACCTTAAGGAATGGAAATGTTTCATCTTGATCTAGGTGATGGTTGGATGGGTATATTCATACTTAAAAAAACAACTGAACTGTACAGTTAATATTTGTACATTTATTGAATATTTCACCTCAATTCTAAAACTATATATATATAAAGGGCTAGGTGTCATATCTTTCCATTATACTTACATATACCTAATAATACCTAATATTATACCTAATAATAGTAATTATAGTTGCTTACTGATAACAACAACTAATAACACTTATTGAGGCCCTACTCTGTGCCAGGGATTTTCTAATCACTTAATTCCCTAACACATTATGAGGTTTTATTGTTTTCTCCAATTTTACAGACAGGGAAACTGAGACATGGAGTAGTTAAGTTCATTTACCCAGTGTAACACAGCTGGCAGTCTGGTTTTAGATTTTGTCCAATGCACACTGTGTGGCACTGCCCAGGAGCATAAGCTCCTTGTCACCGACCCTCTTTCCTTCCTGCTTAGAGATGTGATGAATTTCCTGCGCTCAGGGGACCTCCCACCCAGGGAGCGTGTTCGAGCTGTGTACAAAGAGGCCCAGTACTATGCCATCGGGCCCCTCCTGGAGCAGCTGGAGAACATGCAGCCACTGAAGGGCGAGAAGGTGCGCCAAGCGTTTCTGGGACTCATGCCCTATTACAAAGGTGAGGGTCAGCTGCCCAGGATGGTGGGTATGTGGGAGGAGGTCTGCAAGGCATCTGTGAGTGTTTAGGTCTCCATCAGAACACCGGGGGCAGCATTCATCCAGATTACTCAAGATGCGATGGAGTGTCATCCCTTCCCAGTCACGCTGGGGAGATTCAGGTTAAGGTGGGCCTACCTGGCCTATGACAGTTAGCAAATTGTATTTCAGAAGGACAGCCCTCGTCCCATTGGCTTCCCTTTGCTGTGGAGAACCGTGACCCTTGTTTAAGTTTGTGCCCTTCATTGGCCCCCTGAGTCCCTTCCCCGGGAAATCTGTCTTTCCCCTCCTGCATCCTGCCATCTTCAGGACTGTTTCTCTGTGCATCTCTGCTGCCCTGTCCTGCCTCTTCACCCTAGTGATAGGTGTTGTGTTCATCCTTATAGACCACTTGGAGCGGATTGTGGAGATCGCCCGGCTGCGTGCGGTCCAGCGGAAGGCCCGCTTTGCCAAGCTCAAGGTCTGTGTCTTCAAGGAGGAGATGCCCATCACCCCCTATGAGTGTCCGCTCCTCAACTCCCTGCGATTTGAGCGGAGTGAGAGTGACGGGCAGCTTTTTGAGCACCACTGTGAAGTGGATGTGTCTTTTGGGCCCTGGGAGGCTGTGGCTGATGTTTATGACCTGCTGCACTGCCTGGTCACGGACCTCTCGGCCCAGGGTCTCACCGTGGACCACCAGTGCATCGGGGTGTGTGACAAGCACCTCGTGAACCACTACTACTGCAAGCGCCCCATCTATGAGTTCAAGATCACATGGTGGTGAGTAGCCCCGGTAGGCGAGAGTCCCATCAGGGAGGATGTCCACCTTGCTTGGTGGCTCTGGGAGTAAGATCCCTGAAGGGGCTGCTGACTGCCCCAGAATCTGCCGAGGTGAGAACAGCATCCTGAGGCACAGCTCCCAGGGGACAGAGGTGTAGCTCCAATCTCCCTGACTGCACCTCAGGGTTGGGCTCAGGGCTTGCGGCCTGCAGGCACTCCAGCCAGCGCTCACCTGGCCTTTCCTCAAGGCATGGTAGTCTTTCCTTGAGGCTGATAGCTAGGGCTTGACCAGGAAGTCCCGAGAAGTTTTGTCACCTTCTTGACCTTGCAAGAGAGTTTCTGCCCATTTTAGAGCCACGTTACCAAATCGATGTAGGCCTAATCACTTCCTCAACCCTGTTCAAGCGTCCCTCCCTTGTGCTCAGTATATTGGTGTGAACACGGAACATGATGGGGGATTTACCTGACCAGCCACCCCATAGCCCCTGGCTGAAGAAGAAAGAGCATCTTCTCTCCCACTGCACCCCTTCTCCTCCAAGAATAGTTGCCCACATTCCCAAAATGTGGAAAGACTTTTCTTTTCCTTCCGGAACATGTTCTTCACCACCTTTTGGAGATTTAACCATAGCTGCCAAAGCTATGCACCCAGTTGGCCTTAGAAAACCACAATGTTTACAGCCCTGTCTTAGGGCCGCGGCTTCTCTTATCTTCCACCACCTTCCTTGCTTGCAGGGTTATCTTCTCACAGGGCTGGAATGCAAATTTCAGAGGCTTCTTTTGAAGATTCCCCAAGTCAAGCAGGCAAGATGCCTAGATCTTCTGTTATCTTTGACATGTAACATCCTTTTTAGAGGCTCAGAACACCTCCTTGGCTGCTATCTCATGTGTTAGAATCCAGTTTGTGGTGAACCTCTTTGGAAGGGGACCCCCTCTCTTTAAACCCTGTTCCTCTGTCCTGGTAACATTCTCCTTCTAGGAGAGCCTCTCTTCTGAGAAGGTAAAGGAAGGGCTGGGTGAGACACACAGCTATCCTAGGAGCCGTAGGAAGACAAAACTTCCCTTTTGTTTTACTCCTCACT
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Task1_train_11241
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Assess the clinical impact of this variant on gene KCTD7 (potassium channel tetramerization domain containing 7), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Progressive myoclonic epilepsy type 3
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CCCATTGTCATCAGCTTGCTGCACTCTGGTCTAAATGTTTCTGCTGAAGCTGGACCATGGTAGATGTGGGTGTAGAATCAGCCATGGCTGGATCTGAGCCTCTGGCAGCGGTGGCTACTTGAGCAAGCATGTTCCTGAACCTGTCTGGGCCCCACTTGAGCCTCATTTATGACATAGAGATAAGATAGCACACACCCCCAATGTCATTGAGAGGATTACATGGGATAACCCATGAATAGTGGCTGGCATGGAGTAATACTTAGCGAGTGTTAGCTGGTGTTGTATTAGGTCATAGACTAAGCTGTTATTGAGGTAGCAGCATTATCTTGGGGTTTACTCACTGTCTTCCGCACGTACGGGTGATGTATCTGATTACTCTGAGCACTAAATAATCTAAAAAGCTGGTGGCTTGCACCTATGGTCCCAGTTATTCGGGAGGCTGAGGCAAGAGGACTGCTTGAGCCCAGGAGTTAGAGGCTGCAGTGAGCTATGATTGCACCACTGCCCTCCAGCCTGGGTGACAGAACAAGATCCTATCTCTTAAAAAAGAAGAAAAAAAATCTGAAAAGTGAATTAGAAGGACTGAATTTTTATTTTAAGAAAATGCAATATGTGATTTTATTCAGCCCTGAAACCAGTTTGTTCAGACATTAGAGTTAGGCATTTTACCTGCTCTGCATAGCTACAGAATAATACTAGTGGCAAGGATGGGGAACACCTAGAACTCTTCTGCATTGCTGTTGGGAATGTAAAATGCTGCAACCACTTTGTTAACCACGTGCTTACCCTATGACTGAATGACTCTACTGCTAATACTTAAAAGAAATTTGTGCTTGTGTCCACTAAAGGTTTCTTTTGTTTGTTTGTTTTTGTGATGGAGTCTCACACTGTCACCCAGACTGGAGTGCAGTGGCGTGATCTTAGCTCACTGCAACCTCCACTTCCCAGGTTGAAGCAGTTCCCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGACACCCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTTTTGGCCAGGCTGGTCTTAAACTCCTGAGCTCAGATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATCACACGTGTGAGCCACCGTGCCTGGCCTAAAGGTCTTATATAGGAATGTTCATCCCAGCTTTACTCATAATAGCCAAAAACTGGAAACAACCCAAATGTCCATCAACAAGACAACAGGGTAAATAAATTACACCATATTCATGCAAGGGTATACTTACATAATGAATAATAACTAATAAAAACAAAAAAACAAACTACTGGTTTGTTTTTATTATTTATTTGGTGGATACATTTCAAAAACATTATGTTAAAGGAAAGAAGCCAGGTATGAAAGAGAACATACTATATAATTCTGTTTATATATATATTTCAAGAAAAGGCAAAACTCATCTTTACTGATGGAAGGAGAAGTTAGAGTGGTTGCTTCCGTAGGGATTAACTGGGAAGTGGCATGAGGAACCTTAAGGAATGGAAATGTTTCATCTTGATCTAGGTGATGGTTGGATGGGTATATTCATACTTAAAAAAACAACTGAACTGTACAGTTAATATTTGTACATTTATTGAATATTTCACCTCAATTCTAAAACTATATATATATAAAGGGCTAGGTGTCATATCTTTCCATTATACTTACATATACCTAATAATACCTAATATTATACCTAATAATAGTAATTATAGTTGCTTACTGATAACAACAACTAATAACACTTATTGAGGCCCTACTCTGTGCCAGGGATTTTCTAATCACTTAATTCCCTAACACATTATGAGGTTTTATTGTTTTCTCCAATTTTACAGACAGGGAAACTGAGACATGGAGTAGTTAAGTTCATTTACCCAGTGTAACACAGCTGGCAGTCTGGTTTTAGATTTTGTCCAATGCACACTGTGTGGCACTGCCCAGGAGCATAAGCTCCTTGTCACCGACCCTCTTTCCTTCCTGCTTAGAGATGTGCTGAATTTCCTGCGCTCAGGGGACCTCCCACCCAGGGAGCGTGTTCGAGCTGTGTACAAAGAGGCCCAGTACTATGCCATCGGGCCCCTCCTGGAGCAGCTGGAGAACATGCAGCCACTGAAGGGCGAGAAGGTGCGCCAAGCGTTTCTGGGACTCATGCCCTATTACAAAGGTGAGGGTCAGCTGCCCAGGATGGTGGGTATGTGGGAGGAGGTCTGCAAGGCATCTGTGAGTGTTTAGGTCTCCATCAGAACACCGGGGGCAGCATTCATCCAGATTACTCAAGATGCGATGGAGTGTCATCCCTTCCCAGTCACGCTGGGGAGATTCAGGTTAAGGTGGGCCTACCTGGCCTATGACAGTTAGCAAATTGTATTTCAGAAGGACAGCCCTCGTCCCATTGGCTTCCCTTTGCTGTGGAGAACCGTGACCCTTGTTTAAGTTTGTGCCCTTCATTGGCCCCCTGAGTCCCTTCCCCGGGAAATCTGTCTTTCCCCTCCTGCATCCTGCCATCTTCAGGACTGTTTCTCTGTGCATCTCTGCTGCCCTGTCCTGCCTCTTCACCCTAGTGATAGGTGTTGTGTTCATCCTTATAGACCACTTGGAGCGGATTGTGGAGATCGCCCGGCTGCGTGCGGTCCAGCGGAAGGCCCGCTTTGCCAAGCTCAAGGTCTGTGTCTTCAAGGAGGAGATGCCCATCACCCCCTATGAGTGTCCGCTCCTCAACTCCCTGCGATTTGAGCGGAGTGAGAGTGACGGGCAGCTTTTTGAGCACCACTGTGAAGTGGATGTGTCTTTTGGGCCCTGGGAGGCTGTGGCTGATGTTTATGACCTGCTGCACTGCCTGGTCACGGACCTCTCGGCCCAGGGTCTCACCGTGGACCACCAGTGCATCGGGGTGTGTGACAAGCACCTCGTGAACCACTACTACTGCAAGCGCCCCATCTATGAGTTCAAGATCACATGGTGGTGAGTAGCCCCGGTAGGCGAGAGTCCCATCAGGGAGGATGTCCACCTTGCTTGGTGGCTCTGGGAGTAAGATCCCTGAAGGGGCTGCTGACTGCCCCAGAATCTGCCGAGGTGAGAACAGCATCCTGAGGCACAGCTCCCAGGGGACAGAGGTGTAGCTCCAATCTCCCTGACTGCACCTCAGGGTTGGGCTCAGGGCTTGCGGCCTGCAGGCACTCCAGCCAGCGCTCACCTGGCCTTTCCTCAAGGCATGGTAGTCTTTCCTTGAGGCTGATAGCTAGGGCTTGACCAGGAAGTCCCGAGAAGTTTTGTCACCTTCTTGACCTTGCAAGAGAGTTTCTGCCCATTTTAGAGCCACGTTACCAAATCGATGTAGGCCTAATCACTTCCTCAACCCTGTTCAAGCGTCCCTCCCTTGTGCTCAGTATATTGGTGTGAACACGGAACATGATGGGGGATTTACCTGACCAGCCACCCCATAGCCCCTGGCTGAAGAAGAAAGAGCATCTTCTCTCCCACTGCACCCCTTCTCCTCCAAGAATAGTTGCCCACATTCCCAAAATGTGGAAAGACTTTTCTTTTCCTTCCGGAACATGTTCTTCACCACCTTTTGGAGATTTAACCATAGCTGCCAAAGCTATGCACCCAGTTGGCCTTAGAAAACCACAATGTTTACAGCCCTGTCTTAGGGCCGCGGCTTCTCTTATCTTCCACCACCTTCCTTGCTTGCAGGGTTATCTTCTCACAGGGCTGGAATGCAAATTTCAGAGGCTTCTTTTGAAGATTCCCCAAGTCAAGCAGGCAAGATGCCTAGATCTTCTGTTATCTTTGACATGTAACATCCTTTTTAGAGGCTCAGAACACCTCCTTGGCTGCTATCTCATGTGTTAGAATCCAGTTTGTGGTGAACCTCTTTGGAAGGGGACCCCCTCTCTTTAAACCCTGTTCCTCTGTCCTGGTAACATTCTCCTTCTAGGAGAGCCTCTCTTCTGAGAAGGTAAAGGAAGGGCTGGGTGAGACACACAGCTATCCTAGGAGCCGTAGGAAGACAAAACTTCCCTTTTGTTTTACTCCTCACTCCTCTATTTTTGTTTTACTCA
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CCCATTGTCATCAGCTTGCTGCACTCTGGTCTAAATGTTTCTGCTGAAGCTGGACCATGGTAGATGTGGGTGTAGAATCAGCCATGGCTGGATCTGAGCCTCTGGCAGCGGTGGCTACTTGAGCAAGCATGTTCCTGAACCTGTCTGGGCCCCACTTGAGCCTCATTTATGACATAGAGATAAGATAGCACACACCCCCAATGTCATTGAGAGGATTACATGGGATAACCCATGAATAGTGGCTGGCATGGAGTAATACTTAGCGAGTGTTAGCTGGTGTTGTATTAGGTCATAGACTAAGCTGTTATTGAGGTAGCAGCATTATCTTGGGGTTTACTCACTGTCTTCCGCACGTACGGGTGATGTATCTGATTACTCTGAGCACTAAATAATCTAAAAAGCTGGTGGCTTGCACCTATGGTCCCAGTTATTCGGGAGGCTGAGGCAAGAGGACTGCTTGAGCCCAGGAGTTAGAGGCTGCAGTGAGCTATGATTGCACCACTGCCCTCCAGCCTGGGTGACAGAACAAGATCCTATCTCTTAAAAAAGAAGAAAAAAAATCTGAAAAGTGAATTAGAAGGACTGAATTTTTATTTTAAGAAAATGCAATATGTGATTTTATTCAGCCCTGAAACCAGTTTGTTCAGACATTAGAGTTAGGCATTTTACCTGCTCTGCATAGCTACAGAATAATACTAGTGGCAAGGATGGGGAACACCTAGAACTCTTCTGCATTGCTGTTGGGAATGTAAAATGCTGCAACCACTTTGTTAACCACGTGCTTACCCTATGACTGAATGACTCTACTGCTAATACTTAAAAGAAATTTGTGCTTGTGTCCACTAAAGGTTTCTTTTGTTTGTTTGTTTTTGTGATGGAGTCTCACACTGTCACCCAGACTGGAGTGCAGTGGCGTGATCTTAGCTCACTGCAACCTCCACTTCCCAGGTTGAAGCAGTTCCCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGACACCCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTTTTGGCCAGGCTGGTCTTAAACTCCTGAGCTCAGATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATCACACGTGTGAGCCACCGTGCCTGGCCTAAAGGTCTTATATAGGAATGTTCATCCCAGCTTTACTCATAATAGCCAAAAACTGGAAACAACCCAAATGTCCATCAACAAGACAACAGGGTAAATAAATTACACCATATTCATGCAAGGGTATACTTACATAATGAATAATAACTAATAAAAACAAAAAAACAAACTACTGGTTTGTTTTTATTATTTATTTGGTGGATACATTTCAAAAACATTATGTTAAAGGAAAGAAGCCAGGTATGAAAGAGAACATACTATATAATTCTGTTTATATATATATTTCAAGAAAAGGCAAAACTCATCTTTACTGATGGAAGGAGAAGTTAGAGTGGTTGCTTCCGTAGGGATTAACTGGGAAGTGGCATGAGGAACCTTAAGGAATGGAAATGTTTCATCTTGATCTAGGTGATGGTTGGATGGGTATATTCATACTTAAAAAAACAACTGAACTGTACAGTTAATATTTGTACATTTATTGAATATTTCACCTCAATTCTAAAACTATATATATATAAAGGGCTAGGTGTCATATCTTTCCATTATACTTACATATACCTAATAATACCTAATATTATACCTAATAATAGTAATTATAGTTGCTTACTGATAACAACAACTAATAACACTTATTGAGGCCCTACTCTGTGCCAGGGATTTTCTAATCACTTAATTCCCTAACACATTATGAGGTTTTATTGTTTTCTCCAATTTTACAGACAGGGAAACTGAGACATGGAGTAGTTAAGTTCATTTACCCAGTGTAACACAGCTGGCAGTCTGGTTTTAGATTTTGTCCAATGCACACTGTGTGGCACTGCCCAGGAGCATAAGCTCCTTGTCACCGACCCTCTTTCCTTCCTGCTTAGAGATGTGCTGAATTTCCTGCGCTCAGGGTACCTCCCACCCAGGGAGCGTGTTCGAGCTGTGTACAAAGAGGCCCAGTACTATGCCATCGGGCCCCTCCTGGAGCAGCTGGAGAACATGCAGCCACTGAAGGGCGAGAAGGTGCGCCAAGCGTTTCTGGGACTCATGCCCTATTACAAAGGTGAGGGTCAGCTGCCCAGGATGGTGGGTATGTGGGAGGAGGTCTGCAAGGCATCTGTGAGTGTTTAGGTCTCCATCAGAACACCGGGGGCAGCATTCATCCAGATTACTCAAGATGCGATGGAGTGTCATCCCTTCCCAGTCACGCTGGGGAGATTCAGGTTAAGGTGGGCCTACCTGGCCTATGACAGTTAGCAAATTGTATTTCAGAAGGACAGCCCTCGTCCCATTGGCTTCCCTTTGCTGTGGAGAACCGTGACCCTTGTTTAAGTTTGTGCCCTTCATTGGCCCCCTGAGTCCCTTCCCCGGGAAATCTGTCTTTCCCCTCCTGCATCCTGCCATCTTCAGGACTGTTTCTCTGTGCATCTCTGCTGCCCTGTCCTGCCTCTTCACCCTAGTGATAGGTGTTGTGTTCATCCTTATAGACCACTTGGAGCGGATTGTGGAGATCGCCCGGCTGCGTGCGGTCCAGCGGAAGGCCCGCTTTGCCAAGCTCAAGGTCTGTGTCTTCAAGGAGGAGATGCCCATCACCCCCTATGAGTGTCCGCTCCTCAACTCCCTGCGATTTGAGCGGAGTGAGAGTGACGGGCAGCTTTTTGAGCACCACTGTGAAGTGGATGTGTCTTTTGGGCCCTGGGAGGCTGTGGCTGATGTTTATGACCTGCTGCACTGCCTGGTCACGGACCTCTCGGCCCAGGGTCTCACCGTGGACCACCAGTGCATCGGGGTGTGTGACAAGCACCTCGTGAACCACTACTACTGCAAGCGCCCCATCTATGAGTTCAAGATCACATGGTGGTGAGTAGCCCCGGTAGGCGAGAGTCCCATCAGGGAGGATGTCCACCTTGCTTGGTGGCTCTGGGAGTAAGATCCCTGAAGGGGCTGCTGACTGCCCCAGAATCTGCCGAGGTGAGAACAGCATCCTGAGGCACAGCTCCCAGGGGACAGAGGTGTAGCTCCAATCTCCCTGACTGCACCTCAGGGTTGGGCTCAGGGCTTGCGGCCTGCAGGCACTCCAGCCAGCGCTCACCTGGCCTTTCCTCAAGGCATGGTAGTCTTTCCTTGAGGCTGATAGCTAGGGCTTGACCAGGAAGTCCCGAGAAGTTTTGTCACCTTCTTGACCTTGCAAGAGAGTTTCTGCCCATTTTAGAGCCACGTTACCAAATCGATGTAGGCCTAATCACTTCCTCAACCCTGTTCAAGCGTCCCTCCCTTGTGCTCAGTATATTGGTGTGAACACGGAACATGATGGGGGATTTACCTGACCAGCCACCCCATAGCCCCTGGCTGAAGAAGAAAGAGCATCTTCTCTCCCACTGCACCCCTTCTCCTCCAAGAATAGTTGCCCACATTCCCAAAATGTGGAAAGACTTTTCTTTTCCTTCCGGAACATGTTCTTCACCACCTTTTGGAGATTTAACCATAGCTGCCAAAGCTATGCACCCAGTTGGCCTTAGAAAACCACAATGTTTACAGCCCTGTCTTAGGGCCGCGGCTTCTCTTATCTTCCACCACCTTCCTTGCTTGCAGGGTTATCTTCTCACAGGGCTGGAATGCAAATTTCAGAGGCTTCTTTTGAAGATTCCCCAAGTCAAGCAGGCAAGATGCCTAGATCTTCTGTTATCTTTGACATGTAACATCCTTTTTAGAGGCTCAGAACACCTCCTTGGCTGCTATCTCATGTGTTAGAATCCAGTTTGTGGTGAACCTCTTTGGAAGGGGACCCCCTCTCTTTAAACCCTGTTCCTCTGTCCTGGTAACATTCTCCTTCTAGGAGAGCCTCTCTTCTGAGAAGGTAAAGGAAGGGCTGGGTGAGACACACAGCTATCCTAGGAGCCGTAGGAAGACAAAACTTCCCTTTTGTTTTACTCCTCACTCCTCTATTTTTGTTTTACTCA
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Task1_train_11242
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This gene mutation involves KCTD7 (potassium channel tetramerization domain containing 7) on Chromosome 7. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Progressive myoclonic epilepsy type 3
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CTGGAGTGCAGTGGCGTGATCTTAGCTCACTGCAACCTCCACTTCCCAGGTTGAAGCAGTTCCCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGACACCCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTTTTGGCCAGGCTGGTCTTAAACTCCTGAGCTCAGATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATCACACGTGTGAGCCACCGTGCCTGGCCTAAAGGTCTTATATAGGAATGTTCATCCCAGCTTTACTCATAATAGCCAAAAACTGGAAACAACCCAAATGTCCATCAACAAGACAACAGGGTAAATAAATTACACCATATTCATGCAAGGGTATACTTACATAATGAATAATAACTAATAAAAACAAAAAAACAAACTACTGGTTTGTTTTTATTATTTATTTGGTGGATACATTTCAAAAACATTATGTTAAAGGAAAGAAGCCAGGTATGAAAGAGAACATACTATATAATTCTGTTTATATATATATTTCAAGAAAAGGCAAAACTCATCTTTACTGATGGAAGGAGAAGTTAGAGTGGTTGCTTCCGTAGGGATTAACTGGGAAGTGGCATGAGGAACCTTAAGGAATGGAAATGTTTCATCTTGATCTAGGTGATGGTTGGATGGGTATATTCATACTTAAAAAAACAACTGAACTGTACAGTTAATATTTGTACATTTATTGAATATTTCACCTCAATTCTAAAACTATATATATATAAAGGGCTAGGTGTCATATCTTTCCATTATACTTACATATACCTAATAATACCTAATATTATACCTAATAATAGTAATTATAGTTGCTTACTGATAACAACAACTAATAACACTTATTGAGGCCCTACTCTGTGCCAGGGATTTTCTAATCACTTAATTCCCTAACACATTATGAGGTTTTATTGTTTTCTCCAATTTTACAGACAGGGAAACTGAGACATGGAGTAGTTAAGTTCATTTACCCAGTGTAACACAGCTGGCAGTCTGGTTTTAGATTTTGTCCAATGCACACTGTGTGGCACTGCCCAGGAGCATAAGCTCCTTGTCACCGACCCTCTTTCCTTCCTGCTTAGAGATGTGCTGAATTTCCTGCGCTCAGGGGACCTCCCACCCAGGGAGCGTGTTCGAGCTGTGTACAAAGAGGCCCAGTACTATGCCATCGGGCCCCTCCTGGAGCAGCTGGAGAACATGCAGCCACTGAAGGGCGAGAAGGTGCGCCAAGCGTTTCTGGGACTCATGCCCTATTACAAAGGTGAGGGTCAGCTGCCCAGGATGGTGGGTATGTGGGAGGAGGTCTGCAAGGCATCTGTGAGTGTTTAGGTCTCCATCAGAACACCGGGGGCAGCATTCATCCAGATTACTCAAGATGCGATGGAGTGTCATCCCTTCCCAGTCACGCTGGGGAGATTCAGGTTAAGGTGGGCCTACCTGGCCTATGACAGTTAGCAAATTGTATTTCAGAAGGACAGCCCTCGTCCCATTGGCTTCCCTTTGCTGTGGAGAACCGTGACCCTTGTTTAAGTTTGTGCCCTTCATTGGCCCCCTGAGTCCCTTCCCCGGGAAATCTGTCTTTCCCCTCCTGCATCCTGCCATCTTCAGGACTGTTTCTCTGTGCATCTCTGCTGCCCTGTCCTGCCTCTTCACCCTAGTGATAGGTGTTGTGTTCATCCTTATAGACCACTTGGAGCGGATTGTGGAGATCGCCCGGCTGCGTGCGGTCCAGCGGAAGGCCCGCTTTGCCAAGCTCAAGGTCTGTGTCTTCAAGGAGGAGATGCCCATCACCCCCTATGAGTGTCCGCTCCTCAACTCCCTGCGATTTGAGCGGAGTGAGAGTGACGGGCAGCTTTTTGAGCACCACTGTGAAGTGGATGTGTCTTTTGGGCCCTGGGAGGCTGTGGCTGATGTTTATGACCTGCTGCACTGCCTGGTCACGGACCTCTCGGCCCAGGGTCTCACCGTGGACCACCAGTGCATCGGGGTGTGTGACAAGCACCTCGTGAACCACTACTACTGCAAGCGCCCCATCTATGAGTTCAAGATCACATGGTGGTGAGTAGCCCCGGTAGGCGAGAGTCCCATCAGGGAGGATGTCCACCTTGCTTGGTGGCTCTGGGAGTAAGATCCCTGAAGGGGCTGCTGACTGCCCCAGAATCTGCCGAGGTGAGAACAGCATCCTGAGGCACAGCTCCCAGGGGACAGAGGTGTAGCTCCAATCTCCCTGACTGCACCTCAGGGTTGGGCTCAGGGCTTGCGGCCTGCAGGCACTCCAGCCAGCGCTCACCTGGCCTTTCCTCAAGGCATGGTAGTCTTTCCTTGAGGCTGATAGCTAGGGCTTGACCAGGAAGTCCCGAGAAGTTTTGTCACCTTCTTGACCTTGCAAGAGAGTTTCTGCCCATTTTAGAGCCACGTTACCAAATCGATGTAGGCCTAATCACTTCCTCAACCCTGTTCAAGCGTCCCTCCCTTGTGCTCAGTATATTGGTGTGAACACGGAACATGATGGGGGATTTACCTGACCAGCCACCCCATAGCCCCTGGCTGAAGAAGAAAGAGCATCTTCTCTCCCACTGCACCCCTTCTCCTCCAAGAATAGTTGCCCACATTCCCAAAATGTGGAAAGACTTTTCTTTTCCTTCCGGAACATGTTCTTCACCACCTTTTGGAGATTTAACCATAGCTGCCAAAGCTATGCACCCAGTTGGCCTTAGAAAACCACAATGTTTACAGCCCTGTCTTAGGGCCGCGGCTTCTCTTATCTTCCACCACCTTCCTTGCTTGCAGGGTTATCTTCTCACAGGGCTGGAATGCAAATTTCAGAGGCTTCTTTTGAAGATTCCCCAAGTCAAGCAGGCAAGATGCCTAGATCTTCTGTTATCTTTGACATGTAACATCCTTTTTAGAGGCTCAGAACACCTCCTTGGCTGCTATCTCATGTGTTAGAATCCAGTTTGTGGTGAACCTCTTTGGAAGGGGACCCCCTCTCTTTAAACCCTGTTCCTCTGTCCTGGTAACATTCTCCTTCTAGGAGAGCCTCTCTTCTGAGAAGGTAAAGGAAGGGCTGGGTGAGACACACAGCTATCCTAGGAGCCGTAGGAAGACAAAACTTCCCTTTTGTTTTACTCCTCACTCCTCTATTTTTGTTTTACTCACTTCTTTATATTTTGTTTTACTCCTCACTCCTGTATATTTTGGTTTACTTACTCCTCTATTTCAGAAATTGAAAAAGATCCCCAAGGATCTGTTACTACTGCATTTCCTTCTTGCTCTGTCTACAGCCTAGGCCAACTAGTCAGGGTCTGGACATGCATCTCCTAAAGGAAGAACTGTGTAGCACCATTGATCACAATGTAACATTTCCATGCTGCATTAAGGGTGTCTCTCTCTAATCATGATTGTACCTGTCTCTTCCTGGGTAAAGGGAGATTTTTTTTTTTAATGTGTAAAGAATTGATGCGAGCCAGGAACATGTCTGTAGTCCCAGCTACTTGGGCACACGCCTGTAGTCCAGGCCACTCGAGCACACACCTGTAGTACCAGCTACTCTGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGATTAAGACTGTAGTATACTATGATCGTGCCTGTGGCTAGCCACTGTGCTCCAGCCTGGGCAACACCATCGTAAAAATAAATAAATAAATAAATAAATTGGGGAGGACAGCCTCACTGGTATCAGACTTACAGGACCAGATAGACAAGATGGGTATAAGGGGAGCTGAAGTCTGTGTTCATATGAGGAAGAGAAGACCAAGCCCTGGGACTTTGGCTGAATTCCTCCGTGGGGCTGGACGGCAGTGATCTCCTGTTCCCTATGTGTAAACAAAGATTCCAGGGCGTGGTTTTGCACTCCTGTTGTACTCTTTTAGAGGTGGAAAAGAGGTGGATACTGAGATCTAAGAGGAAAGGATAGTCATTCACGTTCTGAGATATGCGCTCTCTCTATTGTTCTCGTACACAAAGGGATAGTCTCTTTTCTGGAGCTGATGTCCCTGCTTGGAGGTTAGCCCCAAAACATGGCTC
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CTGGAGTGCAGTGGCGTGATCTTAGCTCACTGCAACCTCCACTTCCCAGGTTGAAGCAGTTCCCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGACACCCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTTTTGGCCAGGCTGGTCTTAAACTCCTGAGCTCAGATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATCACACGTGTGAGCCACCGTGCCTGGCCTAAAGGTCTTATATAGGAATGTTCATCCCAGCTTTACTCATAATAGCCAAAAACTGGAAACAACCCAAATGTCCATCAACAAGACAACAGGGTAAATAAATTACACCATATTCATGCAAGGGTATACTTACATAATGAATAATAACTAATAAAAACAAAAAAACAAACTACTGGTTTGTTTTTATTATTTATTTGGTGGATACATTTCAAAAACATTATGTTAAAGGAAAGAAGCCAGGTATGAAAGAGAACATACTATATAATTCTGTTTATATATATATTTCAAGAAAAGGCAAAACTCATCTTTACTGATGGAAGGAGAAGTTAGAGTGGTTGCTTCCGTAGGGATTAACTGGGAAGTGGCATGAGGAACCTTAAGGAATGGAAATGTTTCATCTTGATCTAGGTGATGGTTGGATGGGTATATTCATACTTAAAAAAACAACTGAACTGTACAGTTAATATTTGTACATTTATTGAATATTTCACCTCAATTCTAAAACTATATATATATAAAGGGCTAGGTGTCATATCTTTCCATTATACTTACATATACCTAATAATACCTAATATTATACCTAATAATAGTAATTATAGTTGCTTACTGATAACAACAACTAATAACACTTATTGAGGCCCTACTCTGTGCCAGGGATTTTCTAATCACTTAATTCCCTAACACATTATGAGGTTTTATTGTTTTCTCCAATTTTACAGACAGGGAAACTGAGACATGGAGTAGTTAAGTTCATTTACCCAGTGTAACACAGCTGGCAGTCTGGTTTTAGATTTTGTCCAATGCACACTGTGTGGCACTGCCCAGGAGCATAAGCTCCTTGTCACCGACCCTCTTTCCTTCCTGCTTAGAGATGTGCTGAATTTCCTGCGCTCAGGGGACCTCCCACCCAGGGAGCGTGTTCGAGCTGTGTACAAAGAGGCCCAGTACTATGCCATCGGGCCCCTCCTGGAGCAGCTGGAGAACATGCAGCCACTGAAGGGCGAGAAGGTGCGCCAAGCGTTTCTGGGACTCATGCCCTATTACAAAGGTGAGGGTCAGCTGCCCAGGATGGTGGGTATGTGGGAGGAGGTCTGCAAGGCATCTGTGAGTGTTTAGGTCTCCATCAGAACACCGGGGGCAGCATTCATCCAGATTACTCAAGATGCGATGGAGTGTCATCCCTTCCCAGTCACGCTGGGGAGATTCAGGTTAAGGTGGGCCTACCTGGCCTATGACAGTTAGCAAATTGTATTTCAGAAGGACAGCCCTCGTCCCATTGGCTTCCCTTTGCTGTGGAGAACCGTGACCCTTGTTTAAGTTTGTGCCCTTCATTGGCCCCCTGAGTCCCTTCCCCGGGAAATCTGTCTTTCCCCTCCTGCATCCTGCCATCTTCAGGACTGTTTCTCTGTGCATCTCTGCTGCCCTGTCCTGCCTCTTCACCCTAGTGATAGGTGTTGTGTTCATCCTTATAGACCACTTGGAGCGGATTGTGGAGATCGCCCGGCTGCGTGCGGTCCAGCGGAAGGCCCGCTTTGCCAAGCTCAAGGTCTGTGTCTTCAAGGAGGAGATGCCCATCACCCCCTATGAGTGTCCGCTCCTCAACTCCCTGCGATTTGAGCGGAGTGAGAGTGACGGGCAGCTTTTTGAGCACCACTGTGAAGTGGATGTGTCTTTTGGGCCCTGGGAGGCTGTGGCTGATGTTTATGACCTGCTGCACTGCCTGGTCACGGACCTCTCGGCCCAGGGTCTCACCGTGGACCACCAGTGCATCGGGGTGTGTGACAAGCACCTCGTGATCCACTACTACTGCAAGCGCCCCATCTATGAGTTCAAGATCACATGGTGGTGAGTAGCCCCGGTAGGCGAGAGTCCCATCAGGGAGGATGTCCACCTTGCTTGGTGGCTCTGGGAGTAAGATCCCTGAAGGGGCTGCTGACTGCCCCAGAATCTGCCGAGGTGAGAACAGCATCCTGAGGCACAGCTCCCAGGGGACAGAGGTGTAGCTCCAATCTCCCTGACTGCACCTCAGGGTTGGGCTCAGGGCTTGCGGCCTGCAGGCACTCCAGCCAGCGCTCACCTGGCCTTTCCTCAAGGCATGGTAGTCTTTCCTTGAGGCTGATAGCTAGGGCTTGACCAGGAAGTCCCGAGAAGTTTTGTCACCTTCTTGACCTTGCAAGAGAGTTTCTGCCCATTTTAGAGCCACGTTACCAAATCGATGTAGGCCTAATCACTTCCTCAACCCTGTTCAAGCGTCCCTCCCTTGTGCTCAGTATATTGGTGTGAACACGGAACATGATGGGGGATTTACCTGACCAGCCACCCCATAGCCCCTGGCTGAAGAAGAAAGAGCATCTTCTCTCCCACTGCACCCCTTCTCCTCCAAGAATAGTTGCCCACATTCCCAAAATGTGGAAAGACTTTTCTTTTCCTTCCGGAACATGTTCTTCACCACCTTTTGGAGATTTAACCATAGCTGCCAAAGCTATGCACCCAGTTGGCCTTAGAAAACCACAATGTTTACAGCCCTGTCTTAGGGCCGCGGCTTCTCTTATCTTCCACCACCTTCCTTGCTTGCAGGGTTATCTTCTCACAGGGCTGGAATGCAAATTTCAGAGGCTTCTTTTGAAGATTCCCCAAGTCAAGCAGGCAAGATGCCTAGATCTTCTGTTATCTTTGACATGTAACATCCTTTTTAGAGGCTCAGAACACCTCCTTGGCTGCTATCTCATGTGTTAGAATCCAGTTTGTGGTGAACCTCTTTGGAAGGGGACCCCCTCTCTTTAAACCCTGTTCCTCTGTCCTGGTAACATTCTCCTTCTAGGAGAGCCTCTCTTCTGAGAAGGTAAAGGAAGGGCTGGGTGAGACACACAGCTATCCTAGGAGCCGTAGGAAGACAAAACTTCCCTTTTGTTTTACTCCTCACTCCTCTATTTTTGTTTTACTCACTTCTTTATATTTTGTTTTACTCCTCACTCCTGTATATTTTGGTTTACTTACTCCTCTATTTCAGAAATTGAAAAAGATCCCCAAGGATCTGTTACTACTGCATTTCCTTCTTGCTCTGTCTACAGCCTAGGCCAACTAGTCAGGGTCTGGACATGCATCTCCTAAAGGAAGAACTGTGTAGCACCATTGATCACAATGTAACATTTCCATGCTGCATTAAGGGTGTCTCTCTCTAATCATGATTGTACCTGTCTCTTCCTGGGTAAAGGGAGATTTTTTTTTTTAATGTGTAAAGAATTGATGCGAGCCAGGAACATGTCTGTAGTCCCAGCTACTTGGGCACACGCCTGTAGTCCAGGCCACTCGAGCACACACCTGTAGTACCAGCTACTCTGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGATTAAGACTGTAGTATACTATGATCGTGCCTGTGGCTAGCCACTGTGCTCCAGCCTGGGCAACACCATCGTAAAAATAAATAAATAAATAAATAAATTGGGGAGGACAGCCTCACTGGTATCAGACTTACAGGACCAGATAGACAAGATGGGTATAAGGGGAGCTGAAGTCTGTGTTCATATGAGGAAGAGAAGACCAAGCCCTGGGACTTTGGCTGAATTCCTCCGTGGGGCTGGACGGCAGTGATCTCCTGTTCCCTATGTGTAAACAAAGATTCCAGGGCGTGGTTTTGCACTCCTGTTGTACTCTTTTAGAGGTGGAAAAGAGGTGGATACTGAGATCTAAGAGGAAAGGATAGTCATTCACGTTCTGAGATATGCGCTCTCTCTATTGTTCTCGTACACAAAGGGATAGTCTCTTTTCTGGAGCTGATGTCCCTGCTTGGAGGTTAGCCCCAAAACATGGCTC
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Task1_train_11243
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An alteration has been detected in KCTD7 (potassium channel tetramerization domain containing 7) on Chromosome 7. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Progressive myoclonic epilepsy type 3
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AGTGGCGTGATCTTAGCTCACTGCAACCTCCACTTCCCAGGTTGAAGCAGTTCCCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGACACCCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTTTTGGCCAGGCTGGTCTTAAACTCCTGAGCTCAGATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATCACACGTGTGAGCCACCGTGCCTGGCCTAAAGGTCTTATATAGGAATGTTCATCCCAGCTTTACTCATAATAGCCAAAAACTGGAAACAACCCAAATGTCCATCAACAAGACAACAGGGTAAATAAATTACACCATATTCATGCAAGGGTATACTTACATAATGAATAATAACTAATAAAAACAAAAAAACAAACTACTGGTTTGTTTTTATTATTTATTTGGTGGATACATTTCAAAAACATTATGTTAAAGGAAAGAAGCCAGGTATGAAAGAGAACATACTATATAATTCTGTTTATATATATATTTCAAGAAAAGGCAAAACTCATCTTTACTGATGGAAGGAGAAGTTAGAGTGGTTGCTTCCGTAGGGATTAACTGGGAAGTGGCATGAGGAACCTTAAGGAATGGAAATGTTTCATCTTGATCTAGGTGATGGTTGGATGGGTATATTCATACTTAAAAAAACAACTGAACTGTACAGTTAATATTTGTACATTTATTGAATATTTCACCTCAATTCTAAAACTATATATATATAAAGGGCTAGGTGTCATATCTTTCCATTATACTTACATATACCTAATAATACCTAATATTATACCTAATAATAGTAATTATAGTTGCTTACTGATAACAACAACTAATAACACTTATTGAGGCCCTACTCTGTGCCAGGGATTTTCTAATCACTTAATTCCCTAACACATTATGAGGTTTTATTGTTTTCTCCAATTTTACAGACAGGGAAACTGAGACATGGAGTAGTTAAGTTCATTTACCCAGTGTAACACAGCTGGCAGTCTGGTTTTAGATTTTGTCCAATGCACACTGTGTGGCACTGCCCAGGAGCATAAGCTCCTTGTCACCGACCCTCTTTCCTTCCTGCTTAGAGATGTGCTGAATTTCCTGCGCTCAGGGGACCTCCCACCCAGGGAGCGTGTTCGAGCTGTGTACAAAGAGGCCCAGTACTATGCCATCGGGCCCCTCCTGGAGCAGCTGGAGAACATGCAGCCACTGAAGGGCGAGAAGGTGCGCCAAGCGTTTCTGGGACTCATGCCCTATTACAAAGGTGAGGGTCAGCTGCCCAGGATGGTGGGTATGTGGGAGGAGGTCTGCAAGGCATCTGTGAGTGTTTAGGTCTCCATCAGAACACCGGGGGCAGCATTCATCCAGATTACTCAAGATGCGATGGAGTGTCATCCCTTCCCAGTCACGCTGGGGAGATTCAGGTTAAGGTGGGCCTACCTGGCCTATGACAGTTAGCAAATTGTATTTCAGAAGGACAGCCCTCGTCCCATTGGCTTCCCTTTGCTGTGGAGAACCGTGACCCTTGTTTAAGTTTGTGCCCTTCATTGGCCCCCTGAGTCCCTTCCCCGGGAAATCTGTCTTTCCCCTCCTGCATCCTGCCATCTTCAGGACTGTTTCTCTGTGCATCTCTGCTGCCCTGTCCTGCCTCTTCACCCTAGTGATAGGTGTTGTGTTCATCCTTATAGACCACTTGGAGCGGATTGTGGAGATCGCCCGGCTGCGTGCGGTCCAGCGGAAGGCCCGCTTTGCCAAGCTCAAGGTCTGTGTCTTCAAGGAGGAGATGCCCATCACCCCCTATGAGTGTCCGCTCCTCAACTCCCTGCGATTTGAGCGGAGTGAGAGTGACGGGCAGCTTTTTGAGCACCACTGTGAAGTGGATGTGTCTTTTGGGCCCTGGGAGGCTGTGGCTGATGTTTATGACCTGCTGCACTGCCTGGTCACGGACCTCTCGGCCCAGGGTCTCACCGTGGACCACCAGTGCATCGGGGTGTGTGACAAGCACCTCGTGAACCACTACTACTGCAAGCGCCCCATCTATGAGTTCAAGATCACATGGTGGTGAGTAGCCCCGGTAGGCGAGAGTCCCATCAGGGAGGATGTCCACCTTGCTTGGTGGCTCTGGGAGTAAGATCCCTGAAGGGGCTGCTGACTGCCCCAGAATCTGCCGAGGTGAGAACAGCATCCTGAGGCACAGCTCCCAGGGGACAGAGGTGTAGCTCCAATCTCCCTGACTGCACCTCAGGGTTGGGCTCAGGGCTTGCGGCCTGCAGGCACTCCAGCCAGCGCTCACCTGGCCTTTCCTCAAGGCATGGTAGTCTTTCCTTGAGGCTGATAGCTAGGGCTTGACCAGGAAGTCCCGAGAAGTTTTGTCACCTTCTTGACCTTGCAAGAGAGTTTCTGCCCATTTTAGAGCCACGTTACCAAATCGATGTAGGCCTAATCACTTCCTCAACCCTGTTCAAGCGTCCCTCCCTTGTGCTCAGTATATTGGTGTGAACACGGAACATGATGGGGGATTTACCTGACCAGCCACCCCATAGCCCCTGGCTGAAGAAGAAAGAGCATCTTCTCTCCCACTGCACCCCTTCTCCTCCAAGAATAGTTGCCCACATTCCCAAAATGTGGAAAGACTTTTCTTTTCCTTCCGGAACATGTTCTTCACCACCTTTTGGAGATTTAACCATAGCTGCCAAAGCTATGCACCCAGTTGGCCTTAGAAAACCACAATGTTTACAGCCCTGTCTTAGGGCCGCGGCTTCTCTTATCTTCCACCACCTTCCTTGCTTGCAGGGTTATCTTCTCACAGGGCTGGAATGCAAATTTCAGAGGCTTCTTTTGAAGATTCCCCAAGTCAAGCAGGCAAGATGCCTAGATCTTCTGTTATCTTTGACATGTAACATCCTTTTTAGAGGCTCAGAACACCTCCTTGGCTGCTATCTCATGTGTTAGAATCCAGTTTGTGGTGAACCTCTTTGGAAGGGGACCCCCTCTCTTTAAACCCTGTTCCTCTGTCCTGGTAACATTCTCCTTCTAGGAGAGCCTCTCTTCTGAGAAGGTAAAGGAAGGGCTGGGTGAGACACACAGCTATCCTAGGAGCCGTAGGAAGACAAAACTTCCCTTTTGTTTTACTCCTCACTCCTCTATTTTTGTTTTACTCACTTCTTTATATTTTGTTTTACTCCTCACTCCTGTATATTTTGGTTTACTTACTCCTCTATTTCAGAAATTGAAAAAGATCCCCAAGGATCTGTTACTACTGCATTTCCTTCTTGCTCTGTCTACAGCCTAGGCCAACTAGTCAGGGTCTGGACATGCATCTCCTAAAGGAAGAACTGTGTAGCACCATTGATCACAATGTAACATTTCCATGCTGCATTAAGGGTGTCTCTCTCTAATCATGATTGTACCTGTCTCTTCCTGGGTAAAGGGAGATTTTTTTTTTTAATGTGTAAAGAATTGATGCGAGCCAGGAACATGTCTGTAGTCCCAGCTACTTGGGCACACGCCTGTAGTCCAGGCCACTCGAGCACACACCTGTAGTACCAGCTACTCTGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGATTAAGACTGTAGTATACTATGATCGTGCCTGTGGCTAGCCACTGTGCTCCAGCCTGGGCAACACCATCGTAAAAATAAATAAATAAATAAATAAATTGGGGAGGACAGCCTCACTGGTATCAGACTTACAGGACCAGATAGACAAGATGGGTATAAGGGGAGCTGAAGTCTGTGTTCATATGAGGAAGAGAAGACCAAGCCCTGGGACTTTGGCTGAATTCCTCCGTGGGGCTGGACGGCAGTGATCTCCTGTTCCCTATGTGTAAACAAAGATTCCAGGGCGTGGTTTTGCACTCCTGTTGTACTCTTTTAGAGGTGGAAAAGAGGTGGATACTGAGATCTAAGAGGAAAGGATAGTCATTCACGTTCTGAGATATGCGCTCTCTCTATTGTTCTCGTACACAAAGGGATAGTCTCTTTTCTGGAGCTGATGTCCCTGCTTGGAGGTTAGCCCCAAAACATGGCTCTTGTATTGT
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AGTGGCGTGATCTTAGCTCACTGCAACCTCCACTTCCCAGGTTGAAGCAGTTCCCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGACACCCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTTTTGGCCAGGCTGGTCTTAAACTCCTGAGCTCAGATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATCACACGTGTGAGCCACCGTGCCTGGCCTAAAGGTCTTATATAGGAATGTTCATCCCAGCTTTACTCATAATAGCCAAAAACTGGAAACAACCCAAATGTCCATCAACAAGACAACAGGGTAAATAAATTACACCATATTCATGCAAGGGTATACTTACATAATGAATAATAACTAATAAAAACAAAAAAACAAACTACTGGTTTGTTTTTATTATTTATTTGGTGGATACATTTCAAAAACATTATGTTAAAGGAAAGAAGCCAGGTATGAAAGAGAACATACTATATAATTCTGTTTATATATATATTTCAAGAAAAGGCAAAACTCATCTTTACTGATGGAAGGAGAAGTTAGAGTGGTTGCTTCCGTAGGGATTAACTGGGAAGTGGCATGAGGAACCTTAAGGAATGGAAATGTTTCATCTTGATCTAGGTGATGGTTGGATGGGTATATTCATACTTAAAAAAACAACTGAACTGTACAGTTAATATTTGTACATTTATTGAATATTTCACCTCAATTCTAAAACTATATATATATAAAGGGCTAGGTGTCATATCTTTCCATTATACTTACATATACCTAATAATACCTAATATTATACCTAATAATAGTAATTATAGTTGCTTACTGATAACAACAACTAATAACACTTATTGAGGCCCTACTCTGTGCCAGGGATTTTCTAATCACTTAATTCCCTAACACATTATGAGGTTTTATTGTTTTCTCCAATTTTACAGACAGGGAAACTGAGACATGGAGTAGTTAAGTTCATTTACCCAGTGTAACACAGCTGGCAGTCTGGTTTTAGATTTTGTCCAATGCACACTGTGTGGCACTGCCCAGGAGCATAAGCTCCTTGTCACCGACCCTCTTTCCTTCCTGCTTAGAGATGTGCTGAATTTCCTGCGCTCAGGGGACCTCCCACCCAGGGAGCGTGTTCGAGCTGTGTACAAAGAGGCCCAGTACTATGCCATCGGGCCCCTCCTGGAGCAGCTGGAGAACATGCAGCCACTGAAGGGCGAGAAGGTGCGCCAAGCGTTTCTGGGACTCATGCCCTATTACAAAGGTGAGGGTCAGCTGCCCAGGATGGTGGGTATGTGGGAGGAGGTCTGCAAGGCATCTGTGAGTGTTTAGGTCTCCATCAGAACACCGGGGGCAGCATTCATCCAGATTACTCAAGATGCGATGGAGTGTCATCCCTTCCCAGTCACGCTGGGGAGATTCAGGTTAAGGTGGGCCTACCTGGCCTATGACAGTTAGCAAATTGTATTTCAGAAGGACAGCCCTCGTCCCATTGGCTTCCCTTTGCTGTGGAGAACCGTGACCCTTGTTTAAGTTTGTGCCCTTCATTGGCCCCCTGAGTCCCTTCCCCGGGAAATCTGTCTTTCCCCTCCTGCATCCTGCCATCTTCAGGACTGTTTCTCTGTGCATCTCTGCTGCCCTGTCCTGCCTCTTCACCCTAGTGATAGGTGTTGTGTTCATCCTTATAGACCACTTGGAGCGGATTGTGGAGATCGCCCGGCTGCGTGCGGTCCAGCGGAAGGCCCGCTTTGCCAAGCTCAAGGTCTGTGTCTTCAAGGAGGAGATGCCCATCACCCCCTATGAGTGTCCGCTCCTCAACTCCCTGCGATTTGAGCGGAGTGAGAGTGACGGGCAGCTTTTTGAGCACCACTGTGAAGTGGATGTGTCTTTTGGGCCCTGGGAGGCTGTGGCTGATGTTTATGACCTGCTGCACTGCCTGGTCACGGACCTCTCGGCCCAGGGTCTCACCGTGGACCACCAGTGCATCGGGGTGTGTGACAAGCACCTCGTGAACCACTACTGCTGCAAGCGCCCCATCTATGAGTTCAAGATCACATGGTGGTGAGTAGCCCCGGTAGGCGAGAGTCCCATCAGGGAGGATGTCCACCTTGCTTGGTGGCTCTGGGAGTAAGATCCCTGAAGGGGCTGCTGACTGCCCCAGAATCTGCCGAGGTGAGAACAGCATCCTGAGGCACAGCTCCCAGGGGACAGAGGTGTAGCTCCAATCTCCCTGACTGCACCTCAGGGTTGGGCTCAGGGCTTGCGGCCTGCAGGCACTCCAGCCAGCGCTCACCTGGCCTTTCCTCAAGGCATGGTAGTCTTTCCTTGAGGCTGATAGCTAGGGCTTGACCAGGAAGTCCCGAGAAGTTTTGTCACCTTCTTGACCTTGCAAGAGAGTTTCTGCCCATTTTAGAGCCACGTTACCAAATCGATGTAGGCCTAATCACTTCCTCAACCCTGTTCAAGCGTCCCTCCCTTGTGCTCAGTATATTGGTGTGAACACGGAACATGATGGGGGATTTACCTGACCAGCCACCCCATAGCCCCTGGCTGAAGAAGAAAGAGCATCTTCTCTCCCACTGCACCCCTTCTCCTCCAAGAATAGTTGCCCACATTCCCAAAATGTGGAAAGACTTTTCTTTTCCTTCCGGAACATGTTCTTCACCACCTTTTGGAGATTTAACCATAGCTGCCAAAGCTATGCACCCAGTTGGCCTTAGAAAACCACAATGTTTACAGCCCTGTCTTAGGGCCGCGGCTTCTCTTATCTTCCACCACCTTCCTTGCTTGCAGGGTTATCTTCTCACAGGGCTGGAATGCAAATTTCAGAGGCTTCTTTTGAAGATTCCCCAAGTCAAGCAGGCAAGATGCCTAGATCTTCTGTTATCTTTGACATGTAACATCCTTTTTAGAGGCTCAGAACACCTCCTTGGCTGCTATCTCATGTGTTAGAATCCAGTTTGTGGTGAACCTCTTTGGAAGGGGACCCCCTCTCTTTAAACCCTGTTCCTCTGTCCTGGTAACATTCTCCTTCTAGGAGAGCCTCTCTTCTGAGAAGGTAAAGGAAGGGCTGGGTGAGACACACAGCTATCCTAGGAGCCGTAGGAAGACAAAACTTCCCTTTTGTTTTACTCCTCACTCCTCTATTTTTGTTTTACTCACTTCTTTATATTTTGTTTTACTCCTCACTCCTGTATATTTTGGTTTACTTACTCCTCTATTTCAGAAATTGAAAAAGATCCCCAAGGATCTGTTACTACTGCATTTCCTTCTTGCTCTGTCTACAGCCTAGGCCAACTAGTCAGGGTCTGGACATGCATCTCCTAAAGGAAGAACTGTGTAGCACCATTGATCACAATGTAACATTTCCATGCTGCATTAAGGGTGTCTCTCTCTAATCATGATTGTACCTGTCTCTTCCTGGGTAAAGGGAGATTTTTTTTTTTAATGTGTAAAGAATTGATGCGAGCCAGGAACATGTCTGTAGTCCCAGCTACTTGGGCACACGCCTGTAGTCCAGGCCACTCGAGCACACACCTGTAGTACCAGCTACTCTGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGATTAAGACTGTAGTATACTATGATCGTGCCTGTGGCTAGCCACTGTGCTCCAGCCTGGGCAACACCATCGTAAAAATAAATAAATAAATAAATAAATTGGGGAGGACAGCCTCACTGGTATCAGACTTACAGGACCAGATAGACAAGATGGGTATAAGGGGAGCTGAAGTCTGTGTTCATATGAGGAAGAGAAGACCAAGCCCTGGGACTTTGGCTGAATTCCTCCGTGGGGCTGGACGGCAGTGATCTCCTGTTCCCTATGTGTAAACAAAGATTCCAGGGCGTGGTTTTGCACTCCTGTTGTACTCTTTTAGAGGTGGAAAAGAGGTGGATACTGAGATCTAAGAGGAAAGGATAGTCATTCACGTTCTGAGATATGCGCTCTCTCTATTGTTCTCGTACACAAAGGGATAGTCTCTTTTCTGGAGCTGATGTCCCTGCTTGGAGGTTAGCCCCAAAACATGGCTCTTGTATTGT
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Task1_train_11244
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This mutation occurs in SBDS (SBDS ribosome maturation factor) on Chromosome 7. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Aplastic anemia
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CTCTCAATAAGGATCACGGTGTATGGTCTCTTTGTTTCAGGATTCACACATTTGTCTGCCACAATAGTTGCAATGTCCCTAAACATCTGCTCCAGTTGTGTGTGTCTTTCTTTATCTGATACTTGAACTTCTCCTTTAGTCAAAATCTAAAAAAATGCCAACACATTTAAGAAATCACTATCTTTCTCTATCACACACTATTTATTAACTAACCATAAAAAATGAGTAACTGGATGGAGAGAAAATTAAATTTCATCCTCTCCAGCTATCAATATGTAAGTAATGGTTTGAGCTTTGCCCAAAAGATGCAAGAATCTTTTGGCTGGGCTCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGTGGCTAAGGCGGGCATATCACCCAAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATCCAAAAATTAGCCAGGCAGGGTGGTGGGCACCTGTAATCCCAGCTACCCTGGAAGCTGAGGCAAGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCTGAGTGCAGTGAAGTGCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCCCCCCACCCAAAAAAAAAAGGATCTGAAAGATGAAATACTTGAAAACAAATTCAGTTTTCAGGTATACCACATTCTATAAATGGGGCAATTTATAGAAAAATGAGGTAATTTAGTAGAAAATCTGATTTCAGGAGGTTTTGGCAAAAAAAAAAAAAAAAAAACCACAAAAAACAAACAAAACCACCAAGTTCTTTATTATTAGAAGTGACACTGTGCAGTTCACATTATTGCTTGGTTAGTCTTTCCTCCAGAAAAACAGCCTTTAATGTTTAATATATCTACAAATACGTTATAAATGGTTATTAGGGTTAGCTATGCTGCAGCTGTTACCCACCTGCTTACAGATTTCAGTTTGGTCATCTGTTCCAAACGCACTGATGAGATCTTCCTTTTTGGCAACCTGACCTTTAGAAACATTTACAAACACTGAGTGGGTCTGCAGAACTTCATCGAGGTCTTTTTCCCTTGTGAGGGCAGGAGAGAAAGTCCTATGTGAATATACTTGAAACTTGGACATGCATTTACATTTAAATACGAGATGGCAACAACATGAACGGCAAGACACAACAAATCCCCCTGATGACCTTTAGTGTAGAGGGCAGTTTTCTTTTTCTTACCCCCCAACCCCCGCCCCTAGATGGAATTTCACTGTTTTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGGTCACTGTAACCTCAGCCTCCCGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCATGCGCCACCACACCCGGCTAACTTTGTATTTTTAGTAGAGATGGGGTTTCATGTTGGCCAGGCTGGCCTCGAACTCCTGGCCTCAAGTGAACTGCCCGCATCGGCCTGAGGGAACATTTTCAAAACTCAGAACCGTATTTGCCTTACCATTTGCTCACTGGAGAAAAATGTCATGGGAGGACGTAAGAAACACAAGGGTGGGGTGGGGTGCAGACAGCTGCTGCCACGGAATGCCAGTCCCTAGATGGCAGCAGTGAAGACACTACGCACTTTAAACTGCTAGGGCTACTGAGATCTATGACACCAGATGTACCCACAACTATGACAGTATTCGTAAGACTAGGTTCTCAGCCATCATTATTCTAGGAAAAGGACCACAATTACGAGATTTCTTGGCTGCAGCTTTTATGACACCAACAAAACAAAACCCCAAACCAACAACCCAATCCGAACCAACCAAATAAAGAAGAAACCCTTGGCTTAGGCGCCAAGCTCGGACAGCGACGTCTCATGCTCACAGCAGGAATGTTCCATTTCCTCCCCGGCCAACACCCCAGCCTGGCCCATTCACTCGACTTGGGCAGAGACAGGCCGCCTCGGAGGTGACGGCTCAGGCCCAGGCCCAGGCCCGAGGGAGGGGGCTACTCACACGCCGCTCCGCCAGCCGACGACCTTGTTTTTGTAGCAGGCGATTTCGAAGCGCTTCCCGGCACGCTTCATCCGTACCACGGCCACATTGGTTAGGCGGATCTGGTTGGTGGGGGTGAAGATCGACATCGCGGCTGTTCAAAGACCCAGAAGCCGGCGAACCAGGGCTGACCCGCGCCGTCCAGCCTGAAGGCCACCAGCGCCTCGCGGTAACGACCGATCGGCGCGCGGCACTGACCCAACCACCAGTGCGCGGCGCCGCGACTCACTAGCTTCAGGCAGCCGTCACAGTGTGTCTGGCAGGCTTACTTACTGCGCAGGCGTCAGGTGGAGCAGAAGCCGGGAGGGGAAAAGTGAGCGATGACGCCTGCGTATTGTGGCTTTTTACGCCATCTTTCCACGCCCAAAAAGGGAGGTGCTTTTCCTTGGCGTATTTACTTTCGCCAATGAGCTGAGAGCTCTGACAGGATGCTCGCGGATGTTTAGTGACCGGGTTAAAACACAGCGTTGGCACCACCTCGTTCCGCGGAATTCAAGGGCCAGACCCACTTTATAATATAAATATTTTTTATAATAGAATTATTTTATAATAAATATTTTTATTTACTCACCCTTTTATAATAGAAATATTTTAACATAAAATGTAGACAAAAAAGTGTAATGAACCTTCTATGTACCCATCACCCCGCTATCAACATTTTGCCATCCTTGTTTTATTCTTTTTTCATTTTTTTGTTGCTTTTTTATTTACAGTTTTTTTTTTAAGTCAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGGTCATGGCCCCACTGCAGCTTCGACCTCCTGGGTTCGAGCGATCTTCCAGCGTTAGCTTCCCAAGTAGCTGGGACTACAGGTGTGAGCGGCCACGCCAAGCTAATTTAATTAAATAAATAATTAAAAAAAATTTTTTGTACAGACGAGGTCTCACTATGTTGCTCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCCTCCCGCTTCGGCTTCCCAAGTGCTGGGATTACAGGTTTGAGTCACAGCGCCCGGCCGGTTGGGGGTATTTTAAAGAAACCATCATATGGTTTCAGCATTAAATACTTCAGCCTATAGCCCTTAACAGATACACGCGACGAGATTAACTACAATTCCTTAATATCATCTAATAGCGAGTCCATCCTCGGGTTTCCCAAAAATAATGCCTTTCTACAGTCGGTTTATTTCAGTTAAGATCCAAACAGGCCCACATAGCATTTCCCCCGCTCCCCGCTCCTTTCCTCTTTTAATTTTCCCATGCCAATCATTTCTCTCTGGGCCCGCCTTTTCCCAGTCTGAGCCAATCCAAATGGAGGCGGAAGCGCTCCGCCTTCATCGCCTGGAACTCTGGGAGGTGCTTATTTCTGGGCACGCCCCCTTTCCCCTCTGAGCCAATCGGAGCAGGGCCGAGAGCGCACCGGGCACTGGCTTCCTTTCCCGGAGCTCTGGGCTTTCCTCTGGGCCCACCTCTTCGTCCTCTGAACCAATCAGGACCGGCCTGGCAGTGTCATGGCTGCCCACAGGTCTGCAGGCACTCGGTACGCCGCTAACGCGGCGAGGTAGCTCGGTGCGTCTCGCGGTACCAGTGCGAATCATCGGGCTATCCAGGTCCGAGATCCTAGTCTCCTGTCGGCTCTGAGGAGGATGGGTAAGGGCACTCGGCGGGCAAGGACCCTGGGGCGGCAGGGGAGGTAAACGTTTTACTGAGACCCTCTCCGGGCGGAGTGGCGTCCTCGGTCCCTTTCCTTCGGAGACTGTTGCACTTGACAGCACCGGCTAGTCGCCGCTGAGAGCAAGGAGGACTGATCCCTACTTTTGACCTGGCTTTTGCCTTTTGAGGCTAGGGGGTTAGACAGAAAACTACCCCTCCCACTTTACCTACGTGTATTAGGACTTTTGCACCTGTAAAGCCTAAATTTCAGGCCTCGACTTTTGAAATTGCTCCCAGGTTGAACGTTTGAAGCCAGGTCCCTGCATATCTCTCTTAAAAAAAAAAAAATGAGGTGTAAGGTCAGTTACTTGAGAATCTTTTA
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CTCTCAATAAGGATCACGGTGTATGGTCTCTTTGTTTCAGGATTCACACATTTGTCTGCCACAATAGTTGCAATGTCCCTAAACATCTGCTCCAGTTGTGTGTGTCTTTCTTTATCTGATACTTGAACTTCTCCTTTAGTCAAAATCTAAAAAAATGCCAACACATTTAAGAAATCACTATCTTTCTCTATCACACACTATTTATTAACTAACCATAAAAAATGAGTAACTGGATGGAGAGAAAATTAAATTTCATCCTCTCCAGCTATCAATATGTAAGTAATGGTTTGAGCTTTGCCCAAAAGATGCAAGAATCTTTTGGCTGGGCTCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGTGGCTAAGGCGGGCATATCACCCAAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATCCAAAAATTAGCCAGGCAGGGTGGTGGGCACCTGTAATCCCAGCTACCCTGGAAGCTGAGGCAAGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCTGAGTGCAGTGAAGTGCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCCCCCCACCCAAAAAAAAAAGGATCTGAAAGATGAAATACTTGAAAACAAATTCAGTTTTCAGGTATACCACATTCTATAAATGGGGCAATTTATAGAAAAATGAGGTAATTTAGTAGAAAATCTGATTTCAGGAGGTTTTGGCAAAAAAAAAAAAAAAAAAACCACAAAAAACAAACAAAACCACCAAGTTCTTTATTATTAGAAGTGACACTGTGCAGTTCACATTATTGCTTGGTTAGTCTTTCCTCCAGAAAAACAGCCTTTAATGTTTAATATATCTACAAATACGTTATAAATGGTTATTAGGGTTAGCTATGCTGCAGCTGTTACCCACCTGCTTACAGATTTCAGTTTGGTCATCTGTTCCAAACGCACTGATGAGATCTTCCTTTTTGGCAACCTGACCTTTAGAAACATTTACAAACACTGAGTGGGTCTGCAGAACTTCATCGAGGTCTTTTTCCCTTGTGAGGGCAGGAGAGAAAGTCCTATGTGAATATACTTGAAACTTGGACATGCATTTACATTTAAATACGAGATGGCAACAACATGAACGGCAAGACACAACAAATCCCCCTGATGACCTTTAGTGTAGAGGGCAGTTTTCTTTTTCTTACCCCCCAACCCCCGCCCCTAGATGGAATTTCACTGTTTTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGGTCACTGTAACCTCAGCCTCCCGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCATGCGCCACCACACCCGGCTAACTTTGTATTTTTAGTAGAGATGGGGTTTCATGTTGGCCAGGCTGGCCTCGAACTCCTGGCCTCAAGTGAACTGCCCGCATCGGCCTGAGGGAACATTTTCAAAACTCAGAACCGTATTTGCCTTACCATTTGCTCACTGGAGAAAAATGTCATGGGAGGACGTAAGAAACACAAGGGTGGGGTGGGGTGCAGACAGCTGCTGCCACGGAATGCCAGTCCCTAGATGGCAGCAGTGAAGACACTACGCACTTTAAACTGCTAGGGCTACTGAGATCTATGACACCAGATGTACCCACAACTATGACAGTATTCGTAAGACTAGGTTCTCAGCCATCATTATTCTAGGAAAAGGACCACAATTACGAGATTTCTTGGCTGCAGCTTTTATGACACCAACAAAACAAAACCCCAAACCAACAACCCAATCCGAACCAACCAAATAAAGAAGAAACCCTTGGCTTAGGCGCCAAGCTCGGACAGCGACGTCTCATGCTCACAGCAGGAATGTTCCATTTCCTCCCCGGCCAACACCCCAGCCTGGCCCATTCACTCGACTTGGGCAGAGACAGGCCGCCTCGGAGGTGACGGCTCAGGCCCAGGCCCAGGCCCGAGGGAGGGGGCTACTCACACGCCGCTCCGCCAGCCGACGACCTTGTTTGTGTAGCAGGCGATTTCGAAGCGCTTCCCGGCACGCTTCATCCGTACCACGGCCACATTGGTTAGGCGGATCTGGTTGGTGGGGGTGAAGATCGACATCGCGGCTGTTCAAAGACCCAGAAGCCGGCGAACCAGGGCTGACCCGCGCCGTCCAGCCTGAAGGCCACCAGCGCCTCGCGGTAACGACCGATCGGCGCGCGGCACTGACCCAACCACCAGTGCGCGGCGCCGCGACTCACTAGCTTCAGGCAGCCGTCACAGTGTGTCTGGCAGGCTTACTTACTGCGCAGGCGTCAGGTGGAGCAGAAGCCGGGAGGGGAAAAGTGAGCGATGACGCCTGCGTATTGTGGCTTTTTACGCCATCTTTCCACGCCCAAAAAGGGAGGTGCTTTTCCTTGGCGTATTTACTTTCGCCAATGAGCTGAGAGCTCTGACAGGATGCTCGCGGATGTTTAGTGACCGGGTTAAAACACAGCGTTGGCACCACCTCGTTCCGCGGAATTCAAGGGCCAGACCCACTTTATAATATAAATATTTTTTATAATAGAATTATTTTATAATAAATATTTTTATTTACTCACCCTTTTATAATAGAAATATTTTAACATAAAATGTAGACAAAAAAGTGTAATGAACCTTCTATGTACCCATCACCCCGCTATCAACATTTTGCCATCCTTGTTTTATTCTTTTTTCATTTTTTTGTTGCTTTTTTATTTACAGTTTTTTTTTTAAGTCAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGGTCATGGCCCCACTGCAGCTTCGACCTCCTGGGTTCGAGCGATCTTCCAGCGTTAGCTTCCCAAGTAGCTGGGACTACAGGTGTGAGCGGCCACGCCAAGCTAATTTAATTAAATAAATAATTAAAAAAAATTTTTTGTACAGACGAGGTCTCACTATGTTGCTCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCCTCCCGCTTCGGCTTCCCAAGTGCTGGGATTACAGGTTTGAGTCACAGCGCCCGGCCGGTTGGGGGTATTTTAAAGAAACCATCATATGGTTTCAGCATTAAATACTTCAGCCTATAGCCCTTAACAGATACACGCGACGAGATTAACTACAATTCCTTAATATCATCTAATAGCGAGTCCATCCTCGGGTTTCCCAAAAATAATGCCTTTCTACAGTCGGTTTATTTCAGTTAAGATCCAAACAGGCCCACATAGCATTTCCCCCGCTCCCCGCTCCTTTCCTCTTTTAATTTTCCCATGCCAATCATTTCTCTCTGGGCCCGCCTTTTCCCAGTCTGAGCCAATCCAAATGGAGGCGGAAGCGCTCCGCCTTCATCGCCTGGAACTCTGGGAGGTGCTTATTTCTGGGCACGCCCCCTTTCCCCTCTGAGCCAATCGGAGCAGGGCCGAGAGCGCACCGGGCACTGGCTTCCTTTCCCGGAGCTCTGGGCTTTCCTCTGGGCCCACCTCTTCGTCCTCTGAACCAATCAGGACCGGCCTGGCAGTGTCATGGCTGCCCACAGGTCTGCAGGCACTCGGTACGCCGCTAACGCGGCGAGGTAGCTCGGTGCGTCTCGCGGTACCAGTGCGAATCATCGGGCTATCCAGGTCCGAGATCCTAGTCTCCTGTCGGCTCTGAGGAGGATGGGTAAGGGCACTCGGCGGGCAAGGACCCTGGGGCGGCAGGGGAGGTAAACGTTTTACTGAGACCCTCTCCGGGCGGAGTGGCGTCCTCGGTCCCTTTCCTTCGGAGACTGTTGCACTTGACAGCACCGGCTAGTCGCCGCTGAGAGCAAGGAGGACTGATCCCTACTTTTGACCTGGCTTTTGCCTTTTGAGGCTAGGGGGTTAGACAGAAAACTACCCCTCCCACTTTACCTACGTGTATTAGGACTTTTGCACCTGTAAAGCCTAAATTTCAGGCCTCGACTTTTGAAATTGCTCCCAGGTTGAACGTTTGAAGCCAGGTCCCTGCATATCTCTCTTAAAAAAAAAAAAATGAGGTGTAAGGTCAGTTACTTGAGAATCTTTTA
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Task1_train_11245
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The gene SBDS (SBDS ribosome maturation factor), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Shwachman-Diamond syndrome 1
