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_23300
|
The variant affects gene GP1BA (glycoprotein Ib platelet subunit alpha), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Pseudo von Willebrand disease
|
GAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAAAACTTCTGGCCGGGTGCAGGGGCTCATGCCTGTAATTCCAGCACTCTGGAAGGCTGAGGCGGG
|
GAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATTGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAAAACTTCTGGCCGGGTGCAGGGGCTCATGCCTGTAATTCCAGCACTCTGGAAGGCTGAGGCGGG
|
Task1_train_23301
|
Consider a variant on Chromosome 17 in gene GP1BA (glycoprotein Ib platelet subunit alpha). Determine its clinical classification and disease relevance.
|
Pathogenic; Pseudo von Willebrand disease
|
ACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAAAACTTCTGGCCGGGTGCAGGGGCTCATGCCTGTAATTCCAGCACTCTGGAAGGCTGAGGCGGGTGGGTTGCT
|
ACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGATGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAAAACTTCTGGCCGGGTGCAGGGGCTCATGCCTGTAATTCCAGCACTCTGGAAGGCTGAGGCGGGTGGGTTGCT
|
Task1_train_23302
|
Mutation context: Chromosome 17, Gene GP1BA (glycoprotein Ib platelet subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Pseudo von Willebrand disease
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AAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAAAACTTCTGGCCGGGTGCAGGGGCTCATGCCTGTAATTCCAGCACTCTGGAAGGCTGAGGCGGGTGGGTTGCTTGAACCCAGGAGTTTGGCCCAGGCTTGGCAACATGGCAAAACCCGAC
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AAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTTACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAAAACTTCTGGCCGGGTGCAGGGGCTCATGCCTGTAATTCCAGCACTCTGGAAGGCTGAGGCGGGTGGGTTGCTTGAACCCAGGAGTTTGGCCCAGGCTTGGCAACATGGCAAAACCCGAC
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Task1_train_23303
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Chromosome 17 houses a mutation in gene SLC25A11 (solute carrier family 25 member 11). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Paragangliomas 6
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TCCAAGGCTTGGGGCCCAGAGAATGGGACTATGGAGACCCCCATCCCCCTCCAGATGGTCCTGAAGATCTCCCAAACCTGAAAGTCTGACCGAATCTCTCCCCAGGTGGAGGACCAACTCCTGAGCTTGGCAGTCAGGGAGTGCCAAGCACTGACCCCATCTGACAGTCCAGCTTCATCTCAAGGGAGATACCTCACAGTCTGTGCTCCAACTATCACAAGCCTATAGATCACCTGCTCCCCAACAGTGTTTTACTCTAAGCCTTTGCCCTCAGTCCAGCCAGGTGTGCTATCCTTGCCCCATCCCCAGCCAGTCTAACCACTCAGTCTGCAAGTCACTACTCCCAGGCGAGGCCAGGTGCTCCAAGTTACCCTGCAACACTATTGCTACACTCAGTTTCCCAACTGCTCCTGTATAATCTTGTCTTCTGGACCAGGAACTCCTTAAGGACAAGGTCTAGGCTTCAGGCATCTCACAATAGCCACCAAGGCGCAGGACAGTGTACACAGAGGCAGCAGCAGGGGCGCCAGGATGCTGAGCTCCACCTCTTCTGCTGATGAGGCTCTGCCAAAGGGACAGCTCCCACCTGCTGCCTGCCTGTCCCCTAGCCTGGCAAGCACTCCTCAGTTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGGGATTATGTGAGATGATCTGGGCATCGGTGGCATTCTTGGGCGAGTGGCTGGAGGAAACACACCGGGCCTGGGATTTGAGTTTTTCTGGCCCTGTCAGCTGCTGTGGCATGACAGATTTATACAGCATTTGCAAAAAACCAGCGGCTGCTTTTTCTTTAACAATTTTTCTTAAAAACTCCAGTTCCTATTCTCCAGCTTCTTTGTCCAGTCTCCTCCCCTCTCCTAGCCACCCCCCAGACTCTCCAGATTTGGGGCTGGTGTCATCAATCCAATTTATTAAGTCCTCAATGAGGGGGAGGAAGGGCCACATCTCCCTCTGCAGGCCCTTTGACCATCTTGATGGCTTCTGCTCCTCCCTGTCCCCTCAGCTCTGCCTTGGTTTCCCCACTGACAAAGGGGATCTTCTGCTGTCCTGTGTGCCCTGAAACTAAAACCCAGGGGGAGGCCAGAAATCCTCAGAAGTTTTCCAGCTCCCTGCAAGAATAGCCAAGGACAGAGAAATCACAGGATCAGGACGAGCAGGGCAAGCTGGAGCAGGGGGTAGAACAGACCAAGTCCTTTACCGCAGAGGAAGAAACCACACTGTGGAAGGGAAATAAATAGAGGGGTCCAGGGCAGCAGAGCCCAGGCCCCCAGGGCGCAGTGGCTATAGGCGCAGCAGGCGAGTGGGAGCCCCCGGCCGCTTCAGCCACTGAGGAAGAGACGCTTGTAGGCCTTGTTCATCTGCTCCAAGAAGATGAAGGTGAGGACGGTGTGGGGGCCCAGGCGGGCATAGTACGGCGTGAAGCCCTTCCACAGGCTGAAGAAGCCCTCGTAGCGGACAACTTTGAACAGCACGTCCTAGACACAGACAGGCAGGGCGCTGGGGCTAGGACTCTAGGTCCCCATCCCCCTCACCCAGCTGCCTTCACACCTTTCCCAGGGGATCCGACACCCCCTCCCAGGCCCCCAGAATGGCTTCCTCACCAGCCCGTTCTTGTATTCCGGCTTCCCATCAATCATCCGCATGTTCTGGATTCTGCAGGAGAGGACGCAGGGGCATGAGAGACCGAAAGGGCACCCTCCCACCCACCTCCAGGCCCAGGCTGCACACTCACCGGGTCTTGGCAATGTCCACAGGCATGGAGGCAGCAGTGGTGACAAGACCGCTGATCATGCTGGCACAGAAGTGGCACAAGATGTTGTCAGAGAAGTAGCCTGGGGGAGGTGAGGCGGGGGTGGCAGTCAGCTCAGAGGTGGCTCAGGCCAGGCTGGGAACTAAGGGCCCAGCTCTGGATCTCACCTGAGTCCAGTAAGAACTGCTTGGATTGGGAGTAGGAGGCGAGCTGGGCAGCATTGACGACGACGGCCCGAGCCATGGTAGGGATGCAGCCCTGGAGGGAGGGGAGCGGGGAAGAGTCAGAAACCCCTAAAACCAGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCACCCGCCACAGTGTGAGGACACCCTCTTCCCGGGTGATTCGAATCAGGGCGTTAAACACATTTTTGTAGCCACGGCGCTGGTCAGCTGGAAGCCTGGTGGGAAGGCAGAAAGAGGTCAAGATCAGGATTGCCCACAGGTGCAAAGAAAGGAAGGCCAGAACAGGTAAACACTCTGCTCCAGATCCGGGATAAAAAACTGGTCCTTTCATTCTAGATTCGAGGGAATGGGGCTGGGGTTAGGTTCAGACTTGGAACTCACCGGCCATCGGCAGTCATGCGGATAAGAGCCACTTCGGCTGGTGTTCCCACAAAGGCACCAGTGGCACCTGCGGTCATGCCAATCACAGCCTTCAGCAGAAAGCCAGGGGGAGTACCATCAGCCCCAGTCAGGCGCTCAAACAGCACGGTATAGATGCCAAGGCGGGTAGTGGTGTAGGTGGCCTGACGCAGCAGGCCAGCCGACAGCCTGAGGAGCAGAGGGGTCAGCATATCAGGCCAAGGTCTAGAGCTGCCAACCCACAGTCTACCCTCCATCCTGAGGCCCCAATACCCAGTGTAAATGCCCCTCAGGCCTTCTGCCTTCAGGATACTGGTGAGGGCATGGAAGCTGGTTTTGTACTCTCGAGTCTTGGCCCCTTCCCCGCTCAACTGCATCCGGTTCTTCACCAGGTCCAGGGGCTGGACAAAAACTGTAGCTCCCATCCTGGGGGAAGACAGAGGTGGAGTGAAGGGCCAGGCATTCCAGATCTACCAGTGCCCACTGGAGCCTGGCAGCAAGAGGTTACAAAGGTCAGGGCCTGCCATGCGATTCAAGAATCAGGATGCTGGTGAGCATGTGTATAAGAGTCTATATGTACACCAAGTGCAACGGGTCTGAAAAGTCTAGTTGTCCAGTAGGGGCCATGCAATGAAAGTGCTCCAAGCAGCTTCATGACAGTCAAGCAGTGACCTGGGGCTGCACGCAGTCCGACACAGGGAGGGGAGGAAGGGGCATCCAAGATTTAGGACTCCAGGTAGTCCTGCAGGAGCCATTTAATGGCCTGGAACCCCCTGCCGCCCGGCCGAGCTTAGCAATGCGCTGGGAAACTCAGCTGGCCCGGCGGGGGTTGTGCAACGACCCTGCATGCAGTCCATAAGGGTCCTGCAATGGGGCCCTAGCAGCCCATCGGGGAACTCGCAATACGCTGGAGATCGCGCTGACCCCGTGCCGGCACAGTTCACTGCAACAGACCCAGAGATGAACCGGGCCCGGTTCCTTTTGCCCTTCCCTTCCTCCTCTTTTCCCATCCCTGGGGCCTGAGCTTACCCGGCCAGGCCCCCAAACAGGAACTTGACGGACTTAGGGGAGGTACGGGGCTTCCCGTCTATCCCGCCGGCCCCGGCACTCGCCGTCGCCGCCATCGCCACTCAATGGCCCTCGGCTCCGGGTCCCGTGCGCGCGCGGCCCCGCTCGCGCCCAAGGTGACACCGCGCGCGCAACAGAGCGAGGGCGCGCGCACGCCCCTCCAGCTCTCAGGTCCGACACCCGCTGGAAGCCGGCGCGGGCGCAGGCGCGCAGCGCAAAGGCGGCCGGGAGTAAGGCGGAGCTGAAGGAGGAGCTTGATGGAAGCGTGCGAGAAGGGGCGTAACTGATTTGGAAACCAGAGGAAAGGCGCTGTTTTCACCGAATTAGAATCGCGGGAAAATAGAGAAGAGTTTGTTTGAAGGTCTCGCG
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TCCAAGGCTTGGGGCCCAGAGAATGGGACTATGGAGACCCCCATCCCCCTCCAGATGGTCCTGAAGATCTCCCAAACCTGAAAGTCTGACCGAATCTCTCCCCAGGTGGAGGACCAACTCCTGAGCTTGGCAGTCAGGGAGTGCCAAGCACTGACCCCATCTGACAGTCCAGCTTCATCTCAAGGGAGATACCTCACAGTCTGTGCTCCAACTATCACAAGCCTATAGATCACCTGCTCCCCAACAGTGTTTTACTCTAAGCCTTTGCCCTCAGTCCAGCCAGGTGTGCTATCCTTGCCCCATCCCCAGCCAGTCTAACCACTCAGTCTGCAAGTCACTACTCCCAGGCGAGGCCAGGTGCTCCAAGTTACCCTGCAACACTATTGCTACACTCAGTTTCCCAACTGCTCCTGTATAATCTTGTCTTCTGGACCAGGAACTCCTTAAGGACAAGGTCTAGGCTTCAGGCATCTCACAATAGCCACCAAGGCGCAGGACAGTGTACACAGAGGCAGCAGCAGGGGCGCCAGGATGCTGAGCTCCACCTCTTCTGCTGATGAGGCTCTGCCAAAGGGACAGCTCCCACCTGCTGCCTGCCTGTCCCCTAGCCTGGCAAGCACTCCTCAGTTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGGGATTATGTGAGATGATCTGGGCATCGGTGGCATTCTTGGGCGAGTGGCTGGAGGAAACACACCGGGCCTGGGATTTGAGTTTTTCTGGCCCTGTCAGCTGCTGTGGCATGACAGATTTATACAGCATTTGCAAAAAACCAGCGGCTGCTTTTTCTTTAACAATTTTTCTTAAAAACTCCAGTTCCTATTCTCCAGCTTCTTTGTCCAGTCTCCTCCCCTCTCCTAGCCACCCCCCAGACTCTCCAGATTTGGGGCTGGTGTCATCAATCCAATTTATTAAGTCCTCAATGAGGGGGAGGAAGGGCCACATCTCCCTCTGCAGGCCCTTTGACCATCTTGATGGCTTCTGCTCCTCCCTGTCCCCTCAGCTCTGCCTTGGTTTCCCCACTGACAAAGGGGATCTTCTGCTGTCCTGTGTGCCCTGAAACTAAAACCCAGGGGGAGGCCAGAAATCCTCAGAAGTTTTCCAGCTCCCTGCAAGAATAGCCAAGGACAGAGAAATCACAGGATCAGGACGAGCAGGGCAAGCTGGAGCAGGGGGTAGAACAGACCAAGTCCTTTACCGCAGAGGAAGAAACCACACTGTGGAAGGGAAATAAATAGAGGGGTCCAGGGCAGCAGAGCCCAGGCCCCCAGGGCGCAGTGGCTATAGGCGCAGCAGGCGAGTGGGAGCCCCCGGCCGCTTCAGCCACTGAGGAAGAGACGCTTGTAGGCCTTGTTCATCTGCTCCAAGAAGATGAAGGTGAGGACGGTGTGGGGGCCCAGGCGGGCATAGTACGGCGTGAAGCCCTTCCACAGGCTGAAGAAGCCCTCGTAGCGGACAACTTTGAACAGCACGTCCTAGACACAGACAGGCAGGGCGCTGGGGCTAGGACTCTAGGTCCCCATCCCCCTCACCCAGCTGCCTTCACACCTTTCCCAGGGGATCCGACACCCCCTCCCAGGCCCCCAGAATGGCTTCCTCACCAGCCCGTTCTTGTATTCCGGCTTCCCATCAATCATCCGCATGTTCTGGATTCTGCAGGAGAGGACGCAGGGGCATGAGAGACCGAAAGGGCACCCTCCCACCCACCTCCAGGCCCAGGCTGCACACTCACCGGGTCTTGGCAATGTCCACAGTCATGGAGGCAGCAGTGGTGACAAGACCGCTGATCATGCTGGCACAGAAGTGGCACAAGATGTTGTCAGAGAAGTAGCCTGGGGGAGGTGAGGCGGGGGTGGCAGTCAGCTCAGAGGTGGCTCAGGCCAGGCTGGGAACTAAGGGCCCAGCTCTGGATCTCACCTGAGTCCAGTAAGAACTGCTTGGATTGGGAGTAGGAGGCGAGCTGGGCAGCATTGACGACGACGGCCCGAGCCATGGTAGGGATGCAGCCCTGGAGGGAGGGGAGCGGGGAAGAGTCAGAAACCCCTAAAACCAGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCACCCGCCACAGTGTGAGGACACCCTCTTCCCGGGTGATTCGAATCAGGGCGTTAAACACATTTTTGTAGCCACGGCGCTGGTCAGCTGGAAGCCTGGTGGGAAGGCAGAAAGAGGTCAAGATCAGGATTGCCCACAGGTGCAAAGAAAGGAAGGCCAGAACAGGTAAACACTCTGCTCCAGATCCGGGATAAAAAACTGGTCCTTTCATTCTAGATTCGAGGGAATGGGGCTGGGGTTAGGTTCAGACTTGGAACTCACCGGCCATCGGCAGTCATGCGGATAAGAGCCACTTCGGCTGGTGTTCCCACAAAGGCACCAGTGGCACCTGCGGTCATGCCAATCACAGCCTTCAGCAGAAAGCCAGGGGGAGTACCATCAGCCCCAGTCAGGCGCTCAAACAGCACGGTATAGATGCCAAGGCGGGTAGTGGTGTAGGTGGCCTGACGCAGCAGGCCAGCCGACAGCCTGAGGAGCAGAGGGGTCAGCATATCAGGCCAAGGTCTAGAGCTGCCAACCCACAGTCTACCCTCCATCCTGAGGCCCCAATACCCAGTGTAAATGCCCCTCAGGCCTTCTGCCTTCAGGATACTGGTGAGGGCATGGAAGCTGGTTTTGTACTCTCGAGTCTTGGCCCCTTCCCCGCTCAACTGCATCCGGTTCTTCACCAGGTCCAGGGGCTGGACAAAAACTGTAGCTCCCATCCTGGGGGAAGACAGAGGTGGAGTGAAGGGCCAGGCATTCCAGATCTACCAGTGCCCACTGGAGCCTGGCAGCAAGAGGTTACAAAGGTCAGGGCCTGCCATGCGATTCAAGAATCAGGATGCTGGTGAGCATGTGTATAAGAGTCTATATGTACACCAAGTGCAACGGGTCTGAAAAGTCTAGTTGTCCAGTAGGGGCCATGCAATGAAAGTGCTCCAAGCAGCTTCATGACAGTCAAGCAGTGACCTGGGGCTGCACGCAGTCCGACACAGGGAGGGGAGGAAGGGGCATCCAAGATTTAGGACTCCAGGTAGTCCTGCAGGAGCCATTTAATGGCCTGGAACCCCCTGCCGCCCGGCCGAGCTTAGCAATGCGCTGGGAAACTCAGCTGGCCCGGCGGGGGTTGTGCAACGACCCTGCATGCAGTCCATAAGGGTCCTGCAATGGGGCCCTAGCAGCCCATCGGGGAACTCGCAATACGCTGGAGATCGCGCTGACCCCGTGCCGGCACAGTTCACTGCAACAGACCCAGAGATGAACCGGGCCCGGTTCCTTTTGCCCTTCCCTTCCTCCTCTTTTCCCATCCCTGGGGCCTGAGCTTACCCGGCCAGGCCCCCAAACAGGAACTTGACGGACTTAGGGGAGGTACGGGGCTTCCCGTCTATCCCGCCGGCCCCGGCACTCGCCGTCGCCGCCATCGCCACTCAATGGCCCTCGGCTCCGGGTCCCGTGCGCGCGCGGCCCCGCTCGCGCCCAAGGTGACACCGCGCGCGCAACAGAGCGAGGGCGCGCGCACGCCCCTCCAGCTCTCAGGTCCGACACCCGCTGGAAGCCGGCGCGGGCGCAGGCGCGCAGCGCAAAGGCGGCCGGGAGTAAGGCGGAGCTGAAGGAGGAGCTTGATGGAAGCGTGCGAGAAGGGGCGTAACTGATTTGGAAACCAGAGGAAAGGCGCTGTTTTCACCGAATTAGAATCGCGGGAAAATAGAGAAGAGTTTGTTTGAAGGTCTCGCG
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Task1_train_23304
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This variant impacts the gene SLC25A11 (solute carrier family 25 member 11) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Paragangliomas 6
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CTGGCAAGCACTCCTCAGTTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGGGATTATGTGAGATGATCTGGGCATCGGTGGCATTCTTGGGCGAGTGGCTGGAGGAAACACACCGGGCCTGGGATTTGAGTTTTTCTGGCCCTGTCAGCTGCTGTGGCATGACAGATTTATACAGCATTTGCAAAAAACCAGCGGCTGCTTTTTCTTTAACAATTTTTCTTAAAAACTCCAGTTCCTATTCTCCAGCTTCTTTGTCCAGTCTCCTCCCCTCTCCTAGCCACCCCCCAGACTCTCCAGATTTGGGGCTGGTGTCATCAATCCAATTTATTAAGTCCTCAATGAGGGGGAGGAAGGGCCACATCTCCCTCTGCAGGCCCTTTGACCATCTTGATGGCTTCTGCTCCTCCCTGTCCCCTCAGCTCTGCCTTGGTTTCCCCACTGACAAAGGGGATCTTCTGCTGTCCTGTGTGCCCTGAAACTAAAACCCAGGGGGAGGCCAGAAATCCTCAGAAGTTTTCCAGCTCCCTGCAAGAATAGCCAAGGACAGAGAAATCACAGGATCAGGACGAGCAGGGCAAGCTGGAGCAGGGGGTAGAACAGACCAAGTCCTTTACCGCAGAGGAAGAAACCACACTGTGGAAGGGAAATAAATAGAGGGGTCCAGGGCAGCAGAGCCCAGGCCCCCAGGGCGCAGTGGCTATAGGCGCAGCAGGCGAGTGGGAGCCCCCGGCCGCTTCAGCCACTGAGGAAGAGACGCTTGTAGGCCTTGTTCATCTGCTCCAAGAAGATGAAGGTGAGGACGGTGTGGGGGCCCAGGCGGGCATAGTACGGCGTGAAGCCCTTCCACAGGCTGAAGAAGCCCTCGTAGCGGACAACTTTGAACAGCACGTCCTAGACACAGACAGGCAGGGCGCTGGGGCTAGGACTCTAGGTCCCCATCCCCCTCACCCAGCTGCCTTCACACCTTTCCCAGGGGATCCGACACCCCCTCCCAGGCCCCCAGAATGGCTTCCTCACCAGCCCGTTCTTGTATTCCGGCTTCCCATCAATCATCCGCATGTTCTGGATTCTGCAGGAGAGGACGCAGGGGCATGAGAGACCGAAAGGGCACCCTCCCACCCACCTCCAGGCCCAGGCTGCACACTCACCGGGTCTTGGCAATGTCCACAGGCATGGAGGCAGCAGTGGTGACAAGACCGCTGATCATGCTGGCACAGAAGTGGCACAAGATGTTGTCAGAGAAGTAGCCTGGGGGAGGTGAGGCGGGGGTGGCAGTCAGCTCAGAGGTGGCTCAGGCCAGGCTGGGAACTAAGGGCCCAGCTCTGGATCTCACCTGAGTCCAGTAAGAACTGCTTGGATTGGGAGTAGGAGGCGAGCTGGGCAGCATTGACGACGACGGCCCGAGCCATGGTAGGGATGCAGCCCTGGAGGGAGGGGAGCGGGGAAGAGTCAGAAACCCCTAAAACCAGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCACCCGCCACAGTGTGAGGACACCCTCTTCCCGGGTGATTCGAATCAGGGCGTTAAACACATTTTTGTAGCCACGGCGCTGGTCAGCTGGAAGCCTGGTGGGAAGGCAGAAAGAGGTCAAGATCAGGATTGCCCACAGGTGCAAAGAAAGGAAGGCCAGAACAGGTAAACACTCTGCTCCAGATCCGGGATAAAAAACTGGTCCTTTCATTCTAGATTCGAGGGAATGGGGCTGGGGTTAGGTTCAGACTTGGAACTCACCGGCCATCGGCAGTCATGCGGATAAGAGCCACTTCGGCTGGTGTTCCCACAAAGGCACCAGTGGCACCTGCGGTCATGCCAATCACAGCCTTCAGCAGAAAGCCAGGGGGAGTACCATCAGCCCCAGTCAGGCGCTCAAACAGCACGGTATAGATGCCAAGGCGGGTAGTGGTGTAGGTGGCCTGACGCAGCAGGCCAGCCGACAGCCTGAGGAGCAGAGGGGTCAGCATATCAGGCCAAGGTCTAGAGCTGCCAACCCACAGTCTACCCTCCATCCTGAGGCCCCAATACCCAGTGTAAATGCCCCTCAGGCCTTCTGCCTTCAGGATACTGGTGAGGGCATGGAAGCTGGTTTTGTACTCTCGAGTCTTGGCCCCTTCCCCGCTCAACTGCATCCGGTTCTTCACCAGGTCCAGGGGCTGGACAAAAACTGTAGCTCCCATCCTGGGGGAAGACAGAGGTGGAGTGAAGGGCCAGGCATTCCAGATCTACCAGTGCCCACTGGAGCCTGGCAGCAAGAGGTTACAAAGGTCAGGGCCTGCCATGCGATTCAAGAATCAGGATGCTGGTGAGCATGTGTATAAGAGTCTATATGTACACCAAGTGCAACGGGTCTGAAAAGTCTAGTTGTCCAGTAGGGGCCATGCAATGAAAGTGCTCCAAGCAGCTTCATGACAGTCAAGCAGTGACCTGGGGCTGCACGCAGTCCGACACAGGGAGGGGAGGAAGGGGCATCCAAGATTTAGGACTCCAGGTAGTCCTGCAGGAGCCATTTAATGGCCTGGAACCCCCTGCCGCCCGGCCGAGCTTAGCAATGCGCTGGGAAACTCAGCTGGCCCGGCGGGGGTTGTGCAACGACCCTGCATGCAGTCCATAAGGGTCCTGCAATGGGGCCCTAGCAGCCCATCGGGGAACTCGCAATACGCTGGAGATCGCGCTGACCCCGTGCCGGCACAGTTCACTGCAACAGACCCAGAGATGAACCGGGCCCGGTTCCTTTTGCCCTTCCCTTCCTCCTCTTTTCCCATCCCTGGGGCCTGAGCTTACCCGGCCAGGCCCCCAAACAGGAACTTGACGGACTTAGGGGAGGTACGGGGCTTCCCGTCTATCCCGCCGGCCCCGGCACTCGCCGTCGCCGCCATCGCCACTCAATGGCCCTCGGCTCCGGGTCCCGTGCGCGCGCGGCCCCGCTCGCGCCCAAGGTGACACCGCGCGCGCAACAGAGCGAGGGCGCGCGCACGCCCCTCCAGCTCTCAGGTCCGACACCCGCTGGAAGCCGGCGCGGGCGCAGGCGCGCAGCGCAAAGGCGGCCGGGAGTAAGGCGGAGCTGAAGGAGGAGCTTGATGGAAGCGTGCGAGAAGGGGCGTAACTGATTTGGAAACCAGAGGAAAGGCGCTGTTTTCACCGAATTAGAATCGCGGGAAAATAGAGAAGAGTTTGTTTGAAGGTCTCGCGAGATCGAGTGAGTACGGCTCGCCAAGTTGGAGCGCTCTCGCGATAGACACAGCAACTATTCAGCTGCGAGGGGACGGGAGAGGTGGTGAGCACTCTCGCGAGATTTGAAGGAGCGGCGGAGGCCAGAGGGAGGAGAGGTTTGTAAACTAGGAGGCTCCGGGTTTCCGGGCACTTTTATTAGGTCGTCTTCTGGGCCACCAGTGCCCCTTCCATCTCCACAGGCAGTCCCTCCATCGCTAACCTTTTTTTAACCGGCCTTTTAGGACCGGAAGTCCTTCATCTCAAGCATCCAATGCTGAAAGCGGCCTGATTTTCTCTACCGGAAGCCCTTTTCCAGAGGCTGGGAACACGGCCCACCTAGCAGGAAGTCCCACCTCCTTGAGCTCCGCCACCCTTCCCGAAGTTTTTCTGTCACCTGTGTTAGGCTCCGTCCCCTTTCCGCGTTTTATCCCCGTACCAGAAAAGGATACATTTAGTGCCTCCCACCCAGCTCCACTAAACGGGTTGGATATCTCATTCTTTGAGTTGGTGTTCCTTCCCCGGCGCCCCCATGTAGCTGGGAAGTGGGACCTGGGGGTGGTTGGACCCCTGGGATCCTAAAGGAGGGGC
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CTGGCAAGCACTCCTCAGTTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGGGATTATGTGAGATGATCTGGGCATCGGTGGCATTCTTGGGCGAGTGGCTGGAGGAAACACACCGGGCCTGGGATTTGAGTTTTTCTGGCCCTGTCAGCTGCTGTGGCATGACAGATTTATACAGCATTTGCAAAAAACCAGCGGCTGCTTTTTCTTTAACAATTTTTCTTAAAAACTCCAGTTCCTATTCTCCAGCTTCTTTGTCCAGTCTCCTCCCCTCTCCTAGCCACCCCCCAGACTCTCCAGATTTGGGGCTGGTGTCATCAATCCAATTTATTAAGTCCTCAATGAGGGGGAGGAAGGGCCACATCTCCCTCTGCAGGCCCTTTGACCATCTTGATGGCTTCTGCTCCTCCCTGTCCCCTCAGCTCTGCCTTGGTTTCCCCACTGACAAAGGGGATCTTCTGCTGTCCTGTGTGCCCTGAAACTAAAACCCAGGGGGAGGCCAGAAATCCTCAGAAGTTTTCCAGCTCCCTGCAAGAATAGCCAAGGACAGAGAAATCACAGGATCAGGACGAGCAGGGCAAGCTGGAGCAGGGGGTAGAACAGACCAAGTCCTTTACCGCAGAGGAAGAAACCACACTGTGGAAGGGAAATAAATAGAGGGGTCCAGGGCAGCAGAGCCCAGGCCCCCAGGGCGCAGTGGCTATAGGCGCAGCAGGCGAGTGGGAGCCCCCGGCCGCTTCAGCCACTGAGGAAGAGACGCTTGTAGGCCTTGTTCATCTGCTCCAAGAAGATGAAGGTGAGGACGGTGTGGGGGCCCAGGCGGGCATAGTACGGCGTGAAGCCCTTCCACAGGCTGAAGAAGCCCTCGTAGCGGACAACTTTGAACAGCACGTCCTAGACACAGACAGGCAGGGCGCTGGGGCTAGGACTCTAGGTCCCCATCCCCCTCACCCAGCTGCCTTCACACCTTTCCCAGGGGATCCGACACCCCCTCCCAGGCCCCCAGAATGGCTTCCTCACCAGCCCGTTCTTGTATTCCGGCTTCCCATCAATCATCCGCATGTTCTGGATTCTGCAGGAGAGGACGCAGGGGCATGAGAGACCGAAAGGGCACCCTCCCACCCACCTCCAGGCCCAGGCTGCACACTCACCGGGTCTTGGCAATGTCCACAGGCATGGAGGCAGCAGTGGTGACAAGACCGCTGATCATGCTGGCACAGAAGTGGCACAAGATGTTGTCAGAGAAGTAGCCTGGGGGAGGTGAGGCGGGGGTGGCAGTCAGCTCAGAGGTGGCTCAGGCCAGGCTGGGAACTAAGGGCCCAGCTCTGGATCTCACCTGAGTCCAGTAAGAACTGCTTGGATTGGGAGTAGGAGGCGAGCTGGGCAGCATTGACGACGACGGCCCGAGCCATGGTAGGGATGCAGCCCTGGAGGGAGGGGAGCGGGGAAGAGTCAGAAACCCCTAAAACCAGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCACCCGCCACAGTGTGAGGACACCCTCTTCCCGGGTGATTCGAATCAGGGCGTTAAACACATTTTTGTAGCCACGGCGCTGGTCAGCTGGAAGCCTGGTGGGAAGGCAGAAAGAGGTCAAGATCAGGATTGCCCACAGGTGCAAAGAAAGGAAGGCCAGAACAGGTAAACACTCTGCTCCAGATCCGGGATAAAAAACTGGTCCTTTCATTCTAGATTCGAGGGAATGGGGCTGGGGTTAGGTTCAGACTTGGAACTCACCGGCCATCGGCAGTCACGCGGATAAGAGCCACTTCGGCTGGTGTTCCCACAAAGGCACCAGTGGCACCTGCGGTCATGCCAATCACAGCCTTCAGCAGAAAGCCAGGGGGAGTACCATCAGCCCCAGTCAGGCGCTCAAACAGCACGGTATAGATGCCAAGGCGGGTAGTGGTGTAGGTGGCCTGACGCAGCAGGCCAGCCGACAGCCTGAGGAGCAGAGGGGTCAGCATATCAGGCCAAGGTCTAGAGCTGCCAACCCACAGTCTACCCTCCATCCTGAGGCCCCAATACCCAGTGTAAATGCCCCTCAGGCCTTCTGCCTTCAGGATACTGGTGAGGGCATGGAAGCTGGTTTTGTACTCTCGAGTCTTGGCCCCTTCCCCGCTCAACTGCATCCGGTTCTTCACCAGGTCCAGGGGCTGGACAAAAACTGTAGCTCCCATCCTGGGGGAAGACAGAGGTGGAGTGAAGGGCCAGGCATTCCAGATCTACCAGTGCCCACTGGAGCCTGGCAGCAAGAGGTTACAAAGGTCAGGGCCTGCCATGCGATTCAAGAATCAGGATGCTGGTGAGCATGTGTATAAGAGTCTATATGTACACCAAGTGCAACGGGTCTGAAAAGTCTAGTTGTCCAGTAGGGGCCATGCAATGAAAGTGCTCCAAGCAGCTTCATGACAGTCAAGCAGTGACCTGGGGCTGCACGCAGTCCGACACAGGGAGGGGAGGAAGGGGCATCCAAGATTTAGGACTCCAGGTAGTCCTGCAGGAGCCATTTAATGGCCTGGAACCCCCTGCCGCCCGGCCGAGCTTAGCAATGCGCTGGGAAACTCAGCTGGCCCGGCGGGGGTTGTGCAACGACCCTGCATGCAGTCCATAAGGGTCCTGCAATGGGGCCCTAGCAGCCCATCGGGGAACTCGCAATACGCTGGAGATCGCGCTGACCCCGTGCCGGCACAGTTCACTGCAACAGACCCAGAGATGAACCGGGCCCGGTTCCTTTTGCCCTTCCCTTCCTCCTCTTTTCCCATCCCTGGGGCCTGAGCTTACCCGGCCAGGCCCCCAAACAGGAACTTGACGGACTTAGGGGAGGTACGGGGCTTCCCGTCTATCCCGCCGGCCCCGGCACTCGCCGTCGCCGCCATCGCCACTCAATGGCCCTCGGCTCCGGGTCCCGTGCGCGCGCGGCCCCGCTCGCGCCCAAGGTGACACCGCGCGCGCAACAGAGCGAGGGCGCGCGCACGCCCCTCCAGCTCTCAGGTCCGACACCCGCTGGAAGCCGGCGCGGGCGCAGGCGCGCAGCGCAAAGGCGGCCGGGAGTAAGGCGGAGCTGAAGGAGGAGCTTGATGGAAGCGTGCGAGAAGGGGCGTAACTGATTTGGAAACCAGAGGAAAGGCGCTGTTTTCACCGAATTAGAATCGCGGGAAAATAGAGAAGAGTTTGTTTGAAGGTCTCGCGAGATCGAGTGAGTACGGCTCGCCAAGTTGGAGCGCTCTCGCGATAGACACAGCAACTATTCAGCTGCGAGGGGACGGGAGAGGTGGTGAGCACTCTCGCGAGATTTGAAGGAGCGGCGGAGGCCAGAGGGAGGAGAGGTTTGTAAACTAGGAGGCTCCGGGTTTCCGGGCACTTTTATTAGGTCGTCTTCTGGGCCACCAGTGCCCCTTCCATCTCCACAGGCAGTCCCTCCATCGCTAACCTTTTTTTAACCGGCCTTTTAGGACCGGAAGTCCTTCATCTCAAGCATCCAATGCTGAAAGCGGCCTGATTTTCTCTACCGGAAGCCCTTTTCCAGAGGCTGGGAACACGGCCCACCTAGCAGGAAGTCCCACCTCCTTGAGCTCCGCCACCCTTCCCGAAGTTTTTCTGTCACCTGTGTTAGGCTCCGTCCCCTTTCCGCGTTTTATCCCCGTACCAGAAAAGGATACATTTAGTGCCTCCCACCCAGCTCCACTAAACGGGTTGGATATCTCATTCTTTGAGTTGGTGTTCCTTCCCCGGCGCCCCCATGTAGCTGGGAAGTGGGACCTGGGGGTGGTTGGACCCCTGGGATCCTAAAGGAGGGGC
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Task1_train_23305
|
This sequence variant lies in SLC25A11 (solute carrier family 25 member 11) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Paragangliomas 6
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TTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGGGATTATGTGAGATGATCTGGGCATCGGTGGCATTCTTGGGCGAGTGGCTGGAGGAAACACACCGGGCCTGGGATTTGAGTTTTTCTGGCCCTGTCAGCTGCTGTGGCATGACAGATTTATACAGCATTTGCAAAAAACCAGCGGCTGCTTTTTCTTTAACAATTTTTCTTAAAAACTCCAGTTCCTATTCTCCAGCTTCTTTGTCCAGTCTCCTCCCCTCTCCTAGCCACCCCCCAGACTCTCCAGATTTGGGGCTGGTGTCATCAATCCAATTTATTAAGTCCTCAATGAGGGGGAGGAAGGGCCACATCTCCCTCTGCAGGCCCTTTGACCATCTTGATGGCTTCTGCTCCTCCCTGTCCCCTCAGCTCTGCCTTGGTTTCCCCACTGACAAAGGGGATCTTCTGCTGTCCTGTGTGCCCTGAAACTAAAACCCAGGGGGAGGCCAGAAATCCTCAGAAGTTTTCCAGCTCCCTGCAAGAATAGCCAAGGACAGAGAAATCACAGGATCAGGACGAGCAGGGCAAGCTGGAGCAGGGGGTAGAACAGACCAAGTCCTTTACCGCAGAGGAAGAAACCACACTGTGGAAGGGAAATAAATAGAGGGGTCCAGGGCAGCAGAGCCCAGGCCCCCAGGGCGCAGTGGCTATAGGCGCAGCAGGCGAGTGGGAGCCCCCGGCCGCTTCAGCCACTGAGGAAGAGACGCTTGTAGGCCTTGTTCATCTGCTCCAAGAAGATGAAGGTGAGGACGGTGTGGGGGCCCAGGCGGGCATAGTACGGCGTGAAGCCCTTCCACAGGCTGAAGAAGCCCTCGTAGCGGACAACTTTGAACAGCACGTCCTAGACACAGACAGGCAGGGCGCTGGGGCTAGGACTCTAGGTCCCCATCCCCCTCACCCAGCTGCCTTCACACCTTTCCCAGGGGATCCGACACCCCCTCCCAGGCCCCCAGAATGGCTTCCTCACCAGCCCGTTCTTGTATTCCGGCTTCCCATCAATCATCCGCATGTTCTGGATTCTGCAGGAGAGGACGCAGGGGCATGAGAGACCGAAAGGGCACCCTCCCACCCACCTCCAGGCCCAGGCTGCACACTCACCGGGTCTTGGCAATGTCCACAGGCATGGAGGCAGCAGTGGTGACAAGACCGCTGATCATGCTGGCACAGAAGTGGCACAAGATGTTGTCAGAGAAGTAGCCTGGGGGAGGTGAGGCGGGGGTGGCAGTCAGCTCAGAGGTGGCTCAGGCCAGGCTGGGAACTAAGGGCCCAGCTCTGGATCTCACCTGAGTCCAGTAAGAACTGCTTGGATTGGGAGTAGGAGGCGAGCTGGGCAGCATTGACGACGACGGCCCGAGCCATGGTAGGGATGCAGCCCTGGAGGGAGGGGAGCGGGGAAGAGTCAGAAACCCCTAAAACCAGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCACCCGCCACAGTGTGAGGACACCCTCTTCCCGGGTGATTCGAATCAGGGCGTTAAACACATTTTTGTAGCCACGGCGCTGGTCAGCTGGAAGCCTGGTGGGAAGGCAGAAAGAGGTCAAGATCAGGATTGCCCACAGGTGCAAAGAAAGGAAGGCCAGAACAGGTAAACACTCTGCTCCAGATCCGGGATAAAAAACTGGTCCTTTCATTCTAGATTCGAGGGAATGGGGCTGGGGTTAGGTTCAGACTTGGAACTCACCGGCCATCGGCAGTCATGCGGATAAGAGCCACTTCGGCTGGTGTTCCCACAAAGGCACCAGTGGCACCTGCGGTCATGCCAATCACAGCCTTCAGCAGAAAGCCAGGGGGAGTACCATCAGCCCCAGTCAGGCGCTCAAACAGCACGGTATAGATGCCAAGGCGGGTAGTGGTGTAGGTGGCCTGACGCAGCAGGCCAGCCGACAGCCTGAGGAGCAGAGGGGTCAGCATATCAGGCCAAGGTCTAGAGCTGCCAACCCACAGTCTACCCTCCATCCTGAGGCCCCAATACCCAGTGTAAATGCCCCTCAGGCCTTCTGCCTTCAGGATACTGGTGAGGGCATGGAAGCTGGTTTTGTACTCTCGAGTCTTGGCCCCTTCCCCGCTCAACTGCATCCGGTTCTTCACCAGGTCCAGGGGCTGGACAAAAACTGTAGCTCCCATCCTGGGGGAAGACAGAGGTGGAGTGAAGGGCCAGGCATTCCAGATCTACCAGTGCCCACTGGAGCCTGGCAGCAAGAGGTTACAAAGGTCAGGGCCTGCCATGCGATTCAAGAATCAGGATGCTGGTGAGCATGTGTATAAGAGTCTATATGTACACCAAGTGCAACGGGTCTGAAAAGTCTAGTTGTCCAGTAGGGGCCATGCAATGAAAGTGCTCCAAGCAGCTTCATGACAGTCAAGCAGTGACCTGGGGCTGCACGCAGTCCGACACAGGGAGGGGAGGAAGGGGCATCCAAGATTTAGGACTCCAGGTAGTCCTGCAGGAGCCATTTAATGGCCTGGAACCCCCTGCCGCCCGGCCGAGCTTAGCAATGCGCTGGGAAACTCAGCTGGCCCGGCGGGGGTTGTGCAACGACCCTGCATGCAGTCCATAAGGGTCCTGCAATGGGGCCCTAGCAGCCCATCGGGGAACTCGCAATACGCTGGAGATCGCGCTGACCCCGTGCCGGCACAGTTCACTGCAACAGACCCAGAGATGAACCGGGCCCGGTTCCTTTTGCCCTTCCCTTCCTCCTCTTTTCCCATCCCTGGGGCCTGAGCTTACCCGGCCAGGCCCCCAAACAGGAACTTGACGGACTTAGGGGAGGTACGGGGCTTCCCGTCTATCCCGCCGGCCCCGGCACTCGCCGTCGCCGCCATCGCCACTCAATGGCCCTCGGCTCCGGGTCCCGTGCGCGCGCGGCCCCGCTCGCGCCCAAGGTGACACCGCGCGCGCAACAGAGCGAGGGCGCGCGCACGCCCCTCCAGCTCTCAGGTCCGACACCCGCTGGAAGCCGGCGCGGGCGCAGGCGCGCAGCGCAAAGGCGGCCGGGAGTAAGGCGGAGCTGAAGGAGGAGCTTGATGGAAGCGTGCGAGAAGGGGCGTAACTGATTTGGAAACCAGAGGAAAGGCGCTGTTTTCACCGAATTAGAATCGCGGGAAAATAGAGAAGAGTTTGTTTGAAGGTCTCGCGAGATCGAGTGAGTACGGCTCGCCAAGTTGGAGCGCTCTCGCGATAGACACAGCAACTATTCAGCTGCGAGGGGACGGGAGAGGTGGTGAGCACTCTCGCGAGATTTGAAGGAGCGGCGGAGGCCAGAGGGAGGAGAGGTTTGTAAACTAGGAGGCTCCGGGTTTCCGGGCACTTTTATTAGGTCGTCTTCTGGGCCACCAGTGCCCCTTCCATCTCCACAGGCAGTCCCTCCATCGCTAACCTTTTTTTAACCGGCCTTTTAGGACCGGAAGTCCTTCATCTCAAGCATCCAATGCTGAAAGCGGCCTGATTTTCTCTACCGGAAGCCCTTTTCCAGAGGCTGGGAACACGGCCCACCTAGCAGGAAGTCCCACCTCCTTGAGCTCCGCCACCCTTCCCGAAGTTTTTCTGTCACCTGTGTTAGGCTCCGTCCCCTTTCCGCGTTTTATCCCCGTACCAGAAAAGGATACATTTAGTGCCTCCCACCCAGCTCCACTAAACGGGTTGGATATCTCATTCTTTGAGTTGGTGTTCCTTCCCCGGCGCCCCCATGTAGCTGGGAAGTGGGACCTGGGGGTGGTTGGACCCCTGGGATCCTAAAGGAGGGGCAGGGAGGGCGCAGAACTC
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TTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGGGATTATGTGAGATGATCTGGGCATCGGTGGCATTCTTGGGCGAGTGGCTGGAGGAAACACACCGGGCCTGGGATTTGAGTTTTTCTGGCCCTGTCAGCTGCTGTGGCATGACAGATTTATACAGCATTTGCAAAAAACCAGCGGCTGCTTTTTCTTTAACAATTTTTCTTAAAAACTCCAGTTCCTATTCTCCAGCTTCTTTGTCCAGTCTCCTCCCCTCTCCTAGCCACCCCCCAGACTCTCCAGATTTGGGGCTGGTGTCATCAATCCAATTTATTAAGTCCTCAATGAGGGGGAGGAAGGGCCACATCTCCCTCTGCAGGCCCTTTGACCATCTTGATGGCTTCTGCTCCTCCCTGTCCCCTCAGCTCTGCCTTGGTTTCCCCACTGACAAAGGGGATCTTCTGCTGTCCTGTGTGCCCTGAAACTAAAACCCAGGGGGAGGCCAGAAATCCTCAGAAGTTTTCCAGCTCCCTGCAAGAATAGCCAAGGACAGAGAAATCACAGGATCAGGACGAGCAGGGCAAGCTGGAGCAGGGGGTAGAACAGACCAAGTCCTTTACCGCAGAGGAAGAAACCACACTGTGGAAGGGAAATAAATAGAGGGGTCCAGGGCAGCAGAGCCCAGGCCCCCAGGGCGCAGTGGCTATAGGCGCAGCAGGCGAGTGGGAGCCCCCGGCCGCTTCAGCCACTGAGGAAGAGACGCTTGTAGGCCTTGTTCATCTGCTCCAAGAAGATGAAGGTGAGGACGGTGTGGGGGCCCAGGCGGGCATAGTACGGCGTGAAGCCCTTCCACAGGCTGAAGAAGCCCTCGTAGCGGACAACTTTGAACAGCACGTCCTAGACACAGACAGGCAGGGCGCTGGGGCTAGGACTCTAGGTCCCCATCCCCCTCACCCAGCTGCCTTCACACCTTTCCCAGGGGATCCGACACCCCCTCCCAGGCCCCCAGAATGGCTTCCTCACCAGCCCGTTCTTGTATTCCGGCTTCCCATCAATCATCCGCATGTTCTGGATTCTGCAGGAGAGGACGCAGGGGCATGAGAGACCGAAAGGGCACCCTCCCACCCACCTCCAGGCCCAGGCTGCACACTCACCGGGTCTTGGCAATGTCCACAGGCATGGAGGCAGCAGTGGTGACAAGACCGCTGATCATGCTGGCACAGAAGTGGCACAAGATGTTGTCAGAGAAGTAGCCTGGGGGAGGTGAGGCGGGGGTGGCAGTCAGCTCAGAGGTGGCTCAGGCCAGGCTGGGAACTAAGGGCCCAGCTCTGGATCTCACCTGAGTCCAGTAAGAACTGCTTGGATTGGGAGTAGGAGGCGAGCTGGGCAGCATTGACGACGACGGCCCGAGCCATGGTAGGGATGCAGCCCTGGAGGGAGGGGAGCGGGGAAGAGTCAGAAACCCCTAAAACCAGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCACCCGCCACAGTGTGAGGACACCCTCTTCCCGGGTGATTCGAATCAGGGCGTTAAACACATTTTTGTAGCCACGGCGCTGGTCAGCTGGAAGCCTGGTGGGAAGGCAGAAAGAGGTCAAGATCAGGATTGCCCACAGGTGCAAAGAAAGGAAGGCCAGAACAGGTAAACACTCTGCTCCAGATCCGGGATAAAAAACTGGTCCTTTCATTCTAGATTCGAGGGAATGGGGCTGGGGTTAGGTTCAGACTTGGAACTCACCGGCCATCGGCAGTCATGCGGATAAGAGCCACTTTGGCTGGTGTTCCCACAAAGGCACCAGTGGCACCTGCGGTCATGCCAATCACAGCCTTCAGCAGAAAGCCAGGGGGAGTACCATCAGCCCCAGTCAGGCGCTCAAACAGCACGGTATAGATGCCAAGGCGGGTAGTGGTGTAGGTGGCCTGACGCAGCAGGCCAGCCGACAGCCTGAGGAGCAGAGGGGTCAGCATATCAGGCCAAGGTCTAGAGCTGCCAACCCACAGTCTACCCTCCATCCTGAGGCCCCAATACCCAGTGTAAATGCCCCTCAGGCCTTCTGCCTTCAGGATACTGGTGAGGGCATGGAAGCTGGTTTTGTACTCTCGAGTCTTGGCCCCTTCCCCGCTCAACTGCATCCGGTTCTTCACCAGGTCCAGGGGCTGGACAAAAACTGTAGCTCCCATCCTGGGGGAAGACAGAGGTGGAGTGAAGGGCCAGGCATTCCAGATCTACCAGTGCCCACTGGAGCCTGGCAGCAAGAGGTTACAAAGGTCAGGGCCTGCCATGCGATTCAAGAATCAGGATGCTGGTGAGCATGTGTATAAGAGTCTATATGTACACCAAGTGCAACGGGTCTGAAAAGTCTAGTTGTCCAGTAGGGGCCATGCAATGAAAGTGCTCCAAGCAGCTTCATGACAGTCAAGCAGTGACCTGGGGCTGCACGCAGTCCGACACAGGGAGGGGAGGAAGGGGCATCCAAGATTTAGGACTCCAGGTAGTCCTGCAGGAGCCATTTAATGGCCTGGAACCCCCTGCCGCCCGGCCGAGCTTAGCAATGCGCTGGGAAACTCAGCTGGCCCGGCGGGGGTTGTGCAACGACCCTGCATGCAGTCCATAAGGGTCCTGCAATGGGGCCCTAGCAGCCCATCGGGGAACTCGCAATACGCTGGAGATCGCGCTGACCCCGTGCCGGCACAGTTCACTGCAACAGACCCAGAGATGAACCGGGCCCGGTTCCTTTTGCCCTTCCCTTCCTCCTCTTTTCCCATCCCTGGGGCCTGAGCTTACCCGGCCAGGCCCCCAAACAGGAACTTGACGGACTTAGGGGAGGTACGGGGCTTCCCGTCTATCCCGCCGGCCCCGGCACTCGCCGTCGCCGCCATCGCCACTCAATGGCCCTCGGCTCCGGGTCCCGTGCGCGCGCGGCCCCGCTCGCGCCCAAGGTGACACCGCGCGCGCAACAGAGCGAGGGCGCGCGCACGCCCCTCCAGCTCTCAGGTCCGACACCCGCTGGAAGCCGGCGCGGGCGCAGGCGCGCAGCGCAAAGGCGGCCGGGAGTAAGGCGGAGCTGAAGGAGGAGCTTGATGGAAGCGTGCGAGAAGGGGCGTAACTGATTTGGAAACCAGAGGAAAGGCGCTGTTTTCACCGAATTAGAATCGCGGGAAAATAGAGAAGAGTTTGTTTGAAGGTCTCGCGAGATCGAGTGAGTACGGCTCGCCAAGTTGGAGCGCTCTCGCGATAGACACAGCAACTATTCAGCTGCGAGGGGACGGGAGAGGTGGTGAGCACTCTCGCGAGATTTGAAGGAGCGGCGGAGGCCAGAGGGAGGAGAGGTTTGTAAACTAGGAGGCTCCGGGTTTCCGGGCACTTTTATTAGGTCGTCTTCTGGGCCACCAGTGCCCCTTCCATCTCCACAGGCAGTCCCTCCATCGCTAACCTTTTTTTAACCGGCCTTTTAGGACCGGAAGTCCTTCATCTCAAGCATCCAATGCTGAAAGCGGCCTGATTTTCTCTACCGGAAGCCCTTTTCCAGAGGCTGGGAACACGGCCCACCTAGCAGGAAGTCCCACCTCCTTGAGCTCCGCCACCCTTCCCGAAGTTTTTCTGTCACCTGTGTTAGGCTCCGTCCCCTTTCCGCGTTTTATCCCCGTACCAGAAAAGGATACATTTAGTGCCTCCCACCCAGCTCCACTAAACGGGTTGGATATCTCATTCTTTGAGTTGGTGTTCCTTCCCCGGCGCCCCCATGTAGCTGGGAAGTGGGACCTGGGGGTGGTTGGACCCCTGGGATCCTAAAGGAGGGGCAGGGAGGGCGCAGAACTC
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Task1_train_23306
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Gene PFN1 (profilin 1), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not provided