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CTCTCAATAAGGATCACGGTGTATGGTCTCTTTGTTTCAGGATTCACACATTTGTCTGCCACAATAGTTGCAATGTCCCTAAACATCTGCTCCAGTTGTGTGTGTCTTTCTTTATCTGATACTTGAACTTCTCCTTTAGTCAAAATCTAAAAAAATGCCAACACATTTAAGAAATCACTATCTTTCTCTATCACACACTATTTATTAACTAACCATAAAAAATGAGTAACTGGATGGAGAGAAAATTAAATTTCATCCTCTCCAGCTATCAATATGTAAGTAATGGTTTGAGCTTTGCCCAAAAGATGCAAGAATCTTTTGGCTGGGCTCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGTGGCTAAGGCGGGCATATCACCCAAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATCCAAAAATTAGCCAGGCAGGGTGGTGGGCACCTGTAATCCCAGCTACCCTGGAAGCTGAGGCAAGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCTGAGTGCAGTGAAGTGCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCCCCCCACCCAAAAAAAAAAGGATCTGAAAGATGAAATACTTGAAAACAAATTCAGTTTTCAGGTATACCACATTCTATAAATGGGGCAATTTATAGAAAAATGAGGTAATTTAGTAGAAAATCTGATTTCAGGAGGTTTTGGCAAAAAAAAAAAAAAAAAAACCACAAAAAACAAACAAAACCACCAAGTTCTTTATTATTAGAAGTGACACTGTGCAGTTCACATTATTGCTTGGTTAGTCTTTCCTCCAGAAAAACAGCCTTTAATGTTTAATATATCTACAAATACGTTATAAATGGTTATTAGGGTTAGCTATGCTGCAGCTGTTACCCACCTGCTTACAGATTTCAGTTTGGTCATCTGTTCCAAACGCACTGATGAGATCTTCCTTTTTGGCAACCTGACCTTTAGAAACATTTACAAACACTGAGTGGGTCTGCAGAACTTCATCGAGGTCTTTTTCCCTTGTGAGGGCAGGAGAGAAAGTCCTATGTGAATATACTTGAAACTTGGACATGCATTTACATTTAAATACGAGATGGCAACAACATGAACGGCAAGACACAACAAATCCCCCTGATGACCTTTAGTGTAGAGGGCAGTTTTCTTTTTCTTACCCCCCAACCCCCGCCCCTAGATGGAATTTCACTGTTTTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGGTCACTGTAACCTCAGCCTCCCGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCATGCGCCACCACACCCGGCTAACTTTGTATTTTTAGTAGAGATGGGGTTTCATGTTGGCCAGGCTGGCCTCGAACTCCTGGCCTCAAGTGAACTGCCCGCATCGGCCTGAGGGAACATTTTCAAAACTCAGAACCGTATTTGCCTTACCATTTGCTCACTGGAGAAAAATGTCATGGGAGGACGTAAGAAACACAAGGGTGGGGTGGGGTGCAGACAGCTGCTGCCACGGAATGCCAGTCCCTAGATGGCAGCAGTGAAGACACTACGCACTTTAAACTGCTAGGGCTACTGAGATCTATGACACCAGATGTACCCACAACTATGACAGTATTCGTAAGACTAGGTTCTCAGCCATCATTATTCTAGGAAAAGGACCACAATTACGAGATTTCTTGGCTGCAGCTTTTATGACACCAACAAAACAAAACCCCAAACCAACAACCCAATCCGAACCAACCAAATAAAGAAGAAACCCTTGGCTTAGGCGCCAAGCTCGGACAGCGACGTCTCATGCTCACAGCAGGAATGTTCCATTTCCTCCCCGGCCAACACCCCAGCCTGGCCCATTCACTCGACTTGGGCAGAGACAGGCCGCCTCGGAGGTGACGGCTCAGGCCCAGGCCCAGGCCCGAGGGAGGGGGCTACTCACACGCCGCTCCGCCAGCCGACGACCTTGTTTTTGTAGCAGGCGATTTCGAAGCGCTTCCCGGCACGCTTCATCCGTACCACGGCCACATTGGTTAGGCGGATCTGGTTGGTGGGGGTGAAGATCGACATCGCGGCTGTTCAAAGACCCAGAAGCCGGCGAACCAGGGCTGACCCGCGCCGTCCAGCCTGAAGGCCACCAGCGCCTCGCGGTAACGACCGATCGGCGCGCGGCACTGACCCAACCACCAGTGCGCGGCGCCGCGACTCACTAGCTTCAGGCAGCCGTCACAGTGTGTCTGGCAGGCTTACTTACTGCGCAGGCGTCAGGTGGAGCAGAAGCCGGGAGGGGAAAAGTGAGCGATGACGCCTGCGTATTGTGGCTTTTTACGCCATCTTTCCACGCCCAAAAAGGGAGGTGCTTTTCCTTGGCGTATTTACTTTCGCCAATGAGCTGAGAGCTCTGACAGGATGCTCGCGGATGTTTAGTGACCGGGTTAAAACACAGCGTTGGCACCACCTCGTTCCGCGGAATTCAAGGGCCAGACCCACTTTATAATATAAATATTTTTTATAATAGAATTATTTTATAATAAATATTTTTATTTACTCACCCTTTTATAATAGAAATATTTTAACATAAAATGTAGACAAAAAAGTGTAATGAACCTTCTATGTACCCATCACCCCGCTATCAACATTTTGCCATCCTTGTTTTATTCTTTTTTCATTTTTTTGTTGCTTTTTTATTTACAGTTTTTTTTTTAAGTCAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGGTCATGGCCCCACTGCAGCTTCGACCTCCTGGGTTCGAGCGATCTTCCAGCGTTAGCTTCCCAAGTAGCTGGGACTACAGGTGTGAGCGGCCACGCCAAGCTAATTTAATTAAATAAATAATTAAAAAAAATTTTTTGTACAGACGAGGTCTCACTATGTTGCTCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCCTCCCGCTTCGGCTTCCCAAGTGCTGGGATTACAGGTTTGAGTCACAGCGCCCGGCCGGTTGGGGGTATTTTAAAGAAACCATCATATGGTTTCAGCATTAAATACTTCAGCCTATAGCCCTTAACAGATACACGCGACGAGATTAACTACAATTCCTTAATATCATCTAATAGCGAGTCCATCCTCGGGTTTCCCAAAAATAATGCCTTTCTACAGTCGGTTTATTTCAGTTAAGATCCAAACAGGCCCACATAGCATTTCCCCCGCTCCCCGCTCCTTTCCTCTTTTAATTTTCCCATGCCAATCATTTCTCTCTGGGCCCGCCTTTTCCCAGTCTGAGCCAATCCAAATGGAGGCGGAAGCGCTCCGCCTTCATCGCCTGGAACTCTGGGAGGTGCTTATTTCTGGGCACGCCCCCTTTCCCCTCTGAGCCAATCGGAGCAGGGCCGAGAGCGCACCGGGCACTGGCTTCCTTTCCCGGAGCTCTGGGCTTTCCTCTGGGCCCACCTCTTCGTCCTCTGAACCAATCAGGACCGGCCTGGCAGTGTCATGGCTGCCCACAGGTCTGCAGGCACTCGGTACGCCGCTAACGCGGCGAGGTAGCTCGGTGCGTCTCGCGGTACCAGTGCGAATCATCGGGCTATCCAGGTCCGAGATCCTAGTCTCCTGTCGGCTCTGAGGAGGATGGGTAAGGGCACTCGGCGGGCAAGGACCCTGGGGCGGCAGGGGAGGTAAACGTTTTACTGAGACCCTCTCCGGGCGGAGTGGCGTCCTCGGTCCCTTTCCTTCGGAGACTGTTGCACTTGACAGCACCGGCTAGTCGCCGCTGAGAGCAAGGAGGACTGATCCCTACTTTTGACCTGGCTTTTGCCTTTTGAGGCTAGGGGGTTAGACAGAAAACTACCCCTCCCACTTTACCTACGTGTATTAGGACTTTTGCACCTGTAAAGCCTAAATTTCAGGCCTCGACTTTTGAAATTGCTCCCAGGTTGAACGTTTGAAGCCAGGTCCCTGCATATCTCTCTTAAAAAAAAAAAAATGAGGTGTAAGGTCAGTTACTTGAGAATCTTTTA
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CTCTCAATAAGGATCACGGTGTATGGTCTCTTTGTTTCAGGATTCACACATTTGTCTGCCACAATAGTTGCAATGTCCCTAAACATCTGCTCCAGTTGTGTGTGTCTTTCTTTATCTGATACTTGAACTTCTCCTTTAGTCAAAATCTAAAAAAATGCCAACACATTTAAGAAATCACTATCTTTCTCTATCACACACTATTTATTAACTAACCATAAAAAATGAGTAACTGGATGGAGAGAAAATTAAATTTCATCCTCTCCAGCTATCAATATGTAAGTAATGGTTTGAGCTTTGCCCAAAAGATGCAAGAATCTTTTGGCTGGGCTCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGTGGCTAAGGCGGGCATATCACCCAAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATCCAAAAATTAGCCAGGCAGGGTGGTGGGCACCTGTAATCCCAGCTACCCTGGAAGCTGAGGCAAGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCTGAGTGCAGTGAAGTGCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCCCCCCACCCAAAAAAAAAAGGATCTGAAAGATGAAATACTTGAAAACAAATTCAGTTTTCAGGTATACCACATTCTATAAATGGGGCAATTTATAGAAAAATGAGGTAATTTAGTAGAAAATCTGATTTCAGGAGGTTTTGGCAAAAAAAAAAAAAAAAAAACCACAAAAAACAAACAAAACCACCAAGTTCTTTATTATTAGAAGTGACACTGTGCAGTTCACATTATTGCTTGGTTAGTCTTTCCTCCAGAAAAACAGCCTTTAATGTTTAATATATCTACAAATACGTTATAAATGGTTATTAGGGTTAGCTATGCTGCAGCTGTTACCCACCTGCTTACAGATTTCAGTTTGGTCATCTGTTCCAAACGCACTGATGAGATCTTCCTTTTTGGCAACCTGACCTTTAGAAACATTTACAAACACTGAGTGGGTCTGCAGAACTTCATCGAGGTCTTTTTCCCTTGTGAGGGCAGGAGAGAAAGTCCTATGTGAATATACTTGAAACTTGGACATGCATTTACATTTAAATACGAGATGGCAACAACATGAACGGCAAGACACAACAAATCCCCCTGATGACCTTTAGTGTAGAGGGCAGTTTTCTTTTTCTTACCCCCCAACCCCCGCCCCTAGATGGAATTTCACTGTTTTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGGTCACTGTAACCTCAGCCTCCCGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCATGCGCCACCACACCCGGCTAACTTTGTATTTTTAGTAGAGATGGGGTTTCATGTTGGCCAGGCTGGCCTCGAACTCCTGGCCTCAAGTGAACTGCCCGCATCGGCCTGAGGGAACATTTTCAAAACTCAGAACCGTATTTGCCTTACCATTTGCTCACTGGAGAAAAATGTCATGGGAGGACGTAAGAAACACAAGGGTGGGGTGGGGTGCAGACAGCTGCTGCCACGGAATGCCAGTCCCTAGATGGCAGCAGTGAAGACACTACGCACTTTAAACTGCTAGGGCTACTGAGATCTATGACACCAGATGTACCCACAACTATGACAGTATTCGTAAGACTAGGTTCTCAGCCATCATTATTCTAGGAAAAGGACCACAATTACGAGATTTCTTGGCTGCAGCTTTTATGACACCAACAAAACAAAACCCCAAACCAACAACCCAATCCGAACCAACCAAATAAAGAAGAAACCCTTGGCTTAGGCGCCAAGCTCGGACAGCGACGTCTCATGCTCACAGCAGGAATGTTCCATTTCCTCCCCGGCCAACACCCCAGCCTGGCCCATTCACTCGACTTGGGCAGAGACAGGCCGCCTCGGAGGTGACGGCTCAGGCCCAGGCCCAGGCCCGAGGGAGGGGGCTACTCACACGCCGCTCCGCCAGCCGACGACCTTGTTTGTGTAGCAGGCGATTTCGAAGCGCTTCCCGGCACGCTTCATCCGTACCACGGCCACATTGGTTAGGCGGATCTGGTTGGTGGGGGTGAAGATCGACATCGCGGCTGTTCAAAGACCCAGAAGCCGGCGAACCAGGGCTGACCCGCGCCGTCCAGCCTGAAGGCCACCAGCGCCTCGCGGTAACGACCGATCGGCGCGCGGCACTGACCCAACCACCAGTGCGCGGCGCCGCGACTCACTAGCTTCAGGCAGCCGTCACAGTGTGTCTGGCAGGCTTACTTACTGCGCAGGCGTCAGGTGGAGCAGAAGCCGGGAGGGGAAAAGTGAGCGATGACGCCTGCGTATTGTGGCTTTTTACGCCATCTTTCCACGCCCAAAAAGGGAGGTGCTTTTCCTTGGCGTATTTACTTTCGCCAATGAGCTGAGAGCTCTGACAGGATGCTCGCGGATGTTTAGTGACCGGGTTAAAACACAGCGTTGGCACCACCTCGTTCCGCGGAATTCAAGGGCCAGACCCACTTTATAATATAAATATTTTTTATAATAGAATTATTTTATAATAAATATTTTTATTTACTCACCCTTTTATAATAGAAATATTTTAACATAAAATGTAGACAAAAAAGTGTAATGAACCTTCTATGTACCCATCACCCCGCTATCAACATTTTGCCATCCTTGTTTTATTCTTTTTTCATTTTTTTGTTGCTTTTTTATTTACAGTTTTTTTTTTAAGTCAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGGTCATGGCCCCACTGCAGCTTCGACCTCCTGGGTTCGAGCGATCTTCCAGCGTTAGCTTCCCAAGTAGCTGGGACTACAGGTGTGAGCGGCCACGCCAAGCTAATTTAATTAAATAAATAATTAAAAAAAATTTTTTGTACAGACGAGGTCTCACTATGTTGCTCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCCTCCCGCTTCGGCTTCCCAAGTGCTGGGATTACAGGTTTGAGTCACAGCGCCCGGCCGGTTGGGGGTATTTTAAAGAAACCATCATATGGTTTCAGCATTAAATACTTCAGCCTATAGCCCTTAACAGATACACGCGACGAGATTAACTACAATTCCTTAATATCATCTAATAGCGAGTCCATCCTCGGGTTTCCCAAAAATAATGCCTTTCTACAGTCGGTTTATTTCAGTTAAGATCCAAACAGGCCCACATAGCATTTCCCCCGCTCCCCGCTCCTTTCCTCTTTTAATTTTCCCATGCCAATCATTTCTCTCTGGGCCCGCCTTTTCCCAGTCTGAGCCAATCCAAATGGAGGCGGAAGCGCTCCGCCTTCATCGCCTGGAACTCTGGGAGGTGCTTATTTCTGGGCACGCCCCCTTTCCCCTCTGAGCCAATCGGAGCAGGGCCGAGAGCGCACCGGGCACTGGCTTCCTTTCCCGGAGCTCTGGGCTTTCCTCTGGGCCCACCTCTTCGTCCTCTGAACCAATCAGGACCGGCCTGGCAGTGTCATGGCTGCCCACAGGTCTGCAGGCACTCGGTACGCCGCTAACGCGGCGAGGTAGCTCGGTGCGTCTCGCGGTACCAGTGCGAATCATCGGGCTATCCAGGTCCGAGATCCTAGTCTCCTGTCGGCTCTGAGGAGGATGGGTAAGGGCACTCGGCGGGCAAGGACCCTGGGGCGGCAGGGGAGGTAAACGTTTTACTGAGACCCTCTCCGGGCGGAGTGGCGTCCTCGGTCCCTTTCCTTCGGAGACTGTTGCACTTGACAGCACCGGCTAGTCGCCGCTGAGAGCAAGGAGGACTGATCCCTACTTTTGACCTGGCTTTTGCCTTTTGAGGCTAGGGGGTTAGACAGAAAACTACCCCTCCCACTTTACCTACGTGTATTAGGACTTTTGCACCTGTAAAGCCTAAATTTCAGGCCTCGACTTTTGAAATTGCTCCCAGGTTGAACGTTTGAAGCCAGGTCCCTGCATATCTCTCTTAAAAAAAAAAAAATGAGGTGTAAGGTCAGTTACTTGAGAATCTTTTA
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Task1_train_11246
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The gene AUTS2 (activator of transcription and developmental regulator AUTS2) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Autism spectrum disorder due to AUTS2 deficiency
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GGGTCGCTCGTCCACGCACTGTGGTGCCACGTGGAGGAAAAGTTTCCAACTCTGCCAGTTGGTGCTCCCACTGCGCCCAGGCGGAGCAAAGGCCCGCGCTTTGGCACCCGCTCCCCGTTCTGTCTCCTCCAGTCGCGCCCCCTCCCAGGGACGCCCCCCTTGTACCCCTTCTCTGAATTCCCTTCTCTCCTCGCAGCGCAGGTAGCCAAGGGAAAACACCCTTGGGGGCTGGTGGGGCTTCCCGAGAAGGCGGCCTCGGGCCGGCCAGGGGTAGAGGATCCAGGGACAAGTGTCCCGAGGAGGATGTGGGGGGCGCGCGCGCGAAGTGGCCTGGGAGCAGGGGCCCACACGCGTCCCCGCTGCGACAGGCGGGATCCTCCGGCGGCTTCCACGCCCTGGCGCGCCAACTCTGCCCGGCCGCGGCCGACCCCACGCGGGCGCCCCCTCCACGCCCCCGCCCCCGCCCCCCTCACAGCTCCCCACCGCCCCCAGTGCGCAGGCCCGGCCGCCCCAGCGCGCATGCCCTGGGCTCGCGAGCGCGGCCAGCCCCCAGCCTTTTGCTTTCTACACACTCTACAACTGGGGAGGGGGCGGGGGAGGAGGGAGCCCAGCCGTCCACGTGATCCCGCCGGCCGGGGCCGCGGGGGCGGGAGCGCGCGCCGAGAGAGGCGCGGGGAGGGCGGGTGCGCGGGAGCGCGCGCACTCGAGCGAGCGAGCGAAAGCACGAACGAGCGAGCGAGCGAGCGAGCGAGCGGGCGGGCGCGGGGTTGGGCTGAGGCGGGCGGCGGCGGCGGCGGCGGCGGTGGGCTGGCCGCGGAGGGGGAGGAGCGGGAGCTGCGCGAGGCAGGCGGGCGGGCGGAGGATGGGGCAGTGCCCGGGCTCCCGCTGCAGCCGCCCGGGGACACGCCGTGCACCCTCCGGCTCGGGGCTTTCTCGGCGGCGGCGGCGGCAGCAGCAGCAGCGTTAGCGGCGGCGGCGAGAGCAGCGTTCCCGGCTGCGCTTCTCCCTCAGGCGGGGCGGCGAGAGAAGCGGCGGCGGCGGCGGCGGCACACCGGTGTCTCTCCCGCTGGAGATTTCTTTCTGCTTTCCTCATCGACTGACTGACTCACCCCCTCCCTTTTTTGAGGAAGGGTGACCTCTTCTCTGGGACTGGAAAAAATATTTTTGTGAGGAGGGGGGCGGGTGGCAGCGACAGGGTTTGCTTCTTCTCTTCTTTCATCTCCCTCTCCTCCCCCCTCGAAGACCGAAAAGCAAACCCCACAACTGCTCCAGCAGCATCCTCCTTCCCTTCCTCCGCCTCCCTTCTCCTCCGCCGCTCGCAGTTTCGCCCTCTCTTCCGCTAATGATTGCATTATTATGCTCCCCTCTCTGGGGGGTCTCGCCCCTCTTGGGTCGCTCCGGAGCCCCGGCCTCCCCTGGCTGCATTTCTTAAAAATTTGGGAGCCTGGGAGTGAGTTTTCTCCGAGGCGTGTGTGAGAGGCGGCGGGGGTGTTTTCCTGCGCGAGGGGCGGGTGAAGTTCATTGCCCCCACTTTTCCCGCGACCTTTTTCGGACCCGATTTTGGATCGAGTTGAGGGGGGCGCGGGCGTTTTCGGGGGGCGGGGGGCGCGGCGGAGAATGGCCGCGGGGAGGGCTCCCCGGAGCCTCCCAGTCTCTTGATCAAAGCATTCCGCTATTCTGATTTATTGCTTGCTTGGTGAGTTATTTTTTTTTCCTCTAAAGGAGACCTGTGTGTTCAGCCATTACTTTGCTCGGCGCTGCTCCCAGGCATCTCCGACCCTCGGTGCTGTGGGGAGCCCCACACTTGGGCTCCTCGCCTCTCGCCCTCGCTCCCCGTCCCTCCTCCCCTCTCTCCGCCCCTTCCCCCTTTTCTTTCTCCTCTCTTTCTTCCCCTCTCTCCCTTCTTTCGGCCGCCGTCTCCCCCGCGCCCTCCTCGGGGCGGAGGGAAGCCGTGAAGGGGGAGGGAGGGCTCGGTGTCAATTTTTTTTTGTGTGGCTGCGGCCGTAGCCTGTGGCGGGCAAGCGGGGAGACCCCGGCGCAGCAGAACCATGGATGGCCCGACGCGGGGCCATGGACTCCGCAAAAAGCGGCGGTCGCGGTCGCAGCGAGACCGGGAGAGGCGCTCCCGGGGCGGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCCGGACCCGGGCGCTCTCACTCGCCTCGTCGTCGGGCTCCGACAAGGAAGACAATGGGAAGCCCCCGTCCTCCGCCCCGTCCCGGCCCAGACCCCCGCGGAGGAAGCGGAGAGAGTCCACCTCGGCAGAAGAGGACATCATTGATGGATTTGCCATGACCAGCTTTGTCACTTTTGAAGCGCTGGAGGTAAGGGGGACCCCCCTTCCCCCGGGTTCCCTTTATGCACGACCCCACTCGGCTGCGCCCGGCTCTCCTGCCTCCCTCGCCGCGCTCCGGGCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTAGGCTGAGGTCTTATTGTTGGTGGGGGGAGCTGGGGGCGCGGGCAGACAGGCAGCAGGAGGGAGTCGCAAAGCCGTGCCTGGTCTCGTTTCCTCGCTCGCCTTTCCCCTGCGCCCCCTCCCTGCACCCCCTCCACAGCAGATGGGCAGAAAGAAAGGGGTTCGGGCATCACAACAATGCGCCCCCTCTCCACAGAGAGCTCTGCCCCCACTCCTTCCTCCTCTCCCTCCCCAATCATGGCTTCTTGGCTGGTGGAAGTCTCTTTGCTGGGTTTGGGGCGCCTGTGGACGGTTCTGTGTGCTTTCTACAGAGTCATATGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTAGTATATACCTTTCCCGGGTGTCCTCGGGACTGGAGACTGATGGGGTTTTGTGATTTCTTTGCGCCTCCCCCCATTACCCCCCCATATTCTTTTTTTTTTTTTTTTTTTGGTGAAGCTGGGGAAGGGGGCGTTTTCTCCTGGTTGGGAGAAAGGAGGGAGGAGGGGAGAGAAGAGGGAAGGGTGGAATAGCTCTCTGTATTCTGTATGGGGTTCTGTTACAGAAAGGGTTAATTATAATATTATCTATACACATACATAGGCACATGTGTGTGTGTACATGAGCAATTTAGTTAAAGGACAGAAAAAGGTACACCAGGGAAGACTGGTGGGAGGGAAGAATAAAATCCTAGCTGCTATCTGAAGGGCTTGTCACCAATTGTCCCTCTCCCTTTCCTTTTTTGTGTTTTCTTTTTTTTCTTTCTAAGTGATTGGCTTTGTGTGTGTCTATGTGTGTGTCTTTCTTTATTCCTTGGGCACCTGCAGCGTTGATTTTCAAATGCACATTTTCCTTCCAGCCAACTGGCTCCTAGGGTAGGGGGAAAGGGAAAAGGGAGGGAGGGGGAGACTGTCCAGGGTTGGGGGGAAACTGTCTTTGCCTGGACCTGTCTCCTTTGGTGTGGTATTGGTCATTGGCCTCTATAAATTTAACCGCCTAATTTCCTCCCCCACCTCCCTGTCCCCACCCCCCACACACCATGCACACACACACAGAAGGCTTTGAGATTCTGCAGAGTTGGTCCACCTTTCTTAAGCACAAAACCAAGATACGGTTTATAGTTGGCTTATAGTGTTTCATGCACCTGATGTGATGGTTTGAGGTTCCTGAAGGAAACTTTTCCCTTTCCATTTTTTTTTTTGCGTTATTATGGTATTGTTTCACATGCTCAGATGCAAGCTTTGTTAATGACAGCTTAAATCTCACATACGGTAACTGTACAGGTTTAGATTGCTGGTTCTGTTTATGTGTTTGGGTGTCAGCTTTAAATATTTTTTTCAAAGGAAGGCTTCCTATCAGTGTTGTCCTTTTCTGTGTGAACTGCTTTTGGTTTGGGCTGCTGGTGGTGATGGTGGTGGATGGTGGCCAGTGGTTGGGAGTAAGGGAGGTATTGGTGGTGGTGGTGGTGGTGCAGGTGGTGGTGATGGTGATGTTGGTGGTATTGGTGGTGGTCGTAGATTTTGATGTTAGTGATTGAATCAGTTACTCTCTGGTTCTAGAATTGGTGCTTTATTGGCCAAAATTTTGAGTGTTGAG
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GGGTCGCTCGTCCACGCACTGTGGTGCCACGTGGAGGAAAAGTTTCCAACTCTGCCAGTTGGTGCTCCCACTGCGCCCAGGCGGAGCAAAGGCCCGCGCTTTGGCACCCGCTCCCCGTTCTGTCTCCTCCAGTCGCGCCCCCTCCCAGGGACGCCCCCCTTGTACCCCTTCTCTGAATTCCCTTCTCTCCTCGCAGCGCAGGTAGCCAAGGGAAAACACCCTTGGGGGCTGGTGGGGCTTCCCGAGAAGGCGGCCTCGGGCCGGCCAGGGGTAGAGGATCCAGGGACAAGTGTCCCGAGGAGGATGTGGGGGGCGCGCGCGCGAAGTGGCCTGGGAGCAGGGGCCCACACGCGTCCCCGCTGCGACAGGCGGGATCCTCCGGCGGCTTCCACGCCCTGGCGCGCCAACTCTGCCCGGCCGCGGCCGACCCCACGCGGGCGCCCCCTCCACGCCCCCGCCCCCGCCCCCCTCACAGCTCCCCACCGCCCCCAGTGCGCAGGCCCGGCCGCCCCAGCGCGCATGCCCTGGGCTCGCGAGCGCGGCCAGCCCCCAGCCTTTTGCTTTCTACACACTCTACAACTGGGGAGGGGGCGGGGGAGGAGGGAGCCCAGCCGTCCACGTGATCCCGCCGGCCGGGGCCGCGGGGGCGGGAGCGCGCGCCGAGAGAGGCGCGGGGAGGGCGGGTGCGCGGGAGCGCGCGCACTCGAGCGAGCGAGCGAAAGCACGAACGAGCGAGCGAGCGAGCGAGCGAGCGGGCGGGCGCGGGGTTGGGCTGAGGCGGGCGGCGGCGGCGGCGGCGGCGGTGGGCTGGCCGCGGAGGGGGAGGAGCGGGAGCTGCGCGAGGCAGGCGGGCGGGCGGAGGATGGGGCAGTGCCCGGGCTCCCGCTGCAGCCGCCCGGGGACACGCCGTGCACCCTCCGGCTCGGGGCTTTCTCGGCGGCGGCGGCGGCAGCAGCAGCAGCGTTAGCGGCGGCGGCGAGAGCAGCGTTCCCGGCTGCGCTTCTCCCTCAGGCGGGGCGGCGAGAGAAGCGGCGGCGGCGGCGGCGGCACACCGGTGTCTCTCCCGCTGGAGATTTCTTTCTGCTTTCCTCATCGACTGACTGACTCACCCCCTCCCTTTTTTGAGGAAGGGTGACCTCTTCTCTGGGACTGGAAAAAATATTTTTGTGAGGAGGGGGGCGGGTGGCAGCGACAGGGTTTGCTTCTTCTCTTCTTTCATCTCCCTCTCCTCCCCCCTCGAAGACCGAAAAGCAAACCCCACAACTGCTCCAGCAGCATCCTCCTTCCCTTCCTCCGCCTCCCTTCTCCTCCGCCGCTCGCAGTTTCGCCCTCTCTTCCGCTAATGATTGCATTATTATGCTCCCCTCTCTGGGGGGTCTCGCCCCTCTTGGGTCGCTCCGGAGCCCCGGCCTCCCCTGGCTGCATTTCTTAAAAATTTGGGAGCCTGGGAGTGAGTTTTCTCCGAGGCGTGTGTGAGAGGCGGCGGGGGTGTTTTCCTGCGCGAGGGGCGGGTGAAGTTCATTGCCCCCACTTTTCCCGCGACCTTTTTCGGACCCGATTTTGGATCGAGTTGAGGGGGGCGCGGGCGTTTTCGGGGGGCGGGGGGCGCGGCGGAGAATGGCCGCGGGGAGGGCTCCCCGGAGCCTCCCAGTCTCTTGATCAAAGCATTCCGCTATTCTGATTTATTGCTTGCTTGGTGAGTTATTTTTTTTTCCTCTAAAGGAGACCTGTGTGTTCAGCCATTACTTTGCTCGGCGCTGCTCCCAGGCATCTCCGACCCTCGGTGCTGTGGGGAGCCCCACACTTGGGCTCCTCGCCTCTCGCCCTCGCTCCCCGTCCCTCCTCCCCTCTCTCCGCCCCTTCCCCCTTTTCTTTCTCCTCTCTTTCTTCCCCTCTCTCCCTTCTTTCGGCCGCCGTCTCCCCCGCGCCCTCCTCGGGGCGGAGGGAAGCCGTGAAGGGGGAGGGAGGGCTCGGTGTCAATTTTTTTTTGTGTGGCTGCGGCCGTAGCCTGTGGCGGGCAAGCGGGGAGACCCCGGCGCAGCAGAACCTTGGATGGCCCGACGCGGGGCCATGGACTCCGCAAAAAGCGGCGGTCGCGGTCGCAGCGAGACCGGGAGAGGCGCTCCCGGGGCGGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCCGGACCCGGGCGCTCTCACTCGCCTCGTCGTCGGGCTCCGACAAGGAAGACAATGGGAAGCCCCCGTCCTCCGCCCCGTCCCGGCCCAGACCCCCGCGGAGGAAGCGGAGAGAGTCCACCTCGGCAGAAGAGGACATCATTGATGGATTTGCCATGACCAGCTTTGTCACTTTTGAAGCGCTGGAGGTAAGGGGGACCCCCCTTCCCCCGGGTTCCCTTTATGCACGACCCCACTCGGCTGCGCCCGGCTCTCCTGCCTCCCTCGCCGCGCTCCGGGCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTAGGCTGAGGTCTTATTGTTGGTGGGGGGAGCTGGGGGCGCGGGCAGACAGGCAGCAGGAGGGAGTCGCAAAGCCGTGCCTGGTCTCGTTTCCTCGCTCGCCTTTCCCCTGCGCCCCCTCCCTGCACCCCCTCCACAGCAGATGGGCAGAAAGAAAGGGGTTCGGGCATCACAACAATGCGCCCCCTCTCCACAGAGAGCTCTGCCCCCACTCCTTCCTCCTCTCCCTCCCCAATCATGGCTTCTTGGCTGGTGGAAGTCTCTTTGCTGGGTTTGGGGCGCCTGTGGACGGTTCTGTGTGCTTTCTACAGAGTCATATGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTAGTATATACCTTTCCCGGGTGTCCTCGGGACTGGAGACTGATGGGGTTTTGTGATTTCTTTGCGCCTCCCCCCATTACCCCCCCATATTCTTTTTTTTTTTTTTTTTTTGGTGAAGCTGGGGAAGGGGGCGTTTTCTCCTGGTTGGGAGAAAGGAGGGAGGAGGGGAGAGAAGAGGGAAGGGTGGAATAGCTCTCTGTATTCTGTATGGGGTTCTGTTACAGAAAGGGTTAATTATAATATTATCTATACACATACATAGGCACATGTGTGTGTGTACATGAGCAATTTAGTTAAAGGACAGAAAAAGGTACACCAGGGAAGACTGGTGGGAGGGAAGAATAAAATCCTAGCTGCTATCTGAAGGGCTTGTCACCAATTGTCCCTCTCCCTTTCCTTTTTTGTGTTTTCTTTTTTTTCTTTCTAAGTGATTGGCTTTGTGTGTGTCTATGTGTGTGTCTTTCTTTATTCCTTGGGCACCTGCAGCGTTGATTTTCAAATGCACATTTTCCTTCCAGCCAACTGGCTCCTAGGGTAGGGGGAAAGGGAAAAGGGAGGGAGGGGGAGACTGTCCAGGGTTGGGGGGAAACTGTCTTTGCCTGGACCTGTCTCCTTTGGTGTGGTATTGGTCATTGGCCTCTATAAATTTAACCGCCTAATTTCCTCCCCCACCTCCCTGTCCCCACCCCCCACACACCATGCACACACACACAGAAGGCTTTGAGATTCTGCAGAGTTGGTCCACCTTTCTTAAGCACAAAACCAAGATACGGTTTATAGTTGGCTTATAGTGTTTCATGCACCTGATGTGATGGTTTGAGGTTCCTGAAGGAAACTTTTCCCTTTCCATTTTTTTTTTTGCGTTATTATGGTATTGTTTCACATGCTCAGATGCAAGCTTTGTTAATGACAGCTTAAATCTCACATACGGTAACTGTACAGGTTTAGATTGCTGGTTCTGTTTATGTGTTTGGGTGTCAGCTTTAAATATTTTTTTCAAAGGAAGGCTTCCTATCAGTGTTGTCCTTTTCTGTGTGAACTGCTTTTGGTTTGGGCTGCTGGTGGTGATGGTGGTGGATGGTGGCCAGTGGTTGGGAGTAAGGGAGGTATTGGTGGTGGTGGTGGTGGTGCAGGTGGTGGTGATGGTGATGTTGGTGGTATTGGTGGTGGTCGTAGATTTTGATGTTAGTGATTGAATCAGTTACTCTCTGGTTCTAGAATTGGTGCTTTATTGGCCAAAATTTTGAGTGTTGAG
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Task1_train_11247
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Here’s a variant in AUTS2 (activator of transcription and developmental regulator AUTS2) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Autism spectrum disorder due to AUTS2 deficiency
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GGTCGCTCGTCCACGCACTGTGGTGCCACGTGGAGGAAAAGTTTCCAACTCTGCCAGTTGGTGCTCCCACTGCGCCCAGGCGGAGCAAAGGCCCGCGCTTTGGCACCCGCTCCCCGTTCTGTCTCCTCCAGTCGCGCCCCCTCCCAGGGACGCCCCCCTTGTACCCCTTCTCTGAATTCCCTTCTCTCCTCGCAGCGCAGGTAGCCAAGGGAAAACACCCTTGGGGGCTGGTGGGGCTTCCCGAGAAGGCGGCCTCGGGCCGGCCAGGGGTAGAGGATCCAGGGACAAGTGTCCCGAGGAGGATGTGGGGGGCGCGCGCGCGAAGTGGCCTGGGAGCAGGGGCCCACACGCGTCCCCGCTGCGACAGGCGGGATCCTCCGGCGGCTTCCACGCCCTGGCGCGCCAACTCTGCCCGGCCGCGGCCGACCCCACGCGGGCGCCCCCTCCACGCCCCCGCCCCCGCCCCCCTCACAGCTCCCCACCGCCCCCAGTGCGCAGGCCCGGCCGCCCCAGCGCGCATGCCCTGGGCTCGCGAGCGCGGCCAGCCCCCAGCCTTTTGCTTTCTACACACTCTACAACTGGGGAGGGGGCGGGGGAGGAGGGAGCCCAGCCGTCCACGTGATCCCGCCGGCCGGGGCCGCGGGGGCGGGAGCGCGCGCCGAGAGAGGCGCGGGGAGGGCGGGTGCGCGGGAGCGCGCGCACTCGAGCGAGCGAGCGAAAGCACGAACGAGCGAGCGAGCGAGCGAGCGAGCGGGCGGGCGCGGGGTTGGGCTGAGGCGGGCGGCGGCGGCGGCGGCGGCGGTGGGCTGGCCGCGGAGGGGGAGGAGCGGGAGCTGCGCGAGGCAGGCGGGCGGGCGGAGGATGGGGCAGTGCCCGGGCTCCCGCTGCAGCCGCCCGGGGACACGCCGTGCACCCTCCGGCTCGGGGCTTTCTCGGCGGCGGCGGCGGCAGCAGCAGCAGCGTTAGCGGCGGCGGCGAGAGCAGCGTTCCCGGCTGCGCTTCTCCCTCAGGCGGGGCGGCGAGAGAAGCGGCGGCGGCGGCGGCGGCACACCGGTGTCTCTCCCGCTGGAGATTTCTTTCTGCTTTCCTCATCGACTGACTGACTCACCCCCTCCCTTTTTTGAGGAAGGGTGACCTCTTCTCTGGGACTGGAAAAAATATTTTTGTGAGGAGGGGGGCGGGTGGCAGCGACAGGGTTTGCTTCTTCTCTTCTTTCATCTCCCTCTCCTCCCCCCTCGAAGACCGAAAAGCAAACCCCACAACTGCTCCAGCAGCATCCTCCTTCCCTTCCTCCGCCTCCCTTCTCCTCCGCCGCTCGCAGTTTCGCCCTCTCTTCCGCTAATGATTGCATTATTATGCTCCCCTCTCTGGGGGGTCTCGCCCCTCTTGGGTCGCTCCGGAGCCCCGGCCTCCCCTGGCTGCATTTCTTAAAAATTTGGGAGCCTGGGAGTGAGTTTTCTCCGAGGCGTGTGTGAGAGGCGGCGGGGGTGTTTTCCTGCGCGAGGGGCGGGTGAAGTTCATTGCCCCCACTTTTCCCGCGACCTTTTTCGGACCCGATTTTGGATCGAGTTGAGGGGGGCGCGGGCGTTTTCGGGGGGCGGGGGGCGCGGCGGAGAATGGCCGCGGGGAGGGCTCCCCGGAGCCTCCCAGTCTCTTGATCAAAGCATTCCGCTATTCTGATTTATTGCTTGCTTGGTGAGTTATTTTTTTTTCCTCTAAAGGAGACCTGTGTGTTCAGCCATTACTTTGCTCGGCGCTGCTCCCAGGCATCTCCGACCCTCGGTGCTGTGGGGAGCCCCACACTTGGGCTCCTCGCCTCTCGCCCTCGCTCCCCGTCCCTCCTCCCCTCTCTCCGCCCCTTCCCCCTTTTCTTTCTCCTCTCTTTCTTCCCCTCTCTCCCTTCTTTCGGCCGCCGTCTCCCCCGCGCCCTCCTCGGGGCGGAGGGAAGCCGTGAAGGGGGAGGGAGGGCTCGGTGTCAATTTTTTTTTGTGTGGCTGCGGCCGTAGCCTGTGGCGGGCAAGCGGGGAGACCCCGGCGCAGCAGAACCATGGATGGCCCGACGCGGGGCCATGGACTCCGCAAAAAGCGGCGGTCGCGGTCGCAGCGAGACCGGGAGAGGCGCTCCCGGGGCGGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCCGGACCCGGGCGCTCTCACTCGCCTCGTCGTCGGGCTCCGACAAGGAAGACAATGGGAAGCCCCCGTCCTCCGCCCCGTCCCGGCCCAGACCCCCGCGGAGGAAGCGGAGAGAGTCCACCTCGGCAGAAGAGGACATCATTGATGGATTTGCCATGACCAGCTTTGTCACTTTTGAAGCGCTGGAGGTAAGGGGGACCCCCCTTCCCCCGGGTTCCCTTTATGCACGACCCCACTCGGCTGCGCCCGGCTCTCCTGCCTCCCTCGCCGCGCTCCGGGCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTAGGCTGAGGTCTTATTGTTGGTGGGGGGAGCTGGGGGCGCGGGCAGACAGGCAGCAGGAGGGAGTCGCAAAGCCGTGCCTGGTCTCGTTTCCTCGCTCGCCTTTCCCCTGCGCCCCCTCCCTGCACCCCCTCCACAGCAGATGGGCAGAAAGAAAGGGGTTCGGGCATCACAACAATGCGCCCCCTCTCCACAGAGAGCTCTGCCCCCACTCCTTCCTCCTCTCCCTCCCCAATCATGGCTTCTTGGCTGGTGGAAGTCTCTTTGCTGGGTTTGGGGCGCCTGTGGACGGTTCTGTGTGCTTTCTACAGAGTCATATGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTAGTATATACCTTTCCCGGGTGTCCTCGGGACTGGAGACTGATGGGGTTTTGTGATTTCTTTGCGCCTCCCCCCATTACCCCCCCATATTCTTTTTTTTTTTTTTTTTTTGGTGAAGCTGGGGAAGGGGGCGTTTTCTCCTGGTTGGGAGAAAGGAGGGAGGAGGGGAGAGAAGAGGGAAGGGTGGAATAGCTCTCTGTATTCTGTATGGGGTTCTGTTACAGAAAGGGTTAATTATAATATTATCTATACACATACATAGGCACATGTGTGTGTGTACATGAGCAATTTAGTTAAAGGACAGAAAAAGGTACACCAGGGAAGACTGGTGGGAGGGAAGAATAAAATCCTAGCTGCTATCTGAAGGGCTTGTCACCAATTGTCCCTCTCCCTTTCCTTTTTTGTGTTTTCTTTTTTTTCTTTCTAAGTGATTGGCTTTGTGTGTGTCTATGTGTGTGTCTTTCTTTATTCCTTGGGCACCTGCAGCGTTGATTTTCAAATGCACATTTTCCTTCCAGCCAACTGGCTCCTAGGGTAGGGGGAAAGGGAAAAGGGAGGGAGGGGGAGACTGTCCAGGGTTGGGGGGAAACTGTCTTTGCCTGGACCTGTCTCCTTTGGTGTGGTATTGGTCATTGGCCTCTATAAATTTAACCGCCTAATTTCCTCCCCCACCTCCCTGTCCCCACCCCCCACACACCATGCACACACACACAGAAGGCTTTGAGATTCTGCAGAGTTGGTCCACCTTTCTTAAGCACAAAACCAAGATACGGTTTATAGTTGGCTTATAGTGTTTCATGCACCTGATGTGATGGTTTGAGGTTCCTGAAGGAAACTTTTCCCTTTCCATTTTTTTTTTTGCGTTATTATGGTATTGTTTCACATGCTCAGATGCAAGCTTTGTTAATGACAGCTTAAATCTCACATACGGTAACTGTACAGGTTTAGATTGCTGGTTCTGTTTATGTGTTTGGGTGTCAGCTTTAAATATTTTTTTCAAAGGAAGGCTTCCTATCAGTGTTGTCCTTTTCTGTGTGAACTGCTTTTGGTTTGGGCTGCTGGTGGTGATGGTGGTGGATGGTGGCCAGTGGTTGGGAGTAAGGGAGGTATTGGTGGTGGTGGTGGTGGTGCAGGTGGTGGTGATGGTGATGTTGGTGGTATTGGTGGTGGTCGTAGATTTTGATGTTAGTGATTGAATCAGTTACTCTCTGGTTCTAGAATTGGTGCTTTATTGGCCAAAATTTTGAGTGTTGAGG
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GGTCGCTCGTCCACGCACTGTGGTGCCACGTGGAGGAAAAGTTTCCAACTCTGCCAGTTGGTGCTCCCACTGCGCCCAGGCGGAGCAAAGGCCCGCGCTTTGGCACCCGCTCCCCGTTCTGTCTCCTCCAGTCGCGCCCCCTCCCAGGGACGCCCCCCTTGTACCCCTTCTCTGAATTCCCTTCTCTCCTCGCAGCGCAGGTAGCCAAGGGAAAACACCCTTGGGGGCTGGTGGGGCTTCCCGAGAAGGCGGCCTCGGGCCGGCCAGGGGTAGAGGATCCAGGGACAAGTGTCCCGAGGAGGATGTGGGGGGCGCGCGCGCGAAGTGGCCTGGGAGCAGGGGCCCACACGCGTCCCCGCTGCGACAGGCGGGATCCTCCGGCGGCTTCCACGCCCTGGCGCGCCAACTCTGCCCGGCCGCGGCCGACCCCACGCGGGCGCCCCCTCCACGCCCCCGCCCCCGCCCCCCTCACAGCTCCCCACCGCCCCCAGTGCGCAGGCCCGGCCGCCCCAGCGCGCATGCCCTGGGCTCGCGAGCGCGGCCAGCCCCCAGCCTTTTGCTTTCTACACACTCTACAACTGGGGAGGGGGCGGGGGAGGAGGGAGCCCAGCCGTCCACGTGATCCCGCCGGCCGGGGCCGCGGGGGCGGGAGCGCGCGCCGAGAGAGGCGCGGGGAGGGCGGGTGCGCGGGAGCGCGCGCACTCGAGCGAGCGAGCGAAAGCACGAACGAGCGAGCGAGCGAGCGAGCGAGCGGGCGGGCGCGGGGTTGGGCTGAGGCGGGCGGCGGCGGCGGCGGCGGCGGTGGGCTGGCCGCGGAGGGGGAGGAGCGGGAGCTGCGCGAGGCAGGCGGGCGGGCGGAGGATGGGGCAGTGCCCGGGCTCCCGCTGCAGCCGCCCGGGGACACGCCGTGCACCCTCCGGCTCGGGGCTTTCTCGGCGGCGGCGGCGGCAGCAGCAGCAGCGTTAGCGGCGGCGGCGAGAGCAGCGTTCCCGGCTGCGCTTCTCCCTCAGGCGGGGCGGCGAGAGAAGCGGCGGCGGCGGCGGCGGCACACCGGTGTCTCTCCCGCTGGAGATTTCTTTCTGCTTTCCTCATCGACTGACTGACTCACCCCCTCCCTTTTTTGAGGAAGGGTGACCTCTTCTCTGGGACTGGAAAAAATATTTTTGTGAGGAGGGGGGCGGGTGGCAGCGACAGGGTTTGCTTCTTCTCTTCTTTCATCTCCCTCTCCTCCCCCCTCGAAGACCGAAAAGCAAACCCCACAACTGCTCCAGCAGCATCCTCCTTCCCTTCCTCCGCCTCCCTTCTCCTCCGCCGCTCGCAGTTTCGCCCTCTCTTCCGCTAATGATTGCATTATTATGCTCCCCTCTCTGGGGGGTCTCGCCCCTCTTGGGTCGCTCCGGAGCCCCGGCCTCCCCTGGCTGCATTTCTTAAAAATTTGGGAGCCTGGGAGTGAGTTTTCTCCGAGGCGTGTGTGAGAGGCGGCGGGGGTGTTTTCCTGCGCGAGGGGCGGGTGAAGTTCATTGCCCCCACTTTTCCCGCGACCTTTTTCGGACCCGATTTTGGATCGAGTTGAGGGGGGCGCGGGCGTTTTCGGGGGGCGGGGGGCGCGGCGGAGAATGGCCGCGGGGAGGGCTCCCCGGAGCCTCCCAGTCTCTTGATCAAAGCATTCCGCTATTCTGATTTATTGCTTGCTTGGTGAGTTATTTTTTTTTCCTCTAAAGGAGACCTGTGTGTTCAGCCATTACTTTGCTCGGCGCTGCTCCCAGGCATCTCCGACCCTCGGTGCTGTGGGGAGCCCCACACTTGGGCTCCTCGCCTCTCGCCCTCGCTCCCCGTCCCTCCTCCCCTCTCTCCGCCCCTTCCCCCTTTTCTTTCTCCTCTCTTTCTTCCCCTCTCTCCCTTCTTTCGGCCGCCGTCTCCCCCGCGCCCTCCTCGGGGCGGAGGGAAGCCGTGAAGGGGGAGGGAGGGCTCGGTGTCAATTTTTTTTTGTGTGGCTGCGGCCGTAGCCTGTGGCGGGCAAGCGGGGAGACCCCGGCGCAGCAGAACCACGGATGGCCCGACGCGGGGCCATGGACTCCGCAAAAAGCGGCGGTCGCGGTCGCAGCGAGACCGGGAGAGGCGCTCCCGGGGCGGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCCGGACCCGGGCGCTCTCACTCGCCTCGTCGTCGGGCTCCGACAAGGAAGACAATGGGAAGCCCCCGTCCTCCGCCCCGTCCCGGCCCAGACCCCCGCGGAGGAAGCGGAGAGAGTCCACCTCGGCAGAAGAGGACATCATTGATGGATTTGCCATGACCAGCTTTGTCACTTTTGAAGCGCTGGAGGTAAGGGGGACCCCCCTTCCCCCGGGTTCCCTTTATGCACGACCCCACTCGGCTGCGCCCGGCTCTCCTGCCTCCCTCGCCGCGCTCCGGGCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTAGGCTGAGGTCTTATTGTTGGTGGGGGGAGCTGGGGGCGCGGGCAGACAGGCAGCAGGAGGGAGTCGCAAAGCCGTGCCTGGTCTCGTTTCCTCGCTCGCCTTTCCCCTGCGCCCCCTCCCTGCACCCCCTCCACAGCAGATGGGCAGAAAGAAAGGGGTTCGGGCATCACAACAATGCGCCCCCTCTCCACAGAGAGCTCTGCCCCCACTCCTTCCTCCTCTCCCTCCCCAATCATGGCTTCTTGGCTGGTGGAAGTCTCTTTGCTGGGTTTGGGGCGCCTGTGGACGGTTCTGTGTGCTTTCTACAGAGTCATATGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTAGTATATACCTTTCCCGGGTGTCCTCGGGACTGGAGACTGATGGGGTTTTGTGATTTCTTTGCGCCTCCCCCCATTACCCCCCCATATTCTTTTTTTTTTTTTTTTTTTGGTGAAGCTGGGGAAGGGGGCGTTTTCTCCTGGTTGGGAGAAAGGAGGGAGGAGGGGAGAGAAGAGGGAAGGGTGGAATAGCTCTCTGTATTCTGTATGGGGTTCTGTTACAGAAAGGGTTAATTATAATATTATCTATACACATACATAGGCACATGTGTGTGTGTACATGAGCAATTTAGTTAAAGGACAGAAAAAGGTACACCAGGGAAGACTGGTGGGAGGGAAGAATAAAATCCTAGCTGCTATCTGAAGGGCTTGTCACCAATTGTCCCTCTCCCTTTCCTTTTTTGTGTTTTCTTTTTTTTCTTTCTAAGTGATTGGCTTTGTGTGTGTCTATGTGTGTGTCTTTCTTTATTCCTTGGGCACCTGCAGCGTTGATTTTCAAATGCACATTTTCCTTCCAGCCAACTGGCTCCTAGGGTAGGGGGAAAGGGAAAAGGGAGGGAGGGGGAGACTGTCCAGGGTTGGGGGGAAACTGTCTTTGCCTGGACCTGTCTCCTTTGGTGTGGTATTGGTCATTGGCCTCTATAAATTTAACCGCCTAATTTCCTCCCCCACCTCCCTGTCCCCACCCCCCACACACCATGCACACACACACAGAAGGCTTTGAGATTCTGCAGAGTTGGTCCACCTTTCTTAAGCACAAAACCAAGATACGGTTTATAGTTGGCTTATAGTGTTTCATGCACCTGATGTGATGGTTTGAGGTTCCTGAAGGAAACTTTTCCCTTTCCATTTTTTTTTTTGCGTTATTATGGTATTGTTTCACATGCTCAGATGCAAGCTTTGTTAATGACAGCTTAAATCTCACATACGGTAACTGTACAGGTTTAGATTGCTGGTTCTGTTTATGTGTTTGGGTGTCAGCTTTAAATATTTTTTTCAAAGGAAGGCTTCCTATCAGTGTTGTCCTTTTCTGTGTGAACTGCTTTTGGTTTGGGCTGCTGGTGGTGATGGTGGTGGATGGTGGCCAGTGGTTGGGAGTAAGGGAGGTATTGGTGGTGGTGGTGGTGGTGCAGGTGGTGGTGATGGTGATGTTGGTGGTATTGGTGGTGGTCGTAGATTTTGATGTTAGTGATTGAATCAGTTACTCTCTGGTTCTAGAATTGGTGCTTTATTGGCCAAAATTTTGAGTGTTGAGG
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Task1_train_11248
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Here’s a variant in DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Leber-like hereditary optic neuropathy, autosomal recessive 1
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CCTGGCTTTGTTTAGACCCTAGACTTGGGCCCTCATCCTTCTCGTAGACCTCTTGCGAGGATTTTCCCCTTTTACAGATTCACACTCAGTCCCGAACAGAAACACTTGAGCACCTACAATCTCACAGCCAACTCCCTGCCAACGTCCAGTGACTCACAGTTAAGAGAGCTTCAGCAGCAGCTCTGACCAAAGTGATGACCAACTACTTAACATGAATTAGAAACAGAGCAGAAAAAACACGCCTTTAGCCTGCTCTGCGTAAAGAACCAAGTCTCCACCATGAACACCAAGCCACCAACTCCCCGTCCCTCAGTAGTCCTGTGTACTCCCAAAGCCCCAAAATTTACCCCAGCCTCAAGCAGCCTTGTTTAAAAAATTAAGGAAGGGCCTGTGATAAGCACTGCAAGTTAAACAGAAACAGGGGACTTAAGTGCAGAGTTTGTCACTCTATTTCTGGGAGGGGATGGGCTGCACAGTGTGCAATGGGGCTGGCTGGTAAAGGGAGGACCAGGTGACAGCCAGCCACACTGTCTCAAGGATGAACCTGGCCCTGCTAGCATTATGCTGTAATCCCTGTGGATTAGAACTATGGATAATAGGGCCGGGAGCAGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCTGGACGGGCAGACAGCCTGAGGTCGGCAGTTCGAGACCTCAGTCTGGCCAGCATGGTGAAACCCCGTATCTACTAAAAATACAAAACACTAGCCAGGTGTGGTGGGAGCCTGTAATCCCAGTTACACAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCGCAAGACTCCATCTCAAAAACAAAACAAAACAAAAAACCCCCCAAAAACTATGGATAATAAAGCATGACAGACCTCAAGATGCCAAATGATTTTCTCCTCTGCTGTCATGCCTACAGAGTAACTTCTCCAAGGTCACACATTAAATATGGGCACAGGAACACTCATTCCTTATGCTCAATGACTTTTTCTCACTCCTACATGCTATCAACATAAGGAGGAGTGCCCCAGGGGGCTGACCTTAGCGGGAGGAACGACAGGCTCTCCACCGATCCCATTCTTACCCTGGACCAGGTCTCACCTGCGGCTTGGGGAAGTCACAGAAAGACAAGTTTCGTACAACCCCAGACCTTTTCTTTTGGTAGTCAACAATTGGTCACATTGCACATTTCAAGGTTACAGAGGCCCACCATACACATGCGGGGCAGGAGGAGATAAATCTTGCTTGGGGCTAAACAATAAAGCTACAGCGAGTGTTCCAGAAGTTGACCACATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCACTCCTGGGCTTTCGGGACTCTACAGCGTGGGGCCTCTTTCTCAGACATCGAAAGGCCTCCTTTTCTGGACCACAGTGGAGCGATGTGCAGGTCATCGGCTAAGCTGGGCGGGTCGGGGAGGGCAGGGGGAGTACAGTTCCTTCGGATCCCAGCAAAGGTAGACTATCAATGGCCAAGGGTTCAGAGGCAGGAAAAAAGGCCGTTTCTGGGGGGTTGGCTGGGGACACTCCCCTTCCCTTCTCTCTCCGATTAAATATAAAAGCCGATGATGATGAAGATTGAAAAGATGAGGAAAATGGCAGCCGTGTCTCGGGTATCCTCCCAGCGGAGGCCTTTCATGGACCGATACTCCTGCCGTTTGCGAAGGGCCTCCCGCCGGGCCCTCAGGCGCCGTTCCCGCTCCAGTTGTTCCCCGTAGTGGGCCTGGTAGAAGGCGTCAAAGTTGAACATCGTGCGGTTGGCGCCGGGGGAGGCCCGAGAACCGTCGTGGGTCCGAGAGGTGGGCGGCGGGGTACGCGGCGAGCCGGGGTCGGGTGCGGGCGTCCTGGAGGGCCGGACGCCAGGTCCGCGCAGGTCCTCGTCGCTGAGTAGGCCGCGATCATACTTGCGACGGAGGGTGGCACTGCCCAGCACCACGTAGGCCTGGGAGATGCGCGTGAAGCGCTCGGCGGCCTCCGCGCTCCCGGAGTTGCGGTCCGGGTGGTAGAGAAAGCACTGACGGTAGTAAGCCGCCTTGATTTGGGCCTGCGTGGCTGTGGAGGGGACGCCGAGCAGATCATACAGCGCCGTGCGCGAATACGAGCAGTCGCCCTGGGAATAAGTCCTCGCTCCTAGGCCCAGGCTGGGTGCAGAATTTTGTGGAAAGCCACGGGCCTGCAGCAACCTCCAAGGTAACAGCCGCTGCCACCATCGCCAGCGCATGGCTGCCATGTTGAATTGATTCGGCAGGCGGTGCAAGAGAAACCGGCCAATGAGAGGAGTCGGTTGGTCGCCCTGTGGCCAGTCACGTAAAGGGGGGGGCGGGGCGGTCGTGGGGGTGGAACATGCGTATTACTAAGCGGTCGCCGGGCTGATGACATAAAAACCGGGTGCCGGCAGGCGCCAGTCGCAGGTGTGCTGCTGAGGCGTGAGAATGGCGTCCCGCGGCCGGCGTCCGGAGCATGGCGGACCCCCAGAGCTGGTAAGTCCCGGGGCCCGCGGACACCCCTCTCCCCACTTCTGCGGCCACCGCGTCTGAATTATTCCTCTACATGCCATTTTCTCTTTTTCGCAGTTTTATGACGAGACAGAAGCCCGGAAATACGTTCGCAAGTGAGGGGAGCCTGAATACTGCGGGGCGTCCGGGGGTCGGGAAGCGGCAAGTTGCCCCTGTTGCTGGCGTTGCCCGGAAAGGCCGTAGAATTTGGGGGTGCGGGAAGGGAAGGACCCGGGTGGGTGCCGATTTCTGTCTCTGGTAAATCAACTTTAAGTTGCCGACCTCTCTGGGCCTCGGTACCTCAGCGTTGAGGTAGGGGTGATCGCGCTTGCTTTCCGTGGGTGGTTTTCAAAGTCGAATGTGACAATTTGTCCTAAACATGTGGTAAAAGAGGCGCTGGGCGGTGGGTACGGGCGAGGGGTCAGTCCTGGTGGGGGGAAGGAAGTAATGGCCGTAGGATGCTTATCGTGGCGCCTTGTTGCCAATAAATCTCCAAGACAGCAGTTGGTGTATTATTGTCTGAATTTCATAGAGGGTAGTTTGTATAACTACTGAGTTGTAGCCAGGTGGGAGTGGCTCACGCGTGTAATCTCAGCAATCGCAGCACTTTGGGAGGCTGAGGCGGGAGGATCGCTTGAGCTCAGGGGTTCGAGACCAGCCTGGGCAACGTAGCGAGCCCCCGTCTCCGCAAGTAATAAAAAAATTAGCCGGGTGTGGTGGCTCCCCTCTGCCTCTCCAGTAGTTGGGACCACAGGCGCGCGCCACTACGCCTGGCTTTTTTTTGTAAATTTTTGTTGCGATGGGGTCTCGCTGTGTTGCCCAAGGTGGCCCAAGCCCAGGGCTCAAGCGATCCTCCCGCCTTCGTCTCCCGAACTGTTGGGATTGCAGGCGTGAGCCAGCGCACCTCGAGTCGTTAAAAAAAAAAAAAAGGGGGGGGGATGGGGGCGGGGGGAAGCTGGCGCGGTGTCTCACGCCTGTAATCGCAACACTTTGGGAGGCTGAGGCAGACGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACTCCAGCTCTACTAAAAATGGAAAAAATTAGCCGGGCGCGATGGCGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGGGGAGGTTGCAGTGAGCCGACATCACGGCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACTTTGTGGTTTTTCCGTGCTCTCTCACTGAGAGACTAGCCCTATTTCAGTAAATGGTTACTGGCCGGGCGCTATGGCTCATACCAGTAATCCCAGCCCTGTGGGAGGCGGAGGTGGACGGATCACCTGAGGTCAGGAATTCCGAGACCAACCTGGCCAGCATGGTGAAATCCCGTCTCTACTGAAAATACAGATATTAGCCGGGCC
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CCTGGCTTTGTTTAGACCCTAGACTTGGGCCCTCATCCTTCTCGTAGACCTCTTGCGAGGATTTTCCCCTTTTACAGATTCACACTCAGTCCCGAACAGAAACACTTGAGCACCTACAATCTCACAGCCAACTCCCTGCCAACGTCCAGTGACTCACAGTTAAGAGAGCTTCAGCAGCAGCTCTGACCAAAGTGATGACCAACTACTTAACATGAATTAGAAACAGAGCAGAAAAAACACGCCTTTAGCCTGCTCTGCGTAAAGAACCAAGTCTCCACCATGAACACCAAGCCACCAACTCCCCGTCCCTCAGTAGTCCTGTGTACTCCCAAAGCCCCAAAATTTACCCCAGCCTCAAGCAGCCTTGTTTAAAAAATTAAGGAAGGGCCTGTGATAAGCACTGCAAGTTAAACAGAAACAGGGGACTTAAGTGCAGAGTTTGTCACTCTATTTCTGGGAGGGGATGGGCTGCACAGTGTGCAATGGGGCTGGCTGGTAAAGGGAGGACCAGGTGACAGCCAGCCACACTGTCTCAAGGATGAACCTGGCCCTGCTAGCATTATGCTGTAATCCCTGTGGATTAGAACTATGGATAATAGGGCCGGGAGCAGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCTGGACGGGCAGACAGCCTGAGGTCGGCAGTTCGAGACCTCAGTCTGGCCAGCATGGTGAAACCCCGTATCTACTAAAAATACAAAACACTAGCCAGGTGTGGTGGGAGCCTGTAATCCCAGTTACACAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCGCAAGACTCCATCTCAAAAACAAAACAAAACAAAAAACCCCCCAAAAACTATGGATAATAAAGCATGACAGACCTCAAGATGCCAAATGATTTTCTCCTCTGCTGTCATGCCTACAGAGTAACTTCTCCAAGGTCACACATTAAATATGGGCACAGGAACACTCATTCCTTATGCTCAATGACTTTTTCTCACTCCTACATGCTATCAACATAAGGAGGAGTGCCCCAGGGGGCTGACCTTAGCGGGAGGAACGACAGGCTCTCCACCGATCCCATTCTTACCCTGGACCAGGTCTCACCTGCGGCTTGGGGAAGTCACAGAAAGACAAGTTTCGTACAACCCCAGACCTTTTCTTTTGGTAGTCAACAATTGGTCACATTGCACATTTCAAGGTTACAGAGGCCCACCATACACATGCGGGGCAGGAGGAGATAAATCTTGCTTGGGGCTAAACAATAAAGCTACAGCGAGTGTTCCAGAAGTTGACCACATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCACTCCTGGGCTTTCGGGACTCTACAGCGTGGGGCCTCTTTCTCAGACATCGAAAGGCCTCCTTTTCTGGACCACAGTGGAGCGATGTGCAGGTCATCGGCTAAGCTGGGCGGGTCGGGGAGGGCAGGGGGAGTACAGTTCCTTCGGATCCCAGCAAAGGTAGACTATCAATGGCCAAGGGTTCAGAGGCAGGAAAAAAGGCCGTTTCTGGGGGGTTGGCTGGGGACACTCCCCTTCCCTTCTCTCTCCGATTAAATATAAAAGCCGATGATGATGAAGATTGAAAAGATGAGGAAAATGGCAGCCGTGTCTCGGGTATCCTCCCAGCGGAGGCCTTTCATGGACCGATACTCCTGCCGTTTGCGAAGGGCCTCCCGCCGGGCCCTCAGGCGCCGTTCCCGCTCCAGTTGTTCCCCGTAGTGGGCCTGGTAGAAGGCGTCAAAGTTGAACATCGTGCGGTTGGCGCCGGGGGAGGCCCGAGAACCGTCGTGGGTCCGAGAGGTGGGCGGCGGGGTACGCGGCGAGCCGGGGTCGGGTGCGGGCGTCCTGGAGGGCCGGACGCCAGGTCCGCGCAGGTCCTCGTCGCTGAGTAGGCCGCGATCATACTTGCGACGGAGGGTGGCACTGCCCTGCACCACGTAGGCCTGGGAGATGCGCGTGAAGCGCTCGGCGGCCTCCGCGCTCCCGGAGTTGCGGTCCGGGTGGTAGAGAAAGCACTGACGGTAGTAAGCCGCCTTGATTTGGGCCTGCGTGGCTGTGGAGGGGACGCCGAGCAGATCATACAGCGCCGTGCGCGAATACGAGCAGTCGCCCTGGGAATAAGTCCTCGCTCCTAGGCCCAGGCTGGGTGCAGAATTTTGTGGAAAGCCACGGGCCTGCAGCAACCTCCAAGGTAACAGCCGCTGCCACCATCGCCAGCGCATGGCTGCCATGTTGAATTGATTCGGCAGGCGGTGCAAGAGAAACCGGCCAATGAGAGGAGTCGGTTGGTCGCCCTGTGGCCAGTCACGTAAAGGGGGGGGCGGGGCGGTCGTGGGGGTGGAACATGCGTATTACTAAGCGGTCGCCGGGCTGATGACATAAAAACCGGGTGCCGGCAGGCGCCAGTCGCAGGTGTGCTGCTGAGGCGTGAGAATGGCGTCCCGCGGCCGGCGTCCGGAGCATGGCGGACCCCCAGAGCTGGTAAGTCCCGGGGCCCGCGGACACCCCTCTCCCCACTTCTGCGGCCACCGCGTCTGAATTATTCCTCTACATGCCATTTTCTCTTTTTCGCAGTTTTATGACGAGACAGAAGCCCGGAAATACGTTCGCAAGTGAGGGGAGCCTGAATACTGCGGGGCGTCCGGGGGTCGGGAAGCGGCAAGTTGCCCCTGTTGCTGGCGTTGCCCGGAAAGGCCGTAGAATTTGGGGGTGCGGGAAGGGAAGGACCCGGGTGGGTGCCGATTTCTGTCTCTGGTAAATCAACTTTAAGTTGCCGACCTCTCTGGGCCTCGGTACCTCAGCGTTGAGGTAGGGGTGATCGCGCTTGCTTTCCGTGGGTGGTTTTCAAAGTCGAATGTGACAATTTGTCCTAAACATGTGGTAAAAGAGGCGCTGGGCGGTGGGTACGGGCGAGGGGTCAGTCCTGGTGGGGGGAAGGAAGTAATGGCCGTAGGATGCTTATCGTGGCGCCTTGTTGCCAATAAATCTCCAAGACAGCAGTTGGTGTATTATTGTCTGAATTTCATAGAGGGTAGTTTGTATAACTACTGAGTTGTAGCCAGGTGGGAGTGGCTCACGCGTGTAATCTCAGCAATCGCAGCACTTTGGGAGGCTGAGGCGGGAGGATCGCTTGAGCTCAGGGGTTCGAGACCAGCCTGGGCAACGTAGCGAGCCCCCGTCTCCGCAAGTAATAAAAAAATTAGCCGGGTGTGGTGGCTCCCCTCTGCCTCTCCAGTAGTTGGGACCACAGGCGCGCGCCACTACGCCTGGCTTTTTTTTGTAAATTTTTGTTGCGATGGGGTCTCGCTGTGTTGCCCAAGGTGGCCCAAGCCCAGGGCTCAAGCGATCCTCCCGCCTTCGTCTCCCGAACTGTTGGGATTGCAGGCGTGAGCCAGCGCACCTCGAGTCGTTAAAAAAAAAAAAAAGGGGGGGGGATGGGGGCGGGGGGAAGCTGGCGCGGTGTCTCACGCCTGTAATCGCAACACTTTGGGAGGCTGAGGCAGACGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACTCCAGCTCTACTAAAAATGGAAAAAATTAGCCGGGCGCGATGGCGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGGGGAGGTTGCAGTGAGCCGACATCACGGCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACTTTGTGGTTTTTCCGTGCTCTCTCACTGAGAGACTAGCCCTATTTCAGTAAATGGTTACTGGCCGGGCGCTATGGCTCATACCAGTAATCCCAGCCCTGTGGGAGGCGGAGGTGGACGGATCACCTGAGGTCAGGAATTCCGAGACCAACCTGGCCAGCATGGTGAAATCCCGTCTCTACTGAAAATACAGATATTAGCCGGGCC
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Task1_train_11249
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A mutation on Chromosome 7 affecting DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Leber-like hereditary optic neuropathy, autosomal recessive 1
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TTTACAGATTCACACTCAGTCCCGAACAGAAACACTTGAGCACCTACAATCTCACAGCCAACTCCCTGCCAACGTCCAGTGACTCACAGTTAAGAGAGCTTCAGCAGCAGCTCTGACCAAAGTGATGACCAACTACTTAACATGAATTAGAAACAGAGCAGAAAAAACACGCCTTTAGCCTGCTCTGCGTAAAGAACCAAGTCTCCACCATGAACACCAAGCCACCAACTCCCCGTCCCTCAGTAGTCCTGTGTACTCCCAAAGCCCCAAAATTTACCCCAGCCTCAAGCAGCCTTGTTTAAAAAATTAAGGAAGGGCCTGTGATAAGCACTGCAAGTTAAACAGAAACAGGGGACTTAAGTGCAGAGTTTGTCACTCTATTTCTGGGAGGGGATGGGCTGCACAGTGTGCAATGGGGCTGGCTGGTAAAGGGAGGACCAGGTGACAGCCAGCCACACTGTCTCAAGGATGAACCTGGCCCTGCTAGCATTATGCTGTAATCCCTGTGGATTAGAACTATGGATAATAGGGCCGGGAGCAGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCTGGACGGGCAGACAGCCTGAGGTCGGCAGTTCGAGACCTCAGTCTGGCCAGCATGGTGAAACCCCGTATCTACTAAAAATACAAAACACTAGCCAGGTGTGGTGGGAGCCTGTAATCCCAGTTACACAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCGCAAGACTCCATCTCAAAAACAAAACAAAACAAAAAACCCCCCAAAAACTATGGATAATAAAGCATGACAGACCTCAAGATGCCAAATGATTTTCTCCTCTGCTGTCATGCCTACAGAGTAACTTCTCCAAGGTCACACATTAAATATGGGCACAGGAACACTCATTCCTTATGCTCAATGACTTTTTCTCACTCCTACATGCTATCAACATAAGGAGGAGTGCCCCAGGGGGCTGACCTTAGCGGGAGGAACGACAGGCTCTCCACCGATCCCATTCTTACCCTGGACCAGGTCTCACCTGCGGCTTGGGGAAGTCACAGAAAGACAAGTTTCGTACAACCCCAGACCTTTTCTTTTGGTAGTCAACAATTGGTCACATTGCACATTTCAAGGTTACAGAGGCCCACCATACACATGCGGGGCAGGAGGAGATAAATCTTGCTTGGGGCTAAACAATAAAGCTACAGCGAGTGTTCCAGAAGTTGACCACATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCACTCCTGGGCTTTCGGGACTCTACAGCGTGGGGCCTCTTTCTCAGACATCGAAAGGCCTCCTTTTCTGGACCACAGTGGAGCGATGTGCAGGTCATCGGCTAAGCTGGGCGGGTCGGGGAGGGCAGGGGGAGTACAGTTCCTTCGGATCCCAGCAAAGGTAGACTATCAATGGCCAAGGGTTCAGAGGCAGGAAAAAAGGCCGTTTCTGGGGGGTTGGCTGGGGACACTCCCCTTCCCTTCTCTCTCCGATTAAATATAAAAGCCGATGATGATGAAGATTGAAAAGATGAGGAAAATGGCAGCCGTGTCTCGGGTATCCTCCCAGCGGAGGCCTTTCATGGACCGATACTCCTGCCGTTTGCGAAGGGCCTCCCGCCGGGCCCTCAGGCGCCGTTCCCGCTCCAGTTGTTCCCCGTAGTGGGCCTGGTAGAAGGCGTCAAAGTTGAACATCGTGCGGTTGGCGCCGGGGGAGGCCCGAGAACCGTCGTGGGTCCGAGAGGTGGGCGGCGGGGTACGCGGCGAGCCGGGGTCGGGTGCGGGCGTCCTGGAGGGCCGGACGCCAGGTCCGCGCAGGTCCTCGTCGCTGAGTAGGCCGCGATCATACTTGCGACGGAGGGTGGCACTGCCCAGCACCACGTAGGCCTGGGAGATGCGCGTGAAGCGCTCGGCGGCCTCCGCGCTCCCGGAGTTGCGGTCCGGGTGGTAGAGAAAGCACTGACGGTAGTAAGCCGCCTTGATTTGGGCCTGCGTGGCTGTGGAGGGGACGCCGAGCAGATCATACAGCGCCGTGCGCGAATACGAGCAGTCGCCCTGGGAATAAGTCCTCGCTCCTAGGCCCAGGCTGGGTGCAGAATTTTGTGGAAAGCCACGGGCCTGCAGCAACCTCCAAGGTAACAGCCGCTGCCACCATCGCCAGCGCATGGCTGCCATGTTGAATTGATTCGGCAGGCGGTGCAAGAGAAACCGGCCAATGAGAGGAGTCGGTTGGTCGCCCTGTGGCCAGTCACGTAAAGGGGGGGGCGGGGCGGTCGTGGGGGTGGAACATGCGTATTACTAAGCGGTCGCCGGGCTGATGACATAAAAACCGGGTGCCGGCAGGCGCCAGTCGCAGGTGTGCTGCTGAGGCGTGAGAATGGCGTCCCGCGGCCGGCGTCCGGAGCATGGCGGACCCCCAGAGCTGGTAAGTCCCGGGGCCCGCGGACACCCCTCTCCCCACTTCTGCGGCCACCGCGTCTGAATTATTCCTCTACATGCCATTTTCTCTTTTTCGCAGTTTTATGACGAGACAGAAGCCCGGAAATACGTTCGCAAGTGAGGGGAGCCTGAATACTGCGGGGCGTCCGGGGGTCGGGAAGCGGCAAGTTGCCCCTGTTGCTGGCGTTGCCCGGAAAGGCCGTAGAATTTGGGGGTGCGGGAAGGGAAGGACCCGGGTGGGTGCCGATTTCTGTCTCTGGTAAATCAACTTTAAGTTGCCGACCTCTCTGGGCCTCGGTACCTCAGCGTTGAGGTAGGGGTGATCGCGCTTGCTTTCCGTGGGTGGTTTTCAAAGTCGAATGTGACAATTTGTCCTAAACATGTGGTAAAAGAGGCGCTGGGCGGTGGGTACGGGCGAGGGGTCAGTCCTGGTGGGGGGAAGGAAGTAATGGCCGTAGGATGCTTATCGTGGCGCCTTGTTGCCAATAAATCTCCAAGACAGCAGTTGGTGTATTATTGTCTGAATTTCATAGAGGGTAGTTTGTATAACTACTGAGTTGTAGCCAGGTGGGAGTGGCTCACGCGTGTAATCTCAGCAATCGCAGCACTTTGGGAGGCTGAGGCGGGAGGATCGCTTGAGCTCAGGGGTTCGAGACCAGCCTGGGCAACGTAGCGAGCCCCCGTCTCCGCAAGTAATAAAAAAATTAGCCGGGTGTGGTGGCTCCCCTCTGCCTCTCCAGTAGTTGGGACCACAGGCGCGCGCCACTACGCCTGGCTTTTTTTTGTAAATTTTTGTTGCGATGGGGTCTCGCTGTGTTGCCCAAGGTGGCCCAAGCCCAGGGCTCAAGCGATCCTCCCGCCTTCGTCTCCCGAACTGTTGGGATTGCAGGCGTGAGCCAGCGCACCTCGAGTCGTTAAAAAAAAAAAAAAGGGGGGGGGATGGGGGCGGGGGGAAGCTGGCGCGGTGTCTCACGCCTGTAATCGCAACACTTTGGGAGGCTGAGGCAGACGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACTCCAGCTCTACTAAAAATGGAAAAAATTAGCCGGGCGCGATGGCGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGGGGAGGTTGCAGTGAGCCGACATCACGGCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACTTTGTGGTTTTTCCGTGCTCTCTCACTGAGAGACTAGCCCTATTTCAGTAAATGGTTACTGGCCGGGCGCTATGGCTCATACCAGTAATCCCAGCCCTGTGGGAGGCGGAGGTGGACGGATCACCTGAGGTCAGGAATTCCGAGACCAACCTGGCCAGCATGGTGAAATCCCGTCTCTACTGAAAATACAGATATTAGCCGGGCCTACGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGAGAGGCAGAGGTTGCAGTGAGCTGCGATCGCACC