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GCGGAGGTTGTCGGGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCGACAGAGGGAGTCCCTTTCTCAAAAAAATAATAATAAAAATAAAGATGGCAGTAGGAAGGTTTCAGCTTGAGATGCTGTCTTTTCTTCTGTTTTTATGCATAAATACAACGAAGACGGGAGAGGAGATGGAAAGCAAAGATGATTAAGTGAAATAATTGTGGGAAACAATAGAGGGATAGACTTTGCTTATAGGGGATGTGGACAGAGCAGAAAAATGGGAGGAATGGGGAGGATTCAGTTAGAGAAGGAAGAAACCGGTACCAAGGGGCTGGGGCTTTAGGCCCTGGGGCCTCCAGTGCCCGTATAAGGCTGTGGCAGAAGCCCTGCCCATTTCCGTTCCTTCCACTCCCTATCTCCACCCTCACACCTCCCCAAAAACCCACTTCCCTTCTTACCTCTGCTTCTCTTTGCTTGTCCCTTCTAGCCCTAAATTCTTCCATGTTCTGCCCTGACCTTATCCTGCCTACCTGTCTTATCTCTTCCACTGGCTTTGTAGGTGAGGGGAAATTTTTGCAAGGCTTTAAAAGCCTTAGCCCTGGGTCATTGTGGCTCAGTGAAGGACTAGATTATTTTCTTTCTGTCCCAGGAGACCAGTATGATGTCTGTGCCATTTGCCTGGATGAATATGAGGATGGGGACAAGCTGCGGGTACTCCCCTGTGCTCATGGTGAGGCCCTCACTGCCTGCCCATGCCCCTCTGCCACCAGCAGCCACCAGGTGCTTCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTTAGCCCCAGCTCCCCTTGTTTTTCCTGGGCCTTCAACAGATCCCCCACTGTCCCCTCCCTCTTCCCCTGTTATCCTGGTCTAATAACCCCCCACACATACACCTCTGGTGACCTATTTGCACAGACCGTCGTCTTCCCTCCAGTCTTCTGAGGGATAGGGGACATTCCATCCCAAGCTTCTCCCTTACCCACACCTATCCTTTTGAGGGGCTTTGGGGTGGAGCTGGGGCAAGCAGAGGGACTGGGTCTTCACTTCTTGGGCTAATAAAATTGTTTCTTTGTGGACTAAGGAAGGGTAAGATCATTCTCACACAGGTGAACTTAACCCTTTGGTGGAATCACCCCTTTAGCCATAAGGAGCAAGGGAATGCTGAGAGACACTAACCTATAGTCATGGGGACAGCCCCAGCCGGCATTTGCTATGACTCAGAAGGGGGAGCCCCACCCACAAGGATGACTCAACTAGCCCTGCCTTGCCTGCAGGCCTGCACCCATTCTCTGGTCCAGATGGCTCTATTCCATCATCCACCAATTTGACCAGCACACTGAGGACTTAGGCCTGGAAATGCCACTGTGGAGGGGCAGGGCCACCTGGCCAGAAGCTCAAATTCCTGCACCTTGTAGTACCTCAACCTCCCTGCTCCCAAGCCACGATAAAGGAGGCAAGTCACAGTGCCTATCCCCCATTCTGACACCCAAGCTCAAATCACACAGCACCTTGTTAGTAGAATCTTTTTTATTCAGAAAAAAAAAACCCCAAAAAACAAAAGTTTTCCAACCACACACGGGAGGGATATGGGTAGGGGGAGGTGTCTGTCCATCCAGCCCTGGCCCCCAGCCCATGTGGTTTTGGCAGCAATAAGGGGTATGGGGTAATGGCCCAAAAAATAAAATGGTTTGTGTGTGTATGGGGAGGAAAGGGGTGCAAAGCTGTGGGGAGCGGTGAAGGGGAAGGGACAGACGAGGTCAGTACTGGGAACGCCGAAGGTGGGAGGCCATTTCATAACATTTCTTGTTGATCAAACCACCGTGGACACCTTCTTTGCCCATCAGCAGGACTAGCGCTGGAGGAGGAGGAAAGAGAAAGGAGGCTAGGATCCAGGTGTCACAATTCCACCCCCTGCCAGCTGTTCAGCAGCTGTCCAGCCCTGGGGGCTGTAACCCAACCTCATCTCTCCCAACCCGCCCCCCCACCACACACAGGCAGGCTGTCAGTCACCCTGAAACAATAAGGCTTTTCAAAAGAGGAAAATCAAGCTTAAACGCTGGAGAGGAACAGACTAAAAACTTAGGGGTCAAAGGCTCATAGACTGTTGATTCATGTGTTCAGGCTAGAAAGGGCTGTGGATGTGCATGCCACCTCCAGGTTCTAACAAAAGAACTCAAACGATGAACTCGATGATTCAAGACCCCAACAATCTACCTATACTCCTAGAAAACAGTTTCTAATCCGAGCTCAAGGCAGTAAGTAATTTAAGAGGTAATGCAGTTCAGCAACTTCGAATTACAAGATGAGGAACTGAGACAGAATGGAGGGACTATCCCGTGTTCCAGCATCCAGCAGACAAGGAACACAATACTGGTCTGACTCCCTTCATGTTGGGGAATCACACAAAAAAGCACCCTCAAGATTACCAGAAGGCGGTACATTAGAGATCTTGGAGCTAAAGGAAGGGTAAGACTCAGGAACTCACTCTTGTCAGTCTTGGTGACAGTGACATTGAAGGTGGGGGCCCCACCGGTGCTCTTGGTACGAAGATCCATGCTAAATTCCCCATCCTGCAGCAGTGAGTCCCGGATCACCGAACATTTCTGGCCCCCAAGTGTCAGCCCATTCACGTAAAAACTTGACCGGTCTTTGCCAACCAGGACACCCACCTCAGCTGGCTGGAAGAGGAACCAAGCGCCCATCAAGTTAGTCAGTGCACCAAGATTCCCACCGTGTTCTCCAAAGACCCACCTGTCTTCCACTTCTGAGAACCACCCCGCCGTGGGGGCTAAGTATAAATTATATACTCAGTACACATCAATGAACTGTGAGAAACTCTGAGGACTGTGGGACGTTAGTGCAGAAAAAGATCATGATTCTGAAACTTAGAATATGGAACCAGGGAGGAAGGGATGACATACTCCTCTAGAGATTTAGATGTCAGTGTTAATGGGGAAAGTAAACCCAGGAAATAAAGGGAGTCAGTGAGGTAAGTGAGGAGCCTTTGGATGCTCAGAACTCTCCTTCAGGAAAAGCAGAAGCGGAGAGGGGAAGGGAGGGGGGCGGGCGAGGCAAGAGAAGCAACTTTGCCCTTATTTGGTCAAAGGTTCTGCAGGAGCTGTTAGGGCCCGGACGCCTGGGTCTCCAAGTAACCTAGAGTTTAGCTCCAGGTATCTCTGCTCTGAGATGAGGAAGCAGACCCCTGGGGGCTTTCCGGGAAAGTTGGAAAACTTTTGAAGGTGGACAGGGGCCAGACCCGGCAGGCCAGCTCTCGGGTCTAGGTACCCCGGGAACCTTTCCCCCCTCCCCCTTTCACCCCAAGCCCCCACATCCGGTCCCCTCCCGCCCGGAAACCCCCTTCCCCCCCCTTTTGAACTTCCGCTCCCCCTCCCCACTTCCGGGCAGTGTGGACAGGGAGATGGTGGTGGGAGCAGCGGTAGTAAACCAATATACTTTCGCTTATGCTGTCTCAGAACTTCTCACAAAGTTCCCCTGCTCCAGGCCCCGCCGGATGGCGGGAAGGGAGGGCGAGGGGACTTCCGGGATTGGCCTCGCAGGAATGTTGAATCCAACGTGCTGAGCTGGGGGGGCGTGTGGTGGCCTCGCCCTCTCTAACGGAGTTAGGAGGGGCCAGAAGCCCACAGAGGGTGGGCAAGGGACCAAGACCACGCGCCTGGGGCTCCCTTCCGCACCAGGAGAAACAATGGTAGAGGGACGCGGGCTGGCAGCCGGACGGGGAGCTGGGGGTCCAAGGATCCCCGGGTCCCCTCTCAATCCCAATCCCCAGTAAAAACTGAGGCGCGTCCCCGCCCCGCCCTGGGAGAGGCGGAAGTGGGCCGCCGCACCGGGCGCCGCGCCCCTCCCCGCCCTGTGCC
|
GCGGAGGTTGTCGGGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCGACAGAGGGAGTCCCTTTCTCAAAAAAATAATAATAAAAATAAAGATGGCAGTAGGAAGGTTTCAGCTTGAGATGCTGTCTTTTCTTCTGTTTTTATGCATAAATACAACGAAGACGGGAGAGGAGATGGAAAGCAAAGATGATTAAGTGAAATAATTGTGGGAAACAATAGAGGGATAGACTTTGCTTATAGGGGATGTGGACAGAGCAGAAAAATGGGAGGAATGGGGAGGATTCAGTTAGAGAAGGAAGAAACCGGTACCAAGGGGCTGGGGCTTTAGGCCCTGGGGCCTCCAGTGCCCGTATAAGGCTGTGGCAGAAGCCCTGCCCATTTCCGTTCCTTCCACTCCCTATCTCCACCCTCACACCTCCCCAAAAACCCACTTCCCTTCTTACCTCTGCTTCTCTTTGCTTGTCCCTTCTAGCCCTAAATTCTTCCATGTTCTGCCCTGACCTTATCCTGCCTACCTGTCTTATCTCTTCCACTGGCTTTGTAGGTGAGGGGAAATTTTTGCAAGGCTTTAAAAGCCTTAGCCCTGGGTCATTGTGGCTCAGTGAAGGACTAGATTATTTTCTTTCTGTCCCAGGAGACCAGTATGATGTCTGTGCCATTTGCCTGGATGAATATGAGGATGGGGACAAGCTGCGGGTACTCCCCTGTGCTCATGGTGAGGCCCTCACTGCCTGCCCATGCCCCTCTGCCACCAGCAGCCACCAGGTGCTTCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTTAGCCCCAGCTCCCCTTGTTTTTCCTGGGCCTTCAACAGATCCCCCACTGTCCCCTCCCTCTTCCCCTGTTATCCTGGTCTAATAACCCCCCACACATACACCTCTGGTGACCTATTTGCACAGACCGTCGTCTTCCCTCCAGTCTTCTGAGGGATAGGGGACATTCCATCCCAAGCTTCTCCCTTACCCACACCTATCCTTTTGAGGGGCTTTGGGGTGGAGCTGGGGCAAGCAGAGGGACTGGGTCTTCACTTCTTGGGCTAATAAAATTGTTTCTTTGTGGACTAAGGAAGGGTAAGATCATTCTCACACAGGTGAACTTAACCCTTTGGTGGAATCACCCCTTTAGCCATAAGGAGCAAGGGAATGCTGAGAGACACTAACCTATAGTCATGGGGACAGCCCCAGCCGGCATTTGCTATGACTCAGAAGGGGGAGCCCCACCCACAAGGATGACTCAACTAGCCCTGCCTTGCCTGCAGGCCTGCACCCATTCTCTGGTCCAGATGGCTCTATTCCATCATCCACCAATTTGACCAGCACACTGAGGACTTAGGCCTGGAAATGCCACTGTGGAGGGGCAGGGCCACCTGGCCAGAAGCTCAAATTCCTGCACCTTGTAGTACCTCAACCTCCCTGCTCCCAAGCCACGATAAAGGAGGCAAGTCACAGTGCCTATCCCCCATTCTGACACCCAAGCTCAAATCACACAGCACCTTGTTAGTAGAATCTTTTTTATTCAGAAAAAAAAAACCCCAAAAAACAAAAGTTTTCCAACCACACACGGGAGGGATATGGGTAGGGGGAGGTGTCTGTCCATCCAGCCCTGGCCCCCAGCCCATGTGGTTTTGGCAGCAATAAGGGGTATGGGGTAATGGCCCAAAAAATAAAATGGTTTGTGTGTGTATGGGGAGGAAAGGGGTGCAAAGCTGTGGGGAGCGGTGAAGGGGAAGGGACAGACGAGGTCAGTACTGGGAACGCCGAAGGTGGGAGGCCATTTCATAACATTTCTTGTTGATCAAACCACCGTGGACAACTTCTTTGCCCATCAGCAGGACTAGCGCTGGAGGAGGAGGAAAGAGAAAGGAGGCTAGGATCCAGGTGTCACAATTCCACCCCCTGCCAGCTGTTCAGCAGCTGTCCAGCCCTGGGGGCTGTAACCCAACCTCATCTCTCCCAACCCGCCCCCCCACCACACACAGGCAGGCTGTCAGTCACCCTGAAACAATAAGGCTTTTCAAAAGAGGAAAATCAAGCTTAAACGCTGGAGAGGAACAGACTAAAAACTTAGGGGTCAAAGGCTCATAGACTGTTGATTCATGTGTTCAGGCTAGAAAGGGCTGTGGATGTGCATGCCACCTCCAGGTTCTAACAAAAGAACTCAAACGATGAACTCGATGATTCAAGACCCCAACAATCTACCTATACTCCTAGAAAACAGTTTCTAATCCGAGCTCAAGGCAGTAAGTAATTTAAGAGGTAATGCAGTTCAGCAACTTCGAATTACAAGATGAGGAACTGAGACAGAATGGAGGGACTATCCCGTGTTCCAGCATCCAGCAGACAAGGAACACAATACTGGTCTGACTCCCTTCATGTTGGGGAATCACACAAAAAAGCACCCTCAAGATTACCAGAAGGCGGTACATTAGAGATCTTGGAGCTAAAGGAAGGGTAAGACTCAGGAACTCACTCTTGTCAGTCTTGGTGACAGTGACATTGAAGGTGGGGGCCCCACCGGTGCTCTTGGTACGAAGATCCATGCTAAATTCCCCATCCTGCAGCAGTGAGTCCCGGATCACCGAACATTTCTGGCCCCCAAGTGTCAGCCCATTCACGTAAAAACTTGACCGGTCTTTGCCAACCAGGACACCCACCTCAGCTGGCTGGAAGAGGAACCAAGCGCCCATCAAGTTAGTCAGTGCACCAAGATTCCCACCGTGTTCTCCAAAGACCCACCTGTCTTCCACTTCTGAGAACCACCCCGCCGTGGGGGCTAAGTATAAATTATATACTCAGTACACATCAATGAACTGTGAGAAACTCTGAGGACTGTGGGACGTTAGTGCAGAAAAAGATCATGATTCTGAAACTTAGAATATGGAACCAGGGAGGAAGGGATGACATACTCCTCTAGAGATTTAGATGTCAGTGTTAATGGGGAAAGTAAACCCAGGAAATAAAGGGAGTCAGTGAGGTAAGTGAGGAGCCTTTGGATGCTCAGAACTCTCCTTCAGGAAAAGCAGAAGCGGAGAGGGGAAGGGAGGGGGGCGGGCGAGGCAAGAGAAGCAACTTTGCCCTTATTTGGTCAAAGGTTCTGCAGGAGCTGTTAGGGCCCGGACGCCTGGGTCTCCAAGTAACCTAGAGTTTAGCTCCAGGTATCTCTGCTCTGAGATGAGGAAGCAGACCCCTGGGGGCTTTCCGGGAAAGTTGGAAAACTTTTGAAGGTGGACAGGGGCCAGACCCGGCAGGCCAGCTCTCGGGTCTAGGTACCCCGGGAACCTTTCCCCCCTCCCCCTTTCACCCCAAGCCCCCACATCCGGTCCCCTCCCGCCCGGAAACCCCCTTCCCCCCCCTTTTGAACTTCCGCTCCCCCTCCCCACTTCCGGGCAGTGTGGACAGGGAGATGGTGGTGGGAGCAGCGGTAGTAAACCAATATACTTTCGCTTATGCTGTCTCAGAACTTCTCACAAAGTTCCCCTGCTCCAGGCCCCGCCGGATGGCGGGAAGGGAGGGCGAGGGGACTTCCGGGATTGGCCTCGCAGGAATGTTGAATCCAACGTGCTGAGCTGGGGGGGCGTGTGGTGGCCTCGCCCTCTCTAACGGAGTTAGGAGGGGCCAGAAGCCCACAGAGGGTGGGCAAGGGACCAAGACCACGCGCCTGGGGCTCCCTTCCGCACCAGGAGAAACAATGGTAGAGGGACGCGGGCTGGCAGCCGGACGGGGAGCTGGGGGTCCAAGGATCCCCGGGTCCCCTCTCAATCCCAATCCCCAGTAAAAACTGAGGCGCGTCCCCGCCCCGCCCTGGGAGAGGCGGAAGTGGGCCGCCGCACCGGGCGCCGCGCCCCTCCCCGCCCTGTGCC
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Task1_train_23307
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A variant on Chromosome 17 in gene PFN1 (profilin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; not provided
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GGGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCGACAGAGGGAGTCCCTTTCTCAAAAAAATAATAATAAAAATAAAGATGGCAGTAGGAAGGTTTCAGCTTGAGATGCTGTCTTTTCTTCTGTTTTTATGCATAAATACAACGAAGACGGGAGAGGAGATGGAAAGCAAAGATGATTAAGTGAAATAATTGTGGGAAACAATAGAGGGATAGACTTTGCTTATAGGGGATGTGGACAGAGCAGAAAAATGGGAGGAATGGGGAGGATTCAGTTAGAGAAGGAAGAAACCGGTACCAAGGGGCTGGGGCTTTAGGCCCTGGGGCCTCCAGTGCCCGTATAAGGCTGTGGCAGAAGCCCTGCCCATTTCCGTTCCTTCCACTCCCTATCTCCACCCTCACACCTCCCCAAAAACCCACTTCCCTTCTTACCTCTGCTTCTCTTTGCTTGTCCCTTCTAGCCCTAAATTCTTCCATGTTCTGCCCTGACCTTATCCTGCCTACCTGTCTTATCTCTTCCACTGGCTTTGTAGGTGAGGGGAAATTTTTGCAAGGCTTTAAAAGCCTTAGCCCTGGGTCATTGTGGCTCAGTGAAGGACTAGATTATTTTCTTTCTGTCCCAGGAGACCAGTATGATGTCTGTGCCATTTGCCTGGATGAATATGAGGATGGGGACAAGCTGCGGGTACTCCCCTGTGCTCATGGTGAGGCCCTCACTGCCTGCCCATGCCCCTCTGCCACCAGCAGCCACCAGGTGCTTCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTTAGCCCCAGCTCCCCTTGTTTTTCCTGGGCCTTCAACAGATCCCCCACTGTCCCCTCCCTCTTCCCCTGTTATCCTGGTCTAATAACCCCCCACACATACACCTCTGGTGACCTATTTGCACAGACCGTCGTCTTCCCTCCAGTCTTCTGAGGGATAGGGGACATTCCATCCCAAGCTTCTCCCTTACCCACACCTATCCTTTTGAGGGGCTTTGGGGTGGAGCTGGGGCAAGCAGAGGGACTGGGTCTTCACTTCTTGGGCTAATAAAATTGTTTCTTTGTGGACTAAGGAAGGGTAAGATCATTCTCACACAGGTGAACTTAACCCTTTGGTGGAATCACCCCTTTAGCCATAAGGAGCAAGGGAATGCTGAGAGACACTAACCTATAGTCATGGGGACAGCCCCAGCCGGCATTTGCTATGACTCAGAAGGGGGAGCCCCACCCACAAGGATGACTCAACTAGCCCTGCCTTGCCTGCAGGCCTGCACCCATTCTCTGGTCCAGATGGCTCTATTCCATCATCCACCAATTTGACCAGCACACTGAGGACTTAGGCCTGGAAATGCCACTGTGGAGGGGCAGGGCCACCTGGCCAGAAGCTCAAATTCCTGCACCTTGTAGTACCTCAACCTCCCTGCTCCCAAGCCACGATAAAGGAGGCAAGTCACAGTGCCTATCCCCCATTCTGACACCCAAGCTCAAATCACACAGCACCTTGTTAGTAGAATCTTTTTTATTCAGAAAAAAAAAACCCCAAAAAACAAAAGTTTTCCAACCACACACGGGAGGGATATGGGTAGGGGGAGGTGTCTGTCCATCCAGCCCTGGCCCCCAGCCCATGTGGTTTTGGCAGCAATAAGGGGTATGGGGTAATGGCCCAAAAAATAAAATGGTTTGTGTGTGTATGGGGAGGAAAGGGGTGCAAAGCTGTGGGGAGCGGTGAAGGGGAAGGGACAGACGAGGTCAGTACTGGGAACGCCGAAGGTGGGAGGCCATTTCATAACATTTCTTGTTGATCAAACCACCGTGGACACCTTCTTTGCCCATCAGCAGGACTAGCGCTGGAGGAGGAGGAAAGAGAAAGGAGGCTAGGATCCAGGTGTCACAATTCCACCCCCTGCCAGCTGTTCAGCAGCTGTCCAGCCCTGGGGGCTGTAACCCAACCTCATCTCTCCCAACCCGCCCCCCCACCACACACAGGCAGGCTGTCAGTCACCCTGAAACAATAAGGCTTTTCAAAAGAGGAAAATCAAGCTTAAACGCTGGAGAGGAACAGACTAAAAACTTAGGGGTCAAAGGCTCATAGACTGTTGATTCATGTGTTCAGGCTAGAAAGGGCTGTGGATGTGCATGCCACCTCCAGGTTCTAACAAAAGAACTCAAACGATGAACTCGATGATTCAAGACCCCAACAATCTACCTATACTCCTAGAAAACAGTTTCTAATCCGAGCTCAAGGCAGTAAGTAATTTAAGAGGTAATGCAGTTCAGCAACTTCGAATTACAAGATGAGGAACTGAGACAGAATGGAGGGACTATCCCGTGTTCCAGCATCCAGCAGACAAGGAACACAATACTGGTCTGACTCCCTTCATGTTGGGGAATCACACAAAAAAGCACCCTCAAGATTACCAGAAGGCGGTACATTAGAGATCTTGGAGCTAAAGGAAGGGTAAGACTCAGGAACTCACTCTTGTCAGTCTTGGTGACAGTGACATTGAAGGTGGGGGCCCCACCGGTGCTCTTGGTACGAAGATCCATGCTAAATTCCCCATCCTGCAGCAGTGAGTCCCGGATCACCGAACATTTCTGGCCCCCAAGTGTCAGCCCATTCACGTAAAAACTTGACCGGTCTTTGCCAACCAGGACACCCACCTCAGCTGGCTGGAAGAGGAACCAAGCGCCCATCAAGTTAGTCAGTGCACCAAGATTCCCACCGTGTTCTCCAAAGACCCACCTGTCTTCCACTTCTGAGAACCACCCCGCCGTGGGGGCTAAGTATAAATTATATACTCAGTACACATCAATGAACTGTGAGAAACTCTGAGGACTGTGGGACGTTAGTGCAGAAAAAGATCATGATTCTGAAACTTAGAATATGGAACCAGGGAGGAAGGGATGACATACTCCTCTAGAGATTTAGATGTCAGTGTTAATGGGGAAAGTAAACCCAGGAAATAAAGGGAGTCAGTGAGGTAAGTGAGGAGCCTTTGGATGCTCAGAACTCTCCTTCAGGAAAAGCAGAAGCGGAGAGGGGAAGGGAGGGGGGCGGGCGAGGCAAGAGAAGCAACTTTGCCCTTATTTGGTCAAAGGTTCTGCAGGAGCTGTTAGGGCCCGGACGCCTGGGTCTCCAAGTAACCTAGAGTTTAGCTCCAGGTATCTCTGCTCTGAGATGAGGAAGCAGACCCCTGGGGGCTTTCCGGGAAAGTTGGAAAACTTTTGAAGGTGGACAGGGGCCAGACCCGGCAGGCCAGCTCTCGGGTCTAGGTACCCCGGGAACCTTTCCCCCCTCCCCCTTTCACCCCAAGCCCCCACATCCGGTCCCCTCCCGCCCGGAAACCCCCTTCCCCCCCCTTTTGAACTTCCGCTCCCCCTCCCCACTTCCGGGCAGTGTGGACAGGGAGATGGTGGTGGGAGCAGCGGTAGTAAACCAATATACTTTCGCTTATGCTGTCTCAGAACTTCTCACAAAGTTCCCCTGCTCCAGGCCCCGCCGGATGGCGGGAAGGGAGGGCGAGGGGACTTCCGGGATTGGCCTCGCAGGAATGTTGAATCCAACGTGCTGAGCTGGGGGGGCGTGTGGTGGCCTCGCCCTCTCTAACGGAGTTAGGAGGGGCCAGAAGCCCACAGAGGGTGGGCAAGGGACCAAGACCACGCGCCTGGGGCTCCCTTCCGCACCAGGAGAAACAATGGTAGAGGGACGCGGGCTGGCAGCCGGACGGGGAGCTGGGGGTCCAAGGATCCCCGGGTCCCCTCTCAATCCCAATCCCCAGTAAAAACTGAGGCGCGTCCCCGCCCCGCCCTGGGAGAGGCGGAAGTGGGCCGCCGCACCGGGCGCCGCGCCCCTCCCCGCCCTGTGCCCCGGATGTAACG
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GGGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCGACAGAGGGAGTCCCTTTCTCAAAAAAATAATAATAAAAATAAAGATGGCAGTAGGAAGGTTTCAGCTTGAGATGCTGTCTTTTCTTCTGTTTTTATGCATAAATACAACGAAGACGGGAGAGGAGATGGAAAGCAAAGATGATTAAGTGAAATAATTGTGGGAAACAATAGAGGGATAGACTTTGCTTATAGGGGATGTGGACAGAGCAGAAAAATGGGAGGAATGGGGAGGATTCAGTTAGAGAAGGAAGAAACCGGTACCAAGGGGCTGGGGCTTTAGGCCCTGGGGCCTCCAGTGCCCGTATAAGGCTGTGGCAGAAGCCCTGCCCATTTCCGTTCCTTCCACTCCCTATCTCCACCCTCACACCTCCCCAAAAACCCACTTCCCTTCTTACCTCTGCTTCTCTTTGCTTGTCCCTTCTAGCCCTAAATTCTTCCATGTTCTGCCCTGACCTTATCCTGCCTACCTGTCTTATCTCTTCCACTGGCTTTGTAGGTGAGGGGAAATTTTTGCAAGGCTTTAAAAGCCTTAGCCCTGGGTCATTGTGGCTCAGTGAAGGACTAGATTATTTTCTTTCTGTCCCAGGAGACCAGTATGATGTCTGTGCCATTTGCCTGGATGAATATGAGGATGGGGACAAGCTGCGGGTACTCCCCTGTGCTCATGGTGAGGCCCTCACTGCCTGCCCATGCCCCTCTGCCACCAGCAGCCACCAGGTGCTTCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTTAGCCCCAGCTCCCCTTGTTTTTCCTGGGCCTTCAACAGATCCCCCACTGTCCCCTCCCTCTTCCCCTGTTATCCTGGTCTAATAACCCCCCACACATACACCTCTGGTGACCTATTTGCACAGACCGTCGTCTTCCCTCCAGTCTTCTGAGGGATAGGGGACATTCCATCCCAAGCTTCTCCCTTACCCACACCTATCCTTTTGAGGGGCTTTGGGGTGGAGCTGGGGCAAGCAGAGGGACTGGGTCTTCACTTCTTGGGCTAATAAAATTGTTTCTTTGTGGACTAAGGAAGGGTAAGATCATTCTCACACAGGTGAACTTAACCCTTTGGTGGAATCACCCCTTTAGCCATAAGGAGCAAGGGAATGCTGAGAGACACTAACCTATAGTCATGGGGACAGCCCCAGCCGGCATTTGCTATGACTCAGAAGGGGGAGCCCCACCCACAAGGATGACTCAACTAGCCCTGCCTTGCCTGCAGGCCTGCACCCATTCTCTGGTCCAGATGGCTCTATTCCATCATCCACCAATTTGACCAGCACACTGAGGACTTAGGCCTGGAAATGCCACTGTGGAGGGGCAGGGCCACCTGGCCAGAAGCTCAAATTCCTGCACCTTGTAGTACCTCAACCTCCCTGCTCCCAAGCCACGATAAAGGAGGCAAGTCACAGTGCCTATCCCCCATTCTGACACCCAAGCTCAAATCACACAGCACCTTGTTAGTAGAATCTTTTTTATTCAGAAAAAAAAAACCCCAAAAAACAAAAGTTTTCCAACCACACACGGGAGGGATATGGGTAGGGGGAGGTGTCTGTCCATCCAGCCCTGGCCCCCAGCCCATGTGGTTTTGGCAGCAATAAGGGGTATGGGGTAATGGCCCAAAAAATAAAATGGTTTGTGTGTGTATGGGGAGGAAAGGGGTGCAAAGCTGTGGGGAGCGGTGAAGGGGAAGGGACAGACGAGGTCAGTACTGGGAACGCCGAAGGTGGGAGGCCATTTCATAACATTTCTTGTTGATCAAACCACCGTGGACACCTTCTTTGCCCGTCAGCAGGACTAGCGCTGGAGGAGGAGGAAAGAGAAAGGAGGCTAGGATCCAGGTGTCACAATTCCACCCCCTGCCAGCTGTTCAGCAGCTGTCCAGCCCTGGGGGCTGTAACCCAACCTCATCTCTCCCAACCCGCCCCCCCACCACACACAGGCAGGCTGTCAGTCACCCTGAAACAATAAGGCTTTTCAAAAGAGGAAAATCAAGCTTAAACGCTGGAGAGGAACAGACTAAAAACTTAGGGGTCAAAGGCTCATAGACTGTTGATTCATGTGTTCAGGCTAGAAAGGGCTGTGGATGTGCATGCCACCTCCAGGTTCTAACAAAAGAACTCAAACGATGAACTCGATGATTCAAGACCCCAACAATCTACCTATACTCCTAGAAAACAGTTTCTAATCCGAGCTCAAGGCAGTAAGTAATTTAAGAGGTAATGCAGTTCAGCAACTTCGAATTACAAGATGAGGAACTGAGACAGAATGGAGGGACTATCCCGTGTTCCAGCATCCAGCAGACAAGGAACACAATACTGGTCTGACTCCCTTCATGTTGGGGAATCACACAAAAAAGCACCCTCAAGATTACCAGAAGGCGGTACATTAGAGATCTTGGAGCTAAAGGAAGGGTAAGACTCAGGAACTCACTCTTGTCAGTCTTGGTGACAGTGACATTGAAGGTGGGGGCCCCACCGGTGCTCTTGGTACGAAGATCCATGCTAAATTCCCCATCCTGCAGCAGTGAGTCCCGGATCACCGAACATTTCTGGCCCCCAAGTGTCAGCCCATTCACGTAAAAACTTGACCGGTCTTTGCCAACCAGGACACCCACCTCAGCTGGCTGGAAGAGGAACCAAGCGCCCATCAAGTTAGTCAGTGCACCAAGATTCCCACCGTGTTCTCCAAAGACCCACCTGTCTTCCACTTCTGAGAACCACCCCGCCGTGGGGGCTAAGTATAAATTATATACTCAGTACACATCAATGAACTGTGAGAAACTCTGAGGACTGTGGGACGTTAGTGCAGAAAAAGATCATGATTCTGAAACTTAGAATATGGAACCAGGGAGGAAGGGATGACATACTCCTCTAGAGATTTAGATGTCAGTGTTAATGGGGAAAGTAAACCCAGGAAATAAAGGGAGTCAGTGAGGTAAGTGAGGAGCCTTTGGATGCTCAGAACTCTCCTTCAGGAAAAGCAGAAGCGGAGAGGGGAAGGGAGGGGGGCGGGCGAGGCAAGAGAAGCAACTTTGCCCTTATTTGGTCAAAGGTTCTGCAGGAGCTGTTAGGGCCCGGACGCCTGGGTCTCCAAGTAACCTAGAGTTTAGCTCCAGGTATCTCTGCTCTGAGATGAGGAAGCAGACCCCTGGGGGCTTTCCGGGAAAGTTGGAAAACTTTTGAAGGTGGACAGGGGCCAGACCCGGCAGGCCAGCTCTCGGGTCTAGGTACCCCGGGAACCTTTCCCCCCTCCCCCTTTCACCCCAAGCCCCCACATCCGGTCCCCTCCCGCCCGGAAACCCCCTTCCCCCCCCTTTTGAACTTCCGCTCCCCCTCCCCACTTCCGGGCAGTGTGGACAGGGAGATGGTGGTGGGAGCAGCGGTAGTAAACCAATATACTTTCGCTTATGCTGTCTCAGAACTTCTCACAAAGTTCCCCTGCTCCAGGCCCCGCCGGATGGCGGGAAGGGAGGGCGAGGGGACTTCCGGGATTGGCCTCGCAGGAATGTTGAATCCAACGTGCTGAGCTGGGGGGGCGTGTGGTGGCCTCGCCCTCTCTAACGGAGTTAGGAGGGGCCAGAAGCCCACAGAGGGTGGGCAAGGGACCAAGACCACGCGCCTGGGGCTCCCTTCCGCACCAGGAGAAACAATGGTAGAGGGACGCGGGCTGGCAGCCGGACGGGGAGCTGGGGGTCCAAGGATCCCCGGGTCCCCTCTCAATCCCAATCCCCAGTAAAAACTGAGGCGCGTCCCCGCCCCGCCCTGGGAGAGGCGGAAGTGGGCCGCCGCACCGGGCGCCGCGCCCCTCCCCGCCCTGTGCCCCGGATGTAACG
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Task1_train_23308
|
This mutation occurs in PFN1 (profilin 1) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Amyotrophic lateral sclerosis type 18
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TCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTTAGCCCCAGCTCCCCTTGTTTTTCCTGGGCCTTCAACAGATCCCCCACTGTCCCCTCCCTCTTCCCCTGTTATCCTGGTCTAATAACCCCCCACACATACACCTCTGGTGACCTATTTGCACAGACCGTCGTCTTCCCTCCAGTCTTCTGAGGGATAGGGGACATTCCATCCCAAGCTTCTCCCTTACCCACACCTATCCTTTTGAGGGGCTTTGGGGTGGAGCTGGGGCAAGCAGAGGGACTGGGTCTTCACTTCTTGGGCTAATAAAATTGTTTCTTTGTGGACTAAGGAAGGGTAAGATCATTCTCACACAGGTGAACTTAACCCTTTGGTGGAATCACCCCTTTAGCCATAAGGAGCAAGGGAATGCTGAGAGACACTAACCTATAGTCATGGGGACAGCCCCAGCCGGCATTTGCTATGACTCAGAAGGGGGAGCCCCACCCACAAGGATGACTCAACTAGCCCTGCCTTGCCTGCAGGCCTGCACCCATTCTCTGGTCCAGATGGCTCTATTCCATCATCCACCAATTTGACCAGCACACTGAGGACTTAGGCCTGGAAATGCCACTGTGGAGGGGCAGGGCCACCTGGCCAGAAGCTCAAATTCCTGCACCTTGTAGTACCTCAACCTCCCTGCTCCCAAGCCACGATAAAGGAGGCAAGTCACAGTGCCTATCCCCCATTCTGACACCCAAGCTCAAATCACACAGCACCTTGTTAGTAGAATCTTTTTTATTCAGAAAAAAAAAACCCCAAAAAACAAAAGTTTTCCAACCACACACGGGAGGGATATGGGTAGGGGGAGGTGTCTGTCCATCCAGCCCTGGCCCCCAGCCCATGTGGTTTTGGCAGCAATAAGGGGTATGGGGTAATGGCCCAAAAAATAAAATGGTTTGTGTGTGTATGGGGAGGAAAGGGGTGCAAAGCTGTGGGGAGCGGTGAAGGGGAAGGGACAGACGAGGTCAGTACTGGGAACGCCGAAGGTGGGAGGCCATTTCATAACATTTCTTGTTGATCAAACCACCGTGGACACCTTCTTTGCCCATCAGCAGGACTAGCGCTGGAGGAGGAGGAAAGAGAAAGGAGGCTAGGATCCAGGTGTCACAATTCCACCCCCTGCCAGCTGTTCAGCAGCTGTCCAGCCCTGGGGGCTGTAACCCAACCTCATCTCTCCCAACCCGCCCCCCCACCACACACAGGCAGGCTGTCAGTCACCCTGAAACAATAAGGCTTTTCAAAAGAGGAAAATCAAGCTTAAACGCTGGAGAGGAACAGACTAAAAACTTAGGGGTCAAAGGCTCATAGACTGTTGATTCATGTGTTCAGGCTAGAAAGGGCTGTGGATGTGCATGCCACCTCCAGGTTCTAACAAAAGAACTCAAACGATGAACTCGATGATTCAAGACCCCAACAATCTACCTATACTCCTAGAAAACAGTTTCTAATCCGAGCTCAAGGCAGTAAGTAATTTAAGAGGTAATGCAGTTCAGCAACTTCGAATTACAAGATGAGGAACTGAGACAGAATGGAGGGACTATCCCGTGTTCCAGCATCCAGCAGACAAGGAACACAATACTGGTCTGACTCCCTTCATGTTGGGGAATCACACAAAAAAGCACCCTCAAGATTACCAGAAGGCGGTACATTAGAGATCTTGGAGCTAAAGGAAGGGTAAGACTCAGGAACTCACTCTTGTCAGTCTTGGTGACAGTGACATTGAAGGTGGGGGCCCCACCGGTGCTCTTGGTACGAAGATCCATGCTAAATTCCCCATCCTGCAGCAGTGAGTCCCGGATCACCGAACATTTCTGGCCCCCAAGTGTCAGCCCATTCACGTAAAAACTTGACCGGTCTTTGCCAACCAGGACACCCACCTCAGCTGGCTGGAAGAGGAACCAAGCGCCCATCAAGTTAGTCAGTGCACCAAGATTCCCACCGTGTTCTCCAAAGACCCACCTGTCTTCCACTTCTGAGAACCACCCCGCCGTGGGGGCTAAGTATAAATTATATACTCAGTACACATCAATGAACTGTGAGAAACTCTGAGGACTGTGGGACGTTAGTGCAGAAAAAGATCATGATTCTGAAACTTAGAATATGGAACCAGGGAGGAAGGGATGACATACTCCTCTAGAGATTTAGATGTCAGTGTTAATGGGGAAAGTAAACCCAGGAAATAAAGGGAGTCAGTGAGGTAAGTGAGGAGCCTTTGGATGCTCAGAACTCTCCTTCAGGAAAAGCAGAAGCGGAGAGGGGAAGGGAGGGGGGCGGGCGAGGCAAGAGAAGCAACTTTGCCCTTATTTGGTCAAAGGTTCTGCAGGAGCTGTTAGGGCCCGGACGCCTGGGTCTCCAAGTAACCTAGAGTTTAGCTCCAGGTATCTCTGCTCTGAGATGAGGAAGCAGACCCCTGGGGGCTTTCCGGGAAAGTTGGAAAACTTTTGAAGGTGGACAGGGGCCAGACCCGGCAGGCCAGCTCTCGGGTCTAGGTACCCCGGGAACCTTTCCCCCCTCCCCCTTTCACCCCAAGCCCCCACATCCGGTCCCCTCCCGCCCGGAAACCCCCTTCCCCCCCCTTTTGAACTTCCGCTCCCCCTCCCCACTTCCGGGCAGTGTGGACAGGGAGATGGTGGTGGGAGCAGCGGTAGTAAACCAATATACTTTCGCTTATGCTGTCTCAGAACTTCTCACAAAGTTCCCCTGCTCCAGGCCCCGCCGGATGGCGGGAAGGGAGGGCGAGGGGACTTCCGGGATTGGCCTCGCAGGAATGTTGAATCCAACGTGCTGAGCTGGGGGGGCGTGTGGTGGCCTCGCCCTCTCTAACGGAGTTAGGAGGGGCCAGAAGCCCACAGAGGGTGGGCAAGGGACCAAGACCACGCGCCTGGGGCTCCCTTCCGCACCAGGAGAAACAATGGTAGAGGGACGCGGGCTGGCAGCCGGACGGGGAGCTGGGGGTCCAAGGATCCCCGGGTCCCCTCTCAATCCCAATCCCCAGTAAAAACTGAGGCGCGTCCCCGCCCCGCCCTGGGAGAGGCGGAAGTGGGCCGCCGCACCGGGCGCCGCGCCCCTCCCCGCCCTGTGCCCCGGATGTAACGCCCCGTCGCGGAAAGCGGGGTAGCGGGCGGGATGGGCGCCGCCGCCTGGGGCATAGGACCTACGGGCAACTGAGGGACCCACTCACGTGCAGCCGCCATTCGCGCCGCTTCCAGGGCAAGCACCCAGTCAGGGCCTCTCGCTGCGCGCCCTAGACCGCGCCCGCCCCCACCCAAGTCCCTCCCTCAGGGTCCAAACCGGAGCAGTGCCCCGGACCGCGCAGGCCTCGCAGTACCGTGATGTTGACGAACGTTTTCCCGGGGACGGCGGCCCAGACGGAGGGCGAGTCCTTGTAGCCCACGATGGCCGCGTCCTGACAGGTCCCGTCCGCCATGAGGTTGTCGATGTAGGCGTTCCACCCGGCCATGGCGCTGCTACTGGGGCTGCTCTCGGCGCTGCTGCTGGGGCCGCGGACTGGGCTCGAGCTGCCTCGGCTGGCGGGCGGGGGGAGGCGGAGAGCTCGGGGCACGCGCTGCCGTCCGGACCGCGGCTCCGCTCGCTGTGCAGCAGCCCTCGCACCGCCACTTCCTGCTCCTCCCCCCCCCCGCCCCGCTAGATTTTTATTTGCAAAGGACGGTAGGGGCGGGGCCTACTCCCCATTCCCTCCCTCCCCCACTCGCCAGCCCAGACACCGAACTTTGCAAATGCAATTTTAAAAATCCCTCCCCCTATTGCAAAATTTGCAGAGTTCGATGGAAAGCAATGCAGAAGGATGGGGGGTGGCGGGAGAGAGGTGAAGGGTAGGGTTTGCTCCAATTTGCA
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TCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTTAGCCCCAGCTCCCCTTGTTTTTCCTGGGCCTTCAACAGATCCCCCACTGTCCCCTCCCTCTTCCCCTGTTATCCTGGTCTAATAACCCCCCACACATACACCTCTGGTGACCTATTTGCACAGACCGTCGTCTTCCCTCCAGTCTTCTGAGGGATAGGGGACATTCCATCCCAAGCTTCTCCCTTACCCACACCTATCCTTTTGAGGGGCTTTGGGGTGGAGCTGGGGCAAGCAGAGGGACTGGGTCTTCACTTCTTGGGCTAATAAAATTGTTTCTTTGTGGACTAAGGAAGGGTAAGATCATTCTCACACAGGTGAACTTAACCCTTTGGTGGAATCACCCCTTTAGCCATAAGGAGCAAGGGAATGCTGAGAGACACTAACCTATAGTCATGGGGACAGCCCCAGCCGGCATTTGCTATGACTCAGAAGGGGGAGCCCCACCCACAAGGATGACTCAACTAGCCCTGCCTTGCCTGCAGGCCTGCACCCATTCTCTGGTCCAGATGGCTCTATTCCATCATCCACCAATTTGACCAGCACACTGAGGACTTAGGCCTGGAAATGCCACTGTGGAGGGGCAGGGCCACCTGGCCAGAAGCTCAAATTCCTGCACCTTGTAGTACCTCAACCTCCCTGCTCCCAAGCCACGATAAAGGAGGCAAGTCACAGTGCCTATCCCCCATTCTGACACCCAAGCTCAAATCACACAGCACCTTGTTAGTAGAATCTTTTTTATTCAGAAAAAAAAAACCCCAAAAAACAAAAGTTTTCCAACCACACACGGGAGGGATATGGGTAGGGGGAGGTGTCTGTCCATCCAGCCCTGGCCCCCAGCCCATGTGGTTTTGGCAGCAATAAGGGGTATGGGGTAATGGCCCAAAAAATAAAATGGTTTGTGTGTGTATGGGGAGGAAAGGGGTGCAAAGCTGTGGGGAGCGGTGAAGGGGAAGGGACAGACGAGGTCAGTACTGGGAACGCCGAAGGTGGGAGGCCATTTCATAACATTTCTTGTTGATCAAACCACCGTGGACACCTTCTTTGCCCATCAGCAGGACTAGCGCTGGAGGAGGAGGAAAGAGAAAGGAGGCTAGGATCCAGGTGTCACAATTCCACCCCCTGCCAGCTGTTCAGCAGCTGTCCAGCCCTGGGGGCTGTAACCCAACCTCATCTCTCCCAACCCGCCCCCCCACCACACACAGGCAGGCTGTCAGTCACCCTGAAACAATAAGGCTTTTCAAAAGAGGAAAATCAAGCTTAAACGCTGGAGAGGAACAGACTAAAAACTTAGGGGTCAAAGGCTCATAGACTGTTGATTCATGTGTTCAGGCTAGAAAGGGCTGTGGATGTGCATGCCACCTCCAGGTTCTAACAAAAGAACTCAAACGATGAACTCGATGATTCAAGACCCCAACAATCTACCTATACTCCTAGAAAACAGTTTCTAATCCGAGCTCAAGGCAGTAAGTAATTTAAGAGGTAATGCAGTTCAGCAACTTCGAATTACAAGATGAGGAACTGAGACAGAATGGAGGGACTATCCCGTGTTCCAGCATCCAGCAGACAAGGAACACAATACTGGTCTGACTCCCTTCATGTTGGGGAATCACACAAAAAAGCACCCTCAAGATTACCAGAAGGCGGTACATTAGAGATCTTGGAGCTAAAGGAAGGGTAAGACTCAGGAACTCACTCTTGTCAGTCTTGGTGACAGTGACATTGAAGGTGGGGGCCCCACCGGTGCTCTTGGTACGAAGATCCATGCTAAATTCCCCATCCTGCAGCAGTGAGTCCCGGATCACCGAACCTTTCTGGCCCCCAAGTGTCAGCCCATTCACGTAAAAACTTGACCGGTCTTTGCCAACCAGGACACCCACCTCAGCTGGCTGGAAGAGGAACCAAGCGCCCATCAAGTTAGTCAGTGCACCAAGATTCCCACCGTGTTCTCCAAAGACCCACCTGTCTTCCACTTCTGAGAACCACCCCGCCGTGGGGGCTAAGTATAAATTATATACTCAGTACACATCAATGAACTGTGAGAAACTCTGAGGACTGTGGGACGTTAGTGCAGAAAAAGATCATGATTCTGAAACTTAGAATATGGAACCAGGGAGGAAGGGATGACATACTCCTCTAGAGATTTAGATGTCAGTGTTAATGGGGAAAGTAAACCCAGGAAATAAAGGGAGTCAGTGAGGTAAGTGAGGAGCCTTTGGATGCTCAGAACTCTCCTTCAGGAAAAGCAGAAGCGGAGAGGGGAAGGGAGGGGGGCGGGCGAGGCAAGAGAAGCAACTTTGCCCTTATTTGGTCAAAGGTTCTGCAGGAGCTGTTAGGGCCCGGACGCCTGGGTCTCCAAGTAACCTAGAGTTTAGCTCCAGGTATCTCTGCTCTGAGATGAGGAAGCAGACCCCTGGGGGCTTTCCGGGAAAGTTGGAAAACTTTTGAAGGTGGACAGGGGCCAGACCCGGCAGGCCAGCTCTCGGGTCTAGGTACCCCGGGAACCTTTCCCCCCTCCCCCTTTCACCCCAAGCCCCCACATCCGGTCCCCTCCCGCCCGGAAACCCCCTTCCCCCCCCTTTTGAACTTCCGCTCCCCCTCCCCACTTCCGGGCAGTGTGGACAGGGAGATGGTGGTGGGAGCAGCGGTAGTAAACCAATATACTTTCGCTTATGCTGTCTCAGAACTTCTCACAAAGTTCCCCTGCTCCAGGCCCCGCCGGATGGCGGGAAGGGAGGGCGAGGGGACTTCCGGGATTGGCCTCGCAGGAATGTTGAATCCAACGTGCTGAGCTGGGGGGGCGTGTGGTGGCCTCGCCCTCTCTAACGGAGTTAGGAGGGGCCAGAAGCCCACAGAGGGTGGGCAAGGGACCAAGACCACGCGCCTGGGGCTCCCTTCCGCACCAGGAGAAACAATGGTAGAGGGACGCGGGCTGGCAGCCGGACGGGGAGCTGGGGGTCCAAGGATCCCCGGGTCCCCTCTCAATCCCAATCCCCAGTAAAAACTGAGGCGCGTCCCCGCCCCGCCCTGGGAGAGGCGGAAGTGGGCCGCCGCACCGGGCGCCGCGCCCCTCCCCGCCCTGTGCCCCGGATGTAACGCCCCGTCGCGGAAAGCGGGGTAGCGGGCGGGATGGGCGCCGCCGCCTGGGGCATAGGACCTACGGGCAACTGAGGGACCCACTCACGTGCAGCCGCCATTCGCGCCGCTTCCAGGGCAAGCACCCAGTCAGGGCCTCTCGCTGCGCGCCCTAGACCGCGCCCGCCCCCACCCAAGTCCCTCCCTCAGGGTCCAAACCGGAGCAGTGCCCCGGACCGCGCAGGCCTCGCAGTACCGTGATGTTGACGAACGTTTTCCCGGGGACGGCGGCCCAGACGGAGGGCGAGTCCTTGTAGCCCACGATGGCCGCGTCCTGACAGGTCCCGTCCGCCATGAGGTTGTCGATGTAGGCGTTCCACCCGGCCATGGCGCTGCTACTGGGGCTGCTCTCGGCGCTGCTGCTGGGGCCGCGGACTGGGCTCGAGCTGCCTCGGCTGGCGGGCGGGGGGAGGCGGAGAGCTCGGGGCACGCGCTGCCGTCCGGACCGCGGCTCCGCTCGCTGTGCAGCAGCCCTCGCACCGCCACTTCCTGCTCCTCCCCCCCCCCGCCCCGCTAGATTTTTATTTGCAAAGGACGGTAGGGGCGGGGCCTACTCCCCATTCCCTCCCTCCCCCACTCGCCAGCCCAGACACCGAACTTTGCAAATGCAATTTTAAAAATCCCTCCCCCTATTGCAAAATTTGCAGAGTTCGATGGAAAGCAATGCAGAAGGATGGGGGGTGGCGGGAGAGAGGTGAAGGGTAGGGTTTGCTCCAATTTGCA
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Task1_train_23309
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This variant lies on Chromosome 17 and affects the gene ENO3 (enolase 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Glycogen storage disease due to muscle beta-enolase deficiency
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TACTAGGCACATGCTAAGAACTTTACATTCAATTTCTCTAATTTTCAGCAAAAGATCCTACAGGGAAGTAGGTGCTATCCCCATTTTACAGAAATGAGGAAAGAGAGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACCCACCTATAGTCCCAGCTACTAGGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCGCCATTGCACTCCAGCCTGGTGACAAAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAATGAGGAAAGAGGCTCTTGAGCAAAACTACTCATCCTAGACCACTGAGCTAGTAAGTAGGGAAGCCAGGTTTCCACCCCAACACCCCCCGCCCCTGTCCCTTCTTGAGCTCTCATGCCCCGGCCCAGGTCCAGACACCCTCTCCCCATCTCAGGCCTTCAATGTGATCAACGGGGGCTCCCATGCTGGAAACAAGCTGGCCATGCAGGAGTTCATGATTCTGCCTGTGGGAGCCAGCTCCTTCAAGGAAGCCATGCGCATTGGCGCCGAGGTCTACCACCACCTCAAGGGGGTCATCAAGGCCAAGTATGGGAAGGATGCCACCAATGTGGGTGATGAAGGTGGCTTCGCACCCAACATCCTGGAGAACAATGAGGGTCAGTGCTGAGCACCCTGGGGGGCAGACCCCCTGGATCTCCACATGGGCAGGGGAGGCTGCAGACAAGGGGCACTGGAGTCTCAGGTCCTTTCTTGGTCCTCCCCCAGCCCTGGAGCTGCTGAAGACGGCCATCCAGGCGGCTGGTTACCCAGACAAGGTGGTGATCGGCATGGATGTGGCAGCATCTGAGTTCTATCGCAATGGGAAGTACGATCTTGACTTCAAGTCGCCTGATGATCCCGCACGGCACATCACTGGGGAGAAGCTCGGAGAGCTGTATAAGAGCTTTATCAAGAACTATCCTGGTGAGGCGTTCGGGTGTCCCAGTGTTCCTGCCCGAATCCCGTGCAGCTGCCTAATATACTGATTTCAGTGACCTGCTTTGCCATCGACTTGGATCCTTCCAATTCTTAGCCCCATTAAAATCCCCATTTAAGCTCTTCTGCCCTGTCACCCCTCCATGAGGCTCCTTCTGACCTCTAGCCGTGTCTCTGCCCTGTCTCTGCCTTGTCTCTGCCCTGTCTCTGCTCTGTCTCTGCCCTGTCTCTGCCCTGTCTCTGCCCTGTCTCTGCTCTGTCTCTGCCCTGTCTCTGCCCTGTCTCTGCTCTGTCTCTGCCCTGTCTCTGCTCCAAACCCCACCAGTGGTCTCCATCGAAGACCCCTTTGACCAGGATGACTGGGCCACTTGGACCTCCTTCCTCTCGGGGGTGAACATCCAGATTGTGGGGGATGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGTCAACCAGATCGGCTCGGTGACCGAATCGATCCAGGCGTGAGTGCCTCCTGACCCTGAGGCTCACCATAGCCTGCCTCTGCCCCAGCTCTGCCCACTCCAGCTACAGTCTTACCCACCAACTCCAAGCTTACCTTTCCCCTGGCACCTGACTTACCCACACCTTGATCTCAAGACTTTGTTTGACTAATCCTTGGCCTGACTCCAAGAGCTTTGCCCCTGTGGCTCTGTCATGACCCCCCACCCCCAGCCCACACCATTCCTCTCTCAGATTCCGCTGTTCTCAGCAGCATCTCAAGAGCCCGAAATCAAGATAAGTCTTTTCCTCTCCTACTTCCCAAAGAACTTAGTCACTGCCCTCCCTGCAGAGTGCTTGCTACCCAAAACAGAAGGGAGAGGCCCCACCCAACCCCTGCTTTCCCACTGAGGAGGTTCTAGAAGGCCACATCAAATGTCCTCTCCACTCAGGTGCAAACTGGCTCAGTCTAATGGCTGGGGGGTGATGGTGAGCCACCGCTCTGGGGAGACTGAGGACACATTCATTGCTGACCTTGTGGTGGGGCTCTGCACAGGACAGGTACTTGTAGCTTCTCTCTACTGAGTGTCTCACCAAGTTTTCTTGGGGTCCCTGGCCTCCTGCCTTTGAGGTTAATGCTCCCTTGGGGCCAGGTCCAACCCCTCCTTTCCAGCCTCACCTAACCCTCCAAATTCTTCTTCCCTCATCAGATCAAGACTGGCGCCCCCTGCCGCTCGGAGCGTCTGGCCAAATACAACCAACTCATGAGGTACAGCGGGAACAGTGGGCCTGGGCATTGGGGTGCTGGAGGCTGTTAGGTTGGAAGTTCAGCAGCCCTAACCTTGCCTGCATTCTAGGATCGAGGAGGCTCTTGGGGACAAGGCAATCTTTGCTGGACGCAAGTTCCGTAACCCGAAGGCCAAGTGAGAAGCTGGAGGCTCCAGGACTCCACTGGACAGACCCAGGTCTTCCAGACCTGCTTCCTGAAATAAACACTGGTGCCAACCAAGACAGCTGTGTGCTTCTTTGTGGGAGCTAGGGGATGCTGGTTTCTGGGCTGAGCTGGGGAAAACAGGAGGTGGCGAGATGGGGGCGGGGAGGGGAGGCAAATAGATATGTAACCTGCTAGGACAAAGAGGAGGTGAGGGACTCACAGAGGAAGCTGGGTGGTTCTAGAACAACAGAGGTGTTCACATTTCCAAAGGAGGTAGGGGAAGCAGATGCTATATGGTAAAATGAAGCTGCAGAGTTGCCAATGGAGCCGGGCATGGTGGCGCTCGCCTGTAGTCCCAGATACCTGGGAGGCTGAGTTGAGAGGATCGCTTGAGCCCAGGAGGTTGAGGCTGCAGTACACTATGTTCGTACCACTGCACTCCAGCCTGGGCTGCAGAGCAAGACCCTGTCTCAAAGCAACAACAACAAAAAAAAACAAAAACAAACAAAAAAACTAAATAAAGAGTTTCAGAGGGAATAAGAAACCAGCTCCAGGAGAGGGGAGCAGGGTGGGGACTGGGGTCCTGCCACCACCATGAAGGGGAAGCTGGCTGTGAAGTAAATGGTCTGCAGAGGATGCTAGAGTGAGGCTGCAGTCCTAGGGAGGGCTTTGTGAGGATGAGAGTGATAATGACAGTGGCTGCCTCTCCTATAGAACTTACAGGATCTTGGCAGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGGGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGTTACTCGGAGGCTGAGGCAGGAGAATCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAACTTACAGGATCTGAAACTGTTCTAAATATTTGACATATATTGCCCTGTGCAATTGTTCAAACAGCTCTGTCAGATAGCTGCCATAATTATCCTTATTTTATAGGTGAGGAAACCTGAGGCACAAAAGGTTAAATGCCTTACCCAAGGTAACGGTTGGCAGCTGGCAGGGCTAGGATCCAAAGCCAAGGTATTTGACTCCAGCGATTATACTCTCATGTATTTATTTTGAGCCAGCTTCTTGATCTGTCACCCAGGCAGGAGTGCAGTGATGCGATCATAGTTCACTGTAGCCTCAAACTCCTGGGCTCAAGCAATTCTCTTGCCTCAGCCTGCAAAGTAGCTGGGACTACAGGTGCACACCACCAGGTATGGCTAATTTTTAAATTTTGTATATTTTATTTTCTTTTTGTAGAGAAGGTTTGTGGCCTAGACTGATCTCAAACTCCTGGAGTCAAGCGATTCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATCGCAGGTGTGAGCCACTGCGCTCAACCAATTTTTTAAT
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TACTAGGCACATGCTAAGAACTTTACATTCAATTTCTCTAATTTTCAGCAAAAGATCCTACAGGGAAGTAGGTGCTATCCCCATTTTACAGAAATGAGGAAAGAGAGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACCCACCTATAGTCCCAGCTACTAGGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCGCCATTGCACTCCAGCCTGGTGACAAAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAATGAGGAAAGAGGCTCTTGAGCAAAACTACTCATCCTAGACCACTGAGCTAGTAAGTAGGGAAGCCAGGTTTCCACCCCAACACCCCCCGCCCCTGTCCCTTCTTGAGCTCTCATGCCCCGGCCCAGGTCCAGACACCCTCTCCCCATCTCAGGCCTTCAATGTGATCAACGGGGGCTCCCATGCTGGAAACAAGCTGGCCATGCAGGAGTTCATGATTCTGCCTGTGGGAGCCAGCTCCTTCAAGGAAGCCATGCGCATTGGCGCCGAGGTCTACCACCACCTCAAGGGGGTCATCAAGGCCAAGTATGGGAAGGATGCCACCAATGTGGGTGATGAAGGTGGCTTCGCACCCAACATCCTGGAGAACAATGAGGGTCAGTGCTGAGCACCCTGGGGGGCAGACCCCCTGGATCTCCACATGGGCAGGGGAGGCTGCAGACAAGGGGCACTGGAGTCTCAGGTCCTTTCTTGGTCCTCCCCCAGCCCTGGAGCTGCTGAAGACGGCCATCCAGGCGGCTGGTTACCCAGACAAGGTGGTGATCGGCATGGATGTGGCAGCATCTGAGTTCTATCGCAATGGGAAGTACGATCTTGACTTCAAGTCGCCTGATGATCCCGCACGGCACATCACTGGGGAGAAGCTCGGAGAGCTGTATAAGAGCTTTATCAAGAACTATCCTGGTGAGGCGTTCGGGTGTCCCAGTGTTCCTGCCCGAATCCCGTGCAGCTGCCTAATATACTGATTTCAGTGACCTGCTTTGCCATCGACTTGGATCCTTCCAATTCTTAGCCCCATTAAAATCCCCATTTAAGCTCTTCTGCCCTGTCACCCCTCCATGAGGCTCCTTCTGACCTCTAGCCGTGTCTCTGCCCTGTCTCTGCCTTGTCTCTGCCCTGTCTCTGCTCTGTCTCTGCCCTGTCTCTGCCCTGTCTCTGCCCTGTCTCTGCTCTGTCTCTGCCCTGTCTCTGCCCTGTCTCTGCTCTGTCTCTGCCCTGTCTCTGCTCCAAACCCCACCAGTGGTCTCCATCGAAGACCCCTTTGACCAGGATGACTGGGCCACTTGGACCTCCTTCCTCTCGGGGGTGAACATCCAGATTGTGGGGGATGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGTCAACCAGATCGGCTCGGTGACCGAATCGATCCAGGCGTGAGTGCCTCCTGACCCTGAGGCTCACCATAGCCTGCCTCTGCCCCAGCTCTGCCCACTCCAGCTACAGTCTTACCCACCAACTCCAAGCTTACCTTTCCCCTGGCACCTGACTTACCCACACCTTGATCTCAAGACTTTGTTTGACTAATCCTTGGCCTGACTCCAAGAGCTTTGCCCCTGTGGCTCTGTCATGACCCCCCACCCCCAGCCCACACCATTCCTCTCTCAGATTCCGCTGTTCTCAGCAGCATCTCAAGAGCCCGAAATCAAGATAAGTCTTTTCCTCTCCTACTTCCCAAAGAACTTAGTCACTGCCCTCCCTGCAGAGTGCTTGCTACCCAAAACAGAAGGGAGAGGCCCCACCCAACCCCTGCTTTCCCACTGAGGAGGTTCTAGAAGGCCACATCAAATGTCCTCTCCACTCAGGTACAAACTGGCTCAGTCTAATGGCTGGGGGGTGATGGTGAGCCACCGCTCTGGGGAGACTGAGGACACATTCATTGCTGACCTTGTGGTGGGGCTCTGCACAGGACAGGTACTTGTAGCTTCTCTCTACTGAGTGTCTCACCAAGTTTTCTTGGGGTCCCTGGCCTCCTGCCTTTGAGGTTAATGCTCCCTTGGGGCCAGGTCCAACCCCTCCTTTCCAGCCTCACCTAACCCTCCAAATTCTTCTTCCCTCATCAGATCAAGACTGGCGCCCCCTGCCGCTCGGAGCGTCTGGCCAAATACAACCAACTCATGAGGTACAGCGGGAACAGTGGGCCTGGGCATTGGGGTGCTGGAGGCTGTTAGGTTGGAAGTTCAGCAGCCCTAACCTTGCCTGCATTCTAGGATCGAGGAGGCTCTTGGGGACAAGGCAATCTTTGCTGGACGCAAGTTCCGTAACCCGAAGGCCAAGTGAGAAGCTGGAGGCTCCAGGACTCCACTGGACAGACCCAGGTCTTCCAGACCTGCTTCCTGAAATAAACACTGGTGCCAACCAAGACAGCTGTGTGCTTCTTTGTGGGAGCTAGGGGATGCTGGTTTCTGGGCTGAGCTGGGGAAAACAGGAGGTGGCGAGATGGGGGCGGGGAGGGGAGGCAAATAGATATGTAACCTGCTAGGACAAAGAGGAGGTGAGGGACTCACAGAGGAAGCTGGGTGGTTCTAGAACAACAGAGGTGTTCACATTTCCAAAGGAGGTAGGGGAAGCAGATGCTATATGGTAAAATGAAGCTGCAGAGTTGCCAATGGAGCCGGGCATGGTGGCGCTCGCCTGTAGTCCCAGATACCTGGGAGGCTGAGTTGAGAGGATCGCTTGAGCCCAGGAGGTTGAGGCTGCAGTACACTATGTTCGTACCACTGCACTCCAGCCTGGGCTGCAGAGCAAGACCCTGTCTCAAAGCAACAACAACAAAAAAAAACAAAAACAAACAAAAAAACTAAATAAAGAGTTTCAGAGGGAATAAGAAACCAGCTCCAGGAGAGGGGAGCAGGGTGGGGACTGGGGTCCTGCCACCACCATGAAGGGGAAGCTGGCTGTGAAGTAAATGGTCTGCAGAGGATGCTAGAGTGAGGCTGCAGTCCTAGGGAGGGCTTTGTGAGGATGAGAGTGATAATGACAGTGGCTGCCTCTCCTATAGAACTTACAGGATCTTGGCAGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGGGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGTTACTCGGAGGCTGAGGCAGGAGAATCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAACTTACAGGATCTGAAACTGTTCTAAATATTTGACATATATTGCCCTGTGCAATTGTTCAAACAGCTCTGTCAGATAGCTGCCATAATTATCCTTATTTTATAGGTGAGGAAACCTGAGGCACAAAAGGTTAAATGCCTTACCCAAGGTAACGGTTGGCAGCTGGCAGGGCTAGGATCCAAAGCCAAGGTATTTGACTCCAGCGATTATACTCTCATGTATTTATTTTGAGCCAGCTTCTTGATCTGTCACCCAGGCAGGAGTGCAGTGATGCGATCATAGTTCACTGTAGCCTCAAACTCCTGGGCTCAAGCAATTCTCTTGCCTCAGCCTGCAAAGTAGCTGGGACTACAGGTGCACACCACCAGGTATGGCTAATTTTTAAATTTTGTATATTTTATTTTCTTTTTGTAGAGAAGGTTTGTGGCCTAGACTGATCTCAAACTCCTGGAGTCAAGCGATTCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATCGCAGGTGTGAGCCACTGCGCTCAACCAATTTTTTAAT
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Task1_train_23310
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A variant has been detected on Chromosome 17 in KIF1C (kinesin family member 1C). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Spastic ataxia 2
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AACTAAGAGGAGGGTAATGCTGGGCACAGAGCAGGTGCTAGTCGTAAGGGCGGGGGCTGGGGCAGGCTGGCCTTTCCCGTGTTCCCAGTCCCTGGGAGGGGGAATGTTGGCCTGGAGCCCTCCATTGCCCAATCCAGGGAGGCAGCTCAGTGGGGGCGGGTCCTAGGAAGCCAAAATTAGCTTTGGTGGCTGGAGGGGGTGGGGAATGTTAAAGGGGAGAGAAGAGTCAGGACAGTGGTGAGGAGTGGGATGCTTGGATTCCAGGGGCTGGTTGGGGTATGGGCAGGGACTGGGAATACCTGACCTTGACTTTCCTTCCTTTACCCTCTCCTGCCCCTCAGCCATCATCAATCCTAAACAGAGCAAGGATGCCCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGGGGAATCGTCAGTGATGGAAGCAAGACTCTTGGGACAGAGACACAAAGGATAAAGACATCCAGGGTTACTCTGTTTTTCTCTGCCCCCACTTTCTCCTAGACGGAGGACCCCCAGTTTGCATCTCAGCAGCAAGTGTATCGGGACATTGGAGAAGAGATGCTGCTCCACGCCTTTGAAGGCTACAACGTGTGCATCTTTGCCTATGGGCAGACCGGGGCTGGGAAATCCTATACCATGATGGGGCGACAGGAGCCAGGGCAGCAGGGCATCGTGCCCCAGGTACGCCTAGGACCTGGTGGGGCAGCCAGGGCAGGAGCATCTTTAGCTGCCCTCTGAGGAAGGAAGGACTAGGGTCGGAGGATTATGGAACAGAGACCTGGCTCTGAGGCCATTGGTGATGGGAGATAGAGGTTGACTGCAAGCTGGACAACCCTCTGGGGTGGGAGGGTCTTCGCCCCTATCAGAGGCAACGAGCCTCAGTGAGTAGAGCAGGGCTTTGGCATCAGTGAGCCTTGGGTTCGAGCGCCAGTTTTACGACTTACTACTGTTTTACTTGGTTTCATAATAATTTGTGAGTATAGTTCTCCTGCAGGCTTGTGTACCACCAGCAGAGTGTTAACTGTAGAAACGCCAATTGGGATAACGGAGTTAACCATAATTGTCCCTGGCTGTCCAGCATAGCAACCTGGCACACGGGCTTGGGAGTCAGAACTCCTGGGGTTTGCACCCTGGCTGGCTGAACGGTAGCCTGTGATCTTGGGCAAGTGGGGACCTCTCTGAGGTTGTTTTCCCATCTGTGAAATGGGAATAACCCCTCCCTCAAGGCTGTAGCAAGGGTTAAATGGGGTCACTTGGGACTGGGCCTGGCCTGTGGCTGGACACTTTAGGTGTGCCCTGAACAGGAGCTTCTCTGTATTTCCCTGTGTCCCCCTCCAGCTCTGTGAGGACCTCTTCTCTCGCGTTAGTGAGAACCAGAGTGCTCAGCTATCCTACTCTGTGGAGGTAAGCCCGGGTCTTGGTGGCAGGGCTGAGAGGGGTCCAGACTGCTGAGGGCTGTCGCTGGAATCAGACAGCCTGGGATCTAATCCTGGCTCTGCTGGTTACTGACTGTGACTTTGGGGCAGTGATTCTGTCCTTCAGCTTCGTATGTTCATCTGGGAGACGCTGTTGATCGGACACACCTCCTGGCTTGTTGGGCAGGTCGCTGAGCTAGCATCTGCAGAATGCTTCGCACTGTGTATTAGCTGCAGTCACCTGGATCGTGTCCAGTGGAGTCAGATTAAGTTGCGTTGTCATTGTTTTTGCTAGTTTTGTTACTTCTCATTTGCTTCTCCCACTCAGGTGAGCTATATGGAGATCTACTGTGAGCGGGTACGAGACCTCTTGAACCCCAAGAGTCGGGGTTCTCTGCGGGTCCGGGAGCACCCCATCCTGGGCCCGTACGTGCAGGACCTGTCCAAATTGGCTGTGACCTCCTACGCAGACATTGCTGACCTCATGGACTGTGGAAATAAAGCACGGTGAGGCAGGCTGATGGAGCAGAGGGCAAGGGGGCCAGGGTTGGGAAGGTGAGAGGCAGGATCCAGTGACTGCTTTCTTTACCCTAAGGACTGTGGCTGCCACCAACATGAATGAGACCAGCAGCCGTTCCCATGCCGTCTTTACCATCGTCTTCACACAGCGCTGCCATGACCAGCTCACGGGGCTGGACTCGGAGAAGGTGGGATCGCCCCCCCCCCCACTCCCCCACCGGATGCAACCTCCCCTGGCAACAGGGACAGTGACATGGTAGAAGGGTCTTGGGCCCTCCCTGCCCATGCTGGGTTGAGTGCCTCCTCAGGACTACCATGACCGCGCCCCACCCCTACCCTGTTTTTCCGTCAGATCAGTCTGTCCCCCTCTACTGTTTGCTTGTCTTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTTACCCAGGTTGGAGTACAGTGGTGCAGTGGTGCGATGTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATTACAGGCATGCGCCACCAGGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCCGGCTGTTCTTACGAGACCCAGGACAGGGCTTGGATCCCCTGTGTGTCCCTTGTCCATGCCTGCGGTGGGCCTGTAGCTATTTGTAATTGAGTGAGTAACCACCGTCTCACTGTTGTCACGTATTCTGTTTCCCCCGGCCTCCTCCCTCGCCTCCTCCTGGCTCTCTCTAGCCCTTGCCAGCTGCCCACATTCCTGCTGGGTGCTTCCCTGATTTCCCTGCCCCGTCCCCCACCCGCACCTTATCTCCTGCCTGTTTCCTCTGACCCCAGGTCAGTAAGATCAGTTTGGTGGACCTTGCTGGGAGTGAGCGAGCCGACTCCTCAGGGGCCCGGGGCATGCGCCTGAAGGTGAGGGGCCTTCAGAGGGTGGTTTGTTGTGGGGCAGTGTTGTGGGCTGTATGTGGAGGTCTCCAGTCGGAACCTGAGACTCTCACTGGGGAGGTAGGAAGCGGAAGTGGATCACATTGGGAGAAGAGGGTCTCATCCCCACATTCCTCATCCTTTTCCAGGAAGGAGCCAACATCAATAAGTCCCTGACTACACTAGGGAAAGTGATCTCGGCCCTTGCAGATATGGTGAGACCTGGGTGTTGGAAAGAAGGGGCTTGGGAAAGGGGAGTGACCCACCCTAACCTCCTTCCTCCTTTTATCCCCCAGCAATCAAAGAAGCGAAAGTCGGATTTTATCCCCTACAGGGACTCTGTGCTCACCTGGCTGCTCAAGGAAAATTTGGGTGAGGGCCTCTTCCTCTTTCTCTGCCGACCCTGACACATCCCACAAACTCTTTTGATACATCTGACAAATCCCCTTGCTATGCCGAGAATCCCAAATCCCGTTGTCTTACTTCTCCCCCTGACCCTTCAAAGGGAACATCCTTTGAAGATTTCCTGATGCTGAGAACAAGGCCATACCCTCCCGTCAAGCCAAGGGCCTCACTGACCTGGCTACTCATGACCCCTCCCTGATCCCTGATCTCACACCCACTGCTGCACTGCTGACTTCATCCCCCTTCCATGGTTCTGTGACTGTCCTGCAGATATATCTCCCTGACCTCATCCCCTCCCATAACCAGATGTCATGGTTAGCTCCACCCCGCTAGACTCCCCTACCTCAGACCATGACCCTGTAAGACCTCTGCCTGGGCAGTGGGCCCCAGCCCTGTGACCCGGTCTGACTTTGCTTAGCC
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AACTAAGAGGAGGGTAATGCTGGGCACAGAGCAGGTGCTAGTCGTAAGGGCGGGGGCTGGGGCAGGCTGGCCTTTCCCGTGTTCCCAGTCCCTGGGAGGGGGAATGTTGGCCTGGAGCCCTCCATTGCCCAATCCAGGGAGGCAGCTCAGTGGGGGCGGGTCCTAGGAAGCCAAAATTAGCTTTGGTGGCTGGAGGGGGTGGGGAATGTTAAAGGGGAGAGAAGAGTCAGGACAGTGGTGAGGAGTGGGATGCTTGGATTCCAGGGGCTGGTTGGGGTATGGGCAGGGACTGGGAATACCTGACCTTGACTTTCCTTCCTTTACCCTCTCCTGCCCCTCAGCCATCATCAATCCTAAACAGAGCAAGGATGCCCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGGGGAATCGTCAGTGATGGAAGCAAGACTCTTGGGACAGAGACACAAAGGATAAAGACATCCAGGGTTACTCTGTTTTTCTCTGCCCCCACTTTCTCCTAGACGGAGGACCCCCAGTTTGCATCTCAGCAGCAAGTGTATCGGGACATTGGAGAAGAGATGCTGCTCCACGCCTTTGAAGGCTACAACGTGTGCATCTTTGCCTATGGGCAGACCGGGGCTGGGAAATCCTATACCATGATGGGGCGACAGGAGCCAGGGCAGCAGGGCATCGTGCCCCAGGTACGCCTAGGACCTGGTGGGGCAGCCAGGGCAGGAGCATCTTTAGCTGCCCTCTGAGGAAGGAAGGACTAGGGTCGGAGGATTATGGAACAGAGACCTGGCTCTGAGGCCATTGGTGATGGGAGATAGAGGTTGACTGCAAGCTGGACAACCCTCTGGGGTGGGAGGGTCTTCGCCCCTATCAGAGGCAACGAGCCTCAGTGAGTAGAGCAGGGCTTTGGCATCAGTGAGCCTTGGGTTCGAGCGCCAGTTTTACGACTTACTACTGTTTTACTTGGTTTCATAATAATTTGTGAGTATAGTTCTCCTGCAGGCTTGTGTACCACCAGCAGAGTGTTAACTGTAGAAACGCCAATTGGGATAACGGAGTTAACCATAATTGTCCCTGGCTGTCCAGCATAGCAACCTGGCACACGGGCTTGGGAGTCAGAACTCCTGGGGTTTGCACCCTGGCTGGCTGAACGGTAGCCTGTGATCTTGGGCAAGTGGGGACCTCTCTGAGGTTGTTTTCCCATCTGTGAAATGGGAATAACCCCTCCCTCAAGGCTGTAGCAAGGGTTAAATGGGGTCACTTGGGACTGGGCCTGGCCTGTGGCTGGACACTTTAGGTGTGCCCTGAACAGGAGCTTCTCTGTATTTCCCTGTGTCCCCCTCCAGCTCTGTGAGGACCTCTTCTCTCGCGTTAGTGAGAACCAGAGTGCTCAGCTATCCTACTCTGTGGAGGTAAGCCCGGGTCTTGGTGGCAGGGCTGAGAGGGGTCCAGACTGCTGAGGGCTGTCGCTGGAATCAGACAGCCTGGGATCTAATCCTGGCTCTGCTGGTTACTGACTGTGACTTTGGGGCAGTGATTCTGTCCTTCAGCTTCGTATGTTCATCTGGGAGACGCTGTTGATCGGACACACCTCCTGGCTTGTTGGGCAGGTCGCTGAGCTAGCATCTGCAGAATGCTTCGCACTGTGTATTAGCTGCAGTCACCTGGATCGTGTCCAGTGGAGTCAGATTAAGTTGCGTTGTCATTGTTTTTGCTAGTTTTGTTACTTCTCATTTGCTTCTCCCACTCAGGTGAGCTATATGGAGTTCTACTGTGAGCGGGTACGAGACCTCTTGAACCCCAAGAGTCGGGGTTCTCTGCGGGTCCGGGAGCACCCCATCCTGGGCCCGTACGTGCAGGACCTGTCCAAATTGGCTGTGACCTCCTACGCAGACATTGCTGACCTCATGGACTGTGGAAATAAAGCACGGTGAGGCAGGCTGATGGAGCAGAGGGCAAGGGGGCCAGGGTTGGGAAGGTGAGAGGCAGGATCCAGTGACTGCTTTCTTTACCCTAAGGACTGTGGCTGCCACCAACATGAATGAGACCAGCAGCCGTTCCCATGCCGTCTTTACCATCGTCTTCACACAGCGCTGCCATGACCAGCTCACGGGGCTGGACTCGGAGAAGGTGGGATCGCCCCCCCCCCCACTCCCCCACCGGATGCAACCTCCCCTGGCAACAGGGACAGTGACATGGTAGAAGGGTCTTGGGCCCTCCCTGCCCATGCTGGGTTGAGTGCCTCCTCAGGACTACCATGACCGCGCCCCACCCCTACCCTGTTTTTCCGTCAGATCAGTCTGTCCCCCTCTACTGTTTGCTTGTCTTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTTACCCAGGTTGGAGTACAGTGGTGCAGTGGTGCGATGTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATTACAGGCATGCGCCACCAGGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCCGGCTGTTCTTACGAGACCCAGGACAGGGCTTGGATCCCCTGTGTGTCCCTTGTCCATGCCTGCGGTGGGCCTGTAGCTATTTGTAATTGAGTGAGTAACCACCGTCTCACTGTTGTCACGTATTCTGTTTCCCCCGGCCTCCTCCCTCGCCTCCTCCTGGCTCTCTCTAGCCCTTGCCAGCTGCCCACATTCCTGCTGGGTGCTTCCCTGATTTCCCTGCCCCGTCCCCCACCCGCACCTTATCTCCTGCCTGTTTCCTCTGACCCCAGGTCAGTAAGATCAGTTTGGTGGACCTTGCTGGGAGTGAGCGAGCCGACTCCTCAGGGGCCCGGGGCATGCGCCTGAAGGTGAGGGGCCTTCAGAGGGTGGTTTGTTGTGGGGCAGTGTTGTGGGCTGTATGTGGAGGTCTCCAGTCGGAACCTGAGACTCTCACTGGGGAGGTAGGAAGCGGAAGTGGATCACATTGGGAGAAGAGGGTCTCATCCCCACATTCCTCATCCTTTTCCAGGAAGGAGCCAACATCAATAAGTCCCTGACTACACTAGGGAAAGTGATCTCGGCCCTTGCAGATATGGTGAGACCTGGGTGTTGGAAAGAAGGGGCTTGGGAAAGGGGAGTGACCCACCCTAACCTCCTTCCTCCTTTTATCCCCCAGCAATCAAAGAAGCGAAAGTCGGATTTTATCCCCTACAGGGACTCTGTGCTCACCTGGCTGCTCAAGGAAAATTTGGGTGAGGGCCTCTTCCTCTTTCTCTGCCGACCCTGACACATCCCACAAACTCTTTTGATACATCTGACAAATCCCCTTGCTATGCCGAGAATCCCAAATCCCGTTGTCTTACTTCTCCCCCTGACCCTTCAAAGGGAACATCCTTTGAAGATTTCCTGATGCTGAGAACAAGGCCATACCCTCCCGTCAAGCCAAGGGCCTCACTGACCTGGCTACTCATGACCCCTCCCTGATCCCTGATCTCACACCCACTGCTGCACTGCTGACTTCATCCCCCTTCCATGGTTCTGTGACTGTCCTGCAGATATATCTCCCTGACCTCATCCCCTCCCATAACCAGATGTCATGGTTAGCTCCACCCCGCTAGACTCCCCTACCTCAGACCATGACCCTGTAAGACCTCTGCCTGGGCAGTGGGCCCCAGCCCTGTGACCCGGTCTGACTTTGCTTAGCC
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Task1_train_23311
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Consider a variant on Chromosome 17 in gene KIF1C (kinesin family member 1C). Determine its clinical classification and disease relevance.
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Pathogenic; not provided
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GGCAGGCTGGCCTTTCCCGTGTTCCCAGTCCCTGGGAGGGGGAATGTTGGCCTGGAGCCCTCCATTGCCCAATCCAGGGAGGCAGCTCAGTGGGGGCGGGTCCTAGGAAGCCAAAATTAGCTTTGGTGGCTGGAGGGGGTGGGGAATGTTAAAGGGGAGAGAAGAGTCAGGACAGTGGTGAGGAGTGGGATGCTTGGATTCCAGGGGCTGGTTGGGGTATGGGCAGGGACTGGGAATACCTGACCTTGACTTTCCTTCCTTTACCCTCTCCTGCCCCTCAGCCATCATCAATCCTAAACAGAGCAAGGATGCCCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGGGGAATCGTCAGTGATGGAAGCAAGACTCTTGGGACAGAGACACAAAGGATAAAGACATCCAGGGTTACTCTGTTTTTCTCTGCCCCCACTTTCTCCTAGACGGAGGACCCCCAGTTTGCATCTCAGCAGCAAGTGTATCGGGACATTGGAGAAGAGATGCTGCTCCACGCCTTTGAAGGCTACAACGTGTGCATCTTTGCCTATGGGCAGACCGGGGCTGGGAAATCCTATACCATGATGGGGCGACAGGAGCCAGGGCAGCAGGGCATCGTGCCCCAGGTACGCCTAGGACCTGGTGGGGCAGCCAGGGCAGGAGCATCTTTAGCTGCCCTCTGAGGAAGGAAGGACTAGGGTCGGAGGATTATGGAACAGAGACCTGGCTCTGAGGCCATTGGTGATGGGAGATAGAGGTTGACTGCAAGCTGGACAACCCTCTGGGGTGGGAGGGTCTTCGCCCCTATCAGAGGCAACGAGCCTCAGTGAGTAGAGCAGGGCTTTGGCATCAGTGAGCCTTGGGTTCGAGCGCCAGTTTTACGACTTACTACTGTTTTACTTGGTTTCATAATAATTTGTGAGTATAGTTCTCCTGCAGGCTTGTGTACCACCAGCAGAGTGTTAACTGTAGAAACGCCAATTGGGATAACGGAGTTAACCATAATTGTCCCTGGCTGTCCAGCATAGCAACCTGGCACACGGGCTTGGGAGTCAGAACTCCTGGGGTTTGCACCCTGGCTGGCTGAACGGTAGCCTGTGATCTTGGGCAAGTGGGGACCTCTCTGAGGTTGTTTTCCCATCTGTGAAATGGGAATAACCCCTCCCTCAAGGCTGTAGCAAGGGTTAAATGGGGTCACTTGGGACTGGGCCTGGCCTGTGGCTGGACACTTTAGGTGTGCCCTGAACAGGAGCTTCTCTGTATTTCCCTGTGTCCCCCTCCAGCTCTGTGAGGACCTCTTCTCTCGCGTTAGTGAGAACCAGAGTGCTCAGCTATCCTACTCTGTGGAGGTAAGCCCGGGTCTTGGTGGCAGGGCTGAGAGGGGTCCAGACTGCTGAGGGCTGTCGCTGGAATCAGACAGCCTGGGATCTAATCCTGGCTCTGCTGGTTACTGACTGTGACTTTGGGGCAGTGATTCTGTCCTTCAGCTTCGTATGTTCATCTGGGAGACGCTGTTGATCGGACACACCTCCTGGCTTGTTGGGCAGGTCGCTGAGCTAGCATCTGCAGAATGCTTCGCACTGTGTATTAGCTGCAGTCACCTGGATCGTGTCCAGTGGAGTCAGATTAAGTTGCGTTGTCATTGTTTTTGCTAGTTTTGTTACTTCTCATTTGCTTCTCCCACTCAGGTGAGCTATATGGAGATCTACTGTGAGCGGGTACGAGACCTCTTGAACCCCAAGAGTCGGGGTTCTCTGCGGGTCCGGGAGCACCCCATCCTGGGCCCGTACGTGCAGGACCTGTCCAAATTGGCTGTGACCTCCTACGCAGACATTGCTGACCTCATGGACTGTGGAAATAAAGCACGGTGAGGCAGGCTGATGGAGCAGAGGGCAAGGGGGCCAGGGTTGGGAAGGTGAGAGGCAGGATCCAGTGACTGCTTTCTTTACCCTAAGGACTGTGGCTGCCACCAACATGAATGAGACCAGCAGCCGTTCCCATGCCGTCTTTACCATCGTCTTCACACAGCGCTGCCATGACCAGCTCACGGGGCTGGACTCGGAGAAGGTGGGATCGCCCCCCCCCCCACTCCCCCACCGGATGCAACCTCCCCTGGCAACAGGGACAGTGACATGGTAGAAGGGTCTTGGGCCCTCCCTGCCCATGCTGGGTTGAGTGCCTCCTCAGGACTACCATGACCGCGCCCCACCCCTACCCTGTTTTTCCGTCAGATCAGTCTGTCCCCCTCTACTGTTTGCTTGTCTTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTTACCCAGGTTGGAGTACAGTGGTGCAGTGGTGCGATGTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATTACAGGCATGCGCCACCAGGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCCGGCTGTTCTTACGAGACCCAGGACAGGGCTTGGATCCCCTGTGTGTCCCTTGTCCATGCCTGCGGTGGGCCTGTAGCTATTTGTAATTGAGTGAGTAACCACCGTCTCACTGTTGTCACGTATTCTGTTTCCCCCGGCCTCCTCCCTCGCCTCCTCCTGGCTCTCTCTAGCCCTTGCCAGCTGCCCACATTCCTGCTGGGTGCTTCCCTGATTTCCCTGCCCCGTCCCCCACCCGCACCTTATCTCCTGCCTGTTTCCTCTGACCCCAGGTCAGTAAGATCAGTTTGGTGGACCTTGCTGGGAGTGAGCGAGCCGACTCCTCAGGGGCCCGGGGCATGCGCCTGAAGGTGAGGGGCCTTCAGAGGGTGGTTTGTTGTGGGGCAGTGTTGTGGGCTGTATGTGGAGGTCTCCAGTCGGAACCTGAGACTCTCACTGGGGAGGTAGGAAGCGGAAGTGGATCACATTGGGAGAAGAGGGTCTCATCCCCACATTCCTCATCCTTTTCCAGGAAGGAGCCAACATCAATAAGTCCCTGACTACACTAGGGAAAGTGATCTCGGCCCTTGCAGATATGGTGAGACCTGGGTGTTGGAAAGAAGGGGCTTGGGAAAGGGGAGTGACCCACCCTAACCTCCTTCCTCCTTTTATCCCCCAGCAATCAAAGAAGCGAAAGTCGGATTTTATCCCCTACAGGGACTCTGTGCTCACCTGGCTGCTCAAGGAAAATTTGGGTGAGGGCCTCTTCCTCTTTCTCTGCCGACCCTGACACATCCCACAAACTCTTTTGATACATCTGACAAATCCCCTTGCTATGCCGAGAATCCCAAATCCCGTTGTCTTACTTCTCCCCCTGACCCTTCAAAGGGAACATCCTTTGAAGATTTCCTGATGCTGAGAACAAGGCCATACCCTCCCGTCAAGCCAAGGGCCTCACTGACCTGGCTACTCATGACCCCTCCCTGATCCCTGATCTCACACCCACTGCTGCACTGCTGACTTCATCCCCCTTCCATGGTTCTGTGACTGTCCTGCAGATATATCTCCCTGACCTCATCCCCTCCCATAACCAGATGTCATGGTTAGCTCCACCCCGCTAGACTCCCCTACCTCAGACCATGACCCTGTAAGACCTCTGCCTGGGCAGTGGGCCCCAGCCCTGTGACCCGGTCTGACTTTGCTTAGCCCCTCCCTCAGCTGAAGCTTTTCCATGCACTCCATTCACAGGGGGGAACTCACGCACAGCC
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GGCAGGCTGGCCTTTCCCGTGTTCCCAGTCCCTGGGAGGGGGAATGTTGGCCTGGAGCCCTCCATTGCCCAATCCAGGGAGGCAGCTCAGTGGGGGCGGGTCCTAGGAAGCCAAAATTAGCTTTGGTGGCTGGAGGGGGTGGGGAATGTTAAAGGGGAGAGAAGAGTCAGGACAGTGGTGAGGAGTGGGATGCTTGGATTCCAGGGGCTGGTTGGGGTATGGGCAGGGACTGGGAATACCTGACCTTGACTTTCCTTCCTTTACCCTCTCCTGCCCCTCAGCCATCATCAATCCTAAACAGAGCAAGGATGCCCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGGGGAATCGTCAGTGATGGAAGCAAGACTCTTGGGACAGAGACACAAAGGATAAAGACATCCAGGGTTACTCTGTTTTTCTCTGCCCCCACTTTCTCCTAGACGGAGGACCCCCAGTTTGCATCTCAGCAGCAAGTGTATCGGGACATTGGAGAAGAGATGCTGCTCCACGCCTTTGAAGGCTACAACGTGTGCATCTTTGCCTATGGGCAGACCGGGGCTGGGAAATCCTATACCATGATGGGGCGACAGGAGCCAGGGCAGCAGGGCATCGTGCCCCAGGTACGCCTAGGACCTGGTGGGGCAGCCAGGGCAGGAGCATCTTTAGCTGCCCTCTGAGGAAGGAAGGACTAGGGTCGGAGGATTATGGAACAGAGACCTGGCTCTGAGGCCATTGGTGATGGGAGATAGAGGTTGACTGCAAGCTGGACAACCCTCTGGGGTGGGAGGGTCTTCGCCCCTATCAGAGGCAACGAGCCTCAGTGAGTAGAGCAGGGCTTTGGCATCAGTGAGCCTTGGGTTCGAGCGCCAGTTTTACGACTTACTACTGTTTTACTTGGTTTCATAATAATTTGTGAGTATAGTTCTCCTGCAGGCTTGTGTACCACCAGCAGAGTGTTAACTGTAGAAACGCCAATTGGGATAACGGAGTTAACCATAATTGTCCCTGGCTGTCCAGCATAGCAACCTGGCACACGGGCTTGGGAGTCAGAACTCCTGGGGTTTGCACCCTGGCTGGCTGAACGGTAGCCTGTGATCTTGGGCAAGTGGGGACCTCTCTGAGGTTGTTTTCCCATCTGTGAAATGGGAATAACCCCTCCCTCAAGGCTGTAGCAAGGGTTAAATGGGGTCACTTGGGACTGGGCCTGGCCTGTGGCTGGACACTTTAGGTGTGCCCTGAACAGGAGCTTCTCTGTATTTCCCTGTGTCCCCCTCCAGCTCTGTGAGGACCTCTTCTCTCGCGTTAGTGAGAACCAGAGTGCTCAGCTATCCTACTCTGTGGAGGTAAGCCCGGGTCTTGGTGGCAGGGCTGAGAGGGGTCCAGACTGCTGAGGGCTGTCGCTGGAATCAGACAGCCTGGGATCTAATCCTGGCTCTGCTGGTTACTGACTGTGACTTTGGGGCAGTGATTCTGTCCTTCAGCTTCGTATGTTCATCTGGGAGACGCTGTTGATCGGACACACCTCCTGGCTTGTTGGGCAGGTCGCTGAGCTAGCATCTGCAGAATGCTTCGCACTGTGTATTAGCTGCAGTCACCTGGATCGTGTCCAGTGGAGTCAGATTAAGTTGCGTTGTCATTGTTTTTGCTAGTTTTGTTACTTCTCATTTGCTTCTCCCACTCAGGTGAGCTATATGGAGATCTACTGTGAGCGGGTACGAGACCTCTTGAACCCCAAGAGTCGGGGTTCTCTGCGGGTCTGGGAGCACCCCATCCTGGGCCCGTACGTGCAGGACCTGTCCAAATTGGCTGTGACCTCCTACGCAGACATTGCTGACCTCATGGACTGTGGAAATAAAGCACGGTGAGGCAGGCTGATGGAGCAGAGGGCAAGGGGGCCAGGGTTGGGAAGGTGAGAGGCAGGATCCAGTGACTGCTTTCTTTACCCTAAGGACTGTGGCTGCCACCAACATGAATGAGACCAGCAGCCGTTCCCATGCCGTCTTTACCATCGTCTTCACACAGCGCTGCCATGACCAGCTCACGGGGCTGGACTCGGAGAAGGTGGGATCGCCCCCCCCCCCACTCCCCCACCGGATGCAACCTCCCCTGGCAACAGGGACAGTGACATGGTAGAAGGGTCTTGGGCCCTCCCTGCCCATGCTGGGTTGAGTGCCTCCTCAGGACTACCATGACCGCGCCCCACCCCTACCCTGTTTTTCCGTCAGATCAGTCTGTCCCCCTCTACTGTTTGCTTGTCTTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTTACCCAGGTTGGAGTACAGTGGTGCAGTGGTGCGATGTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATTACAGGCATGCGCCACCAGGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCCGGCTGTTCTTACGAGACCCAGGACAGGGCTTGGATCCCCTGTGTGTCCCTTGTCCATGCCTGCGGTGGGCCTGTAGCTATTTGTAATTGAGTGAGTAACCACCGTCTCACTGTTGTCACGTATTCTGTTTCCCCCGGCCTCCTCCCTCGCCTCCTCCTGGCTCTCTCTAGCCCTTGCCAGCTGCCCACATTCCTGCTGGGTGCTTCCCTGATTTCCCTGCCCCGTCCCCCACCCGCACCTTATCTCCTGCCTGTTTCCTCTGACCCCAGGTCAGTAAGATCAGTTTGGTGGACCTTGCTGGGAGTGAGCGAGCCGACTCCTCAGGGGCCCGGGGCATGCGCCTGAAGGTGAGGGGCCTTCAGAGGGTGGTTTGTTGTGGGGCAGTGTTGTGGGCTGTATGTGGAGGTCTCCAGTCGGAACCTGAGACTCTCACTGGGGAGGTAGGAAGCGGAAGTGGATCACATTGGGAGAAGAGGGTCTCATCCCCACATTCCTCATCCTTTTCCAGGAAGGAGCCAACATCAATAAGTCCCTGACTACACTAGGGAAAGTGATCTCGGCCCTTGCAGATATGGTGAGACCTGGGTGTTGGAAAGAAGGGGCTTGGGAAAGGGGAGTGACCCACCCTAACCTCCTTCCTCCTTTTATCCCCCAGCAATCAAAGAAGCGAAAGTCGGATTTTATCCCCTACAGGGACTCTGTGCTCACCTGGCTGCTCAAGGAAAATTTGGGTGAGGGCCTCTTCCTCTTTCTCTGCCGACCCTGACACATCCCACAAACTCTTTTGATACATCTGACAAATCCCCTTGCTATGCCGAGAATCCCAAATCCCGTTGTCTTACTTCTCCCCCTGACCCTTCAAAGGGAACATCCTTTGAAGATTTCCTGATGCTGAGAACAAGGCCATACCCTCCCGTCAAGCCAAGGGCCTCACTGACCTGGCTACTCATGACCCCTCCCTGATCCCTGATCTCACACCCACTGCTGCACTGCTGACTTCATCCCCCTTCCATGGTTCTGTGACTGTCCTGCAGATATATCTCCCTGACCTCATCCCCTCCCATAACCAGATGTCATGGTTAGCTCCACCCCGCTAGACTCCCCTACCTCAGACCATGACCCTGTAAGACCTCTGCCTGGGCAGTGGGCCCCAGCCCTGTGACCCGGTCTGACTTTGCTTAGCCCCTCCCTCAGCTGAAGCTTTTCCATGCACTCCATTCACAGGGGGGAACTCACGCACAGCC
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Task1_train_23312
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Given a variant located on Chromosome 17 and affecting SLC52A1 (solute carrier family 52 member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not provided
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AAGGCACTACAATCTGTATTTAAATCTAATTGCACACTAGATAATATATGTATGAAAAATTATTTAATCCAGTTTCCTGATTTCATTATATATTTCTTATAAGGTTTTCATTAGGCTTTTGTTTTTGTTTTTGGTTTTAAATAAAAACACTTTATTGCACAAATCCCACAAAGGTCTCAGGCCCTGGGTCCAAGCCCACAGCCCCAACCTGTCCCCTGGCTCTGGGCCTGGTCTTTGGTGCCCACCCTGGCCTCACATGCCAACGTCTTCTGTGGAGTGTGCAGGTGTCCATGAGCGTTCCTGTGTTGGGGGAAGCCTGCCTGGGCCACAAGTAGTCAGGCACTGTGGCAGCCTCACGATGAAGACAGGTGGGGTGGAGTTGGGTCCCCACCTGCCCAGGCTCAGGGGCCACAGGGGTCTACACAGTCCTTTCTGCTTTGAAACACGTGGTAGATGCTGGTGGGAGGGAACATGGCACCGGCACCAAGCAGGGAGCCCACTTGGATGGCCACACCAGCTGCCAGCAATGCCGGCCGACCCCCACCATGCAGCAGGGAGCTTGCAGCCACCTTCACATATGAGAACACACACAGACACAGCACCCACGACAGCACCTGCAAGGGAGGACACAGCAGCAGGCTGAGCATGACATGCACTTGCTCCAGGGGACACCCTCCTCCCCACTTCATGTCTCCACTTGCTCACCACAAGGACCACCCCTGCAGTGGTGCCCACCAGGGGTGGGCAGGGGCTCAGGATTGCCAGTGCCATCAGGTAGGCCCCAAAGAGCATGCCCAGCAGAGAAAGACCAACCAGCCCTGCCAGGGACCTGTTGGGGATGAGCAGAGACTCAGGGCTGGCTGTTCTGGGACCTGGACCCCAACCTTAAGTTCCACCCACCAAGCCTGGGGACCCTTTTGCACCTGCACAGCACGCCCATGGCCAGGAAGCAGGCAAGGGGGTTGGCGGCACTGCCCAGCACCACAGCCAGGTGGTAGGCCAGGCGCCCATAGGGCAAACAGGAAAAGCTCTGCACAGAAGGCAGCACGCCATTGGTCACGGCACTGGTGAAGGCCATCAGGCCCAGCAGGAAGGCACCATGGGCTGAGAACAGCTGATGGGCCTCAGGGTCTGGGCCAGGGATGGTGCCTGCTGCCTGGCTCGGTGGCTCCTGCAATGGCAAAGCCTCTTCTTCCTCCTTCTCTTCCTCCTCTGCTCCTGGGGATCCCAGTTGAAGTTCAGGCCCTGAGCCCCCTGTGGTTACAGAGGGTAGTGATGGCAACAGCAACAGGAGACCCCGGAAGGCGGCAGCTGAAGTGACCAGAAGGGCAGTCAGTGCCCAGAAGAAGGTGCTGGCAGGAAAACGCTCAGGGAAGTCGAGGGGAGGCCCAGAGGTGCCATTGGTGGGCGCTGGTGGGCACTCGAGGCGGCCCACACCTTGCACTAGGGCCAGCACACAGGGGAGTAGGGCACTGAGACCCTGACCCAGGAAGAAAGACCGTAAGAAAGGAGGTGGCAGGTGGCTCAGGAAGGGCAGGAAAGTGACATTAGAGGTACAACAGGCCATTGCCAACACCAAGGCCAGAGTTAGGAAGGCCACAGAGTGGAGCTGCCCTGCCACTGGGGCCACGTGGTGCCACAGAGGGGCCAGCAGGGCTGTGCCCACTACACTCAGCACCTGTACCACCTGGATGGGGACCTGCTCGCCCTTGCCCGGGGCCAGCTGCCTCCACAGGGTCACCACCAGCAGACCCAGGTTTCCCAGCGCCACAACCACAGAGAGGTATGAGGGGAGGCTCCAACCTGCAGGGAAGGAATGATGCCATGTCAGGAGCACAGTGGCTAAGGGACAAAGAGCTGCCACAGGCCACCTTTCTGGGCATACCTGCCCCACGCTTCCCTGTACCTCCCTCCCACTCACCCTCTGGAAGGTCTTTTACCACCACAGGCAGCTCCACCCAGATCCCGTTCACAGCAGCCCAGGAGCCCATGCCAAAAAGGGCCACCAGCAGGTGGGTCAGCACCAGACGGCCCAGCGTGGGTGCTGCCATTCAGCCCAAAGCTGGACCCTCCAGGACAGGGCAAAGGTCACAGGCAGGTCCTTCCCTAGGTAGGTCCAAAGATGCTTTGGTTCTTCTGGAAACTGAAGACCTTCTAGCTGGAGGGAAACAGACAGGCTGGCAGGTAATAGGCTGGTGGGACAGAACCGGAGTCAGAAGACAAGTCGGTCAGACTGCTAAGACCAGGGCAACTGGAGGGAGAGGTGGCCGGGGGCGGGCGGGGAAGGTGGGGAGCCAGGACTTACCACGGGGCACCGGCTGTGCGTTTGGGTACAGCGACCCAGCAGTGCCGGCAGGCAGACAGGCAGAAAGCTGGCCCGAGGTGCAGCTGCCCCAGAGGAGCAAAGAGGGAGCTGATTTTCCTACCCACAGAGGACCCGGGGTCCAAGTTGTCAAAACAGCTCAGCACTGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGAAGGCAGATCGCCTGAGGTCAGGAGATTGAGACCATCCTGGCCAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGATTCACTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCATTCCAGCCTGGGCGACAGAACGAGATTCGGTCTCAAAAACAAAACAAAACAAAACAAAACAAAAAAACAGCTCGGCACCAACACGCTCACCCTCAAATGGACCCCGGGACAAGGGCACGTCTCTGGTGCCACTTGCAACCCTAGCGCTTTTGCGACACTCAGGACTTGCTGAGGCAGGTCGAGTTGGAGAGGGGAGTGGCTGGGGCGGGCTCTGCCCGGAGGGGCGTCTCCGTGCTGCCCTCCCGCCTGCCTCAGGGGGGCATCCCGGGAGCCGCCAGGTGCGCAGGGGTCCCCGCACCTCCGGATCCGGCAGTCCCCGGACCCAGCGGCTGGCGGTCTGCCTGAGAGGGAGCCCCCTCCGCCGGGGAGGCGGCCCAGCCCAGAGCCCACACAGCTGGGGTTTTGTTGTTTGTTGTTTTAATTAATTAATTAATTTTGAGACGGGGTCTCACTCTGTCACCCAGGCTAGAGCGCAGCGGTGCGCGATCGCGGCTCACTACAGCCTCAACCTCCCAAGCTCAAGGGATCCTCCCACTCAGCCTCTCCCCACCCCCCCACAAGTAGCTGGGACCACAGGCGAGCATCACCATGTCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTCACTATGTTGCTCAGGCTGGCTTGGCACTCCTGGGCTCAAGCAATCTTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAGACGCACCACACCTAGCTACCGCCACGCTCAGCTGTTTTTACACTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGAGCCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCACCACCATGCCCTGCTAATTTTTGTCTTTTTAGTGCACAGGGTCTCGCCATGTTAGCTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCCCGGCCTCCCAAAGTGTTGGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGCTGTTTTTACACTTTTAAATGGTTGAAAAAAAATTAGCTGGACGTGGTGTGCACACCTGGCTAATTTTTGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTTCCAGGTTCACGCCATTCTCCTGCCTCAGACTCCCGAGTAGCTGGGATTACAGACGCCTGCCACCACGCCTGGATAATTTTTGTATTTTTCGTAGAGATGGGGTTTCACCATATTGGCCAGGCTCGTCTCGAACTCCTGACCTCAGGTGA
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AAGGCACTACAATCTGTATTTAAATCTAATTGCACACTAGATAATATATGTATGAAAAATTATTTAATCCAGTTTCCTGATTTCATTATATATTTCTTATAAGGTTTTCATTAGGCTTTTGTTTTTGTTTTTGGTTTTAAATAAAAACACTTTATTGCACAAATCCCACAAAGGTCTCAGGCCCTGGGTCCAAGCCCACAGCCCCAACCTGTCCCCTGGCTCTGGGCCTGGTCTTTGGTGCCCACCCTGGCCTCACATGCCAACGTCTTCTGTGGAGTGTGCAGGTGTCCATGAGCGTTCCTGTGTTGGGGGAAGCCTGCCTGGGCCACAAGTAGTCAGGCACTGTGGCAGCCTCACGATGAAGACAGGTGGGGTGGAGTTGGGTCCCCACCTGCCCAGGCTCAGGGGCCACAGGGGTCTACACAGTCCTTTCTGCTTTGAAACACGTGGTAGATGCTGGTGGGAGGGAACATGGCACCGGCACCAAGCAGGGAGCCCACTTGGATGGCCACACCAGCTGCCAGCAATGCCGGCCGACCCCCACCATGCAGCAGGGAGCTTGCAGCCACCTTCACATATGAGAACACACACAGACACAGCACCCACGACAGCACCTGCAAGGGAGGACACAGCAGCAGGCTGAGCATGACATGCACTTGCTCCAGGGGACACCCTCCTCCCCACTTCATGTCTCCACTTGCTCACCACAAGGACCACCCCTGCAGTGGTGCCCACCAGGGGTGGGCAGGGGCTCAGGATTGCCAGTGCCATCAGGTAGGCCCCAAAGAGCATGCCCAGCAGAGAAAGACCAACCAGCCCTGCCAGGGACCTGTTGGGGATGAGCAGAGACTCAGGGCTGGCTGTTCTGGGACCTGGACCCCAACCTTAAGTTCCACCCACCAAGCCTGGGGACCCTTTTGCACCTGCACAGCACGCCCATGGCCAGGAAGCAGGCAAGGGGGTTGGCGGCACTGCCCAGCACCACAGCCAGGTGGTAGGCCAGGCGCCCATAGGGCAAACAGGAAAAGCTCTGCACAGAAGGCAGCACGCCATTGGTCACGGCACTGGTGAAGGCCATCAGGCCCAGCAGGAAGGCACCATGGGCTGAGAACAGCTGATGGGCCTCAGGGTCTGGGCCAGGGATGGTGCCTGCTGCCTGGCTCGGTGGCTCCTGCAATGGCAAAGCCTCTTCTTCCTCCTTCTCTTCCTCCTCTGCTCCTGGGGATCCCAGTTGAAGTTCAGGCCCTGAGCCCCCTGTGGTTACAGAGGGTAGTGATGGCAACAGCAACAGGAGACCCCGGAAGGCGGCAGCTGAAGTGACCAGAAGGGCAGTCAGTGCCCAGAAGAAGGTGCTGGCAGGAAAACGCTCAGGGAAGTCGAGGGGAGGCCCAGAGGTGCCATTGGTGGGCGCTGGTGGGCACTCGAGGCGGCCCACACCTTGCACTAGGGCCAGCACACAGGGGAGTAGGGCACTGAGACCCTGACCCAGGAAGAAAGACCGTAAGAAAGGAGGTGGCAGGTGGCTCAGGAAGGGCAGGAAAGTGACATTAGAGGTACAACAGGCCATTGCCAACACCAAGGCCAGAGTTAGGAAGGCCACAGAGTGGAGCTGCCCTGCCACTGGGGCCACGTGGTGCCACAGAGGGGCCAGCAGGGCTGTGCCCACTACACTCAGCACCTGTACCACCTGGATGGGGACCTGCTCGCCCTTGCCCGGGGCCAGCTGCCTCCACAGGGTCACCACCAGCAGACCCAGGTTTCCCAGCGCCACAACCACAGAGAGGTATGAGGGGAGGCTCCAACCTGCAGGGAAGGAATGATGCCATGTCAGGAGCACAGTGGCTAAGGGACAAAGAGCTGCCACAGGCCACCTTTCTGGGCATACCTGCCCCACGCTTCCCTGTACCTCCCTCCCACTCACCCTCTGGAAGGTCTTTTACCACCACAGGCAGCTCCACCCAGATCCCGTTCACAGCAGCCCAGGAGCCCATGCCAAAAAGGGCCACCAGCAGGTGGGTCAGCACCAGACGGCCCAGCGTGGGTGCTGCTATTCAGCCCAAAGCTGGACCCTCCAGGACAGGGCAAAGGTCACAGGCAGGTCCTTCCCTAGGTAGGTCCAAAGATGCTTTGGTTCTTCTGGAAACTGAAGACCTTCTAGCTGGAGGGAAACAGACAGGCTGGCAGGTAATAGGCTGGTGGGACAGAACCGGAGTCAGAAGACAAGTCGGTCAGACTGCTAAGACCAGGGCAACTGGAGGGAGAGGTGGCCGGGGGCGGGCGGGGAAGGTGGGGAGCCAGGACTTACCACGGGGCACCGGCTGTGCGTTTGGGTACAGCGACCCAGCAGTGCCGGCAGGCAGACAGGCAGAAAGCTGGCCCGAGGTGCAGCTGCCCCAGAGGAGCAAAGAGGGAGCTGATTTTCCTACCCACAGAGGACCCGGGGTCCAAGTTGTCAAAACAGCTCAGCACTGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGAAGGCAGATCGCCTGAGGTCAGGAGATTGAGACCATCCTGGCCAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGATTCACTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCATTCCAGCCTGGGCGACAGAACGAGATTCGGTCTCAAAAACAAAACAAAACAAAACAAAACAAAAAAACAGCTCGGCACCAACACGCTCACCCTCAAATGGACCCCGGGACAAGGGCACGTCTCTGGTGCCACTTGCAACCCTAGCGCTTTTGCGACACTCAGGACTTGCTGAGGCAGGTCGAGTTGGAGAGGGGAGTGGCTGGGGCGGGCTCTGCCCGGAGGGGCGTCTCCGTGCTGCCCTCCCGCCTGCCTCAGGGGGGCATCCCGGGAGCCGCCAGGTGCGCAGGGGTCCCCGCACCTCCGGATCCGGCAGTCCCCGGACCCAGCGGCTGGCGGTCTGCCTGAGAGGGAGCCCCCTCCGCCGGGGAGGCGGCCCAGCCCAGAGCCCACACAGCTGGGGTTTTGTTGTTTGTTGTTTTAATTAATTAATTAATTTTGAGACGGGGTCTCACTCTGTCACCCAGGCTAGAGCGCAGCGGTGCGCGATCGCGGCTCACTACAGCCTCAACCTCCCAAGCTCAAGGGATCCTCCCACTCAGCCTCTCCCCACCCCCCCACAAGTAGCTGGGACCACAGGCGAGCATCACCATGTCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTCACTATGTTGCTCAGGCTGGCTTGGCACTCCTGGGCTCAAGCAATCTTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAGACGCACCACACCTAGCTACCGCCACGCTCAGCTGTTTTTACACTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGAGCCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCACCACCATGCCCTGCTAATTTTTGTCTTTTTAGTGCACAGGGTCTCGCCATGTTAGCTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCCCGGCCTCCCAAAGTGTTGGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGCTGTTTTTACACTTTTAAATGGTTGAAAAAAAATTAGCTGGACGTGGTGTGCACACCTGGCTAATTTTTGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTTCCAGGTTCACGCCATTCTCCTGCCTCAGACTCCCGAGTAGCTGGGATTACAGACGCCTGCCACCACGCCTGGATAATTTTTGTATTTTTCGTAGAGATGGGGTTTCACCATATTGGCCAGGCTCGTCTCGAACTCCTGACCTCAGGTGA
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Task1_train_23313
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Assess the clinical impact of this variant on gene NUP88 (nucleoporin 88), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Fetal akinesia deformation sequence 4