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TTTACAGATTCACACTCAGTCCCGAACAGAAACACTTGAGCACCTACAATCTCACAGCCAACTCCCTGCCAACGTCCAGTGACTCACAGTTAAGAGAGCTTCAGCAGCAGCTCTGACCAAAGTGATGACCAACTACTTAACATGAATTAGAAACAGAGCAGAAAAAACACGCCTTTAGCCTGCTCTGCGTAAAGAACCAAGTCTCCACCATGAACACCAAGCCACCAACTCCCCGTCCCTCAGTAGTCCTGTGTACTCCCAAAGCCCCAAAATTTACCCCAGCCTCAAGCAGCCTTGTTTAAAAAATTAAGGAAGGGCCTGTGATAAGCACTGCAAGTTAAACAGAAACAGGGGACTTAAGTGCAGAGTTTGTCACTCTATTTCTGGGAGGGGATGGGCTGCACAGTGTGCAATGGGGCTGGCTGGTAAAGGGAGGACCAGGTGACAGCCAGCCACACTGTCTCAAGGATGAACCTGGCCCTGCTAGCATTATGCTGTAATCCCTGTGGATTAGAACTATGGATAATAGGGCCGGGAGCAGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCTGGACGGGCAGACAGCCTGAGGTCGGCAGTTCGAGACCTCAGTCTGGCCAGCATGGTGAAACCCCGTATCTACTAAAAATACAAAACACTAGCCAGGTGTGGTGGGAGCCTGTAATCCCAGTTACACAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCGCAAGACTCCATCTCAAAAACAAAACAAAACAAAAAACCCCCCAAAAACTATGGATAATAAAGCATGACAGACCTCAAGATGCCAAATGATTTTCTCCTCTGCTGTCATGCCTACAGAGTAACTTCTCCAAGGTCACACATTAAATATGGGCACAGGAACACTCATTCCTTATGCTCAATGACTTTTTCTCACTCCTACATGCTATCAACATAAGGAGGAGTGCCCCAGGGGGCTGACCTTAGCGGGAGGAACGACAGGCTCTCCACCGATCCCATTCTTACCCTGGACCAGGTCTCACCTGCGGCTTGGGGAAGTCACAGAAAGACAAGTTTCGTACAACCCCAGACCTTTTCTTTTGGTAGTCAACAATTGGTCACATTGCACATTTCAAGGTTACAGAGGCCCACCATACACATGCGGGGCAGGAGGAGATAAATCTTGCTTGGGGCTAAACAATAAAGCTACAGCGAGTGTTCCAGAAGTTGACCACATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCACTCCTGGGCTTTCGGGACTCTACAGCGTGGGGCCTCTTTCTCAGACATCGAAAGGCCTCCTTTTCTGGACCACAGTGGAGCGATGTGCAGGTCATCGGCTAAGCTGGGCGGGTCGGGGAGGGCAGGGGGAGTACAGTTCCTTCGGATCCCAGCAAAGGTAGACTATCAATGGCCAAGGGTTCAGAGGCAGGAAAAAAGGCCGTTTCTGGGGGGTTGGCTGGGGACACTCCCCTTCCCTTCTCTCTCCGATTAAATATAAAAGCCGATGATGATGAAGATTGAAAAGATGAGGAAAATGGCAGCCGTGTCTCGGGTATCCTCCCAGCGGAGGCCTTTCATGGACCGATACTCCTGCCGTTTGCGAAGGGCCTCCCGCCGGGCCCTCAGGCGCCGTTCCCGCTCCAGTTGTTCCCCGTAGTGGGCCTGGTAGAAGGCGTCAAAGTTGAACATCGTGCGGTTGGCGCCGGGGGAGGCCCGAGAACCGTCGTGGGTCCGAGAGGTGGGCGGCGGGGTACGCGGCGAGCCGGGGTCGGGTGCGGGCGTCCTGGAGGGCCGGACGCCAGGTCCGCGCAGGTCCTCGTCGCTGAGTAGGCCGCGATCATACTTGCGACGGAGGGTGGCACTGCCCAGCACCACGTAGGCCTGGGAGATGCGCGTGAAGCGCTCGGCGGCCTCCGCGCTCCCGGAGTTGCGGTCCGAGTGGTAGAGAAAGCACTGACGGTAGTAAGCCGCCTTGATTTGGGCCTGCGTGGCTGTGGAGGGGACGCCGAGCAGATCATACAGCGCCGTGCGCGAATACGAGCAGTCGCCCTGGGAATAAGTCCTCGCTCCTAGGCCCAGGCTGGGTGCAGAATTTTGTGGAAAGCCACGGGCCTGCAGCAACCTCCAAGGTAACAGCCGCTGCCACCATCGCCAGCGCATGGCTGCCATGTTGAATTGATTCGGCAGGCGGTGCAAGAGAAACCGGCCAATGAGAGGAGTCGGTTGGTCGCCCTGTGGCCAGTCACGTAAAGGGGGGGGCGGGGCGGTCGTGGGGGTGGAACATGCGTATTACTAAGCGGTCGCCGGGCTGATGACATAAAAACCGGGTGCCGGCAGGCGCCAGTCGCAGGTGTGCTGCTGAGGCGTGAGAATGGCGTCCCGCGGCCGGCGTCCGGAGCATGGCGGACCCCCAGAGCTGGTAAGTCCCGGGGCCCGCGGACACCCCTCTCCCCACTTCTGCGGCCACCGCGTCTGAATTATTCCTCTACATGCCATTTTCTCTTTTTCGCAGTTTTATGACGAGACAGAAGCCCGGAAATACGTTCGCAAGTGAGGGGAGCCTGAATACTGCGGGGCGTCCGGGGGTCGGGAAGCGGCAAGTTGCCCCTGTTGCTGGCGTTGCCCGGAAAGGCCGTAGAATTTGGGGGTGCGGGAAGGGAAGGACCCGGGTGGGTGCCGATTTCTGTCTCTGGTAAATCAACTTTAAGTTGCCGACCTCTCTGGGCCTCGGTACCTCAGCGTTGAGGTAGGGGTGATCGCGCTTGCTTTCCGTGGGTGGTTTTCAAAGTCGAATGTGACAATTTGTCCTAAACATGTGGTAAAAGAGGCGCTGGGCGGTGGGTACGGGCGAGGGGTCAGTCCTGGTGGGGGGAAGGAAGTAATGGCCGTAGGATGCTTATCGTGGCGCCTTGTTGCCAATAAATCTCCAAGACAGCAGTTGGTGTATTATTGTCTGAATTTCATAGAGGGTAGTTTGTATAACTACTGAGTTGTAGCCAGGTGGGAGTGGCTCACGCGTGTAATCTCAGCAATCGCAGCACTTTGGGAGGCTGAGGCGGGAGGATCGCTTGAGCTCAGGGGTTCGAGACCAGCCTGGGCAACGTAGCGAGCCCCCGTCTCCGCAAGTAATAAAAAAATTAGCCGGGTGTGGTGGCTCCCCTCTGCCTCTCCAGTAGTTGGGACCACAGGCGCGCGCCACTACGCCTGGCTTTTTTTTGTAAATTTTTGTTGCGATGGGGTCTCGCTGTGTTGCCCAAGGTGGCCCAAGCCCAGGGCTCAAGCGATCCTCCCGCCTTCGTCTCCCGAACTGTTGGGATTGCAGGCGTGAGCCAGCGCACCTCGAGTCGTTAAAAAAAAAAAAAAGGGGGGGGGATGGGGGCGGGGGGAAGCTGGCGCGGTGTCTCACGCCTGTAATCGCAACACTTTGGGAGGCTGAGGCAGACGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACTCCAGCTCTACTAAAAATGGAAAAAATTAGCCGGGCGCGATGGCGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGGGGAGGTTGCAGTGAGCCGACATCACGGCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACTTTGTGGTTTTTCCGTGCTCTCTCACTGAGAGACTAGCCCTATTTCAGTAAATGGTTACTGGCCGGGCGCTATGGCTCATACCAGTAATCCCAGCCCTGTGGGAGGCGGAGGTGGACGGATCACCTGAGGTCAGGAATTCCGAGACCAACCTGGCCAGCATGGTGAAATCCCGTCTCTACTGAAAATACAGATATTAGCCGGGCCTACGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGAGAGGCAGAGGTTGCAGTGAGCTGCGATCGCACC
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Task1_train_11250
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A variant was discovered on Chromosome 7, affecting ELN (elastin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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AGTGGCCCTTCCTCCCTCTCTCCCCCACTACGCTGAAAGCCAAGGCTGCCCAGCCCCAGGGGAGACAGGAGAGGTGGAAGACGCTGGCATGGTCCCAGCTGTAGCTGGATGGCTGCTTTGGGGGTCTGGGTTGTGAGCGAGAGCCCCAGAGAGCATGGGCCTCCCTGGTCTACGGGCGAGTGGCACCGCGCAGCAGCTGTCCCTCTCTTTACCTTTTCTGCGGAGGGTGGTCGAGACGGCTTTTGTGATTAACTCCAGCATAGAGATGAGGCTGACTGAGGCACCAGCTCACATGGCTGGGAAATAGGATTAAAACTCAGATCTTCTGACCTTGAGCCAGACAGGGAAGGAAAGTCAGCACTAAACAGGTCCTTTCTCCACCCACCCCGTGAGCCGTGCCTGTCACTGACAGTCAGTCCCAAGGGAGGTCAGCTGGGGGACCCGAGGAGGGGAGGGGTTCCCAGCAGGGCCTGCAAGGCCTGCCTTCCTACACTCACTGCTTTGTCCCCCGGCAGGAGCTCGGTTCCCCGGTGTGGGGGTGCTCCCTGGAGTTCCCACTGGAGCAGGAGTTAAGCCCAAGGCTCCAGGTATGCAGCTGTCTGGACAGAGGGCTGATGGCAGGGACTCTCCAACCACCTTCTGGCCCCGGGTGTGAAATGGGGTGGGATCCTGGACTGGCTCAGGGCCCTCTGGGTGACACTTTTTATGTTCCAGCCCTGGGCAGCCTGGTGCTGAAAAACCTCAGAGTGTGGCTGGGCACACTGGCTCACACCTGTAATCCCAGTATTTTGGGAGGGTGAGCTGGGAGGATCGCTTGAGCCCAGGAGTTAAAGACCAGCCTGGGCAACATAGCAAGACCTTATCTCTACAAAAACATGATTAAAAAATTAGCCGGACATGGTCACACACACCTATGATCCCAACTATTCAGGAGGCTAAGACAGGAGGATCTCTTGAGCCCAGGAGATCAAGGTTGTCGTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCAACAGAGACCCCGTTCCCCCGCAAAATAAGAAAGAAAGAAAAGAGGGCCAGATGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGCCTGACCAACACGGTGAAGCCCTGTCTCTACTAATAATACAAAAATTAGCTGGGCGTGGTGGCCTGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCCAGAACCTGGGAGGCAGAGGTTGCGGTGAGTTGAGATCACCCCATTCCACCCCAGCCTGGGCGACAAGAGCGAAACTCCATCTCCGAAAAAAGAAACCCCAGAGTTCATGTGAGCGCAGCATGCGATGACTGGTCTGGGAAGAACTGGCCATTCCTTGGGCCTCCTGGCCCCTTGGTGCTGTCTGGCCCAGTGTCCACAGTTCCAGGGCTGTAGTGACAGCTTTTTATCATTACAGGTGTAGGTGGAGCTTTTGCTGGAATCCCAGGTGAGGCAAGGCTGGTGGGAGAAGCAGGGTGGCCAGCCAGGCAGAGGCTCTGGCGTTGGGAGGGGTTGGGCACCCAAGATCCCATCCAAGCCTGCCCAATTTCTCCCACGCCTGCAGAGCCAGGTCTTGCAGTGGCTGTAGCACAAAGTGGCACCCATCCCAGGCCTGCTCCCCCCACTGGCATAGCAGCCCAAAATTCAAAGGAGTCCAGAAAACCCTCCAGCCTGTGCCAAGGGCTGCAGGCCCAAACTGGGGCCCAGGCCCCAGGAGGGAGAGAATCCCGTAGCTTCCTGGAGGAAGTGGCCTGTCACTGGGAATTTCTCAACTGACCCATGATGGAGATTCAGGGAGTCCCTCGAAGCAGGATGGTTTCTGGATGCTGTAGCAAGCTCCTTCTGTCTGAGCAGAAAGTGGAGTGGGTGGCGGAGGGTTTGGAAGGGGGTGCTGGGACCTGAACTTGCTCTCTTTATTCCCACAGGAGTTGGACCCTTTGGGGGACCGCAACCTGGAGTCCCACTGGGGTATCCCATCAAGGCCCCCAAGCTGCCTGGTAAGTCAGAGGGACGGTTCAAGATGCACCACTCGGCCGGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGCAAAACCCCGTCCCTACTAAAGATACAAAAATTAGCCAGGTGTGGTGGCATAGGCCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGAAGGCAGAGGTTGCAGTGAACTGAGATCGCGCTACTGCACTCCAGCCTGGGTAACAGAGTGAGACTCTCCTCCAAAAAAAGAAAAAGAAGAAAAAAAAAATGTACCACTCACTGCACCTCCCTGCACAGAAGTCAGCCTGGGTACAGGTGTCTCTGGTGGCAGGGAAGGGGTGTTGAAGCCCCTGTATGGTCACCAGCCAAGGAGAGCATGGGAAAGTCATCTGCAGGTATTGAACTCACACACACACGCTCATGCACAGAGACCCATAGTCCCGATCTGAAGCTATTAGGCTGGTGGAAAGGAACACGGTTCATTGGAAAGATCCCTCTAACATCCACCCACTCGTGCTCCCGCCCCTACCTCTGCAATCAGCTTAGACAATAAGATGCTTTCCACTGAGGAGGGGGTGTAAGGAAAATACTCAGACTCCAGGGCCATGATGGGGCTTGAATTTGTAGGGGGATGGGTGTTCCATGGGCCTCGGGGGCAGAGGTGTCCTCTCCCTCCTTCACCCAGCGCCTTTGCTCTCCTGGGAGCAGCTCAGGACCCTGATGTGGGAGGTCTCAAGCTTTAGCACCTGTGGGGGTAGATCTGTCCACCCAGGTTGGTGGGAGCCCAGCAAGGCATGGGGCAGCCCCTGAGTTTGCTCTGTCCTCTCTCCAGGTGGCTATGGACTGCCCTACACCACAGGGAAACTGCCCTATGGTGAGTGAGACCCTTCTAGACTGTGGGCTTCCAGCTCTTTCCCTCTCCAGGGTCCTAGCAAGGGTGCTGTGCTTCCAGCCCTGGGCCAGGAGAGCACCTCGCTGGGGCAGGGTTGGGGTCTTGGAGTGGGAATCTCAGAAGGAAAGGGCATGGAATTTGGACTCAGCATGGGTCTCCATCCCTGCCCTCCCACCTATCAATAATGAGACCTTAAGTGAGCTGTGTTGCTTCTTTGAGCCTCTGTGTTCTCATCTGTAAAATGGACATAACAACTCCATACATGTGTTTGTATTTGTTTTCACTCTGGCTGGGGGTGACAGGTGCAGACTCAGGACAGCTTGGGCCCCGAGGGCAGAGCAGGGGGAGGGGGAGGGCAGCAGTGGTGATGTCTGCACAGATGACCATCAAGCCTCTCTGTTTTGCAGGCTATGGGCCCGGAGGAGTGGCTGGTGCAGCGGGCAAGGCTGGTTACCCAACAGGGACAGGTAAGGAAAGCCTCACGTCACTTCCAGCCAAGGGAGCACTGATCTTCCAGGCTCCAGAGCCCTGGGGTGGGTGAGGTTCCCTCCTGAAAGCAGCAGCCCACCCTGCATCCAGACCCTGGTCCAAACCTGGAGCAGGATCCTGGGGGAGGAGTGGGGCAGCTCCATCAGCCTCTGCCTACTCTGAAGCTCCCATGTATACCCACATGTCAGTGGATTGGCTCTCTTGGGGCTGGGAACAAGTGGGCTCTGGAGATACAGGAGCACTGTTTCAAGGTCTCTCCCCTCTGCTTCCTTCCCCCAGGGGTTGGCCCCCAGGCAGCAGCAGCAGCGGCAGCTAAAGCAGCAGCAAAGTTCGGTGAGTGCCCCTGGAGTCCCCACCTGGTGGCCTCCAGGCCCCTAGCCTCTCCATTCCCATTACTATTGACAGCCTGCCTCCAAAGTGGCCCCTACATACCCCCATTTACTCAAAATTTTCAACATCACCCATCTATCTATCCCTCCCTCCAACCATTCTTCCATGCATCCATGTATCCATTCATCCTTCCATCAATCTATTACTTTCTCCATCCCTCCCTCCATCCATTCCCATTCCTCCATGCAT
|
AGTGGCCCTTCCTCCCTCTCTCCCCCACTACGCTGAAAGCCAAGGCTGCCCAGCCCCAGGGGAGACAGGAGAGGTGGAAGACGCTGGCATGGTCCCAGCTGTAGCTGGATGGCTGCTTTGGGGGTCTGGGTTGTGAGCGAGAGCCCCAGAGAGCATGGGCCTCCCTGGTCTACGGGCGAGTGGCACCGCGCAGCAGCTGTCCCTCTCTTTACCTTTTCTGCGGAGGGTGGTCGAGACGGCTTTTGTGATTAACTCCAGCATAGAGATGAGGCTGACTGAGGCACCAGCTCACATGGCTGGGAAATAGGATTAAAACTCAGATCTTCTGACCTTGAGCCAGACAGGGAAGGAAAGTCAGCACTAAACAGGTCCTTTCTCCACCCACCCCGTGAGCCGTGCCTGTCACTGACAGTCAGTCCCAAGGGAGGTCAGCTGGGGGACCCGAGGAGGGGAGGGGTTCCCAGCAGGGCCTGCAAGGCCTGCCTTCCTACACTCACTGCTTTGTCCCCCGGCAGGAGCTCGGTTCCCCGGTGTGGGGGTGCTCCCTGGAGTTCCCACTGGAGCAGGAGTTAAGCCCAAGGCTCCAGGTATGCAGCTGTCTGGACAGAGGGCTGATGGCAGGGACTCTCCAACCACCTTCTGGCCCCGGGTGTGAAATGGGGTGGGATCCTGGACTGGCTCAGGGCCCTCTGGGTGACACTTTTTATGTTCCAGCCCTGGGCAGCCTGGTGCTGAAAAACCTCAGAGTGTGGCTGGGCACACTGGCTCACACCTGTAATCCCAGTATTTTGGGAGGGTGAGCTGGGAGGATCGCTTGAGCCCAGGAGTTAAAGACCAGCCTGGGCAACATAGCAAGACCTTATCTCTACAAAAACATGATTAAAAAATTAGCCGGACATGGTCACACACACCTATGATCCCAACTATTCAGGAGGCTAAGACAGGAGGATCTCTTGAGCCCAGGAGATCAAGGTTGTCGTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCAACAGAGACCCCGTTCCCCCGCAAAATAAGAAAGAAAGAAAAGAGGGCCAGATGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGCCTGACCAACACGGTGAAGCCCTGTCTCTACTAATAATACAAAAATTAGCTGGGCGTGGTGGCCTGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCCAGAACCTGGGAGGCAGAGGTTGCGGTGAGTTGAGATCACCCCATTCCACCCCAGCCTGGGCGACAAGAGCGAAACTCCATCTCCGAAAAAAGAAACCCCAGAGTTCATGTGAGCGCAGCATGCGATGACTGGTCTGGGAAGAACTGGCCATTCCTTGGGCCTCCTGGCCCCTTGGTGCTGTCTGGCCCAGTGTCCACAGTTCCAGGGCTGTAGTGACAGCTTTTTATCATTACAGGTGTAGGTGGAGCTTTTGCTGGAATCCCAGGTGAGGCAAGGCTGGTGGGAGAAGCAGGGTGGCCAGCCAGGCAGAGGCTCTGGCGTTGGGAGGGGTTGGGCACCCAAGATCCCATCCAAGCCTGCCCAATTTCTCCCACGCCTGCAGAGCCAGGTCTTGCAGTGGCTGTAGCACAAAGTGGCACCCATCCCAGGCCTGCTCCCCCCACTGGCATAGCAGCCCAAAATTCAAAGGAGTCCAGAAAACCCTCCAGCCTGTGCCAAGGGCTGCAGGCCCAAACTGGGGCCCAGGCCCCAGGAGGGAGAGAATCCCGTAGCTTCCTGGAGGAAGTGGCCTGTCACTGGGAATTTCTCAACTGACCCATGATGGAGATTCAGGGAGTCCCTCGAAGCAGGATGGTTTCTGGATGCTGTAGCAAGCTCCTTCTGTCTGAGCAGAAAGTGGAGTGGGTGGCGGAGGGTTTGGAAGGGGGTGCTGGGACCTGAACTTGCTCTCTTTATTCCCACAGGAGTTGGACCCTTTGGGGGACCGCAACCTGGAGTCCCACTGGGGTATCCCATCAAGGCCTCCAAGCTGCCTGGTAAGTCAGAGGGACGGTTCAAGATGCACCACTCGGCCGGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGCAAAACCCCGTCCCTACTAAAGATACAAAAATTAGCCAGGTGTGGTGGCATAGGCCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGAAGGCAGAGGTTGCAGTGAACTGAGATCGCGCTACTGCACTCCAGCCTGGGTAACAGAGTGAGACTCTCCTCCAAAAAAAGAAAAAGAAGAAAAAAAAAATGTACCACTCACTGCACCTCCCTGCACAGAAGTCAGCCTGGGTACAGGTGTCTCTGGTGGCAGGGAAGGGGTGTTGAAGCCCCTGTATGGTCACCAGCCAAGGAGAGCATGGGAAAGTCATCTGCAGGTATTGAACTCACACACACACGCTCATGCACAGAGACCCATAGTCCCGATCTGAAGCTATTAGGCTGGTGGAAAGGAACACGGTTCATTGGAAAGATCCCTCTAACATCCACCCACTCGTGCTCCCGCCCCTACCTCTGCAATCAGCTTAGACAATAAGATGCTTTCCACTGAGGAGGGGGTGTAAGGAAAATACTCAGACTCCAGGGCCATGATGGGGCTTGAATTTGTAGGGGGATGGGTGTTCCATGGGCCTCGGGGGCAGAGGTGTCCTCTCCCTCCTTCACCCAGCGCCTTTGCTCTCCTGGGAGCAGCTCAGGACCCTGATGTGGGAGGTCTCAAGCTTTAGCACCTGTGGGGGTAGATCTGTCCACCCAGGTTGGTGGGAGCCCAGCAAGGCATGGGGCAGCCCCTGAGTTTGCTCTGTCCTCTCTCCAGGTGGCTATGGACTGCCCTACACCACAGGGAAACTGCCCTATGGTGAGTGAGACCCTTCTAGACTGTGGGCTTCCAGCTCTTTCCCTCTCCAGGGTCCTAGCAAGGGTGCTGTGCTTCCAGCCCTGGGCCAGGAGAGCACCTCGCTGGGGCAGGGTTGGGGTCTTGGAGTGGGAATCTCAGAAGGAAAGGGCATGGAATTTGGACTCAGCATGGGTCTCCATCCCTGCCCTCCCACCTATCAATAATGAGACCTTAAGTGAGCTGTGTTGCTTCTTTGAGCCTCTGTGTTCTCATCTGTAAAATGGACATAACAACTCCATACATGTGTTTGTATTTGTTTTCACTCTGGCTGGGGGTGACAGGTGCAGACTCAGGACAGCTTGGGCCCCGAGGGCAGAGCAGGGGGAGGGGGAGGGCAGCAGTGGTGATGTCTGCACAGATGACCATCAAGCCTCTCTGTTTTGCAGGCTATGGGCCCGGAGGAGTGGCTGGTGCAGCGGGCAAGGCTGGTTACCCAACAGGGACAGGTAAGGAAAGCCTCACGTCACTTCCAGCCAAGGGAGCACTGATCTTCCAGGCTCCAGAGCCCTGGGGTGGGTGAGGTTCCCTCCTGAAAGCAGCAGCCCACCCTGCATCCAGACCCTGGTCCAAACCTGGAGCAGGATCCTGGGGGAGGAGTGGGGCAGCTCCATCAGCCTCTGCCTACTCTGAAGCTCCCATGTATACCCACATGTCAGTGGATTGGCTCTCTTGGGGCTGGGAACAAGTGGGCTCTGGAGATACAGGAGCACTGTTTCAAGGTCTCTCCCCTCTGCTTCCTTCCCCCAGGGGTTGGCCCCCAGGCAGCAGCAGCAGCGGCAGCTAAAGCAGCAGCAAAGTTCGGTGAGTGCCCCTGGAGTCCCCACCTGGTGGCCTCCAGGCCCCTAGCCTCTCCATTCCCATTACTATTGACAGCCTGCCTCCAAAGTGGCCCCTACATACCCCCATTTACTCAAAATTTTCAACATCACCCATCTATCTATCCCTCCCTCCAACCATTCTTCCATGCATCCATGTATCCATTCATCCTTCCATCAATCTATTACTTTCTCCATCCCTCCCTCCATCCATTCCCATTCCTCCATGCAT
|
Task1_train_11251
|
A variant affecting Chromosome 7, within the gene ELN (elastin), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Supravalvar aortic stenosis
|
AATCCACCCATCCATCACTCCCTCCATCGATTCTTCCATCCATCCATCTGCCCATTCTTCCATGCATCCCTCCATCCATTCCTCCATGCACCCACCCATCCATTTCTCCATGCATGCATCCATCCTTCCATCCATTCATCCATCCATCCATCCATCCATCTATTCCTCCATGCATCCATCCACCCATCCATCCATTTCTCCATGCATCCTTCCATCCATCCATCCATCCATCCATCCATCCATCCACTCACCCATCTATCCATCCATCCATCCATCTACCCATCAATTCTTCCTTCCATCCATTCTTCCCTCTATCCATCCACTCATTCATCCATTCTTCCCTCTATCCATCCACTCATCCATCCATTCCTCCATGCATCCATTCCTCCATGCATCCATCTATCCATCCATCCATTCATCCATCCACTCATCCATCCATCCATTTACCCATCCATCCACTCGTCCATCCATCCATCCATCCATCCATCCATCAATCCATCTATCCATCACTCCCTCCATTGATTCTTCCATCCATCCATCCATCCATCTGCCCATTCTTCCGTGCATCCCTCCATCCATTCCTCCATGCACCCATCCATCCATTTCTCCATGCATGCATCCATCCATCCATCCATTCCTCCATGCATCCATGCACCCATCCATCCATTCACCCATGCATTCATTCATTCATTCATTCATTCATTCATTCATTCTTTCCTCCATGCATTCATCCATGCCTCCTTCCTTCCCTCCCTCACTGCCTCCTCCCACCCATCCATATCAGAGATCAGGGACAAACAAGAGTTCTCTTAGAGAATATAGCCACTGTTGTGGGAGTCAAGAAACGGGAGGCATTTTTTTCTACCTGAGGAAAGTTAGAAAGGCTTCCCAGAGAAAGTGACATGTGATTTAGGCCTTAAAAATAAAGATGGAGCTTACCATGTGGTTAAAACAGGAAAGAGGAGGCCAAGCAGAGGGAATGGGTACCACGGTGGTTAGAAAGATAATTTTAGGTGGTGCATATATAAGCATTTAAAATATTTAATAGTTATGTATCAATTTAATGTGTACTATAAAAATGTTAACTCACTGCTCAGGTCAGTGAGTTCTTGGCTAGCATGGCTGCAGATGGAACGTGGTATTCCTGTGCCCGTGCAGTGGGTGGAGTGGGCATCTGTCCCCTGCCCCAGGTAGTGCCCACCTCAGGGTCAGACCACTAGGGCTGAAGTCCTCCTTCATCCTCAGCCCCAGGGAAGCCCTTTCCTTATCTCCCCACCAGCCCGAGAGAGCGAGAATGTGGGGAGAAGCCTGAAGCTGGGCCTCCCAGTGGAGGCCCCGCAGGCCCCCCTCCCAGCACCCGAGGCTCCTTGGCCCCAGCGGCTGGTGGGGACGGCTGCAATGTGGGAGCGGGAGAGCAGGGCTGTGAGGGGCTGCCAGAGCCAAGCAGCCAGGCGCTTGGATTACAAACTTGGCTGCATCTTCGGAACACAGGGAGAGGAAGTCTTGAACATTCCTGCAGGGGACCCTCTGGCCCAGGGAGCGGCCACTTGTGGTTTCTCAGTATGTGGCAGTGATTAGAATGGGATTTGTCTGAAAACATACAAGTCCCTTAATGAGTGTGTTGAAATGGACACTTTGGGGGAGAGTCAAGGAACAGTGGAGTGGGGTGGGGGCCTCCCCAGACAGGCCCATCTGGAGACACCCGGGCCCCATTCCTGGATAAGATCACACTGGTGAAAACGCCGGCGTCTAAGTGGCCATCCTGCCTGTCCTCAGGAGGGTCCTTGGGAAACTACATTGCACTGTCCCCATCTCAACAGGTGCTGGAGCAGCCGGAGTCCTCCCTGGTGTTGGAGGGGCTGGTGTTCCTGGCGTGCCTGGGGCAATTCCTGGAATTGGAGGCATCGCAGGTAACATCTGTCCCAGCAGGGGGCGGGTGTGTCCTTGAGATGGCCACAGGGCAAGGACCTCACCCTCTGTGGCTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCTGCAGCAGCAGCCGCTAAGGCAGCCAAGTATGGTGAGTGCCTCCCGGGGTGGCAAGTCCACGGCTCGGGCCCCTGCATAGACCTCGGAGACCCTAGCCGCAAAGCCAGATGGACTTGGCCTTTGTTCCTTCCCAAATATGCATTGTTCATGCCTCCTTACCTTTGCCCCTTCTGATCACTCTACCTGAGATGCCATCTCTATTGTTTTGCCCTGATTAACTCAGCAGAGGGAGGGGACCCTGCAGAGGGGACATGGCTCCTCCCACTCCATCCCCTCCAGGGCCAGCCCACAGGTGTCTGCTGCATCAACTAAATGGGTGCCCAGTGGTGAGAATTCTGACTGTGCTTTAGGAATAGATCACATTCTAGCTATGCACAGTGGCTCACGCCTGTAATCCCAACAATTTGGGAGGCTAAAACCAGGAGTTTGAGACCAGCCTGAGCAACATACTGAGACCCCATCTTTCCAAAAAGTATTTAAAAATTATCTAGGCATGGTGGCACATGCCTGTGGTCCCAGCCACCTGCAAGGCTGAGGTGAGAGGATTGCTTGAGCCTAGTAGTTCAAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGTAAGTGAGAATTTGGTTCAAAAAAAAAGGAAAGAGAGACAGAAAGAGAGAGACAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGACGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAATGAAGGAAGGGAGGGAGGGAGAGAGAGAGGCAGGAAGGAAAGAAAGGAAGAAACAAAAGAGAGAAAGAGAAAGAAAGAAAGGGAAAGGAAGGAAGGAAGGAAAAAGAAAAGAGGGAGGGAGGGAGAGAGAGAGAGGGAGGGAGAGAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGGAAGGAAAGAAAAGAAAAGAAAAAGAAAGAGATCACATTCCTCCAGCTCACTGATTCAAATCCTAGAGCTCTTTAGGGACCCTCTTAGTCTCTCCACATCTCTCTGATGAGTAGGATCCATGCAGAGGAAATGTCAACCCACCTGCAATCCTGCATTCAGGACCAACTGTCACTTCCATACTCTACTAACCACCCTTCTAGCCCCTCTGAGGTTCCCATAGGTTAGGGGAACAATGCTTTTTCTTCCACAGGAGCTGCTGCAGGCTTAGTGCCTGGTGGGCCAGGCTTTGGCCCGGGAGTAGTTGGTGTCCCAGGAGCTGGCGTTCCAGGTGTTGGTGTCCCAGGAGCTGGGATTCCAGTTGTCCCAGGTGCTGGGATCCCAGGTGCTGCGGTTCCAGGTGAGCTGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTAGAGAGAAATATTGAGACTATTGCCAAAATTTTTGCATTCTCCCTAACACCATAACCATCTGCCCATACCCTTGACCACGTCTCATCCCCTCATCTTCTCTTCCTTGGGCTATACCAATCTCCTTATTAGCTTCTAATCAGTATCATATTTTCCAATTGACCTTCTGGCTATCAGTGTTCTCTGGGGGGCAGGAACCGTGTCTTTTTCAACTCCATGTTCCTAGCCCTTAGCTGAGTAGGTGTTCAGTTTATGGTGGATAAAACGGTAAGTGGGTGGATAGATGGATAAGTGGATGAATGGGTGGGTGGATGAATGAATGGATGGATAGATGGGTGGGTGGATGGATGGATGGGTGGATGGGTGGGTGGATGGATGGATGGGTGGATGGGTGGGTGGATGGATGGATGGATGGATGAATAAGTGGATGGATGAATGGGTGGATAGATGGGTAGGTGAGTGGATGTGTGGGTGGATGGGTGTGGGATGGATAGGTGAGTGGATGGATGGGGGCATGGATGGATGGGAGGATGGATGGAAGAATGGATGAATGGGTAGATGGATGAGGGATGGATGGATGGGAGGCTGAATGAAAGAACGGGTGGATGAATGGGTAGATGGGTGGATGAATGAGCACATGGTTGGAGGGGCAGATGAATAGACGG
|
AATCCACCCATCCATCACTCCCTCCATCGATTCTTCCATCCATCCATCTGCCCATTCTTCCATGCATCCCTCCATCCATTCCTCCATGCACCCACCCATCCATTTCTCCATGCATGCATCCATCCTTCCATCCATTCATCCATCCATCCATCCATCCATCTATTCCTCCATGCATCCATCCACCCATCCATCCATTTCTCCATGCATCCTTCCATCCATCCATCCATCCATCCATCCATCCATCCACTCACCCATCTATCCATCCATCCATCCATCTACCCATCAATTCTTCCTTCCATCCATTCTTCCCTCTATCCATCCACTCATTCATCCATTCTTCCCTCTATCCATCCACTCATCCATCCATTCCTCCATGCATCCATTCCTCCATGCATCCATCTATCCATCCATCCATTCATCCATCCACTCATCCATCCATCCATTTACCCATCCATCCACTCGTCCATCCATCCATCCATCCATCCATCCATCAATCCATCTATCCATCACTCCCTCCATTGATTCTTCCATCCATCCATCCATCCATCTGCCCATTCTTCCGTGCATCCCTCCATCCATTCCTCCATGCACCCATCCATCCATTTCTCCATGCATGCATCCATCCATCCATCCATTCCTCCATGCATCCATGCACCCATCCATCCATTCACCCATGCATTCATTCATTCATTCATTCATTCATTCATTCATTCTTTCCTCCATGCATTCATCCATGCCTCCTTCCTTCCCTCCCTCACTGCCTCCTCCCACCCATCCATATCAGAGATCAGGGACAAACAAGAGTTCTCTTAGAGAATATAGCCACTGTTGTGGGAGTCAAGAAACGGGAGGCATTTTTTTCTACCTGAGGAAAGTTAGAAAGGCTTCCCAGAGAAAGTGACATGTGATTTAGGCCTTAAAAATAAAGATGGAGCTTACCATGTGGTTAAAACAGGAAAGAGGAGGCCAAGCAGAGGGAATGGGTACCACGGTGGTTAGAAAGATAATTTTAGGTGGTGCATATATAAGCATTTAAAATATTTAATAGTTATGTATCAATTTAATGTGTACTATAAAAATGTTAACTCACTGCTCAGGTCAGTGAGTTCTTGGCTAGCATGGCTGCAGATGGAACGTGGTATTCCTGTGCCCGTGCAGTGGGTGGAGTGGGCATCTGTCCCCTGCCCCAGGTAGTGCCCACCTCAGGGTCAGACCACTAGGGCTGAAGTCCTCCTTCATCCTCAGCCCCAGGGAAGCCCTTTCCTTATCTCCCCACCAGCCCGAGAGAGCGAGAATGTGGGGAGAAGCCTGAAGCTGGGCCTCCCAGTGGAGGCCCCGCAGGCCCCCCTCCCAGCACCCGAGGCTCCTTGGCCCCAGCGGCTGGTGGGGACGGCTGCAATGTGGGAGCGGGAGAGCAGGGCTGTGAGGGGCTGCCAGAGCCAAGCAGCCAGGCGCTTGGATTACAAACTTGGCTGCATCTTCGGAACACAGGGAGAGGAAGTCTTGAACATTCCTGCAGGGGACCCTCTGGCCCAGGGAGCGGCCACTTGTGGTTTCTCAGTATGTGGCAGTGATTAGAATGGGATTTGTCTGAAAACATACAAGTCCCTTAATGAGTGTGTTGAAATGGACACTTTGGGGGAGAGTCAAGGAACAGTGGAGTGGGGTGGGGGCCTCCCCAGACAGGCCCATCTGGAGACACCCGGGCCCCATTCCTGGATAAGATCACACTGGTGAAAACGCCGGCGTCTAAGTGGCCATCCTGCCTGTCCTCAGGAGGGTCCTTGGGAAACTACATTGCACTGTCCCCATCTCAACAGGTGCTGGAGCAGCCGGAGTCCTCCCTGGTGTTGGAGGGGCTGGTGTTCCTGGCGTGCCTGGGGCAATTCCTGGAATTGGAGGCATCGCAGGTAACATCTGTCCCAGCAGGGGGCGGGTGTGTCCTTGAGATGGCCACAGGGCAAGGACCTCACCCTCTGTGGCTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCTGCAGCAGCAGCCGCTAAGGCAGCCAGGTATGGTGAGTGCCTCCCGGGGTGGCAAGTCCACGGCTCGGGCCCCTGCATAGACCTCGGAGACCCTAGCCGCAAAGCCAGATGGACTTGGCCTTTGTTCCTTCCCAAATATGCATTGTTCATGCCTCCTTACCTTTGCCCCTTCTGATCACTCTACCTGAGATGCCATCTCTATTGTTTTGCCCTGATTAACTCAGCAGAGGGAGGGGACCCTGCAGAGGGGACATGGCTCCTCCCACTCCATCCCCTCCAGGGCCAGCCCACAGGTGTCTGCTGCATCAACTAAATGGGTGCCCAGTGGTGAGAATTCTGACTGTGCTTTAGGAATAGATCACATTCTAGCTATGCACAGTGGCTCACGCCTGTAATCCCAACAATTTGGGAGGCTAAAACCAGGAGTTTGAGACCAGCCTGAGCAACATACTGAGACCCCATCTTTCCAAAAAGTATTTAAAAATTATCTAGGCATGGTGGCACATGCCTGTGGTCCCAGCCACCTGCAAGGCTGAGGTGAGAGGATTGCTTGAGCCTAGTAGTTCAAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGTAAGTGAGAATTTGGTTCAAAAAAAAAGGAAAGAGAGACAGAAAGAGAGAGACAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGACGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAATGAAGGAAGGGAGGGAGGGAGAGAGAGAGGCAGGAAGGAAAGAAAGGAAGAAACAAAAGAGAGAAAGAGAAAGAAAGAAAGGGAAAGGAAGGAAGGAAGGAAAAAGAAAAGAGGGAGGGAGGGAGAGAGAGAGAGGGAGGGAGAGAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGGAAGGAAAGAAAAGAAAAGAAAAAGAAAGAGATCACATTCCTCCAGCTCACTGATTCAAATCCTAGAGCTCTTTAGGGACCCTCTTAGTCTCTCCACATCTCTCTGATGAGTAGGATCCATGCAGAGGAAATGTCAACCCACCTGCAATCCTGCATTCAGGACCAACTGTCACTTCCATACTCTACTAACCACCCTTCTAGCCCCTCTGAGGTTCCCATAGGTTAGGGGAACAATGCTTTTTCTTCCACAGGAGCTGCTGCAGGCTTAGTGCCTGGTGGGCCAGGCTTTGGCCCGGGAGTAGTTGGTGTCCCAGGAGCTGGCGTTCCAGGTGTTGGTGTCCCAGGAGCTGGGATTCCAGTTGTCCCAGGTGCTGGGATCCCAGGTGCTGCGGTTCCAGGTGAGCTGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTAGAGAGAAATATTGAGACTATTGCCAAAATTTTTGCATTCTCCCTAACACCATAACCATCTGCCCATACCCTTGACCACGTCTCATCCCCTCATCTTCTCTTCCTTGGGCTATACCAATCTCCTTATTAGCTTCTAATCAGTATCATATTTTCCAATTGACCTTCTGGCTATCAGTGTTCTCTGGGGGGCAGGAACCGTGTCTTTTTCAACTCCATGTTCCTAGCCCTTAGCTGAGTAGGTGTTCAGTTTATGGTGGATAAAACGGTAAGTGGGTGGATAGATGGATAAGTGGATGAATGGGTGGGTGGATGAATGAATGGATGGATAGATGGGTGGGTGGATGGATGGATGGGTGGATGGGTGGGTGGATGGATGGATGGGTGGATGGGTGGGTGGATGGATGGATGGATGGATGAATAAGTGGATGGATGAATGGGTGGATAGATGGGTAGGTGAGTGGATGTGTGGGTGGATGGGTGTGGGATGGATAGGTGAGTGGATGGATGGGGGCATGGATGGATGGGAGGATGGATGGAAGAATGGATGAATGGGTAGATGGATGAGGGATGGATGGATGGGAGGCTGAATGAAAGAACGGGTGGATGAATGGGTAGATGGGTGGATGAATGAGCACATGGTTGGAGGGGCAGATGAATAGACGG
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Task1_train_11252
|
This sequence change occurs on Chromosome 7, altering LOC106029312, NCF1 (Williams-Beuren syndrome medial block B recombination region| neutrophil cytosolic factor 1). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; not provided
|
CCACAGTGCTAGGATTACAAGCGTGAGCTACCGTGCCTAGTCACTTTTCTCCTTTTCTTTGTAACTTTCAGTTTTGAAATTTCAAATTTACAGAAAGGCTACTGGGTGTCAAAACGGTACCAGTCACTCCAATAGTCTTTCACTCACCTTCATCCACACCTCTCTTTCTGGGGATATTTTCTGAATTATTTGAGAGTGAGTTGAAGACGTGTTTCTTTACCTCTAAATACTAGTTGTTGGGCATTTCTTAAAATCAAGGCATTCTCTTACATAATCACAACACACGTGTCAAAATCAGGAAATTAACATGGACAAAACACCATTATCCACCCACAGACTTTACTGAGGTTTCCCCGATTATCCTGCTTGTCCTCTGCAGTGAAAACTTTTTTCAGGTCTAGGATCCAGTCAAGGATCAATGTCATAGCCTTTAACCTTCTTTAATCTGGATCAGTCTTTTTTCTTTTTCTTTTTCTTTTTTTGGACACGGAATCTCACTCTGTCGCCAGACTGGAGTGCAGTGGTGCAATCTCGGCTCATTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAATACAGGTGCGCGCCACCATGCCCAGCTCGCATTTTTTGGTAGAGACAGGGTTTTGCCATATTGATTCTGGATCAGTCTTTTTTTTTTTTTTATGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCCACTCACTGCATCCTCCGCCTCCCAGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGCTGATCTCGAACTCCTGACGTCAGGTGATCTGCCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCAGCGGATTCTGGATCGGTCTTAATCAGTCTTTGTCTTTTGCAACTTTGATGTTTTGCAGAGAGCAGACCAGTTACCTTGTAGAATGTCCCTTAGTTTGGGTTTATCTTCATTAGATTCAGTTTGTGTATCCAGGGCAGTGGATCTTAGATGCAATTCTGTCTTCTTTTTAATTTTTTTGAGAGGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAACCTCAGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTATCCTGTCCCAGCCTCCCAAGTAGCTGGGATCACAGGTGCCCATCACCACTACCGGGTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACGCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGGGAGCCAACATGCCCAGCCTTCCTGCCCCTCCCGTCCCCTCCCCTCTCCTCCTGTCCCCTCCCTTCCCCTCCCCTCCCCACCCAAGCTGGAGTGCAGTGGTGCAATCATAGCTCACTAAAGCCTTGACCTCCAAGTCTCAAGCAATTCTCCTGCCTCACCTGGGGCCACAGGTGTGCGGCACCACACCCGGACAATTTTTGTGTTTTTAGTAGATATGGGGGTCTCGCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGACTCAAGCGATCTTCCCACCTCGGTACTAAAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCCAGCCTAGGTCCTACTTTTATCTCCAATTTACAGATGAGTCCATTTGAGAGAAGCTGACCCTCTTGCCCTGGGTCTCAAGGCTGGGGCGTGGCAGCACTTGGGTCCACGTTTGTGCCCTTTCTGCAATCCAGGACAACCGCAAAGATGGTCCTCACCCCAATCCTCTGGGCTTCCTCCAGTGGGTAGTGGGATCCTGGGTGCACACAGCAAAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGATGGAGGAGGGACAGGGACCCACCGTTCCAGCTCCACCCTTTGGGAAGGACCTTAGCCCAGGTGATGGGGAAACTGCAGAACCCAGAATCCCCTCCCAGACCACAGTTAAAGGGGATTTATTTATTTATATAAATTTTTGTGACAGGGTCTTGCTCTGTCACCACTCTGAACACCTCATGTTCTCTGATTACAGGCATGAGCCCCCACGCTCGGCCTTTTAGGTGGTTTTGAGAGGTATTTAGGTTTGCAGTGCAGGGGCGCAATCATAGCTCACTGCAGCCTCGACCTCTGGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCGCATCACCATGTGTGGCTAATTTTTGTATTTTTTATAAAGATGGGGATCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCAGACCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGCTAAGGGGGCATTAAAAGAAAAAAACATTTTTCCCCCTGAAACATTTAAGTAGTCTTACTGAAAACAATAAAACACAGAAACACCAGATTCTCATTTTAAAGTAAAACAGACAGGATCTCCCAGAACCTTCCTAGAATGGAACCATTCTTGTCGCTTTTGAAAAACAAAGCCAAGTTCTAGATCCCAAATAAATGCACCTGCTGGTGAACATTCTCCTTGTGGTTCTCGTCCCTATGTTAGTTATTTTCCTAAATTTTACATTTGTACCTTTTTAAGAATGAGTTATCAGTTTTTTTATATTTGCTTTTCTTTTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGGTGCAATCACGGCTCACTGCAGCCTCAACCTCCAGGGCTGAAGCGATTCTCCCATCTCAGCCTCCCATGTTGAGATCACAGGTGTGCACCACCACACCTGGCTCCTTTTCCTGATTTGTTTTTTGTAGAGATGGGATTTCGCTATGTTGCCCAGGCTGGTCTCTAACTCCTGGACTCAAGTGATCCTCCCGCCTCAGCCTCCCAAATTGCTAGGATTACAGGTTTGAGCCCCTGCACCTGGTCAACCTGAGTTTTAAGAGGATCCCTTTGGCGACTGGATTGAGGACAGACAAGAGTGGACGGGGGACACAAGGAGGCCATTTTCGTTATCCAGGCCTGGTAGTGGCTAGGGCCAGGAGGGTGGGGTTGGTGGGAAGCAGTCAGATCCCAAAGAGATTTGGGGATTGGAAGCAAAAGGATTTGCTGGTGACTTGCACATGGGAGGGAGAGAGGTCAGTGCCTCTGCTAATCAAGGAATCCAGATTGCCACCGAAATTTCTAGGCCCGAGATATTTAGGTAGTGTCTCACTCTGTCACCCAGGATGGAGTGCAGTGGCACCATCTCGGCTCACTGTAACCTCCGCCTCCCAGGTTTAAGCGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACTCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACGACAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTCGGCCTTTTAGGTGGTTTTGAGAGGTATTTAGGTCACTTCCAATCTCGTGCTTTTCCAAGTGTTGTAAACTACAAATATTCCTTCACGTCTTCTTGTCTTTTTAATGTTTAGAAAACCTTAAAAGAAATGTTCCCTATTGAGGCAGGGGCGATCAATCCAGAGAACAGGATCATCCCCCACCTCCCAGGTGAGCACGGGGCTGAGCCGCCTGTCAGGGGGTCATTGGCGGGGGCTCACCTGCCCTCCCAGCCCCTCTCGGGCTTGACCTCATGTTCTCTGGTGCCAGCTCCCAAGTGGTTTGACGGGCAGCGGGCCGCCGAGAACCGCCAGGGCACACTTACCGAGTACTGCAGCACGCTCATGAGCCTGCCCACCAAGATCTCCCGCTGTCCCCA
|
CCACAGTGCTAGGATTACAAGCGTGAGCTACCGTGCCTAGTCACTTTTCTCCTTTTCTTTGTAACTTTCAGTTTTGAAATTTCAAATTTACAGAAAGGCTACTGGGTGTCAAAACGGTACCAGTCACTCCAATAGTCTTTCACTCACCTTCATCCACACCTCTCTTTCTGGGGATATTTTCTGAATTATTTGAGAGTGAGTTGAAGACGTGTTTCTTTACCTCTAAATACTAGTTGTTGGGCATTTCTTAAAATCAAGGCATTCTCTTACATAATCACAACACACGTGTCAAAATCAGGAAATTAACATGGACAAAACACCATTATCCACCCACAGACTTTACTGAGGTTTCCCCGATTATCCTGCTTGTCCTCTGCAGTGAAAACTTTTTTCAGGTCTAGGATCCAGTCAAGGATCAATGTCATAGCCTTTAACCTTCTTTAATCTGGATCAGTCTTTTTTCTTTTTCTTTTTCTTTTTTTGGACACGGAATCTCACTCTGTCGCCAGACTGGAGTGCAGTGGTGCAATCTCGGCTCATTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAATACAGGTGCGCGCCACCATGCCCAGCTCGCATTTTTTGGTAGAGACAGGGTTTTGCCATATTGATTCTGGATCAGTCTTTTTTTTTTTTTTATGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCCACTCACTGCATCCTCCGCCTCCCAGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGCTGATCTCGAACTCCTGACGTCAGGTGATCTGCCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCAGCGGATTCTGGATCGGTCTTAATCAGTCTTTGTCTTTTGCAACTTTGATGTTTTGCAGAGAGCAGACCAGTTACCTTGTAGAATGTCCCTTAGTTTGGGTTTATCTTCATTAGATTCAGTTTGTGTATCCAGGGCAGTGGATCTTAGATGCAATTCTGTCTTCTTTTTAATTTTTTTGAGAGGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAACCTCAGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTATCCTGTCCCAGCCTCCCAAGTAGCTGGGATCACAGGTGCCCATCACCACTACCGGGTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACGCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGGGAGCCAACATGCCCAGCCTTCCTGCCCCTCCCGTCCCCTCCCCTCTCCTCCTGTCCCCTCCCTTCCCCTCCCCTCCCCACCCAAGCTGGAGTGCAGTGGTGCAATCATAGCTCACTAAAGCCTTGACCTCCAAGTCTCAAGCAATTCTCCTGCCTCACCTGGGGCCACAGGTGTGCGGCACCACACCCGGACAATTTTTGTGTTTTTAGTAGATATGGGGGTCTCGCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGACTCAAGCGATCTTCCCACCTCGGTACTAAAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCCAGCCTAGGTCCTACTTTTATCTCCAATTTACAGATGAGTCCATTTGAGAGAAGCTGACCCTCTTGCCCTGGGTCTCAAGGCTGGGGCGTGGCAGCACTTGGGTCCACGTTTGTGCCCTTTCTGCAATCCAGGACAACCGCAAAGATGGTCCTCACCCCAATCCTCTGGGCTTCCTCCAGTGGGTAGTGGGATCCTGGGTGCACACAGCAAAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACTGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGATGGAGGAGGGACAGGGACCCACCGTTCCAGCTCCACCCTTTGGGAAGGACCTTAGCCCAGGTGATGGGGAAACTGCAGAACCCAGAATCCCCTCCCAGACCACAGTTAAAGGGGATTTATTTATTTATATAAATTTTTGTGACAGGGTCTTGCTCTGTCACCACTCTGAACACCTCATGTTCTCTGATTACAGGCATGAGCCCCCACGCTCGGCCTTTTAGGTGGTTTTGAGAGGTATTTAGGTTTGCAGTGCAGGGGCGCAATCATAGCTCACTGCAGCCTCGACCTCTGGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCGCATCACCATGTGTGGCTAATTTTTGTATTTTTTATAAAGATGGGGATCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCAGACCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGCTAAGGGGGCATTAAAAGAAAAAAACATTTTTCCCCCTGAAACATTTAAGTAGTCTTACTGAAAACAATAAAACACAGAAACACCAGATTCTCATTTTAAAGTAAAACAGACAGGATCTCCCAGAACCTTCCTAGAATGGAACCATTCTTGTCGCTTTTGAAAAACAAAGCCAAGTTCTAGATCCCAAATAAATGCACCTGCTGGTGAACATTCTCCTTGTGGTTCTCGTCCCTATGTTAGTTATTTTCCTAAATTTTACATTTGTACCTTTTTAAGAATGAGTTATCAGTTTTTTTATATTTGCTTTTCTTTTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGGTGCAATCACGGCTCACTGCAGCCTCAACCTCCAGGGCTGAAGCGATTCTCCCATCTCAGCCTCCCATGTTGAGATCACAGGTGTGCACCACCACACCTGGCTCCTTTTCCTGATTTGTTTTTTGTAGAGATGGGATTTCGCTATGTTGCCCAGGCTGGTCTCTAACTCCTGGACTCAAGTGATCCTCCCGCCTCAGCCTCCCAAATTGCTAGGATTACAGGTTTGAGCCCCTGCACCTGGTCAACCTGAGTTTTAAGAGGATCCCTTTGGCGACTGGATTGAGGACAGACAAGAGTGGACGGGGGACACAAGGAGGCCATTTTCGTTATCCAGGCCTGGTAGTGGCTAGGGCCAGGAGGGTGGGGTTGGTGGGAAGCAGTCAGATCCCAAAGAGATTTGGGGATTGGAAGCAAAAGGATTTGCTGGTGACTTGCACATGGGAGGGAGAGAGGTCAGTGCCTCTGCTAATCAAGGAATCCAGATTGCCACCGAAATTTCTAGGCCCGAGATATTTAGGTAGTGTCTCACTCTGTCACCCAGGATGGAGTGCAGTGGCACCATCTCGGCTCACTGTAACCTCCGCCTCCCAGGTTTAAGCGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACTCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACGACAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTCGGCCTTTTAGGTGGTTTTGAGAGGTATTTAGGTCACTTCCAATCTCGTGCTTTTCCAAGTGTTGTAAACTACAAATATTCCTTCACGTCTTCTTGTCTTTTTAATGTTTAGAAAACCTTAAAAGAAATGTTCCCTATTGAGGCAGGGGCGATCAATCCAGAGAACAGGATCATCCCCCACCTCCCAGGTGAGCACGGGGCTGAGCCGCCTGTCAGGGGGTCATTGGCGGGGGCTCACCTGCCCTCCCAGCCCCTCTCGGGCTTGACCTCATGTTCTCTGGTGCCAGCTCCCAAGTGGTTTGACGGGCAGCGGGCCGCCGAGAACCGCCAGGGCACACTTACCGAGTACTGCAGCACGCTCATGAGCCTGCCCACCAAGATCTCCCGCTGTCCCCA
|
Task1_train_11253
|
A genetic alteration is present in LOC106029312, NCF1 (Williams-Beuren syndrome medial block B recombination region| neutrophil cytosolic factor 1) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; not provided
|
CACAGTGCTAGGATTACAAGCGTGAGCTACCGTGCCTAGTCACTTTTCTCCTTTTCTTTGTAACTTTCAGTTTTGAAATTTCAAATTTACAGAAAGGCTACTGGGTGTCAAAACGGTACCAGTCACTCCAATAGTCTTTCACTCACCTTCATCCACACCTCTCTTTCTGGGGATATTTTCTGAATTATTTGAGAGTGAGTTGAAGACGTGTTTCTTTACCTCTAAATACTAGTTGTTGGGCATTTCTTAAAATCAAGGCATTCTCTTACATAATCACAACACACGTGTCAAAATCAGGAAATTAACATGGACAAAACACCATTATCCACCCACAGACTTTACTGAGGTTTCCCCGATTATCCTGCTTGTCCTCTGCAGTGAAAACTTTTTTCAGGTCTAGGATCCAGTCAAGGATCAATGTCATAGCCTTTAACCTTCTTTAATCTGGATCAGTCTTTTTTCTTTTTCTTTTTCTTTTTTTGGACACGGAATCTCACTCTGTCGCCAGACTGGAGTGCAGTGGTGCAATCTCGGCTCATTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAATACAGGTGCGCGCCACCATGCCCAGCTCGCATTTTTTGGTAGAGACAGGGTTTTGCCATATTGATTCTGGATCAGTCTTTTTTTTTTTTTTATGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCCACTCACTGCATCCTCCGCCTCCCAGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGCTGATCTCGAACTCCTGACGTCAGGTGATCTGCCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCAGCGGATTCTGGATCGGTCTTAATCAGTCTTTGTCTTTTGCAACTTTGATGTTTTGCAGAGAGCAGACCAGTTACCTTGTAGAATGTCCCTTAGTTTGGGTTTATCTTCATTAGATTCAGTTTGTGTATCCAGGGCAGTGGATCTTAGATGCAATTCTGTCTTCTTTTTAATTTTTTTGAGAGGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAACCTCAGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTATCCTGTCCCAGCCTCCCAAGTAGCTGGGATCACAGGTGCCCATCACCACTACCGGGTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACGCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGGGAGCCAACATGCCCAGCCTTCCTGCCCCTCCCGTCCCCTCCCCTCTCCTCCTGTCCCCTCCCTTCCCCTCCCCTCCCCACCCAAGCTGGAGTGCAGTGGTGCAATCATAGCTCACTAAAGCCTTGACCTCCAAGTCTCAAGCAATTCTCCTGCCTCACCTGGGGCCACAGGTGTGCGGCACCACACCCGGACAATTTTTGTGTTTTTAGTAGATATGGGGGTCTCGCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGACTCAAGCGATCTTCCCACCTCGGTACTAAAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCCAGCCTAGGTCCTACTTTTATCTCCAATTTACAGATGAGTCCATTTGAGAGAAGCTGACCCTCTTGCCCTGGGTCTCAAGGCTGGGGCGTGGCAGCACTTGGGTCCACGTTTGTGCCCTTTCTGCAATCCAGGACAACCGCAAAGATGGTCCTCACCCCAATCCTCTGGGCTTCCTCCAGTGGGTAGTGGGATCCTGGGTGCACACAGCAAAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGATGGAGGAGGGACAGGGACCCACCGTTCCAGCTCCACCCTTTGGGAAGGACCTTAGCCCAGGTGATGGGGAAACTGCAGAACCCAGAATCCCCTCCCAGACCACAGTTAAAGGGGATTTATTTATTTATATAAATTTTTGTGACAGGGTCTTGCTCTGTCACCACTCTGAACACCTCATGTTCTCTGATTACAGGCATGAGCCCCCACGCTCGGCCTTTTAGGTGGTTTTGAGAGGTATTTAGGTTTGCAGTGCAGGGGCGCAATCATAGCTCACTGCAGCCTCGACCTCTGGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCGCATCACCATGTGTGGCTAATTTTTGTATTTTTTATAAAGATGGGGATCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCAGACCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGCTAAGGGGGCATTAAAAGAAAAAAACATTTTTCCCCCTGAAACATTTAAGTAGTCTTACTGAAAACAATAAAACACAGAAACACCAGATTCTCATTTTAAAGTAAAACAGACAGGATCTCCCAGAACCTTCCTAGAATGGAACCATTCTTGTCGCTTTTGAAAAACAAAGCCAAGTTCTAGATCCCAAATAAATGCACCTGCTGGTGAACATTCTCCTTGTGGTTCTCGTCCCTATGTTAGTTATTTTCCTAAATTTTACATTTGTACCTTTTTAAGAATGAGTTATCAGTTTTTTTATATTTGCTTTTCTTTTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGGTGCAATCACGGCTCACTGCAGCCTCAACCTCCAGGGCTGAAGCGATTCTCCCATCTCAGCCTCCCATGTTGAGATCACAGGTGTGCACCACCACACCTGGCTCCTTTTCCTGATTTGTTTTTTGTAGAGATGGGATTTCGCTATGTTGCCCAGGCTGGTCTCTAACTCCTGGACTCAAGTGATCCTCCCGCCTCAGCCTCCCAAATTGCTAGGATTACAGGTTTGAGCCCCTGCACCTGGTCAACCTGAGTTTTAAGAGGATCCCTTTGGCGACTGGATTGAGGACAGACAAGAGTGGACGGGGGACACAAGGAGGCCATTTTCGTTATCCAGGCCTGGTAGTGGCTAGGGCCAGGAGGGTGGGGTTGGTGGGAAGCAGTCAGATCCCAAAGAGATTTGGGGATTGGAAGCAAAAGGATTTGCTGGTGACTTGCACATGGGAGGGAGAGAGGTCAGTGCCTCTGCTAATCAAGGAATCCAGATTGCCACCGAAATTTCTAGGCCCGAGATATTTAGGTAGTGTCTCACTCTGTCACCCAGGATGGAGTGCAGTGGCACCATCTCGGCTCACTGTAACCTCCGCCTCCCAGGTTTAAGCGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACTCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACGACAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTCGGCCTTTTAGGTGGTTTTGAGAGGTATTTAGGTCACTTCCAATCTCGTGCTTTTCCAAGTGTTGTAAACTACAAATATTCCTTCACGTCTTCTTGTCTTTTTAATGTTTAGAAAACCTTAAAAGAAATGTTCCCTATTGAGGCAGGGGCGATCAATCCAGAGAACAGGATCATCCCCCACCTCCCAGGTGAGCACGGGGCTGAGCCGCCTGTCAGGGGGTCATTGGCGGGGGCTCACCTGCCCTCCCAGCCCCTCTCGGGCTTGACCTCATGTTCTCTGGTGCCAGCTCCCAAGTGGTTTGACGGGCAGCGGGCCGCCGAGAACCGCCAGGGCACACTTACCGAGTACTGCAGCACGCTCATGAGCCTGCCCACCAAGATCTCCCGCTGTCCCCAC
|
CACAGTGCTAGGATTACAAGCGTGAGCTACCGTGCCTAGTCACTTTTCTCCTTTTCTTTGTAACTTTCAGTTTTGAAATTTCAAATTTACAGAAAGGCTACTGGGTGTCAAAACGGTACCAGTCACTCCAATAGTCTTTCACTCACCTTCATCCACACCTCTCTTTCTGGGGATATTTTCTGAATTATTTGAGAGTGAGTTGAAGACGTGTTTCTTTACCTCTAAATACTAGTTGTTGGGCATTTCTTAAAATCAAGGCATTCTCTTACATAATCACAACACACGTGTCAAAATCAGGAAATTAACATGGACAAAACACCATTATCCACCCACAGACTTTACTGAGGTTTCCCCGATTATCCTGCTTGTCCTCTGCAGTGAAAACTTTTTTCAGGTCTAGGATCCAGTCAAGGATCAATGTCATAGCCTTTAACCTTCTTTAATCTGGATCAGTCTTTTTTCTTTTTCTTTTTCTTTTTTTGGACACGGAATCTCACTCTGTCGCCAGACTGGAGTGCAGTGGTGCAATCTCGGCTCATTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAATACAGGTGCGCGCCACCATGCCCAGCTCGCATTTTTTGGTAGAGACAGGGTTTTGCCATATTGATTCTGGATCAGTCTTTTTTTTTTTTTTATGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCCACTCACTGCATCCTCCGCCTCCCAGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGCTGATCTCGAACTCCTGACGTCAGGTGATCTGCCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCAGCGGATTCTGGATCGGTCTTAATCAGTCTTTGTCTTTTGCAACTTTGATGTTTTGCAGAGAGCAGACCAGTTACCTTGTAGAATGTCCCTTAGTTTGGGTTTATCTTCATTAGATTCAGTTTGTGTATCCAGGGCAGTGGATCTTAGATGCAATTCTGTCTTCTTTTTAATTTTTTTGAGAGGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAACCTCAGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTATCCTGTCCCAGCCTCCCAAGTAGCTGGGATCACAGGTGCCCATCACCACTACCGGGTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACGCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGGGAGCCAACATGCCCAGCCTTCCTGCCCCTCCCGTCCCCTCCCCTCTCCTCCTGTCCCCTCCCTTCCCCTCCCCTCCCCACCCAAGCTGGAGTGCAGTGGTGCAATCATAGCTCACTAAAGCCTTGACCTCCAAGTCTCAAGCAATTCTCCTGCCTCACCTGGGGCCACAGGTGTGCGGCACCACACCCGGACAATTTTTGTGTTTTTAGTAGATATGGGGGTCTCGCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGACTCAAGCGATCTTCCCACCTCGGTACTAAAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCCAGCCTAGGTCCTACTTTTATCTCCAATTTACAGATGAGTCCATTTGAGAGAAGCTGACCCTCTTGCCCTGGGTCTCAAGGCTGGGGCGTGGCAGCACTTGGGTCCACGTTTGTGCCCTTTCTGCAATCCAGGACAACCGCAAAGATGGTCCTCACCCCAATCCTCTGGGCTTCCTCCAGTGGGTAGTGGGATCCTGGGTGCACACAGCAAAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCAGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGATGGAGGAGGGACAGGGACCCACCGTTCCAGCTCCACCCTTTGGGAAGGACCTTAGCCCAGGTGATGGGGAAACTGCAGAACCCAGAATCCCCTCCCAGACCACAGTTAAAGGGGATTTATTTATTTATATAAATTTTTGTGACAGGGTCTTGCTCTGTCACCACTCTGAACACCTCATGTTCTCTGATTACAGGCATGAGCCCCCACGCTCGGCCTTTTAGGTGGTTTTGAGAGGTATTTAGGTTTGCAGTGCAGGGGCGCAATCATAGCTCACTGCAGCCTCGACCTCTGGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCGCATCACCATGTGTGGCTAATTTTTGTATTTTTTATAAAGATGGGGATCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCAGACCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGCTAAGGGGGCATTAAAAGAAAAAAACATTTTTCCCCCTGAAACATTTAAGTAGTCTTACTGAAAACAATAAAACACAGAAACACCAGATTCTCATTTTAAAGTAAAACAGACAGGATCTCCCAGAACCTTCCTAGAATGGAACCATTCTTGTCGCTTTTGAAAAACAAAGCCAAGTTCTAGATCCCAAATAAATGCACCTGCTGGTGAACATTCTCCTTGTGGTTCTCGTCCCTATGTTAGTTATTTTCCTAAATTTTACATTTGTACCTTTTTAAGAATGAGTTATCAGTTTTTTTATATTTGCTTTTCTTTTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGGTGCAATCACGGCTCACTGCAGCCTCAACCTCCAGGGCTGAAGCGATTCTCCCATCTCAGCCTCCCATGTTGAGATCACAGGTGTGCACCACCACACCTGGCTCCTTTTCCTGATTTGTTTTTTGTAGAGATGGGATTTCGCTATGTTGCCCAGGCTGGTCTCTAACTCCTGGACTCAAGTGATCCTCCCGCCTCAGCCTCCCAAATTGCTAGGATTACAGGTTTGAGCCCCTGCACCTGGTCAACCTGAGTTTTAAGAGGATCCCTTTGGCGACTGGATTGAGGACAGACAAGAGTGGACGGGGGACACAAGGAGGCCATTTTCGTTATCCAGGCCTGGTAGTGGCTAGGGCCAGGAGGGTGGGGTTGGTGGGAAGCAGTCAGATCCCAAAGAGATTTGGGGATTGGAAGCAAAAGGATTTGCTGGTGACTTGCACATGGGAGGGAGAGAGGTCAGTGCCTCTGCTAATCAAGGAATCCAGATTGCCACCGAAATTTCTAGGCCCGAGATATTTAGGTAGTGTCTCACTCTGTCACCCAGGATGGAGTGCAGTGGCACCATCTCGGCTCACTGTAACCTCCGCCTCCCAGGTTTAAGCGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACTCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACGACAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTCGGCCTTTTAGGTGGTTTTGAGAGGTATTTAGGTCACTTCCAATCTCGTGCTTTTCCAAGTGTTGTAAACTACAAATATTCCTTCACGTCTTCTTGTCTTTTTAATGTTTAGAAAACCTTAAAAGAAATGTTCCCTATTGAGGCAGGGGCGATCAATCCAGAGAACAGGATCATCCCCCACCTCCCAGGTGAGCACGGGGCTGAGCCGCCTGTCAGGGGGTCATTGGCGGGGGCTCACCTGCCCTCCCAGCCCCTCTCGGGCTTGACCTCATGTTCTCTGGTGCCAGCTCCCAAGTGGTTTGACGGGCAGCGGGCCGCCGAGAACCGCCAGGGCACACTTACCGAGTACTGCAGCACGCTCATGAGCCTGCCCACCAAGATCTCCCGCTGTCCCCAC
|
Task1_train_11254
|
A sequence alteration has been identified in LOC106029312, NCF1 (Williams-Beuren syndrome medial block B recombination region| neutrophil cytosolic factor 1) on Chromosome 7. Is it disease-inducing or harmless?