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GACCACAGGTACATGCTACCACAGTGGCTAATTTTTTTTTTTGTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGACATGATCTTGGCTCACTGCAGCCTCCACCTCCCAGGGTCATACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACTACACCCAGCTAATTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTAGTAATTCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCACCTAGCTAATTTTTAAATTTTTTTGTAAAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCACCTGACAAAGTGCTGGGATTATAGGTGTAAGCCACCATGCCCAGCCTACATGGGATTTTATTATGTATTTTCCTTGTTCACTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTGTGCTGCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGTCTGCCACCATGCCTGGCTAATTTTTGTAGTTTTTAGCAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGCACTCCTGACCGTGTGATCCACCCACCTCGATCTCCCAAAATGCTGGGATTATAGGCGTAAGCCACAGTGCCTGGTTTCACTGTTCACTTTTCAAGCTGGTACAGTTTGCTATCCTTCTCATTCCCCACCAAGCGTTTTCCCTGTGGTCCTCTGTATTGCCAAACCTAGATTATGTCTATTTCTTAGTGTATGCTATTTGTCTCATGTCTGTGTATACTCCATGTCTAACAGAGTGCTTATGAGATATCTAGTAATTGATGAACAGAATAAAGGGAGGTATCTAGAATACCTTCCAGGTTTCTACTGGGGATAACTGGGGTGATATGGCACCCTTCAGAAAAATGGGACACAGGAGAGAGAGCAGATTTGGAAAGACAGAAGATGAGTTAAGGGGACATCTGGAGTTTTATGTTCCTATAGGATATCCAAGTGGAGGAGCCCAGTAGGCAGCTGGGTATGTGAATCTGGAGTTCAGAGTGGTCTGGGCTAGGGCGATATGGATGCGGGAACTGTCAGCACTGAAGCCATGATTACGGCAGAAGTTACTCAGGAAAGGACCTAGAAAGAATAGAGAAGACCCAAGGAAAGAGTTGTGAGCATTACTTATAAGCAGTGAGTAGAGGCAGAGGAACCCGCCCAAGAAGGAAACTTGAGAAAAGGGCTGCTGGCGGGACTGAAGGAGAACCTGGAGGGACAGACGTCAAGGATGCCAAGGAGAATGTGTTTCAAAGAGGAGACATGGGCAACCACATCAAATAAACACAGCAATGCAGTGAAGGGCAGACACAGTCTCTGCTCTCATGAAACATATACATTCCGGTAGTGGCGACAGACATTAAAAAAATGCAAATATAAATAGTGTAATATGTGCTACAATGGATAAGAGAATAGGAGAGCCCCAAGTTAGACTGGGGAGTCAAGGGTGTTCTCTGTGAAGAAGTGACATTAAGATCAGAAAGAAGGGTAGGAGTTAGCCAAGAGAAGACAGCAAGCTGGGGCTGGGGCTGGGGCTGGGGAAGGACCTTCCAGTCAGGAAACAGTATGTCGAGTGGCCCTGGAGAGGAGAAAGCTTCTGATGAGCAGGACACTCTTAGGGGAGAAGTATCACGTCTGCAACTTTCAAATGACTCAGCAGTGAATACTGTGGATGTGAGTGTAACGGATACAAACGTATCTGAACTGCTGAAATGAACAATTGTTTTCTGATATACAAGGGAGGGAGAGTCCTTACCTGCAGGGCAATGGCTTCGTACAAAGGATGTGTTCAACAAAGCATTTCTGTTCTGTAGAGAGTTCCTGTAAACTATCCTTATCTTCTTCATCTACCATGGAAGACATTACATAAATGAAATGATGCTTAGACAAGTCTCCAAATTAAAATGCTAATGATATTGGGTTAAATGCAGTGAGGTTCTTGTCTGAAAACATTGCTTCTCAAGTACTATGCTTTTCTGACATAGGCATACGCTTTCCCAGGGGGTCTAGATTTCCGCCCCAAGAAGTAGGATTTTCCTTCGTAATGTCTCTGAATGCAAAAATGTTTCACTAAGAACAGTGAAATCATTCTCTTCTAGGGTGCTGCTTACCCACACTGATTTTATTTTCATAAAGGTTGAGTATCCTTTATCCAAAATGCTTGGGATCAGAAGTGTTTTGGATTTCACATTTTTTTTTTGGATTTTGGAATATGTGCATTATACTTAGTAGTTGAACATCTCTTATCTGAAAATCTAAAATCCTAAATGCTCCAATGAGCATTTCTGTTGTCATGACAGCACTCAAAAACTTTTGTAGCTCACTCAGGTTCAAGGATGGAAAAAAGAAAAGTTTTGGATTTCAAATTTTTCAGAGTAGGGATACTCAATTTATAACAGCTTTATTTTTTTTTGGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGCGCAGTGGCCCAATCTCTGCTCAATGCAACCTCCGGCTTCTGGGTTTAAGTGATTCTCCTGCGTCAGCCTCCTGAGTAGCTGGGACTACAGGTGGACGCCACCACGCCCAGGTTTTAGTAGTAGACAGGGTTTCACGGTATTGGCCAGACTGGTCTCGAACTCCTGAACTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCACGCCTGGCCTGTAACAGCTTTTTGAAACGTAATTCACAGTACCATACAAGTCATCCATTTAAAGTATACCCATTAAAGTATACAATTCAGTAAGTTTTTAGTGTAAGAATTGTATACCTGGCAGGGTGCGGTGGCTCATGCCTGTAATTCCCAGCACTTTCGGAGGCCAAGGTGGGTGGATCACCCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGCGAGACGCCGTCTCTACTAAAAACACAAAAATTAGCTGGACGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGTGAATCGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTAAAAAAAAAATTGTATACCTATCATTAACAATTTGGAATATTTTCATTTCCCCAAAAGAAACCCACATAACCATTAGCAATCACTCCTCAGTTTCTACCAAACTTCCCAGACCTAGGCAACTAATCTACTTTCTGTCTCTGTACATTTGTCTATTCTGGACATCTCATATAAACAGCCATACAGTTGTTTGTAACTGGCTTCTTTCACTTAGCATCTGTTCACAGTTCATCCATATTGGAGCATGTATCAGTACTTCATTCCTTTTCATTGTTGAATAATACTCTGTTGTATAGACACACCACATTTTATCTATCCATTCATCAGCTTATGGACACTTGGGTATGTGGCTTCTGGGCTATGATGAATAATGCTGCTGTGAACACTCATGTACCAGTATTTGTGTGGATACAGGTCTTCATTTCTCTTGGAAATATACTCAGGACTGGACTATCAGGTACATGGTAACTCTATGAATAATCATTTGAGGAACTGCCAGATTGTTTTCCAAAGACTGTACCATTTTACATTTCTATAAGCACTGTATAAAAGTCCCCATTTTTTCCCACATCCTCAACACTTGTTAATGTCCATCTTTTTCATTTTAGCTATACTAGTGGATATGACGTGATACCTCATTGTGGTTTTGTGGTATCTTATTTCCATAATGACTAATAATGTTGTACATCTTTTTATATATATGCTATTTGCCCAACTGTATCAAATGCTAAGGGTTCTTTATATTGTTCTCCATACGAGTCCATTATCACACAAATATTTTCTCTCATTTTGTGGGCTGTTTTCCCTTTTGT
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GACCACAGGTACATGCTACCACAGTGGCTAATTTTTTTTTTTGTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGACATGATCTTGGCTCACTGCAGCCTCCACCTCCCAGGGTCATACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACTACACCCAGCTAATTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTAGTAATTCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCACCTAGCTAATTTTTAAATTTTTTTGTAAAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCACCTGACAAAGTGCTGGGATTATAGGTGTAAGCCACCATGCCCAGCCTACATGGGATTTTATTATGTATTTTCCTTGTTCACTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTGTGCTGCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGTCTGCCACCATGCCTGGCTAATTTTTGTAGTTTTTAGCAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGCACTCCTGACCGTGTGATCCACCCACCTCGATCTCCCAAAATGCTGGGATTATAGGCGTAAGCCACAGTGCCTGGTTTCACTGTTCACTTTTCAAGCTGGTACAGTTTGCTATCCTTCTCATTCCCCACCAAGCGTTTTCCCTGTGGTCCTCTGTATTGCCAAACCTAGATTATGTCTATTTCTTAGTGTATGCTATTTGTCTCATGTCTGTGTATACTCCATGTCTAACAGAGTGCTTATGAGATATCTAGTAATTGATGAACAGAATAAAGGGAGGTATCTAGAATACCTTCCAGGTTTCTACTGGGGATAACTGGGGTGATATGGCACCCTTCAGAAAAATGGGACACAGGAGAGAGAGCAGATTTGGAAAGACAGAAGATGAGTTAAGGGGACATCTGGAGTTTTATGTTCCTATAGGATATCCAAGTGGAGGAGCCCAGTAGGCAGCTGGGTATGTGAATCTGGAGTTCAGAGTGGTCTGGGCTAGGGCGATATGGATGCGGGAACTGTCAGCACTGAAGCCATGATTACGGCAGAAGTTACTCAGGAAAGGACCTAGAAAGAATAGAGAAGACCCAAGGAAAGAGTTGTGAGCATTACTTATAAGCAGTGAGTAGAGGCAGAGGAACCCGCCCAAGAAGGAAACTTGAGAAAAGGGCTGCTGGCGGGACTGAAGGAGAACCTGGAGGGACAGACGTCAAGGATGCCAAGGAGAATGTGTTTCAAAGAGGAGACATGGGCAACCACATCAAATAAACACAGCAATGCAGTGAAGGGCAGACACAGTCTCTGCTCTCATGAAACATATACATTCCGGTAGTGGCGACAGACATTAAAAAAATGCAAATATAAATAGTGTAATATGTGCTACAATGGATAAGAGAATAGGAGAGCCCCAAGTTAGACTGGGGAGTCAAGGGTGTTCTCTGTGAAGAAGTGACATTAAGATCAGAAAGAAGGGTAGGAGTTAGCCAAGAGAAGACAGCAAGCTGGGGCTGGGGCTGGGGCTGGGGAAGGACCTTCCAGTCAGGAAACAGTATGTCGAGTGGCCCTGGAGAGGAGAAAGCTTCTGATGAGCAGGACACTCTTAGGGGAGAAGTATCACGTCTGCAACTTTCAAATGACTCAGCAGTGAATACTGTGGATGTGAGTGTAACGGATACAAACGTATCTGAACTGCTGAAATGAACAATTGTTTTCTGATATACAAGGGAGGGAGAGTCCTTACCTGCAGGGCAATGGCTTCGTACAAAGGATGTGTTCAACAAAGCATTTCTGTTCTGTAGAGAGTTCCTGTAAACTATCCTTATATTCTTCATCTACCATGGAAGACATTACATAAATGAAATGATGCTTAGACAAGTCTCCAAATTAAAATGCTAATGATATTGGGTTAAATGCAGTGAGGTTCTTGTCTGAAAACATTGCTTCTCAAGTACTATGCTTTTCTGACATAGGCATACGCTTTCCCAGGGGGTCTAGATTTCCGCCCCAAGAAGTAGGATTTTCCTTCGTAATGTCTCTGAATGCAAAAATGTTTCACTAAGAACAGTGAAATCATTCTCTTCTAGGGTGCTGCTTACCCACACTGATTTTATTTTCATAAAGGTTGAGTATCCTTTATCCAAAATGCTTGGGATCAGAAGTGTTTTGGATTTCACATTTTTTTTTTGGATTTTGGAATATGTGCATTATACTTAGTAGTTGAACATCTCTTATCTGAAAATCTAAAATCCTAAATGCTCCAATGAGCATTTCTGTTGTCATGACAGCACTCAAAAACTTTTGTAGCTCACTCAGGTTCAAGGATGGAAAAAAGAAAAGTTTTGGATTTCAAATTTTTCAGAGTAGGGATACTCAATTTATAACAGCTTTATTTTTTTTTGGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGCGCAGTGGCCCAATCTCTGCTCAATGCAACCTCCGGCTTCTGGGTTTAAGTGATTCTCCTGCGTCAGCCTCCTGAGTAGCTGGGACTACAGGTGGACGCCACCACGCCCAGGTTTTAGTAGTAGACAGGGTTTCACGGTATTGGCCAGACTGGTCTCGAACTCCTGAACTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCACGCCTGGCCTGTAACAGCTTTTTGAAACGTAATTCACAGTACCATACAAGTCATCCATTTAAAGTATACCCATTAAAGTATACAATTCAGTAAGTTTTTAGTGTAAGAATTGTATACCTGGCAGGGTGCGGTGGCTCATGCCTGTAATTCCCAGCACTTTCGGAGGCCAAGGTGGGTGGATCACCCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGCGAGACGCCGTCTCTACTAAAAACACAAAAATTAGCTGGACGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGTGAATCGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTAAAAAAAAAATTGTATACCTATCATTAACAATTTGGAATATTTTCATTTCCCCAAAAGAAACCCACATAACCATTAGCAATCACTCCTCAGTTTCTACCAAACTTCCCAGACCTAGGCAACTAATCTACTTTCTGTCTCTGTACATTTGTCTATTCTGGACATCTCATATAAACAGCCATACAGTTGTTTGTAACTGGCTTCTTTCACTTAGCATCTGTTCACAGTTCATCCATATTGGAGCATGTATCAGTACTTCATTCCTTTTCATTGTTGAATAATACTCTGTTGTATAGACACACCACATTTTATCTATCCATTCATCAGCTTATGGACACTTGGGTATGTGGCTTCTGGGCTATGATGAATAATGCTGCTGTGAACACTCATGTACCAGTATTTGTGTGGATACAGGTCTTCATTTCTCTTGGAAATATACTCAGGACTGGACTATCAGGTACATGGTAACTCTATGAATAATCATTTGAGGAACTGCCAGATTGTTTTCCAAAGACTGTACCATTTTACATTTCTATAAGCACTGTATAAAAGTCCCCATTTTTTCCCACATCCTCAACACTTGTTAATGTCCATCTTTTTCATTTTAGCTATACTAGTGGATATGACGTGATACCTCATTGTGGTTTTGTGGTATCTTATTTCCATAATGACTAATAATGTTGTACATCTTTTTATATATATGCTATTTGCCCAACTGTATCAAATGCTAAGGGTTCTTTATATTGTTCTCCATACGAGTCCATTATCACACAAATATTTTCTCTCATTTTGTGGGCTGTTTTCCCTTTTGT
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Task1_train_23314
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Mutation context: Chromosome 17, Gene C1QBP (complement C1q binding protein). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Combined oxidative phosphorylation deficiency 33
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AATTGTTATGGACCCCAGTTATCCACTCACCTAACCGTCAGTGCCCTGTGGCTCAGAGCAGCAGTGAAGCTAAGTAGGAGGTGAGGTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGCTCGCACCTGTACTCCCAGCTACTCGGAAGGCTGAAGTGGGAGGATGGCTTGAGCTCAGGAGGCAGAGGTTGCAGTGAGCTGAGAGGGCGCCATTGCGCTCCAGGCTGGGTGACAGCGAGATTGTGCCTTAAAAAAAAAAAAAAAAGAGGAGGGGGAAAGACAAAATTGTATTCTGTAGGTCTTGAGTTCAACATTTGGAAAGGTAGACATTTGGAATGCTCTAGTTCCACTAGACCTTTGGTTTTCACTTAAGGGGGAATCAAGGACCATTGTGTTAGAATCCAGTGAGGTCAGGACGTAGGGACGCTCAGGACAGATGGCTGAGGATGTGTTGAAAGATAGGGGTGGGTTACAGAAGATTGCACTCTATCACAAGACGAGGAATGTTTCGGATGTGGCGGTGCTCAAGTGGTGGTCCTGGGATGGAATATGCCAAACCGCCTATTAGCAGAGTTACAGTGTCTTTTAGAGAAAGCCAAACATATTACCTGTGGAAGTGGTAAGAAACAAGAGTAACCCACTTATGCCTACTGTTTAATTATTGGAACGCTAAGCCTGTGGGAGTTATTGATCCCCTACTGCTCAAGGTCATCGCCAAGGTCTGATTTTTCACACAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAAGGACAGACTGGATTCCTTAGCATAGTGGAGAGGCTGAGCCACCCAGGAGTCGGGAGGCAGTTTTACACTCAGGTGCTTACTGATCATGTCTTTACATGTTTTCTGCCCGTACTGATCATGCATGGTTTGCACCTCCCCTATGATACATACCTGCTTCAATCTTGTGTAGATTTGGAGTCTCATCTTCCTGCTGGGCTCTAAAAGCTCCAGGCTATCAAGAGTTTGAATACAATCTTTCTGGTCAGTGGTTTCCTGATGGTGAGGATGTTTGATTAGTTCATCTACAGGATTTGATCTTAGCTTGAAGACTATTGATGCTGATGGTTCCCAGGGCAGTTGTTTGAAGGCTGCAGGACAGAGGTCCAGCAATGCCAAAGAGGGGCGGTCATCATGACAAACTACACTACTGAACTAATTGAAACTGGACTCAGGAGACCTCATCTAATGTGTAGAATTCTCATTGATTACAACTTTTATCAGATATCTTTCATGACTAGAATACAATTTAAGCTAATTATTTTCCTGTTTAAACCTAGGCCTGTGATACTTGGGCTGTGATCCTCTAGAGCCAGCTTGGACTCACATCATTCTATGGGGTTGAAGACAACTCATTCCCTCTGAGGAGCCTTGTACATACAAGCCTTTTATTTATAACTTATTTTGTATTGAAACTTTTAAACAATACTGAAGAAAAAAAAACTTTTCCGACATCTGTTCTTGGTCTTTTGTGACGCAGGTTGAAGGGGGAGGAATAGAAAAAGACAAACTGCCTTGGAGGAGATAAACCAATTTTATGTCTATCATGTTATACAAAAATCTAGAAATAATAGATTTGTACAGAAAAAAATGATAATAAATGAGAACACAAAACATATAATTTAAATTTGGTATTTTTTCCCCCATGATATTAGGATGATAATCATTTCAAAGCACATGTCTAGCTTCAGAGTAGGATTTGTTCACTGGCCAAAGCCTGCCATGAAACTATGGCTTTCAGCATCTGTCTGCTCTACTGGCTCTTGACAAAACTCTTGAGGTCTTCAAGAAAAGTAATGTACTCCTGGTGCTCCAGGGCTGTGCTGAGCTCCACCAGCTCATCTGCAAAAGTGTTGTCCACCCCTCGGTCGGCAAGGAAATCCATTAGGTGGTCATATAAGGCCTGCAAAGAACAATATTTACTAGTTAAAAAAAAATCTGTAATGAACATTAAAATGCTTTTTTCTCCCCTTGAACTAGGACCCTTCCTTCCAAGGCCCAAAAGGTTCCCCCACCTTATCAAGCACTCACCCAGTCCAAGGAATCTGTGTTGAGTGTATAATTAGTATCCTTCCATTCAGACTCGCCAGTGGACTGAAAGCTAACTTCCCTGATAGAGAAGATGTCACTCTCAGCCTCGTCTTCTTGTCCAACCTGAGAAGAAACAATATTGGGAAACTGAAGGGTTCTCCAGGACAAGCTAGACTCAGGGGAAGAAAGGGGGCCACTGACAGCATGAAACTCATCAGGTTTTAACCCTCTTCCCTCACTCCCCACCTCTCTCCCCCTGCTGGGCTGGTCTAAGCTAGAAAAGTGTTTAAATTTCTGCTAAAATAGGGACAGGAAGTTCCCAAGGGACACACTGTTCCCCAGGGGTGCCAAGAGGCTAGCACTCCATCCTGCATACCTCATCCTCTGGATAATGACAGTCCAACACAAGGGCCTTCTTGCCATCATCATTCTTTATAACTTCAACCACGAAATTGGGAGTTGATGTCAGTTCAGGCTGGGGAAACAAGAAGTCAATACATGCTGCTGCTGGAAGGAGATGGATGGCTGGATCAAGGATCTCTGTTCAGAGTGTCTGATGGCCACCACTATTAGGATATTATGTAGCCATTTGAATAGTCTTATGCCATACTATTCCCAAATGAAGAGCTTGATCTCACTTCTGTTGGCACCCTGCTTGGTTAAATAACACACTGGGTTTTCAGTTAAGAAATGTGGATACCAGCCTCAGCTATGTGCCAATTAACTGAGTTTATATCAGTCCCTTAACATTCCAAGCCTTTTCCTCCACCCGTACACTGCAAAGCTTTCCTAAAGTTTCAAGATCTCTTTCCAGCTTGACTGTTCCAGGAGTCTTCATAAGGGACCAGGGTCAAAGGCTGGGGAACCTGGCCATCCTTATGGCTGAATAACAGCAGCAGCTTTTCCTCTGATGCGGAGCTCTGGGAGCAGACTGGGTCCAACGTCAGGGAGATGCTAGTTGGGGTGGCTGGGAAAGCAGCACACCAGAGAGCTGCGCCGTCCACACCAGGTCATGACCCAACACTGTACTGATGGCTCTTGGGCAGAATGTCTAGGGACTCTGTGGCCCTCATACTGGCTGGTTACTAGGCTGGGCACAGCACTTCCTGAAATGTTTGAAGAGTAGGCATGATCCAGTTAAAGTCTCTTATGCCCCTGCCATTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGGACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATGCGACTGGACTTAGAGGAATTTTTTTTTTTTGAAAGACCAAAGAAAAACGCTCCTCCTCTAAGCCCCAGGCACAGCCTGTCAGAACTGAGGTAAAAGCTGATTATAGTATTAGCTTACCTCCTGTTCTTCAACCTTCTGCCCTTGCGAGGGTTCCTCCTCACCATCAAATGTTGGTGGGATGCTGTTGTTAATGTTGAAAGTGACCGTGATTCTAAAACGGCAAGGGAAAACAGACAAGGCAAAACAGACAAGGCATGGTTTTAACCGAGCAGGTTAACACATAAACATGGAAATCTGCTACAGTTAAAAAGGCGTATTGAAACAATGTCTCT
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AATTGTTATGGACCCCAGTTATCCACTCACCTAACCGTCAGTGCCCTGTGGCTCAGAGCAGCAGTGAAGCTAAGTAGGAGGTGAGGTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGCTCGCACCTGTACTCCCAGCTACTCGGAAGGCTGAAGTGGGAGGATGGCTTGAGCTCAGGAGGCAGAGGTTGCAGTGAGCTGAGAGGGCGCCATTGCGCTCCAGGCTGGGTGACAGCGAGATTGTGCCTTAAAAAAAAAAAAAAAAGAGGAGGGGGAAAGACAAAATTGTATTCTGTAGGTCTTGAGTTCAACATTTGGAAAGGTAGACATTTGGAATGCTCTAGTTCCACTAGACCTTTGGTTTTCACTTAAGGGGGAATCAAGGACCATTGTGTTAGAATCCAGTGAGGTCAGGACGTAGGGACGCTCAGGACAGATGGCTGAGGATGTGTTGAAAGATAGGGGTGGGTTACAGAAGATTGCACTCTATCACAAGACGAGGAATGTTTCGGATGTGGCGGTGCTCAAGTGGTGGTCCTGGGATGGAATATGCCAAACCGCCTATTAGCAGAGTTACAGTGTCTTTTAGAGAAAGCCAAACATATTACCTGTGGAAGTGGTAAGAAACAAGAGTAACCCACTTATGCCTACTGTTTAATTATTGGAACGCTAAGCCTGTGGGAGTTATTGATCCCCTACTGCTCAAGGTCATCGCCAAGGTCTGATTTTTCACACAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAAGGACAGACTGGATTCCTTAGCATAGTGGAGAGGCTGAGCCACCCAGGAGTCGGGAGGCAGTTTTACACTCAGGTGCTTACTGATCATGTCTTTACATGTTTTCTGCCCGTACTGATCATGCATGGTTTGCACCTCCCCTATGATACATACCTGCTTCAATCTTGTGTAGATTTGGAGTCTCATCTTCCTGCTGGGCTCTAAAAGCTCCAGGCTATCAAGAGTTTGAATACAATCTTTCTGGTCAGTGGTTTCCTGATGGTGAGGATGTTTGATTAGTTCATCTACAGGATTTGATCTTAGCTTGAAGACTATTGATGCTGATGGTTCCCAGGGCAGTTGTTTGAAGGCTGCAGGACAGAGGTCCAGCAATGCCAAAGAGGGGCGGTCATCATGACAAACTACACTACTGAACTAATTGAAACTGGACTCAGGAGACCTCATCTAATGTGTAGAATTCTCATTGATTACAACTTTTATCAGATATCTTTCATGACTAGAATACAATTTAAGCTAATTATTTTCCTGTTTAAACCTAGGCCTGTGATACTTGGGCTGTGATCCTCTAGAGCCAGCTTGGACTCACATCATTCTATGGGGTTGAAGACAACTCATTCCCTCTGAGGAGCCTTGTACATACAAGCCTTTTATTTATAACTTATTTTGTATTGAAACTTTTAAACAATACTGAAGAAAAAAAAACTTTTCCGACATCTGTTCTTGGTCTTTTGTGACGCAGGTTGAAGGGGGAGGAATAGAAAAAGACAAACTGCCTTGGAGGAGATAAACCAATTTTATGTCTATCATGTTATACAAAAATCTAGAAATAATAGATTTGTACAGAAAAAAATGATAATAAATGAGAACACAAAACATATAATTTAAATTTGGTATTTTTTCCCCCATGATATTAGGATGATAATCATTTCAAAGCACATGTCTAGCTTCAGAGTAGGATTTGTTCACTGGCCAAAGCCTGCCATGAAACTATGGCTTTCAGCATCTGTCTGCTCTACTGGCTCTTGACAAAACTCTTGGGGTCTTCAAGAAAAGTAATGTACTCCTGGTGCTCCAGGGCTGTGCTGAGCTCCACCAGCTCATCTGCAAAAGTGTTGTCCACCCCTCGGTCGGCAAGGAAATCCATTAGGTGGTCATATAAGGCCTGCAAAGAACAATATTTACTAGTTAAAAAAAAATCTGTAATGAACATTAAAATGCTTTTTTCTCCCCTTGAACTAGGACCCTTCCTTCCAAGGCCCAAAAGGTTCCCCCACCTTATCAAGCACTCACCCAGTCCAAGGAATCTGTGTTGAGTGTATAATTAGTATCCTTCCATTCAGACTCGCCAGTGGACTGAAAGCTAACTTCCCTGATAGAGAAGATGTCACTCTCAGCCTCGTCTTCTTGTCCAACCTGAGAAGAAACAATATTGGGAAACTGAAGGGTTCTCCAGGACAAGCTAGACTCAGGGGAAGAAAGGGGGCCACTGACAGCATGAAACTCATCAGGTTTTAACCCTCTTCCCTCACTCCCCACCTCTCTCCCCCTGCTGGGCTGGTCTAAGCTAGAAAAGTGTTTAAATTTCTGCTAAAATAGGGACAGGAAGTTCCCAAGGGACACACTGTTCCCCAGGGGTGCCAAGAGGCTAGCACTCCATCCTGCATACCTCATCCTCTGGATAATGACAGTCCAACACAAGGGCCTTCTTGCCATCATCATTCTTTATAACTTCAACCACGAAATTGGGAGTTGATGTCAGTTCAGGCTGGGGAAACAAGAAGTCAATACATGCTGCTGCTGGAAGGAGATGGATGGCTGGATCAAGGATCTCTGTTCAGAGTGTCTGATGGCCACCACTATTAGGATATTATGTAGCCATTTGAATAGTCTTATGCCATACTATTCCCAAATGAAGAGCTTGATCTCACTTCTGTTGGCACCCTGCTTGGTTAAATAACACACTGGGTTTTCAGTTAAGAAATGTGGATACCAGCCTCAGCTATGTGCCAATTAACTGAGTTTATATCAGTCCCTTAACATTCCAAGCCTTTTCCTCCACCCGTACACTGCAAAGCTTTCCTAAAGTTTCAAGATCTCTTTCCAGCTTGACTGTTCCAGGAGTCTTCATAAGGGACCAGGGTCAAAGGCTGGGGAACCTGGCCATCCTTATGGCTGAATAACAGCAGCAGCTTTTCCTCTGATGCGGAGCTCTGGGAGCAGACTGGGTCCAACGTCAGGGAGATGCTAGTTGGGGTGGCTGGGAAAGCAGCACACCAGAGAGCTGCGCCGTCCACACCAGGTCATGACCCAACACTGTACTGATGGCTCTTGGGCAGAATGTCTAGGGACTCTGTGGCCCTCATACTGGCTGGTTACTAGGCTGGGCACAGCACTTCCTGAAATGTTTGAAGAGTAGGCATGATCCAGTTAAAGTCTCTTATGCCCCTGCCATTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGGACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATGCGACTGGACTTAGAGGAATTTTTTTTTTTTGAAAGACCAAAGAAAAACGCTCCTCCTCTAAGCCCCAGGCACAGCCTGTCAGAACTGAGGTAAAAGCTGATTATAGTATTAGCTTACCTCCTGTTCTTCAACCTTCTGCCCTTGCGAGGGTTCCTCCTCACCATCAAATGTTGGTGGGATGCTGTTGTTAATGTTGAAAGTGACCGTGATTCTAAAACGGCAAGGGAAAACAGACAAGGCAAAACAGACAAGGCATGGTTTTAACCGAGCAGGTTAACACATAAACATGGAAATCTGCTACAGTTAAAAAGGCGTATTGAAACAATGTCTCT
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Task1_train_23315
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This variant impacts the gene C1QBP (complement C1q binding protein) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Combined oxidative phosphorylation deficiency 33
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ATTGTTATGGACCCCAGTTATCCACTCACCTAACCGTCAGTGCCCTGTGGCTCAGAGCAGCAGTGAAGCTAAGTAGGAGGTGAGGTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGCTCGCACCTGTACTCCCAGCTACTCGGAAGGCTGAAGTGGGAGGATGGCTTGAGCTCAGGAGGCAGAGGTTGCAGTGAGCTGAGAGGGCGCCATTGCGCTCCAGGCTGGGTGACAGCGAGATTGTGCCTTAAAAAAAAAAAAAAAAGAGGAGGGGGAAAGACAAAATTGTATTCTGTAGGTCTTGAGTTCAACATTTGGAAAGGTAGACATTTGGAATGCTCTAGTTCCACTAGACCTTTGGTTTTCACTTAAGGGGGAATCAAGGACCATTGTGTTAGAATCCAGTGAGGTCAGGACGTAGGGACGCTCAGGACAGATGGCTGAGGATGTGTTGAAAGATAGGGGTGGGTTACAGAAGATTGCACTCTATCACAAGACGAGGAATGTTTCGGATGTGGCGGTGCTCAAGTGGTGGTCCTGGGATGGAATATGCCAAACCGCCTATTAGCAGAGTTACAGTGTCTTTTAGAGAAAGCCAAACATATTACCTGTGGAAGTGGTAAGAAACAAGAGTAACCCACTTATGCCTACTGTTTAATTATTGGAACGCTAAGCCTGTGGGAGTTATTGATCCCCTACTGCTCAAGGTCATCGCCAAGGTCTGATTTTTCACACAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAAGGACAGACTGGATTCCTTAGCATAGTGGAGAGGCTGAGCCACCCAGGAGTCGGGAGGCAGTTTTACACTCAGGTGCTTACTGATCATGTCTTTACATGTTTTCTGCCCGTACTGATCATGCATGGTTTGCACCTCCCCTATGATACATACCTGCTTCAATCTTGTGTAGATTTGGAGTCTCATCTTCCTGCTGGGCTCTAAAAGCTCCAGGCTATCAAGAGTTTGAATACAATCTTTCTGGTCAGTGGTTTCCTGATGGTGAGGATGTTTGATTAGTTCATCTACAGGATTTGATCTTAGCTTGAAGACTATTGATGCTGATGGTTCCCAGGGCAGTTGTTTGAAGGCTGCAGGACAGAGGTCCAGCAATGCCAAAGAGGGGCGGTCATCATGACAAACTACACTACTGAACTAATTGAAACTGGACTCAGGAGACCTCATCTAATGTGTAGAATTCTCATTGATTACAACTTTTATCAGATATCTTTCATGACTAGAATACAATTTAAGCTAATTATTTTCCTGTTTAAACCTAGGCCTGTGATACTTGGGCTGTGATCCTCTAGAGCCAGCTTGGACTCACATCATTCTATGGGGTTGAAGACAACTCATTCCCTCTGAGGAGCCTTGTACATACAAGCCTTTTATTTATAACTTATTTTGTATTGAAACTTTTAAACAATACTGAAGAAAAAAAAACTTTTCCGACATCTGTTCTTGGTCTTTTGTGACGCAGGTTGAAGGGGGAGGAATAGAAAAAGACAAACTGCCTTGGAGGAGATAAACCAATTTTATGTCTATCATGTTATACAAAAATCTAGAAATAATAGATTTGTACAGAAAAAAATGATAATAAATGAGAACACAAAACATATAATTTAAATTTGGTATTTTTTCCCCCATGATATTAGGATGATAATCATTTCAAAGCACATGTCTAGCTTCAGAGTAGGATTTGTTCACTGGCCAAAGCCTGCCATGAAACTATGGCTTTCAGCATCTGTCTGCTCTACTGGCTCTTGACAAAACTCTTGAGGTCTTCAAGAAAAGTAATGTACTCCTGGTGCTCCAGGGCTGTGCTGAGCTCCACCAGCTCATCTGCAAAAGTGTTGTCCACCCCTCGGTCGGCAAGGAAATCCATTAGGTGGTCATATAAGGCCTGCAAAGAACAATATTTACTAGTTAAAAAAAAATCTGTAATGAACATTAAAATGCTTTTTTCTCCCCTTGAACTAGGACCCTTCCTTCCAAGGCCCAAAAGGTTCCCCCACCTTATCAAGCACTCACCCAGTCCAAGGAATCTGTGTTGAGTGTATAATTAGTATCCTTCCATTCAGACTCGCCAGTGGACTGAAAGCTAACTTCCCTGATAGAGAAGATGTCACTCTCAGCCTCGTCTTCTTGTCCAACCTGAGAAGAAACAATATTGGGAAACTGAAGGGTTCTCCAGGACAAGCTAGACTCAGGGGAAGAAAGGGGGCCACTGACAGCATGAAACTCATCAGGTTTTAACCCTCTTCCCTCACTCCCCACCTCTCTCCCCCTGCTGGGCTGGTCTAAGCTAGAAAAGTGTTTAAATTTCTGCTAAAATAGGGACAGGAAGTTCCCAAGGGACACACTGTTCCCCAGGGGTGCCAAGAGGCTAGCACTCCATCCTGCATACCTCATCCTCTGGATAATGACAGTCCAACACAAGGGCCTTCTTGCCATCATCATTCTTTATAACTTCAACCACGAAATTGGGAGTTGATGTCAGTTCAGGCTGGGGAAACAAGAAGTCAATACATGCTGCTGCTGGAAGGAGATGGATGGCTGGATCAAGGATCTCTGTTCAGAGTGTCTGATGGCCACCACTATTAGGATATTATGTAGCCATTTGAATAGTCTTATGCCATACTATTCCCAAATGAAGAGCTTGATCTCACTTCTGTTGGCACCCTGCTTGGTTAAATAACACACTGGGTTTTCAGTTAAGAAATGTGGATACCAGCCTCAGCTATGTGCCAATTAACTGAGTTTATATCAGTCCCTTAACATTCCAAGCCTTTTCCTCCACCCGTACACTGCAAAGCTTTCCTAAAGTTTCAAGATCTCTTTCCAGCTTGACTGTTCCAGGAGTCTTCATAAGGGACCAGGGTCAAAGGCTGGGGAACCTGGCCATCCTTATGGCTGAATAACAGCAGCAGCTTTTCCTCTGATGCGGAGCTCTGGGAGCAGACTGGGTCCAACGTCAGGGAGATGCTAGTTGGGGTGGCTGGGAAAGCAGCACACCAGAGAGCTGCGCCGTCCACACCAGGTCATGACCCAACACTGTACTGATGGCTCTTGGGCAGAATGTCTAGGGACTCTGTGGCCCTCATACTGGCTGGTTACTAGGCTGGGCACAGCACTTCCTGAAATGTTTGAAGAGTAGGCATGATCCAGTTAAAGTCTCTTATGCCCCTGCCATTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGGACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATGCGACTGGACTTAGAGGAATTTTTTTTTTTTGAAAGACCAAAGAAAAACGCTCCTCCTCTAAGCCCCAGGCACAGCCTGTCAGAACTGAGGTAAAAGCTGATTATAGTATTAGCTTACCTCCTGTTCTTCAACCTTCTGCCCTTGCGAGGGTTCCTCCTCACCATCAAATGTTGGTGGGATGCTGTTGTTAATGTTGAAAGTGACCGTGATTCTAAAACGGCAAGGGAAAACAGACAAGGCAAAACAGACAAGGCATGGTTTTAACCGAGCAGGTTAACACATAAACATGGAAATCTGCTACAGTTAAAAAGGCGTATTGAAACAATGTCTCTG
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ATTGTTATGGACCCCAGTTATCCACTCACCTAACCGTCAGTGCCCTGTGGCTCAGAGCAGCAGTGAAGCTAAGTAGGAGGTGAGGTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGCTCGCACCTGTACTCCCAGCTACTCGGAAGGCTGAAGTGGGAGGATGGCTTGAGCTCAGGAGGCAGAGGTTGCAGTGAGCTGAGAGGGCGCCATTGCGCTCCAGGCTGGGTGACAGCGAGATTGTGCCTTAAAAAAAAAAAAAAAAGAGGAGGGGGAAAGACAAAATTGTATTCTGTAGGTCTTGAGTTCAACATTTGGAAAGGTAGACATTTGGAATGCTCTAGTTCCACTAGACCTTTGGTTTTCACTTAAGGGGGAATCAAGGACCATTGTGTTAGAATCCAGTGAGGTCAGGACGTAGGGACGCTCAGGACAGATGGCTGAGGATGTGTTGAAAGATAGGGGTGGGTTACAGAAGATTGCACTCTATCACAAGACGAGGAATGTTTCGGATGTGGCGGTGCTCAAGTGGTGGTCCTGGGATGGAATATGCCAAACCGCCTATTAGCAGAGTTACAGTGTCTTTTAGAGAAAGCCAAACATATTACCTGTGGAAGTGGTAAGAAACAAGAGTAACCCACTTATGCCTACTGTTTAATTATTGGAACGCTAAGCCTGTGGGAGTTATTGATCCCCTACTGCTCAAGGTCATCGCCAAGGTCTGATTTTTCACACAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAAGGACAGACTGGATTCCTTAGCATAGTGGAGAGGCTGAGCCACCCAGGAGTCGGGAGGCAGTTTTACACTCAGGTGCTTACTGATCATGTCTTTACATGTTTTCTGCCCGTACTGATCATGCATGGTTTGCACCTCCCCTATGATACATACCTGCTTCAATCTTGTGTAGATTTGGAGTCTCATCTTCCTGCTGGGCTCTAAAAGCTCCAGGCTATCAAGAGTTTGAATACAATCTTTCTGGTCAGTGGTTTCCTGATGGTGAGGATGTTTGATTAGTTCATCTACAGGATTTGATCTTAGCTTGAAGACTATTGATGCTGATGGTTCCCAGGGCAGTTGTTTGAAGGCTGCAGGACAGAGGTCCAGCAATGCCAAAGAGGGGCGGTCATCATGACAAACTACACTACTGAACTAATTGAAACTGGACTCAGGAGACCTCATCTAATGTGTAGAATTCTCATTGATTACAACTTTTATCAGATATCTTTCATGACTAGAATACAATTTAAGCTAATTATTTTCCTGTTTAAACCTAGGCCTGTGATACTTGGGCTGTGATCCTCTAGAGCCAGCTTGGACTCACATCATTCTATGGGGTTGAAGACAACTCATTCCCTCTGAGGAGCCTTGTACATACAAGCCTTTTATTTATAACTTATTTTGTATTGAAACTTTTAAACAATACTGAAGAAAAAAAAACTTTTCCGACATCTGTTCTTGGTCTTTTGTGACGCAGGTTGAAGGGGGAGGAATAGAAAAAGACAAACTGCCTTGGAGGAGATAAACCAATTTTATGTCTATCATGTTATACAAAAATCTAGAAATAATAGATTTGTACAGAAAAAAATGATAATAAATGAGAACACAAAACATATAATTTAAATTTGGTATTTTTTCCCCCATGATATTAGGATGATAATCATTTCAAAGCACATGTCTAGCTTCAGAGTAGGATTTGTTCACTGGCCAAAGCCTGCCATGAAACTATGGCTTTCAGCATCTGTCTGCTCTACTGGCTCTTGACAAAACTCTTGAAGTCTTCAAGAAAAGTAATGTACTCCTGGTGCTCCAGGGCTGTGCTGAGCTCCACCAGCTCATCTGCAAAAGTGTTGTCCACCCCTCGGTCGGCAAGGAAATCCATTAGGTGGTCATATAAGGCCTGCAAAGAACAATATTTACTAGTTAAAAAAAAATCTGTAATGAACATTAAAATGCTTTTTTCTCCCCTTGAACTAGGACCCTTCCTTCCAAGGCCCAAAAGGTTCCCCCACCTTATCAAGCACTCACCCAGTCCAAGGAATCTGTGTTGAGTGTATAATTAGTATCCTTCCATTCAGACTCGCCAGTGGACTGAAAGCTAACTTCCCTGATAGAGAAGATGTCACTCTCAGCCTCGTCTTCTTGTCCAACCTGAGAAGAAACAATATTGGGAAACTGAAGGGTTCTCCAGGACAAGCTAGACTCAGGGGAAGAAAGGGGGCCACTGACAGCATGAAACTCATCAGGTTTTAACCCTCTTCCCTCACTCCCCACCTCTCTCCCCCTGCTGGGCTGGTCTAAGCTAGAAAAGTGTTTAAATTTCTGCTAAAATAGGGACAGGAAGTTCCCAAGGGACACACTGTTCCCCAGGGGTGCCAAGAGGCTAGCACTCCATCCTGCATACCTCATCCTCTGGATAATGACAGTCCAACACAAGGGCCTTCTTGCCATCATCATTCTTTATAACTTCAACCACGAAATTGGGAGTTGATGTCAGTTCAGGCTGGGGAAACAAGAAGTCAATACATGCTGCTGCTGGAAGGAGATGGATGGCTGGATCAAGGATCTCTGTTCAGAGTGTCTGATGGCCACCACTATTAGGATATTATGTAGCCATTTGAATAGTCTTATGCCATACTATTCCCAAATGAAGAGCTTGATCTCACTTCTGTTGGCACCCTGCTTGGTTAAATAACACACTGGGTTTTCAGTTAAGAAATGTGGATACCAGCCTCAGCTATGTGCCAATTAACTGAGTTTATATCAGTCCCTTAACATTCCAAGCCTTTTCCTCCACCCGTACACTGCAAAGCTTTCCTAAAGTTTCAAGATCTCTTTCCAGCTTGACTGTTCCAGGAGTCTTCATAAGGGACCAGGGTCAAAGGCTGGGGAACCTGGCCATCCTTATGGCTGAATAACAGCAGCAGCTTTTCCTCTGATGCGGAGCTCTGGGAGCAGACTGGGTCCAACGTCAGGGAGATGCTAGTTGGGGTGGCTGGGAAAGCAGCACACCAGAGAGCTGCGCCGTCCACACCAGGTCATGACCCAACACTGTACTGATGGCTCTTGGGCAGAATGTCTAGGGACTCTGTGGCCCTCATACTGGCTGGTTACTAGGCTGGGCACAGCACTTCCTGAAATGTTTGAAGAGTAGGCATGATCCAGTTAAAGTCTCTTATGCCCCTGCCATTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGGACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATGCGACTGGACTTAGAGGAATTTTTTTTTTTTGAAAGACCAAAGAAAAACGCTCCTCCTCTAAGCCCCAGGCACAGCCTGTCAGAACTGAGGTAAAAGCTGATTATAGTATTAGCTTACCTCCTGTTCTTCAACCTTCTGCCCTTGCGAGGGTTCCTCCTCACCATCAAATGTTGGTGGGATGCTGTTGTTAATGTTGAAAGTGACCGTGATTCTAAAACGGCAAGGGAAAACAGACAAGGCAAAACAGACAAGGCATGGTTTTAACCGAGCAGGTTAACACATAAACATGGAAATCTGCTACAGTTAAAAAGGCGTATTGAAACAATGTCTCTG
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Task1_train_23316
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A variant has been detected on Chromosome 17 in C1QBP (complement C1q binding protein). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Combined oxidative phosphorylation deficiency 33
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GTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGCTCGCACCTGTACTCCCAGCTACTCGGAAGGCTGAAGTGGGAGGATGGCTTGAGCTCAGGAGGCAGAGGTTGCAGTGAGCTGAGAGGGCGCCATTGCGCTCCAGGCTGGGTGACAGCGAGATTGTGCCTTAAAAAAAAAAAAAAAAGAGGAGGGGGAAAGACAAAATTGTATTCTGTAGGTCTTGAGTTCAACATTTGGAAAGGTAGACATTTGGAATGCTCTAGTTCCACTAGACCTTTGGTTTTCACTTAAGGGGGAATCAAGGACCATTGTGTTAGAATCCAGTGAGGTCAGGACGTAGGGACGCTCAGGACAGATGGCTGAGGATGTGTTGAAAGATAGGGGTGGGTTACAGAAGATTGCACTCTATCACAAGACGAGGAATGTTTCGGATGTGGCGGTGCTCAAGTGGTGGTCCTGGGATGGAATATGCCAAACCGCCTATTAGCAGAGTTACAGTGTCTTTTAGAGAAAGCCAAACATATTACCTGTGGAAGTGGTAAGAAACAAGAGTAACCCACTTATGCCTACTGTTTAATTATTGGAACGCTAAGCCTGTGGGAGTTATTGATCCCCTACTGCTCAAGGTCATCGCCAAGGTCTGATTTTTCACACAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAAGGACAGACTGGATTCCTTAGCATAGTGGAGAGGCTGAGCCACCCAGGAGTCGGGAGGCAGTTTTACACTCAGGTGCTTACTGATCATGTCTTTACATGTTTTCTGCCCGTACTGATCATGCATGGTTTGCACCTCCCCTATGATACATACCTGCTTCAATCTTGTGTAGATTTGGAGTCTCATCTTCCTGCTGGGCTCTAAAAGCTCCAGGCTATCAAGAGTTTGAATACAATCTTTCTGGTCAGTGGTTTCCTGATGGTGAGGATGTTTGATTAGTTCATCTACAGGATTTGATCTTAGCTTGAAGACTATTGATGCTGATGGTTCCCAGGGCAGTTGTTTGAAGGCTGCAGGACAGAGGTCCAGCAATGCCAAAGAGGGGCGGTCATCATGACAAACTACACTACTGAACTAATTGAAACTGGACTCAGGAGACCTCATCTAATGTGTAGAATTCTCATTGATTACAACTTTTATCAGATATCTTTCATGACTAGAATACAATTTAAGCTAATTATTTTCCTGTTTAAACCTAGGCCTGTGATACTTGGGCTGTGATCCTCTAGAGCCAGCTTGGACTCACATCATTCTATGGGGTTGAAGACAACTCATTCCCTCTGAGGAGCCTTGTACATACAAGCCTTTTATTTATAACTTATTTTGTATTGAAACTTTTAAACAATACTGAAGAAAAAAAAACTTTTCCGACATCTGTTCTTGGTCTTTTGTGACGCAGGTTGAAGGGGGAGGAATAGAAAAAGACAAACTGCCTTGGAGGAGATAAACCAATTTTATGTCTATCATGTTATACAAAAATCTAGAAATAATAGATTTGTACAGAAAAAAATGATAATAAATGAGAACACAAAACATATAATTTAAATTTGGTATTTTTTCCCCCATGATATTAGGATGATAATCATTTCAAAGCACATGTCTAGCTTCAGAGTAGGATTTGTTCACTGGCCAAAGCCTGCCATGAAACTATGGCTTTCAGCATCTGTCTGCTCTACTGGCTCTTGACAAAACTCTTGAGGTCTTCAAGAAAAGTAATGTACTCCTGGTGCTCCAGGGCTGTGCTGAGCTCCACCAGCTCATCTGCAAAAGTGTTGTCCACCCCTCGGTCGGCAAGGAAATCCATTAGGTGGTCATATAAGGCCTGCAAAGAACAATATTTACTAGTTAAAAAAAAATCTGTAATGAACATTAAAATGCTTTTTTCTCCCCTTGAACTAGGACCCTTCCTTCCAAGGCCCAAAAGGTTCCCCCACCTTATCAAGCACTCACCCAGTCCAAGGAATCTGTGTTGAGTGTATAATTAGTATCCTTCCATTCAGACTCGCCAGTGGACTGAAAGCTAACTTCCCTGATAGAGAAGATGTCACTCTCAGCCTCGTCTTCTTGTCCAACCTGAGAAGAAACAATATTGGGAAACTGAAGGGTTCTCCAGGACAAGCTAGACTCAGGGGAAGAAAGGGGGCCACTGACAGCATGAAACTCATCAGGTTTTAACCCTCTTCCCTCACTCCCCACCTCTCTCCCCCTGCTGGGCTGGTCTAAGCTAGAAAAGTGTTTAAATTTCTGCTAAAATAGGGACAGGAAGTTCCCAAGGGACACACTGTTCCCCAGGGGTGCCAAGAGGCTAGCACTCCATCCTGCATACCTCATCCTCTGGATAATGACAGTCCAACACAAGGGCCTTCTTGCCATCATCATTCTTTATAACTTCAACCACGAAATTGGGAGTTGATGTCAGTTCAGGCTGGGGAAACAAGAAGTCAATACATGCTGCTGCTGGAAGGAGATGGATGGCTGGATCAAGGATCTCTGTTCAGAGTGTCTGATGGCCACCACTATTAGGATATTATGTAGCCATTTGAATAGTCTTATGCCATACTATTCCCAAATGAAGAGCTTGATCTCACTTCTGTTGGCACCCTGCTTGGTTAAATAACACACTGGGTTTTCAGTTAAGAAATGTGGATACCAGCCTCAGCTATGTGCCAATTAACTGAGTTTATATCAGTCCCTTAACATTCCAAGCCTTTTCCTCCACCCGTACACTGCAAAGCTTTCCTAAAGTTTCAAGATCTCTTTCCAGCTTGACTGTTCCAGGAGTCTTCATAAGGGACCAGGGTCAAAGGCTGGGGAACCTGGCCATCCTTATGGCTGAATAACAGCAGCAGCTTTTCCTCTGATGCGGAGCTCTGGGAGCAGACTGGGTCCAACGTCAGGGAGATGCTAGTTGGGGTGGCTGGGAAAGCAGCACACCAGAGAGCTGCGCCGTCCACACCAGGTCATGACCCAACACTGTACTGATGGCTCTTGGGCAGAATGTCTAGGGACTCTGTGGCCCTCATACTGGCTGGTTACTAGGCTGGGCACAGCACTTCCTGAAATGTTTGAAGAGTAGGCATGATCCAGTTAAAGTCTCTTATGCCCCTGCCATTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGGACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATGCGACTGGACTTAGAGGAATTTTTTTTTTTTGAAAGACCAAAGAAAAACGCTCCTCCTCTAAGCCCCAGGCACAGCCTGTCAGAACTGAGGTAAAAGCTGATTATAGTATTAGCTTACCTCCTGTTCTTCAACCTTCTGCCCTTGCGAGGGTTCCTCCTCACCATCAAATGTTGGTGGGATGCTGTTGTTAATGTTGAAAGTGACCGTGATTCTAAAACGGCAAGGGAAAACAGACAAGGCAAAACAGACAAGGCATGGTTTTAACCGAGCAGGTTAACACATAAACATGGAAATCTGCTACAGTTAAAAAGGCGTATTGAAACAATGTCTCTGTCCTAGCTGGCTGAATTATATGCAGAACTTCAAACTAGGCTGGGTGCCTACATCCAATCCTGAGTGACTCAGCAGGTCTGAAGT
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GTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGCTCGCACCTGTACTCCCAGCTACTCGGAAGGCTGAAGTGGGAGGATGGCTTGAGCTCAGGAGGCAGAGGTTGCAGTGAGCTGAGAGGGCGCCATTGCGCTCCAGGCTGGGTGACAGCGAGATTGTGCCTTAAAAAAAAAAAAAAAAGAGGAGGGGGAAAGACAAAATTGTATTCTGTAGGTCTTGAGTTCAACATTTGGAAAGGTAGACATTTGGAATGCTCTAGTTCCACTAGACCTTTGGTTTTCACTTAAGGGGGAATCAAGGACCATTGTGTTAGAATCCAGTGAGGTCAGGACGTAGGGACGCTCAGGACAGATGGCTGAGGATGTGTTGAAAGATAGGGGTGGGTTACAGAAGATTGCACTCTATCACAAGACGAGGAATGTTTCGGATGTGGCGGTGCTCAAGTGGTGGTCCTGGGATGGAATATGCCAAACCGCCTATTAGCAGAGTTACAGTGTCTTTTAGAGAAAGCCAAACATATTACCTGTGGAAGTGGTAAGAAACAAGAGTAACCCACTTATGCCTACTGTTTAATTATTGGAACGCTAAGCCTGTGGGAGTTATTGATCCCCTACTGCTCAAGGTCATCGCCAAGGTCTGATTTTTCACACAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAAGGACAGACTGGATTCCTTAGCATAGTGGAGAGGCTGAGCCACCCAGGAGTCGGGAGGCAGTTTTACACTCAGGTGCTTACTGATCATGTCTTTACATGTTTTCTGCCCGTACTGATCATGCATGGTTTGCACCTCCCCTATGATACATACCTGCTTCAATCTTGTGTAGATTTGGAGTCTCATCTTCCTGCTGGGCTCTAAAAGCTCCAGGCTATCAAGAGTTTGAATACAATCTTTCTGGTCAGTGGTTTCCTGATGGTGAGGATGTTTGATTAGTTCATCTACAGGATTTGATCTTAGCTTGAAGACTATTGATGCTGATGGTTCCCAGGGCAGTTGTTTGAAGGCTGCAGGACAGAGGTCCAGCAATGCCAAAGAGGGGCGGTCATCATGACAAACTACACTACTGAACTAATTGAAACTGGACTCAGGAGACCTCATCTAATGTGTAGAATTCTCATTGATTACAACTTTTATCAGATATCTTTCATGACTAGAATACAATTTAAGCTAATTATTTTCCTGTTTAAACCTAGGCCTGTGATACTTGGGCTGTGATCCTCTAGAGCCAGCTTGGACTCACATCATTCTATGGGGTTGAAGACAACTCATTCCCTCTGAGGAGCCTTGTACATACAAGCCTTTTATTTATAACTTATTTTGTATTGAAACTTTTAAACAATACTGAAGAAAAAAAAACTTTTCCGACATCTGTTCTTGGTCTTTTGTGACGCAGGTTGAAGGGGGAGGAATAGAAAAAGACAAACTGCCTTGGAGGAGATAAACCAATTTTATGTCTATCATGTTATACAAAAATCTAGAAATAATAGATTTGTACAGAAAAAAATGATAATAAATGAGAACACAAAACATATAATTTAAATTTGGTATTTTTTCCCCCATGATATTAGGATGATAATCATTTCAAAGCACATGTCTAGCTTCAGAGTAGGATTTGTTCACTGGCCAAAGCCTGCCATGAAACTATGGCTTTCAGCATCTGTCTGCTCTACTGGCTCTTGACAAAACTCTTGAGGTCTTCAAGAAAAGTAATGTACTCCTGGTGCTCCAGGGCTGTGCTGAGCTCCACCAGCTCATCTGCAAAAGTGTTGTCCACCCATCGGTCGGCAAGGAAATCCATTAGGTGGTCATATAAGGCCTGCAAAGAACAATATTTACTAGTTAAAAAAAAATCTGTAATGAACATTAAAATGCTTTTTTCTCCCCTTGAACTAGGACCCTTCCTTCCAAGGCCCAAAAGGTTCCCCCACCTTATCAAGCACTCACCCAGTCCAAGGAATCTGTGTTGAGTGTATAATTAGTATCCTTCCATTCAGACTCGCCAGTGGACTGAAAGCTAACTTCCCTGATAGAGAAGATGTCACTCTCAGCCTCGTCTTCTTGTCCAACCTGAGAAGAAACAATATTGGGAAACTGAAGGGTTCTCCAGGACAAGCTAGACTCAGGGGAAGAAAGGGGGCCACTGACAGCATGAAACTCATCAGGTTTTAACCCTCTTCCCTCACTCCCCACCTCTCTCCCCCTGCTGGGCTGGTCTAAGCTAGAAAAGTGTTTAAATTTCTGCTAAAATAGGGACAGGAAGTTCCCAAGGGACACACTGTTCCCCAGGGGTGCCAAGAGGCTAGCACTCCATCCTGCATACCTCATCCTCTGGATAATGACAGTCCAACACAAGGGCCTTCTTGCCATCATCATTCTTTATAACTTCAACCACGAAATTGGGAGTTGATGTCAGTTCAGGCTGGGGAAACAAGAAGTCAATACATGCTGCTGCTGGAAGGAGATGGATGGCTGGATCAAGGATCTCTGTTCAGAGTGTCTGATGGCCACCACTATTAGGATATTATGTAGCCATTTGAATAGTCTTATGCCATACTATTCCCAAATGAAGAGCTTGATCTCACTTCTGTTGGCACCCTGCTTGGTTAAATAACACACTGGGTTTTCAGTTAAGAAATGTGGATACCAGCCTCAGCTATGTGCCAATTAACTGAGTTTATATCAGTCCCTTAACATTCCAAGCCTTTTCCTCCACCCGTACACTGCAAAGCTTTCCTAAAGTTTCAAGATCTCTTTCCAGCTTGACTGTTCCAGGAGTCTTCATAAGGGACCAGGGTCAAAGGCTGGGGAACCTGGCCATCCTTATGGCTGAATAACAGCAGCAGCTTTTCCTCTGATGCGGAGCTCTGGGAGCAGACTGGGTCCAACGTCAGGGAGATGCTAGTTGGGGTGGCTGGGAAAGCAGCACACCAGAGAGCTGCGCCGTCCACACCAGGTCATGACCCAACACTGTACTGATGGCTCTTGGGCAGAATGTCTAGGGACTCTGTGGCCCTCATACTGGCTGGTTACTAGGCTGGGCACAGCACTTCCTGAAATGTTTGAAGAGTAGGCATGATCCAGTTAAAGTCTCTTATGCCCCTGCCATTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGGACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATGCGACTGGACTTAGAGGAATTTTTTTTTTTTGAAAGACCAAAGAAAAACGCTCCTCCTCTAAGCCCCAGGCACAGCCTGTCAGAACTGAGGTAAAAGCTGATTATAGTATTAGCTTACCTCCTGTTCTTCAACCTTCTGCCCTTGCGAGGGTTCCTCCTCACCATCAAATGTTGGTGGGATGCTGTTGTTAATGTTGAAAGTGACCGTGATTCTAAAACGGCAAGGGAAAACAGACAAGGCAAAACAGACAAGGCATGGTTTTAACCGAGCAGGTTAACACATAAACATGGAAATCTGCTACAGTTAAAAAGGCGTATTGAAACAATGTCTCTGTCCTAGCTGGCTGAATTATATGCAGAACTTCAAACTAGGCTGGGTGCCTACATCCAATCCTGAGTGACTCAGCAGGTCTGAAGT
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Task1_train_23317
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This variant lies on Chromosome 17 and affects the gene NLRP1 (NLR family pyrin domain containing 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Respiratory papillomatosis, juvenile recurrent, congenital
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GTCCAGGCTGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCCTAGGGGACAGAGCGAGACTCCGTCTCAGACAACAACAAACCAAAAAAAAAAAAAAATACCCCACACCCACTCACAAGAAGATAGCCTTGATATATAAAGAAAATAAAACTGACTATAAAATAAAATGTACAATATGGTTCGATTTCGCCATAGACATGTGCACAGAAAAAAGACTGGGGTTCTTACAATTGACCACTAATTTTTTTTTTTTTTGAGACTGAGTTTTGCTCTTTTTCCCAGGCTGGAGTGAAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCCCTGACCTGTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGACACCATTTTCGGCTAATTTATGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCAATTTTTAATGATGGTTATTACAGAATGATGGAATTCTTATTGATACTATTTTTCATCTTTTTGCTTATCTACGTTATCTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTGGCTCTGTTGCCCAGGTTGGAGTTCAGTATCACGATCTCAGCTCATTGCAAACTCCGTCTCCCAGATTCAAGTGATTCTCATGCCTCAGTCTCCCTAATAGCTGGGATTACAGGCGTGTGCCACCATGCCCAGATAATTTTTGTATTTTTTGGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTACTGGAATTACAGGTGTGAGCTACTTCACCCAGCCTACATATCTTTTTTTTTTTCCTATAATGAACATGAATTTTATTGTGAGAAAAAGTTTTAAAAATATAAATATGAAGGCCCACATCAAACATTTCTTCCTCTGAGAATCTTTATTACCCACTCGTGTGATCACTCCCTTCCTTGGGCCACCACAGTACCTTGTCCATACCTCTACTGTTGTAGACATCACACTCTGTTGTCATTAAATGAATGTTTGTCTTCTCCCCTATTTTTTGAGCTCCTTAAGGCACGTATTGTGCTTTTTAATCTGTGATCTGTAGGGCCTGGCATAGAATCAGTGCTTAATAAATACTTATGGAATGAATCATCTAAAGCAGGACATAGACACATACCAATAGCATGTGATCGATACCACGACAGAGGTCGGGGAACCGGGATGGGGAAGTTCTCAGTACTGCCGGGCTGGAGAATGGTTGGAGGAAGCTATTCTTGCACAGCCAGAGAGTGGGTTTCAGGTTGAGTGCGTGGGGCAATGGTGGCACCACGGTCACAAATAATTATGAAGTCAGTTTTGCAGGGAAAAATAGGAAACTCTTTTTGAGAGCTGATGGGGAAGATCTCAGGGCCAATGTCGTTGTCATGGAAAGGGTTCCTGAAGCAGCTGGAGGAGCAATTTCTCCGAGAGAATGAATGCCCAGAGAGAGGAGCAGGGGTAGGGGGGCTGCCTGATCCTTGGGGAGTGTGGGGGTAGCTAAGGTCAGCAGGAAGGTGGGAGCACGTCCAGGAGAGAAGATGGACGGTCATTCTAAGGGTAGGAGGAGAGGTGGCAGACACGGCAGGGCCCAGTGGCCTCTCCAGAAGCAAGCAGGGCCTGCCCCACAGCCGGGCACTGCAGAGGAGCTTAGGTAGACAGAGCATGGTGGTCAGATTGGGCAGTTAGAAGTCACTGGAGACCCTGATCCTTTAGCCACCCCCACCCCCGGCCAGGCTCAGTGAGCATGCCTCTGGTGCTCAGGTCACTCGGGCTTATGGACTGACAGAGGAGCTGCAGACATGGGTGGTTTGGGTACTCACAGGACTACCATGGTGGGGCTCCATGTTGATCTGTGCTGCCTGCCCTCAATCAGCTGAAGCTTCTTCACGTGGCGGCTGAATTTAATGCAGAAAGTGCACACTAAGAGCTCCATGTCTGTTTCTACACACATGCCCATTTCTTCGAAATGGGCCATCACTTGTGTCAGGAACGTTTTGTTCCGAGTCTCGTACAAGCAGTGGAGGGACTCCAGAGAGTGTGGCTGCAGCAGCAGCTGCAGGGACGGGACCCACTGCATCAGGTTCCTCCCCTGAGACAGCCGGCAGTGAAAGATGTTCTCCATCTCTCTCTCCCCCTCATCACTTAACAGGCCCAATAGGAAACGTGTGGTTGATGCCCCAAACAGGCCATGTATTCCATATGCTTCTAGCGTCTTTTCCAAATCTATGATGCAATTAGAATGTTTACCTCTCCCCTTCTCATCCTCCAAGACATAGGACATTGCTGCAAAGAACTCTTGGAAACAGAGGTGAATGAAGCTGTAGCTCAGAGGGATGGGGTGCTCTTGAAGAATACCCATCTTCAAGAAGGTGGAGATGATGGCCCCATCTAACCCATGCTTCCTGAGGTCATCTGGACTGAAAAGGGTCTTTTTTTGCCAGATGCCCTCAGCAGCCAGAGAGCAGAGGTCTCTGAGCTGGGGTCCCAATGGCTGAGCTTGGAGAGCCTGGGCAAGGTAATGTAGACAGAGGGTTGTGGTGGTCTTGGAAGTCAGTGTGAGTTTTTCCTTCCGCTTCATCTGCTGCATCAGGCAAGTGCAGGCCAGCCAGGACACCCAGGGCACAAGACACAGGGCCCAGAGCTCTTTGTTTGATTTGACCAACCTAAAGGCTCTAATTGCTTGCCTTTCATCTGTGAAATATCTGTAGAAATATTCCTTCCTGCTGGACTCAGAGAACCCCAGGACCTCTACCCAACGTGCCTGCTCCAAAGAAGGAATGAGGTTCTGCAGAGCTGTGGTCCGAGCCGTGATCAGGAAGGATGCCTCGGGAAGTATAGTTTTCCCCAGCAAACTGCCCAGCAGTGCATCCGCCGGCTGTGGCTGGCTCCAGTGCAGACAGAGCTCAGAACTCGGCTCCTGCAAGACCCATCCTGGCTCATCTACACCATCGAGGATGAAGAGCAGCCGCTCTGGCCTAGACAGGATCTGTCTAATGGGAGCCGGAGTGGCTGTCCCATCTTTTCCGATGAGCTCAGCGAGACTCACCACCTTGGACTGGGCCAGCTCTCTGCAGCTGAAGTAGAAGACATGCTGGAAGCGGTCCCCATACAGCTGGCCTCTCCCCCAGGCTTCCTTCACCTGCCTGGCCAGTGTTGACTTCCCAATTCCAGCAGCCCCCTGCAGTATGACTATGCGAGGTTCTTGGGTATCCAGGCCTGGGCCAAATAAGTCTCTGATCTCAATTAAATGTCCTCGATTCTCCTCCACATAATCAGGCCAGCTTCTCTTGACCAGGGGATCTTGGCTTCTGGGGTGAGGTCTTTGTAGAAGTAGCAGCTGTGTGAATTTTTGGTTAAAATCCTCATTTTTCCAGGGCCATGTGGAACAGAGGCTCTCTCTCACAGAAGGCTCCCATGGGTGGTGGTGGGGCTGTAGGCTGGTGTGCGCCTGTGGGGGCGTTCCTACCACCGCTGCCCATGGGGGCCTGCCTTTCTCTGATTTCTCTCTCTCTCTTTCTCTGATTTCTAAGTAAGGGAGGGAAAGAAGGAACATAAAGGTAGAGAATAGAAGAATTAATTAATTAATTAAACAACTGTTTTAGGCACCTACTCCAAGCCACACACTGCGCTGTCTGCAGACACTGGTATGTTCTTGCCATGCGGCGGAAGGACATGTGCTTTGGGGTAGAATATCCCAGTTCAAGTCTTGACTCAACTAAGTCACACTCCCTGAATGACTTTCCTTCACTGAATATTTATCAAGGGCTTACTCTGTGCCAGGTGCTGCTATAGGGGTTGGGGATAAAGAGTGAACAAAACAGACACAACTCTCAGTCCTCACTAAGCTTATGATGCTGGCCATTAGCCCCTATGAGCCTCAGTTTTCTCATCTGTAAGCTGGGGGTTGTAGGTCATGGAGGACTGGAGGAGACACTGGAGTGTGTAGCAGATGCTGACAGCA
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GTCCAGGCTGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCCTAGGGGACAGAGCGAGACTCCGTCTCAGACAACAACAAACCAAAAAAAAAAAAAAATACCCCACACCCACTCACAAGAAGATAGCCTTGATATATAAAGAAAATAAAACTGACTATAAAATAAAATGTACAATATGGTTCGATTTCGCCATAGACATGTGCACAGAAAAAAGACTGGGGTTCTTACAATTGACCACTAATTTTTTTTTTTTTTGAGACTGAGTTTTGCTCTTTTTCCCAGGCTGGAGTGAAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCCCTGACCTGTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGACACCATTTTCGGCTAATTTATGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCAATTTTTAATGATGGTTATTACAGAATGATGGAATTCTTATTGATACTATTTTTCATCTTTTTGCTTATCTACGTTATCTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTGGCTCTGTTGCCCAGGTTGGAGTTCAGTATCACGATCTCAGCTCATTGCAAACTCCGTCTCCCAGATTCAAGTGATTCTCATGCCTCAGTCTCCCTAATAGCTGGGATTACAGGCGTGTGCCACCATGCCCAGATAATTTTTGTATTTTTTGGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTACTGGAATTACAGGTGTGAGCTACTTCACCCAGCCTACATATCTTTTTTTTTTTCCTATAATGAACATGAATTTTATTGTGAGAAAAAGTTTTAAAAATATAAATATGAAGGCCCACATCAAACATTTCTTCCTCTGAGAATCTTTATTACCCACTCGTGTGATCACTCCCTTCCTTGGGCCACCACAGTACCTTGTCCATACCTCTACTGTTGTAGACATCACACTCTGTTGTCATTAAATGAATGTTTGTCTTCTCCCCTATTTTTTGAGCTCCTTAAGGCACGTATTGTGCTTTTTAATCTGTGATCTGTAGGGCCTGGCATAGAATCAGTGCTTAATAAATACTTATGGAATGAATCATCTAAAGCAGGACATAGACACATACCAATAGCATGTGATCGATACCACGACAGAGGTCGGGGAACCGGGATGGGGAAGTTCTCAGTACTGCCGGGCTGGAGAATGGTTGGAGGAAGCTATTCTTGCACAGCCAGAGAGTGGGTTTCAGGTTGAGTGCGTGGGGCAATGGTGGCACCACGGTCACAAATAATTATGAAGTCAGTTTTGCAGGGAAAAATAGGAAACTCTTTTTGAGAGCTGATGGGGAAGATCTCAGGGCCAATGTCGTTGTCATGGAAAGGGTTCCTGAAGCAGCTGGAGGAGCAATTTCTCCGAGAGAATGAATGCCCAGAGAGAGGAGCAGGGGTAGGGGGGCTGCCTGATCCTTGGGGAGTGTGGGGGTAGCTAAGGTCAGCAGGAAGGTGGGAGCACGTCCAGGAGAGAAGATGGACGGTCATTCTAAGGGTAGGAGGAGAGGTGGCAGACACGGCAGGGCCCAGTGGCCTCTCCAGAAGCAAGCAGGGCCTGCCCCACAGCCGGGCACTGCAGAGGAGCTTAGGTAGACAGAGCATGGTGGTCAGATTGGGCAGTTAGAAGTCACTGGAGACCCTGATCCTTTAGCCACCCCCACCCCCGGCCAGGCTCAGTGAGCATGCCTCTGGTGCTCAGGTCACTCGGGCTTATGGACTGACAGAGGAGCTGCAGACATGGGTGGTTTGGGTACTCACAGGACTACCATGGTGGGGCTCCATGTTGATCTGTGCTGCCTGCCCTCAATCAGCTGAAGCTTCTTCACGTGGCGGCTGAATTTAATGCAGAAATTGCACACTAAGAGCTCCATGTCTGTTTCTACACACATGCCCATTTCTTCGAAATGGGCCATCACTTGTGTCAGGAACGTTTTGTTCCGAGTCTCGTACAAGCAGTGGAGGGACTCCAGAGAGTGTGGCTGCAGCAGCAGCTGCAGGGACGGGACCCACTGCATCAGGTTCCTCCCCTGAGACAGCCGGCAGTGAAAGATGTTCTCCATCTCTCTCTCCCCCTCATCACTTAACAGGCCCAATAGGAAACGTGTGGTTGATGCCCCAAACAGGCCATGTATTCCATATGCTTCTAGCGTCTTTTCCAAATCTATGATGCAATTAGAATGTTTACCTCTCCCCTTCTCATCCTCCAAGACATAGGACATTGCTGCAAAGAACTCTTGGAAACAGAGGTGAATGAAGCTGTAGCTCAGAGGGATGGGGTGCTCTTGAAGAATACCCATCTTCAAGAAGGTGGAGATGATGGCCCCATCTAACCCATGCTTCCTGAGGTCATCTGGACTGAAAAGGGTCTTTTTTTGCCAGATGCCCTCAGCAGCCAGAGAGCAGAGGTCTCTGAGCTGGGGTCCCAATGGCTGAGCTTGGAGAGCCTGGGCAAGGTAATGTAGACAGAGGGTTGTGGTGGTCTTGGAAGTCAGTGTGAGTTTTTCCTTCCGCTTCATCTGCTGCATCAGGCAAGTGCAGGCCAGCCAGGACACCCAGGGCACAAGACACAGGGCCCAGAGCTCTTTGTTTGATTTGACCAACCTAAAGGCTCTAATTGCTTGCCTTTCATCTGTGAAATATCTGTAGAAATATTCCTTCCTGCTGGACTCAGAGAACCCCAGGACCTCTACCCAACGTGCCTGCTCCAAAGAAGGAATGAGGTTCTGCAGAGCTGTGGTCCGAGCCGTGATCAGGAAGGATGCCTCGGGAAGTATAGTTTTCCCCAGCAAACTGCCCAGCAGTGCATCCGCCGGCTGTGGCTGGCTCCAGTGCAGACAGAGCTCAGAACTCGGCTCCTGCAAGACCCATCCTGGCTCATCTACACCATCGAGGATGAAGAGCAGCCGCTCTGGCCTAGACAGGATCTGTCTAATGGGAGCCGGAGTGGCTGTCCCATCTTTTCCGATGAGCTCAGCGAGACTCACCACCTTGGACTGGGCCAGCTCTCTGCAGCTGAAGTAGAAGACATGCTGGAAGCGGTCCCCATACAGCTGGCCTCTCCCCCAGGCTTCCTTCACCTGCCTGGCCAGTGTTGACTTCCCAATTCCAGCAGCCCCCTGCAGTATGACTATGCGAGGTTCTTGGGTATCCAGGCCTGGGCCAAATAAGTCTCTGATCTCAATTAAATGTCCTCGATTCTCCTCCACATAATCAGGCCAGCTTCTCTTGACCAGGGGATCTTGGCTTCTGGGGTGAGGTCTTTGTAGAAGTAGCAGCTGTGTGAATTTTTGGTTAAAATCCTCATTTTTCCAGGGCCATGTGGAACAGAGGCTCTCTCTCACAGAAGGCTCCCATGGGTGGTGGTGGGGCTGTAGGCTGGTGTGCGCCTGTGGGGGCGTTCCTACCACCGCTGCCCATGGGGGCCTGCCTTTCTCTGATTTCTCTCTCTCTCTTTCTCTGATTTCTAAGTAAGGGAGGGAAAGAAGGAACATAAAGGTAGAGAATAGAAGAATTAATTAATTAATTAAACAACTGTTTTAGGCACCTACTCCAAGCCACACACTGCGCTGTCTGCAGACACTGGTATGTTCTTGCCATGCGGCGGAAGGACATGTGCTTTGGGGTAGAATATCCCAGTTCAAGTCTTGACTCAACTAAGTCACACTCCCTGAATGACTTTCCTTCACTGAATATTTATCAAGGGCTTACTCTGTGCCAGGTGCTGCTATAGGGGTTGGGGATAAAGAGTGAACAAAACAGACACAACTCTCAGTCCTCACTAAGCTTATGATGCTGGCCATTAGCCCCTATGAGCCTCAGTTTTCTCATCTGTAAGCTGGGGGTTGTAGGTCATGGAGGACTGGAGGAGACACTGGAGTGTGTAGCAGATGCTGACAGCA
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Task1_train_23318
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This alteration in NLRP1 (NLR family pyrin domain containing 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
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TCCTGGAAACAGTGCCTTGGACCAGTGGAGAGGCTCCAAGGGTGGGATTTCCTGAGGGAAATTTCAGATGTTTTCCAGAACCTCTGCTTAGCCTGCCAACCTGGTCCCCAGGGGACTCTTTGTCCATACATTTGCCTCTCCCACCTCACCACCCCGCCAGGAGCTCAGTAGGGTCTCACCTGTGTAGTAAATTCCTGACGTTTCATCCAGAGGCCATTGGGTCCCAGGAGCCTCCTGCTCTCTGGGTGCTAGGCTGGGCTGAGGTGGGGATCCCCAGCTCCCCAGCACTGCTGTGGATGTGGGGGCGTTGGGTGACTCCTGGCTTGGAGACTCATGGTCTGGGGAGCTTGGAAGAGCTTGGTAGAGGAGTGAGGCAGAGATTTCTGGGGGGAATGAAAAGAAAAATAACCATTTACTGAACATTTATTTTCTTTTAGGTGCATATATTTTAAACTCTCACAACAGTCCTGAGAGATGGGTCTTAATAATATTATTTTGAAAACCATGTTGAAGTAGAGGGGCAATTTTATTCTCTTAGTAGTGAAGAGAGAAGTCATGTGAGGGAGCTGGCTTGGGCCGAGGACTAAGCCTAGCCTCTTCTTGGGGTCTGTCTGGAAAACAGAGTCCTCCTTGGAACTTCTGGACCACCCTGACCCTAAGGATCTTCAGAGCCCATCAATATTATGAGCTGAGTTCTCGGGCAAGGACCATGTCACGAGTTGGGCACCCAGTTGGGGAAGACTCATTGCCTGACCCACATGGGTCTCAGCTTCCCCATCTGCCACATGGGGAGGGATGCAATCTCAGCACCGGAAGGTCCCTGAAAGATCAATTTCAGGCCTACCTCTCACAGCCCATCCTGGCTCCCCTATCCTTCCTCTGCTGTCCCCCATGTCAGGTCCCCATGCACAGACATGATCCTCTGGGTGGGGCCCACCAGCTGATTCACAGCTCCACCCAGGGCTGTCAGCCTGCCTCAGCAAGCCTCACCTCTCCAGCGGCGTCCAGATGTGTCAGGCAGCTGTCTCAAAACCCTTCTCTCTGAGCCCTGGGTGCACCCCGCCGGCAATTCATGGATCCAGGGCATTAGCACTGCGGTGGAGGTGGGTTGGCTGGGAGACCCCAGGTGGGGTTCACTTGGGCTGTAGGGGAATGAGGGAGAGTGGCCTACAGGAAAGAGACAAAGAGGTTGGAGACACATCAGAGGGGCAGGGGCAAGGTGCCAGGGAACTGAGCTGGTCTCCTCTCTCAACCAAGAGAGGTCAGGATACACCAGTGAACCCGCTGCAGCCCTCTACAACTTCCTCTAGAGGCTTGTCTGAAGAATGATGTTCTTATAGATACTGCTAGGCAAAAAATCCTCATCTAGGATCAGGAAATTTGCATATCTGTCTTGGTCCTGACTATCTCCCTGTGTAAATCACTACTCCTACTGAGCCTCAGCTGTGCTTTATTGGGCCAACGGCATCTGCAACCCAGGGTGGCTAATAGTAATAATAACAGCAGCAGCAGCAGCAGCAACAACAGCAATGGGAGATCTTATTTATTGAGCACTTACTGTATATCAGACTCTGTGCTAAATGTTTAACCTGGATGATCTCTTTTAACCCTCACACAGCCCAGGGAGGCGGGCTCTCACTCTCCCATTTTGCAGACAGAGAAATAGGCAGAGAGCAGTGAAGTGATTGGCCCAGGGTGATAGTGCCAGGACTGGTGATAGTGCCTGACTCCCAAGTCCGTGCTCATAACTACAATGCCAGGCGAGTACCGGGAATGCACTTGAATAGAAGAGGGTGTGGGGCTCTGAGGTGCAGCAAGGGCCCCCCCAGCAAGCCTCCTGGCTCCAGCATAGTCTGGGGCCTGGATCCCCCTTTGAGAGGGCAGTTCCATGTCACTGCTCAGAGGAAGGCCTGGCAGGGAGGGCTCAGTGGTGGGGTCCCAAGAGGGCAGGGCAGGCATGAGGGCCAGGGGATGTCCCGCGGGCAGTGGGGTCCTCTGTCCACTCACCTGCCCCTTCCTGGGCTTGGGCGCACAGTGACCTCAGCCCCATCTGCTCCCAGGTATGGAGGGCTAGGTCCCAGGCCCGCTGCTCCCCATACTGAGCCACCAGGTACGAGGCCACCTCCATGCCACTCGTCTTCTCTGGCTGAGCGGGTGTCTCACCCGAAGAGCTCCTGGAGTGCGCTTTATTGGCGAGCAGAAGCTGGAACTCCTTCAGCTCCTCCTTCTTCAGGAACTCCAAGTAACAGGCCAGGCGGCCCCAGGCTCCGCCAGCCATCTCTGTCCCGGAGTTAAGAGGGTGTCTGGGGGATGTTCCCAGGTGGTGAGGGTATCAGGCAGGCAGAGAACAGTGCTGTCCTTTGCCTTGGCTCTTACCGTCTCTTATTCAGCATTCGGAACCCAGTTTTATAAATCCCAGGGCACCTACAGATAGACGCCGATAGAGGGGGAGTGGTAGGAAAAGCCAGGGGAGGGAGGAGCCCAGAGGGGCCTGCAAGACACTGGAAGAAGTCAGCTGATAGGGAGGTCCTGGGATGGGGTCCAGGGCCAGGCAGGGAGGGTGAGGGTGAGGGGAGATGTGGTGACGGGAGATGGGGTGTGGGCAACGCTCACTGTTCTGTGTTCCTCAGATTCTTCCCTCTCCTGGGTCCTGGACTCCTGAGATCAACCCTTGAGCTGCAAGGCTGAGAAGAGGTGGGGTGGGAGGAGCCGCAGAGCAGGGAATGGGCTTTCAGAACCCAGAGTGGAGCCCCGGGCTGCTGGCTCCCAGGTTTCTTCAGACCTCTCCAGGCCCTGGGGCACCAGCCAGCAAGAACAGCGCCTAGTCAACAAGAGCAGGAAGGAAACGTCACCCAGAGGAAACCCACAAGGGGCGTGGCCAGGGGGTAGGATCAAACCAGGCCTGGGTAGGCCAGACTCAGAGTCACAGATTCAGATGGGCCACATGGCATCTATAGGCGGACCAGGAGCACAGGCCCAGACCAGCTGACGCTGCAGCAGGTACAGGCCCATACTAAACACGGTGTGTGCACCTCCACATGGGCACTCCGCCAGCCCATCATCTAGAGCCTGTCTGCAGAGCCAGGATGCAGACTCTCCGAGCAGTTGTGTCTGCAGCCCAGGCCCAGCCTCTCAGGATGGGTGGGGCCCCCTGTGTCTGCCCGGGCAGCTCCTTATTGGGAAACATTAGAACTGGGCCAGGGAGCATTTTTCCCAGCCTCTCATGGTTTTGGGAGCTTCTTGAGTTGCACTGCATGTCCTGCCATGCTACCAGGGGCACTAAAGCATGTGTCCCAGGCCCAGGGGGCTGTTTGCCTTCTGGGCAGCCCAGCACTTAGCTGGTGAACATTTCCACCTGAAAGCAGAACAGCCCCTTCCTCATTCCTGCAAGCAGGCCTCGGGGAGCCAGGGGCAGACTTCCTCTTTCGTGGAATCTGCAAGATGCCAATGACTTCAGGTTGAGGAATGACATTGCCTACTCATTTGCTGATGTAACACACCACCAGGAATTTCTGGAGATGCTTTGGTTTCACTTGGACTGGCAGAGCCCAGGCTTCAACCCACGGCTTGCTTGGACAAGGACTCCTTATGTGCCTGATTTATTTCTTTGAGCCTCAGTTTGCCCATCTATTAAATGGGACATCATAGGTTTACCAAGAGGCTTCAATTCAGCAAAAGGTCTTAGAGTCTCTCTCTCTTTCCCAGGCTGGAGTGCAGTGGCAAGATCTCGGCTCACTGCAAGCTCCCTCCACCTCCTGGGTTCCAGCGATTCTCCTGCATCAGCCCAGCTTCCTGGGCAGTTGGGATTACAGTCACTCACCACCACGCCTGGCTAATTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGTCTGATCCGAGGTGATCCGCCCACTTCGGCCTCCCGAAATGTTGGGATTACAGGTGTGAGCCTCCGTGCCTGGCCTAAATAAATTTTATAAATGTTAGTTTTAAAAAATGGCTAATAAGCACATTGTAGGACATTCTAATATCAGATTGACCAGAAGTGGAAAAGTGCTGTGCTAAAAGTGGGATGATCGGGAGGCTCTGAGCACTCCGTGAAG
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TCCTGGAAACAGTGCCTTGGACCAGTGGAGAGGCTCCAAGGGTGGGATTTCCTGAGGGAAATTTCAGATGTTTTCCAGAACCTCTGCTTAGCCTGCCAACCTGGTCCCCAGGGGACTCTTTGTCCATACATTTGCCTCTCCCACCTCACCACCCCGCCAGGAGCTCAGTAGGGTCTCACCTGTGTAGTAAATTCCTGACGTTTCATCCAGAGGCCATTGGGTCCCAGGAGCCTCCTGCTCTCTGGGTGCTAGGCTGGGCTGAGGTGGGGATCCCCAGCTCCCCAGCACTGCTGTGGATGTGGGGGCGTTGGGTGACTCCTGGCTTGGAGACTCATGGTCTGGGGAGCTTGGAAGAGCTTGGTAGAGGAGTGAGGCAGAGATTTCTGGGGGGAATGAAAAGAAAAATAACCATTTACTGAACATTTATTTTCTTTTAGGTGCATATATTTTAAACTCTCACAACAGTCCTGAGAGATGGGTCTTAATAATATTATTTTGAAAACCATGTTGAAGTAGAGGGGCAATTTTATTCTCTTAGTAGTGAAGAGAGAAGTCATGTGAGGGAGCTGGCTTGGGCCGAGGACTAAGCCTAGCCTCTTCTTGGGGTCTGTCTGGAAAACAGAGTCCTCCTTGGAACTTCTGGACCACCCTGACCCTAAGGATCTTCAGAGCCCATCAATATTATGAGCTGAGTTCTCGGGCAAGGACCATGTCACGAGTTGGGCACCCAGTTGGGGAAGACTCATTGCCTGACCCACATGGGTCTCAGCTTCCCCATCTGCCACATGGGGAGGGATGCAATCTCAGCACCGGAAGGTCCCTGAAAGATCAATTTCAGGCCTACCTCTCACAGCCCATCCTGGCTCCCCTATCCTTCCTCTGCTGTCCCCCATGTCAGGTCCCCATGCACAGACATGATCCTCTGGGTGGGGCCCACCAGCTGATTCACAGCTCCACCCAGGGCTGTCAGCCTGCCTCAGCAAGCCTCACCTCTCCAGCGGCGTCCAGATGTGTCAGGCAGCTGTCTCAAAACCCTTCTCTCTGAGCCCTGGGTGCACCCCGCCGGCAATTCATGGATCCAGGGCATTAGCACTGCGGTGGAGGTGGGTTGGCTGGGAGACCCCAGGTGGGGTTCACTTGGGCTGTAGGGGAATGAGGGAGAGTGGCCTACAGGAAAGAGACAAAGAGGTTGGAGACACATCAGAGGGGCAGGGGCAAGGTGCCAGGGAACTGAGCTGGTCTCCTCTCTCAACCAAGAGAGGTCAGGATACACCAGTGAACCCGCTGCAGCCCTCTACAACTTCCTCTAGAGGCTTGTCTGAAGAATGATGTTCTTATAGATACTGCTAGGCAAAAAATCCTCATCTAGGATCAGGAAATTTGCATATCTGTCTTGGTCCTGACTATCTCCCTGTGTAAATCACTACTCCTACTGAGCCTCAGCTGTGCTTTATTGGGCCAACGGCATCTGCAACCCAGGGTGGCTAATAGTAATAATAACAGCAGCAGCAGCAGCAGCAACAACAGCAATGGGAGATCTTATTTATTGAGCACTTACTGTATATCAGACTCTGTGCTAAATGTTTAACCTGGATGATCTCTTTTAACCCTCACACAGCCCAGGGAGGCGGGCTCTCACTCTCCCATTTTGCAGACAGAGAAATAGGCAGAGAGCAGTGAAGTGATTGGCCCAGGGTGATAGTGCCAGGACTGGTGATAGTGCCTGACTCCCAAGTCCGTGCTCATAACTACAATGCCAGGCGAGTACCGGGAATGCACTTGAATAGAAGAGGGTGTGGGGCTCTGAGGTGCAGCAAGGGCCCCCCCAGCAAGCCTCCTGGCTCCAGCATAGTCTGGGGCCTGGATCCCCCTTTGAGAGGGCAGTTCCATGTCACTGCTCAGAGGAAGGCCTGGCAGGGAGGGCTCAGTGGTGGGGTCCCAAGAGGGCAGGGCAGGCATGAGGGCCAGGGGATGTCCCGCGGGCAGTGGGGTCCTCTGTCCACTCACCTGCCCCTTCCTGGGCTTGGGCGCACAGTGACCTCAGCCCCGTCTGCTCCCAGGTATGGAGGGCTAGGTCCCAGGCCCGCTGCTCCCCATACTGAGCCACCAGGTACGAGGCCACCTCCATGCCACTCGTCTTCTCTGGCTGAGCGGGTGTCTCACCCGAAGAGCTCCTGGAGTGCGCTTTATTGGCGAGCAGAAGCTGGAACTCCTTCAGCTCCTCCTTCTTCAGGAACTCCAAGTAACAGGCCAGGCGGCCCCAGGCTCCGCCAGCCATCTCTGTCCCGGAGTTAAGAGGGTGTCTGGGGGATGTTCCCAGGTGGTGAGGGTATCAGGCAGGCAGAGAACAGTGCTGTCCTTTGCCTTGGCTCTTACCGTCTCTTATTCAGCATTCGGAACCCAGTTTTATAAATCCCAGGGCACCTACAGATAGACGCCGATAGAGGGGGAGTGGTAGGAAAAGCCAGGGGAGGGAGGAGCCCAGAGGGGCCTGCAAGACACTGGAAGAAGTCAGCTGATAGGGAGGTCCTGGGATGGGGTCCAGGGCCAGGCAGGGAGGGTGAGGGTGAGGGGAGATGTGGTGACGGGAGATGGGGTGTGGGCAACGCTCACTGTTCTGTGTTCCTCAGATTCTTCCCTCTCCTGGGTCCTGGACTCCTGAGATCAACCCTTGAGCTGCAAGGCTGAGAAGAGGTGGGGTGGGAGGAGCCGCAGAGCAGGGAATGGGCTTTCAGAACCCAGAGTGGAGCCCCGGGCTGCTGGCTCCCAGGTTTCTTCAGACCTCTCCAGGCCCTGGGGCACCAGCCAGCAAGAACAGCGCCTAGTCAACAAGAGCAGGAAGGAAACGTCACCCAGAGGAAACCCACAAGGGGCGTGGCCAGGGGGTAGGATCAAACCAGGCCTGGGTAGGCCAGACTCAGAGTCACAGATTCAGATGGGCCACATGGCATCTATAGGCGGACCAGGAGCACAGGCCCAGACCAGCTGACGCTGCAGCAGGTACAGGCCCATACTAAACACGGTGTGTGCACCTCCACATGGGCACTCCGCCAGCCCATCATCTAGAGCCTGTCTGCAGAGCCAGGATGCAGACTCTCCGAGCAGTTGTGTCTGCAGCCCAGGCCCAGCCTCTCAGGATGGGTGGGGCCCCCTGTGTCTGCCCGGGCAGCTCCTTATTGGGAAACATTAGAACTGGGCCAGGGAGCATTTTTCCCAGCCTCTCATGGTTTTGGGAGCTTCTTGAGTTGCACTGCATGTCCTGCCATGCTACCAGGGGCACTAAAGCATGTGTCCCAGGCCCAGGGGGCTGTTTGCCTTCTGGGCAGCCCAGCACTTAGCTGGTGAACATTTCCACCTGAAAGCAGAACAGCCCCTTCCTCATTCCTGCAAGCAGGCCTCGGGGAGCCAGGGGCAGACTTCCTCTTTCGTGGAATCTGCAAGATGCCAATGACTTCAGGTTGAGGAATGACATTGCCTACTCATTTGCTGATGTAACACACCACCAGGAATTTCTGGAGATGCTTTGGTTTCACTTGGACTGGCAGAGCCCAGGCTTCAACCCACGGCTTGCTTGGACAAGGACTCCTTATGTGCCTGATTTATTTCTTTGAGCCTCAGTTTGCCCATCTATTAAATGGGACATCATAGGTTTACCAAGAGGCTTCAATTCAGCAAAAGGTCTTAGAGTCTCTCTCTCTTTCCCAGGCTGGAGTGCAGTGGCAAGATCTCGGCTCACTGCAAGCTCCCTCCACCTCCTGGGTTCCAGCGATTCTCCTGCATCAGCCCAGCTTCCTGGGCAGTTGGGATTACAGTCACTCACCACCACGCCTGGCTAATTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGTCTGATCCGAGGTGATCCGCCCACTTCGGCCTCCCGAAATGTTGGGATTACAGGTGTGAGCCTCCGTGCCTGGCCTAAATAAATTTTATAAATGTTAGTTTTAAAAAATGGCTAATAAGCACATTGTAGGACATTCTAATATCAGATTGACCAGAAGTGGAAAAGTGCTGTGCTAAAAGTGGGATGATCGGGAGGCTCTGAGCACTCCGTGAAG
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Task1_train_23319
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An alteration has been detected in NLRP1 (NLR family pyrin domain containing 1) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
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TTTTCCAGAACCTCTGCTTAGCCTGCCAACCTGGTCCCCAGGGGACTCTTTGTCCATACATTTGCCTCTCCCACCTCACCACCCCGCCAGGAGCTCAGTAGGGTCTCACCTGTGTAGTAAATTCCTGACGTTTCATCCAGAGGCCATTGGGTCCCAGGAGCCTCCTGCTCTCTGGGTGCTAGGCTGGGCTGAGGTGGGGATCCCCAGCTCCCCAGCACTGCTGTGGATGTGGGGGCGTTGGGTGACTCCTGGCTTGGAGACTCATGGTCTGGGGAGCTTGGAAGAGCTTGGTAGAGGAGTGAGGCAGAGATTTCTGGGGGGAATGAAAAGAAAAATAACCATTTACTGAACATTTATTTTCTTTTAGGTGCATATATTTTAAACTCTCACAACAGTCCTGAGAGATGGGTCTTAATAATATTATTTTGAAAACCATGTTGAAGTAGAGGGGCAATTTTATTCTCTTAGTAGTGAAGAGAGAAGTCATGTGAGGGAGCTGGCTTGGGCCGAGGACTAAGCCTAGCCTCTTCTTGGGGTCTGTCTGGAAAACAGAGTCCTCCTTGGAACTTCTGGACCACCCTGACCCTAAGGATCTTCAGAGCCCATCAATATTATGAGCTGAGTTCTCGGGCAAGGACCATGTCACGAGTTGGGCACCCAGTTGGGGAAGACTCATTGCCTGACCCACATGGGTCTCAGCTTCCCCATCTGCCACATGGGGAGGGATGCAATCTCAGCACCGGAAGGTCCCTGAAAGATCAATTTCAGGCCTACCTCTCACAGCCCATCCTGGCTCCCCTATCCTTCCTCTGCTGTCCCCCATGTCAGGTCCCCATGCACAGACATGATCCTCTGGGTGGGGCCCACCAGCTGATTCACAGCTCCACCCAGGGCTGTCAGCCTGCCTCAGCAAGCCTCACCTCTCCAGCGGCGTCCAGATGTGTCAGGCAGCTGTCTCAAAACCCTTCTCTCTGAGCCCTGGGTGCACCCCGCCGGCAATTCATGGATCCAGGGCATTAGCACTGCGGTGGAGGTGGGTTGGCTGGGAGACCCCAGGTGGGGTTCACTTGGGCTGTAGGGGAATGAGGGAGAGTGGCCTACAGGAAAGAGACAAAGAGGTTGGAGACACATCAGAGGGGCAGGGGCAAGGTGCCAGGGAACTGAGCTGGTCTCCTCTCTCAACCAAGAGAGGTCAGGATACACCAGTGAACCCGCTGCAGCCCTCTACAACTTCCTCTAGAGGCTTGTCTGAAGAATGATGTTCTTATAGATACTGCTAGGCAAAAAATCCTCATCTAGGATCAGGAAATTTGCATATCTGTCTTGGTCCTGACTATCTCCCTGTGTAAATCACTACTCCTACTGAGCCTCAGCTGTGCTTTATTGGGCCAACGGCATCTGCAACCCAGGGTGGCTAATAGTAATAATAACAGCAGCAGCAGCAGCAGCAACAACAGCAATGGGAGATCTTATTTATTGAGCACTTACTGTATATCAGACTCTGTGCTAAATGTTTAACCTGGATGATCTCTTTTAACCCTCACACAGCCCAGGGAGGCGGGCTCTCACTCTCCCATTTTGCAGACAGAGAAATAGGCAGAGAGCAGTGAAGTGATTGGCCCAGGGTGATAGTGCCAGGACTGGTGATAGTGCCTGACTCCCAAGTCCGTGCTCATAACTACAATGCCAGGCGAGTACCGGGAATGCACTTGAATAGAAGAGGGTGTGGGGCTCTGAGGTGCAGCAAGGGCCCCCCCAGCAAGCCTCCTGGCTCCAGCATAGTCTGGGGCCTGGATCCCCCTTTGAGAGGGCAGTTCCATGTCACTGCTCAGAGGAAGGCCTGGCAGGGAGGGCTCAGTGGTGGGGTCCCAAGAGGGCAGGGCAGGCATGAGGGCCAGGGGATGTCCCGCGGGCAGTGGGGTCCTCTGTCCACTCACCTGCCCCTTCCTGGGCTTGGGCGCACAGTGACCTCAGCCCCATCTGCTCCCAGGTATGGAGGGCTAGGTCCCAGGCCCGCTGCTCCCCATACTGAGCCACCAGGTACGAGGCCACCTCCATGCCACTCGTCTTCTCTGGCTGAGCGGGTGTCTCACCCGAAGAGCTCCTGGAGTGCGCTTTATTGGCGAGCAGAAGCTGGAACTCCTTCAGCTCCTCCTTCTTCAGGAACTCCAAGTAACAGGCCAGGCGGCCCCAGGCTCCGCCAGCCATCTCTGTCCCGGAGTTAAGAGGGTGTCTGGGGGATGTTCCCAGGTGGTGAGGGTATCAGGCAGGCAGAGAACAGTGCTGTCCTTTGCCTTGGCTCTTACCGTCTCTTATTCAGCATTCGGAACCCAGTTTTATAAATCCCAGGGCACCTACAGATAGACGCCGATAGAGGGGGAGTGGTAGGAAAAGCCAGGGGAGGGAGGAGCCCAGAGGGGCCTGCAAGACACTGGAAGAAGTCAGCTGATAGGGAGGTCCTGGGATGGGGTCCAGGGCCAGGCAGGGAGGGTGAGGGTGAGGGGAGATGTGGTGACGGGAGATGGGGTGTGGGCAACGCTCACTGTTCTGTGTTCCTCAGATTCTTCCCTCTCCTGGGTCCTGGACTCCTGAGATCAACCCTTGAGCTGCAAGGCTGAGAAGAGGTGGGGTGGGAGGAGCCGCAGAGCAGGGAATGGGCTTTCAGAACCCAGAGTGGAGCCCCGGGCTGCTGGCTCCCAGGTTTCTTCAGACCTCTCCAGGCCCTGGGGCACCAGCCAGCAAGAACAGCGCCTAGTCAACAAGAGCAGGAAGGAAACGTCACCCAGAGGAAACCCACAAGGGGCGTGGCCAGGGGGTAGGATCAAACCAGGCCTGGGTAGGCCAGACTCAGAGTCACAGATTCAGATGGGCCACATGGCATCTATAGGCGGACCAGGAGCACAGGCCCAGACCAGCTGACGCTGCAGCAGGTACAGGCCCATACTAAACACGGTGTGTGCACCTCCACATGGGCACTCCGCCAGCCCATCATCTAGAGCCTGTCTGCAGAGCCAGGATGCAGACTCTCCGAGCAGTTGTGTCTGCAGCCCAGGCCCAGCCTCTCAGGATGGGTGGGGCCCCCTGTGTCTGCCCGGGCAGCTCCTTATTGGGAAACATTAGAACTGGGCCAGGGAGCATTTTTCCCAGCCTCTCATGGTTTTGGGAGCTTCTTGAGTTGCACTGCATGTCCTGCCATGCTACCAGGGGCACTAAAGCATGTGTCCCAGGCCCAGGGGGCTGTTTGCCTTCTGGGCAGCCCAGCACTTAGCTGGTGAACATTTCCACCTGAAAGCAGAACAGCCCCTTCCTCATTCCTGCAAGCAGGCCTCGGGGAGCCAGGGGCAGACTTCCTCTTTCGTGGAATCTGCAAGATGCCAATGACTTCAGGTTGAGGAATGACATTGCCTACTCATTTGCTGATGTAACACACCACCAGGAATTTCTGGAGATGCTTTGGTTTCACTTGGACTGGCAGAGCCCAGGCTTCAACCCACGGCTTGCTTGGACAAGGACTCCTTATGTGCCTGATTTATTTCTTTGAGCCTCAGTTTGCCCATCTATTAAATGGGACATCATAGGTTTACCAAGAGGCTTCAATTCAGCAAAAGGTCTTAGAGTCTCTCTCTCTTTCCCAGGCTGGAGTGCAGTGGCAAGATCTCGGCTCACTGCAAGCTCCCTCCACCTCCTGGGTTCCAGCGATTCTCCTGCATCAGCCCAGCTTCCTGGGCAGTTGGGATTACAGTCACTCACCACCACGCCTGGCTAATTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGTCTGATCCGAGGTGATCCGCCCACTTCGGCCTCCCGAAATGTTGGGATTACAGGTGTGAGCCTCCGTGCCTGGCCTAAATAAATTTTATAAATGTTAGTTTTAAAAAATGGCTAATAAGCACATTGTAGGACATTCTAATATCAGATTGACCAGAAGTGGAAAAGTGCTGTGCTAAAAGTGGGATGATCGGGAGGCTCTGAGCACTCCGTGAAGGACCGTGAGACTCCATGTAGCGGGAGGAATGGCCTGGAGGAGGGCTGTGTGGGCTTTTTTTCCTCCTCAC
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TTTTCCAGAACCTCTGCTTAGCCTGCCAACCTGGTCCCCAGGGGACTCTTTGTCCATACATTTGCCTCTCCCACCTCACCACCCCGCCAGGAGCTCAGTAGGGTCTCACCTGTGTAGTAAATTCCTGACGTTTCATCCAGAGGCCATTGGGTCCCAGGAGCCTCCTGCTCTCTGGGTGCTAGGCTGGGCTGAGGTGGGGATCCCCAGCTCCCCAGCACTGCTGTGGATGTGGGGGCGTTGGGTGACTCCTGGCTTGGAGACTCATGGTCTGGGGAGCTTGGAAGAGCTTGGTAGAGGAGTGAGGCAGAGATTTCTGGGGGGAATGAAAAGAAAAATAACCATTTACTGAACATTTATTTTCTTTTAGGTGCATATATTTTAAACTCTCACAACAGTCCTGAGAGATGGGTCTTAATAATATTATTTTGAAAACCATGTTGAAGTAGAGGGGCAATTTTATTCTCTTAGTAGTGAAGAGAGAAGTCATGTGAGGGAGCTGGCTTGGGCCGAGGACTAAGCCTAGCCTCTTCTTGGGGTCTGTCTGGAAAACAGAGTCCTCCTTGGAACTTCTGGACCACCCTGACCCTAAGGATCTTCAGAGCCCATCAATATTATGAGCTGAGTTCTCGGGCAAGGACCATGTCACGAGTTGGGCACCCAGTTGGGGAAGACTCATTGCCTGACCCACATGGGTCTCAGCTTCCCCATCTGCCACATGGGGAGGGATGCAATCTCAGCACCGGAAGGTCCCTGAAAGATCAATTTCAGGCCTACCTCTCACAGCCCATCCTGGCTCCCCTATCCTTCCTCTGCTGTCCCCCATGTCAGGTCCCCATGCACAGACATGATCCTCTGGGTGGGGCCCACCAGCTGATTCACAGCTCCACCCAGGGCTGTCAGCCTGCCTCAGCAAGCCTCACCTCTCCAGCGGCGTCCAGATGTGTCAGGCAGCTGTCTCAAAACCCTTCTCTCTGAGCCCTGGGTGCACCCCGCCGGCAATTCATGGATCCAGGGCATTAGCACTGCGGTGGAGGTGGGTTGGCTGGGAGACCCCAGGTGGGGTTCACTTGGGCTGTAGGGGAATGAGGGAGAGTGGCCTACAGGAAAGAGACAAAGAGGTTGGAGACACATCAGAGGGGCAGGGGCAAGGTGCCAGGGAACTGAGCTGGTCTCCTCTCTCAACCAAGAGAGGTCAGGATACACCAGTGAACCCGCTGCAGCCCTCTACAACTTCCTCTAGAGGCTTGTCTGAAGAATGATGTTCTTATAGATACTGCTAGGCAAAAAATCCTCATCTAGGATCAGGAAATTTGCATATCTGTCTTGGTCCTGACTATCTCCCTGTGTAAATCACTACTCCTACTGAGCCTCAGCTGTGCTTTATTGGGCCAACGGCATCTGCAACCCAGGGTGGCTAATAGTAATAATAACAGCAGCAGCAGCAGCAGCAACAACAGCAATGGGAGATCTTATTTATTGAGCACTTACTGTATATCAGACTCTGTGCTAAATGTTTAACCTGGATGATCTCTTTTAACCCTCACACAGCCCAGGGAGGCGGGCTCTCACTCTCCCATTTTGCAGACAGAGAAATAGGCAGAGAGCAGTGAAGTGATTGGCCCAGGGTGATAGTGCCAGGACTGGTGATAGTGCCTGACTCCCAAGTCCGTGCTCATAACTACAATGCCAGGCGAGTACCGGGAATGCACTTGAATAGAAGAGGGTGTGGGGCTCTGAGGTGCAGCAAGGGCCCCCCCAGCAAGCCTCCTGGCTCCAGCATAGTCTGGGGCCTGGATCCCCCTTTGAGAGGGCAGTTCCATGTCACTGCTCAGAGGAAGGCCTGGCAGGGAGGGCTCAGTGGTGGGGTCCCAAGAGGGCAGGGCAGGCATGAGGGCCAGGGGATGTCCCGCGGGCAGTGGGGTCCTCTGTCCACTCACCTGCCCCTTCCTGGGCTTGGGCGCACAGTGACCTCAGCCCCATCTGCTCCCAGGTATGGAGGGCTAGGTCCCAGGCCCGCTGCTCCCCATACTGAGCCACCAGGTACGAGGTCACCTCCATGCCACTCGTCTTCTCTGGCTGAGCGGGTGTCTCACCCGAAGAGCTCCTGGAGTGCGCTTTATTGGCGAGCAGAAGCTGGAACTCCTTCAGCTCCTCCTTCTTCAGGAACTCCAAGTAACAGGCCAGGCGGCCCCAGGCTCCGCCAGCCATCTCTGTCCCGGAGTTAAGAGGGTGTCTGGGGGATGTTCCCAGGTGGTGAGGGTATCAGGCAGGCAGAGAACAGTGCTGTCCTTTGCCTTGGCTCTTACCGTCTCTTATTCAGCATTCGGAACCCAGTTTTATAAATCCCAGGGCACCTACAGATAGACGCCGATAGAGGGGGAGTGGTAGGAAAAGCCAGGGGAGGGAGGAGCCCAGAGGGGCCTGCAAGACACTGGAAGAAGTCAGCTGATAGGGAGGTCCTGGGATGGGGTCCAGGGCCAGGCAGGGAGGGTGAGGGTGAGGGGAGATGTGGTGACGGGAGATGGGGTGTGGGCAACGCTCACTGTTCTGTGTTCCTCAGATTCTTCCCTCTCCTGGGTCCTGGACTCCTGAGATCAACCCTTGAGCTGCAAGGCTGAGAAGAGGTGGGGTGGGAGGAGCCGCAGAGCAGGGAATGGGCTTTCAGAACCCAGAGTGGAGCCCCGGGCTGCTGGCTCCCAGGTTTCTTCAGACCTCTCCAGGCCCTGGGGCACCAGCCAGCAAGAACAGCGCCTAGTCAACAAGAGCAGGAAGGAAACGTCACCCAGAGGAAACCCACAAGGGGCGTGGCCAGGGGGTAGGATCAAACCAGGCCTGGGTAGGCCAGACTCAGAGTCACAGATTCAGATGGGCCACATGGCATCTATAGGCGGACCAGGAGCACAGGCCCAGACCAGCTGACGCTGCAGCAGGTACAGGCCCATACTAAACACGGTGTGTGCACCTCCACATGGGCACTCCGCCAGCCCATCATCTAGAGCCTGTCTGCAGAGCCAGGATGCAGACTCTCCGAGCAGTTGTGTCTGCAGCCCAGGCCCAGCCTCTCAGGATGGGTGGGGCCCCCTGTGTCTGCCCGGGCAGCTCCTTATTGGGAAACATTAGAACTGGGCCAGGGAGCATTTTTCCCAGCCTCTCATGGTTTTGGGAGCTTCTTGAGTTGCACTGCATGTCCTGCCATGCTACCAGGGGCACTAAAGCATGTGTCCCAGGCCCAGGGGGCTGTTTGCCTTCTGGGCAGCCCAGCACTTAGCTGGTGAACATTTCCACCTGAAAGCAGAACAGCCCCTTCCTCATTCCTGCAAGCAGGCCTCGGGGAGCCAGGGGCAGACTTCCTCTTTCGTGGAATCTGCAAGATGCCAATGACTTCAGGTTGAGGAATGACATTGCCTACTCATTTGCTGATGTAACACACCACCAGGAATTTCTGGAGATGCTTTGGTTTCACTTGGACTGGCAGAGCCCAGGCTTCAACCCACGGCTTGCTTGGACAAGGACTCCTTATGTGCCTGATTTATTTCTTTGAGCCTCAGTTTGCCCATCTATTAAATGGGACATCATAGGTTTACCAAGAGGCTTCAATTCAGCAAAAGGTCTTAGAGTCTCTCTCTCTTTCCCAGGCTGGAGTGCAGTGGCAAGATCTCGGCTCACTGCAAGCTCCCTCCACCTCCTGGGTTCCAGCGATTCTCCTGCATCAGCCCAGCTTCCTGGGCAGTTGGGATTACAGTCACTCACCACCACGCCTGGCTAATTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGTCTGATCCGAGGTGATCCGCCCACTTCGGCCTCCCGAAATGTTGGGATTACAGGTGTGAGCCTCCGTGCCTGGCCTAAATAAATTTTATAAATGTTAGTTTTAAAAAATGGCTAATAAGCACATTGTAGGACATTCTAATATCAGATTGACCAGAAGTGGAAAAGTGCTGTGCTAAAAGTGGGATGATCGGGAGGCTCTGAGCACTCCGTGAAGGACCGTGAGACTCCATGTAGCGGGAGGAATGGCCTGGAGGAGGGCTGTGTGGGCTTTTTTTCCTCCTCAC