|
Pathogenic; Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
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GAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATCCAAATTAGCCAGGCGTGGTGACAGGTGCCTGTAGTCCCAGCCACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGAAGACGGAGTTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAGCAGAGCCAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGAATTGGGTCTTTGGAAGGTCCCTGGAGACTGAAAGGAGCCCTTTGCAGGTGGCAGTGCAGAGACCAGCGCAGACCCTTGCTACTGGCAGCCGGGGGAGTGTTTGCGGCTGAATGAATGAACAGGTTTTGGAGGGCAGTGTGGCCTTCAGAGGCGATGCAGGGCTGTGGCAGTTTCTAATACTTATTGCACAGTCACTGCTAATAACAATAATAATAATAATACCTAACATTAATGGAGTGCTTACTCTGTGCCAGCCACTATTTTGTTTTTGTTGTTTTCAGTGACAGGGTCTCGCTCTGTTGCCCAGGCTAGAGTGAAGTGGTGTGATCATAGCTCACTACAGCCTCGACCTCCTGGGCTGAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCATGTCCAGCTAATTTTTAATTTTCTGGTAGAGATGGGGTCTCACTACATTGCCCAAGCTGGTCTTAAGCTCTTGGCCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTATAGACATGAGCCACTGTGCCCGGCTTTTTCTTCTTCTTATAAGGACACGAGGCCTGTTGGGTTAGGGCCCACTCTACTGACCTCATTTTAATTTAATTACCTCTTGAAACGTACTTAAGAGTACCTTTCTCTTAATACACCCACACTGTAAGGTACTGGGTGGTTAGGACTTCAACATATGAATTTTGAGAAGGCGGATGTCAGCCAATACTAAACAGCATCAGCACCTCCACGGTTGGATGAAGGGCTGGTCAGAAATGCACACTCAGGTCCCACAGTGGACCTACTGAACAGGATAGGCATTTTAGCAAAATCCCAGGTATTCGGGTGCACCTTAAAGTTAGGAAAAGGTCAGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGTTGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATATCGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCTTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGTGAATTACTTGAACCTGGGAGGTGGAGGTTGCAATGAGCCAAGATTGCACCACTGCACTCCAGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGTTGGGAAAAGGCCAGGTGCAGTGGCTCCACACCTGTAATCCCAACACTTTAAGAGGCTGAGGTGGGAGAATCCTTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCATTGTCCCAAGACCTTGTCTTTACAAAAAATTAGCCGGGTGTGGTGGCATACGTCTATGGTCCCAGCTATTCGGGAGGCTGAGGCAGGGAGATTGCTTGAGCCTAGGAGTCCAGGGCTGTAGTGAGCTGTGATCACGTCACTGTACTCTAGCCTGGGCAACAGAGCAAGACTCTGTCTCCAAAAAAGAAAATAAAGTTGGGAAAGGCTCACTAACTTCATCAGATGAGAACAAGGACATGTTTGAAGTGTGAGGCCGAAGCCTGGAGAACGCTATGCGCCCAGGAAATGCAGGGCAGCAGAGACTCAAGATGCCAGCGCCTGTTCTGGAGGCCCAGATGGGCCCTGCAATGCCCACTCACCCTGCCCTCCCTCTTGCCCCAGACATCACCGGCCCCATCATCCTGCAGACGTACCGCGCCATTGCCAACTACGAGAAGACCTCGGGCTCCGAGATGGCTCTGTCCACGGGGGACGTGGTGGAGGTCGTAGAGAAGAGCGAGAGCGGTCAGACCTCCCACCTTACGGGGCTCCTTCCCCTGGTGCTCAGGAACCCACAGCCACAAGCCCCCTGCCAAGGCTCAGGCAGCCTTGCCCCTGGGAGGACTCCGGCTCTGTTAGGGGCCCTAAATGTCCTCCCCACACTGTGGGTCGCCTTCTGTCTTAGTGTGCACCCTGTGGTGGCTGTGGGCATCTGTGCATGGCAGGCCGGGGCGGGGCATGTCTGCGTGTTCTGTCTGGATGGGTATGGGACCGTCTGTTCATTATGAAGTGGGCTCAGAGCTGTGATTCTGTGAGCATGTGTGCATGCATGCATGTGACCTCATTGTCCAGTGTGGTGAAGGTGACATTTCCAAATCTGAGCATTGGACATCAGTGTGTCTGTGTCCCTGTGTCCTCACCATCCCTGATGGCTGCAGGGAGCCGCTGGGCCCTGCCCCTCAGTCACATTCCCGCACCTCTGGCACAGGTTGGTGGTTCTGTCAGATGAAAGCAAAGCGAGGCTGGATCCCAGCGTCCTTCCTCGAGCCCCTGGACAGTCCTGACGAGACGGAAGACCCTGAGCCCAACTATGCAGGTGCCCCCTGCCCTCCGAGGCTGTAGGGGTGTGGGAGAAAGGGGCAGGCAGGGCTCAGGGATATTGAGTGACTGCTTTGGAGTCTGGGCTGGTTGCTGGCTTGGCAGAAAAGTCAGGGCTAAGATCTCATCGACTCTGGCTTGGGGGCCCTGGCAGGTTGTGATGCCCTTGGTCTGGACAGGGAACCAGGAGGAGGAGCAGACGACTGGGGAGAGTGGGAGGCCAGTGGTGTCTGTGGATATGTGGCCAGGTTCAGTGGGAAGCTGAAGGATGAGCAGACCTTAGGCTCAGGAAGGAGGGCTGCCTGGAAGTGGGGGCATCATCACTGACCAGAAAGGGAAAACTGGCAGTGCCAGGGCTGGATGGGGCCTGCATTGAGCTTGAAAAAAACTATAATAGAATTGGTTACCATTTTATTTTATTATTTATTTATTTATTTTACTTTTTTGAGATAGAGTCTCACTCCCTTGCTAAGGCTGGAGTGCGGTGGTGCTATCTCAGCTCACTGCAACCTCTGCCTCCCAGGATCAAGTGATTCTCCAGCCTCAGCCTCCCCAAGTAGCTGGGATTACAAGCATGCACCACCATGCCTGGATAATTTTTGTATTTTTAGTTGAGACGGGGTTTCACCAGGTTGGCCAGACTGGTCTCGAACTTCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGATGTGAGCCACTGTCCCTGGCCTGGTTACCCACATTTTAAAATGGAGTGATTTCACCCTTTTATGTGGATTTACAGCTTTTTTTTTTTTTTTTGAGACAAAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTAATGCAATCTCAGCTCACTGCAACCTTAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCACCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGTGGGAACCACCTTGCCCAGCCTGTGGCTATCGTTTAAACACTGGGAAGGCCTGCAGCCCCCAGGCCGACAGTTAGCTGCAGCTGAGCAGTTCCCAGTGCCAGGTAGACGGATGCTCCACCCACCTACTCATGGCTGATCTCTTGTCATAGTGAAGTGTCTGGACAGACCTTCATCGTTATGGGATCTCTGGTCCCCAGAGTGGGTGGCAATGAATGGGAGTGGACAAGCTCACCTGGGTGTAGGGGGCAGAGGGCCGAAGTCCAGAGTGTACCCCCAGAGTGGGTGCCAGCAGGAGCTTGCCGAGGGATCTGGGATGGAGCAGGAGGGTGGAGGGAGGAGACCCAGAAGAGGGGGAACTGTGGGCCCTGGGTGGGTCTGGAGTGCCTGGAGGAAGCCCAGGCGCAGAGAGGA
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GAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATCCAAATTAGCCAGGCGTGGTGACAGGTGCCTGTAGTCCCAGCCACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGAAGACGGAGTTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAGCAGAGCCAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGAATTGGGTCTTTGGAAGGTCCCTGGAGACTGAAAGGAGCCCTTTGCAGGTGGCAGTGCAGAGACCAGCGCAGACCCTTGCTACTGGCAGCCGGGGGAGTGTTTGCGGCTGAATGAATGAACAGGTTTTGGAGGGCAGTGTGGCCTTCAGAGGCGATGCAGGGCTGTGGCAGTTTCTAATACTTATTGCACAGTCACTGCTAATAACAATAATAATAATAATACCTAACATTAATGGAGTGCTTACTCTGTGCCAGCCACTATTTTGTTTTTGTTGTTTTCAGTGACAGGGTCTCGCTCTGTTGCCCAGGCTAGAGTGAAGTGGTGTGATCATAGCTCACTACAGCCTCGACCTCCTGGGCTGAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCATGTCCAGCTAATTTTTAATTTTCTGGTAGAGATGGGGTCTCACTACATTGCCCAAGCTGGTCTTAAGCTCTTGGCCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTATAGACATGAGCCACTGTGCCCGGCTTTTTCTTCTTCTTATAAGGACACGAGGCCTGTTGGGTTAGGGCCCACTCTACTGACCTCATTTTAATTTAATTACCTCTTGAAACGTACTTAAGAGTACCTTTCTCTTAATACACCCACACTGTAAGGTACTGGGTGGTTAGGACTTCAACATATGAATTTTGAGAAGGCGGATGTCAGCCAATACTAAACAGCATCAGCACCTCCACGGTTGGATGAAGGGCTGGTCAGAAATGCACACTCAGGTCCCACAGTGGACCTACTGAACAGGATAGGCATTTTAGCAAAATCCCAGGTATTCGGGTGCACCTTAAAGTTAGGAAAAGGTCAGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGTTGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATATCGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCTTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGTGAATTACTTGAACCTGGGAGGTGGAGGTTGCAATGAGCCAAGATTGCACCACTGCACTCCAGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGTTGGGAAAAGGCCAGGTGCAGTGGCTCCACACCTGTAATCCCAACACTTTAAGAGGCTGAGGTGGGAGAATCCTTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCATTGTCCCAAGACCTTGTCTTTACAAAAAATTAGCCGGGTGTGGTGGCATACGTCTATGGTCCCAGCTATTCGGGAGGCTGAGGCAGGGAGATTGCTTGAGCCTAGGAGTCCAGGGCTGTAGTGAGCTGTGATCACGTCACTGTACTCTAGCCTGGGCAACAGAGCAAGACTCTGTCTCCAAAAAAGAAAATAAAGTTGGGAAAGGCTCACTAACTTCATCAGATGAGAACAAGGACATGTTTGAAGTGTGAGGCCGAAGCCTGGAGAACGCTATGCGCCCAGGAAATGCAGGGCAGCAGAGACTCAAGATGCCAGCGCCTGTTCTGGAGGCCCAGATGGGCCCTGCAATGCCCACTCACCCTGCCCTCCCTCTTGCCCCAGACATCACCGGCCCCATCATCCTGCAGACGTACCGCGCCATTGCCAACTACGAGAAGACCTCGGGCTCCGAGATGGCTCTGTCCACGGGGGACGTGGTGGAGGTCGTAGAGAAGAGCGAGAGCAGTCAGACCTCCCACCTTACGGGGCTCCTTCCCCTGGTGCTCAGGAACCCACAGCCACAAGCCCCCTGCCAAGGCTCAGGCAGCCTTGCCCCTGGGAGGACTCCGGCTCTGTTAGGGGCCCTAAATGTCCTCCCCACACTGTGGGTCGCCTTCTGTCTTAGTGTGCACCCTGTGGTGGCTGTGGGCATCTGTGCATGGCAGGCCGGGGCGGGGCATGTCTGCGTGTTCTGTCTGGATGGGTATGGGACCGTCTGTTCATTATGAAGTGGGCTCAGAGCTGTGATTCTGTGAGCATGTGTGCATGCATGCATGTGACCTCATTGTCCAGTGTGGTGAAGGTGACATTTCCAAATCTGAGCATTGGACATCAGTGTGTCTGTGTCCCTGTGTCCTCACCATCCCTGATGGCTGCAGGGAGCCGCTGGGCCCTGCCCCTCAGTCACATTCCCGCACCTCTGGCACAGGTTGGTGGTTCTGTCAGATGAAAGCAAAGCGAGGCTGGATCCCAGCGTCCTTCCTCGAGCCCCTGGACAGTCCTGACGAGACGGAAGACCCTGAGCCCAACTATGCAGGTGCCCCCTGCCCTCCGAGGCTGTAGGGGTGTGGGAGAAAGGGGCAGGCAGGGCTCAGGGATATTGAGTGACTGCTTTGGAGTCTGGGCTGGTTGCTGGCTTGGCAGAAAAGTCAGGGCTAAGATCTCATCGACTCTGGCTTGGGGGCCCTGGCAGGTTGTGATGCCCTTGGTCTGGACAGGGAACCAGGAGGAGGAGCAGACGACTGGGGAGAGTGGGAGGCCAGTGGTGTCTGTGGATATGTGGCCAGGTTCAGTGGGAAGCTGAAGGATGAGCAGACCTTAGGCTCAGGAAGGAGGGCTGCCTGGAAGTGGGGGCATCATCACTGACCAGAAAGGGAAAACTGGCAGTGCCAGGGCTGGATGGGGCCTGCATTGAGCTTGAAAAAAACTATAATAGAATTGGTTACCATTTTATTTTATTATTTATTTATTTATTTTACTTTTTTGAGATAGAGTCTCACTCCCTTGCTAAGGCTGGAGTGCGGTGGTGCTATCTCAGCTCACTGCAACCTCTGCCTCCCAGGATCAAGTGATTCTCCAGCCTCAGCCTCCCCAAGTAGCTGGGATTACAAGCATGCACCACCATGCCTGGATAATTTTTGTATTTTTAGTTGAGACGGGGTTTCACCAGGTTGGCCAGACTGGTCTCGAACTTCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGATGTGAGCCACTGTCCCTGGCCTGGTTACCCACATTTTAAAATGGAGTGATTTCACCCTTTTATGTGGATTTACAGCTTTTTTTTTTTTTTTTGAGACAAAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTAATGCAATCTCAGCTCACTGCAACCTTAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCACCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGTGGGAACCACCTTGCCCAGCCTGTGGCTATCGTTTAAACACTGGGAAGGCCTGCAGCCCCCAGGCCGACAGTTAGCTGCAGCTGAGCAGTTCCCAGTGCCAGGTAGACGGATGCTCCACCCACCTACTCATGGCTGATCTCTTGTCATAGTGAAGTGTCTGGACAGACCTTCATCGTTATGGGATCTCTGGTCCCCAGAGTGGGTGGCAATGAATGGGAGTGGACAAGCTCACCTGGGTGTAGGGGGCAGAGGGCCGAAGTCCAGAGTGTACCCCCAGAGTGGGTGCCAGCAGGAGCTTGCCGAGGGATCTGGGATGGAGCAGGAGGGTGGAGGGAGGAGACCCAGAAGAGGGGGAACTGTGGGCCCTGGGTGGGTCTGGAGTGCCTGGAGGAAGCCCAGGCGCAGAGAGGA
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Task1_train_11255
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Here’s a variant in POR (cytochrome p450 oxidoreductase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
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TGACCTCAGGTAATCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCACGCCCGGCTGCATCCTTGGATGTAAGTATCTATGGGAGGTCCTGGAACCATTCCCCCACGGATAGGGGCTATACATTTGGTTACTTTTTTTAACTTTGTTTTTTCCCCGTGTCATGAAAATGTCAGAAGTGTGATCTTGAGCAGCCGCGTGTGTGAGATTGCCTTGGTGACCTTTGCCCTCCTTTGCCACAGTGGCTGTGACAGTGAGAAGCAAGTCCCAGAGGAACTTAGAAGGGACTCAAAGCCAGGAAGGAAAGGGGGCGGCCTGGAGGGCCCCCGCCTGCCAGGCCTGCCCAGTGGGTGTTCACCGGAGCCGTGGCTGAGGTCTGTGGCCCTCACCAACCCTGTGTCTGCCTTCCTTAGGGGAGGAACATCATCGTGTTCTACGGCTCCCAGACGGGGACTGCAGAGGAGTTTGCCAACCGCCTGTCCAAGGACGCCCACCGCTACGGGATGCGAGGCATGTCAGCGGACCCTGAGGAGTATGACCTGGTAAGCTGCCACCGCGTGCTGGCCCCAGATGGAGGCAGTGGGTAGGACAGGGAGCAGGTCTGTAGGGCGCCCCTCAGCAGGGGGAGGCCGGCAGGGAGTGGGGTCCTGGGAAGACGTCCTCGGAAGTTGCCTTCCCGTGAGGGTCATTGCCATCCCTGCCCGGGCTGACTGACGGAAGGGCCATTCCTGCAGTTGCAGCCACGTGCCAGGCATCGTTTCCCCAGGACTGGCCCTCCCCTGAGTGCCGGCTGCCCTCCTGGCGGCCGCCACATCTCCCAAACCAAACCCACCCTCCCCAGCTGCTCCACTCCCCTCTCCTTCGAGGTCTTGGTGACGGGCACTACCCCACAGCCCTCTCCAGGCTGCATTTGCAGTTGATGAACAGTTTAGTTAGATATCAGTGTGCACCGGGGCTGTGCGGTGCCTGGGAGCTTTGGAATGAGGTTCCCAGGGTGGCCCCAGACCTGCATCAGCTCAGGAGGCTGCATTCTGATGGCTCTTTTGTGCCAAGCTTCACTTTCCTCTAGAAACACATCCTCTCCGCTCCAGCCTAACACGGGTGACCTTGTCCTGCCCACCTGGCACAAATGCCCATGCCCCAGCCCCTCCGTGTTGTTACTTCTCTCTGATCCCACGACACTCAGACATCCCTGGCCTGGTGCCACCCTGGGCAGGACCTGGCCTTCCCCATCTGGTGCGGGTTGAACCTTGAACAGGCTCAGTCATGGCCGGGGCGCGGTCCTGTCCCTGTTTCTGCAGGCCGACCTGAGCAGCCTGCCAGAGATCGACAACGCCCTGGTGGTTTTCTGCATGGCCACCTACGGTGAGGGAGACCCCACCGACAATGCCCAGGACTTCTACGACTGGCTGCAGGAGACAGACGTGGATCTCTCTGGGGTCAAGTTCGCGGTGAGTCACCCAGAGACTGCTATGGGCTCCCGGTGGCCTGCGGTGCCTCCCTGGGGACTCCAGATCCATGTATCTGAAAGGCAGCCCTCCAGACCCCCACCCTGTCCTCAGCAGCCAGGGCAGGCCACTTGTGAGACCCTCTCCTCTGCCCCAGACCCCAGCACTACGAGAATGTCCCCTCCCTGTCCCCAGCCCCAGTCGGCTCCAGGGGGCATTGGGTGCTGGAGACTAAAGGCAAGAAAGGTCTGGCTGGACGACTGAGACCTGCCTGGCCTCGGAGAGCTGGAGCCCCAGCCCGGTGGGGAGGGTGGGCTGGCCCCGCTTCCCTGTGGGTTGAGGCTGGCAGTGGACGGGGCAGGCTGTGGGCTGCAGGTCAACCAGATGAAGCCTCTTCAGTGGCCCAGTGTTCCTTGCAGTGCGAGGCGCCTGGTGGAACGGAGGCCTGCAGGTGTTGCCAGCAGCTCAGCCAGTGCTGTGGGGCCTCCCGCCCTGCCCCCATGGCCCCTCCCACTGGTCAGGTCGAGGGCCAGGCCTCAGAGCGGCCCCTGTGTCCACGCAGGTGTTTGGTCTTGGGAACAAGACCTACGAGCACTTCAATGCCATGGGCAAGTACGTGGACAAGCGGCTGGAGCAGCTCGGCGCCCAGCGCATCTTTGAGCTGGGGTTGGGCGACGACGATGGGAAGTGAGTGCCCACCCTGCCACCATGATCAGCGCGGCGGGCTTAGGCAGGGGCCGTGGAACGTGAGGGGCGCGCACACCATTGTGTCAGCTGAGACTCAGCGACACGCACCTCCAACACAGAGGGAAGGGGCTCTCCTGCCTCTGCCCTGCCCCTGCCAGTTTTGCTTTTCGGCTTGCCCAACTCCCTGGAGCCTTCCTGATGCTCTGGGTTTATGTCGCTGGGTGCCCCAGGGTGCACAGTCCTGAGCTTTGGGGATGGGGTGGGGTCGGGGCGTGCCTGGCACCAGGTACCGTTGCCACATGGGCCTCCCCTGAGCCGCTCCCCCTCTCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAAGGACACATCGCGTCGGGCTCTGTGGCTAGGTTCAACTTTGGCAAAAGGGCTCATTTCCTTAAAATCTGCCTCCACAGACTTGGCCAAAAACATAACGTTCCTCTCTGTGCCCTTGATGGCCCCTGGGTGCTGCCCGGGCTTCCTTACCTTCTCCCAGATGGAAGCCTGCCCAGCCCTGCCCCGGCTTCTGGGCGTCTGGCCCCCGGCAGCTCCACGCCGCCTCCCTCCTTGCTCCCTCGCCTGCCCTCCTTGTGCATCTGCAGCAGGGGCTCCCCTGCTTCTTGTCGTATGTACCTGGGACCTCACCCCAAAGGCCATGCACGGTCTCCCCTGTAGTCCAACCCCTCCCTCTCGGGACTGACCCCTGCCGCTTCCCGGCCTCACCCTTGGTCTCCCCTTTCCAGCATTCGCCAGTACGAGCTTGTGGTCCACACCGACATAGATGCGGCCAAGGTGTACATGGGGGAGATGGGCCGGCTGAAGAGCTACGAGAACCAGAAGCCGTGAGTGGAGGGAGCGTGGCTTGGGGCAGACGGCTCTATGGCCACTGGTGCACCCCAGGCTCAGTCTGCCGTGTATCCCCATATCCCCACAGGGCCCTTCTCACCAGACCCCGTGCCCCGAGTGGGTGTGAGTGTCCACGACCTGTCCACGGCCCGGCCCCAGGAGACTGGCACTCGCCCAGTTTGTACTGAGCTCACTTAGCCACCTTACTCTGCACTGCCCAGGGCAGCGGGGCACATCCCACTTCTCGACTAGGACAGTGCATTGGCCTCTGTGGCTAGGATCCTCTTTGGCAGAAGGGCTCATTTTCTTAGAATCTATCTCCATAGATAGACTTGGGGGAGAAACCTGGCGTTCCTCTCTGTGCCCTTGATGGCCCCTGGTTGCTGCCCAGATTCCTGCCCGAGCCACCCAGGGAAGTCCTCGTGCCACTGCATCCAAGACCAGCTGCCCTGCTTTCTGTAGGCCTGCCCCAGCCTGGCTGGAGCGAGAAGCCCTGCATGTCGGTGGCTTTCCGGAGTGCAAGTTTCTCTCTTGTCCACGGTGTAGTCCAGGACGTGTGGGGGTGGGGGAGCTGTGCTCCTCATTTGGGGACCAGCCACCTTCCAGCCTGTGGCACCGTCAGCTTGGGCCTCACAGTTCTTTTAGGGGCCAGCCTCAGTTTCCACATCTGTAAACAGACACTGATGACCCAGCTCTGCCCATGTGGTGGGACTATAGAGAGAACTGCATTAGGGCTGGGCGAGGTGGCTCACAGCTCTAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAAT
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TGACCTCAGGTAATCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCACGCCCGGCTGCATCCTTGGATGTAAGTATCTATGGGAGGTCCTGGAACCATTCCCCCACGGATAGGGGCTATACATTTGGTTACTTTTTTTAACTTTGTTTTTTCCCCGTGTCATGAAAATGTCAGAAGTGTGATCTTGAGCAGCCGCGTGTGTGAGATTGCCTTGGTGACCTTTGCCCTCCTTTGCCACAGTGGCTGTGACAGTGAGAAGCAAGTCCCAGAGGAACTTAGAAGGGACTCAAAGCCAGGAAGGAAAGGGGGCGGCCTGGAGGGCCCCCGCCTGCCAGGCCTGCCCAGTGGGTGTTCACCGGAGCCGTGGCTGAGGTCTGTGGCCCTCACCAACCCTGTGTCTGCCTTCCTTAGGGGAGGAACATCATCGTGTTCTACGGCTCCCAGACGGGGACTGCAGAGGAGTTTGCCAACCGCCTGTCCAAGGACGCCCACCGCTACGGGATGCGAGGCATGTCAGCGGACCCTGAGGAGTATGACCTGGTAAGCTGCCACCGCGTGCTGGCCCCAGATGGAGGCAGTGGGTAGGACAGGGAGCAGGTCTGTAGGGCGCCCCTCAGCAGGGGGAGGCCGGCAGGGAGTGGGGTCCTGGGAAGACGTCCTCGGAAGTTGCCTTCCCGTGAGGGTCATTGCCATCCCTGCCCGGGCTGACTGACGGAAGGGCCATTCCTGCAGTTGCAGCCACGTGCCAGGCATCGTTTCCCCAGGACTGGCCCTCCCCTGAGTGCCGGCTGCCCTCCTGGCGGCCGCCACATCTCCCAAACCAAACCCACCCTCCCCAGCTGCTCCACTCCCCTCTCCTTCGAGGTCTTGGTGACGGGCACTACCCCACAGCCCTCTCCAGGCTGCATTTGCAGTTGATGAACAGTTTAGTTAGATATCAGTGTGCACCGGGGCTGTGCGGTGCCTGGGAGCTTTGGAATGAGGTTCCCAGGGTGGCCCCAGACCTGCATCAGCTCAGGAGGCTGCATTCTGATGGCTCTTTTGTGCCAAGCTTCACTTTCCTCTAGAAACACATCCTCTCCGCTCCAGCCTAACACGGGTGACCTTGTCCTGCCCACCTGGCACAAATGCCCATGCCCCAGCCCCTCCGTGTTGTTACTTCTCTCTGATCCCACGACACTCAGACATCCCTGGCCTGGTGCCACCCTGGGCAGGACCTGGCCTTCCCCATCTGGTGCGGGTTGAACCTTGAACAGGCTCAGTCATGGCCGGGGCGCGGTCCTGTCCCTGTTTCTGCAGGCCGACCTGAGCAGCCTGCCAGAGATCGACAACGCCCTGGTGGTTTTCTGCATGGCCACCTACGGTGAGGGAGACCCCACCGACAATGCCCAGGACTTCTACGACTGGCTGCAGGAGACAGACGTGGATCTCTCTGGGGTCAAGTTCGCGGTGAGTCACCCAGAGACTGCTATGGGCTCCCGGTGGCCTGCGGTGCCTCCCTGGGGACTCCAGATCCATGTATCTGAAAGGCAGCCCTCCAGACCCCCACCCTGTCCTCAGCAGCCAGGGCAGGCCACTTGTGAGACCCTCTCCTCTGCCCCAGACCCCAGCACTACGAGAATGTCCCCTCCCTGTCCCCAGCCCCAGTCGGCTCCAGGGGGCATTGGGTGCTGGAGACTAAAGGCAAGAAAGGTCTGGCTGGACGACTGAGACCTGCCTGGCCTCGGAGAGCTGGAGCCCCAGCCCGGTGGGGAGGGTGGGCTGGCCCCGCTTCCCTGTGGGTTGAGGCTGGCAGTGGACGGGGCAGGCTGTGGGCTGCAGGTCAACCAGATGAAGCCTCTTCAGTGGCCCAGTGTTCCTTGCAGTGCGAGGCGCCTGGTGGAACGGAGGCCTGCAGGTGTTGCCAGCAGCTCAGCCAGTGCTGTGGGGCCTCCCGCCCTGCCCCCATGGCCCCTCCCACTGGTCAGGTCGAGGGCCAGGCCTCAGAGCGGCCCCTGTGTCCACGCAGGTGTTTGGTCTTGGGAACAAGACCGACGAGCACTTCAATGCCATGGGCAAGTACGTGGACAAGCGGCTGGAGCAGCTCGGCGCCCAGCGCATCTTTGAGCTGGGGTTGGGCGACGACGATGGGAAGTGAGTGCCCACCCTGCCACCATGATCAGCGCGGCGGGCTTAGGCAGGGGCCGTGGAACGTGAGGGGCGCGCACACCATTGTGTCAGCTGAGACTCAGCGACACGCACCTCCAACACAGAGGGAAGGGGCTCTCCTGCCTCTGCCCTGCCCCTGCCAGTTTTGCTTTTCGGCTTGCCCAACTCCCTGGAGCCTTCCTGATGCTCTGGGTTTATGTCGCTGGGTGCCCCAGGGTGCACAGTCCTGAGCTTTGGGGATGGGGTGGGGTCGGGGCGTGCCTGGCACCAGGTACCGTTGCCACATGGGCCTCCCCTGAGCCGCTCCCCCTCTCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAAGGACACATCGCGTCGGGCTCTGTGGCTAGGTTCAACTTTGGCAAAAGGGCTCATTTCCTTAAAATCTGCCTCCACAGACTTGGCCAAAAACATAACGTTCCTCTCTGTGCCCTTGATGGCCCCTGGGTGCTGCCCGGGCTTCCTTACCTTCTCCCAGATGGAAGCCTGCCCAGCCCTGCCCCGGCTTCTGGGCGTCTGGCCCCCGGCAGCTCCACGCCGCCTCCCTCCTTGCTCCCTCGCCTGCCCTCCTTGTGCATCTGCAGCAGGGGCTCCCCTGCTTCTTGTCGTATGTACCTGGGACCTCACCCCAAAGGCCATGCACGGTCTCCCCTGTAGTCCAACCCCTCCCTCTCGGGACTGACCCCTGCCGCTTCCCGGCCTCACCCTTGGTCTCCCCTTTCCAGCATTCGCCAGTACGAGCTTGTGGTCCACACCGACATAGATGCGGCCAAGGTGTACATGGGGGAGATGGGCCGGCTGAAGAGCTACGAGAACCAGAAGCCGTGAGTGGAGGGAGCGTGGCTTGGGGCAGACGGCTCTATGGCCACTGGTGCACCCCAGGCTCAGTCTGCCGTGTATCCCCATATCCCCACAGGGCCCTTCTCACCAGACCCCGTGCCCCGAGTGGGTGTGAGTGTCCACGACCTGTCCACGGCCCGGCCCCAGGAGACTGGCACTCGCCCAGTTTGTACTGAGCTCACTTAGCCACCTTACTCTGCACTGCCCAGGGCAGCGGGGCACATCCCACTTCTCGACTAGGACAGTGCATTGGCCTCTGTGGCTAGGATCCTCTTTGGCAGAAGGGCTCATTTTCTTAGAATCTATCTCCATAGATAGACTTGGGGGAGAAACCTGGCGTTCCTCTCTGTGCCCTTGATGGCCCCTGGTTGCTGCCCAGATTCCTGCCCGAGCCACCCAGGGAAGTCCTCGTGCCACTGCATCCAAGACCAGCTGCCCTGCTTTCTGTAGGCCTGCCCCAGCCTGGCTGGAGCGAGAAGCCCTGCATGTCGGTGGCTTTCCGGAGTGCAAGTTTCTCTCTTGTCCACGGTGTAGTCCAGGACGTGTGGGGGTGGGGGAGCTGTGCTCCTCATTTGGGGACCAGCCACCTTCCAGCCTGTGGCACCGTCAGCTTGGGCCTCACAGTTCTTTTAGGGGCCAGCCTCAGTTTCCACATCTGTAAACAGACACTGATGACCCAGCTCTGCCCATGTGGTGGGACTATAGAGAGAACTGCATTAGGGCTGGGCGAGGTGGCTCACAGCTCTAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAAT
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Task1_train_11256
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The gene LOC126860075, POR (CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286| cytochrome p450 oxidoreductase) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; POR-related disorder
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TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAAGGACACATCGCGTCGGGCTCTGTGGCTAGGTTCAACTTTGGCAAAAGGGCTCATTTCCTTAAAATCTGCCTCCACAGACTTGGCCAAAAACATAACGTTCCTCTCTGTGCCCTTGATGGCCCCTGGGTGCTGCCCGGGCTTCCTTACCTTCTCCCAGATGGAAGCCTGCCCAGCCCTGCCCCGGCTTCTGGGCGTCTGGCCCCCGGCAGCTCCACGCCGCCTCCCTCCTTGCTCCCTCGCCTGCCCTCCTTGTGCATCTGCAGCAGGGGCTCCCCTGCTTCTTGTCGTATGTACCTGGGACCTCACCCCAAAGGCCATGCACGGTCTCCCCTGTAGTCCAACCCCTCCCTCTCGGGACTGACCCCTGCCGCTTCCCGGCCTCACCCTTGGTCTCCCCTTTCCAGCATTCGCCAGTACGAGCTTGTGGTCCACACCGACATAGATGCGGCCAAGGTGTACATGGGGGAGATGGGCCGGCTGAAGAGCTACGAGAACCAGAAGCCGTGAGTGGAGGGAGCGTGGCTTGGGGCAGACGGCTCTATGGCCACTGGTGCACCCCAGGCTCAGTCTGCCGTGTATCCCCATATCCCCACAGGGCCCTTCTCACCAGACCCCGTGCCCCGAGTGGGTGTGAGTGTCCACGACCTGTCCACGGCCCGGCCCCAGGAGACTGGCACTCGCCCAGTTTGTACTGAGCTCACTTAGCCACCTTACTCTGCACTGCCCAGGGCAGCGGGGCACATCCCACTTCTCGACTAGGACAGTGCATTGGCCTCTGTGGCTAGGATCCTCTTTGGCAGAAGGGCTCATTTTCTTAGAATCTATCTCCATAGATAGACTTGGGGGAGAAACCTGGCGTTCCTCTCTGTGCCCTTGATGGCCCCTGGTTGCTGCCCAGATTCCTGCCCGAGCCACCCAGGGAAGTCCTCGTGCCACTGCATCCAAGACCAGCTGCCCTGCTTTCTGTAGGCCTGCCCCAGCCTGGCTGGAGCGAGAAGCCCTGCATGTCGGTGGCTTTCCGGAGTGCAAGTTTCTCTCTTGTCCACGGTGTAGTCCAGGACGTGTGGGGGTGGGGGAGCTGTGCTCCTCATTTGGGGACCAGCCACCTTCCAGCCTGTGGCACCGTCAGCTTGGGCCTCACAGTTCTTTTAGGGGCCAGCCTCAGTTTCCACATCTGTAAACAGACACTGATGACCCAGCTCTGCCCATGTGGTGGGACTATAGAGAGAACTGCATTAGGGCTGGGCGAGGTGGCTCACAGCTCTAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGGTGGCAGAGCGAAACTCTGTCTCAAAAAAAAAAAAGAGAACTGCATTGGACCAGGCTGGGAGAGCCCTTGATGTAACCGGTGAGATTTCCTCATGGAGATCTCTGAGATTCCCTGTGCTTTGTGCAACCAGAAGCGTCCTTGGAGACGGAGACTCAGATCAAAGCCCCGGCCGCTCACTGTGCTTCTCTCCTCCCCACCCAGCCCCTTTGATGCCAAGAATCCGTTCCTGGCTGCAGTCACCACCAACCGGAAGCTGAACCAGGGAACCGAGCGCCACCTCATGCACCTGGAATTGGACATCTCGGACTCCAAAATCAGGTACCAGCTGCCACTGTCACCCCCTGAACCCTCACTCTGGGCCTCCTGACCTGGGGCAGGGCCAGCCTTCCGCCCCTCCCGAGCCTCACATCTCCCTCCAGGTATGAATCTGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGT
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TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAAGGACACATCGCGTCGGGCTCTGTGGCTAGGTTCAACTTTGGCAAAAGGGCTCATTTCCTTAAAATCTGCCTCCACAGACTTGGCCAAAAACATAACGTTCCTCTCTGTGCCCTTGATGGCCCCTGGGTGCTGCCCGGGCTTCCTTACCTTCTCCCAGATGGAAGCCTGCCCAGCCCTGCCCCGGCTTCTGGGCGTCTGGCCCCCGGCAGCTCCACGCCGCCTCCCTCCTTGCTCCCTCGCCTGCCCTCCTTGTGCATCTGCAGCAGGGGCTCCCCTGCTTCTTGTCGTATGTACCTGGGACCTCACCCCAAAGGCCATGCACGGTCTCCCCTGTAGTCCAACCCCTCCCTCTCGGGACTGACCCCTGCCGCTTCCCGGCCTCACCCTTGGTCTCCCCTTTCCAGCATTCGCCAGTACGAGCTTGTGGTCCACACCGACATAGATGCGGCCAAGGTGTACATGGGGGAGATGGGCCGGCTGAAGAGCTACGAGAACCAGAAGCCGTGAGTGGAGGGAGCGTGGCTTGGGGCAGACGGCTCTATGGCCACTGGTGCACCCCAGGCTCAGTCTGCCGTGTATCCCCATATCCCCACAGGGCCCTTCTCACCAGACCCCGTGCCCCGAGTGGGTGTGAGTGTCCACGACCTGTCCACGGCCCGGCCCCAGGAGACTGGCACTCGCCCAGTTTGTACTGAGCTCACTTAGCCACCTTACTCTGCACTGCCCAGGGCAGCGGGGCACATCCCACTTCTCGACTAGGACAGTGCATTGGCCTCTGTGGCTAGGATCCTCTTTGGCAGAAGGGCTCATTTTCTTAGAATCTATCTCCATAGATAGACTTGGGGGAGAAACCTGGCGTTCCTCTCTGTGCCCTTGATGGCCCCTGGTTGCTGCCCAGATTCCTGCCCGAGCCACCCAGGGAAGTCCTCGTGCCACTGCATCCAAGACCAGCTGCCCTGCTTTCTGTAGGCCTGCCCCAGCCTGGCTGGAGCGAGAAGCCCTGCATGTCGGTGGCTTTCCGGAGTGCAAGTTTCTCTCTTGTCCACGGTGTAGTCCAGGACGTGTGGGGGTGGGGGAGCTGTGCTCCTCATTTGGGGACCAGCCACCTTCCAGCCTGTGGCACCGTCAGCTTGGGCCTCACAGTTCTTTTAGGGGCCAGCCTCAGTTTCCACATCTGTAAACAGACACTGATGACCCAGCTCTGCCCATGTGGTGGGACTATAGAGAGAACTGCATTAGGGCTGGGCGAGGTGGCTCACAGCTCTAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGGTGGCAGAGCGAAACTCTGTCTCAAAAAAAAAAAAGAGAACTGCATTGGACCAGGCTGGGAGAGCCCTTGATGTAACCGGTGAGATTTCCTCATGGAGATCTCTGAGATTCCCTGTGCTTTGTGCAACCAGAAGCGTCCTTGGAGACGGAGACTCAGATCAAAGCCCCGGCCGCTCACTGTGCTTCTCTCCTCCCCACCCAGCCCCTTTGATGCCAAGAATCCGTTCCTGCCTGCAGTCACCACCAACCGGAAGCTGAACCAGGGAACCGAGCGCCACCTCATGCACCTGGAATTGGACATCTCGGACTCCAAAATCAGGTACCAGCTGCCACTGTCACCCCCTGAACCCTCACTCTGGGCCTCCTGACCTGGGGCAGGGCCAGCCTTCCGCCCCTCCCGAGCCTCACATCTCCCTCCAGGTATGAATCTGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGT
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Task1_train_11257
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This sequence variant lies in LOC126860075, POR (CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286| cytochrome p450 oxidoreductase) on Chromosome 7. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
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TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAAGGACACATCGCGTCGGGCTCTGTGGCTAGGTTCAACTTTGGCAAAAGGGCTCATTTCCTTAAAATCTGCCTCCACAGACTTGGCCAAAAACATAACGTTCCTCTCTGTGCCCTTGATGGCCCCTGGGTGCTGCCCGGGCTTCCTTACCTTCTCCCAGATGGAAGCCTGCCCAGCCCTGCCCCGGCTTCTGGGCGTCTGGCCCCCGGCAGCTCCACGCCGCCTCCCTCCTTGCTCCCTCGCCTGCCCTCCTTGTGCATCTGCAGCAGGGGCTCCCCTGCTTCTTGTCGTATGTACCTGGGACCTCACCCCAAAGGCCATGCACGGTCTCCCCTGTAGTCCAACCCCTCCCTCTCGGGACTGACCCCTGCCGCTTCCCGGCCTCACCCTTGGTCTCCCCTTTCCAGCATTCGCCAGTACGAGCTTGTGGTCCACACCGACATAGATGCGGCCAAGGTGTACATGGGGGAGATGGGCCGGCTGAAGAGCTACGAGAACCAGAAGCCGTGAGTGGAGGGAGCGTGGCTTGGGGCAGACGGCTCTATGGCCACTGGTGCACCCCAGGCTCAGTCTGCCGTGTATCCCCATATCCCCACAGGGCCCTTCTCACCAGACCCCGTGCCCCGAGTGGGTGTGAGTGTCCACGACCTGTCCACGGCCCGGCCCCAGGAGACTGGCACTCGCCCAGTTTGTACTGAGCTCACTTAGCCACCTTACTCTGCACTGCCCAGGGCAGCGGGGCACATCCCACTTCTCGACTAGGACAGTGCATTGGCCTCTGTGGCTAGGATCCTCTTTGGCAGAAGGGCTCATTTTCTTAGAATCTATCTCCATAGATAGACTTGGGGGAGAAACCTGGCGTTCCTCTCTGTGCCCTTGATGGCCCCTGGTTGCTGCCCAGATTCCTGCCCGAGCCACCCAGGGAAGTCCTCGTGCCACTGCATCCAAGACCAGCTGCCCTGCTTTCTGTAGGCCTGCCCCAGCCTGGCTGGAGCGAGAAGCCCTGCATGTCGGTGGCTTTCCGGAGTGCAAGTTTCTCTCTTGTCCACGGTGTAGTCCAGGACGTGTGGGGGTGGGGGAGCTGTGCTCCTCATTTGGGGACCAGCCACCTTCCAGCCTGTGGCACCGTCAGCTTGGGCCTCACAGTTCTTTTAGGGGCCAGCCTCAGTTTCCACATCTGTAAACAGACACTGATGACCCAGCTCTGCCCATGTGGTGGGACTATAGAGAGAACTGCATTAGGGCTGGGCGAGGTGGCTCACAGCTCTAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGGTGGCAGAGCGAAACTCTGTCTCAAAAAAAAAAAAGAGAACTGCATTGGACCAGGCTGGGAGAGCCCTTGATGTAACCGGTGAGATTTCCTCATGGAGATCTCTGAGATTCCCTGTGCTTTGTGCAACCAGAAGCGTCCTTGGAGACGGAGACTCAGATCAAAGCCCCGGCCGCTCACTGTGCTTCTCTCCTCCCCACCCAGCCCCTTTGATGCCAAGAATCCGTTCCTGGCTGCAGTCACCACCAACCGGAAGCTGAACCAGGGAACCGAGCGCCACCTCATGCACCTGGAATTGGACATCTCGGACTCCAAAATCAGGTACCAGCTGCCACTGTCACCCCCTGAACCCTCACTCTGGGCCTCCTGACCTGGGGCAGGGCCAGCCTTCCGCCCCTCCCGAGCCTCACATCTCCCTCCAGGTATGAATCTGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGT
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TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAAGGACACATCGCGTCGGGCTCTGTGGCTAGGTTCAACTTTGGCAAAAGGGCTCATTTCCTTAAAATCTGCCTCCACAGACTTGGCCAAAAACATAACGTTCCTCTCTGTGCCCTTGATGGCCCCTGGGTGCTGCCCGGGCTTCCTTACCTTCTCCCAGATGGAAGCCTGCCCAGCCCTGCCCCGGCTTCTGGGCGTCTGGCCCCCGGCAGCTCCACGCCGCCTCCCTCCTTGCTCCCTCGCCTGCCCTCCTTGTGCATCTGCAGCAGGGGCTCCCCTGCTTCTTGTCGTATGTACCTGGGACCTCACCCCAAAGGCCATGCACGGTCTCCCCTGTAGTCCAACCCCTCCCTCTCGGGACTGACCCCTGCCGCTTCCCGGCCTCACCCTTGGTCTCCCCTTTCCAGCATTCGCCAGTACGAGCTTGTGGTCCACACCGACATAGATGCGGCCAAGGTGTACATGGGGGAGATGGGCCGGCTGAAGAGCTACGAGAACCAGAAGCCGTGAGTGGAGGGAGCGTGGCTTGGGGCAGACGGCTCTATGGCCACTGGTGCACCCCAGGCTCAGTCTGCCGTGTATCCCCATATCCCCACAGGGCCCTTCTCACCAGACCCCGTGCCCCGAGTGGGTGTGAGTGTCCACGACCTGTCCACGGCCCGGCCCCAGGAGACTGGCACTCGCCCAGTTTGTACTGAGCTCACTTAGCCACCTTACTCTGCACTGCCCAGGGCAGCGGGGCACATCCCACTTCTCGACTAGGACAGTGCATTGGCCTCTGTGGCTAGGATCCTCTTTGGCAGAAGGGCTCATTTTCTTAGAATCTATCTCCATAGATAGACTTGGGGGAGAAACCTGGCGTTCCTCTCTGTGCCCTTGATGGCCCCTGGTTGCTGCCCAGATTCCTGCCCGAGCCACCCAGGGAAGTCCTCGTGCCACTGCATCCAAGACCAGCTGCCCTGCTTTCTGTAGGCCTGCCCCAGCCTGGCTGGAGCGAGAAGCCCTGCATGTCGGTGGCTTTCCGGAGTGCAAGTTTCTCTCTTGTCCACGGTGTAGTCCAGGACGTGTGGGGGTGGGGGAGCTGTGCTCCTCATTTGGGGACCAGCCACCTTCCAGCCTGTGGCACCGTCAGCTTGGGCCTCACAGTTCTTTTAGGGGCCAGCCTCAGTTTCCACATCTGTAAACAGACACTGATGACCCAGCTCTGCCCATGTGGTGGGACTATAGAGAGAACTGCATTAGGGCTGGGCGAGGTGGCTCACAGCTCTAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGGTGGCAGAGCGAAACTCTGTCTCAAAAAAAAAAAAGAGAACTGCATTGGACCAGGCTGGGAGAGCCCTTGATGTAACCGGTGAGATTTCCTCATGGAGATCTCTGAGATTCCCTGTGCTTTGTGCAACCAGAAGCGTCCTTGGAGACGGAGACTCAGATCAAAGCCCCGGCCGCTCACTGTGCTTCTCTCCTCCCCACCCAGCCCCTTTGATGCCAAGAATCCGTTCCTGCCTGCAGTCACCACCAACCGGAAGCTGAACCAGGGAACCGAGCGCCACCTCATGCACCTGGAATTGGACATCTCGGACTCCAAAATCAGGTACCAGCTGCCACTGTCACCCCCTGAACCCTCACTCTGGGCCTCCTGACCTGGGGCAGGGCCAGCCTTCCGCCCCTCCCGAGCCTCACATCTCCCTCCAGGTATGAATCTGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGT
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Task1_train_11258
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A mutation on Chromosome 7 affecting LOC126860075, POR (CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286| cytochrome p450 oxidoreductase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
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TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAAGGACACATCGCGTCGGGCTCTGTGGCTAGGTTCAACTTTGGCAAAAGGGCTCATTTCCTTAAAATCTGCCTCCACAGACTTGGCCAAAAACATAACGTTCCTCTCTGTGCCCTTGATGGCCCCTGGGTGCTGCCCGGGCTTCCTTACCTTCTCCCAGATGGAAGCCTGCCCAGCCCTGCCCCGGCTTCTGGGCGTCTGGCCCCCGGCAGCTCCACGCCGCCTCCCTCCTTGCTCCCTCGCCTGCCCTCCTTGTGCATCTGCAGCAGGGGCTCCCCTGCTTCTTGTCGTATGTACCTGGGACCTCACCCCAAAGGCCATGCACGGTCTCCCCTGTAGTCCAACCCCTCCCTCTCGGGACTGACCCCTGCCGCTTCCCGGCCTCACCCTTGGTCTCCCCTTTCCAGCATTCGCCAGTACGAGCTTGTGGTCCACACCGACATAGATGCGGCCAAGGTGTACATGGGGGAGATGGGCCGGCTGAAGAGCTACGAGAACCAGAAGCCGTGAGTGGAGGGAGCGTGGCTTGGGGCAGACGGCTCTATGGCCACTGGTGCACCCCAGGCTCAGTCTGCCGTGTATCCCCATATCCCCACAGGGCCCTTCTCACCAGACCCCGTGCCCCGAGTGGGTGTGAGTGTCCACGACCTGTCCACGGCCCGGCCCCAGGAGACTGGCACTCGCCCAGTTTGTACTGAGCTCACTTAGCCACCTTACTCTGCACTGCCCAGGGCAGCGGGGCACATCCCACTTCTCGACTAGGACAGTGCATTGGCCTCTGTGGCTAGGATCCTCTTTGGCAGAAGGGCTCATTTTCTTAGAATCTATCTCCATAGATAGACTTGGGGGAGAAACCTGGCGTTCCTCTCTGTGCCCTTGATGGCCCCTGGTTGCTGCCCAGATTCCTGCCCGAGCCACCCAGGGAAGTCCTCGTGCCACTGCATCCAAGACCAGCTGCCCTGCTTTCTGTAGGCCTGCCCCAGCCTGGCTGGAGCGAGAAGCCCTGCATGTCGGTGGCTTTCCGGAGTGCAAGTTTCTCTCTTGTCCACGGTGTAGTCCAGGACGTGTGGGGGTGGGGGAGCTGTGCTCCTCATTTGGGGACCAGCCACCTTCCAGCCTGTGGCACCGTCAGCTTGGGCCTCACAGTTCTTTTAGGGGCCAGCCTCAGTTTCCACATCTGTAAACAGACACTGATGACCCAGCTCTGCCCATGTGGTGGGACTATAGAGAGAACTGCATTAGGGCTGGGCGAGGTGGCTCACAGCTCTAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGGTGGCAGAGCGAAACTCTGTCTCAAAAAAAAAAAAGAGAACTGCATTGGACCAGGCTGGGAGAGCCCTTGATGTAACCGGTGAGATTTCCTCATGGAGATCTCTGAGATTCCCTGTGCTTTGTGCAACCAGAAGCGTCCTTGGAGACGGAGACTCAGATCAAAGCCCCGGCCGCTCACTGTGCTTCTCTCCTCCCCACCCAGCCCCTTTGATGCCAAGAATCCGTTCCTGGCTGCAGTCACCACCAACCGGAAGCTGAACCAGGGAACCGAGCGCCACCTCATGCACCTGGAATTGGACATCTCGGACTCCAAAATCAGGTACCAGCTGCCACTGTCACCCCCTGAACCCTCACTCTGGGCCTCCTGACCTGGGGCAGGGCCAGCCTTCCGCCCCTCCCGAGCCTCACATCTCCCTCCAGGTATGAATCTGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGT
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TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAAGGACACATCGCGTCGGGCTCTGTGGCTAGGTTCAACTTTGGCAAAAGGGCTCATTTCCTTAAAATCTGCCTCCACAGACTTGGCCAAAAACATAACGTTCCTCTCTGTGCCCTTGATGGCCCCTGGGTGCTGCCCGGGCTTCCTTACCTTCTCCCAGATGGAAGCCTGCCCAGCCCTGCCCCGGCTTCTGGGCGTCTGGCCCCCGGCAGCTCCACGCCGCCTCCCTCCTTGCTCCCTCGCCTGCCCTCCTTGTGCATCTGCAGCAGGGGCTCCCCTGCTTCTTGTCGTATGTACCTGGGACCTCACCCCAAAGGCCATGCACGGTCTCCCCTGTAGTCCAACCCCTCCCTCTCGGGACTGACCCCTGCCGCTTCCCGGCCTCACCCTTGGTCTCCCCTTTCCAGCATTCGCCAGTACGAGCTTGTGGTCCACACCGACATAGATGCGGCCAAGGTGTACATGGGGGAGATGGGCCGGCTGAAGAGCTACGAGAACCAGAAGCCGTGAGTGGAGGGAGCGTGGCTTGGGGCAGACGGCTCTATGGCCACTGGTGCACCCCAGGCTCAGTCTGCCGTGTATCCCCATATCCCCACAGGGCCCTTCTCACCAGACCCCGTGCCCCGAGTGGGTGTGAGTGTCCACGACCTGTCCACGGCCCGGCCCCAGGAGACTGGCACTCGCCCAGTTTGTACTGAGCTCACTTAGCCACCTTACTCTGCACTGCCCAGGGCAGCGGGGCACATCCCACTTCTCGACTAGGACAGTGCATTGGCCTCTGTGGCTAGGATCCTCTTTGGCAGAAGGGCTCATTTTCTTAGAATCTATCTCCATAGATAGACTTGGGGGAGAAACCTGGCGTTCCTCTCTGTGCCCTTGATGGCCCCTGGTTGCTGCCCAGATTCCTGCCCGAGCCACCCAGGGAAGTCCTCGTGCCACTGCATCCAAGACCAGCTGCCCTGCTTTCTGTAGGCCTGCCCCAGCCTGGCTGGAGCGAGAAGCCCTGCATGTCGGTGGCTTTCCGGAGTGCAAGTTTCTCTCTTGTCCACGGTGTAGTCCAGGACGTGTGGGGGTGGGGGAGCTGTGCTCCTCATTTGGGGACCAGCCACCTTCCAGCCTGTGGCACCGTCAGCTTGGGCCTCACAGTTCTTTTAGGGGCCAGCCTCAGTTTCCACATCTGTAAACAGACACTGATGACCCAGCTCTGCCCATGTGGTGGGACTATAGAGAGAACTGCATTAGGGCTGGGCGAGGTGGCTCACAGCTCTAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGGTGGCAGAGCGAAACTCTGTCTCAAAAAAAAAAAAGAGAACTGCATTGGACCAGGCTGGGAGAGCCCTTGATGTAACCGGTGAGATTTCCTCATGGAGATCTCTGAGATTCCCTGTGCTTTGTGCAACCAGAAGCGTCCTTGGAGACGGAGACTCAGATCAAAGCCCCGGCCGCTCACTGTGCTTCTCTCCTCCCCACCCAGCCCCTTTGATGCCAAGAATCCGTTCCTGCCTGCAGTCACCACCAACCGGAAGCTGAACCAGGGAACCGAGCGCCACCTCATGCACCTGGAATTGGACATCTCGGACTCCAAAATCAGGTACCAGCTGCCACTGTCACCCCCTGAACCCTCACTCTGGGCCTCCTGACCTGGGGCAGGGCCAGCCTTCCGCCCCTCCCGAGCCTCACATCTCCCTCCAGGTATGAATCTGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGT
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Task1_train_11259
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A mutation on Chromosome 7 affecting LOC126860075, POR (CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286| cytochrome p450 oxidoreductase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
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TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAAGGACACATCGCGTCGGGCTCTGTGGCTAGGTTCAACTTTGGCAAAAGGGCTCATTTCCTTAAAATCTGCCTCCACAGACTTGGCCAAAAACATAACGTTCCTCTCTGTGCCCTTGATGGCCCCTGGGTGCTGCCCGGGCTTCCTTACCTTCTCCCAGATGGAAGCCTGCCCAGCCCTGCCCCGGCTTCTGGGCGTCTGGCCCCCGGCAGCTCCACGCCGCCTCCCTCCTTGCTCCCTCGCCTGCCCTCCTTGTGCATCTGCAGCAGGGGCTCCCCTGCTTCTTGTCGTATGTACCTGGGACCTCACCCCAAAGGCCATGCACGGTCTCCCCTGTAGTCCAACCCCTCCCTCTCGGGACTGACCCCTGCCGCTTCCCGGCCTCACCCTTGGTCTCCCCTTTCCAGCATTCGCCAGTACGAGCTTGTGGTCCACACCGACATAGATGCGGCCAAGGTGTACATGGGGGAGATGGGCCGGCTGAAGAGCTACGAGAACCAGAAGCCGTGAGTGGAGGGAGCGTGGCTTGGGGCAGACGGCTCTATGGCCACTGGTGCACCCCAGGCTCAGTCTGCCGTGTATCCCCATATCCCCACAGGGCCCTTCTCACCAGACCCCGTGCCCCGAGTGGGTGTGAGTGTCCACGACCTGTCCACGGCCCGGCCCCAGGAGACTGGCACTCGCCCAGTTTGTACTGAGCTCACTTAGCCACCTTACTCTGCACTGCCCAGGGCAGCGGGGCACATCCCACTTCTCGACTAGGACAGTGCATTGGCCTCTGTGGCTAGGATCCTCTTTGGCAGAAGGGCTCATTTTCTTAGAATCTATCTCCATAGATAGACTTGGGGGAGAAACCTGGCGTTCCTCTCTGTGCCCTTGATGGCCCCTGGTTGCTGCCCAGATTCCTGCCCGAGCCACCCAGGGAAGTCCTCGTGCCACTGCATCCAAGACCAGCTGCCCTGCTTTCTGTAGGCCTGCCCCAGCCTGGCTGGAGCGAGAAGCCCTGCATGTCGGTGGCTTTCCGGAGTGCAAGTTTCTCTCTTGTCCACGGTGTAGTCCAGGACGTGTGGGGGTGGGGGAGCTGTGCTCCTCATTTGGGGACCAGCCACCTTCCAGCCTGTGGCACCGTCAGCTTGGGCCTCACAGTTCTTTTAGGGGCCAGCCTCAGTTTCCACATCTGTAAACAGACACTGATGACCCAGCTCTGCCCATGTGGTGGGACTATAGAGAGAACTGCATTAGGGCTGGGCGAGGTGGCTCACAGCTCTAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGGTGGCAGAGCGAAACTCTGTCTCAAAAAAAAAAAAGAGAACTGCATTGGACCAGGCTGGGAGAGCCCTTGATGTAACCGGTGAGATTTCCTCATGGAGATCTCTGAGATTCCCTGTGCTTTGTGCAACCAGAAGCGTCCTTGGAGACGGAGACTCAGATCAAAGCCCCGGCCGCTCACTGTGCTTCTCTCCTCCCCACCCAGCCCCTTTGATGCCAAGAATCCGTTCCTGGCTGCAGTCACCACCAACCGGAAGCTGAACCAGGGAACCGAGCGCCACCTCATGCACCTGGAATTGGACATCTCGGACTCCAAAATCAGGTACCAGCTGCCACTGTCACCCCCTGAACCCTCACTCTGGGCCTCCTGACCTGGGGCAGGGCCAGCCTTCCGCCCCTCCCGAGCCTCACATCTCCCTCCAGGTATGAATCTGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGT
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TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAAGGACACATCGCGTCGGGCTCTGTGGCTAGGTTCAACTTTGGCAAAAGGGCTCATTTCCTTAAAATCTGCCTCCACAGACTTGGCCAAAAACATAACGTTCCTCTCTGTGCCCTTGATGGCCCCTGGGTGCTGCCCGGGCTTCCTTACCTTCTCCCAGATGGAAGCCTGCCCAGCCCTGCCCCGGCTTCTGGGCGTCTGGCCCCCGGCAGCTCCACGCCGCCTCCCTCCTTGCTCCCTCGCCTGCCCTCCTTGTGCATCTGCAGCAGGGGCTCCCCTGCTTCTTGTCGTATGTACCTGGGACCTCACCCCAAAGGCCATGCACGGTCTCCCCTGTAGTCCAACCCCTCCCTCTCGGGACTGACCCCTGCCGCTTCCCGGCCTCACCCTTGGTCTCCCCTTTCCAGCATTCGCCAGTACGAGCTTGTGGTCCACACCGACATAGATGCGGCCAAGGTGTACATGGGGGAGATGGGCCGGCTGAAGAGCTACGAGAACCAGAAGCCGTGAGTGGAGGGAGCGTGGCTTGGGGCAGACGGCTCTATGGCCACTGGTGCACCCCAGGCTCAGTCTGCCGTGTATCCCCATATCCCCACAGGGCCCTTCTCACCAGACCCCGTGCCCCGAGTGGGTGTGAGTGTCCACGACCTGTCCACGGCCCGGCCCCAGGAGACTGGCACTCGCCCAGTTTGTACTGAGCTCACTTAGCCACCTTACTCTGCACTGCCCAGGGCAGCGGGGCACATCCCACTTCTCGACTAGGACAGTGCATTGGCCTCTGTGGCTAGGATCCTCTTTGGCAGAAGGGCTCATTTTCTTAGAATCTATCTCCATAGATAGACTTGGGGGAGAAACCTGGCGTTCCTCTCTGTGCCCTTGATGGCCCCTGGTTGCTGCCCAGATTCCTGCCCGAGCCACCCAGGGAAGTCCTCGTGCCACTGCATCCAAGACCAGCTGCCCTGCTTTCTGTAGGCCTGCCCCAGCCTGGCTGGAGCGAGAAGCCCTGCATGTCGGTGGCTTTCCGGAGTGCAAGTTTCTCTCTTGTCCACGGTGTAGTCCAGGACGTGTGGGGGTGGGGGAGCTGTGCTCCTCATTTGGGGACCAGCCACCTTCCAGCCTGTGGCACCGTCAGCTTGGGCCTCACAGTTCTTTTAGGGGCCAGCCTCAGTTTCCACATCTGTAAACAGACACTGATGACCCAGCTCTGCCCATGTGGTGGGACTATAGAGAGAACTGCATTAGGGCTGGGCGAGGTGGCTCACAGCTCTAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGGTGGCAGAGCGAAACTCTGTCTCAAAAAAAAAAAAGAGAACTGCATTGGACCAGGCTGGGAGAGCCCTTGATGTAACCGGTGAGATTTCCTCATGGAGATCTCTGAGATTCCCTGTGCTTTGTGCAACCAGAAGCGTCCTTGGAGACGGAGACTCAGATCAAAGCCCCGGCCGCTCACTGTGCTTCTCTCCTCCCCACCCAGCCCCTTTGATGCCAAGAATCCGTTCCTGCCTGCAGTCACCACCAACCGGAAGCTGAACCAGGGAACCGAGCGCCACCTCATGCACCTGGAATTGGACATCTCGGACTCCAAAATCAGGTACCAGCTGCCACTGTCACCCCCTGAACCCTCACTCTGGGCCTCCTGACCTGGGGCAGGGCCAGCCTTCCGCCCCTCCCGAGCCTCACATCTCCCTCCAGGTATGAATCTGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGT
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Task1_train_11260
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A mutation in LOC126860075, POR (CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286| cytochrome p450 oxidoreductase), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
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TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAAGGACACATCGCGTCGGGCTCTGTGGCTAGGTTCAACTTTGGCAAAAGGGCTCATTTCCTTAAAATCTGCCTCCACAGACTTGGCCAAAAACATAACGTTCCTCTCTGTGCCCTTGATGGCCCCTGGGTGCTGCCCGGGCTTCCTTACCTTCTCCCAGATGGAAGCCTGCCCAGCCCTGCCCCGGCTTCTGGGCGTCTGGCCCCCGGCAGCTCCACGCCGCCTCCCTCCTTGCTCCCTCGCCTGCCCTCCTTGTGCATCTGCAGCAGGGGCTCCCCTGCTTCTTGTCGTATGTACCTGGGACCTCACCCCAAAGGCCATGCACGGTCTCCCCTGTAGTCCAACCCCTCCCTCTCGGGACTGACCCCTGCCGCTTCCCGGCCTCACCCTTGGTCTCCCCTTTCCAGCATTCGCCAGTACGAGCTTGTGGTCCACACCGACATAGATGCGGCCAAGGTGTACATGGGGGAGATGGGCCGGCTGAAGAGCTACGAGAACCAGAAGCCGTGAGTGGAGGGAGCGTGGCTTGGGGCAGACGGCTCTATGGCCACTGGTGCACCCCAGGCTCAGTCTGCCGTGTATCCCCATATCCCCACAGGGCCCTTCTCACCAGACCCCGTGCCCCGAGTGGGTGTGAGTGTCCACGACCTGTCCACGGCCCGGCCCCAGGAGACTGGCACTCGCCCAGTTTGTACTGAGCTCACTTAGCCACCTTACTCTGCACTGCCCAGGGCAGCGGGGCACATCCCACTTCTCGACTAGGACAGTGCATTGGCCTCTGTGGCTAGGATCCTCTTTGGCAGAAGGGCTCATTTTCTTAGAATCTATCTCCATAGATAGACTTGGGGGAGAAACCTGGCGTTCCTCTCTGTGCCCTTGATGGCCCCTGGTTGCTGCCCAGATTCCTGCCCGAGCCACCCAGGGAAGTCCTCGTGCCACTGCATCCAAGACCAGCTGCCCTGCTTTCTGTAGGCCTGCCCCAGCCTGGCTGGAGCGAGAAGCCCTGCATGTCGGTGGCTTTCCGGAGTGCAAGTTTCTCTCTTGTCCACGGTGTAGTCCAGGACGTGTGGGGGTGGGGGAGCTGTGCTCCTCATTTGGGGACCAGCCACCTTCCAGCCTGTGGCACCGTCAGCTTGGGCCTCACAGTTCTTTTAGGGGCCAGCCTCAGTTTCCACATCTGTAAACAGACACTGATGACCCAGCTCTGCCCATGTGGTGGGACTATAGAGAGAACTGCATTAGGGCTGGGCGAGGTGGCTCACAGCTCTAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGGTGGCAGAGCGAAACTCTGTCTCAAAAAAAAAAAAGAGAACTGCATTGGACCAGGCTGGGAGAGCCCTTGATGTAACCGGTGAGATTTCCTCATGGAGATCTCTGAGATTCCCTGTGCTTTGTGCAACCAGAAGCGTCCTTGGAGACGGAGACTCAGATCAAAGCCCCGGCCGCTCACTGTGCTTCTCTCCTCCCCACCCAGCCCCTTTGATGCCAAGAATCCGTTCCTGGCTGCAGTCACCACCAACCGGAAGCTGAACCAGGGAACCGAGCGCCACCTCATGCACCTGGAATTGGACATCTCGGACTCCAAAATCAGGTACCAGCTGCCACTGTCACCCCCTGAACCCTCACTCTGGGCCTCCTGACCTGGGGCAGGGCCAGCCTTCCGCCCCTCCCGAGCCTCACATCTCCCTCCAGGTATGAATCTGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGT
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TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAAGGACACATCGCGTCGGGCTCTGTGGCTAGGTTCAACTTTGGCAAAAGGGCTCATTTCCTTAAAATCTGCCTCCACAGACTTGGCCAAAAACATAACGTTCCTCTCTGTGCCCTTGATGGCCCCTGGGTGCTGCCCGGGCTTCCTTACCTTCTCCCAGATGGAAGCCTGCCCAGCCCTGCCCCGGCTTCTGGGCGTCTGGCCCCCGGCAGCTCCACGCCGCCTCCCTCCTTGCTCCCTCGCCTGCCCTCCTTGTGCATCTGCAGCAGGGGCTCCCCTGCTTCTTGTCGTATGTACCTGGGACCTCACCCCAAAGGCCATGCACGGTCTCCCCTGTAGTCCAACCCCTCCCTCTCGGGACTGACCCCTGCCGCTTCCCGGCCTCACCCTTGGTCTCCCCTTTCCAGCATTCGCCAGTACGAGCTTGTGGTCCACACCGACATAGATGCGGCCAAGGTGTACATGGGGGAGATGGGCCGGCTGAAGAGCTACGAGAACCAGAAGCCGTGAGTGGAGGGAGCGTGGCTTGGGGCAGACGGCTCTATGGCCACTGGTGCACCCCAGGCTCAGTCTGCCGTGTATCCCCATATCCCCACAGGGCCCTTCTCACCAGACCCCGTGCCCCGAGTGGGTGTGAGTGTCCACGACCTGTCCACGGCCCGGCCCCAGGAGACTGGCACTCGCCCAGTTTGTACTGAGCTCACTTAGCCACCTTACTCTGCACTGCCCAGGGCAGCGGGGCACATCCCACTTCTCGACTAGGACAGTGCATTGGCCTCTGTGGCTAGGATCCTCTTTGGCAGAAGGGCTCATTTTCTTAGAATCTATCTCCATAGATAGACTTGGGGGAGAAACCTGGCGTTCCTCTCTGTGCCCTTGATGGCCCCTGGTTGCTGCCCAGATTCCTGCCCGAGCCACCCAGGGAAGTCCTCGTGCCACTGCATCCAAGACCAGCTGCCCTGCTTTCTGTAGGCCTGCCCCAGCCTGGCTGGAGCGAGAAGCCCTGCATGTCGGTGGCTTTCCGGAGTGCAAGTTTCTCTCTTGTCCACGGTGTAGTCCAGGACGTGTGGGGGTGGGGGAGCTGTGCTCCTCATTTGGGGACCAGCCACCTTCCAGCCTGTGGCACCGTCAGCTTGGGCCTCACAGTTCTTTTAGGGGCCAGCCTCAGTTTCCACATCTGTAAACAGACACTGATGACCCAGCTCTGCCCATGTGGTGGGACTATAGAGAGAACTGCATTAGGGCTGGGCGAGGTGGCTCACAGCTCTAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGGTGGCAGAGCGAAACTCTGTCTCAAAAAAAAAAAAGAGAACTGCATTGGACCAGGCTGGGAGAGCCCTTGATGTAACCGGTGAGATTTCCTCATGGAGATCTCTGAGATTCCCTGTGCTTTGTGCAACCAGAAGCGTCCTTGGAGACGGAGACTCAGATCAAAGCCCCGGCCGCTCACTGTGCTTCTCTCCTCCCCACCCAGCCCCTTTGATGCCAAGAATCCGTTCCTGCCTGCAGTCACCACCAACCGGAAGCTGAACCAGGGAACCGAGCGCCACCTCATGCACCTGGAATTGGACATCTCGGACTCCAAAATCAGGTACCAGCTGCCACTGTCACCCCCTGAACCCTCACTCTGGGCCTCCTGACCTGGGGCAGGGCCAGCCTTCCGCCCCTCCCGAGCCTCACATCTCCCTCCAGGTATGAATCTGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGT