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Task1_train_23320
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Given a variant located on Chromosome 17 and affecting AIPL1 (AIP like 1 HSP90 co-chaperone), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not specified
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GTTTATTGATTTTCAGATTGTAGAATCAACCTATGGACAAAGCACAGAAGATTTAGTTTTGCTTACAGAGCAGAAGGTAGATGTTAACAACAAGGAAGATGGAAAAGTAAAGTACATCAGAACTTTAGGGATACAGTTAGCGCTGGGGGAACCCCTGCTGGGTGGAGACAAGCTCTGGGGCAGAAGAGAAGCCCAGGAAGCCCTTGGCAGTTGACTACGTGGCCCTGGGCTGGATACTTCGTCGCCCCCCTGCCCCACCCCACACACCTGGGTGGTGCTAGAGGATGTCGCTGGCGTGATAGCCCCTCCTCGTACCCGTCCTTTAGGGAGGACGAAGAGGAGGGAGAGAGTTGGAAGGGGAAGGTCCCAACGCTGCCATGCTCATCAGACACAGAAGGAGGTCACCAGACTGAGGCAGGCGGTGGAGCTTGGACACCAGACTAACTTGAAGATGAGCTAAAACAGGGGCGAGTGGAAGCGGCTTTCCCTAAGGCATGACCCCCAGGGTGCCATGTCAGTTTACCATTGCCGTGGCAACACCCTGGCATACTGCCCTGTTCCGTGGCAAAGACCCCAGGACCCAGAAGTTACTACTCCTTCCCTAGAAATCTTTGTATATGCAGCTCCTTAATCTACATGTAATTAAAAGTGGGTATAAATCTGACTGCAGAACTGCCCTGAGCTGCTGCTCGCTGCCTATGGGGTAGCCCTGCTCTGCAGGGCAGTCACAGAGCTGCAACACTGCAGCTTCAATACAGCTGTTTTGGTTTTGGTTTTGTTTGTTTTTCTTTTGTTTTTTGTTGTTGTTTTTGTTTTGTTTTGTTTTTTGAGATGAAGTTTTACTCTTGTTGACCAGGCTGGAGTGCAATGACGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCCGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCA
|
GTTTATTGATTTTCAGATTGTAGAATCAACCTATGGACAAAGCACAGAAGATTTAGTTTTGCTTACAGAGCAGAAGGTAGATGTTAACAACAAGGAAGATGGAAAAGTAAAGTACATCAGAACTTTAGGGATACAGTTAGCGCTGGGGGAACCCCTGCTGGGTGGAGACAAGCTCTGGGGCAGAAGAGAAGCCCAGGAAGCCCTTGGCAGTTGACTACGTGGCCCTGGGCTGGATACTTCGTCGCCCCCCTGCCCCACCCCACACACCTGGGTGGTGCTAGAGGATGTCGCTGGCGTGATAGCCCCTCCTCGTACCCGTCCTTTAGGGAGGACGAAGAGGAGGGAGAGAGTTGGAAGGGGAAGGTCCCAACGCTGCCATGCTCATCAGACACAGAAGGAGGTCACCAGACTGAGGCAGGCGGTGGAGCTTGGACACCAGACTAACTTGAAGATGAGCTAAAACAGGGGCGAGTGGAAGCGGCTTTCCCTAAGGCATGACCCCCAGGGTGCCATGTCAGTTTACCATTGCCGTGGCAACACCCTGGCATACTGCCCTGTTCCGTGGCAAAGACCCCAGGACCCAGAAGTTACTACTCCTTCCCTAGAAATCTTTGTATATGCAGCTCCTTAATCTACATGTAATTAAAAGTGGGTATAAATCTGACTGCAGAACTGCCCTGAGCTGCTGCTCGCTGCCTATGGGGTAGCCCTGCTCTGCAGGGCAGTCACAGAGCTGCAACACTGCAGCTTCAATACAGCTGTTTTGGTTTTGGTTTTGTTTGTTTTTCTTTTGTTTTTTGTTGTTGTTTTTGTTTTGTTTTGTTTTTTGAGATGAAGTTTTACTCTTGTTGACCAGGCTGGAGTGCAATGACGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCGGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCA
|
Task1_train_23321
|
A variant on Chromosome 17 in gene AIPL1 (AIP like 1 HSP90 co-chaperone) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Leber congenital amaurosis
|
CACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCCGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCCGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGG
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CACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCCGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCGCTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCCGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGG
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Task1_train_23322
|
Consider this mutation in AIPL1 (AIP like 1 HSP90 co-chaperone) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Leber congenital amaurosis 4
|
CACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCCGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCCGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGG
|
CACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCCGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCGCTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCCGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGG
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Task1_train_23323
|
An alteration has been detected in AIPL1 (AIP like 1 HSP90 co-chaperone) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Leber congenital amaurosis 4
|
ACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCCGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCCGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGGATGGGGAAACTACAGCCCAGAGACGCAAAGCAACTTGCTTAAGGTCACACAGCTAGGAAATGACGCAGCCAGGATTCAAACCTGGCTCCAGAGGCCATATGCTGTTAGCCTCCGGCTGCCTCTTCTGGCCCTTGTGGTCCACTGTAACACATCTCTGCCCCAGGGAAACCCTGACCTCTGCAAAGCCTATGACTCGCAGGAAGGGCAGTGTGGGGCAGTAGAAGGAGCAGGACTCCAGGGTCCAAGAGAG
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ACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCCGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGGCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCCGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGGATGGGGAAACTACAGCCCAGAGACGCAAAGCAACTTGCTTAAGGTCACACAGCTAGGAAATGACGCAGCCAGGATTCAAACCTGGCTCCAGAGGCCATATGCTGTTAGCCTCCGGCTGCCTCTTCTGGCCCTTGTGGTCCACTGTAACACATCTCTGCCCCAGGGAAACCCTGACCTCTGCAAAGCCTATGACTCGCAGGAAGGGCAGTGTGGGGCAGTAGAAGGAGCAGGACTCCAGGGTCCAAGAGAG
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Task1_train_23324
|
Gene AIPL1 (AIP like 1 HSP90 co-chaperone), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Leber congenital amaurosis 4
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ACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCCGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGGATGGGGAAACTACAGCCCAGAGACGCAAAGCAACTTGCTTAAGGTCACACAGCTAGGAAATGACGCAGCCAGGATTCAAACCTGGCTCCAGAGGCCATATGCTGTTAGCCTCCGGCTGCCTCTTCTGGCCCTTGTGGTCCACTGTAACACATCTCTGCCCCAGGGAAACCCTGACCTCTGCAAAGCCTATGACTCGCAGGAAGGGCAGTGTGGGGCAGTAGAAGGAGCAGGACTCCAGGGTCCAAGAGAGTCGCTTTGGTGTCCTGGCAGTGCTGCAGGTTAGCGGTGAGCCCAGGTCTCTGCACTTCTCTGAAACTCAGTTCCCTGGGTTGCTCCTGTTCGATATTAGGGCTGCTGTAGGGATTAAATGAGATGGTGCAGATATAGATCTGGCTCATCACAGCTTCAGCCAGCATGGGAGCTGAGTTTGCCACCCTTGGGATGAAGGAGGGCTGGGAAGATCCGCCGTGCGGCCTCAGCGAGGCCTGCTGTATGTATGCTGGGCCTCAGTTTCCCCAACTAGGCTCCCTGAGAACCCATCTCCTTGGACCGGCTTCTGAGATGACCCAGCACTGGCCCCACATGCAACATGTGAAGTGAAGGGGCTGAAACTCTATGCAGCAGTTCAGCTCTGCCTCCAGGTCACCAGCACAGAGACAGAGGTCACCCTGCCCGCCCCACCGGCCGGGATTAGCCCGAAATGCCTTCTGCCTCTTTATGGAAGAGACAAGCAGATGGCTGTTGAGCCTGTTGGGATTAGAGCTGGACCAAGGGAGGGAGAGGCCCCAGAACCAGCTTACTGCAGGGAGGGGCCACCTTTGGCCCTGACTCAGCAGCCCCCAGCTCGGCACCCCATGGCTCCCAGCAAGCTGAGCGTGCTTTTGTGGCCCCAAAGCACACTGCCCTCACTTATTTATGTCCTGGCACTGGCTGCCCTGCATTACAATTGTTTAGGTGTCTGCTCCTCCTGCAGAATTCAAGTTCCCTAAGGGCTAGGGGCTTTGCCTGTTTCACTCCTAACATACAGCACAGGCCAAATCAGGTGCCCAGTGAATGTTTTCTAACTAGATAGGTAGGTAGGTAGGTAGGTAGGTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAATAGATACACGAATGATAGGAGATAGATAGAAGATGATGGATGCATGCATAGTGACGGAAGACTGGATTATGAATGAAGATTGGTTGAAGGGAAGAATGGATGAAATGATGCCCGGGCAGGTGGGTAGATGGATAAGAGGTGGATGTGCAGGTGAAGAACTAACTCTAGAAGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGCGTACATGCACACAATCACGGCAGCCATGGGCTGGGGTGAGGAGATGTGCGGGGCATGGAGATTAGGAAAACCCATAGTTACCATGGGGAGCAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGTCAAGGCCAGTGGCTCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGTTGAAATCCCATCTCTACTAAAAATACAAAAATTGGCCCGGTGTGGTGGTGAGCACCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAATCCCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAAGTCCGTCTCAAAAAAAAAA
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ACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCTGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGGATGGGGAAACTACAGCCCAGAGACGCAAAGCAACTTGCTTAAGGTCACACAGCTAGGAAATGACGCAGCCAGGATTCAAACCTGGCTCCAGAGGCCATATGCTGTTAGCCTCCGGCTGCCTCTTCTGGCCCTTGTGGTCCACTGTAACACATCTCTGCCCCAGGGAAACCCTGACCTCTGCAAAGCCTATGACTCGCAGGAAGGGCAGTGTGGGGCAGTAGAAGGAGCAGGACTCCAGGGTCCAAGAGAGTCGCTTTGGTGTCCTGGCAGTGCTGCAGGTTAGCGGTGAGCCCAGGTCTCTGCACTTCTCTGAAACTCAGTTCCCTGGGTTGCTCCTGTTCGATATTAGGGCTGCTGTAGGGATTAAATGAGATGGTGCAGATATAGATCTGGCTCATCACAGCTTCAGCCAGCATGGGAGCTGAGTTTGCCACCCTTGGGATGAAGGAGGGCTGGGAAGATCCGCCGTGCGGCCTCAGCGAGGCCTGCTGTATGTATGCTGGGCCTCAGTTTCCCCAACTAGGCTCCCTGAGAACCCATCTCCTTGGACCGGCTTCTGAGATGACCCAGCACTGGCCCCACATGCAACATGTGAAGTGAAGGGGCTGAAACTCTATGCAGCAGTTCAGCTCTGCCTCCAGGTCACCAGCACAGAGACAGAGGTCACCCTGCCCGCCCCACCGGCCGGGATTAGCCCGAAATGCCTTCTGCCTCTTTATGGAAGAGACAAGCAGATGGCTGTTGAGCCTGTTGGGATTAGAGCTGGACCAAGGGAGGGAGAGGCCCCAGAACCAGCTTACTGCAGGGAGGGGCCACCTTTGGCCCTGACTCAGCAGCCCCCAGCTCGGCACCCCATGGCTCCCAGCAAGCTGAGCGTGCTTTTGTGGCCCCAAAGCACACTGCCCTCACTTATTTATGTCCTGGCACTGGCTGCCCTGCATTACAATTGTTTAGGTGTCTGCTCCTCCTGCAGAATTCAAGTTCCCTAAGGGCTAGGGGCTTTGCCTGTTTCACTCCTAACATACAGCACAGGCCAAATCAGGTGCCCAGTGAATGTTTTCTAACTAGATAGGTAGGTAGGTAGGTAGGTAGGTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAATAGATACACGAATGATAGGAGATAGATAGAAGATGATGGATGCATGCATAGTGACGGAAGACTGGATTATGAATGAAGATTGGTTGAAGGGAAGAATGGATGAAATGATGCCCGGGCAGGTGGGTAGATGGATAAGAGGTGGATGTGCAGGTGAAGAACTAACTCTAGAAGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGCGTACATGCACACAATCACGGCAGCCATGGGCTGGGGTGAGGAGATGTGCGGGGCATGGAGATTAGGAAAACCCATAGTTACCATGGGGAGCAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGTCAAGGCCAGTGGCTCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGTTGAAATCCCATCTCTACTAAAAATACAAAAATTGGCCCGGTGTGGTGGTGAGCACCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAATCCCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAAGTCCGTCTCAAAAAAAAAA
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Task1_train_23325
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This sequence change occurs on Chromosome 17, altering AIPL1 (AIP like 1 HSP90 co-chaperone). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Leber congenital amaurosis 4
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CAGACTTTTGAAAAAGAGAGAAAGAGAGAGAGAAGAATCTGAATCTTATCAGGCCCTCTAGACCCCACTTTCAATTTATCAAAAATGTGGGGAATAGAGGAGCATGTTAGACAATTCCATGGCGAAGGAACCAGGAAAATCAGAATGTGGGACTTCTACAGGATAAATGACCCAGTTCCTTCAACACTTCCATGTCAAGGAAGAAAAGAAGAAAAGAAGGAGGCCGAGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCAGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATTCTGATCAACATGGTGAAACCCTGTCTGTACTAAAATACAAAAAATTACCCAGGCGTGGTGGCGGGCACCTGTAGTCGTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCCAAGGTTGCAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGCTACAGAGCAAGACTCCGTCTCAAAAAAAAAAAGAAAGAAAGAAAAGAAGGAAGTAGACCTATAGATAAAAAGGCACTTGAGAGACGCATCAACAAAGCGCTATGCAGAGACTTTGTTTGTTCGGTTGTTGATTTAAACAAACCAAACTCATTCATTTATAAAGAATAAAAGGAGTCAACCAAAGAAAATTCAACAGTGACTGGATATTAGACGGCTTTAAGGAATTACTGGAGTTTTTAAAAGATTTCATAATGGTACAATGGTAAAGTTTCTTTAATATCCTCTTTTTTTTTTTTTAAGATGGAGTCTCACTCTGTCGCCAGACTGGAGTTCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCCAACTCCTGACCTCGTGATCTGCCCGCCTCAGTCTCCCAAAGTGCTGGGATATCCTCATATTTTAGAGATACAAATTTTAGTATTTACAGATGAAATGATATGGTGTCTGGCATTTGGTTTAACCACGCAGGACAAGGAAGGGAAGTGGGTGGGTTGGGAGATGAAGCAAGACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCACCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGACCTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCAGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCATGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCA
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CAGACTTTTGAAAAAGAGAGAAAGAGAGAGAGAAGAATCTGAATCTTATCAGGCCCTCTAGACCCCACTTTCAATTTATCAAAAATGTGGGGAATAGAGGAGCATGTTAGACAATTCCATGGCGAAGGAACCAGGAAAATCAGAATGTGGGACTTCTACAGGATAAATGACCCAGTTCCTTCAACACTTCCATGTCAAGGAAGAAAAGAAGAAAAGAAGGAGGCCGAGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCAGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATTCTGATCAACATGGTGAAACCCTGTCTGTACTAAAATACAAAAAATTACCCAGGCGTGGTGGCGGGCACCTGTAGTCGTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCCAAGGTTGCAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGCTACAGAGCAAGACTCCGTCTCAAAAAAAAAAAGAAAGAAAGAAAAGAAGGAAGTAGACCTATAGATAAAAAGGCACTTGAGAGACGCATCAACAAAGCGCTATGCAGAGACTTTGTTTGTTCGGTTGTTGATTTAAACAAACCAAACTCATTCATTTATAAAGAATAAAAGGAGTCAACCAAAGAAAATTCAACAGTGACTGGATATTAGACGGCTTTAAGGAATTACTGGAGTTTTTAAAAGATTTCATAATGGTACAATGGTAAAGTTTCTTTAATATCCTCTTTTTTTTTTTTTAAGATGGAGTCTCACTCTGTCGCCAGACTGGAGTTCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCCAACTCCTGACCTCGTGATCTGCCCGCCTCAGTCTCCCAAAGTGCTGGGATATCCTCATATTTTAGAGATACAAATTTTAGTATTTACAGATGAAATGATATGGTGTCTGGCATTTGGTTTAACCACGCAGGACAAGGAAGGGAAGTGGGTGGGTTGGGAGATGAAGCAAGACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCGCCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGACCTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCAGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCATGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCA
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Task1_train_23326
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A variant found in Chromosome 17 affects AIPL1 (AIP like 1 HSP90 co-chaperone). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Leber congenital amaurosis 4
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CCTCTAGACCCCACTTTCAATTTATCAAAAATGTGGGGAATAGAGGAGCATGTTAGACAATTCCATGGCGAAGGAACCAGGAAAATCAGAATGTGGGACTTCTACAGGATAAATGACCCAGTTCCTTCAACACTTCCATGTCAAGGAAGAAAAGAAGAAAAGAAGGAGGCCGAGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCAGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATTCTGATCAACATGGTGAAACCCTGTCTGTACTAAAATACAAAAAATTACCCAGGCGTGGTGGCGGGCACCTGTAGTCGTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCCAAGGTTGCAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGCTACAGAGCAAGACTCCGTCTCAAAAAAAAAAAGAAAGAAAGAAAAGAAGGAAGTAGACCTATAGATAAAAAGGCACTTGAGAGACGCATCAACAAAGCGCTATGCAGAGACTTTGTTTGTTCGGTTGTTGATTTAAACAAACCAAACTCATTCATTTATAAAGAATAAAAGGAGTCAACCAAAGAAAATTCAACAGTGACTGGATATTAGACGGCTTTAAGGAATTACTGGAGTTTTTAAAAGATTTCATAATGGTACAATGGTAAAGTTTCTTTAATATCCTCTTTTTTTTTTTTTAAGATGGAGTCTCACTCTGTCGCCAGACTGGAGTTCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCCAACTCCTGACCTCGTGATCTGCCCGCCTCAGTCTCCCAAAGTGCTGGGATATCCTCATATTTTAGAGATACAAATTTTAGTATTTACAGATGAAATGATATGGTGTCTGGCATTTGGTTTAACCACGCAGGACAAGGAAGGGAAGTGGGTGGGTTGGGAGATGAAGCAAGACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCACCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGACCTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCAGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCATGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCAGCCCCGCTCCTGCCTCCCCTGCAAGGTCTGGCTGGGGGAAGGGTGGGTATCCCC
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CCTCTAGACCCCACTTTCAATTTATCAAAAATGTGGGGAATAGAGGAGCATGTTAGACAATTCCATGGCGAAGGAACCAGGAAAATCAGAATGTGGGACTTCTACAGGATAAATGACCCAGTTCCTTCAACACTTCCATGTCAAGGAAGAAAAGAAGAAAAGAAGGAGGCCGAGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCAGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATTCTGATCAACATGGTGAAACCCTGTCTGTACTAAAATACAAAAAATTACCCAGGCGTGGTGGCGGGCACCTGTAGTCGTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCCAAGGTTGCAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGCTACAGAGCAAGACTCCGTCTCAAAAAAAAAAAGAAAGAAAGAAAAGAAGGAAGTAGACCTATAGATAAAAAGGCACTTGAGAGACGCATCAACAAAGCGCTATGCAGAGACTTTGTTTGTTCGGTTGTTGATTTAAACAAACCAAACTCATTCATTTATAAAGAATAAAAGGAGTCAACCAAAGAAAATTCAACAGTGACTGGATATTAGACGGCTTTAAGGAATTACTGGAGTTTTTAAAAGATTTCATAATGGTACAATGGTAAAGTTTCTTTAATATCCTCTTTTTTTTTTTTTAAGATGGAGTCTCACTCTGTCGCCAGACTGGAGTTCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCCAACTCCTGACCTCGTGATCTGCCCGCCTCAGTCTCCCAAAGTGCTGGGATATCCTCATATTTTAGAGATACAAATTTTAGTATTTACAGATGAAATGATATGGTGTCTGGCATTTGGTTTAACCACGCAGGACAAGGAAGGGAAGTGGGTGGGTTGGGAGATGAAGCAAGACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCACCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGAACTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCAGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCATGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCAGCCCCGCTCCTGCCTCCCCTGCAAGGTCTGGCTGGGGGAAGGGTGGGTATCCCC
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Task1_train_23327
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Here is a variant affecting AIPL1 (AIP like 1 HSP90 co-chaperone) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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GGGAGATGAAGCAAGACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCACCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGACCTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCAGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCATGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCAGCCCCGCTCCTGCCTCCCCTGCAAGGTCTGGCTGGGGGAAGGGTGGGTATCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTTGGAGGCCCTTAGCCCTGTGCCCTGGGAACCAGGCAGAGTTTATTGAGGGCATCAGGGACGCCCAGAAGGGCTGGGAAACATAAATGCGAAGACCTGGTGTTTGGCACCACCGTGTGGCCAGTTCAAGCTCCTACACCTCCGCACCCTGAGGGCACTGGACTCAGCTCCACGAAACCATTCTCTTCCTGACACCAGGCTCACCGGTTGCAGAGGGAAGGGGTGCAGGACTCTGCTACAGGGAGAGATAAAAACACGGGACTAAGGAGGCTGAAGTAGGTGGATCACCTGAGGTCAGGAGTTTTGTATTTTTAGTAGTCTGTACTAAAAATACAAAAATTACCCAGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGCCTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGAGCAACACAGCGAGACTCTGTCTCAAAAAAACAAAACAAAACAAAAAATGCTAGACTAGGCTGGGTGCAGTGGCTCATGGCTGTAATCCTAGGACTTTGGGAGCCAAGGCAGGTGGATCACCTCAGATCAGGAGTTAGAGACCAGCCTGGCCAACATGATGAATCCCCATCTCTACTAAAATTACAAAACTTAGTCGGATGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAATCCAGGAGATGAAGGTTGCTGTGCACCAAGATCATGCTGCTGCACTCCAGCCTGGGGCACAGAGTGAGACTGTGTCAGAAGAAGAAGAAGAAGGAGAAGGAAGAGGAGGAGGAGGAGGAGGAGGGAAGAGGGAAGAGGGAAGAGGGAAGAAGAAGGAAGAAGAAGAAGAAGACTGGACTGAGCCAGATACAGCTAAGTTCAAAGGGCTGATCCTTTCCTATTTACTGACCTTGTTGCCTTGGATGTCTCTCGTTTTCTCTAACTGCATTTTCCCAACTGAAATGAGAAAATTGACCTCTCCTGCTCCTTCTCAGGGGAAGT
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GGGAGATGAAGCAAGACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCACCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGACCTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCGGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCATGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCAGCCCCGCTCCTGCCTCCCCTGCAAGGTCTGGCTGGGGGAAGGGTGGGTATCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTTGGAGGCCCTTAGCCCTGTGCCCTGGGAACCAGGCAGAGTTTATTGAGGGCATCAGGGACGCCCAGAAGGGCTGGGAAACATAAATGCGAAGACCTGGTGTTTGGCACCACCGTGTGGCCAGTTCAAGCTCCTACACCTCCGCACCCTGAGGGCACTGGACTCAGCTCCACGAAACCATTCTCTTCCTGACACCAGGCTCACCGGTTGCAGAGGGAAGGGGTGCAGGACTCTGCTACAGGGAGAGATAAAAACACGGGACTAAGGAGGCTGAAGTAGGTGGATCACCTGAGGTCAGGAGTTTTGTATTTTTAGTAGTCTGTACTAAAAATACAAAAATTACCCAGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGCCTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGAGCAACACAGCGAGACTCTGTCTCAAAAAAACAAAACAAAACAAAAAATGCTAGACTAGGCTGGGTGCAGTGGCTCATGGCTGTAATCCTAGGACTTTGGGAGCCAAGGCAGGTGGATCACCTCAGATCAGGAGTTAGAGACCAGCCTGGCCAACATGATGAATCCCCATCTCTACTAAAATTACAAAACTTAGTCGGATGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAATCCAGGAGATGAAGGTTGCTGTGCACCAAGATCATGCTGCTGCACTCCAGCCTGGGGCACAGAGTGAGACTGTGTCAGAAGAAGAAGAAGAAGGAGAAGGAAGAGGAGGAGGAGGAGGAGGAGGGAAGAGGGAAGAGGGAAGAGGGAAGAAGAAGGAAGAAGAAGAAGAAGACTGGACTGAGCCAGATACAGCTAAGTTCAAAGGGCTGATCCTTTCCTATTTACTGACCTTGTTGCCTTGGATGTCTCTCGTTTTCTCTAACTGCATTTTCCCAACTGAAATGAGAAAATTGACCTCTCCTGCTCCTTCTCAGGGGAAGT
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Task1_train_23328
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Here’s a variant in AIPL1 (AIP like 1 HSP90 co-chaperone) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Leber congenital amaurosis 4
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TGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCACCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGACCTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCAGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCATGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCAGCCCCGCTCCTGCCTCCCCTGCAAGGTCTGGCTGGGGGAAGGGTGGGTATCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTTGGAGGCCCTTAGCCCTGTGCCCTGGGAACCAGGCAGAGTTTATTGAGGGCATCAGGGACGCCCAGAAGGGCTGGGAAACATAAATGCGAAGACCTGGTGTTTGGCACCACCGTGTGGCCAGTTCAAGCTCCTACACCTCCGCACCCTGAGGGCACTGGACTCAGCTCCACGAAACCATTCTCTTCCTGACACCAGGCTCACCGGTTGCAGAGGGAAGGGGTGCAGGACTCTGCTACAGGGAGAGATAAAAACACGGGACTAAGGAGGCTGAAGTAGGTGGATCACCTGAGGTCAGGAGTTTTGTATTTTTAGTAGTCTGTACTAAAAATACAAAAATTACCCAGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGCCTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGAGCAACACAGCGAGACTCTGTCTCAAAAAAACAAAACAAAACAAAAAATGCTAGACTAGGCTGGGTGCAGTGGCTCATGGCTGTAATCCTAGGACTTTGGGAGCCAAGGCAGGTGGATCACCTCAGATCAGGAGTTAGAGACCAGCCTGGCCAACATGATGAATCCCCATCTCTACTAAAATTACAAAACTTAGTCGGATGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAATCCAGGAGATGAAGGTTGCTGTGCACCAAGATCATGCTGCTGCACTCCAGCCTGGGGCACAGAGTGAGACTGTGTCAGAAGAAGAAGAAGAAGGAGAAGGAAGAGGAGGAGGAGGAGGAGGAGGGAAGAGGGAAGAGGGAAGAGGGAAGAAGAAGGAAGAAGAAGAAGAAGACTGGACTGAGCCAGATACAGCTAAGTTCAAAGGGCTGATCCTTTCCTATTTACTGACCTTGTTGCCTTGGATGTCTCTCGTTTTCTCTAACTGCATTTTCCCAACTGAAATGAGAAAATTGACCTCTCCTGCTCCTTCTCAGGGGAAGTTGGGAGGGCTGCAGCAGTGAATGGCACCCTGAAATCCGGCACTCATGA
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TGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCACCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGACCTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCAGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCGTGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCAGCCCCGCTCCTGCCTCCCCTGCAAGGTCTGGCTGGGGGAAGGGTGGGTATCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTTGGAGGCCCTTAGCCCTGTGCCCTGGGAACCAGGCAGAGTTTATTGAGGGCATCAGGGACGCCCAGAAGGGCTGGGAAACATAAATGCGAAGACCTGGTGTTTGGCACCACCGTGTGGCCAGTTCAAGCTCCTACACCTCCGCACCCTGAGGGCACTGGACTCAGCTCCACGAAACCATTCTCTTCCTGACACCAGGCTCACCGGTTGCAGAGGGAAGGGGTGCAGGACTCTGCTACAGGGAGAGATAAAAACACGGGACTAAGGAGGCTGAAGTAGGTGGATCACCTGAGGTCAGGAGTTTTGTATTTTTAGTAGTCTGTACTAAAAATACAAAAATTACCCAGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGCCTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGAGCAACACAGCGAGACTCTGTCTCAAAAAAACAAAACAAAACAAAAAATGCTAGACTAGGCTGGGTGCAGTGGCTCATGGCTGTAATCCTAGGACTTTGGGAGCCAAGGCAGGTGGATCACCTCAGATCAGGAGTTAGAGACCAGCCTGGCCAACATGATGAATCCCCATCTCTACTAAAATTACAAAACTTAGTCGGATGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAATCCAGGAGATGAAGGTTGCTGTGCACCAAGATCATGCTGCTGCACTCCAGCCTGGGGCACAGAGTGAGACTGTGTCAGAAGAAGAAGAAGAAGGAGAAGGAAGAGGAGGAGGAGGAGGAGGAGGGAAGAGGGAAGAGGGAAGAGGGAAGAAGAAGGAAGAAGAAGAAGAAGACTGGACTGAGCCAGATACAGCTAAGTTCAAAGGGCTGATCCTTTCCTATTTACTGACCTTGTTGCCTTGGATGTCTCTCGTTTTCTCTAACTGCATTTTCCCAACTGAAATGAGAAAATTGACCTCTCCTGCTCCTTCTCAGGGGAAGTTGGGAGGGCTGCAGCAGTGAATGGCACCCTGAAATCCGGCACTCATGA
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Task1_train_23329
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Here is a genetic alteration in KIAA0753 (KIAA0753) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Joubert syndrome 38
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AGCTTTAATTCACTAGGTAATGGCTTTGTCTTGTATTCTCCATAAATCCTAACGAAACTAGGTAATAGTAAGCATTACTTCCAATGCACCTCTAACAAAAATTGGAATTAATTCCATACCTCAATTTGTTGCAGAATATCTATAACCACATCAGGAACAGAAGGGTCTGCATCCAGCTTGACAGAACAAAGTGAAAGCTGGCGAATAAGGCTGCCCAGTTCCTTACACCGAGCAGGAAGTGGATGCTCCCCTCGGTCAGTAAACTGAGTGACAAACATCTGTAAGGCCCGAATGGCTCCTCGATGGGCAGCCGCCAGCTTAGACATTGCCCATGACTGGTAATAAACAAGATGAGAGAAGTTATTTCCATACTCAGAACTTGCTAACATTCACCCAACTTCTAAGAATATTTATAGCCTGTCTTCTTTCTGTATAAAGTGCTTTCTATTGTGAAAACTTTTTCATAGTAAAGGGAGTTGTAAAGTTTAAAGTTTTCTAGTGGCAGTCTTTTCCTTACTACTTCCAATTTTTTATACCAGCAGCAACAACAACAAAAATCTATTTTTTAGAACCTGTTCCTTAGAAGGCAACCATATTCAGAATATGTAAGGTGCTCACTCCCTCACTAACAGGTTTCTGCAAGTACTGAAAATAACATTAGTGCAGAGGGCCCTACACAATACTAACAAAACACTGGGAAATGTCATTTATAAGCAAGTATTGATCATAATTTAATTGCAGCATACCTTCTTAGTGTGTTTAATTTTATGTGGACTCAATTTATCCAATTCTTCCTGGATTTCTTTTACCTGTTTTGTAAAGGGGAAAAAAGAAAACTTCATACCTTTCCATTGATCTTTTTTGTAGAAAAGGATGCATCGATATATCTCCTCTTGTCCAAATATAACCATTATTAATTCAAGTCACTTGAAAATGAAAAAAAGGCTCTTCATTCATGCACCCAAAAAACAGTTACTGGTTTCCAGTTCAAGATAGTGAATAGGCAGTGTTCACCTTCCATCCCTTCGTCCCCAGTGTAATAGGAATTTAGCATGAAGGAGTGAAGGTGGAGGTGACTCTGGAAATGTAGGCGGGCCGGATCGTGAAGTCTTACATGCCACGCTGAAGAGTTTAGCTTTCATCCTCTAAGTTACAGAGAGCCACTAAAGTCTTTTAAGCAGAGGTCTGACATGGTAAGATTCATGTTTTAGAGCAATCTCTACGGCAGCAGTGTAGAATAAGAACTGAAATAGAACCCAAAAGAATACACTGCAAAACCTAACTCAGGCATTTTCTTTTAAATGAAAAAGTACAGCTTTTGGTTCAAGCAATAAAGGCTAACATGTGACTTCAGTGACCAGAAATGAGTAAAAGGCTTACTAATGTATAAGGCATGAAAGTCACAACAAACACTTTTTAAAAATCCATCACAATGTAAAGAACGTAAATGCCTGTGTATCCGCTACTAAAGATGTCCTCAAAGACACTTAACATGGTCTTTACTCTTTGCTGTTTACCAAATTATTTACTATTACAAGCTTCTATACATTATAAACATGAAATAGATGGGAAACTAACAAGGTCCCTTTCCTCTAAGACTGGGGTCCATAGCTAGGACCAAGGGTTCAGGGTAACTGATCCACCTGACTTCCCATGCAAAAATATGTGCTATATAATGTATAAGCATCTTGGGGGTGGGGAGGAGTGGCTTTTAATAGATTCTCAAAGGTCTATGACCTCATAAAGTCAAGAACCAGTTTAAGGAGTTTGGCGCCACACACACACACACACACACACACACACACACACGCAGATTACAAAAAGAAAGAGAATTATTTGCCCATGTGTTCAGGTAATTGAGCCTCACAAATCTGTCAGAACTCATATGGGATACTCTAGTGCTAATCTTTCTGAGACAAAAGGAAAACAGAAACTCTCTAAGGAAGCAGTACACAAGGCTGACTGCCCTACTTCTCCCTGAACTTTTCACACCTGCTGCTGGAGGACGTAGAGCATTCGGGCAGAGCGAGCAGCTTGCTCCTGTCTCCTGATACGGATTCGACGTTCTTCATCTGGATCCAAAGCTTCTTCTAGTCTATCTGAAAATATTAATAGTTTTCCCCAAAAGTGGATTATAAACCATATATTAAAACTTACAAAGACTTCAATTACTTACAGAAATAATAAAGTTGAAGATCTCTGGTTTTATTAAGAAAAAAATGAGGCTATCATAACAGAAAATTTCATTTTTCATCAGCCAAGAAACCAGCAGTAAGTGGAGCTGTGTACTGACTGAGAGATGGAAGGGACATAAAGACATTTACTCCATCAAGCTCCCCTCCAGCCAGAATTCCCACTGGACAGCGATTTCACTATGAGGCACCTCTTACTATTTTAGAATTCCTTATATTGAGCCAAAATCTGTTATTCTTGCTATTTTTTCAAAAACTTTTTATTGGCCTGTTTTTATGTTTAGCAAGATTAGTTTTACAATGTAAAGAAGGTATTAATAAATGCCTATTGATCAGCCACTAAATATGTCCTGAAAGACACTTAACATGGTCTTTAGTCTTTGCTGTTTAATAGAGAATAATCAAATGTTGAATTCAAAAGAGAAATCCTGGCCAGGAGTGGTGGCTCACCCCTATAATCCCAGCACTTTGGGAGGCTGAGATGGGCGGATCACCTGAGGTCAGAATTTCAAGGCCAGCCCGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTACACTCCAGCCTGGGTGACAAAATGAGACTGTCTTAAAAAAGAGAAGAATTAAAAAAAAGAGAGAGAGACATTAAGATAGCATCTTATTGTAAACATTTTTTTCTTTTTCTTTCTGAGGCAGAGTCTCACACTGTCACCAGTCTCACACAGCAACCTCCACCTCCCGGGTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTCCACACCACCACACTCAACTAATTTTTGTATCTTTAGTAGAGACAAGGTTTTGGCCTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATGCACCTGCCTCAGCCTCCAAAAGTGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCTTAATCTTGATTTCAAAAGACAAGTCTTTTCTCTAACATATTAAGATAGCAAGTCTCAAAATTATTTGAGTGTCTAGAGTCTTCATGTATTTCTCAGGAAGCATACCCTTGTACACACTGGTACTCTATATCTTGAAAAGATTGGTTCAAAGAAATTGTTTCTGGAAAACTGTTTGAAGAAGATGCAATCTATCTATTCCTTCCAGGCTGTGGTTTTCAAATACACTTATACAAACAAATTCTTATACGAAACTCCAATATACTCCAATTATCAAAGAAAAGGGAGTCTTCAATTAGTAAAAGTGTATTTTATAAGTTCAAATTTTTAATATTTACTCTTTAAAACATCAAACAATGCAAAGAGTATAAGGCTGTTTTGAAGAAAGCAAAAATCTGAAGTCAGGAGTTGTAGATACAGATGCAGTCTCAAGAGACCCTATATGTCTAATTACTTTCATCTCGTTTGGGCTGCATGGTAGGGGAAAATCCGGATTCACATACTTCTATGAACATAAATGGAACGGGCTTAGGTGGGGGGTTTGAAGGCTCACTGCAGATGATTCCCATGCAGCGCCTGCAGCTGTCTACAGAGCAGCACTGGGAAGCACAAATGGGCCTTCGGGGCTACTTCAAAGGGGGTCTGCAGCCAGGGGCCATCGCAAAATATTATTAATCCATGAAAGGTAAGTACAGAAATTTAAAGTATATGTTTACGTGTTTCCATAGCAGTTTGCCGCTACTGTGACATTTTTATTATAGTTCACAAAGTATTGACTTATGACACATTGAAAATTCATGTAAATAAAATAAACCAACCCAGTCCTTCCCCACAGAGACTTTGAAAGCTCTGTTCTAAC
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AGCTTTAATTCACTAGGTAATGGCTTTGTCTTGTATTCTCCATAAATCCTAACGAAACTAGGTAATAGTAAGCATTACTTCCAATGCACCTCTAACAAAAATTGGAATTAATTCCATACCTCAATTTGTTGCAGAATATCTATAACCACATCAGGAACAGAAGGGTCTGCATCCAGCTTGACAGAACAAAGTGAAAGCTGGCGAATAAGGCTGCCCAGTTCCTTACACCGAGCAGGAAGTGGATGCTCCCCTCGGTCAGTAAACTGAGTGACAAACATCTGTAAGGCCCGAATGGCTCCTCGATGGGCAGCCGCCAGCTTAGACATTGCCCATGACTGGTAATAAACAAGATGAGAGAAGTTATTTCCATACTCAGAACTTGCTAACATTCACCCAACTTCTAAGAATATTTATAGCCTGTCTTCTTTCTGTATAAAGTGCTTTCTATTGTGAAAACTTTTTCATAGTAAAGGGAGTTGTAAAGTTTAAAGTTTTCTAGTGGCAGTCTTTTCCTTACTACTTCCAATTTTTTATACCAGCAGCAACAACAACAAAAATCTATTTTTTAGAACCTGTTCCTTAGAAGGCAACCATATTCAGAATATGTAAGGTGCTCACTCCCTCACTAACAGGTTTCTGCAAGTACTGAAAATAACATTAGTGCAGAGGGCCCTACACAATACTAACAAAACACTGGGAAATGTCATTTATAAGCAAGTATTGATCATAATTTAATTGCAGCATACCTTCTTAGTGTGTTTAATTTTATGTGGACTCAATTTATCCAATTCTTCCTGGATTTCTTTTACCTGTTTTGTAAAGGGGAAAAAAGAAAACTTCATACCTTTCCATTGATCTTTTTTGTAGAAAAGGATGCATCGATATATCTCCTCTTGTCCAAATATAACCATTATTAATTCAAGTCACTTGAAAATGAAAAAAAGGCTCTTCATTCATGCACCCAAAAAACAGTTACTGGTTTCCAGTTCAAGATAGTGAATAGGCAGTGTTCACCTTCCATCCCTTCGTCCCCAGTGTAATAGGAATTTAGCATGAAGGAGTGAAGGTGGAGGTGACTCTGGAAATGTAGGCGGGCCGGATCGTGAAGTCTTACATGCCACGCTGAAGAGTTTAGCTTTCATCCTCTAAGTTACAGAGAGCCACTAAAGTCTTTTAAGCAGAGGTCTGACATGGTAAGATTCATGTTTTAGAGCAATCTCTACGGCAGCAGTGTAGAATAAGAACTGAAATAGAACCCAAAAGAATACACTGCAAAACCTAACTCAGGCATTTTCTTTTAAATGAAAAAGTACAGCTTTTGGTTCAAGCAATAAAGGCTAACATGTGACTTCAGTGACCAGAAATGAGTAAAAGGCTTACTAATGTATAAGGCATGAAAGTCACAACAAACACTTTTTAAAAATCCATCACAATGTAAAGAACGTAAATGCCTGTGTATCCGCTACTAAAGATGTCCTCAAAGACACTTAACATGGTCTTTACTCTTTGCTGTTTACCAAATTATTTACTATTACAAGCTTCTATACATTATAAACATGAAATAGATGGGAAACTAACAAGGTCCCTTTCCTCTAAGACTGGGGTCCATAGCTAGGACCAAGGGTTCAGGGTAACTGATCCACCTGACTTCCCATGCAAAAATATGTGCTATATAATGTATAAGCATCTTGGGGGTGGGGAGGAGTGGCTTTTAATAGATTCTCAAAGGTCTATGACCTCATAAAGTCAAGAACCAGTTTAAGGAGTTTGGCGCCACACACACACACACACACACACACACACACACACGCAGATTACAAAAAGAAAGAGAATTATTTGCCCATGTGTTCAGGTAATTGAGCCTCACAAATCTGTCAGAACTCATATGGGATACTCTAGTGCTAATCTTTCTGAGACAAAAGGAAAACAGAAACTCTCTAAGGAAGCAGTACACAAGGCTGACTGCCCTACTTCTCCCTGAACTTTTCACACCTGCTGCTGGAGGACGTAGAGCATTCGGGCAGAGCGAGCAGCTTGCTCCTGTCTCCCGATACGGATTCGACGTTCTTCATCTGGATCCAAAGCTTCTTCTAGTCTATCTGAAAATATTAATAGTTTTCCCCAAAAGTGGATTATAAACCATATATTAAAACTTACAAAGACTTCAATTACTTACAGAAATAATAAAGTTGAAGATCTCTGGTTTTATTAAGAAAAAAATGAGGCTATCATAACAGAAAATTTCATTTTTCATCAGCCAAGAAACCAGCAGTAAGTGGAGCTGTGTACTGACTGAGAGATGGAAGGGACATAAAGACATTTACTCCATCAAGCTCCCCTCCAGCCAGAATTCCCACTGGACAGCGATTTCACTATGAGGCACCTCTTACTATTTTAGAATTCCTTATATTGAGCCAAAATCTGTTATTCTTGCTATTTTTTCAAAAACTTTTTATTGGCCTGTTTTTATGTTTAGCAAGATTAGTTTTACAATGTAAAGAAGGTATTAATAAATGCCTATTGATCAGCCACTAAATATGTCCTGAAAGACACTTAACATGGTCTTTAGTCTTTGCTGTTTAATAGAGAATAATCAAATGTTGAATTCAAAAGAGAAATCCTGGCCAGGAGTGGTGGCTCACCCCTATAATCCCAGCACTTTGGGAGGCTGAGATGGGCGGATCACCTGAGGTCAGAATTTCAAGGCCAGCCCGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTACACTCCAGCCTGGGTGACAAAATGAGACTGTCTTAAAAAAGAGAAGAATTAAAAAAAAGAGAGAGAGACATTAAGATAGCATCTTATTGTAAACATTTTTTTCTTTTTCTTTCTGAGGCAGAGTCTCACACTGTCACCAGTCTCACACAGCAACCTCCACCTCCCGGGTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTCCACACCACCACACTCAACTAATTTTTGTATCTTTAGTAGAGACAAGGTTTTGGCCTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATGCACCTGCCTCAGCCTCCAAAAGTGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCTTAATCTTGATTTCAAAAGACAAGTCTTTTCTCTAACATATTAAGATAGCAAGTCTCAAAATTATTTGAGTGTCTAGAGTCTTCATGTATTTCTCAGGAAGCATACCCTTGTACACACTGGTACTCTATATCTTGAAAAGATTGGTTCAAAGAAATTGTTTCTGGAAAACTGTTTGAAGAAGATGCAATCTATCTATTCCTTCCAGGCTGTGGTTTTCAAATACACTTATACAAACAAATTCTTATACGAAACTCCAATATACTCCAATTATCAAAGAAAAGGGAGTCTTCAATTAGTAAAAGTGTATTTTATAAGTTCAAATTTTTAATATTTACTCTTTAAAACATCAAACAATGCAAAGAGTATAAGGCTGTTTTGAAGAAAGCAAAAATCTGAAGTCAGGAGTTGTAGATACAGATGCAGTCTCAAGAGACCCTATATGTCTAATTACTTTCATCTCGTTTGGGCTGCATGGTAGGGGAAAATCCGGATTCACATACTTCTATGAACATAAATGGAACGGGCTTAGGTGGGGGGTTTGAAGGCTCACTGCAGATGATTCCCATGCAGCGCCTGCAGCTGTCTACAGAGCAGCACTGGGAAGCACAAATGGGCCTTCGGGGCTACTTCAAAGGGGGTCTGCAGCCAGGGGCCATCGCAAAATATTATTAATCCATGAAAGGTAAGTACAGAAATTTAAAGTATATGTTTACGTGTTTCCATAGCAGTTTGCCGCTACTGTGACATTTTTATTATAGTTCACAAAGTATTGACTTATGACACATTGAAAATTCATGTAAATAAAATAAACCAACCCAGTCCTTCCCCACAGAGACTTTGAAAGCTCTGTTCTAAC
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Task1_train_23330
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Gene SLC13A5 (solute carrier family 13 member 5), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Developmental and epileptic encephalopathy, 25
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ACAGGGGGCCAGTCGATTAAAACAGAACCAAGTGATGAAGGGCGTAGGTTGGCCTGTGGTGCACTGTGGGTGGCAAGCCAGGTGTCGTCCTGAAGTTGGCAACTCAGATTCCTCATCCTTTGGTGGTGGCCACAGGAGGAGTTCCCAGAGGCTTCAGGAGGCTCTGATTCCCACTCGCACTCCAGCAGTGGGAGGTTGCTCAAGACCAGGCATTCCGTCCCTGGCTGGGGTGTCCCTTCCAGAGTGACAGAGATGATCTGAGGCTGCTCAAGGTGAGCTGGAAGGGACATGGGCACTGGTAGGTGGTTGTCTTAGCTCTCAACCAGGGGATCCGATTCCCATTTAAACTATCTAGGACGAAGCGAGTGAAAACCAGAGCCCTGTGTGGGGGATGCTTGAGGCAGAGCGGGTACAGCAGCCTGCATCCTGATCCCTCGGCTACCTGGCCTCCCTCACAGAGATAATGGCAAGGCTTGGGAAAGATGGGTCCAGCAGCCCACTGAGGGGTTCCCTTCATTTCTGAGCCTACCCTCCAGCTGCCCATGACCATCTCTGCATCTGGGCTTGGAGGAAGAGGTGGCCCATTGGCTGGGTTTTGGTGGTGTGTGGACATCGTTGGGTCATTTTGGGGTGTGAACCCCAAAACTCTGTACAAGGTGTGCCAGAAGGTTCGGTAGTCCTGAGGAGGGTAAGGGCTGTGTGTGTGGTCTTGTGGCTCTTCCTAAGTCTCAATATGTGTCACATTAGCCCAGTCAGGGAAATGATCCAAGTCAAATATGGCCCGTCCCCAGGTGTTGACAGCCAAAAACACACAGAAGACTCCAATTATGTTCATTATGACTCCTGTTTTCACCTGGAAAAGAGACAGAGTCAGCACCCTGAGGCCTGCTGGGGACTAGTGCTCTCAGAGAGGAGGACAAAGGGTCGGCTCACTGGGCCTCGATGTCCCTGTGCCATGCTCTGTCCCTGGCTGGGGTGTCCCGACCCCCAGGACAGTGCGACTTCATGTCCCCCAGGTATCCTCAGTGCTCAAGGCATCCCTGGGAAGTAGGCAGAGTGGATGGGTTCTCTATGCCCGTGCGCATTTGGAAAATGACCTCAGAGAAGTGACAGGAGGCAACAGCTTAGGCCATTCAGGGAAACGGTCACAGAGCCCAGTGTTCCGTGAGTCCAGGTTCATTGCTCACCCCAGTGCCTTAACTATCCTACAAGGACGTGCCAGCTTCCCTGTGGACCTCCTCAGGCTCTTTCTGATGCCTGCTCTGCAAGCTTCCCTCATGGTCACTAACCATCGCTTCACTACCCTGTTGTAGATATTTTACTGGGGATTGGAGTCAAGTTTGCAGTCCATGGTTTCTGGGACCCACCTTTTTTTTTGAAAATGCTCATGGAGTCCCTGAGATACCCAGCAGAGGCTCTGAGATAACGAACACCCGATTGGTCCCAGGTACATTTCTGGCCTCTTGGGCTCAAACACTTGCCTCTTTCCCAGCCCAGAGCTGCAAAGCTGCCCTTCTCCCAGCAAAGGTGACAGAGCTAATGAAGAGTTCTTCCTCTGACTACATTTGTTTCCAAGGCATCATCTACTCCCAGGCAGTGCTCTCTCTCTCCCTCTCCCTGCTTCTACCTCTTCAGGCACCCCTACAAATCTCTGTGACTGTCATTAGCATCCCCCTGCTGCCTAAGCCTGCCCTGCCTATCTTCATGGTTCTTGCTAATTTGTCAAGTTCATCCTTGGCCATATGAGTCCCTCAGCCCCACCTTCACCCCTTCCAAGGACTCCCCTGGTGCCTGCACAGGCTTCTCCAGGTGGGAGAGTCTATAACCCACCTCAGAGAAAGAACAGTGTGTGAGGCTTGAGATCATCTCAGAAAAAGAAGAAAAGCTGCATTATAAATGTCAACAATGGCTACAGGTCTGGATGTTCCGTGGCATTCCCAAGTCACATGACATCGTTTTGAAACTCTGTCATTCATAAATGGGGCATCCCTTATGACAACAGCGTTATAGTCCGACGGGAGTAAATAAAAACAGCTGTGTTACCATGTCAGCAACCTTGAGGTGCCCATAGGTGAACACGATGGCATTTGGAGGGGTGGCCACAGGCAACATGAAGGCAAAGGAGGCACTCAGGGTACAGGGCAGCATGATGTACAGCGGATTGAGGCCGATGGAGCGAGACTGCGGAAAAACAGCACTGCAACATCACCGTACAGAACACAGAAGCTCTTGGGGACGTGATTCTGAAAAGGATTCTCTGAATGTGCCGGGTACGTTTGAACCTCTGTGCCTCAGTCTTGGTTCCTCTCCCTTTTGCCACGTCTCTGGCAGATAATTCCACCTACGGAACACTGAAGGCTGAGGTCAGAGGCCACCTGCCCTAGAAGGCCTTACCCCCTCAATTCATTCGACATGTATTTCTTGGGCACCTACTATGTGCCAGAGACCATGCTGAGTACTTAGACTGTGCTCAACCTTACAGTGCCGCGTGCACATGTCTGTCTGTCTTGCCACAGACTGAGAGAGCCTAGAGGCCAGGGACCACATCTTCTCTCCCGCATATAAATCTGTGGATGTGTGTGTTTTTATACATGCGTGGGGTCATTTTGCACATGGAATTTGGTAGCCACCTTTTAAATTCTACACTTTAAAATTTAGCCACATCCAACAGCACCTATCAGAGAGTAGGCACTCATTAAATATTTGCTGAGTGTATGAATGAATGATGTAATTCCTAAAATCTATCAAATCAATCATGTATCATGCACATGAGGGCAGACACATGCAAACATGTTTGTTGCAACCATGTAACGGCAAAACACAGGAAGCCAACTCAATGGTCACTAATAGCAGGATGGTTAAATAAAATATGACACATACAAATAATGGAATAGTATGCAGCTGTAAAGAATTGGATTTTTTTTTCTTTTTGTGCTAATCAGGAAAGCTCTCCAAGATAACCAAGGCTTCATGGTTAGATTTTTTAAAAATTAAGATGAATGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCAAGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCTGTCTCAAAAAAAGTGTGTGAGTGTGTAAAATATCCAGAAAAATATTTGAGAAATTAACAGAGGTCATCTCTAGGGAGGAGGCTAGAGGATTAAGGTCTGTATACATCTTTGCATTATTAGACATTTTTAGCCATATACCATCTGCAATTTTAAAAAACTATACTATGAGCATGTTCCCATTTTATTACTCTTTGAAACTGTGATTTTTAATGGCCTGATAATGTCATATTATATGAATATATGATAATTTATTTCAGCAAACCCCCTGTTACTATGGATATATTTGTATAATAATTCTGTCATACATCATCATCACATATGTTGGTAGGCATCTCTGATTATTTTCCTAAGATATATTCCCAGACATGAAATTGCTGAGTCAAGGGGTCTGAGCAGGTTTAATGTTACGGTTCCTGTTGGTAAACAGCCCTCTGAAAGGACTGCGCAAGTCCCACGCCCCCTGGGAACCACTGAGGGGTCCCACGCAGGGGCCCAGCTCTTCGCTGGCGCGTCTCCCCGACCATCCTCGTTTTCCTGGCTGTGGGTACCTCATGGTGTCTGCACCTCACACTCCTCTGCAGCCCAGCTCAATGACCATCACCTTTTCCTTTCTCATAGGTGGGCGTGAGACAGGAGTGTGATGGGCCTTAGAGGTAGCTGGGGGAGTTTTTACTTGAGGTTCCTGGTTCTAGAAAAGCCCGTTTTCAAAGAGCCCGTTAGGGCCTGCATTTGCCTGGTTGGAACCCTCGGTGCTCCCAGTTAGGGCTGGAGATGACAAAGCCACGGCCTGTGCTAGGAGAGAGGAGGCATCACCAC
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ACAGGGGGCCAGTCGATTAAAACAGAACCAAGTGATGAAGGGCGTAGGTTGGCCTGTGGTGCACTGTGGGTGGCAAGCCAGGTGTCGTCCTGAAGTTGGCAACTCAGATTCCTCATCCTTTGGTGGTGGCCACAGGAGGAGTTCCCAGAGGCTTCAGGAGGCTCTGATTCCCACTCGCACTCCAGCAGTGGGAGGTTGCTCAAGACCAGGCATTCCGTCCCTGGCTGGGGTGTCCCTTCCAGAGTGACAGAGATGATCTGAGGCTGCTCAAGGTGAGCTGGAAGGGACATGGGCACTGGTAGGTGGTTGTCTTAGCTCTCAACCAGGGGATCCGATTCCCATTTAAACTATCTAGGACGAAGCGAGTGAAAACCAGAGCCCTGTGTGGGGGATGCTTGAGGCAGAGCGGGTACAGCAGCCTGCATCCTGATCCCTCGGCTACCTGGCCTCCCTCACAGAGATAATGGCAAGGCTTGGGAAAGATGGGTCCAGCAGCCCACTGAGGGGTTCCCTTCATTTCTGAGCCTACCCTCCAGCTGCCCATGACCATCTCTGCATCTGGGCTTGGAGGAAGAGGTGGCCCATTGGCTGGGTTTTGGTGGTGTGTGGACATCGTTGGGTCATTTTGGGGTGTGAACCCCAAAACTCTGTACAAGGTGTGCCAGAAGGTTCGGTAGTCCTGAGGAGGGTAAGGGCTGTGTGTGTGGTCTTGTGGCTCTTCCTAAGTCTCAATATGTGTCACATTAGCCCAGTCAGGGAAATGATCCAAGTCAAATATGGCCCGTCCCCAGGTGTTGACAGCCAAAAACACACAGAAGACTCCAATTATGTTCATTATGACTCCTGTTTTCACCTGGAAAAGAGACAGAGTCAGCACCCTGAGGCCTGCTGGGGACTAGTGCTCTCAGAGAGGAGGACAAAGGGTCGGCTCACTGGGCCTCGATGTCCCTGTGCCATGCTCTGTCCCTGGCTGGGGTGTCCCGACCCCCAGGACAGTGCGACTTCATGTCCCCCAGGTATCCTCAGTGCTCAAGGCATCCCTGGGAAGTAGGCAGAGTGGATGGGTTCTCTATGCCCGTGCGCATTTGGAAAATGACCTCAGAGAAGTGACAGGAGGCAACAGCTTAGGCCATTCAGGGAAACGGTCACAGAGCCCAGTGTTCCGTGAGTCCAGGTTCATTGCTCACCCCAGTGCCTTAACTATCCTACAAGGACGTGCCAGCTTCCCTGTGGACCTCCTCAGGCTCTTTCTGATGCCTGCTCTGCAAGCTTCCCTCATGGTCACTAACCATCGCTTCACTACCCTGTTGTAGATATTTTACTGGGGATTGGAGTCAAGTTTGCAGTCCATGGTTTCTGGGACCCACCTTTTTTTTTGAAAATGCTCATGGAGTCCCTGAGATACCCAGCAGAGGCTCTGAGATAACGAACACCCGATTGGTCCCAGGTACATTTCTGGCCTCTTGGGCTCAAACACTTGCCTCTTTCCCAGCCCAGAGCTGCAAAGCTGCCCTTCTCCCAGCAAAGGTGACAGAGCTAATGAAGAGTTCTTCCTCTGACTACATTTGTTTCCAAGGCATCATCTACTCCCAGGCAGTGCTCTCTCTCTCCCTCTCCCTGCTTCTACCTCTTCAGGCACCCCTACAAATCTCTGTGACTGTCATTAGCATCCCCCTGCTGCCTAAGCCTGCCCTGCCTATCTTCATGGTTCTTGCTAATTTGTCAAGTTCATCCTTGGCCATATGAGTCCCTCAGCCCCACCTTCACCCCTTCCAAGGACTCCCCTGGTGCCTGCACAGGCTTCTCCAGGTGGGAGAGTCTATAACCCACCTCAGAGAAAGAACAGTGTGTGAGGCTTGAGATCATCTCAGAAAAAGAAGAAAAGCTGCATTATAAATGTCAACAATGGCTACAGGTCTGGATGTTCCGTGGCATTCCCAAGTCACATGACATCGTTTTGAAACTCTGTCATTCATAAATGGGGCATCCCTTATGACAACAGCGTTATAGTCCGACGGGAGTAAATAAAAACAGCTGTGTTACCATGTGAGCAACCTTGAGGTGCCCATAGGTGAACACGATGGCATTTGGAGGGGTGGCCACAGGCAACATGAAGGCAAAGGAGGCACTCAGGGTACAGGGCAGCATGATGTACAGCGGATTGAGGCCGATGGAGCGAGACTGCGGAAAAACAGCACTGCAACATCACCGTACAGAACACAGAAGCTCTTGGGGACGTGATTCTGAAAAGGATTCTCTGAATGTGCCGGGTACGTTTGAACCTCTGTGCCTCAGTCTTGGTTCCTCTCCCTTTTGCCACGTCTCTGGCAGATAATTCCACCTACGGAACACTGAAGGCTGAGGTCAGAGGCCACCTGCCCTAGAAGGCCTTACCCCCTCAATTCATTCGACATGTATTTCTTGGGCACCTACTATGTGCCAGAGACCATGCTGAGTACTTAGACTGTGCTCAACCTTACAGTGCCGCGTGCACATGTCTGTCTGTCTTGCCACAGACTGAGAGAGCCTAGAGGCCAGGGACCACATCTTCTCTCCCGCATATAAATCTGTGGATGTGTGTGTTTTTATACATGCGTGGGGTCATTTTGCACATGGAATTTGGTAGCCACCTTTTAAATTCTACACTTTAAAATTTAGCCACATCCAACAGCACCTATCAGAGAGTAGGCACTCATTAAATATTTGCTGAGTGTATGAATGAATGATGTAATTCCTAAAATCTATCAAATCAATCATGTATCATGCACATGAGGGCAGACACATGCAAACATGTTTGTTGCAACCATGTAACGGCAAAACACAGGAAGCCAACTCAATGGTCACTAATAGCAGGATGGTTAAATAAAATATGACACATACAAATAATGGAATAGTATGCAGCTGTAAAGAATTGGATTTTTTTTTCTTTTTGTGCTAATCAGGAAAGCTCTCCAAGATAACCAAGGCTTCATGGTTAGATTTTTTAAAAATTAAGATGAATGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCAAGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCTGTCTCAAAAAAAGTGTGTGAGTGTGTAAAATATCCAGAAAAATATTTGAGAAATTAACAGAGGTCATCTCTAGGGAGGAGGCTAGAGGATTAAGGTCTGTATACATCTTTGCATTATTAGACATTTTTAGCCATATACCATCTGCAATTTTAAAAAACTATACTATGAGCATGTTCCCATTTTATTACTCTTTGAAACTGTGATTTTTAATGGCCTGATAATGTCATATTATATGAATATATGATAATTTATTTCAGCAAACCCCCTGTTACTATGGATATATTTGTATAATAATTCTGTCATACATCATCATCACATATGTTGGTAGGCATCTCTGATTATTTTCCTAAGATATATTCCCAGACATGAAATTGCTGAGTCAAGGGGTCTGAGCAGGTTTAATGTTACGGTTCCTGTTGGTAAACAGCCCTCTGAAAGGACTGCGCAAGTCCCACGCCCCCTGGGAACCACTGAGGGGTCCCACGCAGGGGCCCAGCTCTTCGCTGGCGCGTCTCCCCGACCATCCTCGTTTTCCTGGCTGTGGGTACCTCATGGTGTCTGCACCTCACACTCCTCTGCAGCCCAGCTCAATGACCATCACCTTTTCCTTTCTCATAGGTGGGCGTGAGACAGGAGTGTGATGGGCCTTAGAGGTAGCTGGGGGAGTTTTTACTTGAGGTTCCTGGTTCTAGAAAAGCCCGTTTTCAAAGAGCCCGTTAGGGCCTGCATTTGCCTGGTTGGAACCCTCGGTGCTCCCAGTTAGGGCTGGAGATGACAAAGCCACGGCCTGTGCTAGGAGAGAGGAGGCATCACCAC
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Task1_train_23331
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A genomic change on Chromosome 17 affects DLG4 (discs large MAGUK scaffold protein 4). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Intellectual developmental disorder 62
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TAGCGCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTACCGAGTAGCTGGGATTACAGGTGCCCGCCAGTGCTGGGATTACAGGCGTGAGCCACCATGCCGCGCCCACAGGGGCACCTCTTTCTAAGCCATCCACTGGGGGTGGCGGGGGAGCTCTTTCTAATCCGAGCAAGGGCACCCTACATGCTGGCAACAGCCTTGCTGTGGCCTCACCTGAGAAGCACTCTGTGAACTCCTGCTCCAGCTTGGTGGCTCTGTCGAAGGCTTTGCGGGCTTGCTCCTCTGTGATCCGCTTGTTAATCTCTCTGTGAAGAGGGAGGGAGAGCAGGCCTGAGACTGGACCCACCTGACCCTGCCTTTTATCTCCTCTATCCAGGAATGTTAAGTATTCTTCTATTTGGAGCACATAGCAAAAAAAAAAATACAATTCCCAATATCCTCTGGGGCCACAGATGAGAACCACCCCCCACCCCCCTGCCACCCGCAACCGCCCCAGCCAGGTGTGGCTACTCCAGGGACATCTACGGAGCTTCATCCTTCCAGCCTTCAGCCCCAGAGATGGGATTCGGACTCCAATTCCCAACAGCCCTAGAGGCCCTGACTCGCCCCAGCTGGTATGCCCCAGGGGCTGCTGGGAAATGTAGTCCTGTCTAGCCAAGGCAGGAGAGGAGGGGAAAGACCCGATTCCCCCACATCCTCTGGGTTCCAGGGATCCCCCTCAGGGGCTGCTGAAACCGCTGTCCAGGGTTCTGAAGGGAGAGTTGAACGCAGACGCCTTGTGAGGCCCAGGGCCACAGGTGTTGGGGGAGCAAAGGGGAGGCCCCCAGGACCATACTCACAGCACATTCTCCAGGGAGCGGGGGCGGATGAAGATGGCGATGGGGTGCAGGTGGGCCGCCTGCAGCCGCCGCACGGCATTGGCCGAGACATCGAGGATGCAGTGCTTCCCCTGGGGGCAGGCAGGGTGGGCGGAGGGGGGCCAGCGGGTGGCGAGAAAGGACAGAGAGCAGTGCCGGAGGGACACGGACGGGGAGAGGTGGGGAATGGGAAGTTGGCCGAAGGGGAGTGACATGGATGTCAAGAAACACGGGGGCAGAGAGTCAGGCAGGAAGCGGGTATGGACAGAGTAAAAGACAGAGGGAAAGGAAAGGGAAGATGGAGAGCACGGGAGAGGGCAGGGACAGGACAGAATGGAGGAAGGGAGGAGCACCAGGCAGGCAGGGACCCAAGAGATGGTGGCAGAGCCGGGGCAGCAGCGAGTGGGGCGGGGTGTGCAAGGCAGAGGTGACACAGGCGGGAAGGAAAGCCAAGAAAAAGGAGAAAGGAAGTAGGATAGAGGGAGGAGGGAGGGGAGGACGGACAGAGGACAGACAGATGGAAGGAACAAGGAGACAGATGGGAGGGAGTGAGGCAGATGGAGAAAGGAACCGTGGAGGGAGGGAGGGAGGGCAGGGTGAGGAGCAGCGGGGAAAGGAAAGGAGTTAGCAGAGGAGTGGGAGAGGGGAGCCGGGCCCCAGAAAAGGGTGAGGCAGGGGAGAGGGCCAGCGGGGAGTCAGGAAAAAGGGAGGGACCCAGTGGGGAAGGCCAAGCCACCAAAGACAAGGCCATGGGAAGAGAGGAGAAATGGGGCAAGGAGAAGGGAGTGGGGAGAGAAAGAGGCCAGATGGTGGTGGGGAATTTGGGGTCAGGAAGTGAGGGAGGTGGGAGAGAGAGCAGGGGCAGAGAGCAGGCAGTCAGACAGAGTTGCCCAAGAGGAGAAGGAGGTGGAGGAGCGGAGTGGAGACCCAGCAGGGAAAGAGACAGAGAGAGAGAGAGTTAGAGAAAGCTGGAGGGAGGCAGTGGGGTGGGGAGAGGGGAGAAGGAAGAGGACCGGGTGCCCGCCAGGTCCTACCTGCTCTGCCACCTCTCGCACGGACTGGACGCTGGTCCCATAGAGGTGGCTGTTGTACTGGCCGGCCTCAATGAACTTGTGCGCCTGAATGTCCTTCTCCATTTTCTCCCGGGACGACACAAAGTGGTAATCCCGGCCATCTATCTCATACTCCCGCTTGGGCCGTGTCGTATCTGCCAGGAAGTCACCCCACCCCCCAAAGATCTAACCACCATCCCTCTAGCTTAAATCCTGCCTACTTCAATCAAATCCCCATAGTGCCCAGCTGGTCCTTTGGTGAAAGGGAGCTGCCAGGGAGACCAAGACTGCAGAGGGCCAGAACCGCTTCCCCTAGCACCCTCCAGGGCCTCCAAGTCTCTGGCCTGGGCATGGGTACTATGGAATGAGAGGGTGGCTGAGAAGCACCCCTTCTCGGAGAAACCCTGTATCTCCCTACACACCGATCCCCCAGGAGGCTCTGCCTATGGCCCCAGGGATGGGCCTCCCCTGCCCCACCCCCACTTCCACCTTCTCCTCCATCCAAGGCCCCAGCACTCACGGGGAACACAGGATCCAAACTTGTCGGGGAACTCGGAGAGAAGATCATCGTTGGCGCGGTCCTTGGTGGGCCCAAGGATGATGATGGGGCGAGCATAGTGCACTGCAGAGAGAGCCTGGCTTAGGCCGAGCGCAGGGTTGGGGGAGCAGCAAGTGCTGGGGCCAAGGCAGGGGCCAGGGCTCACCTTCCATCTGCGTCACTGTCTCGTAGCTCAGAACCGAGTCTTCTCGACCTGGTGGGAGGTGGGGCATCTGCAAGGGGCTCTGAAACAGGGGACCTGGAGCCCTGTCTCCCCCTTGAGGATATCAAAAGCAACTCAGTGCTCCTCTCACCCACATCTTCCCGAACTAACCCTACCTACCCTGCGATCCAGAGCTGGAGCCCCAGTCCTAAGAAGAAAAAGCAGGCCACGGGGTTAGTTATGAGCTCAGCTCCATGAGCCCTCACACTTCCACCCAGGCTCACACCCTCCTCCACCTACCTTGGCCTTTAACCTTGACCACTCTCGTCGCTCAACCCTGTGGGATACATGGAGGGATACGCGGGTAGGGGAATGCCTACCCCCTGCCACCCCCATGCTCTGAGCCAGCTGACAACCCCTTCTCCATACTCTGGGCCAGCTGACACCCCTTCTCCTGCAGCCCTGGACACTGTGCTCCTCAATAAGGAGTTGTCCTTCCCAAAGGCTCATGGGAGCCACGGACCCCAGGAGGGCCCAACAGACAAACCCCTAGGAGTTCAGAGGGCAAACCCATCCCCTGTTGGCTGCCCACCCCGGGGGACCTTGGGAACTTCAGTGCCTGTGGCAGGAAGGCTACAGAGCCCAGGAGCCTCACCGCCGTTTGCTGGGGATGAACCCAATGTCGTCGGTCTCACTGTCAGAGTGGACCCGCCGTGCCTGCCACCACTCCTCATCACTAGCATCGATGACATGCAGCACATCCCCAAAGCGGAAGCTCAGGGCCTGGCTCAGGAAGCCGCAGTCCTTGGTCTTGTCGTAATCAAACAGGGCCCTGGAGGGCAAGTGGCTATCGGTCAGAGCCCAGCTGAGGACTCCAGGAAGGATGCCCCAGTCACCCAAAGACCCGGCCCAGAGGTCTGCAGATGGCACTCCCATGGGAGCTATGGATGCCGAGGAACCCAAAACTGTGTGGGGACCAAACGCTGACTATAACTCATAACAACTATTAGCCATCACTCAGTCCACACTGAGCACAGTTTCCAGAGGCAGGGCTTGAACTTGACCCTCTCAAGAAAGCAGTTTGGGCCAGGCGTGGTGGCTCCCACCTGGAATCCCAGCTGACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATGGTGAAACCCCGTCTCTACTAAAAATACAAAATATTAGCCGGGCACGGTGGCGGGTGCCTGTATTCCCAGCTTCTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACGGAGCGAGACACCGTCTCAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAACAGAAAGCAGTGTGCAGTACACACGCACATCATAAAGTCACAGGGGTAAC
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TAGCGCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTACCGAGTAGCTGGGATTACAGGTGCCCGCCAGTGCTGGGATTACAGGCGTGAGCCACCATGCCGCGCCCACAGGGGCACCTCTTTCTAAGCCATCCACTGGGGGTGGCGGGGGAGCTCTTTCTAATCCGAGCAAGGGCACCCTACATGCTGGCAACAGCCTTGCTGTGGCCTCACCTGAGAAGCACTCTGTGAACTCCTGCTCCAGCTTGGTGGCTCTGTCGAAGGCTTTGCGGGCTTGCTCCTCTGTGATCCGCTTGTTAATCTCTCTGTGAAGAGGGAGGGAGAGCAGGCCTGAGACTGGACCCACCTGACCCTGCCTTTTATCTCCTCTATCCAGGAATGTTAAGTATTCTTCTATTTGGAGCACATAGCAAAAAAAAAAATACAATTCCCAATATCCTCTGGGGCCACAGATGAGAACCACCCCCCACCCCCCTGCCACCCGCAACCGCCCCAGCCAGGTGTGGCTACTCCAGGGACATCTACGGAGCTTCATCCTTCCAGCCTTCAGCCCCAGAGATGGGATTCGGACTCCAATTCCCAACAGCCCTAGAGGCCCTGACTCGCCCCAGCTGGTATGCCCCAGGGGCTGCTGGGAAATGTAGTCCTGTCTAGCCAAGGCAGGAGAGGAGGGGAAAGACCCGATTCCCCCACATCCTCTGGGTTCCAGGGATCCCCCTCAGGGGCTGCTGAAACCGCTGTCCAGGGTTCTGAAGGGAGAGTTGAACGCAGACGCCTTGTGAGGCCCAGGGCCACAGGTGTTGGGGGAGCAAAGGGGAGGCCCCCAGGACCATACTCACAGCACATTCTCCAGGGAGCGGGGGCGGATGAAGATGGCGATGGGGTGCAGGTGGGCCGCCTGCAGCCGCCGCACGGCATTGGCCGAGACATCGAGGATGCAGTGCTTCCCCTGGGGGCAGGCAGGGTGGGCGGAGGGGGGCCAGCGGGTGGCGAGAAAGGACAGAGAGCAGTGCCGGAGGGACACGGACGGGGAGAGGTGGGGAATGGGAAGTTGGCCGAAGGGGAGTGACATGGATGTCAAGAAACACGGGGGCAGAGAGTCAGGCAGGAAGCGGGTATGGACAGAGTAAAAGACAGAGGGAAAGGAAAGGGAAGATGGAGAGCACGGGAGAGGGCAGGGACAGGACAGAATGGAGGAAGGGAGGAGCACCAGGCAGGCAGGGACCCAAGAGATGGTGGCAGAGCCGGGGCAGCAGCGAGTGGGGCGGGGTGTGCAAGGCAGAGGTGACACAGGCGGGAAGGAAAGCCAAGAAAAAGGAGAAAGGAAGTAGGATAGAGGGAGGAGGGAGGGGAGGACGGACAGAGGACAGACAGATGGAAGGAACAAGGAGACAGATGGGAGGGAGTGAGGCAGATGGAGAAAGGAACCGTGGAGGGAGGGAGGGAGGGCAGGGTGAGGAGCAGCGGGGAAAGGAAAGGAGTTAGCAGAGGAGTGGGAGAGGGGAGCCGGGCCCCAGAAAAGGGTGAGGCAGGGGAGAGGGCCAGCGGGGAGTCAGGAAAAAGGGAGGGACCCAGTGGGGAAGGCCAAGCCACCAAAGACAAGGCCATGGGAAGAGAGGAGAAATGGGGCAAGGAGAAGGGAGTGGGGAGAGAAAGAGGCCAGATGGTGGTGGGGAATTTGGGGTCAGGAAGTGAGGGAGGTGGGAGAGAGAGCAGGGGCAGAGAGCAGGCAGTCAGACAGAGTTGCCCAAGAGGAGAAGGAGGTGGAGGAGCGGAGTGGAGACCCAGCAGGGAAAGAGACAGAGAGAGAGAGAGTTAGAGAAAGCTGGAGGGAGGCAGTGGGGTGGGGAGAGGGGAGAAGGAAGAGGACCGGGTGCCCGCCAGGTCCTACCTGCTCTGCCACCTCTCGCACGGACTGGACGCTGGTCCCATAGAGGTGGCTGTTGTACTGGCCGGCCTCAATGAACTTGTGCGCCTGAATGTCCTTCTCCATTTTCTCCTGGGACGACACAAAGTGGTAATCCCGGCCATCTATCTCATACTCCCGCTTGGGCCGTGTCGTATCTGCCAGGAAGTCACCCCACCCCCCAAAGATCTAACCACCATCCCTCTAGCTTAAATCCTGCCTACTTCAATCAAATCCCCATAGTGCCCAGCTGGTCCTTTGGTGAAAGGGAGCTGCCAGGGAGACCAAGACTGCAGAGGGCCAGAACCGCTTCCCCTAGCACCCTCCAGGGCCTCCAAGTCTCTGGCCTGGGCATGGGTACTATGGAATGAGAGGGTGGCTGAGAAGCACCCCTTCTCGGAGAAACCCTGTATCTCCCTACACACCGATCCCCCAGGAGGCTCTGCCTATGGCCCCAGGGATGGGCCTCCCCTGCCCCACCCCCACTTCCACCTTCTCCTCCATCCAAGGCCCCAGCACTCACGGGGAACACAGGATCCAAACTTGTCGGGGAACTCGGAGAGAAGATCATCGTTGGCGCGGTCCTTGGTGGGCCCAAGGATGATGATGGGGCGAGCATAGTGCACTGCAGAGAGAGCCTGGCTTAGGCCGAGCGCAGGGTTGGGGGAGCAGCAAGTGCTGGGGCCAAGGCAGGGGCCAGGGCTCACCTTCCATCTGCGTCACTGTCTCGTAGCTCAGAACCGAGTCTTCTCGACCTGGTGGGAGGTGGGGCATCTGCAAGGGGCTCTGAAACAGGGGACCTGGAGCCCTGTCTCCCCCTTGAGGATATCAAAAGCAACTCAGTGCTCCTCTCACCCACATCTTCCCGAACTAACCCTACCTACCCTGCGATCCAGAGCTGGAGCCCCAGTCCTAAGAAGAAAAAGCAGGCCACGGGGTTAGTTATGAGCTCAGCTCCATGAGCCCTCACACTTCCACCCAGGCTCACACCCTCCTCCACCTACCTTGGCCTTTAACCTTGACCACTCTCGTCGCTCAACCCTGTGGGATACATGGAGGGATACGCGGGTAGGGGAATGCCTACCCCCTGCCACCCCCATGCTCTGAGCCAGCTGACAACCCCTTCTCCATACTCTGGGCCAGCTGACACCCCTTCTCCTGCAGCCCTGGACACTGTGCTCCTCAATAAGGAGTTGTCCTTCCCAAAGGCTCATGGGAGCCACGGACCCCAGGAGGGCCCAACAGACAAACCCCTAGGAGTTCAGAGGGCAAACCCATCCCCTGTTGGCTGCCCACCCCGGGGGACCTTGGGAACTTCAGTGCCTGTGGCAGGAAGGCTACAGAGCCCAGGAGCCTCACCGCCGTTTGCTGGGGATGAACCCAATGTCGTCGGTCTCACTGTCAGAGTGGACCCGCCGTGCCTGCCACCACTCCTCATCACTAGCATCGATGACATGCAGCACATCCCCAAAGCGGAAGCTCAGGGCCTGGCTCAGGAAGCCGCAGTCCTTGGTCTTGTCGTAATCAAACAGGGCCCTGGAGGGCAAGTGGCTATCGGTCAGAGCCCAGCTGAGGACTCCAGGAAGGATGCCCCAGTCACCCAAAGACCCGGCCCAGAGGTCTGCAGATGGCACTCCCATGGGAGCTATGGATGCCGAGGAACCCAAAACTGTGTGGGGACCAAACGCTGACTATAACTCATAACAACTATTAGCCATCACTCAGTCCACACTGAGCACAGTTTCCAGAGGCAGGGCTTGAACTTGACCCTCTCAAGAAAGCAGTTTGGGCCAGGCGTGGTGGCTCCCACCTGGAATCCCAGCTGACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATGGTGAAACCCCGTCTCTACTAAAAATACAAAATATTAGCCGGGCACGGTGGCGGGTGCCTGTATTCCCAGCTTCTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACGGAGCGAGACACCGTCTCAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAACAGAAAGCAGTGTGCAGTACACACGCACATCATAAAGTCACAGGGGTAAC
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Task1_train_23332
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Here is a variant affecting ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
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GGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCCTGCAGTTCCTCTCAGGCCCGGGAGGAATCCATCTGCCTGGGCACATGGTCTCTGGAAGGAACAGAGGGCAAAGACAGAAGGGAATGTTCAGGAAGGTCTCAGAGGCTTTACTAAGGGAGGGGCAGTGAATCTGGGGGGGTCTTCCTACTGTGAAACTGTAGCTGTTCCAAGAGTTAGTGAATGGCCTACATCTCAGAAGAATACACTTAGGGTACTCACACCCTAGCTTGGGTGCCCCCCACCACTGTACCCTCCCTTTTGTGTTGGCCGAGATAGATTTCATCAGGAACCCTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTG
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GGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCCTGCAGTTCCTCTCAGGCCCGGGAGGAATCCATCTGCCTGGGCACATGGTCTCTGGAAGGAACAGAGGGCAAAGACAGAAGGGAATGTTCAGGAAGGTCTCAGAGGCTTTACTAAGGGAGGGGCAGTGAATCTGGGGGGGTCTTCCTACTGTGAAACTGTAGCTGTTCCAAGAGTTAGTGAATGGCCTACATCTCAGAAGAATACACTTAGGGTACTCACACCCTAGCTTGGGTGCCCCCCACCACTGTACCCTCCCTTTTGTGTTGGCCGAGATAGATTTCATCAGGAACCCTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCTTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTG
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Task1_train_23333
|
Consider this mutation in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
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CCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCCTGCAGTTCCTCTCAGGCCCGGGAGGAATCCATCTGCCTGGGCACATGGTCTCTGGAAGGAACAGAGGGCAAAGACAGAAGGGAATGTTCAGGAAGGTCTCAGAGGCTTTACTAAGGGAGGGGCAGTGAATCTGGGGGGGTCTTCCTACTGTGAAACTGTAGCTGTTCCAAGAGTTAGTGAATGGCCTACATCTCAGAAGAATACACTTAGGGTACTCACACCCTAGCTTGGGTGCCCCCCACCACTGTACCCTCCCTTTTGTGTTGGCCGAGATAGATTTCATCAGGAACCCTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCC
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CCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCCTGCAGTTCCTCTCAGGCCCGGGAGGAATCCATCTGCCTGGGCACATGGTCTCTGGAAGGAACAGAGGGCAAAGACAGAAGGGAATGTTCAGGAAGGTCTCAGAGGCTTTACTAAGGGAGGGGCAGTGAATCTGGGGGGGTCTTCCTACTGTGAAACTGTAGCTGTTCCAAGAGTTAGTGAATGGCCTACATCTCAGAAGAATACACTTAGGGTACTCACACCCTAGCTTGGGTGCCCCCCACCACTGTACCCTCCCTTTTGTGTTGGCCGAGATAGATTTCATCAGGAACCCTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGGGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCC
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Task1_train_23334
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This alteration in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
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TTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGC
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TTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAACACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGC
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Task1_train_23335
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A variant was discovered in gene ACADVL (acyl-CoA dehydrogenase very long chain), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
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TCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCC
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TCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATGCCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCC
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Task1_train_23336
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An alteration has been detected in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
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CCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCAT
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CCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACGTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCAT
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Task1_train_23337
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With a mutation on Chromosome 17 in gene ACADVL (acyl-CoA dehydrogenase very long chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
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CCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATG
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CCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGACCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATG
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Task1_train_23338
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A sequence alteration has been identified in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
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GCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGG
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GCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACACCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGG
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Task1_train_23339
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This variant lies on Chromosome 17 and affects the gene ACADVL (acyl-CoA dehydrogenase very long chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
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CTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGG
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CTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGGTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGG
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Task1_train_23340
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A variant has been detected on Chromosome 17 in ACADVL (acyl-CoA dehydrogenase very long chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
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GGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCA
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GGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGCGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCA
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Task1_train_23341
|
This is a variant in ACADVL (acyl-CoA dehydrogenase very long chain), located on Chromosome 17. Is this mutation a likely cause of disease or not?
|
Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
|
AAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCT
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AAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGTCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCT
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Task1_train_23342
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A sequence alteration has been identified in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Inborn genetic diseases
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AAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCT
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AAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGTCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCT
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Task1_train_23343
|
Given a variant located on Chromosome 17 and affecting ACADVL (acyl-CoA dehydrogenase very long chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
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CCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAG
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CCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAACAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAG
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Task1_train_23344
|
Gene ACADVL (acyl-CoA dehydrogenase very long chain), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
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GGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAA
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GGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGGTGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAA
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Task1_train_23345
|
Gene ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
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CTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTG
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CTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGACTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTG
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Task1_train_23346
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A variant on Chromosome 17 in gene ACADVL (acyl-CoA dehydrogenase very long chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
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GCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTGGAAGCTTTGGCGGCTGGCTGTCAGTTCTGGGGGCACAGAGCCCAGGTCTCTGACTGGAGGGGCCCCCGGAGGCTGCACTGCTGGAGGGACTGGAGGTGGAGGTGGGGGCATCATGACCACCATCATGGGGTTGTAGGGGAGGGCCA
|
GCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCAGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTGGAAGCTTTGGCGGCTGGCTGTCAGTTCTGGGGGCACAGAGCCCAGGTCTCTGACTGGAGGGGCCCCCGGAGGCTGCACTGCTGGAGGGACTGGAGGTGGAGGTGGGGGCATCATGACCACCATCATGGGGTTGTAGGGGAGGGCCA
|
Task1_train_23347
|
A sequence alteration has been identified in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Is it disease-inducing or harmless?