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Task1_train_11261
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A genetic alteration is present in POR (cytochrome p450 oxidoreductase) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
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GGAATTGGACATCTCGGACTCCAAAATCAGGTACCAGCTGCCACTGTCACCCCCTGAACCCTCACTCTGGGCCTCCTGACCTGGGGCAGGGCCAGCCTTCCGCCCCTCCCGAGCCTCACATCTCCCTCCAGGTATGAATCTGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGTGCACATCTGTGCGGTGGTTGTGGAGTACGAGACCAAGGCTGGCCGCATCAACAAGGGCGTGGCCACCAACTGGCTGCGGGCCAAGGAGCCTGCCGGGGAGAACGGCGGCCGTGCGCTGGTGCCCATGTTCGTGCGCAAGTCCCAGTTCCGCCTGCCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGTGGCACCCTTCATAGGCTTCATCCAGGAGCGGGCCTGGCTGCGACAGCAGGGTGAGTGGGGTCCCATGGGGGAGAGGGGGTGACGACTGGGAGCCCCGCGCTCACCCCGGCCCCTGCCACGCAGGCAAGGAGGTGGGGGAGACGCTGCTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTACCGGGAGGAGCTGGCGCAGTTCCACAGGGACGGTGCGCTCACCCAGCTCAACGTGGCCTTCTCCCGGGAGCAGTCCCACAAGGTGAGACGGGCGGGCACCCACGAAGGTGGGCATGAGGCTGGCAGGGCCACAGCCACAGTGCCCCCCTCACAGCACCACCCTTGGCCCCAGGTCTACGTCCAGCACCTGCTAAAGCAAGACCGAGAGCACCTGTGGAAGTTGATCGAAGGCGGTGCCCACATCTACGTCTGTGGGTGAGTGAGTGGGGTCACTGGAATAGGGGGCAGGGAGGACAAGGCCCTGCCTGCCACAGTTGGCCCAGCCCCCAGCACCCCCTCTTCCTGCCCAGGGATGCACGGAACATGGCCAGGGATGTGCAGAACACCTTCTACGACATCGTGGCTGAGCTCGGGGCCATGGAGCACGCGCAGGCGGTGGACTACATCAAGAAACTGATGACCAAGGGCCGCTACTCCCTGGACGTGTGGAGCTAGGGGCCTGCCTGCCCCACCCACCCCACAGACTCCGGCCTGTAATCAGCTCTCCTGGCTCCCTCCCGTAGTCTCCTGGGTGTGTTTGGCTTGGCCTTGGCATGGGCGCAGGCCCAGTGACAAAGACTCCTCTGGGCCTGGGGTGCATCCTCCTCAGCCCCCAGGCCAGGTGAGGTCCACCGGCCCCTGGCAGCACAGCCCAGGGCCTGCATGGGGGCACCGGGCTCCATGCCTCTGGAGGCCTCTGGCCCTCGGTGGCTGCACAGAAGGGCTCTTTCTCTCTGCTGAGCTGGGCCCAGCCCCTCCACGTGATTTCCAGTGAGTGTAAATAATTTTAAATAACCTCTGGCCCTTGGAATAAAGTTCTGTTTTCTGTATTTGCCTGGTATTGTGTGAGTAGATCTGGGACCTCCACCTGCATCAACTTAACTAACTCAGACCCCAGGAACCCATGTGGTGGGGCCACCCAGCCCTCCCCTCCCCCAGGAGAACACACACGCTCAGGCCACCTCTGGGCCTCTCTTTATTGAGGGCACTGGGCCCAGGTCTTCCTTCAGGGCCCACAGCGCCCATAAAACCCAAGGGAGAATAGAAGAGACCCCCTGATACACGCACACTCGAGGGGCGCCTCCCATCCCCTCCCACAACACACAGGACAGAAGCCCCTCTGGGCCGGCAGGGGAAGGCCCAGCCTCAATCCTTCTTGCTCCCGTGCCGCTGACTGTGAAACTTGTGGTGCACAACCCTCAGGGTGGTGAAGAAATTGCCGAGGAAAAGGAGGAGGAAGGGAAAGCCGCACATAAGCACCTGCCGGAGGAATAGGGTGAGGGCTGGACATGGGCCTGGCCCCCCATCCATCCTGTCCAGGGACCCCGGCTCACCTGCCACTCCTTGCACTGAGGGTCCTGGGCCAGGTTGAACAACGTCAGCGCGTTAAAAAGCTGCCAGAACTAAGCAGGGAGGAGGCATTTTACTCAGAAGACCCAGTCCCTGCTGGAGCCCGAAACCGGCGCAGAGGACGGACAGACAGACAGGCAGGGACACAGAGGCACGACTTACGTGTCCAAAGAAAAGAAAAGGCAGCAGGAAGGTGAGGCCCCGCCACATCCAGGACTGGAAGCCCTCTGCGGGGAGGAAGGTCAGGGCACAGGACGGCCAGGGACAGAGGGGACGCTACCACTCAGACCCGGGATGGGAGGAAAGGGGAATGTCCAGATGCCAGGG
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GGAATTGGACATCTCGGACTCCAAAATCAGGTACCAGCTGCCACTGTCACCCCCTGAACCCTCACTCTGGGCCTCCTGACCTGGGGCAGGGCCAGCCTTCCGCCCCTCCCGAGCCTCACATCTCCCTCCAGGTATGAATCTGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGTGCACATCTGTGCGGTGGTTGTGGAGTACGAGACCAAGGCTGGCCGCATCAACAAGGGCGAGGCCACCAACTGGCTGCGGGCCAAGGAGCCTGCCGGGGAGAACGGCGGCCGTGCGCTGGTGCCCATGTTCGTGCGCAAGTCCCAGTTCCGCCTGCCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGTGGCACCCTTCATAGGCTTCATCCAGGAGCGGGCCTGGCTGCGACAGCAGGGTGAGTGGGGTCCCATGGGGGAGAGGGGGTGACGACTGGGAGCCCCGCGCTCACCCCGGCCCCTGCCACGCAGGCAAGGAGGTGGGGGAGACGCTGCTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTACCGGGAGGAGCTGGCGCAGTTCCACAGGGACGGTGCGCTCACCCAGCTCAACGTGGCCTTCTCCCGGGAGCAGTCCCACAAGGTGAGACGGGCGGGCACCCACGAAGGTGGGCATGAGGCTGGCAGGGCCACAGCCACAGTGCCCCCCTCACAGCACCACCCTTGGCCCCAGGTCTACGTCCAGCACCTGCTAAAGCAAGACCGAGAGCACCTGTGGAAGTTGATCGAAGGCGGTGCCCACATCTACGTCTGTGGGTGAGTGAGTGGGGTCACTGGAATAGGGGGCAGGGAGGACAAGGCCCTGCCTGCCACAGTTGGCCCAGCCCCCAGCACCCCCTCTTCCTGCCCAGGGATGCACGGAACATGGCCAGGGATGTGCAGAACACCTTCTACGACATCGTGGCTGAGCTCGGGGCCATGGAGCACGCGCAGGCGGTGGACTACATCAAGAAACTGATGACCAAGGGCCGCTACTCCCTGGACGTGTGGAGCTAGGGGCCTGCCTGCCCCACCCACCCCACAGACTCCGGCCTGTAATCAGCTCTCCTGGCTCCCTCCCGTAGTCTCCTGGGTGTGTTTGGCTTGGCCTTGGCATGGGCGCAGGCCCAGTGACAAAGACTCCTCTGGGCCTGGGGTGCATCCTCCTCAGCCCCCAGGCCAGGTGAGGTCCACCGGCCCCTGGCAGCACAGCCCAGGGCCTGCATGGGGGCACCGGGCTCCATGCCTCTGGAGGCCTCTGGCCCTCGGTGGCTGCACAGAAGGGCTCTTTCTCTCTGCTGAGCTGGGCCCAGCCCCTCCACGTGATTTCCAGTGAGTGTAAATAATTTTAAATAACCTCTGGCCCTTGGAATAAAGTTCTGTTTTCTGTATTTGCCTGGTATTGTGTGAGTAGATCTGGGACCTCCACCTGCATCAACTTAACTAACTCAGACCCCAGGAACCCATGTGGTGGGGCCACCCAGCCCTCCCCTCCCCCAGGAGAACACACACGCTCAGGCCACCTCTGGGCCTCTCTTTATTGAGGGCACTGGGCCCAGGTCTTCCTTCAGGGCCCACAGCGCCCATAAAACCCAAGGGAGAATAGAAGAGACCCCCTGATACACGCACACTCGAGGGGCGCCTCCCATCCCCTCCCACAACACACAGGACAGAAGCCCCTCTGGGCCGGCAGGGGAAGGCCCAGCCTCAATCCTTCTTGCTCCCGTGCCGCTGACTGTGAAACTTGTGGTGCACAACCCTCAGGGTGGTGAAGAAATTGCCGAGGAAAAGGAGGAGGAAGGGAAAGCCGCACATAAGCACCTGCCGGAGGAATAGGGTGAGGGCTGGACATGGGCCTGGCCCCCCATCCATCCTGTCCAGGGACCCCGGCTCACCTGCCACTCCTTGCACTGAGGGTCCTGGGCCAGGTTGAACAACGTCAGCGCGTTAAAAAGCTGCCAGAACTAAGCAGGGAGGAGGCATTTTACTCAGAAGACCCAGTCCCTGCTGGAGCCCGAAACCGGCGCAGAGGACGGACAGACAGACAGGCAGGGACACAGAGGCACGACTTACGTGTCCAAAGAAAAGAAAAGGCAGCAGGAAGGTGAGGCCCCGCCACATCCAGGACTGGAAGCCCTCTGCGGGGAGGAAGGTCAGGGCACAGGACGGCCAGGGACAGAGGGGACGCTACCACTCAGACCCGGGATGGGAGGAAAGGGGAATGTCCAGATGCCAGGG
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Task1_train_11262
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This variant affects the gene POR (cytochrome p450 oxidoreductase) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
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TGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGTGCACATCTGTGCGGTGGTTGTGGAGTACGAGACCAAGGCTGGCCGCATCAACAAGGGCGTGGCCACCAACTGGCTGCGGGCCAAGGAGCCTGCCGGGGAGAACGGCGGCCGTGCGCTGGTGCCCATGTTCGTGCGCAAGTCCCAGTTCCGCCTGCCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGTGGCACCCTTCATAGGCTTCATCCAGGAGCGGGCCTGGCTGCGACAGCAGGGTGAGTGGGGTCCCATGGGGGAGAGGGGGTGACGACTGGGAGCCCCGCGCTCACCCCGGCCCCTGCCACGCAGGCAAGGAGGTGGGGGAGACGCTGCTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTACCGGGAGGAGCTGGCGCAGTTCCACAGGGACGGTGCGCTCACCCAGCTCAACGTGGCCTTCTCCCGGGAGCAGTCCCACAAGGTGAGACGGGCGGGCACCCACGAAGGTGGGCATGAGGCTGGCAGGGCCACAGCCACAGTGCCCCCCTCACAGCACCACCCTTGGCCCCAGGTCTACGTCCAGCACCTGCTAAAGCAAGACCGAGAGCACCTGTGGAAGTTGATCGAAGGCGGTGCCCACATCTACGTCTGTGGGTGAGTGAGTGGGGTCACTGGAATAGGGGGCAGGGAGGACAAGGCCCTGCCTGCCACAGTTGGCCCAGCCCCCAGCACCCCCTCTTCCTGCCCAGGGATGCACGGAACATGGCCAGGGATGTGCAGAACACCTTCTACGACATCGTGGCTGAGCTCGGGGCCATGGAGCACGCGCAGGCGGTGGACTACATCAAGAAACTGATGACCAAGGGCCGCTACTCCCTGGACGTGTGGAGCTAGGGGCCTGCCTGCCCCACCCACCCCACAGACTCCGGCCTGTAATCAGCTCTCCTGGCTCCCTCCCGTAGTCTCCTGGGTGTGTTTGGCTTGGCCTTGGCATGGGCGCAGGCCCAGTGACAAAGACTCCTCTGGGCCTGGGGTGCATCCTCCTCAGCCCCCAGGCCAGGTGAGGTCCACCGGCCCCTGGCAGCACAGCCCAGGGCCTGCATGGGGGCACCGGGCTCCATGCCTCTGGAGGCCTCTGGCCCTCGGTGGCTGCACAGAAGGGCTCTTTCTCTCTGCTGAGCTGGGCCCAGCCCCTCCACGTGATTTCCAGTGAGTGTAAATAATTTTAAATAACCTCTGGCCCTTGGAATAAAGTTCTGTTTTCTGTATTTGCCTGGTATTGTGTGAGTAGATCTGGGACCTCCACCTGCATCAACTTAACTAACTCAGACCCCAGGAACCCATGTGGTGGGGCCACCCAGCCCTCCCCTCCCCCAGGAGAACACACACGCTCAGGCCACCTCTGGGCCTCTCTTTATTGAGGGCACTGGGCCCAGGTCTTCCTTCAGGGCCCACAGCGCCCATAAAACCCAAGGGAGAATAGAAGAGACCCCCTGATACACGCACACTCGAGGGGCGCCTCCCATCCCCTCCCACAACACACAGGACAGAAGCCCCTCTGGGCCGGCAGGGGAAGGCCCAGCCTCAATCCTTCTTGCTCCCGTGCCGCTGACTGTGAAACTTGTGGTGCACAACCCTCAGGGTGGTGAAGAAATTGCCGAGGAAAAGGAGGAGGAAGGGAAAGCCGCACATAAGCACCTGCCGGAGGAATAGGGTGAGGGCTGGACATGGGCCTGGCCCCCCATCCATCCTGTCCAGGGACCCCGGCTCACCTGCCACTCCTTGCACTGAGGGTCCTGGGCCAGGTTGAACAACGTCAGCGCGTTAAAAAGCTGCCAGAACTAAGCAGGGAGGAGGCATTTTACTCAGAAGACCCAGTCCCTGCTGGAGCCCGAAACCGGCGCAGAGGACGGACAGACAGACAGGCAGGGACACAGAGGCACGACTTACGTGTCCAAAGAAAAGAAAAGGCAGCAGGAAGGTGAGGCCCCGCCACATCCAGGACTGGAAGCCCTCTGCGGGGAGGAAGGTCAGGGCACAGGACGGCCAGGGACAGAGGGGACGCTACCACTCAGACCCGGGATGGGAGGAAAGGGGAATGTCCAGATGCCAGGGCCACTCCCGACTCACCCACAGTGAGGTCCATGGTGTGCCGCTCGCCCAGCGCCCGCAGGCGGTAGAGGCAGCCGCTCTGGTAGTAGTACTGGAGAAACTGCACGAAGCCTGGGCCGGGCGGAGGACAGAGGAGCAGGGCT
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TGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGTGCACATCTGTGCGGTGGTTGTGGAGTACGAGACCAAGGCTGGCCGCATCAACAAGGGCGTGGCCACCAACTGGCTGCGGGCCAAGGAGCCTGCCGGGGAGAACGGCGGCCGTGCGCTGGTGCCCATGTTCGTGCGCAAGTCCCAGTTCCGCCTGCCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCAGGGTGGCACCCTTCATAGGCTTCATCCAGGAGCGGGCCTGGCTGCGACAGCAGGGTGAGTGGGGTCCCATGGGGGAGAGGGGGTGACGACTGGGAGCCCCGCGCTCACCCCGGCCCCTGCCACGCAGGCAAGGAGGTGGGGGAGACGCTGCTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTACCGGGAGGAGCTGGCGCAGTTCCACAGGGACGGTGCGCTCACCCAGCTCAACGTGGCCTTCTCCCGGGAGCAGTCCCACAAGGTGAGACGGGCGGGCACCCACGAAGGTGGGCATGAGGCTGGCAGGGCCACAGCCACAGTGCCCCCCTCACAGCACCACCCTTGGCCCCAGGTCTACGTCCAGCACCTGCTAAAGCAAGACCGAGAGCACCTGTGGAAGTTGATCGAAGGCGGTGCCCACATCTACGTCTGTGGGTGAGTGAGTGGGGTCACTGGAATAGGGGGCAGGGAGGACAAGGCCCTGCCTGCCACAGTTGGCCCAGCCCCCAGCACCCCCTCTTCCTGCCCAGGGATGCACGGAACATGGCCAGGGATGTGCAGAACACCTTCTACGACATCGTGGCTGAGCTCGGGGCCATGGAGCACGCGCAGGCGGTGGACTACATCAAGAAACTGATGACCAAGGGCCGCTACTCCCTGGACGTGTGGAGCTAGGGGCCTGCCTGCCCCACCCACCCCACAGACTCCGGCCTGTAATCAGCTCTCCTGGCTCCCTCCCGTAGTCTCCTGGGTGTGTTTGGCTTGGCCTTGGCATGGGCGCAGGCCCAGTGACAAAGACTCCTCTGGGCCTGGGGTGCATCCTCCTCAGCCCCCAGGCCAGGTGAGGTCCACCGGCCCCTGGCAGCACAGCCCAGGGCCTGCATGGGGGCACCGGGCTCCATGCCTCTGGAGGCCTCTGGCCCTCGGTGGCTGCACAGAAGGGCTCTTTCTCTCTGCTGAGCTGGGCCCAGCCCCTCCACGTGATTTCCAGTGAGTGTAAATAATTTTAAATAACCTCTGGCCCTTGGAATAAAGTTCTGTTTTCTGTATTTGCCTGGTATTGTGTGAGTAGATCTGGGACCTCCACCTGCATCAACTTAACTAACTCAGACCCCAGGAACCCATGTGGTGGGGCCACCCAGCCCTCCCCTCCCCCAGGAGAACACACACGCTCAGGCCACCTCTGGGCCTCTCTTTATTGAGGGCACTGGGCCCAGGTCTTCCTTCAGGGCCCACAGCGCCCATAAAACCCAAGGGAGAATAGAAGAGACCCCCTGATACACGCACACTCGAGGGGCGCCTCCCATCCCCTCCCACAACACACAGGACAGAAGCCCCTCTGGGCCGGCAGGGGAAGGCCCAGCCTCAATCCTTCTTGCTCCCGTGCCGCTGACTGTGAAACTTGTGGTGCACAACCCTCAGGGTGGTGAAGAAATTGCCGAGGAAAAGGAGGAGGAAGGGAAAGCCGCACATAAGCACCTGCCGGAGGAATAGGGTGAGGGCTGGACATGGGCCTGGCCCCCCATCCATCCTGTCCAGGGACCCCGGCTCACCTGCCACTCCTTGCACTGAGGGTCCTGGGCCAGGTTGAACAACGTCAGCGCGTTAAAAAGCTGCCAGAACTAAGCAGGGAGGAGGCATTTTACTCAGAAGACCCAGTCCCTGCTGGAGCCCGAAACCGGCGCAGAGGACGGACAGACAGACAGGCAGGGACACAGAGGCACGACTTACGTGTCCAAAGAAAAGAAAAGGCAGCAGGAAGGTGAGGCCCCGCCACATCCAGGACTGGAAGCCCTCTGCGGGGAGGAAGGTCAGGGCACAGGACGGCCAGGGACAGAGGGGACGCTACCACTCAGACCCGGGATGGGAGGAAAGGGGAATGTCCAGATGCCAGGGCCACTCCCGACTCACCCACAGTGAGGTCCATGGTGTGCCGCTCGCCCAGCGCCCGCAGGCGGTAGAGGCAGCCGCTCTGGTAGTAGTACTGGAGAAACTGCACGAAGCCTGGGCCGGGCGGAGGACAGAGGAGCAGGGCT
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Task1_train_11263
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Located on Chromosome 7, this mutation impacts POR (cytochrome p450 oxidoreductase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
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TGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGTGCACATCTGTGCGGTGGTTGTGGAGTACGAGACCAAGGCTGGCCGCATCAACAAGGGCGTGGCCACCAACTGGCTGCGGGCCAAGGAGCCTGCCGGGGAGAACGGCGGCCGTGCGCTGGTGCCCATGTTCGTGCGCAAGTCCCAGTTCCGCCTGCCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGTGGCACCCTTCATAGGCTTCATCCAGGAGCGGGCCTGGCTGCGACAGCAGGGTGAGTGGGGTCCCATGGGGGAGAGGGGGTGACGACTGGGAGCCCCGCGCTCACCCCGGCCCCTGCCACGCAGGCAAGGAGGTGGGGGAGACGCTGCTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTACCGGGAGGAGCTGGCGCAGTTCCACAGGGACGGTGCGCTCACCCAGCTCAACGTGGCCTTCTCCCGGGAGCAGTCCCACAAGGTGAGACGGGCGGGCACCCACGAAGGTGGGCATGAGGCTGGCAGGGCCACAGCCACAGTGCCCCCCTCACAGCACCACCCTTGGCCCCAGGTCTACGTCCAGCACCTGCTAAAGCAAGACCGAGAGCACCTGTGGAAGTTGATCGAAGGCGGTGCCCACATCTACGTCTGTGGGTGAGTGAGTGGGGTCACTGGAATAGGGGGCAGGGAGGACAAGGCCCTGCCTGCCACAGTTGGCCCAGCCCCCAGCACCCCCTCTTCCTGCCCAGGGATGCACGGAACATGGCCAGGGATGTGCAGAACACCTTCTACGACATCGTGGCTGAGCTCGGGGCCATGGAGCACGCGCAGGCGGTGGACTACATCAAGAAACTGATGACCAAGGGCCGCTACTCCCTGGACGTGTGGAGCTAGGGGCCTGCCTGCCCCACCCACCCCACAGACTCCGGCCTGTAATCAGCTCTCCTGGCTCCCTCCCGTAGTCTCCTGGGTGTGTTTGGCTTGGCCTTGGCATGGGCGCAGGCCCAGTGACAAAGACTCCTCTGGGCCTGGGGTGCATCCTCCTCAGCCCCCAGGCCAGGTGAGGTCCACCGGCCCCTGGCAGCACAGCCCAGGGCCTGCATGGGGGCACCGGGCTCCATGCCTCTGGAGGCCTCTGGCCCTCGGTGGCTGCACAGAAGGGCTCTTTCTCTCTGCTGAGCTGGGCCCAGCCCCTCCACGTGATTTCCAGTGAGTGTAAATAATTTTAAATAACCTCTGGCCCTTGGAATAAAGTTCTGTTTTCTGTATTTGCCTGGTATTGTGTGAGTAGATCTGGGACCTCCACCTGCATCAACTTAACTAACTCAGACCCCAGGAACCCATGTGGTGGGGCCACCCAGCCCTCCCCTCCCCCAGGAGAACACACACGCTCAGGCCACCTCTGGGCCTCTCTTTATTGAGGGCACTGGGCCCAGGTCTTCCTTCAGGGCCCACAGCGCCCATAAAACCCAAGGGAGAATAGAAGAGACCCCCTGATACACGCACACTCGAGGGGCGCCTCCCATCCCCTCCCACAACACACAGGACAGAAGCCCCTCTGGGCCGGCAGGGGAAGGCCCAGCCTCAATCCTTCTTGCTCCCGTGCCGCTGACTGTGAAACTTGTGGTGCACAACCCTCAGGGTGGTGAAGAAATTGCCGAGGAAAAGGAGGAGGAAGGGAAAGCCGCACATAAGCACCTGCCGGAGGAATAGGGTGAGGGCTGGACATGGGCCTGGCCCCCCATCCATCCTGTCCAGGGACCCCGGCTCACCTGCCACTCCTTGCACTGAGGGTCCTGGGCCAGGTTGAACAACGTCAGCGCGTTAAAAAGCTGCCAGAACTAAGCAGGGAGGAGGCATTTTACTCAGAAGACCCAGTCCCTGCTGGAGCCCGAAACCGGCGCAGAGGACGGACAGACAGACAGGCAGGGACACAGAGGCACGACTTACGTGTCCAAAGAAAAGAAAAGGCAGCAGGAAGGTGAGGCCCCGCCACATCCAGGACTGGAAGCCCTCTGCGGGGAGGAAGGTCAGGGCACAGGACGGCCAGGGACAGAGGGGACGCTACCACTCAGACCCGGGATGGGAGGAAAGGGGAATGTCCAGATGCCAGGGCCACTCCCGACTCACCCACAGTGAGGTCCATGGTGTGCCGCTCGCCCAGCGCCCGCAGGCGGTAGAGGCAGCCGCTCTGGTAGTAGTACTGGAGAAACTGCACGAAGCCTGGGCCGGGCGGAGGACAGAGGAGCAGGGCT
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TGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGTGCACATCTGTGCGGTGGTTGTGGAGTACGAGACCAAGGCTGGCCGCATCAACAAGGGCGTGGCCACCAACTGGCTGCGGGCCAAGGAGCCTGCCGGGGAGAACGGCGGCCGTGCGCTGGTGCCCATGTTCGTGCGCAAGTCCCAGTTCCGCCTGCCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCAGGGTGGCACCCTTCATAGGCTTCATCCAGGAGCGGGCCTGGCTGCGACAGCAGGGTGAGTGGGGTCCCATGGGGGAGAGGGGGTGACGACTGGGAGCCCCGCGCTCACCCCGGCCCCTGCCACGCAGGCAAGGAGGTGGGGGAGACGCTGCTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTACCGGGAGGAGCTGGCGCAGTTCCACAGGGACGGTGCGCTCACCCAGCTCAACGTGGCCTTCTCCCGGGAGCAGTCCCACAAGGTGAGACGGGCGGGCACCCACGAAGGTGGGCATGAGGCTGGCAGGGCCACAGCCACAGTGCCCCCCTCACAGCACCACCCTTGGCCCCAGGTCTACGTCCAGCACCTGCTAAAGCAAGACCGAGAGCACCTGTGGAAGTTGATCGAAGGCGGTGCCCACATCTACGTCTGTGGGTGAGTGAGTGGGGTCACTGGAATAGGGGGCAGGGAGGACAAGGCCCTGCCTGCCACAGTTGGCCCAGCCCCCAGCACCCCCTCTTCCTGCCCAGGGATGCACGGAACATGGCCAGGGATGTGCAGAACACCTTCTACGACATCGTGGCTGAGCTCGGGGCCATGGAGCACGCGCAGGCGGTGGACTACATCAAGAAACTGATGACCAAGGGCCGCTACTCCCTGGACGTGTGGAGCTAGGGGCCTGCCTGCCCCACCCACCCCACAGACTCCGGCCTGTAATCAGCTCTCCTGGCTCCCTCCCGTAGTCTCCTGGGTGTGTTTGGCTTGGCCTTGGCATGGGCGCAGGCCCAGTGACAAAGACTCCTCTGGGCCTGGGGTGCATCCTCCTCAGCCCCCAGGCCAGGTGAGGTCCACCGGCCCCTGGCAGCACAGCCCAGGGCCTGCATGGGGGCACCGGGCTCCATGCCTCTGGAGGCCTCTGGCCCTCGGTGGCTGCACAGAAGGGCTCTTTCTCTCTGCTGAGCTGGGCCCAGCCCCTCCACGTGATTTCCAGTGAGTGTAAATAATTTTAAATAACCTCTGGCCCTTGGAATAAAGTTCTGTTTTCTGTATTTGCCTGGTATTGTGTGAGTAGATCTGGGACCTCCACCTGCATCAACTTAACTAACTCAGACCCCAGGAACCCATGTGGTGGGGCCACCCAGCCCTCCCCTCCCCCAGGAGAACACACACGCTCAGGCCACCTCTGGGCCTCTCTTTATTGAGGGCACTGGGCCCAGGTCTTCCTTCAGGGCCCACAGCGCCCATAAAACCCAAGGGAGAATAGAAGAGACCCCCTGATACACGCACACTCGAGGGGCGCCTCCCATCCCCTCCCACAACACACAGGACAGAAGCCCCTCTGGGCCGGCAGGGGAAGGCCCAGCCTCAATCCTTCTTGCTCCCGTGCCGCTGACTGTGAAACTTGTGGTGCACAACCCTCAGGGTGGTGAAGAAATTGCCGAGGAAAAGGAGGAGGAAGGGAAAGCCGCACATAAGCACCTGCCGGAGGAATAGGGTGAGGGCTGGACATGGGCCTGGCCCCCCATCCATCCTGTCCAGGGACCCCGGCTCACCTGCCACTCCTTGCACTGAGGGTCCTGGGCCAGGTTGAACAACGTCAGCGCGTTAAAAAGCTGCCAGAACTAAGCAGGGAGGAGGCATTTTACTCAGAAGACCCAGTCCCTGCTGGAGCCCGAAACCGGCGCAGAGGACGGACAGACAGACAGGCAGGGACACAGAGGCACGACTTACGTGTCCAAAGAAAAGAAAAGGCAGCAGGAAGGTGAGGCCCCGCCACATCCAGGACTGGAAGCCCTCTGCGGGGAGGAAGGTCAGGGCACAGGACGGCCAGGGACAGAGGGGACGCTACCACTCAGACCCGGGATGGGAGGAAAGGGGAATGTCCAGATGCCAGGGCCACTCCCGACTCACCCACAGTGAGGTCCATGGTGTGCCGCTCGCCCAGCGCCCGCAGGCGGTAGAGGCAGCCGCTCTGGTAGTAGTACTGGAGAAACTGCACGAAGCCTGGGCCGGGCGGAGGACAGAGGAGCAGGGCT
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Task1_train_11264
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A mutation found in POR (cytochrome p450 oxidoreductase) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Congenital adrenal hyperplasia
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TGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGTGCACATCTGTGCGGTGGTTGTGGAGTACGAGACCAAGGCTGGCCGCATCAACAAGGGCGTGGCCACCAACTGGCTGCGGGCCAAGGAGCCTGCCGGGGAGAACGGCGGCCGTGCGCTGGTGCCCATGTTCGTGCGCAAGTCCCAGTTCCGCCTGCCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGTGGCACCCTTCATAGGCTTCATCCAGGAGCGGGCCTGGCTGCGACAGCAGGGTGAGTGGGGTCCCATGGGGGAGAGGGGGTGACGACTGGGAGCCCCGCGCTCACCCCGGCCCCTGCCACGCAGGCAAGGAGGTGGGGGAGACGCTGCTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTACCGGGAGGAGCTGGCGCAGTTCCACAGGGACGGTGCGCTCACCCAGCTCAACGTGGCCTTCTCCCGGGAGCAGTCCCACAAGGTGAGACGGGCGGGCACCCACGAAGGTGGGCATGAGGCTGGCAGGGCCACAGCCACAGTGCCCCCCTCACAGCACCACCCTTGGCCCCAGGTCTACGTCCAGCACCTGCTAAAGCAAGACCGAGAGCACCTGTGGAAGTTGATCGAAGGCGGTGCCCACATCTACGTCTGTGGGTGAGTGAGTGGGGTCACTGGAATAGGGGGCAGGGAGGACAAGGCCCTGCCTGCCACAGTTGGCCCAGCCCCCAGCACCCCCTCTTCCTGCCCAGGGATGCACGGAACATGGCCAGGGATGTGCAGAACACCTTCTACGACATCGTGGCTGAGCTCGGGGCCATGGAGCACGCGCAGGCGGTGGACTACATCAAGAAACTGATGACCAAGGGCCGCTACTCCCTGGACGTGTGGAGCTAGGGGCCTGCCTGCCCCACCCACCCCACAGACTCCGGCCTGTAATCAGCTCTCCTGGCTCCCTCCCGTAGTCTCCTGGGTGTGTTTGGCTTGGCCTTGGCATGGGCGCAGGCCCAGTGACAAAGACTCCTCTGGGCCTGGGGTGCATCCTCCTCAGCCCCCAGGCCAGGTGAGGTCCACCGGCCCCTGGCAGCACAGCCCAGGGCCTGCATGGGGGCACCGGGCTCCATGCCTCTGGAGGCCTCTGGCCCTCGGTGGCTGCACAGAAGGGCTCTTTCTCTCTGCTGAGCTGGGCCCAGCCCCTCCACGTGATTTCCAGTGAGTGTAAATAATTTTAAATAACCTCTGGCCCTTGGAATAAAGTTCTGTTTTCTGTATTTGCCTGGTATTGTGTGAGTAGATCTGGGACCTCCACCTGCATCAACTTAACTAACTCAGACCCCAGGAACCCATGTGGTGGGGCCACCCAGCCCTCCCCTCCCCCAGGAGAACACACACGCTCAGGCCACCTCTGGGCCTCTCTTTATTGAGGGCACTGGGCCCAGGTCTTCCTTCAGGGCCCACAGCGCCCATAAAACCCAAGGGAGAATAGAAGAGACCCCCTGATACACGCACACTCGAGGGGCGCCTCCCATCCCCTCCCACAACACACAGGACAGAAGCCCCTCTGGGCCGGCAGGGGAAGGCCCAGCCTCAATCCTTCTTGCTCCCGTGCCGCTGACTGTGAAACTTGTGGTGCACAACCCTCAGGGTGGTGAAGAAATTGCCGAGGAAAAGGAGGAGGAAGGGAAAGCCGCACATAAGCACCTGCCGGAGGAATAGGGTGAGGGCTGGACATGGGCCTGGCCCCCCATCCATCCTGTCCAGGGACCCCGGCTCACCTGCCACTCCTTGCACTGAGGGTCCTGGGCCAGGTTGAACAACGTCAGCGCGTTAAAAAGCTGCCAGAACTAAGCAGGGAGGAGGCATTTTACTCAGAAGACCCAGTCCCTGCTGGAGCCCGAAACCGGCGCAGAGGACGGACAGACAGACAGGCAGGGACACAGAGGCACGACTTACGTGTCCAAAGAAAAGAAAAGGCAGCAGGAAGGTGAGGCCCCGCCACATCCAGGACTGGAAGCCCTCTGCGGGGAGGAAGGTCAGGGCACAGGACGGCCAGGGACAGAGGGGACGCTACCACTCAGACCCGGGATGGGAGGAAAGGGGAATGTCCAGATGCCAGGGCCACTCCCGACTCACCCACAGTGAGGTCCATGGTGTGCCGCTCGCCCAGCGCCCGCAGGCGGTAGAGGCAGCCGCTCTGGTAGTAGTACTGGAGAAACTGCACGAAGCCTGGGCCGGGCGGAGGACAGAGGAGCAGGGCT
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TGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGTGCACATCTGTGCGGTGGTTGTGGAGTACGAGACCAAGGCTGGCCGCATCAACAAGGGCGTGGCCACCAACTGGCTGCGGGCCAAGGAGCCTGCCGGGGAGAACGGCGGCCGTGCGCTGGTGCCCATGTTCGTGCGCAAGTCCCAGTTCCGCCTGCCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCAGGGTGGCACCCTTCATAGGCTTCATCCAGGAGCGGGCCTGGCTGCGACAGCAGGGTGAGTGGGGTCCCATGGGGGAGAGGGGGTGACGACTGGGAGCCCCGCGCTCACCCCGGCCCCTGCCACGCAGGCAAGGAGGTGGGGGAGACGCTGCTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTACCGGGAGGAGCTGGCGCAGTTCCACAGGGACGGTGCGCTCACCCAGCTCAACGTGGCCTTCTCCCGGGAGCAGTCCCACAAGGTGAGACGGGCGGGCACCCACGAAGGTGGGCATGAGGCTGGCAGGGCCACAGCCACAGTGCCCCCCTCACAGCACCACCCTTGGCCCCAGGTCTACGTCCAGCACCTGCTAAAGCAAGACCGAGAGCACCTGTGGAAGTTGATCGAAGGCGGTGCCCACATCTACGTCTGTGGGTGAGTGAGTGGGGTCACTGGAATAGGGGGCAGGGAGGACAAGGCCCTGCCTGCCACAGTTGGCCCAGCCCCCAGCACCCCCTCTTCCTGCCCAGGGATGCACGGAACATGGCCAGGGATGTGCAGAACACCTTCTACGACATCGTGGCTGAGCTCGGGGCCATGGAGCACGCGCAGGCGGTGGACTACATCAAGAAACTGATGACCAAGGGCCGCTACTCCCTGGACGTGTGGAGCTAGGGGCCTGCCTGCCCCACCCACCCCACAGACTCCGGCCTGTAATCAGCTCTCCTGGCTCCCTCCCGTAGTCTCCTGGGTGTGTTTGGCTTGGCCTTGGCATGGGCGCAGGCCCAGTGACAAAGACTCCTCTGGGCCTGGGGTGCATCCTCCTCAGCCCCCAGGCCAGGTGAGGTCCACCGGCCCCTGGCAGCACAGCCCAGGGCCTGCATGGGGGCACCGGGCTCCATGCCTCTGGAGGCCTCTGGCCCTCGGTGGCTGCACAGAAGGGCTCTTTCTCTCTGCTGAGCTGGGCCCAGCCCCTCCACGTGATTTCCAGTGAGTGTAAATAATTTTAAATAACCTCTGGCCCTTGGAATAAAGTTCTGTTTTCTGTATTTGCCTGGTATTGTGTGAGTAGATCTGGGACCTCCACCTGCATCAACTTAACTAACTCAGACCCCAGGAACCCATGTGGTGGGGCCACCCAGCCCTCCCCTCCCCCAGGAGAACACACACGCTCAGGCCACCTCTGGGCCTCTCTTTATTGAGGGCACTGGGCCCAGGTCTTCCTTCAGGGCCCACAGCGCCCATAAAACCCAAGGGAGAATAGAAGAGACCCCCTGATACACGCACACTCGAGGGGCGCCTCCCATCCCCTCCCACAACACACAGGACAGAAGCCCCTCTGGGCCGGCAGGGGAAGGCCCAGCCTCAATCCTTCTTGCTCCCGTGCCGCTGACTGTGAAACTTGTGGTGCACAACCCTCAGGGTGGTGAAGAAATTGCCGAGGAAAAGGAGGAGGAAGGGAAAGCCGCACATAAGCACCTGCCGGAGGAATAGGGTGAGGGCTGGACATGGGCCTGGCCCCCCATCCATCCTGTCCAGGGACCCCGGCTCACCTGCCACTCCTTGCACTGAGGGTCCTGGGCCAGGTTGAACAACGTCAGCGCGTTAAAAAGCTGCCAGAACTAAGCAGGGAGGAGGCATTTTACTCAGAAGACCCAGTCCCTGCTGGAGCCCGAAACCGGCGCAGAGGACGGACAGACAGACAGGCAGGGACACAGAGGCACGACTTACGTGTCCAAAGAAAAGAAAAGGCAGCAGGAAGGTGAGGCCCCGCCACATCCAGGACTGGAAGCCCTCTGCGGGGAGGAAGGTCAGGGCACAGGACGGCCAGGGACAGAGGGGACGCTACCACTCAGACCCGGGATGGGAGGAAAGGGGAATGTCCAGATGCCAGGGCCACTCCCGACTCACCCACAGTGAGGTCCATGGTGTGCCGCTCGCCCAGCGCCCGCAGGCGGTAGAGGCAGCCGCTCTGGTAGTAGTACTGGAGAAACTGCACGAAGCCTGGGCCGGGCGGAGGACAGAGGAGCAGGGCT
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Task1_train_11265
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The gene POR (cytochrome p450 oxidoreductase) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
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TGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGTGCACATCTGTGCGGTGGTTGTGGAGTACGAGACCAAGGCTGGCCGCATCAACAAGGGCGTGGCCACCAACTGGCTGCGGGCCAAGGAGCCTGCCGGGGAGAACGGCGGCCGTGCGCTGGTGCCCATGTTCGTGCGCAAGTCCCAGTTCCGCCTGCCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGTGGCACCCTTCATAGGCTTCATCCAGGAGCGGGCCTGGCTGCGACAGCAGGGTGAGTGGGGTCCCATGGGGGAGAGGGGGTGACGACTGGGAGCCCCGCGCTCACCCCGGCCCCTGCCACGCAGGCAAGGAGGTGGGGGAGACGCTGCTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTACCGGGAGGAGCTGGCGCAGTTCCACAGGGACGGTGCGCTCACCCAGCTCAACGTGGCCTTCTCCCGGGAGCAGTCCCACAAGGTGAGACGGGCGGGCACCCACGAAGGTGGGCATGAGGCTGGCAGGGCCACAGCCACAGTGCCCCCCTCACAGCACCACCCTTGGCCCCAGGTCTACGTCCAGCACCTGCTAAAGCAAGACCGAGAGCACCTGTGGAAGTTGATCGAAGGCGGTGCCCACATCTACGTCTGTGGGTGAGTGAGTGGGGTCACTGGAATAGGGGGCAGGGAGGACAAGGCCCTGCCTGCCACAGTTGGCCCAGCCCCCAGCACCCCCTCTTCCTGCCCAGGGATGCACGGAACATGGCCAGGGATGTGCAGAACACCTTCTACGACATCGTGGCTGAGCTCGGGGCCATGGAGCACGCGCAGGCGGTGGACTACATCAAGAAACTGATGACCAAGGGCCGCTACTCCCTGGACGTGTGGAGCTAGGGGCCTGCCTGCCCCACCCACCCCACAGACTCCGGCCTGTAATCAGCTCTCCTGGCTCCCTCCCGTAGTCTCCTGGGTGTGTTTGGCTTGGCCTTGGCATGGGCGCAGGCCCAGTGACAAAGACTCCTCTGGGCCTGGGGTGCATCCTCCTCAGCCCCCAGGCCAGGTGAGGTCCACCGGCCCCTGGCAGCACAGCCCAGGGCCTGCATGGGGGCACCGGGCTCCATGCCTCTGGAGGCCTCTGGCCCTCGGTGGCTGCACAGAAGGGCTCTTTCTCTCTGCTGAGCTGGGCCCAGCCCCTCCACGTGATTTCCAGTGAGTGTAAATAATTTTAAATAACCTCTGGCCCTTGGAATAAAGTTCTGTTTTCTGTATTTGCCTGGTATTGTGTGAGTAGATCTGGGACCTCCACCTGCATCAACTTAACTAACTCAGACCCCAGGAACCCATGTGGTGGGGCCACCCAGCCCTCCCCTCCCCCAGGAGAACACACACGCTCAGGCCACCTCTGGGCCTCTCTTTATTGAGGGCACTGGGCCCAGGTCTTCCTTCAGGGCCCACAGCGCCCATAAAACCCAAGGGAGAATAGAAGAGACCCCCTGATACACGCACACTCGAGGGGCGCCTCCCATCCCCTCCCACAACACACAGGACAGAAGCCCCTCTGGGCCGGCAGGGGAAGGCCCAGCCTCAATCCTTCTTGCTCCCGTGCCGCTGACTGTGAAACTTGTGGTGCACAACCCTCAGGGTGGTGAAGAAATTGCCGAGGAAAAGGAGGAGGAAGGGAAAGCCGCACATAAGCACCTGCCGGAGGAATAGGGTGAGGGCTGGACATGGGCCTGGCCCCCCATCCATCCTGTCCAGGGACCCCGGCTCACCTGCCACTCCTTGCACTGAGGGTCCTGGGCCAGGTTGAACAACGTCAGCGCGTTAAAAAGCTGCCAGAACTAAGCAGGGAGGAGGCATTTTACTCAGAAGACCCAGTCCCTGCTGGAGCCCGAAACCGGCGCAGAGGACGGACAGACAGACAGGCAGGGACACAGAGGCACGACTTACGTGTCCAAAGAAAAGAAAAGGCAGCAGGAAGGTGAGGCCCCGCCACATCCAGGACTGGAAGCCCTCTGCGGGGAGGAAGGTCAGGGCACAGGACGGCCAGGGACAGAGGGGACGCTACCACTCAGACCCGGGATGGGAGGAAAGGGGAATGTCCAGATGCCAGGGCCACTCCCGACTCACCCACAGTGAGGTCCATGGTGTGCCGCTCGCCCAGCGCCCGCAGGCGGTAGAGGCAGCCGCTCTGGTAGTAGTACTGGAGAAACTGCACGAAGCCTGGGCCGGGCGGAGGACAGAGGAGCAGGGCTGAGCCCCGGGAGGGGTTCCCTGCCCCTGCCCCCCACCACGGGTGCCTCCAGGGCTCAGCACAGACATCTGGGACACTCACTCTGGTACATGGAAAAGGAGAGGAATTGGTTCCGGAATTTCTGGTACATGAGACCGTCGGGCCTAAGGTAAAAAGTGGAGGGCAGTGTGGGGACCCTTGGGGATGCCGTGT
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TGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGTGCACATCTGTGCGGTGGTTGTGGAGTACGAGACCAAGGCTGGCCGCATCAACAAGGGCGTGGCCACCAACTGGCTGCGGGCCAAGGAGCCTGCCGGGGAGAACGGCGGCCGTGCGCTGGTGCCCATGTTCGTGCGCAAGTCCCAGTTCCGCCTGCCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGTGGCACCCTTCATAGGCTTCATCCAGGAGCGGGCCTGGCTGCGACAGCAGGGTGAGTGGGGTCCCATGGGGGAGAGGGGGTGACGACTGGGAGCCCCGCGCTCACCCCGGCCCCTGCCACGCAGGCAAGGAGGTGGGGGAGACGCTGCTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTGCCGGGAGGAGCTGGCGCAGTTCCACAGGGACGGTGCGCTCACCCAGCTCAACGTGGCCTTCTCCCGGGAGCAGTCCCACAAGGTGAGACGGGCGGGCACCCACGAAGGTGGGCATGAGGCTGGCAGGGCCACAGCCACAGTGCCCCCCTCACAGCACCACCCTTGGCCCCAGGTCTACGTCCAGCACCTGCTAAAGCAAGACCGAGAGCACCTGTGGAAGTTGATCGAAGGCGGTGCCCACATCTACGTCTGTGGGTGAGTGAGTGGGGTCACTGGAATAGGGGGCAGGGAGGACAAGGCCCTGCCTGCCACAGTTGGCCCAGCCCCCAGCACCCCCTCTTCCTGCCCAGGGATGCACGGAACATGGCCAGGGATGTGCAGAACACCTTCTACGACATCGTGGCTGAGCTCGGGGCCATGGAGCACGCGCAGGCGGTGGACTACATCAAGAAACTGATGACCAAGGGCCGCTACTCCCTGGACGTGTGGAGCTAGGGGCCTGCCTGCCCCACCCACCCCACAGACTCCGGCCTGTAATCAGCTCTCCTGGCTCCCTCCCGTAGTCTCCTGGGTGTGTTTGGCTTGGCCTTGGCATGGGCGCAGGCCCAGTGACAAAGACTCCTCTGGGCCTGGGGTGCATCCTCCTCAGCCCCCAGGCCAGGTGAGGTCCACCGGCCCCTGGCAGCACAGCCCAGGGCCTGCATGGGGGCACCGGGCTCCATGCCTCTGGAGGCCTCTGGCCCTCGGTGGCTGCACAGAAGGGCTCTTTCTCTCTGCTGAGCTGGGCCCAGCCCCTCCACGTGATTTCCAGTGAGTGTAAATAATTTTAAATAACCTCTGGCCCTTGGAATAAAGTTCTGTTTTCTGTATTTGCCTGGTATTGTGTGAGTAGATCTGGGACCTCCACCTGCATCAACTTAACTAACTCAGACCCCAGGAACCCATGTGGTGGGGCCACCCAGCCCTCCCCTCCCCCAGGAGAACACACACGCTCAGGCCACCTCTGGGCCTCTCTTTATTGAGGGCACTGGGCCCAGGTCTTCCTTCAGGGCCCACAGCGCCCATAAAACCCAAGGGAGAATAGAAGAGACCCCCTGATACACGCACACTCGAGGGGCGCCTCCCATCCCCTCCCACAACACACAGGACAGAAGCCCCTCTGGGCCGGCAGGGGAAGGCCCAGCCTCAATCCTTCTTGCTCCCGTGCCGCTGACTGTGAAACTTGTGGTGCACAACCCTCAGGGTGGTGAAGAAATTGCCGAGGAAAAGGAGGAGGAAGGGAAAGCCGCACATAAGCACCTGCCGGAGGAATAGGGTGAGGGCTGGACATGGGCCTGGCCCCCCATCCATCCTGTCCAGGGACCCCGGCTCACCTGCCACTCCTTGCACTGAGGGTCCTGGGCCAGGTTGAACAACGTCAGCGCGTTAAAAAGCTGCCAGAACTAAGCAGGGAGGAGGCATTTTACTCAGAAGACCCAGTCCCTGCTGGAGCCCGAAACCGGCGCAGAGGACGGACAGACAGACAGGCAGGGACACAGAGGCACGACTTACGTGTCCAAAGAAAAGAAAAGGCAGCAGGAAGGTGAGGCCCCGCCACATCCAGGACTGGAAGCCCTCTGCGGGGAGGAAGGTCAGGGCACAGGACGGCCAGGGACAGAGGGGACGCTACCACTCAGACCCGGGATGGGAGGAAAGGGGAATGTCCAGATGCCAGGGCCACTCCCGACTCACCCACAGTGAGGTCCATGGTGTGCCGCTCGCCCAGCGCCCGCAGGCGGTAGAGGCAGCCGCTCTGGTAGTAGTACTGGAGAAACTGCACGAAGCCTGGGCCGGGCGGAGGACAGAGGAGCAGGGCTGAGCCCCGGGAGGGGTTCCCTGCCCCTGCCCCCCACCACGGGTGCCTCCAGGGCTCAGCACAGACATCTGGGACACTCACTCTGGTACATGGAAAAGGAGAGGAATTGGTTCCGGAATTTCTGGTACATGAGACCGTCGGGCCTAAGGTAAAAAGTGGAGGGCAGTGTGGGGACCCTTGGGGATGCCGTGT
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Task1_train_11266
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Given this context: Chromosome 7, gene POR (cytochrome p450 oxidoreductase) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
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GAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGTGCACATCTGTGCGGTGGTTGTGGAGTACGAGACCAAGGCTGGCCGCATCAACAAGGGCGTGGCCACCAACTGGCTGCGGGCCAAGGAGCCTGCCGGGGAGAACGGCGGCCGTGCGCTGGTGCCCATGTTCGTGCGCAAGTCCCAGTTCCGCCTGCCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGTGGCACCCTTCATAGGCTTCATCCAGGAGCGGGCCTGGCTGCGACAGCAGGGTGAGTGGGGTCCCATGGGGGAGAGGGGGTGACGACTGGGAGCCCCGCGCTCACCCCGGCCCCTGCCACGCAGGCAAGGAGGTGGGGGAGACGCTGCTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTACCGGGAGGAGCTGGCGCAGTTCCACAGGGACGGTGCGCTCACCCAGCTCAACGTGGCCTTCTCCCGGGAGCAGTCCCACAAGGTGAGACGGGCGGGCACCCACGAAGGTGGGCATGAGGCTGGCAGGGCCACAGCCACAGTGCCCCCCTCACAGCACCACCCTTGGCCCCAGGTCTACGTCCAGCACCTGCTAAAGCAAGACCGAGAGCACCTGTGGAAGTTGATCGAAGGCGGTGCCCACATCTACGTCTGTGGGTGAGTGAGTGGGGTCACTGGAATAGGGGGCAGGGAGGACAAGGCCCTGCCTGCCACAGTTGGCCCAGCCCCCAGCACCCCCTCTTCCTGCCCAGGGATGCACGGAACATGGCCAGGGATGTGCAGAACACCTTCTACGACATCGTGGCTGAGCTCGGGGCCATGGAGCACGCGCAGGCGGTGGACTACATCAAGAAACTGATGACCAAGGGCCGCTACTCCCTGGACGTGTGGAGCTAGGGGCCTGCCTGCCCCACCCACCCCACAGACTCCGGCCTGTAATCAGCTCTCCTGGCTCCCTCCCGTAGTCTCCTGGGTGTGTTTGGCTTGGCCTTGGCATGGGCGCAGGCCCAGTGACAAAGACTCCTCTGGGCCTGGGGTGCATCCTCCTCAGCCCCCAGGCCAGGTGAGGTCCACCGGCCCCTGGCAGCACAGCCCAGGGCCTGCATGGGGGCACCGGGCTCCATGCCTCTGGAGGCCTCTGGCCCTCGGTGGCTGCACAGAAGGGCTCTTTCTCTCTGCTGAGCTGGGCCCAGCCCCTCCACGTGATTTCCAGTGAGTGTAAATAATTTTAAATAACCTCTGGCCCTTGGAATAAAGTTCTGTTTTCTGTATTTGCCTGGTATTGTGTGAGTAGATCTGGGACCTCCACCTGCATCAACTTAACTAACTCAGACCCCAGGAACCCATGTGGTGGGGCCACCCAGCCCTCCCCTCCCCCAGGAGAACACACACGCTCAGGCCACCTCTGGGCCTCTCTTTATTGAGGGCACTGGGCCCAGGTCTTCCTTCAGGGCCCACAGCGCCCATAAAACCCAAGGGAGAATAGAAGAGACCCCCTGATACACGCACACTCGAGGGGCGCCTCCCATCCCCTCCCACAACACACAGGACAGAAGCCCCTCTGGGCCGGCAGGGGAAGGCCCAGCCTCAATCCTTCTTGCTCCCGTGCCGCTGACTGTGAAACTTGTGGTGCACAACCCTCAGGGTGGTGAAGAAATTGCCGAGGAAAAGGAGGAGGAAGGGAAAGCCGCACATAAGCACCTGCCGGAGGAATAGGGTGAGGGCTGGACATGGGCCTGGCCCCCCATCCATCCTGTCCAGGGACCCCGGCTCACCTGCCACTCCTTGCACTGAGGGTCCTGGGCCAGGTTGAACAACGTCAGCGCGTTAAAAAGCTGCCAGAACTAAGCAGGGAGGAGGCATTTTACTCAGAAGACCCAGTCCCTGCTGGAGCCCGAAACCGGCGCAGAGGACGGACAGACAGACAGGCAGGGACACAGAGGCACGACTTACGTGTCCAAAGAAAAGAAAAGGCAGCAGGAAGGTGAGGCCCCGCCACATCCAGGACTGGAAGCCCTCTGCGGGGAGGAAGGTCAGGGCACAGGACGGCCAGGGACAGAGGGGACGCTACCACTCAGACCCGGGATGGGAGGAAAGGGGAATGTCCAGATGCCAGGGCCACTCCCGACTCACCCACAGTGAGGTCCATGGTGTGCCGCTCGCCCAGCGCCCGCAGGCGGTAGAGGCAGCCGCTCTGGTAGTAGTACTGGAGAAACTGCACGAAGCCTGGGCCGGGCGGAGGACAGAGGAGCAGGGCTGAGCCCCGGGAGGGGTTCCCTGCCCCTGCCCCCCACCACGGGTGCCTCCAGGGCTCAGCACAGACATCTGGGACACTCACTCTGGTACATGGAAAAGGAGAGGAATTGGTTCCGGAATTTCTGGTACATGAGACCGTCGGGCCTAAGGTAAAAAGTGGAGGGCAGTGTGGGGACCCTTGGGGATGCCGTGTATCCCCTCCTTGTCCCAGCTCCTGCCCCTGCCGGGGCCCAGCCACTCACCACGTCAGCATGACTCCCGACAGGAAGGTGGACACGTAGTGATGGAACACCCACCAGCCTTTGATCCTGGAGCAGAGAGCCACCATCACCCCCAGCGCCTGTTCCTGCTTCCCGGAGGGTCCTGGCACCC
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GAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTTACTGTCGGCTTCCACAGCCCGCCTGTAGGGAAGCCTGGGCGGGGCTGTGTCAGACCGTGTAGTGTGCGGTGAAAGCACAGCGGGTGCGTTAGTGTGCAGGGGCTCCCCCGCACCTCCCCTAGCAGGGTCCTGCCTCTGATGAGGACTTCCTGTCTGGTTGGAGGCCCCAGACTTGGCCCCAGGGCCAGGGAGGCATCAGAGAGCATAGGCCTTGTTTCCAGCACCAGCTGGGGCACCTGTTGCCGCAGAGCTGGCCCAAGGTGTCACCCCCTCCTGCCGCAGCCACCCATCCCCAGGAGGCGGCCGCCTACCCCAAGTCCTGCCTGTCTCTTCCCTGCAGAGGAGTCCAACAAGAAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGTGCGCCCCCTCAGCCCCCGCAACCTCCGCCCCGTCACCCCGCCGTTTTCCGAGCTCCGTGGGCCCCAATCAGCCCCATCTCACCCCCGTGTCTCTTAGGAGCTGTACCTGAGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGTGAGGGCCGGCACTGCCCTGCCAGCCACACGCTGGAGGCCCAGCCCTGCTCACAGCAGGCAGAGTGCAAGGCGGCACAGGAGCTCCGAGATCTGAGCCCTGAGCTCCAGTTCCAGCCCCAGCGCAGCTCCAAATGCCTCCCCAGGCTGTGGACTCAGTCGGGCTGGCTTGTGAGATTCTCAGCATCTGTCCAGCCCCGGTCCCCAGAACCAGTCCGGGAAGCCGCTGGGGAGGGGGCCTCTGAGGTTTGGGTGCCAGGTGGGCTGGAAGAGGCCCTGGGTGAGTGGGGCTGGCCTGCAGAACGGGACTTGGGGCCGGGGCTGGGCAAGGGCCTCGGTGTGGCGGTGGAGCTCACACGGCCCTCCCCACAGGTCCACCCCAACTCTGTGCACATCTGTGCGGTGGTTGTGGAGTACGAGACCAAGGCTGGCCGCATCAACAAGGGCGTGGCCACCAACTGGCTGCGGGCCAAGGAGCCTGCCGGGGAGAACGGCGGCCGTGCGCTGGTGCCCATGTTCGTGCGCAAGTCCCAGTTCCGCCTGCCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGTGGCACCCTTCATAGGCTTCATCCAGGAGCGGGCCTGGCTGCGACAGCAGGGTGAGTGGGGTCCCATGGGGGAGAGGGGGTGACGACTGGGAGCCCCGCGCTCACCCCGGCCCCTGCCACGCAGGCAAGGAGGTGGGGGAGACGCTGCTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTACCGGGAGGAGCTGGCGCAGTTCCACAGGGACGGTGCGCTCACCCAGCTCAACGTGGCCTTCTCCCGGGAGCAGTCCCACAAGGTGAGACGGGCGGGCACCCACGAAGGTGGGCATGAGGCTGGCAGGGCCACAGCCACAGTGCCCCCCTCACAGCACCACCCTTGGCCCCAGGTCTACTTCCAGCACCTGCTAAAGCAAGACCGAGAGCACCTGTGGAAGTTGATCGAAGGCGGTGCCCACATCTACGTCTGTGGGTGAGTGAGTGGGGTCACTGGAATAGGGGGCAGGGAGGACAAGGCCCTGCCTGCCACAGTTGGCCCAGCCCCCAGCACCCCCTCTTCCTGCCCAGGGATGCACGGAACATGGCCAGGGATGTGCAGAACACCTTCTACGACATCGTGGCTGAGCTCGGGGCCATGGAGCACGCGCAGGCGGTGGACTACATCAAGAAACTGATGACCAAGGGCCGCTACTCCCTGGACGTGTGGAGCTAGGGGCCTGCCTGCCCCACCCACCCCACAGACTCCGGCCTGTAATCAGCTCTCCTGGCTCCCTCCCGTAGTCTCCTGGGTGTGTTTGGCTTGGCCTTGGCATGGGCGCAGGCCCAGTGACAAAGACTCCTCTGGGCCTGGGGTGCATCCTCCTCAGCCCCCAGGCCAGGTGAGGTCCACCGGCCCCTGGCAGCACAGCCCAGGGCCTGCATGGGGGCACCGGGCTCCATGCCTCTGGAGGCCTCTGGCCCTCGGTGGCTGCACAGAAGGGCTCTTTCTCTCTGCTGAGCTGGGCCCAGCCCCTCCACGTGATTTCCAGTGAGTGTAAATAATTTTAAATAACCTCTGGCCCTTGGAATAAAGTTCTGTTTTCTGTATTTGCCTGGTATTGTGTGAGTAGATCTGGGACCTCCACCTGCATCAACTTAACTAACTCAGACCCCAGGAACCCATGTGGTGGGGCCACCCAGCCCTCCCCTCCCCCAGGAGAACACACACGCTCAGGCCACCTCTGGGCCTCTCTTTATTGAGGGCACTGGGCCCAGGTCTTCCTTCAGGGCCCACAGCGCCCATAAAACCCAAGGGAGAATAGAAGAGACCCCCTGATACACGCACACTCGAGGGGCGCCTCCCATCCCCTCCCACAACACACAGGACAGAAGCCCCTCTGGGCCGGCAGGGGAAGGCCCAGCCTCAATCCTTCTTGCTCCCGTGCCGCTGACTGTGAAACTTGTGGTGCACAACCCTCAGGGTGGTGAAGAAATTGCCGAGGAAAAGGAGGAGGAAGGGAAAGCCGCACATAAGCACCTGCCGGAGGAATAGGGTGAGGGCTGGACATGGGCCTGGCCCCCCATCCATCCTGTCCAGGGACCCCGGCTCACCTGCCACTCCTTGCACTGAGGGTCCTGGGCCAGGTTGAACAACGTCAGCGCGTTAAAAAGCTGCCAGAACTAAGCAGGGAGGAGGCATTTTACTCAGAAGACCCAGTCCCTGCTGGAGCCCGAAACCGGCGCAGAGGACGGACAGACAGACAGGCAGGGACACAGAGGCACGACTTACGTGTCCAAAGAAAAGAAAAGGCAGCAGGAAGGTGAGGCCCCGCCACATCCAGGACTGGAAGCCCTCTGCGGGGAGGAAGGTCAGGGCACAGGACGGCCAGGGACAGAGGGGACGCTACCACTCAGACCCGGGATGGGAGGAAAGGGGAATGTCCAGATGCCAGGGCCACTCCCGACTCACCCACAGTGAGGTCCATGGTGTGCCGCTCGCCCAGCGCCCGCAGGCGGTAGAGGCAGCCGCTCTGGTAGTAGTACTGGAGAAACTGCACGAAGCCTGGGCCGGGCGGAGGACAGAGGAGCAGGGCTGAGCCCCGGGAGGGGTTCCCTGCCCCTGCCCCCCACCACGGGTGCCTCCAGGGCTCAGCACAGACATCTGGGACACTCACTCTGGTACATGGAAAAGGAGAGGAATTGGTTCCGGAATTTCTGGTACATGAGACCGTCGGGCCTAAGGTAAAAAGTGGAGGGCAGTGTGGGGACCCTTGGGGATGCCGTGTATCCCCTCCTTGTCCCAGCTCCTGCCCCTGCCGGGGCCCAGCCACTCACCACGTCAGCATGACTCCCGACAGGAAGGTGGACACGTAGTGATGGAACACCCACCAGCCTTTGATCCTGGAGCAGAGAGCCACCATCACCCCCAGCGCCTGTTCCTGCTTCCCGGAGGGTCCTGGCACCC
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Task1_train_11267
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Mutation context: Chromosome 7, Gene MDH2 (malate dehydrogenase 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Developmental and epileptic encephalopathy, 51
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GAGCCACCACGCCCAGCCCAGAAGATATTTTTTTAAAGAGATGGAATCTTGCTCTGTTTCCCAGGCTGGAATGCAATGGCGCCATCATGGCTCACGGCAGCCTCAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTTCTGAGTAGCTGGGACTACAGGTGCATACCACCATGCCAGCCTGAGCACGAGAGTGAAATGATTAAGACTTTGATTTTGGGAAAGCATGCTTTGGAGGTGTTGCTGAGTACCTAAGTTAGATAACGGAATAGAATGAAGAGGAGGAGCGGGTTGGGAGGGTGGTTGAGCTGCCAAGTTCTTCATGTCCTGACTTGATGTCTCTGATAAGAAGGAGGTGGCAGAAGATGGTTCTAGAAGTTTACATTTAGTGAACACAAGTGCCATTTGGGACCAGGGATGGAGGGAGGGGGGCAGGATAAATGGACAGTTGAGTTTGTGGAACCCATGGAACGCCTAACAGAACTGGGAATGCAGAGCTGGGATTTGGGAGTCCCTGAGACTCACACAAGATGTGGGAGTGAGAGCTGAAGATCCAGAAGTGGGTGAGGCTGAGCCTGCCCGACCTCAGGTTCTGAGCGGGTCTGACAGGTTCAAGTTTCCAGGCAGCCAGGGGTTCACCTTTAAAGCACCAACTTGAAACTCAAAAACCTGTTTGAATTCAAATGTTGGTTGTATATGCTTCCACAGTTTAATTTCCTGAGCAGAAACCCACTGGGTAAGCGTCTTGATTCGGATTTTGGTTTGTTGGGTTTTGGTTTCTGATAACCAAAGCCTGTTATTAGCTGGCCTCAGCTACTGTAGAAGACTGTGCAGTGATGCTGTCAGGCCCCAGATGACCACACACGGTGCCGAGAGTTCCCGTGTCTGCCACTTTGTTTGCCTCTTCCCTCACTGGTAGCTGCCTGCCTGCCTGCCTGCCAGGGATCGGCTGTGCTTCTCATTTGTGAGTTTAGATCAGAAACAAGCTCCCTGGGTATGGCTGTAATTTTGGTCAGACCTTGAGTGAGACCTAGAGGGGAAGAGTGCCTTCGAATAACGGGAGTGATTGCTGGATGCGGGGCCGGGTCACTTTCACCCCATCACTTTCCTAACTGTTCCAAGCTGAAATGCCCAGGGCCAGCTGCTACTTTGCTGCCTGTTCTTCTGATTAGCCTGGTATGAAACAGTGATTCTCAAACTGTTTGGTATCAAAATCATCTGGGGAAAATGGCAAAAATGCCAAGGCCTAAGCCCCATCCCGCTTCCAGGAGCCTAGTCCTGAGTGGGCTTCATTAGCTCAGCAGGTGGCTCTGATGCACACCTAGGCTGGAGAACCAGTGTGAGATACTGGAGCCCGAGATGACAGATCTGACTCACCAGGAGGGTTGGAGTCTTTCGCAACGTACGTAACCCCTTCCACCTCTTGTTAGGCAGCTCCTTGTCCTGCCTGAGGCTCCAGCCACAAGTTTGCTGCCTGGATGAATCTTCTCTGATTCCCCACCCCTGCAGGGAGTTGATTGCCGCAACCCCATCTGCCCTCTTGCACAAGGGGCTTCTGTGACAGTGTTCTCCCTGCTCCTAATGCATCTCATTACCTGTCTCCTACAGAGCCAGCAGGGATCTTCCTGCAACCTCAGTTACCGGGAGGGCCTGTTGCTAGGCACTCAGTGTGTGTTTATAGTTTATAAAGCTGCAGGTTGAAGGGAAGGCTGCTGTTACCAGTCCAGCTGCCTGATGGAGTCCAGCTTGTTCTTCATCTTTCAGGAGGGTTTTGAAGTACCCTGAGTATCACAGACTCTACAGACATAAATTCTCCCCATTTGAAAGTGGACCTTTGGAATGAAGGTCCTGAATTCTTCCAGAATGAGACTGTTACAAATACAATGATTGTATCTTGCTTTGGCAACTGCAGTAAAAAGAGGCCCAGTGCAACATTATAGGATACCATGTGAATCCTTTTCATGCTCATTTCCTCCTAAGAGTCCTTTCTCTGTGCCTCTTTTTAGAACAATGCTAAAGTAGCTGTGCTAGGGGCCTCTGGAGGCATCGGGCAGCCACTTTCACTTCTCCTGAAGAACAGCCCCTTGGTGAGCCGCCTGACCCTCTATGATATCGCGCACACACCCGGAGTGGCCGCAGATCTGAGCCACATCGAGACCAAAGCCGCTGTGAAAGGTACTGGGCGCGCTGACCCTGGAGACTTGCTTCCTGTCCCCAGTAGGCCAGGATTCGAGTTTTGAGTAAGATTCTTAGATGAAACTAAATGTTTAGAGACGGGGGTTTCTCTGTTTTAAATTTAAATTTTACAAGTGATTACACCCTTTTAGACTTGGCGTCTATAAAAATTGAAACAGCGGTGTCTTTTAGAAATGTGAGGTAGCCTAATCATCCCATTTTCTACTTTTTCTAATTTGAAAAGTAGTATGAGGATGGGGAAGAGGGAAGTGTCAGCAACCTCTGGTGAGGATTTGGGGACAGTAAGGTGGTGGTCTCAGCTGCGGGCCACCTTCCCTCCACCCCAGGGTTATCTTGCCAGCTTCTCAAAAAGCACGGCCTCTTTGGGAAACCTCCCCGTCTGTGGAAGGCAGTGTCGGATATTCAGTAAATGTTGTCTGGAAAATGATTCACTGGACTTAGTGCAGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTCAGGAGGATTGCTTGAGTCCAGGAGTTCAAGACCAGCCCAGGCAACATGGCGAGACCCCTATCTCAACAAAAAGTCCAAAAATTAGCTGGGCGTGATAGTGCACACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTACTTGAGCTCAGGAGGTTGAGGCTACAGTGAGCCCTGATTACACCACTGCACTTCAGCCTAGGTGAGATAGTGAGACACTGTTTCCAAAAAAAAAAAAAAAAATTTCATAAATATGCATATTTATATATGCTGCTTATTTAACCTTCACAATGTATCAACATTTTTGCATGTCACCAAATTTTTTTTTTTTTTTTGAGACCATGTCTTCCTCTGTGTCCCAGATGGAATACAGTGGCACAATCTTGGCTTACTGCAACCTCCCCATCTTGGGTTCAAGTGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGACCACAGGTGTGCAACACCATGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTAGAACTCCTGACCTCAAATGATCCACCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCAACTGCGCCCAGCCCGAATTCTTGATAAAATTATTCTTAAAGCTGTAATTTATCATTTATGATAGCTCTGCTGTTGACCATTGGCTGTTTCCTGTTTGCTTCTGTAAATATAAATATATTAATGTAAGTTGCAGTACGTATCTTTATCTTTACATCTTGTTGAAGTCTTAGAGTTCTAAACACAGAATTAGTAGGTATGAATATTTCAAAGCTTTTACTATAAAGTTCCAAATTGCTGTCCAGAAAGATTCTACTGATTTCTTTCCCCTCTGACAGCGTATGCGATACCGTGTCTGATGGTGTTTACATGAGTCTTAAGTTGGTGTGAACAGCTGGGGAGGCTGCCTGGCAAATTTTATGTTCGTGCACCTTCCAGAGTTCTCTGAATGGGTTGCCCATTTTCTTTTGGGCTGTATATTCGGGTTAAGAAGGCTCCTGCATTAAGGAAAAAGTCAAGATCGAAGCAGATTTTGGATATTGTAGCAAATTTCCCTGAAATCTTTGAAAACATACTTTTTCCTTCAGATGATAGGAGTAAACGAAATAGTAATATTTAGAGTCTTTCAGCACAGGACGTTTTCTTTCCTGGCCTTCAGTGCCTTCTGATCAAGGAGTTTGGGCTGGCACAGTGGGTCACTCCTGTAATCCCAGTACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGTTCAAGAGTTCAAAACCAGCCTTGCCAACCTGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAAATGTGGTGGACCATGCCTGTAATCCCAGCTACTGAGGAGGCTGAAACA
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GAGCCACCACGCCCAGCCCAGAAGATATTTTTTTAAAGAGATGGAATCTTGCTCTGTTTCCCAGGCTGGAATGCAATGGCGCCATCATGGCTCACGGCAGCCTCAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTTCTGAGTAGCTGGGACTACAGGTGCATACCACCATGCCAGCCTGAGCACGAGAGTGAAATGATTAAGACTTTGATTTTGGGAAAGCATGCTTTGGAGGTGTTGCTGAGTACCTAAGTTAGATAACGGAATAGAATGAAGAGGAGGAGCGGGTTGGGAGGGTGGTTGAGCTGCCAAGTTCTTCATGTCCTGACTTGATGTCTCTGATAAGAAGGAGGTGGCAGAAGATGGTTCTAGAAGTTTACATTTAGTGAACACAAGTGCCATTTGGGACCAGGGATGGAGGGAGGGGGGCAGGATAAATGGACAGTTGAGTTTGTGGAACCCATGGAACGCCTAACAGAACTGGGAATGCAGAGCTGGGATTTGGGAGTCCCTGAGACTCACACAAGATGTGGGAGTGAGAGCTGAAGATCCAGAAGTGGGTGAGGCTGAGCCTGCCCGACCTCAGGTTCTGAGCGGGTCTGACAGGTTCAAGTTTCCAGGCAGCCAGGGGTTCACCTTTAAAGCACCAACTTGAAACTCAAAAACCTGTTTGAATTCAAATGTTGGTTGTATATGCTTCCACAGTTTAATTTCCTGAGCAGAAACCCACTGGGTAAGCGTCTTGATTCGGATTTTGGTTTGTTGGGTTTTGGTTTCTGATAACCAAAGCCTGTTATTAGCTGGCCTCAGCTACTGTAGAAGACTGTGCAGTGATGCTGTCAGGCCCCAGATGACCACACACGGTGCCGAGAGTTCCCGTGTCTGCCACTTTGTTTGCCTCTTCCCTCACTGGTAGCTGCCTGCCTGCCTGCCTGCCAGGGATCGGCTGTGCTTCTCATTTGTGAGTTTAGATCAGAAACAAGCTCCCTGGGTATGGCTGTAATTTTGGTCAGACCTTGAGTGAGACCTAGAGGGGAAGAGTGCCTTCGAATAACGGGAGTGATTGCTGGATGCGGGGCCGGGTCACTTTCACCCCATCACTTTCCTAACTGTTCCAAGCTGAAATGCCCAGGGCCAGCTGCTACTTTGCTGCCTGTTCTTCTGATTAGCCTGGTATGAAACAGTGATTCTCAAACTGTTTGGTATCAAAATCATCTGGGGAAAATGGCAAAAATGCCAAGGCCTAAGCCCCATCCCGCTTCCAGGAGCCTAGTCCTGAGTGGGCTTCATTAGCTCAGCAGGTGGCTCTGATGCACACCTAGGCTGGAGAACCAGTGTGAGATACTGGAGCCCGAGATGACAGATCTGACTCACCAGGAGGGTTGGAGTCTTTCGCAACGTACGTAACCCCTTCCACCTCTTGTTAGGCAGCTCCTTGTCCTGCCTGAGGCTCCAGCCACAAGTTTGCTGCCTGGATGAATCTTCTCTGATTCCCCACCCCTGCAGGGAGTTGATTGCCGCAACCCCATCTGCCCTCTTGCACAAGGGGCTTCTGTGACAGTGTTCTCCCTGCTCCTAATGCATCTCATTACCTGTCTCCTACAGAGCCAGCAGGGATCTTCCTGCAACCTCAGTTACCGGGAGGGCCTGTTGCTAGGCACTCAGTGTGTGTTTATAGTTTATAAAGCTGCAGGTTGAAGGGAAGGCTGCTGTTACCAGTCCAGCTGCCTGATGGAGTCCAGCTTGTTCTTCATCTTTCAGGAGGGTTTTGAAGTACCCTGAGTATCACAGACTCTACAGACATAAATTCTCCCCATTTGAAAGTGGACCTTTGGAATGAAGGTCCTGAATTCTTCCAGAATGAGACTGTTACAAATACAATGATTGTATCTTGCTTTGGCAACTGCAGTAAAAAGAGGCCCAGTGCAACATTATAGGATACCATGTGAATCCTTTTCATGCTCATTTCCTCCTAAGAGTCCTTTCTCTGTGCCTCTTTTTAGAACAATGCTAAAGTAGCTGTGCTAGGGGCCTCTGGAGGCATCAGGCAGCCACTTTCACTTCTCCTGAAGAACAGCCCCTTGGTGAGCCGCCTGACCCTCTATGATATCGCGCACACACCCGGAGTGGCCGCAGATCTGAGCCACATCGAGACCAAAGCCGCTGTGAAAGGTACTGGGCGCGCTGACCCTGGAGACTTGCTTCCTGTCCCCAGTAGGCCAGGATTCGAGTTTTGAGTAAGATTCTTAGATGAAACTAAATGTTTAGAGACGGGGGTTTCTCTGTTTTAAATTTAAATTTTACAAGTGATTACACCCTTTTAGACTTGGCGTCTATAAAAATTGAAACAGCGGTGTCTTTTAGAAATGTGAGGTAGCCTAATCATCCCATTTTCTACTTTTTCTAATTTGAAAAGTAGTATGAGGATGGGGAAGAGGGAAGTGTCAGCAACCTCTGGTGAGGATTTGGGGACAGTAAGGTGGTGGTCTCAGCTGCGGGCCACCTTCCCTCCACCCCAGGGTTATCTTGCCAGCTTCTCAAAAAGCACGGCCTCTTTGGGAAACCTCCCCGTCTGTGGAAGGCAGTGTCGGATATTCAGTAAATGTTGTCTGGAAAATGATTCACTGGACTTAGTGCAGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTCAGGAGGATTGCTTGAGTCCAGGAGTTCAAGACCAGCCCAGGCAACATGGCGAGACCCCTATCTCAACAAAAAGTCCAAAAATTAGCTGGGCGTGATAGTGCACACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTACTTGAGCTCAGGAGGTTGAGGCTACAGTGAGCCCTGATTACACCACTGCACTTCAGCCTAGGTGAGATAGTGAGACACTGTTTCCAAAAAAAAAAAAAAAAATTTCATAAATATGCATATTTATATATGCTGCTTATTTAACCTTCACAATGTATCAACATTTTTGCATGTCACCAAATTTTTTTTTTTTTTTTGAGACCATGTCTTCCTCTGTGTCCCAGATGGAATACAGTGGCACAATCTTGGCTTACTGCAACCTCCCCATCTTGGGTTCAAGTGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGACCACAGGTGTGCAACACCATGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTAGAACTCCTGACCTCAAATGATCCACCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCAACTGCGCCCAGCCCGAATTCTTGATAAAATTATTCTTAAAGCTGTAATTTATCATTTATGATAGCTCTGCTGTTGACCATTGGCTGTTTCCTGTTTGCTTCTGTAAATATAAATATATTAATGTAAGTTGCAGTACGTATCTTTATCTTTACATCTTGTTGAAGTCTTAGAGTTCTAAACACAGAATTAGTAGGTATGAATATTTCAAAGCTTTTACTATAAAGTTCCAAATTGCTGTCCAGAAAGATTCTACTGATTTCTTTCCCCTCTGACAGCGTATGCGATACCGTGTCTGATGGTGTTTACATGAGTCTTAAGTTGGTGTGAACAGCTGGGGAGGCTGCCTGGCAAATTTTATGTTCGTGCACCTTCCAGAGTTCTCTGAATGGGTTGCCCATTTTCTTTTGGGCTGTATATTCGGGTTAAGAAGGCTCCTGCATTAAGGAAAAAGTCAAGATCGAAGCAGATTTTGGATATTGTAGCAAATTTCCCTGAAATCTTTGAAAACATACTTTTTCCTTCAGATGATAGGAGTAAACGAAATAGTAATATTTAGAGTCTTTCAGCACAGGACGTTTTCTTTCCTGGCCTTCAGTGCCTTCTGATCAAGGAGTTTGGGCTGGCACAGTGGGTCACTCCTGTAATCCCAGTACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGTTCAAGAGTTCAAAACCAGCCTTGCCAACCTGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAAATGTGGTGGACCATGCCTGTAATCCCAGCTACTGAGGAGGCTGAAACA
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Task1_train_11268
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A variant was discovered in gene MDH2 (malate dehydrogenase 2), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Infantile encephalopathy
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TTGGGAGGCTGAGGTGGGATGGTTGCTTGAACCCAGGAGTTCAAGACTGCAATGAGCTGTGATTGCGCCACTGCGCTCCAGCCTGCGTGACAGAGCAAGACCCTGTCTCTTTAAAAAAAAAAAAAAAACAGTTTGAGTGAGCAGGTGAGCGCAGGTGTATGTCCAGAGGCCCCCGGGATTGCCGCAGTACGGAAGTGGACACAACAGGCAGGATCCCACCTCCCACCTCCAGAGGCGCAGCCCCTGGCGTCCTGGAGGCAACAGAGTTCATTCTCGTGGGCTCTCAGGGCTGGGCACACCCCAGGCCCTAGTCCTGCCCTGCACCATAGCTGCCACTAGCTACATTTGGCTATTTATGGTTAAATAACATTAAAACTATATCCCTCTGCCACACAAACCACATTTAAGATGCTCCATGGCCACATATGGCTCCTCTGTCCTCACAGAAAGTCCTGTTAGGCAGTCCTATCTCAGCCTTGAAGCTTCACTGTTAGAGTTGGGGACAGGGTACCTTGGCCCTTGGGAGATCCCGTCCCCCACCTCCAACAGTGAAGTGGACTGTCATTACCCCTGGCTGCCTGACATTCTGGAAATTTCCTGGATCATATCAAGAATGCATATCAATCCTTAAACTTCCGATGGCTGGTTCCTCCCTCATCCTCTCACCCACCATATTCCCTTTCAACGTGGCTCCAGGACCTCCCAGGCCAATGCCTTGTTCCCGTTTGCTGCAAAGTCGCCTTGTCCCCCGTCTTAGCATGCACCATTGGAACATACATTTCTAGGAGTCTTGTATTTGAGGGCAAGCCTCTGGAAAGCAGGGCTGTGTCCCTTCAGCCCCACGTCCCTGGTGACCGTGCAGTGCCCGCACGTGTGTGCTTATACACCACCAAGCTAAGCCTCTCGGATCTTTGGCTCCCGGCTCCATGAAGCTGATCCTACTTTTCCCGTGCGTGAGGCTGATCCTCCCTCTCCCAGACCAGGCTCATTTTCCAACCTAGGACTGGGCTCTTCAGTGGCCATGGCCATCGGGGCAGGTGGCTGTTCCCTCGCTACCATTACTCCCACCAGGTTATTGTCCGTTTTAAGAAATACTTGGTTCAGCCGGGCGCAGTGGTGCATGCCTGGAATCCCAGCACTTTGGGAAGCCAACGCAGGAGGATGGCTTGAGCCCGGGAGTTCAGGACCAGCCTGGGCAACATGGCAACACCCCATCTGTACAAAACATTTAAAAAACATAGATTGGGTGTGGAGGTGTTTGGTACTTGGGAGGCTGAGGTGGGAGGATCATTGAGTCCAGGAGGCAGAGGTTGCAGCCATCCAAGATTGTGCCACTACACTCCAGCCTGGGGGATAGAGACCCTGTCTCAAAAAATAAAACAAAAACCTGGTTCACAGATTCTTGGGGGTGTGGTACCTCCAGTTTAAGAAATGAGGCAGCCTTGAACTGTGCTGTTTGGAGCCATAGGAGTCAGTTTGTTCTTTCTGTCCCAATCACTGTTTGAGGTGGCAGACTTCTAACTCATGGGTATCCTGGAATGGATTTGAATTTTGTTCTGTGGGGCCTGAAGAAAAGGGAACTTGGATTGTTCTGTGTAGGGAGGAGTCTGGGCTTGTGCATGGGGAGTGGAGCCGGCTCTGGGAAAGAGGATGCCAGGCCCGGGGGGGGCCTCCACAGGAGGCAGCATCCTCCCATGCCCATCCACAGTGGGCACAAATGCTCACTATGAAGGAAGGACTTGCGATGGCCTCGCCAGACGGCGGCAAGCCCTCACGGCACCTGCTGGCGCTCATGCTCAGCCTTTTGGGGCACCGTGGCAGGAGATCCAAGCGCAGCAGGGGCTGGACAGGGCCTCCTCCTAGCTGGCTCTGTTCCACCCTGAGTTCTGGGGGGCTTTTCCAGTGTTGGGGCTGTGGGCAGCTGTGACATGTTTTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGATTCCCTTTACCAGGCCCTGCTTTGAGGTGATCCCGGTAGACTGGAGAAGGCCTGGCCACGTGCCAGGTTTTGGAAGGGCTCCTGTTGTAGGCAGCCCCGCCCCTCTGCTGCAGGGCGGTGTCAGTCCTGGAGCGAATGTGGGTGGAAGCTGCTCAGGGCCCAGCTCCAGCACGCAAGGAGAACCACTGTTGGGAACCTCACCGGGTTACTGGTTAGGCCGGAGCGGGCGAGGTGCTTTTTTCAAAAATGAGTCCAGGGCTGGACACAGTGGCTCATACCTGTAATCCCAGCATTTGGGAGGCCAAAGCGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGCGAGCTATGATGCACCACTGAAGCCTGGGCGACAGAGCCAGACCCTGGCCTCAAAAAACAAATGAGTAGGGGACTCACCACACTTCCCAACAGAGTTGATTTCACTTCGTCTTTTTTTTTTTTATCTTTTTATTATTATTTTTTTGCTGCTCCTTGTGGAGCAGGGCTACCCCATAGGCAGTGTGCCCAGAATAGCATGTCATTTTTCTATAAAGGTTTTCTTTTTCTTCTTTATAGAAAACCTTTCCCATGCCCTGGTGATGGGAGGGAGAGGAGAGGTCGGGAATAGTGGGGGTGGGAGGCAGTGGGTCTGGGGTCATGGGCCGGAAGCCACTCACTGATCCCATGGCTTGGCTTGCAGTGCACCCCCAAGGTGGACTTTCCCCAGGACCAGCTGACAGCACTCACTGGGCGGATCCAGGAGGCCGGCACGGAGGTGGTCAAGGCTAAAGCCGGAGCAGGTAGAGTCTCAGGCAGCCCCGGGGCTGGGTGCCAGTGAGGCCCTGCGAGAGCTCAGGGTTGGGGAGAAATGCTGCTTGTCCCTGGGCATGGACGATCCTTTTCAGTGTTGATTTGCAGTTGCCTGGTGGAAAATCCCTGTGTGAGAGGGCAGCTCGGCCTGCTTTGTGGGGTTGAGAGTCATTTTTGAGGGTGGCAGAGTCAATTCTACACCATTCATGTATAAGTAACAAGAAATCGGGGTGCTGACTGAAATTCTCCACTGTCAGGCTGGAAGGTGTGCAGGTGTCTTGGCTGGCGGGGCCGGCTCACCTGGGCGTCACGTTTGTGGCACCAGCCAGGCTGACCTGTCTGTGCCCCCCTAGGCTCTGCCACCCTCTCCATGGCGTATGCCGGCGCCCGCTTTGTCTTCTCCCTTGTGGATGCAATGAATGGAAAGGAAGGTGTTGTGGAATGTTCCTTCGTTAAGTCACAGGAAACGGAATGTACCTACTTCTCCACACCGCTGCTGCTTGGGGTACGTATCCAGGCGTGGGTCCTTCTGACTGTGGAATAAGGGGGCGTTCCCTTTGCTTAAGCCTCAGGAGCTCTCCCTGGCCCTTTATGCAGTAAGCTCATGTGCCTGCCTGGCGAGTGCTGTTGTTTTCAAGGGTGGACGCACACCCGAGAAAAAAGAGCTGGGAGGATCACAGACTGTGAAGGGTGAACCTCCCAGCAAGTGGGTCTCCTTCCCTGCAGTTTGACAGCGGGTGCCCAGCAGCTGCAGGAGTATTGACTGATAAGACACTCCATCTCCAGGCAGCCCAGGGAGGCCTCCCTACCCCGCCTGAACACCTCCCTGTCGCTCCTTGTTCATCTTGTTCTGACTGCGGGGGGCGGCCAGGCCCAATTCCTCTTCGAGAGTGTGCCCCATCCAGACAGCCTGAGTCTTCAGCAAACAGAAACCCTTAGGTCTTACTCATACCCCCTCAAGCCGAGTTTCCATTTCTCACCTGTGGGCAGAAATGAGGCAGATGTGTGGTTGCCTTCATCACGTGGCCAGAAAGTAATATGGCTCACTGGGCCACCCCAGGACCTTTCTCAGAGATGCTCCGATACAGAAAGATCCTTCAGCTATGGCCCCAGGCCTTGGTGAGAGACAGGCACTCGATGGTATAGTTCTGTCCCCATGTCGGTGCAGGTGTATGGAA
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TTGGGAGGCTGAGGTGGGATGGTTGCTTGAACCCAGGAGTTCAAGACTGCAATGAGCTGTGATTGCGCCACTGCGCTCCAGCCTGCGTGACAGAGCAAGACCCTGTCTCTTTAAAAAAAAAAAAAAAACAGTTTGAGTGAGCAGGTGAGCGCAGGTGTATGTCCAGAGGCCCCCGGGATTGCCGCAGTACGGAAGTGGACACAACAGGCAGGATCCCACCTCCCACCTCCAGAGGCGCAGCCCCTGGCGTCCTGGAGGCAACAGAGTTCATTCTCGTGGGCTCTCAGGGCTGGGCACACCCCAGGCCCTAGTCCTGCCCTGCACCATAGCTGCCACTAGCTACATTTGGCTATTTATGGTTAAATAACATTAAAACTATATCCCTCTGCCACACAAACCACATTTAAGATGCTCCATGGCCACATATGGCTCCTCTGTCCTCACAGAAAGTCCTGTTAGGCAGTCCTATCTCAGCCTTGAAGCTTCACTGTTAGAGTTGGGGACAGGGTACCTTGGCCCTTGGGAGATCCCGTCCCCCACCTCCAACAGTGAAGTGGACTGTCATTACCCCTGGCTGCCTGACATTCTGGAAATTTCCTGGATCATATCAAGAATGCATATCAATCCTTAAACTTCCGATGGCTGGTTCCTCCCTCATCCTCTCACCCACCATATTCCCTTTCAACGTGGCTCCAGGACCTCCCAGGCCAATGCCTTGTTCCCGTTTGCTGCAAAGTCGCCTTGTCCCCCGTCTTAGCATGCACCATTGGAACATACATTTCTAGGAGTCTTGTATTTGAGGGCAAGCCTCTGGAAAGCAGGGCTGTGTCCCTTCAGCCCCACGTCCCTGGTGACCGTGCAGTGCCCGCACGTGTGTGCTTATACACCACCAAGCTAAGCCTCTCGGATCTTTGGCTCCCGGCTCCATGAAGCTGATCCTACTTTTCCCGTGCGTGAGGCTGATCCTCCCTCTCCCAGACCAGGCTCATTTTCCAACCTAGGACTGGGCTCTTCAGTGGCCATGGCCATCGGGGCAGGTGGCTGTTCCCTCGCTACCATTACTCCCACCAGGTTATTGTCCGTTTTAAGAAATACTTGGTTCAGCCGGGCGCAGTGGTGCATGCCTGGAATCCCAGCACTTTGGGAAGCCAACGCAGGAGGATGGCTTGAGCCCGGGAGTTCAGGACCAGCCTGGGCAACATGGCAACACCCCATCTGTACAAAACATTTAAAAAACATAGATTGGGTGTGGAGGTGTTTGGTACTTGGGAGGCTGAGGTGGGAGGATCATTGAGTCCAGGAGGCAGAGGTTGCAGCCATCCAAGATTGTGCCACTACACTCCAGCCTGGGGGATAGAGACCCTGTCTCAAAAAATAAAACAAAAACCTGGTTCACAGATTCTTGGGGGTGTGGTACCTCCAGTTTAAGAAATGAGGCAGCCTTGAACTGTGCTGTTTGGAGCCATAGGAGTCAGTTTGTTCTTTCTGTCCCAATCACTGTTTGAGGTGGCAGACTTCTAACTCATGGGTATCCTGGAATGGATTTGAATTTTGTTCTGTGGGGCCTGAAGAAAAGGGAACTTGGATTGTTCTGTGTAGGGAGGAGTCTGGGCTTGTGCATGGGGAGTGGAGCCGGCTCTGGGAAAGAGGATGCCAGGCCCGGGGGGGGCCTCCACAGGAGGCAGCATCCTCCCATGCCCATCCACAGTGGGCACAAATGCTCACTATGAAGGAAGGACTTGCGATGGCCTCGCCAGACGGCGGCAAGCCCTCACGGCACCTGCTGGCGCTCATGCTCAGCCTTTTGGGGCACCGTGGCAGGAGATCCAAGCGCAGCAGGGGCTGGACAGGGCCTCCTCCTAGCTGGCTCTGTTCCACCCTGAGTTCTGGGGGGCTTTTCCAGTGTTGGGGCTGTGGGCAGCTGTGACATGTTTTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCTCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGATTCCCTTTACCAGGCCCTGCTTTGAGGTGATCCCGGTAGACTGGAGAAGGCCTGGCCACGTGCCAGGTTTTGGAAGGGCTCCTGTTGTAGGCAGCCCCGCCCCTCTGCTGCAGGGCGGTGTCAGTCCTGGAGCGAATGTGGGTGGAAGCTGCTCAGGGCCCAGCTCCAGCACGCAAGGAGAACCACTGTTGGGAACCTCACCGGGTTACTGGTTAGGCCGGAGCGGGCGAGGTGCTTTTTTCAAAAATGAGTCCAGGGCTGGACACAGTGGCTCATACCTGTAATCCCAGCATTTGGGAGGCCAAAGCGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGCGAGCTATGATGCACCACTGAAGCCTGGGCGACAGAGCCAGACCCTGGCCTCAAAAAACAAATGAGTAGGGGACTCACCACACTTCCCAACAGAGTTGATTTCACTTCGTCTTTTTTTTTTTTATCTTTTTATTATTATTTTTTTGCTGCTCCTTGTGGAGCAGGGCTACCCCATAGGCAGTGTGCCCAGAATAGCATGTCATTTTTCTATAAAGGTTTTCTTTTTCTTCTTTATAGAAAACCTTTCCCATGCCCTGGTGATGGGAGGGAGAGGAGAGGTCGGGAATAGTGGGGGTGGGAGGCAGTGGGTCTGGGGTCATGGGCCGGAAGCCACTCACTGATCCCATGGCTTGGCTTGCAGTGCACCCCCAAGGTGGACTTTCCCCAGGACCAGCTGACAGCACTCACTGGGCGGATCCAGGAGGCCGGCACGGAGGTGGTCAAGGCTAAAGCCGGAGCAGGTAGAGTCTCAGGCAGCCCCGGGGCTGGGTGCCAGTGAGGCCCTGCGAGAGCTCAGGGTTGGGGAGAAATGCTGCTTGTCCCTGGGCATGGACGATCCTTTTCAGTGTTGATTTGCAGTTGCCTGGTGGAAAATCCCTGTGTGAGAGGGCAGCTCGGCCTGCTTTGTGGGGTTGAGAGTCATTTTTGAGGGTGGCAGAGTCAATTCTACACCATTCATGTATAAGTAACAAGAAATCGGGGTGCTGACTGAAATTCTCCACTGTCAGGCTGGAAGGTGTGCAGGTGTCTTGGCTGGCGGGGCCGGCTCACCTGGGCGTCACGTTTGTGGCACCAGCCAGGCTGACCTGTCTGTGCCCCCCTAGGCTCTGCCACCCTCTCCATGGCGTATGCCGGCGCCCGCTTTGTCTTCTCCCTTGTGGATGCAATGAATGGAAAGGAAGGTGTTGTGGAATGTTCCTTCGTTAAGTCACAGGAAACGGAATGTACCTACTTCTCCACACCGCTGCTGCTTGGGGTACGTATCCAGGCGTGGGTCCTTCTGACTGTGGAATAAGGGGGCGTTCCCTTTGCTTAAGCCTCAGGAGCTCTCCCTGGCCCTTTATGCAGTAAGCTCATGTGCCTGCCTGGCGAGTGCTGTTGTTTTCAAGGGTGGACGCACACCCGAGAAAAAAGAGCTGGGAGGATCACAGACTGTGAAGGGTGAACCTCCCAGCAAGTGGGTCTCCTTCCCTGCAGTTTGACAGCGGGTGCCCAGCAGCTGCAGGAGTATTGACTGATAAGACACTCCATCTCCAGGCAGCCCAGGGAGGCCTCCCTACCCCGCCTGAACACCTCCCTGTCGCTCCTTGTTCATCTTGTTCTGACTGCGGGGGGCGGCCAGGCCCAATTCCTCTTCGAGAGTGTGCCCCATCCAGACAGCCTGAGTCTTCAGCAAACAGAAACCCTTAGGTCTTACTCATACCCCCTCAAGCCGAGTTTCCATTTCTCACCTGTGGGCAGAAATGAGGCAGATGTGTGGTTGCCTTCATCACGTGGCCAGAAAGTAATATGGCTCACTGGGCCACCCCAGGACCTTTCTCAGAGATGCTCCGATACAGAAAGATCCTTCAGCTATGGCCCCAGGCCTTGGTGAGAGACAGGCACTCGATGGTATAGTTCTGTCCCCATGTCGGTGCAGGTGTATGGAA
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Task1_train_11269
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The variant affects gene MDH2 (malate dehydrogenase 2), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Developmental and epileptic encephalopathy, 51
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TTGGGAGGCTGAGGTGGGATGGTTGCTTGAACCCAGGAGTTCAAGACTGCAATGAGCTGTGATTGCGCCACTGCGCTCCAGCCTGCGTGACAGAGCAAGACCCTGTCTCTTTAAAAAAAAAAAAAAAACAGTTTGAGTGAGCAGGTGAGCGCAGGTGTATGTCCAGAGGCCCCCGGGATTGCCGCAGTACGGAAGTGGACACAACAGGCAGGATCCCACCTCCCACCTCCAGAGGCGCAGCCCCTGGCGTCCTGGAGGCAACAGAGTTCATTCTCGTGGGCTCTCAGGGCTGGGCACACCCCAGGCCCTAGTCCTGCCCTGCACCATAGCTGCCACTAGCTACATTTGGCTATTTATGGTTAAATAACATTAAAACTATATCCCTCTGCCACACAAACCACATTTAAGATGCTCCATGGCCACATATGGCTCCTCTGTCCTCACAGAAAGTCCTGTTAGGCAGTCCTATCTCAGCCTTGAAGCTTCACTGTTAGAGTTGGGGACAGGGTACCTTGGCCCTTGGGAGATCCCGTCCCCCACCTCCAACAGTGAAGTGGACTGTCATTACCCCTGGCTGCCTGACATTCTGGAAATTTCCTGGATCATATCAAGAATGCATATCAATCCTTAAACTTCCGATGGCTGGTTCCTCCCTCATCCTCTCACCCACCATATTCCCTTTCAACGTGGCTCCAGGACCTCCCAGGCCAATGCCTTGTTCCCGTTTGCTGCAAAGTCGCCTTGTCCCCCGTCTTAGCATGCACCATTGGAACATACATTTCTAGGAGTCTTGTATTTGAGGGCAAGCCTCTGGAAAGCAGGGCTGTGTCCCTTCAGCCCCACGTCCCTGGTGACCGTGCAGTGCCCGCACGTGTGTGCTTATACACCACCAAGCTAAGCCTCTCGGATCTTTGGCTCCCGGCTCCATGAAGCTGATCCTACTTTTCCCGTGCGTGAGGCTGATCCTCCCTCTCCCAGACCAGGCTCATTTTCCAACCTAGGACTGGGCTCTTCAGTGGCCATGGCCATCGGGGCAGGTGGCTGTTCCCTCGCTACCATTACTCCCACCAGGTTATTGTCCGTTTTAAGAAATACTTGGTTCAGCCGGGCGCAGTGGTGCATGCCTGGAATCCCAGCACTTTGGGAAGCCAACGCAGGAGGATGGCTTGAGCCCGGGAGTTCAGGACCAGCCTGGGCAACATGGCAACACCCCATCTGTACAAAACATTTAAAAAACATAGATTGGGTGTGGAGGTGTTTGGTACTTGGGAGGCTGAGGTGGGAGGATCATTGAGTCCAGGAGGCAGAGGTTGCAGCCATCCAAGATTGTGCCACTACACTCCAGCCTGGGGGATAGAGACCCTGTCTCAAAAAATAAAACAAAAACCTGGTTCACAGATTCTTGGGGGTGTGGTACCTCCAGTTTAAGAAATGAGGCAGCCTTGAACTGTGCTGTTTGGAGCCATAGGAGTCAGTTTGTTCTTTCTGTCCCAATCACTGTTTGAGGTGGCAGACTTCTAACTCATGGGTATCCTGGAATGGATTTGAATTTTGTTCTGTGGGGCCTGAAGAAAAGGGAACTTGGATTGTTCTGTGTAGGGAGGAGTCTGGGCTTGTGCATGGGGAGTGGAGCCGGCTCTGGGAAAGAGGATGCCAGGCCCGGGGGGGGCCTCCACAGGAGGCAGCATCCTCCCATGCCCATCCACAGTGGGCACAAATGCTCACTATGAAGGAAGGACTTGCGATGGCCTCGCCAGACGGCGGCAAGCCCTCACGGCACCTGCTGGCGCTCATGCTCAGCCTTTTGGGGCACCGTGGCAGGAGATCCAAGCGCAGCAGGGGCTGGACAGGGCCTCCTCCTAGCTGGCTCTGTTCCACCCTGAGTTCTGGGGGGCTTTTCCAGTGTTGGGGCTGTGGGCAGCTGTGACATGTTTTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGATTCCCTTTACCAGGCCCTGCTTTGAGGTGATCCCGGTAGACTGGAGAAGGCCTGGCCACGTGCCAGGTTTTGGAAGGGCTCCTGTTGTAGGCAGCCCCGCCCCTCTGCTGCAGGGCGGTGTCAGTCCTGGAGCGAATGTGGGTGGAAGCTGCTCAGGGCCCAGCTCCAGCACGCAAGGAGAACCACTGTTGGGAACCTCACCGGGTTACTGGTTAGGCCGGAGCGGGCGAGGTGCTTTTTTCAAAAATGAGTCCAGGGCTGGACACAGTGGCTCATACCTGTAATCCCAGCATTTGGGAGGCCAAAGCGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGCGAGCTATGATGCACCACTGAAGCCTGGGCGACAGAGCCAGACCCTGGCCTCAAAAAACAAATGAGTAGGGGACTCACCACACTTCCCAACAGAGTTGATTTCACTTCGTCTTTTTTTTTTTTATCTTTTTATTATTATTTTTTTGCTGCTCCTTGTGGAGCAGGGCTACCCCATAGGCAGTGTGCCCAGAATAGCATGTCATTTTTCTATAAAGGTTTTCTTTTTCTTCTTTATAGAAAACCTTTCCCATGCCCTGGTGATGGGAGGGAGAGGAGAGGTCGGGAATAGTGGGGGTGGGAGGCAGTGGGTCTGGGGTCATGGGCCGGAAGCCACTCACTGATCCCATGGCTTGGCTTGCAGTGCACCCCCAAGGTGGACTTTCCCCAGGACCAGCTGACAGCACTCACTGGGCGGATCCAGGAGGCCGGCACGGAGGTGGTCAAGGCTAAAGCCGGAGCAGGTAGAGTCTCAGGCAGCCCCGGGGCTGGGTGCCAGTGAGGCCCTGCGAGAGCTCAGGGTTGGGGAGAAATGCTGCTTGTCCCTGGGCATGGACGATCCTTTTCAGTGTTGATTTGCAGTTGCCTGGTGGAAAATCCCTGTGTGAGAGGGCAGCTCGGCCTGCTTTGTGGGGTTGAGAGTCATTTTTGAGGGTGGCAGAGTCAATTCTACACCATTCATGTATAAGTAACAAGAAATCGGGGTGCTGACTGAAATTCTCCACTGTCAGGCTGGAAGGTGTGCAGGTGTCTTGGCTGGCGGGGCCGGCTCACCTGGGCGTCACGTTTGTGGCACCAGCCAGGCTGACCTGTCTGTGCCCCCCTAGGCTCTGCCACCCTCTCCATGGCGTATGCCGGCGCCCGCTTTGTCTTCTCCCTTGTGGATGCAATGAATGGAAAGGAAGGTGTTGTGGAATGTTCCTTCGTTAAGTCACAGGAAACGGAATGTACCTACTTCTCCACACCGCTGCTGCTTGGGGTACGTATCCAGGCGTGGGTCCTTCTGACTGTGGAATAAGGGGGCGTTCCCTTTGCTTAAGCCTCAGGAGCTCTCCCTGGCCCTTTATGCAGTAAGCTCATGTGCCTGCCTGGCGAGTGCTGTTGTTTTCAAGGGTGGACGCACACCCGAGAAAAAAGAGCTGGGAGGATCACAGACTGTGAAGGGTGAACCTCCCAGCAAGTGGGTCTCCTTCCCTGCAGTTTGACAGCGGGTGCCCAGCAGCTGCAGGAGTATTGACTGATAAGACACTCCATCTCCAGGCAGCCCAGGGAGGCCTCCCTACCCCGCCTGAACACCTCCCTGTCGCTCCTTGTTCATCTTGTTCTGACTGCGGGGGGCGGCCAGGCCCAATTCCTCTTCGAGAGTGTGCCCCATCCAGACAGCCTGAGTCTTCAGCAAACAGAAACCCTTAGGTCTTACTCATACCCCCTCAAGCCGAGTTTCCATTTCTCACCTGTGGGCAGAAATGAGGCAGATGTGTGGTTGCCTTCATCACGTGGCCAGAAAGTAATATGGCTCACTGGGCCACCCCAGGACCTTTCTCAGAGATGCTCCGATACAGAAAGATCCTTCAGCTATGGCCCCAGGCCTTGGTGAGAGACAGGCACTCGATGGTATAGTTCTGTCCCCATGTCGGTGCAGGTGTATGGAA
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TTGGGAGGCTGAGGTGGGATGGTTGCTTGAACCCAGGAGTTCAAGACTGCAATGAGCTGTGATTGCGCCACTGCGCTCCAGCCTGCGTGACAGAGCAAGACCCTGTCTCTTTAAAAAAAAAAAAAAAACAGTTTGAGTGAGCAGGTGAGCGCAGGTGTATGTCCAGAGGCCCCCGGGATTGCCGCAGTACGGAAGTGGACACAACAGGCAGGATCCCACCTCCCACCTCCAGAGGCGCAGCCCCTGGCGTCCTGGAGGCAACAGAGTTCATTCTCGTGGGCTCTCAGGGCTGGGCACACCCCAGGCCCTAGTCCTGCCCTGCACCATAGCTGCCACTAGCTACATTTGGCTATTTATGGTTAAATAACATTAAAACTATATCCCTCTGCCACACAAACCACATTTAAGATGCTCCATGGCCACATATGGCTCCTCTGTCCTCACAGAAAGTCCTGTTAGGCAGTCCTATCTCAGCCTTGAAGCTTCACTGTTAGAGTTGGGGACAGGGTACCTTGGCCCTTGGGAGATCCCGTCCCCCACCTCCAACAGTGAAGTGGACTGTCATTACCCCTGGCTGCCTGACATTCTGGAAATTTCCTGGATCATATCAAGAATGCATATCAATCCTTAAACTTCCGATGGCTGGTTCCTCCCTCATCCTCTCACCCACCATATTCCCTTTCAACGTGGCTCCAGGACCTCCCAGGCCAATGCCTTGTTCCCGTTTGCTGCAAAGTCGCCTTGTCCCCCGTCTTAGCATGCACCATTGGAACATACATTTCTAGGAGTCTTGTATTTGAGGGCAAGCCTCTGGAAAGCAGGGCTGTGTCCCTTCAGCCCCACGTCCCTGGTGACCGTGCAGTGCCCGCACGTGTGTGCTTATACACCACCAAGCTAAGCCTCTCGGATCTTTGGCTCCCGGCTCCATGAAGCTGATCCTACTTTTCCCGTGCGTGAGGCTGATCCTCCCTCTCCCAGACCAGGCTCATTTTCCAACCTAGGACTGGGCTCTTCAGTGGCCATGGCCATCGGGGCAGGTGGCTGTTCCCTCGCTACCATTACTCCCACCAGGTTATTGTCCGTTTTAAGAAATACTTGGTTCAGCCGGGCGCAGTGGTGCATGCCTGGAATCCCAGCACTTTGGGAAGCCAACGCAGGAGGATGGCTTGAGCCCGGGAGTTCAGGACCAGCCTGGGCAACATGGCAACACCCCATCTGTACAAAACATTTAAAAAACATAGATTGGGTGTGGAGGTGTTTGGTACTTGGGAGGCTGAGGTGGGAGGATCATTGAGTCCAGGAGGCAGAGGTTGCAGCCATCCAAGATTGTGCCACTACACTCCAGCCTGGGGGATAGAGACCCTGTCTCAAAAAATAAAACAAAAACCTGGTTCACAGATTCTTGGGGGTGTGGTACCTCCAGTTTAAGAAATGAGGCAGCCTTGAACTGTGCTGTTTGGAGCCATAGGAGTCAGTTTGTTCTTTCTGTCCCAATCACTGTTTGAGGTGGCAGACTTCTAACTCATGGGTATCCTGGAATGGATTTGAATTTTGTTCTGTGGGGCCTGAAGAAAAGGGAACTTGGATTGTTCTGTGTAGGGAGGAGTCTGGGCTTGTGCATGGGGAGTGGAGCCGGCTCTGGGAAAGAGGATGCCAGGCCCGGGGGGGGCCTCCACAGGAGGCAGCATCCTCCCATGCCCATCCACAGTGGGCACAAATGCTCACTATGAAGGAAGGACTTGCGATGGCCTCGCCAGACGGCGGCAAGCCCTCACGGCACCTGCTGGCGCTCATGCTCAGCCTTTTGGGGCACCGTGGCAGGAGATCCAAGCGCAGCAGGGGCTGGACAGGGCCTCCTCCTAGCTGGCTCTGTTCCACCCTGAGTTCTGGGGGGCTTTTCCAGTGTTGGGGCTGTGGGCAGCTGTGACATGTTTTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCTCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGATTCCCTTTACCAGGCCCTGCTTTGAGGTGATCCCGGTAGACTGGAGAAGGCCTGGCCACGTGCCAGGTTTTGGAAGGGCTCCTGTTGTAGGCAGCCCCGCCCCTCTGCTGCAGGGCGGTGTCAGTCCTGGAGCGAATGTGGGTGGAAGCTGCTCAGGGCCCAGCTCCAGCACGCAAGGAGAACCACTGTTGGGAACCTCACCGGGTTACTGGTTAGGCCGGAGCGGGCGAGGTGCTTTTTTCAAAAATGAGTCCAGGGCTGGACACAGTGGCTCATACCTGTAATCCCAGCATTTGGGAGGCCAAAGCGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGCGAGCTATGATGCACCACTGAAGCCTGGGCGACAGAGCCAGACCCTGGCCTCAAAAAACAAATGAGTAGGGGACTCACCACACTTCCCAACAGAGTTGATTTCACTTCGTCTTTTTTTTTTTTATCTTTTTATTATTATTTTTTTGCTGCTCCTTGTGGAGCAGGGCTACCCCATAGGCAGTGTGCCCAGAATAGCATGTCATTTTTCTATAAAGGTTTTCTTTTTCTTCTTTATAGAAAACCTTTCCCATGCCCTGGTGATGGGAGGGAGAGGAGAGGTCGGGAATAGTGGGGGTGGGAGGCAGTGGGTCTGGGGTCATGGGCCGGAAGCCACTCACTGATCCCATGGCTTGGCTTGCAGTGCACCCCCAAGGTGGACTTTCCCCAGGACCAGCTGACAGCACTCACTGGGCGGATCCAGGAGGCCGGCACGGAGGTGGTCAAGGCTAAAGCCGGAGCAGGTAGAGTCTCAGGCAGCCCCGGGGCTGGGTGCCAGTGAGGCCCTGCGAGAGCTCAGGGTTGGGGAGAAATGCTGCTTGTCCCTGGGCATGGACGATCCTTTTCAGTGTTGATTTGCAGTTGCCTGGTGGAAAATCCCTGTGTGAGAGGGCAGCTCGGCCTGCTTTGTGGGGTTGAGAGTCATTTTTGAGGGTGGCAGAGTCAATTCTACACCATTCATGTATAAGTAACAAGAAATCGGGGTGCTGACTGAAATTCTCCACTGTCAGGCTGGAAGGTGTGCAGGTGTCTTGGCTGGCGGGGCCGGCTCACCTGGGCGTCACGTTTGTGGCACCAGCCAGGCTGACCTGTCTGTGCCCCCCTAGGCTCTGCCACCCTCTCCATGGCGTATGCCGGCGCCCGCTTTGTCTTCTCCCTTGTGGATGCAATGAATGGAAAGGAAGGTGTTGTGGAATGTTCCTTCGTTAAGTCACAGGAAACGGAATGTACCTACTTCTCCACACCGCTGCTGCTTGGGGTACGTATCCAGGCGTGGGTCCTTCTGACTGTGGAATAAGGGGGCGTTCCCTTTGCTTAAGCCTCAGGAGCTCTCCCTGGCCCTTTATGCAGTAAGCTCATGTGCCTGCCTGGCGAGTGCTGTTGTTTTCAAGGGTGGACGCACACCCGAGAAAAAAGAGCTGGGAGGATCACAGACTGTGAAGGGTGAACCTCCCAGCAAGTGGGTCTCCTTCCCTGCAGTTTGACAGCGGGTGCCCAGCAGCTGCAGGAGTATTGACTGATAAGACACTCCATCTCCAGGCAGCCCAGGGAGGCCTCCCTACCCCGCCTGAACACCTCCCTGTCGCTCCTTGTTCATCTTGTTCTGACTGCGGGGGGCGGCCAGGCCCAATTCCTCTTCGAGAGTGTGCCCCATCCAGACAGCCTGAGTCTTCAGCAAACAGAAACCCTTAGGTCTTACTCATACCCCCTCAAGCCGAGTTTCCATTTCTCACCTGTGGGCAGAAATGAGGCAGATGTGTGGTTGCCTTCATCACGTGGCCAGAAAGTAATATGGCTCACTGGGCCACCCCAGGACCTTTCTCAGAGATGCTCCGATACAGAAAGATCCTTCAGCTATGGCCCCAGGCCTTGGTGAGAGACAGGCACTCGATGGTATAGTTCTGTCCCCATGTCGGTGCAGGTGTATGGAA
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Task1_train_11270
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Gene HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; HSPB1-related axonal neuropathies
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CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGTCCACGCCACCATGCCTGGCTAATTTGTTCTGAATTTTAGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTTGTTCCAGCCTTCTGGCTTCAAGTAATCCTCCCACATCAGCCTCCCAAAGTGCTAAGATTACAGATGTCAGCCACTGCACCCAGCCAGTAATATAATTTTATGGGACCACCTTCATATTTGCTGTCCCTTGCTGACTTACACATCTTTATGCAATGCATGACTGTTACCATCATTATCATCTCTATTTTCCAGATGGGGAAACTGAGGCACAAAGAATCTAACTTGCACAAGTTCATCTGCTTAGTGATGGAACAAAGATGTGAATTCAGGCAGTCTGGCTTCAAAGTCCACACGCCTAACAACCACACCAGATTACTAGATTGCTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGCAGCTGCGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCTGGTGATCCTCCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGC
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CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGTCCACGCCACCATGCCTGGCTAATTTGTTCTGAATTTTAGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTTGTTCCAGCCTTCTGGCTTCAAGTAATCCTCCCACATCAGCCTCCCAAAGTGCTAAGATTACAGATGTCAGCCACTGCACCCAGCCAGTAATATAATTTTATGGGACCACCTTCATATTTGCTGTCCCTTGCTGACTTACACATCTTTATGCAATGCATGACTGTTACCATCATTATCATCTCTATTTTCCAGATGGGGAAACTGAGGCACAAAGAATCTAACTTGCACAAGTTCATCTGCTTAGTGATGGAACAAAGATGTGAATTCAGGCAGTCTGGCTTCAAAGTCCACACGCCTAACAACCACACCAGATTACTAGATTGCTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGCAGCTGCGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCTGGTGATCCTCCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCTGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGC
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Task1_train_11271
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Here’s a variant in HSPB1 (heat shock protein family B (small) member 1) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Charcot-Marie-Tooth disease
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CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGTCCACGCCACCATGCCTGGCTAATTTGTTCTGAATTTTAGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTTGTTCCAGCCTTCTGGCTTCAAGTAATCCTCCCACATCAGCCTCCCAAAGTGCTAAGATTACAGATGTCAGCCACTGCACCCAGCCAGTAATATAATTTTATGGGACCACCTTCATATTTGCTGTCCCTTGCTGACTTACACATCTTTATGCAATGCATGACTGTTACCATCATTATCATCTCTATTTTCCAGATGGGGAAACTGAGGCACAAAGAATCTAACTTGCACAAGTTCATCTGCTTAGTGATGGAACAAAGATGTGAATTCAGGCAGTCTGGCTTCAAAGTCCACACGCCTAACAACCACACCAGATTACTAGATTGCTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGCAGCTGCGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCTGGTGATCCTCCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGC
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CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGTCCACGCCACCATGCCTGGCTAATTTGTTCTGAATTTTAGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTTGTTCCAGCCTTCTGGCTTCAAGTAATCCTCCCACATCAGCCTCCCAAAGTGCTAAGATTACAGATGTCAGCCACTGCACCCAGCCAGTAATATAATTTTATGGGACCACCTTCATATTTGCTGTCCCTTGCTGACTTACACATCTTTATGCAATGCATGACTGTTACCATCATTATCATCTCTATTTTCCAGATGGGGAAACTGAGGCACAAAGAATCTAACTTGCACAAGTTCATCTGCTTAGTGATGGAACAAAGATGTGAATTCAGGCAGTCTGGCTTCAAAGTCCACACGCCTAACAACCACACCAGATTACTAGATTGCTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGCAGCTGCGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCTGGTGATCCTCCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCTGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGC
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Task1_train_11272
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Given this variant in gene HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2F
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CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGTCCACGCCACCATGCCTGGCTAATTTGTTCTGAATTTTAGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTTGTTCCAGCCTTCTGGCTTCAAGTAATCCTCCCACATCAGCCTCCCAAAGTGCTAAGATTACAGATGTCAGCCACTGCACCCAGCCAGTAATATAATTTTATGGGACCACCTTCATATTTGCTGTCCCTTGCTGACTTACACATCTTTATGCAATGCATGACTGTTACCATCATTATCATCTCTATTTTCCAGATGGGGAAACTGAGGCACAAAGAATCTAACTTGCACAAGTTCATCTGCTTAGTGATGGAACAAAGATGTGAATTCAGGCAGTCTGGCTTCAAAGTCCACACGCCTAACAACCACACCAGATTACTAGATTGCTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGCAGCTGCGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCTGGTGATCCTCCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGC
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CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGTCCACGCCACCATGCCTGGCTAATTTGTTCTGAATTTTAGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTTGTTCCAGCCTTCTGGCTTCAAGTAATCCTCCCACATCAGCCTCCCAAAGTGCTAAGATTACAGATGTCAGCCACTGCACCCAGCCAGTAATATAATTTTATGGGACCACCTTCATATTTGCTGTCCCTTGCTGACTTACACATCTTTATGCAATGCATGACTGTTACCATCATTATCATCTCTATTTTCCAGATGGGGAAACTGAGGCACAAAGAATCTAACTTGCACAAGTTCATCTGCTTAGTGATGGAACAAAGATGTGAATTCAGGCAGTCTGGCTTCAAAGTCCACACGCCTAACAACCACACCAGATTACTAGATTGCTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGCAGCTGCGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCTGGTGATCCTCCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCTGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGC
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Task1_train_11273
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This variant lies on Chromosome 7 and affects the gene HSPB1 (heat shock protein family B (small) member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Neuronopathy, distal hereditary motor, type 2B
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CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGTCCACGCCACCATGCCTGGCTAATTTGTTCTGAATTTTAGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTTGTTCCAGCCTTCTGGCTTCAAGTAATCCTCCCACATCAGCCTCCCAAAGTGCTAAGATTACAGATGTCAGCCACTGCACCCAGCCAGTAATATAATTTTATGGGACCACCTTCATATTTGCTGTCCCTTGCTGACTTACACATCTTTATGCAATGCATGACTGTTACCATCATTATCATCTCTATTTTCCAGATGGGGAAACTGAGGCACAAAGAATCTAACTTGCACAAGTTCATCTGCTTAGTGATGGAACAAAGATGTGAATTCAGGCAGTCTGGCTTCAAAGTCCACACGCCTAACAACCACACCAGATTACTAGATTGCTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGCAGCTGCGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCTGGTGATCCTCCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGC
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CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGTCCACGCCACCATGCCTGGCTAATTTGTTCTGAATTTTAGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTTGTTCCAGCCTTCTGGCTTCAAGTAATCCTCCCACATCAGCCTCCCAAAGTGCTAAGATTACAGATGTCAGCCACTGCACCCAGCCAGTAATATAATTTTATGGGACCACCTTCATATTTGCTGTCCCTTGCTGACTTACACATCTTTATGCAATGCATGACTGTTACCATCATTATCATCTCTATTTTCCAGATGGGGAAACTGAGGCACAAAGAATCTAACTTGCACAAGTTCATCTGCTTAGTGATGGAACAAAGATGTGAATTCAGGCAGTCTGGCTTCAAAGTCCACACGCCTAACAACCACACCAGATTACTAGATTGCTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGCAGCTGCGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCTGGTGATCCTCCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCTGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGC
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Task1_train_11274
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Here is a genetic alteration in HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Neuronopathy, distal hereditary motor, type 2B
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AAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGTCCACGCCACCATGCCTGGCTAATTTGTTCTGAATTTTAGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTTGTTCCAGCCTTCTGGCTTCAAGTAATCCTCCCACATCAGCCTCCCAAAGTGCTAAGATTACAGATGTCAGCCACTGCACCCAGCCAGTAATATAATTTTATGGGACCACCTTCATATTTGCTGTCCCTTGCTGACTTACACATCTTTATGCAATGCATGACTGTTACCATCATTATCATCTCTATTTTCCAGATGGGGAAACTGAGGCACAAAGAATCTAACTTGCACAAGTTCATCTGCTTAGTGATGGAACAAAGATGTGAATTCAGGCAGTCTGGCTTCAAAGTCCACACGCCTAACAACCACACCAGATTACTAGATTGCTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGCAGCTGCGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCTGGTGATCCTCCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAG
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AAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGTCCACGCCACCATGCCTGGCTAATTTGTTCTGAATTTTAGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTTGTTCCAGCCTTCTGGCTTCAAGTAATCCTCCCACATCAGCCTCCCAAAGTGCTAAGATTACAGATGTCAGCCACTGCACCCAGCCAGTAATATAATTTTATGGGACCACCTTCATATTTGCTGTCCCTTGCTGACTTACACATCTTTATGCAATGCATGACTGTTACCATCATTATCATCTCTATTTTCCAGATGGGGAAACTGAGGCACAAAGAATCTAACTTGCACAAGTTCATCTGCTTAGTGATGGAACAAAGATGTGAATTCAGGCAGTCTGGCTTCAAAGTCCACACGCCTAACAACCACACCAGATTACTAGATTGCTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGCAGCTGCGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCTGGTGATCCTCCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCATGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAG
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Task1_train_11275
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Given a variant located on Chromosome 7 and affecting HSPB1 (heat shock protein family B (small) member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Neuronopathy, distal hereditary motor, type 2B
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CCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTT
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CCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGTGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTT
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Task1_train_11276
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This gene mutation involves HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2F
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CCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTT
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CCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGTGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTT
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Task1_train_11277
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Mutation context: Chromosome 7, Gene HSPB1 (heat shock protein family B (small) member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Inborn genetic diseases
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CCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTT
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CCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGTGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTT
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Task1_train_11278
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Given this context: Chromosome 7, gene HSPB1 (heat shock protein family B (small) member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2F
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GATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCC
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GATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTACCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCC
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Task1_train_11279
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This variant affects the gene HSPB1 (heat shock protein family B (small) member 1) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2F
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GATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCC
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GATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTTCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCC
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Task1_train_11280
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This sequence change occurs on Chromosome 7, altering HSPB1 (heat shock protein family B (small) member 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2F
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TTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAG
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TTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCTGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAG
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Task1_train_11281
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An alteration has been detected in HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Inborn genetic diseases
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TACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGG
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TACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCTGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGG
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Task1_train_11282
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Chromosome 7 houses a mutation in gene HSPB1 (heat shock protein family B (small) member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Charcot-Marie-Tooth disease
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TACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGG
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TACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCTGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGG
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Task1_train_11283
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A variant was discovered in gene HSPB1 (heat shock protein family B (small) member 1), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2F
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TACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGG
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TACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCTGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGG
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Task1_train_11284
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A change on Chromosome 7 affects gene HSPB1 (heat shock protein family B (small) member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Charcot-Marie-Tooth disease
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GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAA
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GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGGGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAA
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Task1_train_11285
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A mutation found in HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Inborn genetic diseases
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GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAA
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GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGGGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAA
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Task1_train_11286
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Here is a variant affecting HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2F
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GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAA
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GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGGGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAA
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Task1_train_11287
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A genetic alteration is present in HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2F
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GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAA
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GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGGGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAA
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Task1_train_11288
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A sequence alteration has been identified in HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7. Is it disease-inducing or harmless?
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Pathogenic; Neuronopathy, distal hereditary motor, type 2B
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GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAA
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GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGGGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAA
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Task1_train_11289
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Given a variant located on Chromosome 7 and affecting HSPB1 (heat shock protein family B (small) member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; HSPB1-related axonal neuropathies
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GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAA
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GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGGGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAA
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Task1_train_11290
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A genomic change on Chromosome 7 affects HSPB1 (heat shock protein family B (small) member 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2F
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GTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAAGGGTGGCACCCTGCAGGCGAGGGCCTGGAGCATGTCCACACCACCCCCAATATCACCCCCCACCACCTTGCTGCTTTTTTGAGACCAAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTATAGGCGTGCGCCACCCTACCCGGCTAATTTTTGTAT
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GTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCATCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAAGGGTGGCACCCTGCAGGCGAGGGCCTGGAGCATGTCCACACCACCCCCAATATCACCCCCCACCACCTTGCTGCTTTTTTGAGACCAAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTATAGGCGTGCGCCACCCTACCCGGCTAATTTTTGTAT
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Task1_train_11291
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This sequence change occurs on Chromosome 7, altering HSPB1 (heat shock protein family B (small) member 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2F
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ACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAAGGGTGGCACCCTGCAGGCGAGGGCCTGGAGCATGTCCACACCACCCCCAATATCACCCCCCACCACCTTGCTGCTTTTTTGAGACCAAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTATAGGCGTGCGCCACCCTACCCGGCTAATTTTTGTATTTTTA
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ACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCGCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAAGGGTGGCACCCTGCAGGCGAGGGCCTGGAGCATGTCCACACCACCCCCAATATCACCCCCCACCACCTTGCTGCTTTTTTGAGACCAAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTATAGGCGTGCGCCACCCTACCCGGCTAATTTTTGTATTTTTA
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Task1_train_11292
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A mutation found in HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2F
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CTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAAGGGTGGCACCCTGCAGGCGAGGGCCTGGAGCATGTCCACACCACCCCCAATATCACCCCCCACCACCTTGCTGCTTTTTTGAGACCAAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTATAGGCGTGCGCCACCCTACCCGGCTAATTTTTGTATTTTTAG
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CTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGAAGGACGGCCCTGGCCACGGGCCACAGCCAGCAACGCTTAAGCACCAGGGCCGGCGAGTGCCCTGCCGTGGCACGGCTCCAGCGTCGCGCTCTCGAATTCATTTGCTTTCCTTAACGAGAGAAGGTTCCAGATGAGGGCTGAACCCTCTTCGCCCCGCCCACGGCCCCTGAACGCTGGGGGAGGAGTGCATGGGGAGGGGCGGCCCTCAAACGGGTCATTGCCATTAATAGAGACCTCAAACACCGCCTGCTAAAAATACCCGACTGGAGGAGCATAAAAGCGCAGCCGAGCCCAGCGCCCCGCACTTTTCTGAGCAGACGTCCAGAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTCTCGCTCCTGCGGGGCCCCAGCTGGGACCCCTTCCGCGACTGGTACCCGCATAGCCGCCTCTTCGACCAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGCGGCAGCAGCTGGCCAGGCTACGTGCGCCCCCTGCCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCGCCCGCCTACAGCCGCGCGCTCAGCCGGCAACTCAGCAGCGGGGTCTCGGAGATCCGGCACACTGCGGACCGCTGGCGCGTGTCCCTGGATGTCAACCACTTCGCCCCGGACGAGCTGACGGTCAAGACCAAGGATGGCGTGGTGGAGATCACCGGTGAGCCCCCCTGCTCCTGCAGGGGAGAGGAGGAGGCTAGCAGGGCGGGCAGGGCCGGGGGCGTGCGGTTGAAACGGGGGTCCCGGGGGCCTGGGGAGTTAAACGTTGGCCCAGCACCGGGAAAAACAGGACTCCTGATTCCCTTGCTCAGGAATTGGGAGTGCGGGTCGCTTCTAAGGGCGCTTTCTGCTCTGTAATCCCAGCGCTTTGGGAGGCCGAGACGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCGAGACGCGCCCCCCCGCCCCGACCCCGCGCCATTACAAAAAAAAAGCAAACAAAAATTTTTTTAAAGATCATCGATGAAGAGAGAAAATGCGCTTTTCTACAGAGTCCCCTTCCCACCCACAGCCCCATCCCCAGATAAGCGGGGAGTTCCCTGGCGCGGTGCCAGTTTCTAGCCGCTGAGTGGGCGTGTGCGCGGCTCCAAGTGCGCCTGCGTACTGCTCACTCCCCAGCTCCGCGCCCTGCTCCGTTCCTCCCAAAACTCTGAATCGAAGAACTTTCCGGAAGTTTCTGAGAGCCCAGACCGGCGGGCACGCCCCCATCCCCAACCCCCTCTGTTAATCCCTACCAGCCTGCAGTCCTGGCTGCTTCCAAGCAGGAGGTGGGGCCTCTGGCCTAGCGGGGCCGAAAGGCAGTCCCCTCCCCCGCAGTCTGATTTCCCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCCTGGCGCCAGGTCGGGGTGGGTGGGTGGCGTGGGGGTGGGGTCAGGGAAGAGGGCACAGGGACCCACCCGGTGTGTAATGTAACGCTTGCCTTTCCTCTCTGCACGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGGCACACTGACCGTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCTAGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATGAGACTGCCGCCAAGTAAAGCCTTAGCCCGGATGCCCACCCCTGCTGCCGCCACTGGCTGTGCCTCCCCCGCCACCTGTGTGTTCTTTTGATACATTTATCTTCTGTTTTTCTCAAATAAAGTTCAAAGCAACCACCTGTCACTGGCCCAGGCCCTGGTGTTTGTGGAAGGAAGCCTCAGGCACCTGCCATTTGCTGGCTTTCAGGAGTCATCTTTGCTCAGGCCCGTGCTGGGCCATGTGGGTACACTGGTGTAGGTTGCTGGACACAGGCTGACTCACATCCATAAAGACAGAGGTCTTAGGGCCGGGCGCAGTGGCTCATACCTACAATCCCAGCACTTTGGGGGGTTGAAGCAGGAGGAGTGCTTGAAGCCAAGAGTTCTAGACCAGCCTGGACAACATAGTAAGACTGTCTCTAAAAAATAAAAATTAGGCAGGGTGGTACTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTGTGAAGGGTACAGTGAGCTAACATCGTGCCATTGCACTCCAGCCTGGGCAACAGAACAAGATCCTGTCTCAAAACAACCAAAAGCCCAGAGAGAAAGAGTGAGACCCCATCTTTAAAAGAAAAAAAAAAAAGGTCATGATTGCAAGGTCACGATTGCAATTAAAACTGTAAGGTGGGGAAGGAGGAGGAAATAAGAGAAGCACCTGAGGCTTGAGTTCTCAGGAGCACCTAGGTTGGGTCCCAGGTGAAGGGGCACAGAGGTAATTGCACCTCAGAGCTGATGGGAGGATTACTATGTCAAAAGCTTGGCATCGGCTTCAGCACACCCCAAGGACACCACAGTGGACCTGGCAAGCTTTGAGATCTCTGTCACCGCCACACTCCCTGAGGCCAGGGCATCCCTGTTGGCAGTCACAAGGGAACTGGCAAGCCGAAATGGGGTGAGAACGGAGCCCGCAGAGTCTCGGGGTGGGGAGATTGGGCAGAGCCCTGGCCAACCGACGGGCTCAGACCTGTGCTGCTGGCTGGGCCAGCAGCTCTTGTTGCCTGTGTTTATTTCCAGCTGGCCTCCCTCCAGGTGTAGACAGGCTTCCAAGGGCCCAGTTCCCCTCTCTCTTGTCTGCCCTTGCCCTAGCTGCCACCCTCTCACCAGGCCCAGGGAAAGTTGAGGTAGAAAGCAGATGGGGGACCAGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGACAGGAGTTCGAGACAGCCTGGCCAACAGTGAAACTCCGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGGTGTTGCATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCCATGCCACTGCCCTCCAGCTTGGGGGACAAGAGCAAAACTCCATCTAAAAAAAAAAAACAAAAAACAGATGGGAGCTTTGGAGCTCAGTCCCAAGGTCCTCAAATATTTGAGGGACCCAGAGTCTGAGGCTGTAGCAAGATACTCCCATGTTCAAGGCGGAGCATGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCCCATGTTCTTTTCTCAGCCCACAGTCTGACTTTCCCAGGTTCCCTAAGAAGGGTGGCACCCTGCAGGCGAGGGCCTGGAGCATGTCCACACCACCCCCAATATCACCCCCCACCACCTTGCTGCTTTTTTGAGACCAAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTATAGGCGTGCGCCACCCTACCCGGCTAATTTTTGTATTTTTAG
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Task1_train_11293
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The gene YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; not provided
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CTGTGGTCATCGTGGTTCTTCTATCTTCACTGTCACCTGTATCCTGTTACACATACTCAGTTCCTAATTGTAAGCTCAATTTTGGTATTAGCAAAAGCATCTGTCAGTTTTTCCTCAATTACTCACACCTCTTCTTGCCTAAATAAAACAAAGAAACAAAGAAAACAAGTGTGGTGTCATTACACGTCTCGGGAGTTCCTCGTCACTGACTTTATATATATAAAAAAAAGAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTCCCGAAATTGGACAGAATGGTTAAGGATATAGCTCTTCCTTTTGGGTTTTTCTACCAGTAGGCTTCTAGCACCTGAATTTTCACACACTGCACCACAGACCTTCTCCAAACGCCTCTCCGACCCCACAGCTTCTGCACCCAGCTGCGTCCGCCAGCACGAGGCGCAGTAGGAAACGCCCCAGTGCAGAGTGGGTGACGGCAGTGTGATCCCTGAGGAGGGAGCTGCAGCAGCTTCAGAAGCGGGATGTTCTCTGAAAATACCAACACGATCCATGACATACAGACCTGAATTTTCTCTATTTTTGTGGCGTTTCACGTTTCTCTCAAGAGGATTAATAATTTTGGTGGTGGATTTACGTTAAGAGGAAAGAAGGACCAAAAAAAAAAAATCCCACAGCCACCTGACCTGAAGTCGCTTTCATTCTCATTTAGCCTAGGAGACCGATCAACAGCAAAACCAACCTGGATAAGGCTGAATAAGGATGTTAAAGCCCAAACAACTAGCAAAGGAAAAGTACACAATCGATGGCTTGATGTTACATATGGCTGTAATGTAGAAATACTGTAAACTGCAATTTAGTGTTAATACTGTCAACTAATCAGAGACTTCGGAAAACTGGCAAGGCCTAAACCATAAGGATGAATGAGACCTCAGGTTCTAAGTCTGTCAGTCTGGGATTTACACTGTTCCATGTCTGTAGGCTACACCCTGGAAAACATGCAGAGCCGAGACAGATGAGATAGAAAGTACCCAAAACGAGAGACGAGAGCGTATGTACATAAAAATCCTTACTGGAACCACAGAACTTACTGAATGAGGGCCATTCCTCTTTAAGTTTTCTTTTCATCTGAAAACCCTATTATCTAGCAATAAGTTAAATTAGAGACAGACAGCTCCACTTGCATGAATCTACAGAACAGTCCAGACGCCAGTGTGAGGCTGCTATTCCAATACCAGCACAGCTAGCCTGACTTTCCACTAGTGGTATTTTGGCAAAAATGTCAAAGAGGCGATCAAAGACAGGACAGGTCGTGGGTTTCTCCCTGGGAAGGTCATCCCTCCCTTTCCCTCCCCCACCCGACCCCCAACTCATGGGAAAAAAATAAAGACTGCAGTAGTAGCATCCGCGTGCGCTGCCAGTTCCCCTGGGGCCTTAATTGTTGCCTTCGCCGCCATCGTCGTCCTGCTGGTCGCTCGTCCAGAGCGTGAGGTTGTCGCGGAGGAGCTGCATGATGAGCGTGGAGTCCTTGTAGGAGTCCTCGTTGAGGGTGTCAAGCTCGGCGATGGCGTCGTCGAACGCGGTCTTGGCCAAGTGGCACGCTTGCTCTGGGGCGTTCTGGATCTCATAGTAGAAGACGGAGTAGTTAAGAGCCAGGCCTAATCGGATGGGGTGGGTGGGCTGCATGTGCTCTTTGCTGATCTCGTGGGCTTCGCTGTAGGCCTTCTCGGAGGACTCCACCACCGTCGCCCTTTTCTCTCCGGTGGCCACTTCAGCCAGGTAGCGGTAGTAGTCCCCTTTCATCTTCAGGTAGAACACTTTGCTCTCGTACTGGGTCTCGCTGCAATTCTTGATCAGGTAGTTATCCAGCAGGCTCAGCACATCCTGGCACACAGCCTCCAACTCCTTCTCTATCTTCTCCCGGTACGCACGGACCATCTCAATCTTCTTCTCATTGCCGTCTGCAGATGTCTTCTGCTCAATGCTACTGATGACCCTCCAGGAAGAGCGGCGTGCCCCCACAACGTTCTTGTAGGCCACAGACAGAAGGTTTCGTTCCTCATTCGACAGTGGCTCATTCAGCTCTGTCACCTGCCAGGAGGAAAGAACAGAGTTGTTATGGTACAGATGGTGTCCACTGGGTTAACTGTATCTTTGAGACACTAGAACAGAGCTCTGTTGAGTAACATGATGAACAGAAGGAAATTACTTTGTGTGGGCTGGGGGAAGGGGGCTGGAGGTGGAGCACACACAAGGGAGGGAAAAGTGCGGCTGGATCAATGGATCAACGGTGTCTGAACCCTGGCTTCCTCCCCAGAAAAGGACACAGGCTTATCACGTGTGTTCCACAAAACACTGTCAAGTCTAGGCCTTAGATGAGAGACTATGAGTACAGATGGTCTAACTCAGTGGTTTTTTAGGAAAACGGACTGACAAATTCCTCCTAATCCTGCCCTGTCTACTAAACTTCAGTCCCATCTCTTCTGGATAAGAAAATACTGAGTCAACTTCAAGCTGACTTCTGAGAAACATGGAGGCCTTTCTGCTCATATGCCAACACCATGTGAATTCTAAACCTCAGGGAGTCCAAATAAGGGGCATAGGATTGAGTCTGATCGCTGTGATACTTTAGCAACCCAGGGAACATGTTATTTGTGGCAGTGGGAGTGTCTGACTGAATACAACTTTACAACCAGCAATACAAAAGAACGAGGCGAGCACAGCGCCTCTAGCTGGGCAACAGGAATCAATGCTTCTCCCAAGATGGCCATTTCTCAAGGCTCCCGCCCTCATCACCCCCAAGGCTAATCACTTTCAGAAGACTAAAGTGGCATCTCAAACCAATGTTGTATATTTTTATGACTACAAATAACTGCTTATTAATATCAGCCAATAATACTAAATTTATTTACCTGGTTTCTATAGTATCAGAGTCATATACTATTACATTACTTGACAACCATATGAAATACATTATTATTATTATTATATTTGACACAGGGTCTCATTCTATTGCCCAGCCTGGAGTGCAGCAGCAGGATCACAGATCACTGCAGCCTCAACCTCCCCAGGCTCAGATGATTCTCCCACCTCTGCCTACCGAGGAGCTGGGACTACCAGCACATGCCAACTGGCTGGGGATGGGGAGAGGAGAGGAGAGGAGAGAAGAAAAGTGGTTACTCCCTGTCCCTTGAGTCCCCATTGTTCCGTGTTGATCAACTGCAGCATCTGTATAACATTATATTACATACAGAGACGACAGGTAGGGACCTAGAATCCAAAAAGATCTACTAAACCAAGCTTATCCAACCTGTGGCCCACAGGCTGCATGTAGCCCAGGATGGCTTTGAATGCAGCCCAACACAAATTCGTAAACTCTATTAAAACACTGAGAATTCTTTTTGCGATTTTTTTTTTTTTTTTAGCTCATCAACTATTGTTAGTGTTAGTGTATTTTATGTGTGGCCCAAGGGAATGTGGCCCAGGGAAGCCAAAAGACTGGACACCCCTGTACTAAACTCCTGGGGCATGGGGGAACTGAACTACCAGGAGACTTTTTTTTCTATGTTTGAATCATTATGTTCAGTATGTTGGCCCATGCCTGTAATCCCAGTGCTTTGAGACACCAGGTGGGGAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAACAAGGCCCCATCTCAAAAAAAAAAAAATTTTTTTTCTTAAATTATAAACGGGGGGTATGCTTGGCAAAAGTGATTACAGTCATTACTTCAAGCAGCATCTACTCAGAGATAATTAAATCAAAACATAAACCAAATCATGCTTATTAG
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CTGTGGTCATCGTGGTTCTTCTATCTTCACTGTCACCTGTATCCTGTTACACATACTCAGTTCCTAATTGTAAGCTCAATTTTGGTATTAGCAAAAGCATCTGTCAGTTTTTCCTCAATTACTCACACCTCTTCTTGCCTAAATAAAACAAAGAAACAAAGAAAACAAGTGTGGTGTCATTACACGTCTCGGGAGTTCCTCGTCACTGACTTTATATATATAAAAAAAAGAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTCCCGAAATTGGACAGAATGGTTAAGGATATAGCTCTTCCTTTTGGGTTTTTCTACCAGTAGGCTTCTAGCACCTGAATTTTCACACACTGCACCACAGACCTTCTCCAAACGCCTCTCCGACCCCACAGCTTCTGCACCCAGCTGCGTCCGCCAGCACGAGGCGCAGTAGGAAACGCCCCAGTGCAGAGTGGGTGACGGCAGTGTGATCCCTGAGGAGGGAGCTGCAGCAGCTTCAGAAGCGGGATGTTCTCTGAAAATACCAACACGATCCATGACATACAGACCTGAATTTTCTCTATTTTTGTGGCGTTTCACGTTTCTCTCAAGAGGATTAATAATTTTGGTGGTGGATTTACGTTAAGAGGAAAGAAGGACCAAAAAAAAAAAATCCCACAGCCACCTGACCTGAAGTCGCTTTCATTCTCATTTAGCCTAGGAGACCGATCAACAGCAAAACCAACCTGGATAAGGCTGAATAAGGATGTTAAAGCCCAAACAACTAGCAAAGGAAAAGTACACAATCGATGGCTTGATGTTACATATGGCTGTAATGTAGAAATACTGTAAACTGCAATTTAGTGTTAATACTGTCAACTAATCAGAGACTTCGGAAAACTGGCAAGGCCTAAACCATAAGGATGAATGAGACCTCAGGTTCTAAGTCTGTCAGTCTGGGATTTACACTGTTCCATGTCTGTAGGCTACACCCTGGAAAACATGCAGAGCCGAGACAGATGAGATAGAAAGTACCCAAAACGAGAGACGAGAGCGTATGTACATAAAAATCCTTACTGGAACCACAGAACTTACTGAATGAGGGCCATTCCTCTTTAAGTTTTCTTTTCATCTGAAAACCCTATTATCTAGCAATAAGTTAAATTAGAGACAGACAGCTCCACTTGCATGAATCTACAGAACAGTCCAGACGCCAGTGTGAGGCTGCTATTCCAATACCAGCACAGCTAGCCTGACTTTCCACTAGTGGTATTTTGGCAAAAATGTCAAAGAGGCGATCAAAGACAGGACAGGTCGTGGGTTTCTCCCTGGGAAGGTCATCCCTCCCTTTCCCTCCCCCACCCGACCCCCAACTCATGGGAAAAAAATAAAGACTGCAGTAGTAGCATCCGCGTGCGCTGCCAGTTCCCCTGGGGCCTTAATTGTTGCCTTCGCCGCCATCGTCGTCCTGCTGGTCGCTCGTCCAGAGCGTGAGGTTGTCGCGGAGGAGCTGCATGATGAGCGTGGAGTCCTTGTAGGAGTCCTCGTTGAGGGTGTCAAGCTCGGCGATGGCGTCGTCGAACGCGGTCTTGGCCAAGTGGCACGCTTGCTCTGGGGCGTTCTGGATCTCATAGTAGAAGACGGAGTAGTTAAGAGCCAGGCCTAATCGGATGGGGTGGGTGGGCTGCATGTGCTCTTTGCTGATCTCGTGGGCTTCGCTGTAGGCCTTCTCGGAGGACTCCACCACCGTCGCCCTTTTCTCTCCGGTGGCCACTTCAGCCAGGCAGCGGTAGTAGTCCCCTTTCATCTTCAGGTAGAACACTTTGCTCTCGTACTGGGTCTCGCTGCAATTCTTGATCAGGTAGTTATCCAGCAGGCTCAGCACATCCTGGCACACAGCCTCCAACTCCTTCTCTATCTTCTCCCGGTACGCACGGACCATCTCAATCTTCTTCTCATTGCCGTCTGCAGATGTCTTCTGCTCAATGCTACTGATGACCCTCCAGGAAGAGCGGCGTGCCCCCACAACGTTCTTGTAGGCCACAGACAGAAGGTTTCGTTCCTCATTCGACAGTGGCTCATTCAGCTCTGTCACCTGCCAGGAGGAAAGAACAGAGTTGTTATGGTACAGATGGTGTCCACTGGGTTAACTGTATCTTTGAGACACTAGAACAGAGCTCTGTTGAGTAACATGATGAACAGAAGGAAATTACTTTGTGTGGGCTGGGGGAAGGGGGCTGGAGGTGGAGCACACACAAGGGAGGGAAAAGTGCGGCTGGATCAATGGATCAACGGTGTCTGAACCCTGGCTTCCTCCCCAGAAAAGGACACAGGCTTATCACGTGTGTTCCACAAAACACTGTCAAGTCTAGGCCTTAGATGAGAGACTATGAGTACAGATGGTCTAACTCAGTGGTTTTTTAGGAAAACGGACTGACAAATTCCTCCTAATCCTGCCCTGTCTACTAAACTTCAGTCCCATCTCTTCTGGATAAGAAAATACTGAGTCAACTTCAAGCTGACTTCTGAGAAACATGGAGGCCTTTCTGCTCATATGCCAACACCATGTGAATTCTAAACCTCAGGGAGTCCAAATAAGGGGCATAGGATTGAGTCTGATCGCTGTGATACTTTAGCAACCCAGGGAACATGTTATTTGTGGCAGTGGGAGTGTCTGACTGAATACAACTTTACAACCAGCAATACAAAAGAACGAGGCGAGCACAGCGCCTCTAGCTGGGCAACAGGAATCAATGCTTCTCCCAAGATGGCCATTTCTCAAGGCTCCCGCCCTCATCACCCCCAAGGCTAATCACTTTCAGAAGACTAAAGTGGCATCTCAAACCAATGTTGTATATTTTTATGACTACAAATAACTGCTTATTAATATCAGCCAATAATACTAAATTTATTTACCTGGTTTCTATAGTATCAGAGTCATATACTATTACATTACTTGACAACCATATGAAATACATTATTATTATTATTATATTTGACACAGGGTCTCATTCTATTGCCCAGCCTGGAGTGCAGCAGCAGGATCACAGATCACTGCAGCCTCAACCTCCCCAGGCTCAGATGATTCTCCCACCTCTGCCTACCGAGGAGCTGGGACTACCAGCACATGCCAACTGGCTGGGGATGGGGAGAGGAGAGGAGAGGAGAGAAGAAAAGTGGTTACTCCCTGTCCCTTGAGTCCCCATTGTTCCGTGTTGATCAACTGCAGCATCTGTATAACATTATATTACATACAGAGACGACAGGTAGGGACCTAGAATCCAAAAAGATCTACTAAACCAAGCTTATCCAACCTGTGGCCCACAGGCTGCATGTAGCCCAGGATGGCTTTGAATGCAGCCCAACACAAATTCGTAAACTCTATTAAAACACTGAGAATTCTTTTTGCGATTTTTTTTTTTTTTTTAGCTCATCAACTATTGTTAGTGTTAGTGTATTTTATGTGTGGCCCAAGGGAATGTGGCCCAGGGAAGCCAAAAGACTGGACACCCCTGTACTAAACTCCTGGGGCATGGGGGAACTGAACTACCAGGAGACTTTTTTTTCTATGTTTGAATCATTATGTTCAGTATGTTGGCCCATGCCTGTAATCCCAGTGCTTTGAGACACCAGGTGGGGAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAACAAGGCCCCATCTCAAAAAAAAAAAAATTTTTTTTCTTAAATTATAAACGGGGGGTATGCTTGGCAAAAGTGATTACAGTCATTACTTCAAGCAGCATCTACTCAGAGATAATTAAATCAAAACATAAACCAAATCATGCTTATTAG
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Task1_train_11294
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A sequence alteration has been identified in YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) on Chromosome 7. Is it disease-inducing or harmless?
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Pathogenic; Intellectual disability
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GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTCCCGAAATTGGACAGAATGGTTAAGGATATAGCTCTTCCTTTTGGGTTTTTCTACCAGTAGGCTTCTAGCACCTGAATTTTCACACACTGCACCACAGACCTTCTCCAAACGCCTCTCCGACCCCACAGCTTCTGCACCCAGCTGCGTCCGCCAGCACGAGGCGCAGTAGGAAACGCCCCAGTGCAGAGTGGGTGACGGCAGTGTGATCCCTGAGGAGGGAGCTGCAGCAGCTTCAGAAGCGGGATGTTCTCTGAAAATACCAACACGATCCATGACATACAGACCTGAATTTTCTCTATTTTTGTGGCGTTTCACGTTTCTCTCAAGAGGATTAATAATTTTGGTGGTGGATTTACGTTAAGAGGAAAGAAGGACCAAAAAAAAAAAATCCCACAGCCACCTGACCTGAAGTCGCTTTCATTCTCATTTAGCCTAGGAGACCGATCAACAGCAAAACCAACCTGGATAAGGCTGAATAAGGATGTTAAAGCCCAAACAACTAGCAAAGGAAAAGTACACAATCGATGGCTTGATGTTACATATGGCTGTAATGTAGAAATACTGTAAACTGCAATTTAGTGTTAATACTGTCAACTAATCAGAGACTTCGGAAAACTGGCAAGGCCTAAACCATAAGGATGAATGAGACCTCAGGTTCTAAGTCTGTCAGTCTGGGATTTACACTGTTCCATGTCTGTAGGCTACACCCTGGAAAACATGCAGAGCCGAGACAGATGAGATAGAAAGTACCCAAAACGAGAGACGAGAGCGTATGTACATAAAAATCCTTACTGGAACCACAGAACTTACTGAATGAGGGCCATTCCTCTTTAAGTTTTCTTTTCATCTGAAAACCCTATTATCTAGCAATAAGTTAAATTAGAGACAGACAGCTCCACTTGCATGAATCTACAGAACAGTCCAGACGCCAGTGTGAGGCTGCTATTCCAATACCAGCACAGCTAGCCTGACTTTCCACTAGTGGTATTTTGGCAAAAATGTCAAAGAGGCGATCAAAGACAGGACAGGTCGTGGGTTTCTCCCTGGGAAGGTCATCCCTCCCTTTCCCTCCCCCACCCGACCCCCAACTCATGGGAAAAAAATAAAGACTGCAGTAGTAGCATCCGCGTGCGCTGCCAGTTCCCCTGGGGCCTTAATTGTTGCCTTCGCCGCCATCGTCGTCCTGCTGGTCGCTCGTCCAGAGCGTGAGGTTGTCGCGGAGGAGCTGCATGATGAGCGTGGAGTCCTTGTAGGAGTCCTCGTTGAGGGTGTCAAGCTCGGCGATGGCGTCGTCGAACGCGGTCTTGGCCAAGTGGCACGCTTGCTCTGGGGCGTTCTGGATCTCATAGTAGAAGACGGAGTAGTTAAGAGCCAGGCCTAATCGGATGGGGTGGGTGGGCTGCATGTGCTCTTTGCTGATCTCGTGGGCTTCGCTGTAGGCCTTCTCGGAGGACTCCACCACCGTCGCCCTTTTCTCTCCGGTGGCCACTTCAGCCAGGTAGCGGTAGTAGTCCCCTTTCATCTTCAGGTAGAACACTTTGCTCTCGTACTGGGTCTCGCTGCAATTCTTGATCAGGTAGTTATCCAGCAGGCTCAGCACATCCTGGCACACAGCCTCCAACTCCTTCTCTATCTTCTCCCGGTACGCACGGACCATCTCAATCTTCTTCTCATTGCCGTCTGCAGATGTCTTCTGCTCAATGCTACTGATGACCCTCCAGGAAGAGCGGCGTGCCCCCACAACGTTCTTGTAGGCCACAGACAGAAGGTTTCGTTCCTCATTCGACAGTGGCTCATTCAGCTCTGTCACCTGCCAGGAGGAAAGAACAGAGTTGTTATGGTACAGATGGTGTCCACTGGGTTAACTGTATCTTTGAGACACTAGAACAGAGCTCTGTTGAGTAACATGATGAACAGAAGGAAATTACTTTGTGTGGGCTGGGGGAAGGGGGCTGGAGGTGGAGCACACACAAGGGAGGGAAAAGTGCGGCTGGATCAATGGATCAACGGTGTCTGAACCCTGGCTTCCTCCCCAGAAAAGGACACAGGCTTATCACGTGTGTTCCACAAAACACTGTCAAGTCTAGGCCTTAGATGAGAGACTATGAGTACAGATGGTCTAACTCAGTGGTTTTTTAGGAAAACGGACTGACAAATTCCTCCTAATCCTGCCCTGTCTACTAAACTTCAGTCCCATCTCTTCTGGATAAGAAAATACTGAGTCAACTTCAAGCTGACTTCTGAGAAACATGGAGGCCTTTCTGCTCATATGCCAACACCATGTGAATTCTAAACCTCAGGGAGTCCAAATAAGGGGCATAGGATTGAGTCTGATCGCTGTGATACTTTAGCAACCCAGGGAACATGTTATTTGTGGCAGTGGGAGTGTCTGACTGAATACAACTTTACAACCAGCAATACAAAAGAACGAGGCGAGCACAGCGCCTCTAGCTGGGCAACAGGAATCAATGCTTCTCCCAAGATGGCCATTTCTCAAGGCTCCCGCCCTCATCACCCCCAAGGCTAATCACTTTCAGAAGACTAAAGTGGCATCTCAAACCAATGTTGTATATTTTTATGACTACAAATAACTGCTTATTAATATCAGCCAATAATACTAAATTTATTTACCTGGTTTCTATAGTATCAGAGTCATATACTATTACATTACTTGACAACCATATGAAATACATTATTATTATTATTATATTTGACACAGGGTCTCATTCTATTGCCCAGCCTGGAGTGCAGCAGCAGGATCACAGATCACTGCAGCCTCAACCTCCCCAGGCTCAGATGATTCTCCCACCTCTGCCTACCGAGGAGCTGGGACTACCAGCACATGCCAACTGGCTGGGGATGGGGAGAGGAGAGGAGAGGAGAGAAGAAAAGTGGTTACTCCCTGTCCCTTGAGTCCCCATTGTTCCGTGTTGATCAACTGCAGCATCTGTATAACATTATATTACATACAGAGACGACAGGTAGGGACCTAGAATCCAAAAAGATCTACTAAACCAAGCTTATCCAACCTGTGGCCCACAGGCTGCATGTAGCCCAGGATGGCTTTGAATGCAGCCCAACACAAATTCGTAAACTCTATTAAAACACTGAGAATTCTTTTTGCGATTTTTTTTTTTTTTTTAGCTCATCAACTATTGTTAGTGTTAGTGTATTTTATGTGTGGCCCAAGGGAATGTGGCCCAGGGAAGCCAAAAGACTGGACACCCCTGTACTAAACTCCTGGGGCATGGGGGAACTGAACTACCAGGAGACTTTTTTTTCTATGTTTGAATCATTATGTTCAGTATGTTGGCCCATGCCTGTAATCCCAGTGCTTTGAGACACCAGGTGGGGAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAACAAGGCCCCATCTCAAAAAAAAAAAAATTTTTTTTCTTAAATTATAAACGGGGGGTATGCTTGGCAAAAGTGATTACAGTCATTACTTCAAGCAGCATCTACTCAGAGATAATTAAATCAAAACATAAACCAAATCATGCTTATTAGTTTATGGCAGGCAATTCATTTTCTGAATGAATGATCAGCAAGTGCTACACGCTCAAATATTCTCTAAACTGATTAGTGGTGTTGTTAAAGTTAACATTTTCCTAGACATTACTGATGCTCTGTTTTAATGCTGGACAACGTTACTCCTACCAGCCGTGCCCTCAGTGAAACAGACTCAAAAGAGGGGAAGAATAGGGGGTGGGTACTACTTGAGTTCAGAGCAGAAGGA
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GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTCCCGAAATTGGACAGAATGGTTAAGGATATAGCTCTTCCTTTTGGGTTTTTCTACCAGTAGGCTTCTAGCACCTGAATTTTCACACACTGCACCACAGACCTTCTCCAAACGCCTCTCCGACCCCACAGCTTCTGCACCCAGCTGCGTCCGCCAGCACGAGGCGCAGTAGGAAACGCCCCAGTGCAGAGTGGGTGACGGCAGTGTGATCCCTGAGGAGGGAGCTGCAGCAGCTTCAGAAGCGGGATGTTCTCTGAAAATACCAACACGATCCATGACATACAGACCTGAATTTTCTCTATTTTTGTGGCGTTTCACGTTTCTCTCAAGAGGATTAATAATTTTGGTGGTGGATTTACGTTAAGAGGAAAGAAGGACCAAAAAAAAAAAATCCCACAGCCACCTGACCTGAAGTCGCTTTCATTCTCATTTAGCCTAGGAGACCGATCAACAGCAAAACCAACCTGGATAAGGCTGAATAAGGATGTTAAAGCCCAAACAACTAGCAAAGGAAAAGTACACAATCGATGGCTTGATGTTACATATGGCTGTAATGTAGAAATACTGTAAACTGCAATTTAGTGTTAATACTGTCAACTAATCAGAGACTTCGGAAAACTGGCAAGGCCTAAACCATAAGGATGAATGAGACCTCAGGTTCTAAGTCTGTCAGTCTGGGATTTACACTGTTCCATGTCTGTAGGCTACACCCTGGAAAACATGCAGAGCCGAGACAGATGAGATAGAAAGTACCCAAAACGAGAGACGAGAGCGTATGTACATAAAAATCCTTACTGGAACCACAGAACTTACTGAATGAGGGCCATTCCTCTTTAAGTTTTCTTTTCATCTGAAAACCCTATTATCTAGCAATAAGTTAAATTAGAGACAGACAGCTCCACTTGCATGAATCTACAGAACAGTCCAGACGCCAGTGTGAGGCTGCTATTCCAATACCAGCACAGCTAGCCTGACTTTCCACTAGTGGTATTTTGGCAAAAATGTCAAAGAGGCGATCAAAGACAGGACAGGTCGTGGGTTTCTCCCTGGGAAGGTCATCCCTCCCTTTCCCTCCCCCACCCGACCCCCAACTCATGGGAAAAAAATAAAGACTGCAGTAGTAGCATCCGCGTGCGCTGCCAGTTCCCCTGGGGCCTTAATTGTTGCCTTCGCCGCCATCGTCGTCCTGCTGGTCGCTCGTCCAGAGCGTGAGGTTGTCGCGGAGGAGCTGCATGATGAGCGTGGAGTCCTTGTAGGAGTCCTCGTTGAGGGTGTCAAGCTCGGCGATGGCGTCGTCGAACGCGGTCTTGGCCAAGTGGCACGCTTGCTCTGGGGCGTTCTGGATCTCATAGTAGAAGACGGAGTAGTTAAGAGCCAGGCCTAATCGGATGGGGTGGGTGGGCTGCATGTGCTCTTTGCTGATCTCGTGGGCTTCGCTGTAGGCCTTCTCGGAGGACTCCACCACCGTCGCCCTTTTCTCTCCGGTGGCCACTTCAGCCAGGTAGCGGTAGTAGTCCCCTTTCATCTTCAGGTAGAACACTTTGCTCTCGTACTGGGTCTCGCTGCAATTCTTGATCAGGTAGTTATCCAGCAGGCTCAGCACATCCTGGCACACAGCCTCCAACTCCTTCTCTATCTTCTCCCGGTACGCACGGACCATCTCAATCTTCTTCTCATTGCCGTCTGCAGATGTCTTCTGCTCAATGCTACTGATGACCCTCCAGGAAGAGCAGCGTGCCCCCACAACGTTCTTGTAGGCCACAGACAGAAGGTTTCGTTCCTCATTCGACAGTGGCTCATTCAGCTCTGTCACCTGCCAGGAGGAAAGAACAGAGTTGTTATGGTACAGATGGTGTCCACTGGGTTAACTGTATCTTTGAGACACTAGAACAGAGCTCTGTTGAGTAACATGATGAACAGAAGGAAATTACTTTGTGTGGGCTGGGGGAAGGGGGCTGGAGGTGGAGCACACACAAGGGAGGGAAAAGTGCGGCTGGATCAATGGATCAACGGTGTCTGAACCCTGGCTTCCTCCCCAGAAAAGGACACAGGCTTATCACGTGTGTTCCACAAAACACTGTCAAGTCTAGGCCTTAGATGAGAGACTATGAGTACAGATGGTCTAACTCAGTGGTTTTTTAGGAAAACGGACTGACAAATTCCTCCTAATCCTGCCCTGTCTACTAAACTTCAGTCCCATCTCTTCTGGATAAGAAAATACTGAGTCAACTTCAAGCTGACTTCTGAGAAACATGGAGGCCTTTCTGCTCATATGCCAACACCATGTGAATTCTAAACCTCAGGGAGTCCAAATAAGGGGCATAGGATTGAGTCTGATCGCTGTGATACTTTAGCAACCCAGGGAACATGTTATTTGTGGCAGTGGGAGTGTCTGACTGAATACAACTTTACAACCAGCAATACAAAAGAACGAGGCGAGCACAGCGCCTCTAGCTGGGCAACAGGAATCAATGCTTCTCCCAAGATGGCCATTTCTCAAGGCTCCCGCCCTCATCACCCCCAAGGCTAATCACTTTCAGAAGACTAAAGTGGCATCTCAAACCAATGTTGTATATTTTTATGACTACAAATAACTGCTTATTAATATCAGCCAATAATACTAAATTTATTTACCTGGTTTCTATAGTATCAGAGTCATATACTATTACATTACTTGACAACCATATGAAATACATTATTATTATTATTATATTTGACACAGGGTCTCATTCTATTGCCCAGCCTGGAGTGCAGCAGCAGGATCACAGATCACTGCAGCCTCAACCTCCCCAGGCTCAGATGATTCTCCCACCTCTGCCTACCGAGGAGCTGGGACTACCAGCACATGCCAACTGGCTGGGGATGGGGAGAGGAGAGGAGAGGAGAGAAGAAAAGTGGTTACTCCCTGTCCCTTGAGTCCCCATTGTTCCGTGTTGATCAACTGCAGCATCTGTATAACATTATATTACATACAGAGACGACAGGTAGGGACCTAGAATCCAAAAAGATCTACTAAACCAAGCTTATCCAACCTGTGGCCCACAGGCTGCATGTAGCCCAGGATGGCTTTGAATGCAGCCCAACACAAATTCGTAAACTCTATTAAAACACTGAGAATTCTTTTTGCGATTTTTTTTTTTTTTTTAGCTCATCAACTATTGTTAGTGTTAGTGTATTTTATGTGTGGCCCAAGGGAATGTGGCCCAGGGAAGCCAAAAGACTGGACACCCCTGTACTAAACTCCTGGGGCATGGGGGAACTGAACTACCAGGAGACTTTTTTTTCTATGTTTGAATCATTATGTTCAGTATGTTGGCCCATGCCTGTAATCCCAGTGCTTTGAGACACCAGGTGGGGAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAACAAGGCCCCATCTCAAAAAAAAAAAAATTTTTTTTCTTAAATTATAAACGGGGGGTATGCTTGGCAAAAGTGATTACAGTCATTACTTCAAGCAGCATCTACTCAGAGATAATTAAATCAAAACATAAACCAAATCATGCTTATTAGTTTATGGCAGGCAATTCATTTTCTGAATGAATGATCAGCAAGTGCTACACGCTCAAATATTCTCTAAACTGATTAGTGGTGTTGTTAAAGTTAACATTTTCCTAGACATTACTGATGCTCTGTTTTAATGCTGGACAACGTTACTCCTACCAGCCGTGCCCTCAGTGAAACAGACTCAAAAGAGGGGAAGAATAGGGGGTGGGTACTACTTGAGTTCAGAGCAGAAGGA
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Task1_train_11295
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Here is a variant affecting YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Microcephaly
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GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTCCCGAAATTGGACAGAATGGTTAAGGATATAGCTCTTCCTTTTGGGTTTTTCTACCAGTAGGCTTCTAGCACCTGAATTTTCACACACTGCACCACAGACCTTCTCCAAACGCCTCTCCGACCCCACAGCTTCTGCACCCAGCTGCGTCCGCCAGCACGAGGCGCAGTAGGAAACGCCCCAGTGCAGAGTGGGTGACGGCAGTGTGATCCCTGAGGAGGGAGCTGCAGCAGCTTCAGAAGCGGGATGTTCTCTGAAAATACCAACACGATCCATGACATACAGACCTGAATTTTCTCTATTTTTGTGGCGTTTCACGTTTCTCTCAAGAGGATTAATAATTTTGGTGGTGGATTTACGTTAAGAGGAAAGAAGGACCAAAAAAAAAAAATCCCACAGCCACCTGACCTGAAGTCGCTTTCATTCTCATTTAGCCTAGGAGACCGATCAACAGCAAAACCAACCTGGATAAGGCTGAATAAGGATGTTAAAGCCCAAACAACTAGCAAAGGAAAAGTACACAATCGATGGCTTGATGTTACATATGGCTGTAATGTAGAAATACTGTAAACTGCAATTTAGTGTTAATACTGTCAACTAATCAGAGACTTCGGAAAACTGGCAAGGCCTAAACCATAAGGATGAATGAGACCTCAGGTTCTAAGTCTGTCAGTCTGGGATTTACACTGTTCCATGTCTGTAGGCTACACCCTGGAAAACATGCAGAGCCGAGACAGATGAGATAGAAAGTACCCAAAACGAGAGACGAGAGCGTATGTACATAAAAATCCTTACTGGAACCACAGAACTTACTGAATGAGGGCCATTCCTCTTTAAGTTTTCTTTTCATCTGAAAACCCTATTATCTAGCAATAAGTTAAATTAGAGACAGACAGCTCCACTTGCATGAATCTACAGAACAGTCCAGACGCCAGTGTGAGGCTGCTATTCCAATACCAGCACAGCTAGCCTGACTTTCCACTAGTGGTATTTTGGCAAAAATGTCAAAGAGGCGATCAAAGACAGGACAGGTCGTGGGTTTCTCCCTGGGAAGGTCATCCCTCCCTTTCCCTCCCCCACCCGACCCCCAACTCATGGGAAAAAAATAAAGACTGCAGTAGTAGCATCCGCGTGCGCTGCCAGTTCCCCTGGGGCCTTAATTGTTGCCTTCGCCGCCATCGTCGTCCTGCTGGTCGCTCGTCCAGAGCGTGAGGTTGTCGCGGAGGAGCTGCATGATGAGCGTGGAGTCCTTGTAGGAGTCCTCGTTGAGGGTGTCAAGCTCGGCGATGGCGTCGTCGAACGCGGTCTTGGCCAAGTGGCACGCTTGCTCTGGGGCGTTCTGGATCTCATAGTAGAAGACGGAGTAGTTAAGAGCCAGGCCTAATCGGATGGGGTGGGTGGGCTGCATGTGCTCTTTGCTGATCTCGTGGGCTTCGCTGTAGGCCTTCTCGGAGGACTCCACCACCGTCGCCCTTTTCTCTCCGGTGGCCACTTCAGCCAGGTAGCGGTAGTAGTCCCCTTTCATCTTCAGGTAGAACACTTTGCTCTCGTACTGGGTCTCGCTGCAATTCTTGATCAGGTAGTTATCCAGCAGGCTCAGCACATCCTGGCACACAGCCTCCAACTCCTTCTCTATCTTCTCCCGGTACGCACGGACCATCTCAATCTTCTTCTCATTGCCGTCTGCAGATGTCTTCTGCTCAATGCTACTGATGACCCTCCAGGAAGAGCGGCGTGCCCCCACAACGTTCTTGTAGGCCACAGACAGAAGGTTTCGTTCCTCATTCGACAGTGGCTCATTCAGCTCTGTCACCTGCCAGGAGGAAAGAACAGAGTTGTTATGGTACAGATGGTGTCCACTGGGTTAACTGTATCTTTGAGACACTAGAACAGAGCTCTGTTGAGTAACATGATGAACAGAAGGAAATTACTTTGTGTGGGCTGGGGGAAGGGGGCTGGAGGTGGAGCACACACAAGGGAGGGAAAAGTGCGGCTGGATCAATGGATCAACGGTGTCTGAACCCTGGCTTCCTCCCCAGAAAAGGACACAGGCTTATCACGTGTGTTCCACAAAACACTGTCAAGTCTAGGCCTTAGATGAGAGACTATGAGTACAGATGGTCTAACTCAGTGGTTTTTTAGGAAAACGGACTGACAAATTCCTCCTAATCCTGCCCTGTCTACTAAACTTCAGTCCCATCTCTTCTGGATAAGAAAATACTGAGTCAACTTCAAGCTGACTTCTGAGAAACATGGAGGCCTTTCTGCTCATATGCCAACACCATGTGAATTCTAAACCTCAGGGAGTCCAAATAAGGGGCATAGGATTGAGTCTGATCGCTGTGATACTTTAGCAACCCAGGGAACATGTTATTTGTGGCAGTGGGAGTGTCTGACTGAATACAACTTTACAACCAGCAATACAAAAGAACGAGGCGAGCACAGCGCCTCTAGCTGGGCAACAGGAATCAATGCTTCTCCCAAGATGGCCATTTCTCAAGGCTCCCGCCCTCATCACCCCCAAGGCTAATCACTTTCAGAAGACTAAAGTGGCATCTCAAACCAATGTTGTATATTTTTATGACTACAAATAACTGCTTATTAATATCAGCCAATAATACTAAATTTATTTACCTGGTTTCTATAGTATCAGAGTCATATACTATTACATTACTTGACAACCATATGAAATACATTATTATTATTATTATATTTGACACAGGGTCTCATTCTATTGCCCAGCCTGGAGTGCAGCAGCAGGATCACAGATCACTGCAGCCTCAACCTCCCCAGGCTCAGATGATTCTCCCACCTCTGCCTACCGAGGAGCTGGGACTACCAGCACATGCCAACTGGCTGGGGATGGGGAGAGGAGAGGAGAGGAGAGAAGAAAAGTGGTTACTCCCTGTCCCTTGAGTCCCCATTGTTCCGTGTTGATCAACTGCAGCATCTGTATAACATTATATTACATACAGAGACGACAGGTAGGGACCTAGAATCCAAAAAGATCTACTAAACCAAGCTTATCCAACCTGTGGCCCACAGGCTGCATGTAGCCCAGGATGGCTTTGAATGCAGCCCAACACAAATTCGTAAACTCTATTAAAACACTGAGAATTCTTTTTGCGATTTTTTTTTTTTTTTTAGCTCATCAACTATTGTTAGTGTTAGTGTATTTTATGTGTGGCCCAAGGGAATGTGGCCCAGGGAAGCCAAAAGACTGGACACCCCTGTACTAAACTCCTGGGGCATGGGGGAACTGAACTACCAGGAGACTTTTTTTTCTATGTTTGAATCATTATGTTCAGTATGTTGGCCCATGCCTGTAATCCCAGTGCTTTGAGACACCAGGTGGGGAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAACAAGGCCCCATCTCAAAAAAAAAAAAATTTTTTTTCTTAAATTATAAACGGGGGGTATGCTTGGCAAAAGTGATTACAGTCATTACTTCAAGCAGCATCTACTCAGAGATAATTAAATCAAAACATAAACCAAATCATGCTTATTAGTTTATGGCAGGCAATTCATTTTCTGAATGAATGATCAGCAAGTGCTACACGCTCAAATATTCTCTAAACTGATTAGTGGTGTTGTTAAAGTTAACATTTTCCTAGACATTACTGATGCTCTGTTTTAATGCTGGACAACGTTACTCCTACCAGCCGTGCCCTCAGTGAAACAGACTCAAAAGAGGGGAAGAATAGGGGGTGGGTACTACTTGAGTTCAGAGCAGAAGGA
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GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTCCCGAAATTGGACAGAATGGTTAAGGATATAGCTCTTCCTTTTGGGTTTTTCTACCAGTAGGCTTCTAGCACCTGAATTTTCACACACTGCACCACAGACCTTCTCCAAACGCCTCTCCGACCCCACAGCTTCTGCACCCAGCTGCGTCCGCCAGCACGAGGCGCAGTAGGAAACGCCCCAGTGCAGAGTGGGTGACGGCAGTGTGATCCCTGAGGAGGGAGCTGCAGCAGCTTCAGAAGCGGGATGTTCTCTGAAAATACCAACACGATCCATGACATACAGACCTGAATTTTCTCTATTTTTGTGGCGTTTCACGTTTCTCTCAAGAGGATTAATAATTTTGGTGGTGGATTTACGTTAAGAGGAAAGAAGGACCAAAAAAAAAAAATCCCACAGCCACCTGACCTGAAGTCGCTTTCATTCTCATTTAGCCTAGGAGACCGATCAACAGCAAAACCAACCTGGATAAGGCTGAATAAGGATGTTAAAGCCCAAACAACTAGCAAAGGAAAAGTACACAATCGATGGCTTGATGTTACATATGGCTGTAATGTAGAAATACTGTAAACTGCAATTTAGTGTTAATACTGTCAACTAATCAGAGACTTCGGAAAACTGGCAAGGCCTAAACCATAAGGATGAATGAGACCTCAGGTTCTAAGTCTGTCAGTCTGGGATTTACACTGTTCCATGTCTGTAGGCTACACCCTGGAAAACATGCAGAGCCGAGACAGATGAGATAGAAAGTACCCAAAACGAGAGACGAGAGCGTATGTACATAAAAATCCTTACTGGAACCACAGAACTTACTGAATGAGGGCCATTCCTCTTTAAGTTTTCTTTTCATCTGAAAACCCTATTATCTAGCAATAAGTTAAATTAGAGACAGACAGCTCCACTTGCATGAATCTACAGAACAGTCCAGACGCCAGTGTGAGGCTGCTATTCCAATACCAGCACAGCTAGCCTGACTTTCCACTAGTGGTATTTTGGCAAAAATGTCAAAGAGGCGATCAAAGACAGGACAGGTCGTGGGTTTCTCCCTGGGAAGGTCATCCCTCCCTTTCCCTCCCCCACCCGACCCCCAACTCATGGGAAAAAAATAAAGACTGCAGTAGTAGCATCCGCGTGCGCTGCCAGTTCCCCTGGGGCCTTAATTGTTGCCTTCGCCGCCATCGTCGTCCTGCTGGTCGCTCGTCCAGAGCGTGAGGTTGTCGCGGAGGAGCTGCATGATGAGCGTGGAGTCCTTGTAGGAGTCCTCGTTGAGGGTGTCAAGCTCGGCGATGGCGTCGTCGAACGCGGTCTTGGCCAAGTGGCACGCTTGCTCTGGGGCGTTCTGGATCTCATAGTAGAAGACGGAGTAGTTAAGAGCCAGGCCTAATCGGATGGGGTGGGTGGGCTGCATGTGCTCTTTGCTGATCTCGTGGGCTTCGCTGTAGGCCTTCTCGGAGGACTCCACCACCGTCGCCCTTTTCTCTCCGGTGGCCACTTCAGCCAGGTAGCGGTAGTAGTCCCCTTTCATCTTCAGGTAGAACACTTTGCTCTCGTACTGGGTCTCGCTGCAATTCTTGATCAGGTAGTTATCCAGCAGGCTCAGCACATCCTGGCACACAGCCTCCAACTCCTTCTCTATCTTCTCCCGGTACGCACGGACCATCTCAATCTTCTTCTCATTGCCGTCTGCAGATGTCTTCTGCTCAATGCTACTGATGACCCTCCAGGAAGAGCAGCGTGCCCCCACAACGTTCTTGTAGGCCACAGACAGAAGGTTTCGTTCCTCATTCGACAGTGGCTCATTCAGCTCTGTCACCTGCCAGGAGGAAAGAACAGAGTTGTTATGGTACAGATGGTGTCCACTGGGTTAACTGTATCTTTGAGACACTAGAACAGAGCTCTGTTGAGTAACATGATGAACAGAAGGAAATTACTTTGTGTGGGCTGGGGGAAGGGGGCTGGAGGTGGAGCACACACAAGGGAGGGAAAAGTGCGGCTGGATCAATGGATCAACGGTGTCTGAACCCTGGCTTCCTCCCCAGAAAAGGACACAGGCTTATCACGTGTGTTCCACAAAACACTGTCAAGTCTAGGCCTTAGATGAGAGACTATGAGTACAGATGGTCTAACTCAGTGGTTTTTTAGGAAAACGGACTGACAAATTCCTCCTAATCCTGCCCTGTCTACTAAACTTCAGTCCCATCTCTTCTGGATAAGAAAATACTGAGTCAACTTCAAGCTGACTTCTGAGAAACATGGAGGCCTTTCTGCTCATATGCCAACACCATGTGAATTCTAAACCTCAGGGAGTCCAAATAAGGGGCATAGGATTGAGTCTGATCGCTGTGATACTTTAGCAACCCAGGGAACATGTTATTTGTGGCAGTGGGAGTGTCTGACTGAATACAACTTTACAACCAGCAATACAAAAGAACGAGGCGAGCACAGCGCCTCTAGCTGGGCAACAGGAATCAATGCTTCTCCCAAGATGGCCATTTCTCAAGGCTCCCGCCCTCATCACCCCCAAGGCTAATCACTTTCAGAAGACTAAAGTGGCATCTCAAACCAATGTTGTATATTTTTATGACTACAAATAACTGCTTATTAATATCAGCCAATAATACTAAATTTATTTACCTGGTTTCTATAGTATCAGAGTCATATACTATTACATTACTTGACAACCATATGAAATACATTATTATTATTATTATATTTGACACAGGGTCTCATTCTATTGCCCAGCCTGGAGTGCAGCAGCAGGATCACAGATCACTGCAGCCTCAACCTCCCCAGGCTCAGATGATTCTCCCACCTCTGCCTACCGAGGAGCTGGGACTACCAGCACATGCCAACTGGCTGGGGATGGGGAGAGGAGAGGAGAGGAGAGAAGAAAAGTGGTTACTCCCTGTCCCTTGAGTCCCCATTGTTCCGTGTTGATCAACTGCAGCATCTGTATAACATTATATTACATACAGAGACGACAGGTAGGGACCTAGAATCCAAAAAGATCTACTAAACCAAGCTTATCCAACCTGTGGCCCACAGGCTGCATGTAGCCCAGGATGGCTTTGAATGCAGCCCAACACAAATTCGTAAACTCTATTAAAACACTGAGAATTCTTTTTGCGATTTTTTTTTTTTTTTTAGCTCATCAACTATTGTTAGTGTTAGTGTATTTTATGTGTGGCCCAAGGGAATGTGGCCCAGGGAAGCCAAAAGACTGGACACCCCTGTACTAAACTCCTGGGGCATGGGGGAACTGAACTACCAGGAGACTTTTTTTTCTATGTTTGAATCATTATGTTCAGTATGTTGGCCCATGCCTGTAATCCCAGTGCTTTGAGACACCAGGTGGGGAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAACAAGGCCCCATCTCAAAAAAAAAAAAATTTTTTTTCTTAAATTATAAACGGGGGGTATGCTTGGCAAAAGTGATTACAGTCATTACTTCAAGCAGCATCTACTCAGAGATAATTAAATCAAAACATAAACCAAATCATGCTTATTAGTTTATGGCAGGCAATTCATTTTCTGAATGAATGATCAGCAAGTGCTACACGCTCAAATATTCTCTAAACTGATTAGTGGTGTTGTTAAAGTTAACATTTTCCTAGACATTACTGATGCTCTGTTTTAATGCTGGACAACGTTACTCCTACCAGCCGTGCCCTCAGTGAAACAGACTCAAAAGAGGGGAAGAATAGGGGGTGGGTACTACTTGAGTTCAGAGCAGAAGGA
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Task1_train_11296
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With a mutation on Chromosome 7 in gene YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Hypotonia
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GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTCCCGAAATTGGACAGAATGGTTAAGGATATAGCTCTTCCTTTTGGGTTTTTCTACCAGTAGGCTTCTAGCACCTGAATTTTCACACACTGCACCACAGACCTTCTCCAAACGCCTCTCCGACCCCACAGCTTCTGCACCCAGCTGCGTCCGCCAGCACGAGGCGCAGTAGGAAACGCCCCAGTGCAGAGTGGGTGACGGCAGTGTGATCCCTGAGGAGGGAGCTGCAGCAGCTTCAGAAGCGGGATGTTCTCTGAAAATACCAACACGATCCATGACATACAGACCTGAATTTTCTCTATTTTTGTGGCGTTTCACGTTTCTCTCAAGAGGATTAATAATTTTGGTGGTGGATTTACGTTAAGAGGAAAGAAGGACCAAAAAAAAAAAATCCCACAGCCACCTGACCTGAAGTCGCTTTCATTCTCATTTAGCCTAGGAGACCGATCAACAGCAAAACCAACCTGGATAAGGCTGAATAAGGATGTTAAAGCCCAAACAACTAGCAAAGGAAAAGTACACAATCGATGGCTTGATGTTACATATGGCTGTAATGTAGAAATACTGTAAACTGCAATTTAGTGTTAATACTGTCAACTAATCAGAGACTTCGGAAAACTGGCAAGGCCTAAACCATAAGGATGAATGAGACCTCAGGTTCTAAGTCTGTCAGTCTGGGATTTACACTGTTCCATGTCTGTAGGCTACACCCTGGAAAACATGCAGAGCCGAGACAGATGAGATAGAAAGTACCCAAAACGAGAGACGAGAGCGTATGTACATAAAAATCCTTACTGGAACCACAGAACTTACTGAATGAGGGCCATTCCTCTTTAAGTTTTCTTTTCATCTGAAAACCCTATTATCTAGCAATAAGTTAAATTAGAGACAGACAGCTCCACTTGCATGAATCTACAGAACAGTCCAGACGCCAGTGTGAGGCTGCTATTCCAATACCAGCACAGCTAGCCTGACTTTCCACTAGTGGTATTTTGGCAAAAATGTCAAAGAGGCGATCAAAGACAGGACAGGTCGTGGGTTTCTCCCTGGGAAGGTCATCCCTCCCTTTCCCTCCCCCACCCGACCCCCAACTCATGGGAAAAAAATAAAGACTGCAGTAGTAGCATCCGCGTGCGCTGCCAGTTCCCCTGGGGCCTTAATTGTTGCCTTCGCCGCCATCGTCGTCCTGCTGGTCGCTCGTCCAGAGCGTGAGGTTGTCGCGGAGGAGCTGCATGATGAGCGTGGAGTCCTTGTAGGAGTCCTCGTTGAGGGTGTCAAGCTCGGCGATGGCGTCGTCGAACGCGGTCTTGGCCAAGTGGCACGCTTGCTCTGGGGCGTTCTGGATCTCATAGTAGAAGACGGAGTAGTTAAGAGCCAGGCCTAATCGGATGGGGTGGGTGGGCTGCATGTGCTCTTTGCTGATCTCGTGGGCTTCGCTGTAGGCCTTCTCGGAGGACTCCACCACCGTCGCCCTTTTCTCTCCGGTGGCCACTTCAGCCAGGTAGCGGTAGTAGTCCCCTTTCATCTTCAGGTAGAACACTTTGCTCTCGTACTGGGTCTCGCTGCAATTCTTGATCAGGTAGTTATCCAGCAGGCTCAGCACATCCTGGCACACAGCCTCCAACTCCTTCTCTATCTTCTCCCGGTACGCACGGACCATCTCAATCTTCTTCTCATTGCCGTCTGCAGATGTCTTCTGCTCAATGCTACTGATGACCCTCCAGGAAGAGCGGCGTGCCCCCACAACGTTCTTGTAGGCCACAGACAGAAGGTTTCGTTCCTCATTCGACAGTGGCTCATTCAGCTCTGTCACCTGCCAGGAGGAAAGAACAGAGTTGTTATGGTACAGATGGTGTCCACTGGGTTAACTGTATCTTTGAGACACTAGAACAGAGCTCTGTTGAGTAACATGATGAACAGAAGGAAATTACTTTGTGTGGGCTGGGGGAAGGGGGCTGGAGGTGGAGCACACACAAGGGAGGGAAAAGTGCGGCTGGATCAATGGATCAACGGTGTCTGAACCCTGGCTTCCTCCCCAGAAAAGGACACAGGCTTATCACGTGTGTTCCACAAAACACTGTCAAGTCTAGGCCTTAGATGAGAGACTATGAGTACAGATGGTCTAACTCAGTGGTTTTTTAGGAAAACGGACTGACAAATTCCTCCTAATCCTGCCCTGTCTACTAAACTTCAGTCCCATCTCTTCTGGATAAGAAAATACTGAGTCAACTTCAAGCTGACTTCTGAGAAACATGGAGGCCTTTCTGCTCATATGCCAACACCATGTGAATTCTAAACCTCAGGGAGTCCAAATAAGGGGCATAGGATTGAGTCTGATCGCTGTGATACTTTAGCAACCCAGGGAACATGTTATTTGTGGCAGTGGGAGTGTCTGACTGAATACAACTTTACAACCAGCAATACAAAAGAACGAGGCGAGCACAGCGCCTCTAGCTGGGCAACAGGAATCAATGCTTCTCCCAAGATGGCCATTTCTCAAGGCTCCCGCCCTCATCACCCCCAAGGCTAATCACTTTCAGAAGACTAAAGTGGCATCTCAAACCAATGTTGTATATTTTTATGACTACAAATAACTGCTTATTAATATCAGCCAATAATACTAAATTTATTTACCTGGTTTCTATAGTATCAGAGTCATATACTATTACATTACTTGACAACCATATGAAATACATTATTATTATTATTATATTTGACACAGGGTCTCATTCTATTGCCCAGCCTGGAGTGCAGCAGCAGGATCACAGATCACTGCAGCCTCAACCTCCCCAGGCTCAGATGATTCTCCCACCTCTGCCTACCGAGGAGCTGGGACTACCAGCACATGCCAACTGGCTGGGGATGGGGAGAGGAGAGGAGAGGAGAGAAGAAAAGTGGTTACTCCCTGTCCCTTGAGTCCCCATTGTTCCGTGTTGATCAACTGCAGCATCTGTATAACATTATATTACATACAGAGACGACAGGTAGGGACCTAGAATCCAAAAAGATCTACTAAACCAAGCTTATCCAACCTGTGGCCCACAGGCTGCATGTAGCCCAGGATGGCTTTGAATGCAGCCCAACACAAATTCGTAAACTCTATTAAAACACTGAGAATTCTTTTTGCGATTTTTTTTTTTTTTTTAGCTCATCAACTATTGTTAGTGTTAGTGTATTTTATGTGTGGCCCAAGGGAATGTGGCCCAGGGAAGCCAAAAGACTGGACACCCCTGTACTAAACTCCTGGGGCATGGGGGAACTGAACTACCAGGAGACTTTTTTTTCTATGTTTGAATCATTATGTTCAGTATGTTGGCCCATGCCTGTAATCCCAGTGCTTTGAGACACCAGGTGGGGAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAACAAGGCCCCATCTCAAAAAAAAAAAAATTTTTTTTCTTAAATTATAAACGGGGGGTATGCTTGGCAAAAGTGATTACAGTCATTACTTCAAGCAGCATCTACTCAGAGATAATTAAATCAAAACATAAACCAAATCATGCTTATTAGTTTATGGCAGGCAATTCATTTTCTGAATGAATGATCAGCAAGTGCTACACGCTCAAATATTCTCTAAACTGATTAGTGGTGTTGTTAAAGTTAACATTTTCCTAGACATTACTGATGCTCTGTTTTAATGCTGGACAACGTTACTCCTACCAGCCGTGCCCTCAGTGAAACAGACTCAAAAGAGGGGAAGAATAGGGGGTGGGTACTACTTGAGTTCAGAGCAGAAGGA
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GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTCCCGAAATTGGACAGAATGGTTAAGGATATAGCTCTTCCTTTTGGGTTTTTCTACCAGTAGGCTTCTAGCACCTGAATTTTCACACACTGCACCACAGACCTTCTCCAAACGCCTCTCCGACCCCACAGCTTCTGCACCCAGCTGCGTCCGCCAGCACGAGGCGCAGTAGGAAACGCCCCAGTGCAGAGTGGGTGACGGCAGTGTGATCCCTGAGGAGGGAGCTGCAGCAGCTTCAGAAGCGGGATGTTCTCTGAAAATACCAACACGATCCATGACATACAGACCTGAATTTTCTCTATTTTTGTGGCGTTTCACGTTTCTCTCAAGAGGATTAATAATTTTGGTGGTGGATTTACGTTAAGAGGAAAGAAGGACCAAAAAAAAAAAATCCCACAGCCACCTGACCTGAAGTCGCTTTCATTCTCATTTAGCCTAGGAGACCGATCAACAGCAAAACCAACCTGGATAAGGCTGAATAAGGATGTTAAAGCCCAAACAACTAGCAAAGGAAAAGTACACAATCGATGGCTTGATGTTACATATGGCTGTAATGTAGAAATACTGTAAACTGCAATTTAGTGTTAATACTGTCAACTAATCAGAGACTTCGGAAAACTGGCAAGGCCTAAACCATAAGGATGAATGAGACCTCAGGTTCTAAGTCTGTCAGTCTGGGATTTACACTGTTCCATGTCTGTAGGCTACACCCTGGAAAACATGCAGAGCCGAGACAGATGAGATAGAAAGTACCCAAAACGAGAGACGAGAGCGTATGTACATAAAAATCCTTACTGGAACCACAGAACTTACTGAATGAGGGCCATTCCTCTTTAAGTTTTCTTTTCATCTGAAAACCCTATTATCTAGCAATAAGTTAAATTAGAGACAGACAGCTCCACTTGCATGAATCTACAGAACAGTCCAGACGCCAGTGTGAGGCTGCTATTCCAATACCAGCACAGCTAGCCTGACTTTCCACTAGTGGTATTTTGGCAAAAATGTCAAAGAGGCGATCAAAGACAGGACAGGTCGTGGGTTTCTCCCTGGGAAGGTCATCCCTCCCTTTCCCTCCCCCACCCGACCCCCAACTCATGGGAAAAAAATAAAGACTGCAGTAGTAGCATCCGCGTGCGCTGCCAGTTCCCCTGGGGCCTTAATTGTTGCCTTCGCCGCCATCGTCGTCCTGCTGGTCGCTCGTCCAGAGCGTGAGGTTGTCGCGGAGGAGCTGCATGATGAGCGTGGAGTCCTTGTAGGAGTCCTCGTTGAGGGTGTCAAGCTCGGCGATGGCGTCGTCGAACGCGGTCTTGGCCAAGTGGCACGCTTGCTCTGGGGCGTTCTGGATCTCATAGTAGAAGACGGAGTAGTTAAGAGCCAGGCCTAATCGGATGGGGTGGGTGGGCTGCATGTGCTCTTTGCTGATCTCGTGGGCTTCGCTGTAGGCCTTCTCGGAGGACTCCACCACCGTCGCCCTTTTCTCTCCGGTGGCCACTTCAGCCAGGTAGCGGTAGTAGTCCCCTTTCATCTTCAGGTAGAACACTTTGCTCTCGTACTGGGTCTCGCTGCAATTCTTGATCAGGTAGTTATCCAGCAGGCTCAGCACATCCTGGCACACAGCCTCCAACTCCTTCTCTATCTTCTCCCGGTACGCACGGACCATCTCAATCTTCTTCTCATTGCCGTCTGCAGATGTCTTCTGCTCAATGCTACTGATGACCCTCCAGGAAGAGCAGCGTGCCCCCACAACGTTCTTGTAGGCCACAGACAGAAGGTTTCGTTCCTCATTCGACAGTGGCTCATTCAGCTCTGTCACCTGCCAGGAGGAAAGAACAGAGTTGTTATGGTACAGATGGTGTCCACTGGGTTAACTGTATCTTTGAGACACTAGAACAGAGCTCTGTTGAGTAACATGATGAACAGAAGGAAATTACTTTGTGTGGGCTGGGGGAAGGGGGCTGGAGGTGGAGCACACACAAGGGAGGGAAAAGTGCGGCTGGATCAATGGATCAACGGTGTCTGAACCCTGGCTTCCTCCCCAGAAAAGGACACAGGCTTATCACGTGTGTTCCACAAAACACTGTCAAGTCTAGGCCTTAGATGAGAGACTATGAGTACAGATGGTCTAACTCAGTGGTTTTTTAGGAAAACGGACTGACAAATTCCTCCTAATCCTGCCCTGTCTACTAAACTTCAGTCCCATCTCTTCTGGATAAGAAAATACTGAGTCAACTTCAAGCTGACTTCTGAGAAACATGGAGGCCTTTCTGCTCATATGCCAACACCATGTGAATTCTAAACCTCAGGGAGTCCAAATAAGGGGCATAGGATTGAGTCTGATCGCTGTGATACTTTAGCAACCCAGGGAACATGTTATTTGTGGCAGTGGGAGTGTCTGACTGAATACAACTTTACAACCAGCAATACAAAAGAACGAGGCGAGCACAGCGCCTCTAGCTGGGCAACAGGAATCAATGCTTCTCCCAAGATGGCCATTTCTCAAGGCTCCCGCCCTCATCACCCCCAAGGCTAATCACTTTCAGAAGACTAAAGTGGCATCTCAAACCAATGTTGTATATTTTTATGACTACAAATAACTGCTTATTAATATCAGCCAATAATACTAAATTTATTTACCTGGTTTCTATAGTATCAGAGTCATATACTATTACATTACTTGACAACCATATGAAATACATTATTATTATTATTATATTTGACACAGGGTCTCATTCTATTGCCCAGCCTGGAGTGCAGCAGCAGGATCACAGATCACTGCAGCCTCAACCTCCCCAGGCTCAGATGATTCTCCCACCTCTGCCTACCGAGGAGCTGGGACTACCAGCACATGCCAACTGGCTGGGGATGGGGAGAGGAGAGGAGAGGAGAGAAGAAAAGTGGTTACTCCCTGTCCCTTGAGTCCCCATTGTTCCGTGTTGATCAACTGCAGCATCTGTATAACATTATATTACATACAGAGACGACAGGTAGGGACCTAGAATCCAAAAAGATCTACTAAACCAAGCTTATCCAACCTGTGGCCCACAGGCTGCATGTAGCCCAGGATGGCTTTGAATGCAGCCCAACACAAATTCGTAAACTCTATTAAAACACTGAGAATTCTTTTTGCGATTTTTTTTTTTTTTTTAGCTCATCAACTATTGTTAGTGTTAGTGTATTTTATGTGTGGCCCAAGGGAATGTGGCCCAGGGAAGCCAAAAGACTGGACACCCCTGTACTAAACTCCTGGGGCATGGGGGAACTGAACTACCAGGAGACTTTTTTTTCTATGTTTGAATCATTATGTTCAGTATGTTGGCCCATGCCTGTAATCCCAGTGCTTTGAGACACCAGGTGGGGAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAACAAGGCCCCATCTCAAAAAAAAAAAAATTTTTTTTCTTAAATTATAAACGGGGGGTATGCTTGGCAAAAGTGATTACAGTCATTACTTCAAGCAGCATCTACTCAGAGATAATTAAATCAAAACATAAACCAAATCATGCTTATTAGTTTATGGCAGGCAATTCATTTTCTGAATGAATGATCAGCAAGTGCTACACGCTCAAATATTCTCTAAACTGATTAGTGGTGTTGTTAAAGTTAACATTTTCCTAGACATTACTGATGCTCTGTTTTAATGCTGGACAACGTTACTCCTACCAGCCGTGCCCTCAGTGAAACAGACTCAAAAGAGGGGAAGAATAGGGGGTGGGTACTACTTGAGTTCAGAGCAGAAGGA
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Task1_train_11297
|
A genetic alteration is present in YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Severe global developmental delay
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GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTCCCGAAATTGGACAGAATGGTTAAGGATATAGCTCTTCCTTTTGGGTTTTTCTACCAGTAGGCTTCTAGCACCTGAATTTTCACACACTGCACCACAGACCTTCTCCAAACGCCTCTCCGACCCCACAGCTTCTGCACCCAGCTGCGTCCGCCAGCACGAGGCGCAGTAGGAAACGCCCCAGTGCAGAGTGGGTGACGGCAGTGTGATCCCTGAGGAGGGAGCTGCAGCAGCTTCAGAAGCGGGATGTTCTCTGAAAATACCAACACGATCCATGACATACAGACCTGAATTTTCTCTATTTTTGTGGCGTTTCACGTTTCTCTCAAGAGGATTAATAATTTTGGTGGTGGATTTACGTTAAGAGGAAAGAAGGACCAAAAAAAAAAAATCCCACAGCCACCTGACCTGAAGTCGCTTTCATTCTCATTTAGCCTAGGAGACCGATCAACAGCAAAACCAACCTGGATAAGGCTGAATAAGGATGTTAAAGCCCAAACAACTAGCAAAGGAAAAGTACACAATCGATGGCTTGATGTTACATATGGCTGTAATGTAGAAATACTGTAAACTGCAATTTAGTGTTAATACTGTCAACTAATCAGAGACTTCGGAAAACTGGCAAGGCCTAAACCATAAGGATGAATGAGACCTCAGGTTCTAAGTCTGTCAGTCTGGGATTTACACTGTTCCATGTCTGTAGGCTACACCCTGGAAAACATGCAGAGCCGAGACAGATGAGATAGAAAGTACCCAAAACGAGAGACGAGAGCGTATGTACATAAAAATCCTTACTGGAACCACAGAACTTACTGAATGAGGGCCATTCCTCTTTAAGTTTTCTTTTCATCTGAAAACCCTATTATCTAGCAATAAGTTAAATTAGAGACAGACAGCTCCACTTGCATGAATCTACAGAACAGTCCAGACGCCAGTGTGAGGCTGCTATTCCAATACCAGCACAGCTAGCCTGACTTTCCACTAGTGGTATTTTGGCAAAAATGTCAAAGAGGCGATCAAAGACAGGACAGGTCGTGGGTTTCTCCCTGGGAAGGTCATCCCTCCCTTTCCCTCCCCCACCCGACCCCCAACTCATGGGAAAAAAATAAAGACTGCAGTAGTAGCATCCGCGTGCGCTGCCAGTTCCCCTGGGGCCTTAATTGTTGCCTTCGCCGCCATCGTCGTCCTGCTGGTCGCTCGTCCAGAGCGTGAGGTTGTCGCGGAGGAGCTGCATGATGAGCGTGGAGTCCTTGTAGGAGTCCTCGTTGAGGGTGTCAAGCTCGGCGATGGCGTCGTCGAACGCGGTCTTGGCCAAGTGGCACGCTTGCTCTGGGGCGTTCTGGATCTCATAGTAGAAGACGGAGTAGTTAAGAGCCAGGCCTAATCGGATGGGGTGGGTGGGCTGCATGTGCTCTTTGCTGATCTCGTGGGCTTCGCTGTAGGCCTTCTCGGAGGACTCCACCACCGTCGCCCTTTTCTCTCCGGTGGCCACTTCAGCCAGGTAGCGGTAGTAGTCCCCTTTCATCTTCAGGTAGAACACTTTGCTCTCGTACTGGGTCTCGCTGCAATTCTTGATCAGGTAGTTATCCAGCAGGCTCAGCACATCCTGGCACACAGCCTCCAACTCCTTCTCTATCTTCTCCCGGTACGCACGGACCATCTCAATCTTCTTCTCATTGCCGTCTGCAGATGTCTTCTGCTCAATGCTACTGATGACCCTCCAGGAAGAGCGGCGTGCCCCCACAACGTTCTTGTAGGCCACAGACAGAAGGTTTCGTTCCTCATTCGACAGTGGCTCATTCAGCTCTGTCACCTGCCAGGAGGAAAGAACAGAGTTGTTATGGTACAGATGGTGTCCACTGGGTTAACTGTATCTTTGAGACACTAGAACAGAGCTCTGTTGAGTAACATGATGAACAGAAGGAAATTACTTTGTGTGGGCTGGGGGAAGGGGGCTGGAGGTGGAGCACACACAAGGGAGGGAAAAGTGCGGCTGGATCAATGGATCAACGGTGTCTGAACCCTGGCTTCCTCCCCAGAAAAGGACACAGGCTTATCACGTGTGTTCCACAAAACACTGTCAAGTCTAGGCCTTAGATGAGAGACTATGAGTACAGATGGTCTAACTCAGTGGTTTTTTAGGAAAACGGACTGACAAATTCCTCCTAATCCTGCCCTGTCTACTAAACTTCAGTCCCATCTCTTCTGGATAAGAAAATACTGAGTCAACTTCAAGCTGACTTCTGAGAAACATGGAGGCCTTTCTGCTCATATGCCAACACCATGTGAATTCTAAACCTCAGGGAGTCCAAATAAGGGGCATAGGATTGAGTCTGATCGCTGTGATACTTTAGCAACCCAGGGAACATGTTATTTGTGGCAGTGGGAGTGTCTGACTGAATACAACTTTACAACCAGCAATACAAAAGAACGAGGCGAGCACAGCGCCTCTAGCTGGGCAACAGGAATCAATGCTTCTCCCAAGATGGCCATTTCTCAAGGCTCCCGCCCTCATCACCCCCAAGGCTAATCACTTTCAGAAGACTAAAGTGGCATCTCAAACCAATGTTGTATATTTTTATGACTACAAATAACTGCTTATTAATATCAGCCAATAATACTAAATTTATTTACCTGGTTTCTATAGTATCAGAGTCATATACTATTACATTACTTGACAACCATATGAAATACATTATTATTATTATTATATTTGACACAGGGTCTCATTCTATTGCCCAGCCTGGAGTGCAGCAGCAGGATCACAGATCACTGCAGCCTCAACCTCCCCAGGCTCAGATGATTCTCCCACCTCTGCCTACCGAGGAGCTGGGACTACCAGCACATGCCAACTGGCTGGGGATGGGGAGAGGAGAGGAGAGGAGAGAAGAAAAGTGGTTACTCCCTGTCCCTTGAGTCCCCATTGTTCCGTGTTGATCAACTGCAGCATCTGTATAACATTATATTACATACAGAGACGACAGGTAGGGACCTAGAATCCAAAAAGATCTACTAAACCAAGCTTATCCAACCTGTGGCCCACAGGCTGCATGTAGCCCAGGATGGCTTTGAATGCAGCCCAACACAAATTCGTAAACTCTATTAAAACACTGAGAATTCTTTTTGCGATTTTTTTTTTTTTTTTAGCTCATCAACTATTGTTAGTGTTAGTGTATTTTATGTGTGGCCCAAGGGAATGTGGCCCAGGGAAGCCAAAAGACTGGACACCCCTGTACTAAACTCCTGGGGCATGGGGGAACTGAACTACCAGGAGACTTTTTTTTCTATGTTTGAATCATTATGTTCAGTATGTTGGCCCATGCCTGTAATCCCAGTGCTTTGAGACACCAGGTGGGGAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAACAAGGCCCCATCTCAAAAAAAAAAAAATTTTTTTTCTTAAATTATAAACGGGGGGTATGCTTGGCAAAAGTGATTACAGTCATTACTTCAAGCAGCATCTACTCAGAGATAATTAAATCAAAACATAAACCAAATCATGCTTATTAGTTTATGGCAGGCAATTCATTTTCTGAATGAATGATCAGCAAGTGCTACACGCTCAAATATTCTCTAAACTGATTAGTGGTGTTGTTAAAGTTAACATTTTCCTAGACATTACTGATGCTCTGTTTTAATGCTGGACAACGTTACTCCTACCAGCCGTGCCCTCAGTGAAACAGACTCAAAAGAGGGGAAGAATAGGGGGTGGGTACTACTTGAGTTCAGAGCAGAAGGA
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GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTCCCGAAATTGGACAGAATGGTTAAGGATATAGCTCTTCCTTTTGGGTTTTTCTACCAGTAGGCTTCTAGCACCTGAATTTTCACACACTGCACCACAGACCTTCTCCAAACGCCTCTCCGACCCCACAGCTTCTGCACCCAGCTGCGTCCGCCAGCACGAGGCGCAGTAGGAAACGCCCCAGTGCAGAGTGGGTGACGGCAGTGTGATCCCTGAGGAGGGAGCTGCAGCAGCTTCAGAAGCGGGATGTTCTCTGAAAATACCAACACGATCCATGACATACAGACCTGAATTTTCTCTATTTTTGTGGCGTTTCACGTTTCTCTCAAGAGGATTAATAATTTTGGTGGTGGATTTACGTTAAGAGGAAAGAAGGACCAAAAAAAAAAAATCCCACAGCCACCTGACCTGAAGTCGCTTTCATTCTCATTTAGCCTAGGAGACCGATCAACAGCAAAACCAACCTGGATAAGGCTGAATAAGGATGTTAAAGCCCAAACAACTAGCAAAGGAAAAGTACACAATCGATGGCTTGATGTTACATATGGCTGTAATGTAGAAATACTGTAAACTGCAATTTAGTGTTAATACTGTCAACTAATCAGAGACTTCGGAAAACTGGCAAGGCCTAAACCATAAGGATGAATGAGACCTCAGGTTCTAAGTCTGTCAGTCTGGGATTTACACTGTTCCATGTCTGTAGGCTACACCCTGGAAAACATGCAGAGCCGAGACAGATGAGATAGAAAGTACCCAAAACGAGAGACGAGAGCGTATGTACATAAAAATCCTTACTGGAACCACAGAACTTACTGAATGAGGGCCATTCCTCTTTAAGTTTTCTTTTCATCTGAAAACCCTATTATCTAGCAATAAGTTAAATTAGAGACAGACAGCTCCACTTGCATGAATCTACAGAACAGTCCAGACGCCAGTGTGAGGCTGCTATTCCAATACCAGCACAGCTAGCCTGACTTTCCACTAGTGGTATTTTGGCAAAAATGTCAAAGAGGCGATCAAAGACAGGACAGGTCGTGGGTTTCTCCCTGGGAAGGTCATCCCTCCCTTTCCCTCCCCCACCCGACCCCCAACTCATGGGAAAAAAATAAAGACTGCAGTAGTAGCATCCGCGTGCGCTGCCAGTTCCCCTGGGGCCTTAATTGTTGCCTTCGCCGCCATCGTCGTCCTGCTGGTCGCTCGTCCAGAGCGTGAGGTTGTCGCGGAGGAGCTGCATGATGAGCGTGGAGTCCTTGTAGGAGTCCTCGTTGAGGGTGTCAAGCTCGGCGATGGCGTCGTCGAACGCGGTCTTGGCCAAGTGGCACGCTTGCTCTGGGGCGTTCTGGATCTCATAGTAGAAGACGGAGTAGTTAAGAGCCAGGCCTAATCGGATGGGGTGGGTGGGCTGCATGTGCTCTTTGCTGATCTCGTGGGCTTCGCTGTAGGCCTTCTCGGAGGACTCCACCACCGTCGCCCTTTTCTCTCCGGTGGCCACTTCAGCCAGGTAGCGGTAGTAGTCCCCTTTCATCTTCAGGTAGAACACTTTGCTCTCGTACTGGGTCTCGCTGCAATTCTTGATCAGGTAGTTATCCAGCAGGCTCAGCACATCCTGGCACACAGCCTCCAACTCCTTCTCTATCTTCTCCCGGTACGCACGGACCATCTCAATCTTCTTCTCATTGCCGTCTGCAGATGTCTTCTGCTCAATGCTACTGATGACCCTCCAGGAAGAGCAGCGTGCCCCCACAACGTTCTTGTAGGCCACAGACAGAAGGTTTCGTTCCTCATTCGACAGTGGCTCATTCAGCTCTGTCACCTGCCAGGAGGAAAGAACAGAGTTGTTATGGTACAGATGGTGTCCACTGGGTTAACTGTATCTTTGAGACACTAGAACAGAGCTCTGTTGAGTAACATGATGAACAGAAGGAAATTACTTTGTGTGGGCTGGGGGAAGGGGGCTGGAGGTGGAGCACACACAAGGGAGGGAAAAGTGCGGCTGGATCAATGGATCAACGGTGTCTGAACCCTGGCTTCCTCCCCAGAAAAGGACACAGGCTTATCACGTGTGTTCCACAAAACACTGTCAAGTCTAGGCCTTAGATGAGAGACTATGAGTACAGATGGTCTAACTCAGTGGTTTTTTAGGAAAACGGACTGACAAATTCCTCCTAATCCTGCCCTGTCTACTAAACTTCAGTCCCATCTCTTCTGGATAAGAAAATACTGAGTCAACTTCAAGCTGACTTCTGAGAAACATGGAGGCCTTTCTGCTCATATGCCAACACCATGTGAATTCTAAACCTCAGGGAGTCCAAATAAGGGGCATAGGATTGAGTCTGATCGCTGTGATACTTTAGCAACCCAGGGAACATGTTATTTGTGGCAGTGGGAGTGTCTGACTGAATACAACTTTACAACCAGCAATACAAAAGAACGAGGCGAGCACAGCGCCTCTAGCTGGGCAACAGGAATCAATGCTTCTCCCAAGATGGCCATTTCTCAAGGCTCCCGCCCTCATCACCCCCAAGGCTAATCACTTTCAGAAGACTAAAGTGGCATCTCAAACCAATGTTGTATATTTTTATGACTACAAATAACTGCTTATTAATATCAGCCAATAATACTAAATTTATTTACCTGGTTTCTATAGTATCAGAGTCATATACTATTACATTACTTGACAACCATATGAAATACATTATTATTATTATTATATTTGACACAGGGTCTCATTCTATTGCCCAGCCTGGAGTGCAGCAGCAGGATCACAGATCACTGCAGCCTCAACCTCCCCAGGCTCAGATGATTCTCCCACCTCTGCCTACCGAGGAGCTGGGACTACCAGCACATGCCAACTGGCTGGGGATGGGGAGAGGAGAGGAGAGGAGAGAAGAAAAGTGGTTACTCCCTGTCCCTTGAGTCCCCATTGTTCCGTGTTGATCAACTGCAGCATCTGTATAACATTATATTACATACAGAGACGACAGGTAGGGACCTAGAATCCAAAAAGATCTACTAAACCAAGCTTATCCAACCTGTGGCCCACAGGCTGCATGTAGCCCAGGATGGCTTTGAATGCAGCCCAACACAAATTCGTAAACTCTATTAAAACACTGAGAATTCTTTTTGCGATTTTTTTTTTTTTTTTAGCTCATCAACTATTGTTAGTGTTAGTGTATTTTATGTGTGGCCCAAGGGAATGTGGCCCAGGGAAGCCAAAAGACTGGACACCCCTGTACTAAACTCCTGGGGCATGGGGGAACTGAACTACCAGGAGACTTTTTTTTCTATGTTTGAATCATTATGTTCAGTATGTTGGCCCATGCCTGTAATCCCAGTGCTTTGAGACACCAGGTGGGGAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAACAAGGCCCCATCTCAAAAAAAAAAAAATTTTTTTTCTTAAATTATAAACGGGGGGTATGCTTGGCAAAAGTGATTACAGTCATTACTTCAAGCAGCATCTACTCAGAGATAATTAAATCAAAACATAAACCAAATCATGCTTATTAGTTTATGGCAGGCAATTCATTTTCTGAATGAATGATCAGCAAGTGCTACACGCTCAAATATTCTCTAAACTGATTAGTGGTGTTGTTAAAGTTAACATTTTCCTAGACATTACTGATGCTCTGTTTTAATGCTGGACAACGTTACTCCTACCAGCCGTGCCCTCAGTGAAACAGACTCAAAAGAGGGGAAGAATAGGGGGTGGGTACTACTTGAGTTCAGAGCAGAAGGA
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Task1_train_11298
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A mutation found in YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Seizure
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GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTCCCGAAATTGGACAGAATGGTTAAGGATATAGCTCTTCCTTTTGGGTTTTTCTACCAGTAGGCTTCTAGCACCTGAATTTTCACACACTGCACCACAGACCTTCTCCAAACGCCTCTCCGACCCCACAGCTTCTGCACCCAGCTGCGTCCGCCAGCACGAGGCGCAGTAGGAAACGCCCCAGTGCAGAGTGGGTGACGGCAGTGTGATCCCTGAGGAGGGAGCTGCAGCAGCTTCAGAAGCGGGATGTTCTCTGAAAATACCAACACGATCCATGACATACAGACCTGAATTTTCTCTATTTTTGTGGCGTTTCACGTTTCTCTCAAGAGGATTAATAATTTTGGTGGTGGATTTACGTTAAGAGGAAAGAAGGACCAAAAAAAAAAAATCCCACAGCCACCTGACCTGAAGTCGCTTTCATTCTCATTTAGCCTAGGAGACCGATCAACAGCAAAACCAACCTGGATAAGGCTGAATAAGGATGTTAAAGCCCAAACAACTAGCAAAGGAAAAGTACACAATCGATGGCTTGATGTTACATATGGCTGTAATGTAGAAATACTGTAAACTGCAATTTAGTGTTAATACTGTCAACTAATCAGAGACTTCGGAAAACTGGCAAGGCCTAAACCATAAGGATGAATGAGACCTCAGGTTCTAAGTCTGTCAGTCTGGGATTTACACTGTTCCATGTCTGTAGGCTACACCCTGGAAAACATGCAGAGCCGAGACAGATGAGATAGAAAGTACCCAAAACGAGAGACGAGAGCGTATGTACATAAAAATCCTTACTGGAACCACAGAACTTACTGAATGAGGGCCATTCCTCTTTAAGTTTTCTTTTCATCTGAAAACCCTATTATCTAGCAATAAGTTAAATTAGAGACAGACAGCTCCACTTGCATGAATCTACAGAACAGTCCAGACGCCAGTGTGAGGCTGCTATTCCAATACCAGCACAGCTAGCCTGACTTTCCACTAGTGGTATTTTGGCAAAAATGTCAAAGAGGCGATCAAAGACAGGACAGGTCGTGGGTTTCTCCCTGGGAAGGTCATCCCTCCCTTTCCCTCCCCCACCCGACCCCCAACTCATGGGAAAAAAATAAAGACTGCAGTAGTAGCATCCGCGTGCGCTGCCAGTTCCCCTGGGGCCTTAATTGTTGCCTTCGCCGCCATCGTCGTCCTGCTGGTCGCTCGTCCAGAGCGTGAGGTTGTCGCGGAGGAGCTGCATGATGAGCGTGGAGTCCTTGTAGGAGTCCTCGTTGAGGGTGTCAAGCTCGGCGATGGCGTCGTCGAACGCGGTCTTGGCCAAGTGGCACGCTTGCTCTGGGGCGTTCTGGATCTCATAGTAGAAGACGGAGTAGTTAAGAGCCAGGCCTAATCGGATGGGGTGGGTGGGCTGCATGTGCTCTTTGCTGATCTCGTGGGCTTCGCTGTAGGCCTTCTCGGAGGACTCCACCACCGTCGCCCTTTTCTCTCCGGTGGCCACTTCAGCCAGGTAGCGGTAGTAGTCCCCTTTCATCTTCAGGTAGAACACTTTGCTCTCGTACTGGGTCTCGCTGCAATTCTTGATCAGGTAGTTATCCAGCAGGCTCAGCACATCCTGGCACACAGCCTCCAACTCCTTCTCTATCTTCTCCCGGTACGCACGGACCATCTCAATCTTCTTCTCATTGCCGTCTGCAGATGTCTTCTGCTCAATGCTACTGATGACCCTCCAGGAAGAGCGGCGTGCCCCCACAACGTTCTTGTAGGCCACAGACAGAAGGTTTCGTTCCTCATTCGACAGTGGCTCATTCAGCTCTGTCACCTGCCAGGAGGAAAGAACAGAGTTGTTATGGTACAGATGGTGTCCACTGGGTTAACTGTATCTTTGAGACACTAGAACAGAGCTCTGTTGAGTAACATGATGAACAGAAGGAAATTACTTTGTGTGGGCTGGGGGAAGGGGGCTGGAGGTGGAGCACACACAAGGGAGGGAAAAGTGCGGCTGGATCAATGGATCAACGGTGTCTGAACCCTGGCTTCCTCCCCAGAAAAGGACACAGGCTTATCACGTGTGTTCCACAAAACACTGTCAAGTCTAGGCCTTAGATGAGAGACTATGAGTACAGATGGTCTAACTCAGTGGTTTTTTAGGAAAACGGACTGACAAATTCCTCCTAATCCTGCCCTGTCTACTAAACTTCAGTCCCATCTCTTCTGGATAAGAAAATACTGAGTCAACTTCAAGCTGACTTCTGAGAAACATGGAGGCCTTTCTGCTCATATGCCAACACCATGTGAATTCTAAACCTCAGGGAGTCCAAATAAGGGGCATAGGATTGAGTCTGATCGCTGTGATACTTTAGCAACCCAGGGAACATGTTATTTGTGGCAGTGGGAGTGTCTGACTGAATACAACTTTACAACCAGCAATACAAAAGAACGAGGCGAGCACAGCGCCTCTAGCTGGGCAACAGGAATCAATGCTTCTCCCAAGATGGCCATTTCTCAAGGCTCCCGCCCTCATCACCCCCAAGGCTAATCACTTTCAGAAGACTAAAGTGGCATCTCAAACCAATGTTGTATATTTTTATGACTACAAATAACTGCTTATTAATATCAGCCAATAATACTAAATTTATTTACCTGGTTTCTATAGTATCAGAGTCATATACTATTACATTACTTGACAACCATATGAAATACATTATTATTATTATTATATTTGACACAGGGTCTCATTCTATTGCCCAGCCTGGAGTGCAGCAGCAGGATCACAGATCACTGCAGCCTCAACCTCCCCAGGCTCAGATGATTCTCCCACCTCTGCCTACCGAGGAGCTGGGACTACCAGCACATGCCAACTGGCTGGGGATGGGGAGAGGAGAGGAGAGGAGAGAAGAAAAGTGGTTACTCCCTGTCCCTTGAGTCCCCATTGTTCCGTGTTGATCAACTGCAGCATCTGTATAACATTATATTACATACAGAGACGACAGGTAGGGACCTAGAATCCAAAAAGATCTACTAAACCAAGCTTATCCAACCTGTGGCCCACAGGCTGCATGTAGCCCAGGATGGCTTTGAATGCAGCCCAACACAAATTCGTAAACTCTATTAAAACACTGAGAATTCTTTTTGCGATTTTTTTTTTTTTTTTAGCTCATCAACTATTGTTAGTGTTAGTGTATTTTATGTGTGGCCCAAGGGAATGTGGCCCAGGGAAGCCAAAAGACTGGACACCCCTGTACTAAACTCCTGGGGCATGGGGGAACTGAACTACCAGGAGACTTTTTTTTCTATGTTTGAATCATTATGTTCAGTATGTTGGCCCATGCCTGTAATCCCAGTGCTTTGAGACACCAGGTGGGGAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAACAAGGCCCCATCTCAAAAAAAAAAAAATTTTTTTTCTTAAATTATAAACGGGGGGTATGCTTGGCAAAAGTGATTACAGTCATTACTTCAAGCAGCATCTACTCAGAGATAATTAAATCAAAACATAAACCAAATCATGCTTATTAGTTTATGGCAGGCAATTCATTTTCTGAATGAATGATCAGCAAGTGCTACACGCTCAAATATTCTCTAAACTGATTAGTGGTGTTGTTAAAGTTAACATTTTCCTAGACATTACTGATGCTCTGTTTTAATGCTGGACAACGTTACTCCTACCAGCCGTGCCCTCAGTGAAACAGACTCAAAAGAGGGGAAGAATAGGGGGTGGGTACTACTTGAGTTCAGAGCAGAAGGA
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GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTCCCGAAATTGGACAGAATGGTTAAGGATATAGCTCTTCCTTTTGGGTTTTTCTACCAGTAGGCTTCTAGCACCTGAATTTTCACACACTGCACCACAGACCTTCTCCAAACGCCTCTCCGACCCCACAGCTTCTGCACCCAGCTGCGTCCGCCAGCACGAGGCGCAGTAGGAAACGCCCCAGTGCAGAGTGGGTGACGGCAGTGTGATCCCTGAGGAGGGAGCTGCAGCAGCTTCAGAAGCGGGATGTTCTCTGAAAATACCAACACGATCCATGACATACAGACCTGAATTTTCTCTATTTTTGTGGCGTTTCACGTTTCTCTCAAGAGGATTAATAATTTTGGTGGTGGATTTACGTTAAGAGGAAAGAAGGACCAAAAAAAAAAAATCCCACAGCCACCTGACCTGAAGTCGCTTTCATTCTCATTTAGCCTAGGAGACCGATCAACAGCAAAACCAACCTGGATAAGGCTGAATAAGGATGTTAAAGCCCAAACAACTAGCAAAGGAAAAGTACACAATCGATGGCTTGATGTTACATATGGCTGTAATGTAGAAATACTGTAAACTGCAATTTAGTGTTAATACTGTCAACTAATCAGAGACTTCGGAAAACTGGCAAGGCCTAAACCATAAGGATGAATGAGACCTCAGGTTCTAAGTCTGTCAGTCTGGGATTTACACTGTTCCATGTCTGTAGGCTACACCCTGGAAAACATGCAGAGCCGAGACAGATGAGATAGAAAGTACCCAAAACGAGAGACGAGAGCGTATGTACATAAAAATCCTTACTGGAACCACAGAACTTACTGAATGAGGGCCATTCCTCTTTAAGTTTTCTTTTCATCTGAAAACCCTATTATCTAGCAATAAGTTAAATTAGAGACAGACAGCTCCACTTGCATGAATCTACAGAACAGTCCAGACGCCAGTGTGAGGCTGCTATTCCAATACCAGCACAGCTAGCCTGACTTTCCACTAGTGGTATTTTGGCAAAAATGTCAAAGAGGCGATCAAAGACAGGACAGGTCGTGGGTTTCTCCCTGGGAAGGTCATCCCTCCCTTTCCCTCCCCCACCCGACCCCCAACTCATGGGAAAAAAATAAAGACTGCAGTAGTAGCATCCGCGTGCGCTGCCAGTTCCCCTGGGGCCTTAATTGTTGCCTTCGCCGCCATCGTCGTCCTGCTGGTCGCTCGTCCAGAGCGTGAGGTTGTCGCGGAGGAGCTGCATGATGAGCGTGGAGTCCTTGTAGGAGTCCTCGTTGAGGGTGTCAAGCTCGGCGATGGCGTCGTCGAACGCGGTCTTGGCCAAGTGGCACGCTTGCTCTGGGGCGTTCTGGATCTCATAGTAGAAGACGGAGTAGTTAAGAGCCAGGCCTAATCGGATGGGGTGGGTGGGCTGCATGTGCTCTTTGCTGATCTCGTGGGCTTCGCTGTAGGCCTTCTCGGAGGACTCCACCACCGTCGCCCTTTTCTCTCCGGTGGCCACTTCAGCCAGGTAGCGGTAGTAGTCCCCTTTCATCTTCAGGTAGAACACTTTGCTCTCGTACTGGGTCTCGCTGCAATTCTTGATCAGGTAGTTATCCAGCAGGCTCAGCACATCCTGGCACACAGCCTCCAACTCCTTCTCTATCTTCTCCCGGTACGCACGGACCATCTCAATCTTCTTCTCATTGCCGTCTGCAGATGTCTTCTGCTCAATGCTACTGATGACCCTCCAGGAAGAGCAGCGTGCCCCCACAACGTTCTTGTAGGCCACAGACAGAAGGTTTCGTTCCTCATTCGACAGTGGCTCATTCAGCTCTGTCACCTGCCAGGAGGAAAGAACAGAGTTGTTATGGTACAGATGGTGTCCACTGGGTTAACTGTATCTTTGAGACACTAGAACAGAGCTCTGTTGAGTAACATGATGAACAGAAGGAAATTACTTTGTGTGGGCTGGGGGAAGGGGGCTGGAGGTGGAGCACACACAAGGGAGGGAAAAGTGCGGCTGGATCAATGGATCAACGGTGTCTGAACCCTGGCTTCCTCCCCAGAAAAGGACACAGGCTTATCACGTGTGTTCCACAAAACACTGTCAAGTCTAGGCCTTAGATGAGAGACTATGAGTACAGATGGTCTAACTCAGTGGTTTTTTAGGAAAACGGACTGACAAATTCCTCCTAATCCTGCCCTGTCTACTAAACTTCAGTCCCATCTCTTCTGGATAAGAAAATACTGAGTCAACTTCAAGCTGACTTCTGAGAAACATGGAGGCCTTTCTGCTCATATGCCAACACCATGTGAATTCTAAACCTCAGGGAGTCCAAATAAGGGGCATAGGATTGAGTCTGATCGCTGTGATACTTTAGCAACCCAGGGAACATGTTATTTGTGGCAGTGGGAGTGTCTGACTGAATACAACTTTACAACCAGCAATACAAAAGAACGAGGCGAGCACAGCGCCTCTAGCTGGGCAACAGGAATCAATGCTTCTCCCAAGATGGCCATTTCTCAAGGCTCCCGCCCTCATCACCCCCAAGGCTAATCACTTTCAGAAGACTAAAGTGGCATCTCAAACCAATGTTGTATATTTTTATGACTACAAATAACTGCTTATTAATATCAGCCAATAATACTAAATTTATTTACCTGGTTTCTATAGTATCAGAGTCATATACTATTACATTACTTGACAACCATATGAAATACATTATTATTATTATTATATTTGACACAGGGTCTCATTCTATTGCCCAGCCTGGAGTGCAGCAGCAGGATCACAGATCACTGCAGCCTCAACCTCCCCAGGCTCAGATGATTCTCCCACCTCTGCCTACCGAGGAGCTGGGACTACCAGCACATGCCAACTGGCTGGGGATGGGGAGAGGAGAGGAGAGGAGAGAAGAAAAGTGGTTACTCCCTGTCCCTTGAGTCCCCATTGTTCCGTGTTGATCAACTGCAGCATCTGTATAACATTATATTACATACAGAGACGACAGGTAGGGACCTAGAATCCAAAAAGATCTACTAAACCAAGCTTATCCAACCTGTGGCCCACAGGCTGCATGTAGCCCAGGATGGCTTTGAATGCAGCCCAACACAAATTCGTAAACTCTATTAAAACACTGAGAATTCTTTTTGCGATTTTTTTTTTTTTTTTAGCTCATCAACTATTGTTAGTGTTAGTGTATTTTATGTGTGGCCCAAGGGAATGTGGCCCAGGGAAGCCAAAAGACTGGACACCCCTGTACTAAACTCCTGGGGCATGGGGGAACTGAACTACCAGGAGACTTTTTTTTCTATGTTTGAATCATTATGTTCAGTATGTTGGCCCATGCCTGTAATCCCAGTGCTTTGAGACACCAGGTGGGGAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAACAAGGCCCCATCTCAAAAAAAAAAAAATTTTTTTTCTTAAATTATAAACGGGGGGTATGCTTGGCAAAAGTGATTACAGTCATTACTTCAAGCAGCATCTACTCAGAGATAATTAAATCAAAACATAAACCAAATCATGCTTATTAGTTTATGGCAGGCAATTCATTTTCTGAATGAATGATCAGCAAGTGCTACACGCTCAAATATTCTCTAAACTGATTAGTGGTGTTGTTAAAGTTAACATTTTCCTAGACATTACTGATGCTCTGTTTTAATGCTGGACAACGTTACTCCTACCAGCCGTGCCCTCAGTGAAACAGACTCAAAAGAGGGGAAGAATAGGGGGTGGGTACTACTTGAGTTCAGAGCAGAAGGA
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Task1_train_11299
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Here is a genetic alteration in YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Failure to thrive
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GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTCCCGAAATTGGACAGAATGGTTAAGGATATAGCTCTTCCTTTTGGGTTTTTCTACCAGTAGGCTTCTAGCACCTGAATTTTCACACACTGCACCACAGACCTTCTCCAAACGCCTCTCCGACCCCACAGCTTCTGCACCCAGCTGCGTCCGCCAGCACGAGGCGCAGTAGGAAACGCCCCAGTGCAGAGTGGGTGACGGCAGTGTGATCCCTGAGGAGGGAGCTGCAGCAGCTTCAGAAGCGGGATGTTCTCTGAAAATACCAACACGATCCATGACATACAGACCTGAATTTTCTCTATTTTTGTGGCGTTTCACGTTTCTCTCAAGAGGATTAATAATTTTGGTGGTGGATTTACGTTAAGAGGAAAGAAGGACCAAAAAAAAAAAATCCCACAGCCACCTGACCTGAAGTCGCTTTCATTCTCATTTAGCCTAGGAGACCGATCAACAGCAAAACCAACCTGGATAAGGCTGAATAAGGATGTTAAAGCCCAAACAACTAGCAAAGGAAAAGTACACAATCGATGGCTTGATGTTACATATGGCTGTAATGTAGAAATACTGTAAACTGCAATTTAGTGTTAATACTGTCAACTAATCAGAGACTTCGGAAAACTGGCAAGGCCTAAACCATAAGGATGAATGAGACCTCAGGTTCTAAGTCTGTCAGTCTGGGATTTACACTGTTCCATGTCTGTAGGCTACACCCTGGAAAACATGCAGAGCCGAGACAGATGAGATAGAAAGTACCCAAAACGAGAGACGAGAGCGTATGTACATAAAAATCCTTACTGGAACCACAGAACTTACTGAATGAGGGCCATTCCTCTTTAAGTTTTCTTTTCATCTGAAAACCCTATTATCTAGCAATAAGTTAAATTAGAGACAGACAGCTCCACTTGCATGAATCTACAGAACAGTCCAGACGCCAGTGTGAGGCTGCTATTCCAATACCAGCACAGCTAGCCTGACTTTCCACTAGTGGTATTTTGGCAAAAATGTCAAAGAGGCGATCAAAGACAGGACAGGTCGTGGGTTTCTCCCTGGGAAGGTCATCCCTCCCTTTCCCTCCCCCACCCGACCCCCAACTCATGGGAAAAAAATAAAGACTGCAGTAGTAGCATCCGCGTGCGCTGCCAGTTCCCCTGGGGCCTTAATTGTTGCCTTCGCCGCCATCGTCGTCCTGCTGGTCGCTCGTCCAGAGCGTGAGGTTGTCGCGGAGGAGCTGCATGATGAGCGTGGAGTCCTTGTAGGAGTCCTCGTTGAGGGTGTCAAGCTCGGCGATGGCGTCGTCGAACGCGGTCTTGGCCAAGTGGCACGCTTGCTCTGGGGCGTTCTGGATCTCATAGTAGAAGACGGAGTAGTTAAGAGCCAGGCCTAATCGGATGGGGTGGGTGGGCTGCATGTGCTCTTTGCTGATCTCGTGGGCTTCGCTGTAGGCCTTCTCGGAGGACTCCACCACCGTCGCCCTTTTCTCTCCGGTGGCCACTTCAGCCAGGTAGCGGTAGTAGTCCCCTTTCATCTTCAGGTAGAACACTTTGCTCTCGTACTGGGTCTCGCTGCAATTCTTGATCAGGTAGTTATCCAGCAGGCTCAGCACATCCTGGCACACAGCCTCCAACTCCTTCTCTATCTTCTCCCGGTACGCACGGACCATCTCAATCTTCTTCTCATTGCCGTCTGCAGATGTCTTCTGCTCAATGCTACTGATGACCCTCCAGGAAGAGCGGCGTGCCCCCACAACGTTCTTGTAGGCCACAGACAGAAGGTTTCGTTCCTCATTCGACAGTGGCTCATTCAGCTCTGTCACCTGCCAGGAGGAAAGAACAGAGTTGTTATGGTACAGATGGTGTCCACTGGGTTAACTGTATCTTTGAGACACTAGAACAGAGCTCTGTTGAGTAACATGATGAACAGAAGGAAATTACTTTGTGTGGGCTGGGGGAAGGGGGCTGGAGGTGGAGCACACACAAGGGAGGGAAAAGTGCGGCTGGATCAATGGATCAACGGTGTCTGAACCCTGGCTTCCTCCCCAGAAAAGGACACAGGCTTATCACGTGTGTTCCACAAAACACTGTCAAGTCTAGGCCTTAGATGAGAGACTATGAGTACAGATGGTCTAACTCAGTGGTTTTTTAGGAAAACGGACTGACAAATTCCTCCTAATCCTGCCCTGTCTACTAAACTTCAGTCCCATCTCTTCTGGATAAGAAAATACTGAGTCAACTTCAAGCTGACTTCTGAGAAACATGGAGGCCTTTCTGCTCATATGCCAACACCATGTGAATTCTAAACCTCAGGGAGTCCAAATAAGGGGCATAGGATTGAGTCTGATCGCTGTGATACTTTAGCAACCCAGGGAACATGTTATTTGTGGCAGTGGGAGTGTCTGACTGAATACAACTTTACAACCAGCAATACAAAAGAACGAGGCGAGCACAGCGCCTCTAGCTGGGCAACAGGAATCAATGCTTCTCCCAAGATGGCCATTTCTCAAGGCTCCCGCCCTCATCACCCCCAAGGCTAATCACTTTCAGAAGACTAAAGTGGCATCTCAAACCAATGTTGTATATTTTTATGACTACAAATAACTGCTTATTAATATCAGCCAATAATACTAAATTTATTTACCTGGTTTCTATAGTATCAGAGTCATATACTATTACATTACTTGACAACCATATGAAATACATTATTATTATTATTATATTTGACACAGGGTCTCATTCTATTGCCCAGCCTGGAGTGCAGCAGCAGGATCACAGATCACTGCAGCCTCAACCTCCCCAGGCTCAGATGATTCTCCCACCTCTGCCTACCGAGGAGCTGGGACTACCAGCACATGCCAACTGGCTGGGGATGGGGAGAGGAGAGGAGAGGAGAGAAGAAAAGTGGTTACTCCCTGTCCCTTGAGTCCCCATTGTTCCGTGTTGATCAACTGCAGCATCTGTATAACATTATATTACATACAGAGACGACAGGTAGGGACCTAGAATCCAAAAAGATCTACTAAACCAAGCTTATCCAACCTGTGGCCCACAGGCTGCATGTAGCCCAGGATGGCTTTGAATGCAGCCCAACACAAATTCGTAAACTCTATTAAAACACTGAGAATTCTTTTTGCGATTTTTTTTTTTTTTTTAGCTCATCAACTATTGTTAGTGTTAGTGTATTTTATGTGTGGCCCAAGGGAATGTGGCCCAGGGAAGCCAAAAGACTGGACACCCCTGTACTAAACTCCTGGGGCATGGGGGAACTGAACTACCAGGAGACTTTTTTTTCTATGTTTGAATCATTATGTTCAGTATGTTGGCCCATGCCTGTAATCCCAGTGCTTTGAGACACCAGGTGGGGAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAACAAGGCCCCATCTCAAAAAAAAAAAAATTTTTTTTCTTAAATTATAAACGGGGGGTATGCTTGGCAAAAGTGATTACAGTCATTACTTCAAGCAGCATCTACTCAGAGATAATTAAATCAAAACATAAACCAAATCATGCTTATTAGTTTATGGCAGGCAATTCATTTTCTGAATGAATGATCAGCAAGTGCTACACGCTCAAATATTCTCTAAACTGATTAGTGGTGTTGTTAAAGTTAACATTTTCCTAGACATTACTGATGCTCTGTTTTAATGCTGGACAACGTTACTCCTACCAGCCGTGCCCTCAGTGAAACAGACTCAAAAGAGGGGAAGAATAGGGGGTGGGTACTACTTGAGTTCAGAGCAGAAGGA
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GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTCCCGAAATTGGACAGAATGGTTAAGGATATAGCTCTTCCTTTTGGGTTTTTCTACCAGTAGGCTTCTAGCACCTGAATTTTCACACACTGCACCACAGACCTTCTCCAAACGCCTCTCCGACCCCACAGCTTCTGCACCCAGCTGCGTCCGCCAGCACGAGGCGCAGTAGGAAACGCCCCAGTGCAGAGTGGGTGACGGCAGTGTGATCCCTGAGGAGGGAGCTGCAGCAGCTTCAGAAGCGGGATGTTCTCTGAAAATACCAACACGATCCATGACATACAGACCTGAATTTTCTCTATTTTTGTGGCGTTTCACGTTTCTCTCAAGAGGATTAATAATTTTGGTGGTGGATTTACGTTAAGAGGAAAGAAGGACCAAAAAAAAAAAATCCCACAGCCACCTGACCTGAAGTCGCTTTCATTCTCATTTAGCCTAGGAGACCGATCAACAGCAAAACCAACCTGGATAAGGCTGAATAAGGATGTTAAAGCCCAAACAACTAGCAAAGGAAAAGTACACAATCGATGGCTTGATGTTACATATGGCTGTAATGTAGAAATACTGTAAACTGCAATTTAGTGTTAATACTGTCAACTAATCAGAGACTTCGGAAAACTGGCAAGGCCTAAACCATAAGGATGAATGAGACCTCAGGTTCTAAGTCTGTCAGTCTGGGATTTACACTGTTCCATGTCTGTAGGCTACACCCTGGAAAACATGCAGAGCCGAGACAGATGAGATAGAAAGTACCCAAAACGAGAGACGAGAGCGTATGTACATAAAAATCCTTACTGGAACCACAGAACTTACTGAATGAGGGCCATTCCTCTTTAAGTTTTCTTTTCATCTGAAAACCCTATTATCTAGCAATAAGTTAAATTAGAGACAGACAGCTCCACTTGCATGAATCTACAGAACAGTCCAGACGCCAGTGTGAGGCTGCTATTCCAATACCAGCACAGCTAGCCTGACTTTCCACTAGTGGTATTTTGGCAAAAATGTCAAAGAGGCGATCAAAGACAGGACAGGTCGTGGGTTTCTCCCTGGGAAGGTCATCCCTCCCTTTCCCTCCCCCACCCGACCCCCAACTCATGGGAAAAAAATAAAGACTGCAGTAGTAGCATCCGCGTGCGCTGCCAGTTCCCCTGGGGCCTTAATTGTTGCCTTCGCCGCCATCGTCGTCCTGCTGGTCGCTCGTCCAGAGCGTGAGGTTGTCGCGGAGGAGCTGCATGATGAGCGTGGAGTCCTTGTAGGAGTCCTCGTTGAGGGTGTCAAGCTCGGCGATGGCGTCGTCGAACGCGGTCTTGGCCAAGTGGCACGCTTGCTCTGGGGCGTTCTGGATCTCATAGTAGAAGACGGAGTAGTTAAGAGCCAGGCCTAATCGGATGGGGTGGGTGGGCTGCATGTGCTCTTTGCTGATCTCGTGGGCTTCGCTGTAGGCCTTCTCGGAGGACTCCACCACCGTCGCCCTTTTCTCTCCGGTGGCCACTTCAGCCAGGTAGCGGTAGTAGTCCCCTTTCATCTTCAGGTAGAACACTTTGCTCTCGTACTGGGTCTCGCTGCAATTCTTGATCAGGTAGTTATCCAGCAGGCTCAGCACATCCTGGCACACAGCCTCCAACTCCTTCTCTATCTTCTCCCGGTACGCACGGACCATCTCAATCTTCTTCTCATTGCCGTCTGCAGATGTCTTCTGCTCAATGCTACTGATGACCCTCCAGGAAGAGCAGCGTGCCCCCACAACGTTCTTGTAGGCCACAGACAGAAGGTTTCGTTCCTCATTCGACAGTGGCTCATTCAGCTCTGTCACCTGCCAGGAGGAAAGAACAGAGTTGTTATGGTACAGATGGTGTCCACTGGGTTAACTGTATCTTTGAGACACTAGAACAGAGCTCTGTTGAGTAACATGATGAACAGAAGGAAATTACTTTGTGTGGGCTGGGGGAAGGGGGCTGGAGGTGGAGCACACACAAGGGAGGGAAAAGTGCGGCTGGATCAATGGATCAACGGTGTCTGAACCCTGGCTTCCTCCCCAGAAAAGGACACAGGCTTATCACGTGTGTTCCACAAAACACTGTCAAGTCTAGGCCTTAGATGAGAGACTATGAGTACAGATGGTCTAACTCAGTGGTTTTTTAGGAAAACGGACTGACAAATTCCTCCTAATCCTGCCCTGTCTACTAAACTTCAGTCCCATCTCTTCTGGATAAGAAAATACTGAGTCAACTTCAAGCTGACTTCTGAGAAACATGGAGGCCTTTCTGCTCATATGCCAACACCATGTGAATTCTAAACCTCAGGGAGTCCAAATAAGGGGCATAGGATTGAGTCTGATCGCTGTGATACTTTAGCAACCCAGGGAACATGTTATTTGTGGCAGTGGGAGTGTCTGACTGAATACAACTTTACAACCAGCAATACAAAAGAACGAGGCGAGCACAGCGCCTCTAGCTGGGCAACAGGAATCAATGCTTCTCCCAAGATGGCCATTTCTCAAGGCTCCCGCCCTCATCACCCCCAAGGCTAATCACTTTCAGAAGACTAAAGTGGCATCTCAAACCAATGTTGTATATTTTTATGACTACAAATAACTGCTTATTAATATCAGCCAATAATACTAAATTTATTTACCTGGTTTCTATAGTATCAGAGTCATATACTATTACATTACTTGACAACCATATGAAATACATTATTATTATTATTATATTTGACACAGGGTCTCATTCTATTGCCCAGCCTGGAGTGCAGCAGCAGGATCACAGATCACTGCAGCCTCAACCTCCCCAGGCTCAGATGATTCTCCCACCTCTGCCTACCGAGGAGCTGGGACTACCAGCACATGCCAACTGGCTGGGGATGGGGAGAGGAGAGGAGAGGAGAGAAGAAAAGTGGTTACTCCCTGTCCCTTGAGTCCCCATTGTTCCGTGTTGATCAACTGCAGCATCTGTATAACATTATATTACATACAGAGACGACAGGTAGGGACCTAGAATCCAAAAAGATCTACTAAACCAAGCTTATCCAACCTGTGGCCCACAGGCTGCATGTAGCCCAGGATGGCTTTGAATGCAGCCCAACACAAATTCGTAAACTCTATTAAAACACTGAGAATTCTTTTTGCGATTTTTTTTTTTTTTTTAGCTCATCAACTATTGTTAGTGTTAGTGTATTTTATGTGTGGCCCAAGGGAATGTGGCCCAGGGAAGCCAAAAGACTGGACACCCCTGTACTAAACTCCTGGGGCATGGGGGAACTGAACTACCAGGAGACTTTTTTTTCTATGTTTGAATCATTATGTTCAGTATGTTGGCCCATGCCTGTAATCCCAGTGCTTTGAGACACCAGGTGGGGAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATAACAAGGCCCCATCTCAAAAAAAAAAAAATTTTTTTTCTTAAATTATAAACGGGGGGTATGCTTGGCAAAAGTGATTACAGTCATTACTTCAAGCAGCATCTACTCAGAGATAATTAAATCAAAACATAAACCAAATCATGCTTATTAGTTTATGGCAGGCAATTCATTTTCTGAATGAATGATCAGCAAGTGCTACACGCTCAAATATTCTCTAAACTGATTAGTGGTGTTGTTAAAGTTAACATTTTCCTAGACATTACTGATGCTCTGTTTTAATGCTGGACAACGTTACTCCTACCAGCCGTGCCCTCAGTGAAACAGACTCAAAAGAGGGGAAGAATAGGGGGTGGGTACTACTTGAGTTCAGAGCAGAAGGA
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Subsets and Splits
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