|
Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
|
CTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTGGAAGCTTTGGCGGCTGGCTGTCAGTTCTGGGGGCACAGAGCCCAGGTCTCTGACTGGAGGGGCCCCCGGAGGCTGCACTGCTGGAGGGACTGGAGGTGGAGGTGGGGGCATCATGACCACCATCATGGGGTTGTAGGGGAGGGCCATGCCAGGGGGCGGTCCATAGGGATGGAGCCCTGGGTGGGCTCGGAGATTAGGGGCACCCCCAGTTGAGCCTCTGGATGGAGGAGGGCCCCCATCGCTAGTCCCACTTGCTTCCCCACCCCGCCGAAGGCTGCCCCCTCGGCTGGAGGGCTCAGACTCACTGCCACTGCCGGACTTGGACTCGGGGGCCCGCTCCTCGGGCCTCCCCGTGCGCCCTGCCCCCCCATCACTCCGTGTCGACCCACTGCTCCGGCTGCCTGTGGAGGGAGGGGAGGGGCAACTGAGTCCTCACCCAGGCTCCTCCCTGGCTCCCCTCTCATCCACCCTCAGATCCTGGCCGTACAGGTATGTGGGGATGACTTACCC
|
CTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTTAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTGGAAGCTTTGGCGGCTGGCTGTCAGTTCTGGGGGCACAGAGCCCAGGTCTCTGACTGGAGGGGCCCCCGGAGGCTGCACTGCTGGAGGGACTGGAGGTGGAGGTGGGGGCATCATGACCACCATCATGGGGTTGTAGGGGAGGGCCATGCCAGGGGGCGGTCCATAGGGATGGAGCCCTGGGTGGGCTCGGAGATTAGGGGCACCCCCAGTTGAGCCTCTGGATGGAGGAGGGCCCCCATCGCTAGTCCCACTTGCTTCCCCACCCCGCCGAAGGCTGCCCCCTCGGCTGGAGGGCTCAGACTCACTGCCACTGCCGGACTTGGACTCGGGGGCCCGCTCCTCGGGCCTCCCCGTGCGCCCTGCCCCCCCATCACTCCGTGTCGACCCACTGCTCCGGCTGCCTGTGGAGGGAGGGGAGGGGCAACTGAGTCCTCACCCAGGCTCCTCCCTGGCTCCCCTCTCATCCACCCTCAGATCCTGGCCGTACAGGTATGTGGGGATGACTTACCC
|
Task1_train_23348
|
Given this context: Chromosome 17, gene ACADVL (acyl-CoA dehydrogenase very long chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency
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CCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTGGAAGCTTTGGCGGCTGGCTGTCAGTTCTGGGGGCACAGAGCCCAGGTCTCTGACTGGAGGGGCCCCCGGAGGCTGCACTGCTGGAGGGACTGGAGGTGGAGGTGGGGGCATCATGACCACCATCATGGGGTTGTAGGGGAGGGCCATGCCAGGGGGCGGTCCATAGGGATGGAGCCCTGGGTGGGCTCGGAGATTAGGGGCACCCCCAGTTGAGCCTCTGGATGGAGGAGGGCCCCCATCGCTAGTCCCACTTGCTTCCCCACCCCGCCGAAGGCTGCCCCCTCGGCTGGAGGGCTCAGACTCACTGCCACTGCCGGACTTGGACTCGGGGGCCCGCTCCTCGGGCCTCCCCGTGCGCCCTGCCCCCCCATCACTCCGTGTCGACCCACTGCTCCGGCTGCCTGTGGAGGGAGGGGAGGGGCAACTGAGTCCTCACCCAGGCTCCTCCCTGGCTCCCCTCTCATCCACCCTCAGATCCTGGCCGTACAGGTATGTGGGGATGACTTACCCTCACTATGCTGGCTGCTGGCACTGCCCCCACCATAGGTGTAAGATGAAAGCTCATGGTAGGGTGGAGGCTGCGGGCTGTAGGGGTGTGGGGCAGGGTATTGGTAGGAGAAAGTGGGCAGCAGGGGCCAGGGGGTGGCCCCAGGCAGAGGAGCCAGGGTATCCTGGTCTGAAGCCCCACTGGAGCCATCGTTGTCATTGAGAGACAGGTTGACTAGGTCTGGAAAGCAAGGGAAGAGAGGAAGAAATCACTGCTTCAAGAGGCTAGGGCCCCAAGACACCGAATGGAGAGGAACTGGGAACAGTTCTCCCAGACCCACCCACGATGGGGCTCAAAACAGGGGTTCACAAGGGTCTCTGACAAGAAACTCCCATCTACTTCTGCCATGAGGGCAGGGGCACAGCCACTAGCCCACGTCTTTGCGGGACTCAGGTAAGAGGTGCACCTTCCCCCGGTGGACACAGTCCTGCACCTGGCACATGGCTTGTCCAGCAGCACATGGGTGGACGTCAGCCCCCATCCTCGGCCAGTGCAGGACCTAGTGCGGGACACACACTGCTCGACCATCCATGGTGGCCCTGGCTGCGGTTTCTG
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CCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCCGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTGGAAGCTTTGGCGGCTGGCTGTCAGTTCTGGGGGCACAGAGCCCAGGTCTCTGACTGGAGGGGCCCCCGGAGGCTGCACTGCTGGAGGGACTGGAGGTGGAGGTGGGGGCATCATGACCACCATCATGGGGTTGTAGGGGAGGGCCATGCCAGGGGGCGGTCCATAGGGATGGAGCCCTGGGTGGGCTCGGAGATTAGGGGCACCCCCAGTTGAGCCTCTGGATGGAGGAGGGCCCCCATCGCTAGTCCCACTTGCTTCCCCACCCCGCCGAAGGCTGCCCCCTCGGCTGGAGGGCTCAGACTCACTGCCACTGCCGGACTTGGACTCGGGGGCCCGCTCCTCGGGCCTCCCCGTGCGCCCTGCCCCCCCATCACTCCGTGTCGACCCACTGCTCCGGCTGCCTGTGGAGGGAGGGGAGGGGCAACTGAGTCCTCACCCAGGCTCCTCCCTGGCTCCCCTCTCATCCACCCTCAGATCCTGGCCGTACAGGTATGTGGGGATGACTTACCCTCACTATGCTGGCTGCTGGCACTGCCCCCACCATAGGTGTAAGATGAAAGCTCATGGTAGGGTGGAGGCTGCGGGCTGTAGGGGTGTGGGGCAGGGTATTGGTAGGAGAAAGTGGGCAGCAGGGGCCAGGGGGTGGCCCCAGGCAGAGGAGCCAGGGTATCCTGGTCTGAAGCCCCACTGGAGCCATCGTTGTCATTGAGAGACAGGTTGACTAGGTCTGGAAAGCAAGGGAAGAGAGGAAGAAATCACTGCTTCAAGAGGCTAGGGCCCCAAGACACCGAATGGAGAGGAACTGGGAACAGTTCTCCCAGACCCACCCACGATGGGGCTCAAAACAGGGGTTCACAAGGGTCTCTGACAAGAAACTCCCATCTACTTCTGCCATGAGGGCAGGGGCACAGCCACTAGCCCACGTCTTTGCGGGACTCAGGTAAGAGGTGCACCTTCCCCCGGTGGACACAGTCCTGCACCTGGCACATGGCTTGTCCAGCAGCACATGGGTGGACGTCAGCCCCCATCCTCGGCCAGTGCAGGACCTAGTGCGGGACACACACTGCTCGACCATCCATGGTGGCCCTGGCTGCGGTTTCTG
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Task1_train_23349
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Mutation context: Chromosome 17, Gene EIF5A (eukaryotic translation initiation factor 5A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Faundes-Banka syndrome
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TCGAGTCAGTGCGTTCGCGCGAGGTGAGAGCGGGCAGGGCGCGTGTGCGCGGTACCTTGGCTTGGGCCCGGGAGAAGATGGAACTGCGCGGGGGTCGGGGAGGGGGCAGAGGGGAGCGGCGGCCGCCGCCGCACGGGTTCGGCCAGAGAGCGGCGCGAGGTGAGGAGAGGCGCGGGCGCGCGCCCCGGTTGGCGCGCGGGGTGACGGTTGGGGTTGGCCCGGTGACGTTGGAGCGACGCAGGGCGGGGGACGGCGAGCCGCGAGGCAGCCACGCGGGAGAGGCCGCCAGGCGGCCACGCCGGGGCGAGGGCCAGGGGCCAGATCGGCCCACCGGGGCAAGGGTACCTGGGCCGTTGAGGACCCGGCTCAGCGCGGCCACGTGAGGTGGGGGAGGGGGCTATTCGGTGAGAGGGCATGATGGGGGGGGTTGGCGGACGGCCGGGGGGAGGGGAGGCGGCGTGGCTCCGGCCTGGCGCAGTCTCTGAGGAGGGGGCGGCCGCGGCACCGGAAGTGCCCCCCACGGGAGGCTGCCCTCGGGGTCGCAGGCCGCATGGCCAAGCGTGGACCGGGGCCGCATGGCAGCGCGGGGACCCCTCCCCCCAGGTCCCGGCCACCGGAAGCCCGGAACGGCCACATGGTCGGCAGGAGCCGGCAGCCCCTAGCGCGGGGAGCTAGTCCTCGCGGGGGTTCCGAGGGGGCCTGAGATTTTGAGGAGTGGAAGCCGGAGGCTCGGGTCCTAATCACCCCGGAGGGCCTGCTGCAGGCATATGTTAGCGCTTCCCAACCTCAAGGGCCCCAGGAGCTTTCCTGAAAAACCCTCCTGTGAAGTGTGGCGGTCAGCCAGGTGTAAGTGGCACCCCTTCGAGCTGGGAGGCCGGAGAAATGGGGAAACAGGGCGTTTGGACAGGAGCCCAACTTTTCTGTCGGCCTGGGTGGACAGCGCCTAAAAGCCTCAGGCAGATGAGTTTCCCACCGTGATAGGCGTTCTTCACCTTGTCACTGTCTTCCTGTTGTAACTGGTTTGGGAGTTCCACGGTTTCGAAGTCCTTAACTCTACTAGCCTAGTATGATTTTCTACTACTCACTACTACCAACCTTTTGCTTTCATTTTATTGTCATTCACCACCCCCCACCTCTCCCACTTTCTACTGACTGTACTGGCCCGGCCTGAAAAGCCGACAGGACAGATGCATCCTGGGAAAAGTGGGAGGGCCTTCCAGGAGAGGCTGGGTTCCTGGGTTCTCTTTGGGAACCAAGATCGAGGTGTTTGGCAGGGGGATCATTTCGGAAACAACTTTGCTTTCTCCCCCTTGGCTTGTTGCAAGTGCATGTTGGCGAGGCGGGAATCCCCCAAAGAGGCCTTGTGGTTTCCTGTAGCAGTGACTGGTTTGTGTGTGGATGGGGGGGGGCAGTGTAACAGATGGGTGGGGCCTTGTCCTCCGGTCTCCACCCTCCCCCCCCCCAATTAGCCCTGCCCTTTTGCTGGATCATAGCTGCTCACCTAATTATAGCCCTGGCTATATGTGGGGAAGAGGGGTGGTTGGTTTCAGTGGCAAGTAACACCTGAGTCCTCCCCACTCCCAGGAAGTAGGCCTTTTCTCATCTCTGAGATTTGACATTCCAGCTCCCTAGAGCCTTCCTTTCCCAAGCCACCACTTTAGCTTTGATTTATGGGGGAGAAACCAGCTATTCCACCCTCCCATACACACACCAGTTCTTGAGTATATTTGAGCCCAGTCAGTATTTTAAGTTCAGGAACTTTGACTTTATTTTAGGTGGGTAATGGAATAAAGAGTTGGGAAAATGTTTCTGGAGAGAAATGGGATAGATTGGAGGTCCTGTTGACCTCCATGCTTATTCACTTCAGTTCTCTTCTTGGCTCTAGTTGGAATCGAAGCCTCTTAAAATGGCAGATGACTTGGACTTCGAGACAGGAGATGCAGGGGCCTCAGCCACCTTCCCAATGCAGTGCTCAGCATTACGTAAGAATGGCTTTGTGGTGCTCAAAGGCCGGCCATGTAAGATCGTCGAGATGTCTACTTCGAAGACTGGCAAGCACGGCCACGCCAAGGTTAGAATTTCACCTCCGCATCTTGCCTTCCCCATGCCTCCAGTATCTTTGGCGCTCCCAGCAGCAAGCTGCCAACAGTGCTGACTTTCCTTTAACTCTGCTTTTACTGTCTGATTGTTTTTGTTTAGCGCTCAGCCTTCATACCCATTCAGACAACTACACCTGCTCCCCAGTCTTCAGCCTCTTCTGTGGTTACCCTTCTGTCCCCGCATCATTCTCTGGCAGTCCCTCCGTTTCTCCAGCTTTGTGCCAATCTCTTCAATTCATAGGCCTTTATGCTCTAGCTATTCAGTTGCTCCTTCCTTATTCTTGGTTTTCACTTTTTCTTTCTTCCCTTGAGCCGTTGTTAAGTGGTTGCTTCCATCACGTTGCCCAGGGTTTCTCCAATTCTACGCCTTCCCCTGGAGGGACTCCTGCGTCAATTCTGAGCTTTCAGGTCACCTTGCTGCTTCGTTCCCCAGTTCTAGCTTTCCCTTTGGAACTCTGACGCAGGATCAAACTGCCCCTACCTGCCCCATCCCACTCTCCTTGGGTTCCTTGAGCCTCCATGCTTTCATGGGTTTTAACATTCTTGCTAGCACTTCCCTCATCACCTCAGACTTTTCCTGTCTCTTTAGAATTTCAACCTGATTCGTTCTTGTTGAATTTCTTGTGGTGTTTTTCCTTAATCAGTTTTTCCATCTTTTGACTTGACATTGATCTTGGATTATTCTCTAGTGTCTGGATCCCTCTCTGTGCTCTTCTGGCTTCCTTATTTTCTAGCTACATAGTTATTTCTGATCTCCCTGCAAGTCCTTTTCTTCAGCTCTTTCACATTTCTTAGTTTCTTATCCTTTCCCTTCTACCTTCCTTATTCCCCAGTTTCTCAGCTCCTTCTCCTGGTGTCCGGAAAACTCTTCGAAACTTTTACTCAGACTCCTCCCACTCCCCTAGACTCTTAGCATCTTATCTTTTATCAAGGTAACTGTCTTCTCCAAGCCTGCCATGCAGTTTTCTATTGTGCTGTCAACCCCAATCTCAACGGTGGTTTTTTAGCCTCTGTTTTTTTTCTTTAAGAGGCTTTACTGTTTCTTGAGTTGACTGGTTCAATTCCAACACTCCAGTCTTTGCCCCAACAATGTAATTCTGACTTCCCTCATCAGGCAAGGTCAATTTGAGCCTTTATTTCCTCCGTTTTAGAGTTTGGTTGGGTTTCTCTTTGTGATGCATACATACAGGTCCATCTGGTTGGTATTGACATCTTTACTGGGAAGAAATATGAAGATATCTGCCCGTCAACTCATAATATGGATGTCCCCAACATCAAAAGGAATGACTTCCAGGTATGTAGATGGTCTGGATGAGGATGGGTTAGCGGTTTATGGTGGAGGGAGGGGTTGGGGGATAGGGACTGACCAGGAGAGCTTGTGCTGGGAGAGAGGAGGGAAATGGCAGGAGAGGGTGTTTGGTATTAGTTTGCTATCAGTCCAGTTTGTCTATCAGAGCCTTTACTGTCATGTCAGCCTCCCTGGGCCTACTACCTTCAGCCTCCTTCCCTATCTGCCCCCAGCTGATTGGCATCCAGGATGGGTACCTATCACTGCTCCAGGACAGCGGGGAGGTACGAGAGGACCTTCGTCTCCCTGAGGGAGACCTTGGCAAGGAGATTGAGCAGAAGTACGACTGTGGAGAAGAGATCCTGGTATGGTGCCTCCCTCCCTGCTTCTGTGCTCAGCTTTGTTCTGTACGTTTCTTCCTGAGCTCAGACATCTCTTGGCTATCCCTCTTGCTTCTCCAGATCACGGTGCTGTCTGCCATGACAGAGGAGGCAGCTGTTGCAATCAAGGCCATGGCAAAATAACTGGCTCCCAGGTGAGTGTGACAAATCCCTCACTGTCCCCTTCACATTTTGTTGTCCTCAGCAGAGCTGCTGTAGTCTTAATTGTTTCAGGCTTACTTTCTGCCCCTAGCCTGGCTCTGTCCTCCCTATCCTTCCTGTTGAAGGTATTATCCTGTCTTACTAATTTCTCTCTCCTACCTAGGGTG
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TCGAGTCAGTGCGTTCGCGCGAGGTGAGAGCGGGCAGGGCGCGTGTGCGCGGTACCTTGGCTTGGGCCCGGGAGAAGATGGAACTGCGCGGGGGTCGGGGAGGGGGCAGAGGGGAGCGGCGGCCGCCGCCGCACGGGTTCGGCCAGAGAGCGGCGCGAGGTGAGGAGAGGCGCGGGCGCGCGCCCCGGTTGGCGCGCGGGGTGACGGTTGGGGTTGGCCCGGTGACGTTGGAGCGACGCAGGGCGGGGGACGGCGAGCCGCGAGGCAGCCACGCGGGAGAGGCCGCCAGGCGGCCACGCCGGGGCGAGGGCCAGGGGCCAGATCGGCCCACCGGGGCAAGGGTACCTGGGCCGTTGAGGACCCGGCTCAGCGCGGCCACGTGAGGTGGGGGAGGGGGCTATTCGGTGAGAGGGCATGATGGGGGGGGTTGGCGGACGGCCGGGGGGAGGGGAGGCGGCGTGGCTCCGGCCTGGCGCAGTCTCTGAGGAGGGGGCGGCCGCGGCACCGGAAGTGCCCCCCACGGGAGGCTGCCCTCGGGGTCGCAGGCCGCATGGCCAAGCGTGGACCGGGGCCGCATGGCAGCGCGGGGACCCCTCCCCCCAGGTCCCGGCCACCGGAAGCCCGGAACGGCCACATGGTCGGCAGGAGCCGGCAGCCCCTAGCGCGGGGAGCTAGTCCTCGCGGGGGTTCCGAGGGGGCCTGAGATTTTGAGGAGTGGAAGCCGGAGGCTCGGGTCCTAATCACCCCGGAGGGCCTGCTGCAGGCATATGTTAGCGCTTCCCAACCTCAAGGGCCCCAGGAGCTTTCCTGAAAAACCCTCCTGTGAAGTGTGGCGGTCAGCCAGGTGTAAGTGGCACCCCTTCGAGCTGGGAGGCCGGAGAAATGGGGAAACAGGGCGTTTGGACAGGAGCCCAACTTTTCTGTCGGCCTGGGTGGACAGCGCCTAAAAGCCTCAGGCAGATGAGTTTCCCACCGTGATAGGCGTTCTTCACCTTGTCACTGTCTTCCTGTTGTAACTGGTTTGGGAGTTCCACGGTTTCGAAGTCCTTAACTCTACTAGCCTAGTATGATTTTCTACTACTCACTACTACCAACCTTTTGCTTTCATTTTATTGTCATTCACCACCCCCCACCTCTCCCACTTTCTACTGACTGTACTGGCCCGGCCTGAAAAGCCGACAGGACAGATGCATCCTGGGAAAAGTGGGAGGGCCTTCCAGGAGAGGCTGGGTTCCTGGGTTCTCTTTGGGAACCAAGATCGAGGTGTTTGGCAGGGGGATCATTTCGGAAACAACTTTGCTTTCTCCCCCTTGGCTTGTTGCAAGTGCATGTTGGCGAGGCGGGAATCCCCCAAAGAGGCCTTGTGGTTTCCTGTAGCAGTGACTGGTTTGTGTGTGGATGGGGGGGGGCAGTGTAACAGATGGGTGGGGCCTTGTCCTCCGGTCTCCACCCTCCCCCCCCCCAATTAGCCCTGCCCTTTTGCTGGATCATAGCTGCTCACCTAATTATAGCCCTGGCTATATGTGGGGAAGAGGGGTGGTTGGTTTCAGTGGCAAGTAACACCTGAGTCCTCCCCACTCCCAGGAAGTAGGCCTTTTCTCATCTCTGAGATTTGACATTCCAGCTCCCTAGAGCCTTCCTTTCCCAAGCCACCACTTTAGCTTTGATTTATGGGGGAGAAACCAGCTATTCCACCCTCCCATACACACACCAGTTCTTGAGTATATTTGAGCCCAGTCAGTATTTTAAGTTCAGGAACTTTGACTTTATTTTAGGTGGGTAATGGAATAAAGAGTTGGGAAAATGTTTCTGGAGAGAAATGGGATAGATTGGAGGTCCTGTTGACCTCCATGCTTATTCACTTCAGTTCTCTTCTTGGCTCTAGTTGGAATCGAAGCCTCTTAAAATGGCAGATGACTTGGACTTCGAGACAGGAGATGCAGGGGCCTCAGCCACCTTCCCAATGCAGTGCTCAGCATTACGTAAGAATGGCTTTGTGGTGCTCAAAGGCCGGCCATGTAAGATCGTCGAGATGTCTACTTCGAAGAATGGCAAGCACGGCCACGCCAAGGTTAGAATTTCACCTCCGCATCTTGCCTTCCCCATGCCTCCAGTATCTTTGGCGCTCCCAGCAGCAAGCTGCCAACAGTGCTGACTTTCCTTTAACTCTGCTTTTACTGTCTGATTGTTTTTGTTTAGCGCTCAGCCTTCATACCCATTCAGACAACTACACCTGCTCCCCAGTCTTCAGCCTCTTCTGTGGTTACCCTTCTGTCCCCGCATCATTCTCTGGCAGTCCCTCCGTTTCTCCAGCTTTGTGCCAATCTCTTCAATTCATAGGCCTTTATGCTCTAGCTATTCAGTTGCTCCTTCCTTATTCTTGGTTTTCACTTTTTCTTTCTTCCCTTGAGCCGTTGTTAAGTGGTTGCTTCCATCACGTTGCCCAGGGTTTCTCCAATTCTACGCCTTCCCCTGGAGGGACTCCTGCGTCAATTCTGAGCTTTCAGGTCACCTTGCTGCTTCGTTCCCCAGTTCTAGCTTTCCCTTTGGAACTCTGACGCAGGATCAAACTGCCCCTACCTGCCCCATCCCACTCTCCTTGGGTTCCTTGAGCCTCCATGCTTTCATGGGTTTTAACATTCTTGCTAGCACTTCCCTCATCACCTCAGACTTTTCCTGTCTCTTTAGAATTTCAACCTGATTCGTTCTTGTTGAATTTCTTGTGGTGTTTTTCCTTAATCAGTTTTTCCATCTTTTGACTTGACATTGATCTTGGATTATTCTCTAGTGTCTGGATCCCTCTCTGTGCTCTTCTGGCTTCCTTATTTTCTAGCTACATAGTTATTTCTGATCTCCCTGCAAGTCCTTTTCTTCAGCTCTTTCACATTTCTTAGTTTCTTATCCTTTCCCTTCTACCTTCCTTATTCCCCAGTTTCTCAGCTCCTTCTCCTGGTGTCCGGAAAACTCTTCGAAACTTTTACTCAGACTCCTCCCACTCCCCTAGACTCTTAGCATCTTATCTTTTATCAAGGTAACTGTCTTCTCCAAGCCTGCCATGCAGTTTTCTATTGTGCTGTCAACCCCAATCTCAACGGTGGTTTTTTAGCCTCTGTTTTTTTTCTTTAAGAGGCTTTACTGTTTCTTGAGTTGACTGGTTCAATTCCAACACTCCAGTCTTTGCCCCAACAATGTAATTCTGACTTCCCTCATCAGGCAAGGTCAATTTGAGCCTTTATTTCCTCCGTTTTAGAGTTTGGTTGGGTTTCTCTTTGTGATGCATACATACAGGTCCATCTGGTTGGTATTGACATCTTTACTGGGAAGAAATATGAAGATATCTGCCCGTCAACTCATAATATGGATGTCCCCAACATCAAAAGGAATGACTTCCAGGTATGTAGATGGTCTGGATGAGGATGGGTTAGCGGTTTATGGTGGAGGGAGGGGTTGGGGGATAGGGACTGACCAGGAGAGCTTGTGCTGGGAGAGAGGAGGGAAATGGCAGGAGAGGGTGTTTGGTATTAGTTTGCTATCAGTCCAGTTTGTCTATCAGAGCCTTTACTGTCATGTCAGCCTCCCTGGGCCTACTACCTTCAGCCTCCTTCCCTATCTGCCCCCAGCTGATTGGCATCCAGGATGGGTACCTATCACTGCTCCAGGACAGCGGGGAGGTACGAGAGGACCTTCGTCTCCCTGAGGGAGACCTTGGCAAGGAGATTGAGCAGAAGTACGACTGTGGAGAAGAGATCCTGGTATGGTGCCTCCCTCCCTGCTTCTGTGCTCAGCTTTGTTCTGTACGTTTCTTCCTGAGCTCAGACATCTCTTGGCTATCCCTCTTGCTTCTCCAGATCACGGTGCTGTCTGCCATGACAGAGGAGGCAGCTGTTGCAATCAAGGCCATGGCAAAATAACTGGCTCCCAGGTGAGTGTGACAAATCCCTCACTGTCCCCTTCACATTTTGTTGTCCTCAGCAGAGCTGCTGTAGTCTTAATTGTTTCAGGCTTACTTTCTGCCCCTAGCCTGGCTCTGTCCTCCCTATCCTTCCTGTTGAAGGTATTATCCTGTCTTACTAATTTCTCTCTCCTACCTAGGGTG
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Task1_train_23350
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A variant found in Chromosome 17 affects EIF5A (eukaryotic translation initiation factor 5A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Faundes-Banka syndrome
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CCCTAGAGCCTTCCTTTCCCAAGCCACCACTTTAGCTTTGATTTATGGGGGAGAAACCAGCTATTCCACCCTCCCATACACACACCAGTTCTTGAGTATATTTGAGCCCAGTCAGTATTTTAAGTTCAGGAACTTTGACTTTATTTTAGGTGGGTAATGGAATAAAGAGTTGGGAAAATGTTTCTGGAGAGAAATGGGATAGATTGGAGGTCCTGTTGACCTCCATGCTTATTCACTTCAGTTCTCTTCTTGGCTCTAGTTGGAATCGAAGCCTCTTAAAATGGCAGATGACTTGGACTTCGAGACAGGAGATGCAGGGGCCTCAGCCACCTTCCCAATGCAGTGCTCAGCATTACGTAAGAATGGCTTTGTGGTGCTCAAAGGCCGGCCATGTAAGATCGTCGAGATGTCTACTTCGAAGACTGGCAAGCACGGCCACGCCAAGGTTAGAATTTCACCTCCGCATCTTGCCTTCCCCATGCCTCCAGTATCTTTGGCGCTCCCAGCAGCAAGCTGCCAACAGTGCTGACTTTCCTTTAACTCTGCTTTTACTGTCTGATTGTTTTTGTTTAGCGCTCAGCCTTCATACCCATTCAGACAACTACACCTGCTCCCCAGTCTTCAGCCTCTTCTGTGGTTACCCTTCTGTCCCCGCATCATTCTCTGGCAGTCCCTCCGTTTCTCCAGCTTTGTGCCAATCTCTTCAATTCATAGGCCTTTATGCTCTAGCTATTCAGTTGCTCCTTCCTTATTCTTGGTTTTCACTTTTTCTTTCTTCCCTTGAGCCGTTGTTAAGTGGTTGCTTCCATCACGTTGCCCAGGGTTTCTCCAATTCTACGCCTTCCCCTGGAGGGACTCCTGCGTCAATTCTGAGCTTTCAGGTCACCTTGCTGCTTCGTTCCCCAGTTCTAGCTTTCCCTTTGGAACTCTGACGCAGGATCAAACTGCCCCTACCTGCCCCATCCCACTCTCCTTGGGTTCCTTGAGCCTCCATGCTTTCATGGGTTTTAACATTCTTGCTAGCACTTCCCTCATCACCTCAGACTTTTCCTGTCTCTTTAGAATTTCAACCTGATTCGTTCTTGTTGAATTTCTTGTGGTGTTTTTCCTTAATCAGTTTTTCCATCTTTTGACTTGACATTGATCTTGGATTATTCTCTAGTGTCTGGATCCCTCTCTGTGCTCTTCTGGCTTCCTTATTTTCTAGCTACATAGTTATTTCTGATCTCCCTGCAAGTCCTTTTCTTCAGCTCTTTCACATTTCTTAGTTTCTTATCCTTTCCCTTCTACCTTCCTTATTCCCCAGTTTCTCAGCTCCTTCTCCTGGTGTCCGGAAAACTCTTCGAAACTTTTACTCAGACTCCTCCCACTCCCCTAGACTCTTAGCATCTTATCTTTTATCAAGGTAACTGTCTTCTCCAAGCCTGCCATGCAGTTTTCTATTGTGCTGTCAACCCCAATCTCAACGGTGGTTTTTTAGCCTCTGTTTTTTTTCTTTAAGAGGCTTTACTGTTTCTTGAGTTGACTGGTTCAATTCCAACACTCCAGTCTTTGCCCCAACAATGTAATTCTGACTTCCCTCATCAGGCAAGGTCAATTTGAGCCTTTATTTCCTCCGTTTTAGAGTTTGGTTGGGTTTCTCTTTGTGATGCATACATACAGGTCCATCTGGTTGGTATTGACATCTTTACTGGGAAGAAATATGAAGATATCTGCCCGTCAACTCATAATATGGATGTCCCCAACATCAAAAGGAATGACTTCCAGGTATGTAGATGGTCTGGATGAGGATGGGTTAGCGGTTTATGGTGGAGGGAGGGGTTGGGGGATAGGGACTGACCAGGAGAGCTTGTGCTGGGAGAGAGGAGGGAAATGGCAGGAGAGGGTGTTTGGTATTAGTTTGCTATCAGTCCAGTTTGTCTATCAGAGCCTTTACTGTCATGTCAGCCTCCCTGGGCCTACTACCTTCAGCCTCCTTCCCTATCTGCCCCCAGCTGATTGGCATCCAGGATGGGTACCTATCACTGCTCCAGGACAGCGGGGAGGTACGAGAGGACCTTCGTCTCCCTGAGGGAGACCTTGGCAAGGAGATTGAGCAGAAGTACGACTGTGGAGAAGAGATCCTGGTATGGTGCCTCCCTCCCTGCTTCTGTGCTCAGCTTTGTTCTGTACGTTTCTTCCTGAGCTCAGACATCTCTTGGCTATCCCTCTTGCTTCTCCAGATCACGGTGCTGTCTGCCATGACAGAGGAGGCAGCTGTTGCAATCAAGGCCATGGCAAAATAACTGGCTCCCAGGTGAGTGTGACAAATCCCTCACTGTCCCCTTCACATTTTGTTGTCCTCAGCAGAGCTGCTGTAGTCTTAATTGTTTCAGGCTTACTTTCTGCCCCTAGCCTGGCTCTGTCCTCCCTATCCTTCCTGTTGAAGGTATTATCCTGTCTTACTAATTTCTCTCTCCTACCTAGGGTGGCGGTGGTGGCAGCAGTGATCCTCTGAACCTGCAGAGGCCCCCTCCCCGAGCCTGGCCTGGCTCTGGCCCGGTCCTAAGCTGGACTCCTCCTACACAATTTATTTGACGTTTTATTTTGGTTTTCCCCACCCCCTCAATCTGTCGGGGAGCCCCTGCCCTTCACCTAGCTCCCTTGGCCAGGAGCGAGCGAAGCTGTGGCCTTGGTGAAGCTGCCCTCCTCTTCTCCCCTCACACTACAGCCCTGGTGGGGGAGAAGGGGGTGGGTGCTGCTTGTGGTTTAGTCTTTTTTTTTTTTTTTTTTTTAATTCAATCTGGAATCAGAAAGCGGTGGATTCTGGCAAATGGTCCTTGTGCCCTCCCCACTCATCCCTGGTCTGGTCCCCTGTTGCCTATAGCCCTTTACCCTGAGCACCACCCCAACAGACTGGGGACCAGCCCCCTCGCCTGCCTGTGTCTCTCCCCAAACCCCTTTAGATGGGGAGGGAAGAGGAGGAGAGGGGAGGGGACCTGCCCCCTCCTCAGGCATCTGGGAGGGCCCTGCCCCCATGGGCTTTACCCTTCCCTGCGGGCTCTCTCCCCGACACATTTGTTAAAATCAAACCTGAATAAAACTACAAGTTTAATATGAAGCCCCCAACTCAGCTGCTTATTTGAATTAAATGGGTGTATTTGGAAGCCACAAAAAGACTGAACTCTGCCACTGAGTTCACTGGAACCCGCTGTCTATCACTTTGACTTGCTGTGGACCTGCCAGCCATCCCCCCACCCTCCAAGCAACCTTGACCTATTCCAGACAGTTGGGTGGGAGGCAACACAAACAGCAGCAGCCAGGGGCAGTGGCAGGTAGATTTTATTGGCCTGGGACACACAGGGGATACCCTCACCCACGATGGGGTGGGGGGTGTGGTGTTGAAGATATAATCTGATGGTCACTTGTGGTAGAATCGCGGGTTCTGGCTGTGTTGGATGAAGGGGAGCCGAGGGCCAGGTTGGCTGGTAGCTGCAAAGCCCGACTGGTGGTGGTGATGAAAAGAGGGCTTTGTCACTGGGCATACTCTCCCTTCCACTTAATACCCTACTGATAACCACCCCCAAAGAGGAAGGAAAAACCAGATGATGTGGGCCACCTGTCCTACCTAATCCTGCTTTTCCGGATCCCTAGTGTAGGGATTCTGACAGGTAAATTCTATTACCATTCTTACCTTTCCTGCTGGCTGCATCTGCACAGGGAGCTGGGGGGAAGCAAGGAGTCCAGGGGCTGGATGCAGAGCCTGGGGGTGCATGGGGCGCAGAGAGGACTGCAGAGAACAGAGTCAGGGCCTGAGGCATACTGAAGCTCCCCTTAACATATCCCTAACCCTGACCTCCCAAGGTGCCATACTCACTGAGTCGGAGAAGCCAGTCTGCTGGTTAGCATGTTCCATCTGCTTTTGCAAGGACAGGGCACCACCAGGCTGGAGGAAACCTAGGTGGGGAAGAGGGGCATGTGAGATGAGAATGAAACAGGGAGGGGAGGACCTGAGAGCTAGAGCTCCTGCATGGGATGTTATCACCTGTCTGAGTGGGCTGAAAGTGGCCATGCACAGCATAGGGCTGTGGCTGTGGCTGAGATAGGTACTGCACTG
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CCCTAGAGCCTTCCTTTCCCAAGCCACCACTTTAGCTTTGATTTATGGGGGAGAAACCAGCTATTCCACCCTCCCATACACACACCAGTTCTTGAGTATATTTGAGCCCAGTCAGTATTTTAAGTTCAGGAACTTTGACTTTATTTTAGGTGGGTAATGGAATAAAGAGTTGGGAAAATGTTTCTGGAGAGAAATGGGATAGATTGGAGGTCCTGTTGACCTCCATGCTTATTCACTTCAGTTCTCTTCTTGGCTCTAGTTGGAATCGAAGCCTCTTAAAATGGCAGATGACTTGGACTTCGAGACAGGAGATGCAGGGGCCTCAGCCACCTTCCCAATGCAGTGCTCAGCATTACGTAAGAATGGCTTTGTGGTGCTCAAAGGCCGGCCATGTAAGATCGTCGAGATGTCTACTTCGAAGACTGGCAAGCACGGCCACGCCAAGGTTAGAATTTCACCTCCGCATCTTGCCTTCCCCATGCCTCCAGTATCTTTGGCGCTCCCAGCAGCAAGCTGCCAACAGTGCTGACTTTCCTTTAACTCTGCTTTTACTGTCTGATTGTTTTTGTTTAGCGCTCAGCCTTCATACCCATTCAGACAACTACACCTGCTCCCCAGTCTTCAGCCTCTTCTGTGGTTACCCTTCTGTCCCCGCATCATTCTCTGGCAGTCCCTCCGTTTCTCCAGCTTTGTGCCAATCTCTTCAATTCATAGGCCTTTATGCTCTAGCTATTCAGTTGCTCCTTCCTTATTCTTGGTTTTCACTTTTTCTTTCTTCCCTTGAGCCGTTGTTAAGTGGTTGCTTCCATCACGTTGCCCAGGGTTTCTCCAATTCTACGCCTTCCCCTGGAGGGACTCCTGCGTCAATTCTGAGCTTTCAGGTCACCTTGCTGCTTCGTTCCCCAGTTCTAGCTTTCCCTTTGGAACTCTGACGCAGGATCAAACTGCCCCTACCTGCCCCATCCCACTCTCCTTGGGTTCCTTGAGCCTCCATGCTTTCATGGGTTTTAACATTCTTGCTAGCACTTCCCTCATCACCTCAGACTTTTCCTGTCTCTTTAGAATTTCAACCTGATTCGTTCTTGTTGAATTTCTTGTGGTGTTTTTCCTTAATCAGTTTTTCCATCTTTTGACTTGACATTGATCTTGGATTATTCTCTAGTGTCTGGATCCCTCTCTGTGCTCTTCTGGCTTCCTTATTTTCTAGCTACATAGTTATTTCTGATCTCCCTGCAAGTCCTTTTCTTCAGCTCTTTCACATTTCTTAGTTTCTTATCCTTTCCCTTCTACCTTCCTTATTCCCCAGTTTCTCAGCTCCTTCTCCTGGTGTCCGGAAAACTCTTCGAAACTTTTACTCAGACTCCTCCCACTCCCCTAGACTCTTAGCATCTTATCTTTTATCAAGGTAACTGTCTTCTCCAAGCCTGCCATGCAGTTTTCTATTGTGCTGTCAACCCCAATCTCAACGGTGGTTTTTTAGCCTCTGTTTTTTTTCTTTAAGAGGCTTTACTGTTTCTTGAGTTGACTGGTTCAATTCCAACACTCCAGTCTTTGCCCCAACAATGTAATTCTGACTTCCCTCATCAGGCAAGGTCAATTTGAGCCTTTATTTCCTCCGTTTTAGAGTTTGGTTGGGTTTCTCTTTGTGATGCATACATACAGGTCCATCTGGTTGGTATTGACATCTTTACTGGGAAGAAATATGAAGATATCTGCCCGTCAACTCATAATATGGATGTCCCCAACATCAAAAGGAATGACTTCCAGGTATGTAGATGGTCTGGATGAGGATGGGTTAGCGGTTTATGGTGGAGGGAGGGGTTGGGGGATAGGGACTGACCAGGAGAGCTTGTGCTGGGAGAGAGGAGGGAAATGGCAGGAGAGGGTGTTTGGTATTAGTTTGCTATCAGTCCAGTTTGTCTATCAGAGCCTTTACTGTCATGTCAGCCTCCCTGGGCCTACTACCTTCAGCCTCCTTCCCTATCTGCCCCCAGCTGATTGGCATCCAGGATGGGTACCTATCACTGCTCCAGGACAGCGGGGAGGTAGGAGAGGACCTTCGTCTCCCTGAGGGAGACCTTGGCAAGGAGATTGAGCAGAAGTACGACTGTGGAGAAGAGATCCTGGTATGGTGCCTCCCTCCCTGCTTCTGTGCTCAGCTTTGTTCTGTACGTTTCTTCCTGAGCTCAGACATCTCTTGGCTATCCCTCTTGCTTCTCCAGATCACGGTGCTGTCTGCCATGACAGAGGAGGCAGCTGTTGCAATCAAGGCCATGGCAAAATAACTGGCTCCCAGGTGAGTGTGACAAATCCCTCACTGTCCCCTTCACATTTTGTTGTCCTCAGCAGAGCTGCTGTAGTCTTAATTGTTTCAGGCTTACTTTCTGCCCCTAGCCTGGCTCTGTCCTCCCTATCCTTCCTGTTGAAGGTATTATCCTGTCTTACTAATTTCTCTCTCCTACCTAGGGTGGCGGTGGTGGCAGCAGTGATCCTCTGAACCTGCAGAGGCCCCCTCCCCGAGCCTGGCCTGGCTCTGGCCCGGTCCTAAGCTGGACTCCTCCTACACAATTTATTTGACGTTTTATTTTGGTTTTCCCCACCCCCTCAATCTGTCGGGGAGCCCCTGCCCTTCACCTAGCTCCCTTGGCCAGGAGCGAGCGAAGCTGTGGCCTTGGTGAAGCTGCCCTCCTCTTCTCCCCTCACACTACAGCCCTGGTGGGGGAGAAGGGGGTGGGTGCTGCTTGTGGTTTAGTCTTTTTTTTTTTTTTTTTTTTAATTCAATCTGGAATCAGAAAGCGGTGGATTCTGGCAAATGGTCCTTGTGCCCTCCCCACTCATCCCTGGTCTGGTCCCCTGTTGCCTATAGCCCTTTACCCTGAGCACCACCCCAACAGACTGGGGACCAGCCCCCTCGCCTGCCTGTGTCTCTCCCCAAACCCCTTTAGATGGGGAGGGAAGAGGAGGAGAGGGGAGGGGACCTGCCCCCTCCTCAGGCATCTGGGAGGGCCCTGCCCCCATGGGCTTTACCCTTCCCTGCGGGCTCTCTCCCCGACACATTTGTTAAAATCAAACCTGAATAAAACTACAAGTTTAATATGAAGCCCCCAACTCAGCTGCTTATTTGAATTAAATGGGTGTATTTGGAAGCCACAAAAAGACTGAACTCTGCCACTGAGTTCACTGGAACCCGCTGTCTATCACTTTGACTTGCTGTGGACCTGCCAGCCATCCCCCCACCCTCCAAGCAACCTTGACCTATTCCAGACAGTTGGGTGGGAGGCAACACAAACAGCAGCAGCCAGGGGCAGTGGCAGGTAGATTTTATTGGCCTGGGACACACAGGGGATACCCTCACCCACGATGGGGTGGGGGGTGTGGTGTTGAAGATATAATCTGATGGTCACTTGTGGTAGAATCGCGGGTTCTGGCTGTGTTGGATGAAGGGGAGCCGAGGGCCAGGTTGGCTGGTAGCTGCAAAGCCCGACTGGTGGTGGTGATGAAAAGAGGGCTTTGTCACTGGGCATACTCTCCCTTCCACTTAATACCCTACTGATAACCACCCCCAAAGAGGAAGGAAAAACCAGATGATGTGGGCCACCTGTCCTACCTAATCCTGCTTTTCCGGATCCCTAGTGTAGGGATTCTGACAGGTAAATTCTATTACCATTCTTACCTTTCCTGCTGGCTGCATCTGCACAGGGAGCTGGGGGGAAGCAAGGAGTCCAGGGGCTGGATGCAGAGCCTGGGGGTGCATGGGGCGCAGAGAGGACTGCAGAGAACAGAGTCAGGGCCTGAGGCATACTGAAGCTCCCCTTAACATATCCCTAACCCTGACCTCCCAAGGTGCCATACTCACTGAGTCGGAGAAGCCAGTCTGCTGGTTAGCATGTTCCATCTGCTTTTGCAAGGACAGGGCACCACCAGGCTGGAGGAAACCTAGGTGGGGAAGAGGGGCATGTGAGATGAGAATGAAACAGGGAGGGGAGGACCTGAGAGCTAGAGCTCCTGCATGGGATGTTATCACCTGTCTGAGTGGGCTGAAAGTGGCCATGCACAGCATAGGGCTGTGGCTGTGGCTGAGATAGGTACTGCACTG
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Task1_train_23351
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Consider this mutation in CHRNB1 (cholinergic receptor nicotinic beta 1 subunit) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; See cases
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CTTCTGACCTCAGGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACC
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CTTCTGACCTCAGGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGATGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACC
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Task1_train_23352
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This alteration occurs within gene CHRNB1 (cholinergic receptor nicotinic beta 1 subunit) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; Congenital myasthenic syndrome 2A
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GGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACCTCTCCCTCATTT
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GGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTATGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACCTCTCCCTCATTT
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Task1_train_23353
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A mutation on Chromosome 17 affecting CHRNB1 (cholinergic receptor nicotinic beta 1 subunit) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Congenital myasthenic syndrome 2C
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GGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACCTCTCCCTCATTT
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GGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTATGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACCTCTCCCTCATTT
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Task1_train_23354
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This variant lies on Chromosome 17 and affects the gene CHRNB1 (cholinergic receptor nicotinic beta 1 subunit). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Congenital myasthenic syndrome 2A
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GTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACCTCTCCCTCATTTG
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GTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTGCGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACCTCTCCCTCATTTG
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Task1_train_23355
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The following genetic variant occurs in POLR2A (RNA polymerase II subunit A) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
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TGGTCCAAATGGAAACCTGGCTTAAGTGGGCAGTGGGGCTCTGGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAAAGAAATTTATGCTTATTGTTAAGAACAAAAACAAAAATTTCAGTATTACAATGAATTTTTAATTAAAAGTTTTTGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCATCTCTACTGAAAAATACAAAAAATTAGCCGGGCGTAGTGGCATGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTTTTTGGGACTGGGCATGGTGACTCACACCTGTAATTCTAGCACTTTGGGAGGCCGAGGCAGGCACATCATTTGAGGCCAGGAGTTGGAGACAACTCTGGCCAACATAGAGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCGGACATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGAGAGGCTGTGGCAGGAGAATTGCTTGACCCCAGGAGGCGGAGGTTGCAGTGAGCCCTGATTGCACCATTGCACTCCAGCCTGGGTAAACAGCAAGACCCTGTCTCAAAAAATTAAAGGTTGGAAAAAACTTTTCCTGTCATCTTTGCCTCCAAAATCTGGCTTTCTCCCTTGGGCAGGGAAACCTCCCCAACATTTCTCTATCATCCCTGAGATGTGGGGCCTGCACTCTGACTTCTGTCTGCCTTACTCTTTGTCTTACAGGGTGAAGTGATGAACCTCCTGATGTTCCTGTCGACGTGGGATGGGAAGGTCCCACAGCCGGCCATCCTAAAGCCCCGGCCCCTGTGGACAGGCAAGCAAATCTTCTCCCTCATCATACCTGGTCACATCAATTGTATCCGTACCCACAGCACCCATCCCGATGATGAAGACAGTGGCCCTTACAAGCACATCTCTCCTGGGGACACCAAGGTAGGGCTTGGCTTCTGGATATGTGAGGACAGAATTTGGACGTGGGAGCCAGGACCAGAGCAGGGGCCTTGAGTGGGTGCTTTGTCCTTAGGTGGTGGTGGAGAATGGGGAGCTGATCATGGGCATCCTGTGTAAGAAGTCTCTGGGCACGTCAGCTGGCTCCCTGGTCCACATCTCCTACCTAGAGATGGGTCATGACATCACTCGCCTCTTCTACTCCAACATTCAGACTGTCATTAACAACTGGCTCCTCATCGAGGGTGAGCATGGAGGCGTGGTACCAAGACGTCTCTGTGAATTCTCTAACTTCTTACTGTCCTTCCATCCCTTTCTTTCCTCCTTGGATTTGGTGCCCCCTGCTTCTACTCTCTTGGCTATAATTCCATTCCATGTTTCTTAGAGGTCCAAAGGGGTTTGCTGATGTTTTTCCCTGTCTCTAGGTCATACTATTGGCATTGGGGACTCCATTGCTGATTCTAAGACTTACCAGGACATTCAGAACACTATTAAGAAGGCCAAGCAGGACGTAATAGAGGTAAGAGGGGAGGCCACCAGAGACGGAATAAGGGGTTTCCAGGGACTTCGAAGTTAGCATCATCAAGAGCAAAGGGAGTGTAAGGTTAGAGGGAAGGGGCAGAGAGTAGGGATTGATGTCTCACCGAGAACTCTGCCTCCAGGTCATCGAGAAGGCACACAACAATGAGCTGGAGCCCACCCCAGGGAACACTCTGCGGCAGACGTTTGAGAATCAGGTGAACCGCATTCTTAACGATGCCCGAGACAAGACTGGCTCCTCTGCTCAGAAATCCCTGTCTGAATACAATAACTTCAAGTCTATGGTCGTGTCCGGAGCTAAAGGTTCCAAGATTAACATCTCCCAGGTGAGAAGCCTTGTTTTTCCATATACGGGGCCGCTGTGAAGTTTGGGAGGAGGAAGGAAGGTGTTTGTATGTATTAGGGTCAGGAGAATCACGGGAGTTGGGGGAAATTTTGGGAACTGTTATTCTTAAGGCAGAGGGAATTCAGTATACACCACCTTTCTGTTTCCCAGGTCATTGCTGTCGTTGGACAGCAGAACGTCGAGGGCAAGCGGATTCCATTTGGCTTCAAGCACCGGACTCTGCCTCACTTCATCAAGGATGACTACGGGCCTGAGAGCCGTGGCTTTGTGGAGAACTCCTACCTAGCCGGCCTCACACCCACTGAGTTCTTTTTCCACGCCATGGGGGGTCGTGAGGGGCTCATTGACACGGCTGTCAAGACTGCTGAGACTGGTGAGGCTTTCCTCAGGGGTCTTCCTTGGGCTGTTAGCAGGGACTGCTGCAGGCTGAGAAACCCCTAACAGGTGGGGAGCGGAAATGCTCAGGCTCCTATTCCCAGGGTATAATTCTGGCCCTTGTGGAAAGAATAGAGTCTCAAGAGTAGGCAAACACCCTTGTTTGGATTGCTGTGCAGCATTGCACAGTGCAGGGACAGAGCTTCCGGGGCTCTGCCGGCCTGTCCCATGGGAGTGGTTCCTGCTGGGCTTTTTGTCCGTCTAGTGGTAGACACTGAGTTTGCATTCAAAGGCCTCAGACACAGAGAGTACTAGCTGACTCTTCTGACAGTCAGGTAGGTTAAGGCCCCAGCCTGGGTCTTTGGGCTTTATCATCCCCTTACTTCCCTCCAGGATACATCCAGCGGCGGCTGATCAAGTCCATGGAGTCAGTGATGGTGAAGTACGACGCGACTGTGCGGAACTCCATCAACCAGGTGGTGCAGCTGCGCTACGGCGAAGACGGCCTGGCAGGCGAGAGCGTTGAGTTCCAGAACCTGGCTACGCTTAAGCCTTCCAACAAGGCTTTTGAGAAGAAGTGAGGAGGCGGGCAGGCGGGTGGTTCTCGCCCCTGGGGCTCAGGGCCTGAGTAGTAGGATTCCCATACCTATTCCAGAGAGATAGCCTGGTATGTGTCTTGCACTAGAGCTTACCTTTCAGCATCCTTCCCCACCTATCTGAAACAGCTGTGTGACATGGGGGAGGTGGTGGATGGAGGTGGATTTAAGATTGGTCCCCACATCGTCCCTGCTGATATTATAAAGCAGATGCAGAGGGGTGGGCCTGTACTCAGGTCCCAGTGGCAGTCCTTGGGCCTGAATTTTTCTCTGTCCAGGATTCTTGCCTCCAAACCACTGTACTTGGTCGGCTGTGCACCTTTGGGAACCTTACAGTGCGTTTTGTGGGGACCAAGGTCCCAGAGCCCACCTGTCCACTAGCTACCCCTTGCACTTCCAGGTTCCGCTTTGATTATACCAATGAGAGGGCCCTGCGGCGCACTCTGCAGGAGGACCTGGTGAAGGACGTGCTGAGCAACGCACACATCCAGAACGAGTTGGAGCGGGAATTTGAGCGGATGCGGGAGGATCGGGAGGTGCTCAGGGTCATCTTCCCAACTGGAGACAGCAAGGTGCGTGTGGGTCGAAGTGCTGATGCTAGAGATGTGCCTCCCTGGATGGCTGTCCCCAGACACAGCCCTCCCTCCATTTCCCCCTCTCTCAGGTCGTCCTCCCCTGTAACCTGCTGCGGATGATCTGGAATGCTCAGAAAATCTTCCACATCAACCCACGCCTTCCCTCCGACCTGCACCCCATCAAAGTGGTGGAGGGTAAGTACCTGCTTAGGGGTCTCCAAGCCAGGCTAGGGGATAGGAGACTGCTGGGCCCTGGTCTAATGATCTCCTCACCTTTAATTGGTCCCCAGGAGTCAA
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TGGTCCAAATGGAAACCTGGCTTAAGTGGGCAGTGGGGCTCTGGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAAAGAAATTTATGCTTATTGTTAAGAACAAAAACAAAAATTTCAGTATTACAATGAATTTTTAATTAAAAGTTTTTGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCATCTCTACTGAAAAATACAAAAAATTAGCCGGGCGTAGTGGCATGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTTTTTGGGACTGGGCATGGTGACTCACACCTGTAATTCTAGCACTTTGGGAGGCCGAGGCAGGCACATCATTTGAGGCCAGGAGTTGGAGACAACTCTGGCCAACATAGAGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCGGACATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGAGAGGCTGTGGCAGGAGAATTGCTTGACCCCAGGAGGCGGAGGTTGCAGTGAGCCCTGATTGCACCATTGCACTCCAGCCTGGGTAAACAGCAAGACCCTGTCTCAAAAAATTAAAGGTTGGAAAAAACTTTTCCTGTCATCTTTGCCTCCAAAATCTGGCTTTCTCCCTTGGGCAGGGAAACCTCCCCAACATTTCTCTATCATCCCTGAGATGTGGGGCCTGCACTCTGACTTCTGTCTGCCTTACTCTTTGTCTTACAGGGTGAAGTGATGAACCTCCTGATGTTCCTGTCGACGTGGGATGGGAAGGTCCCACAGCCGGCCATCCTAAAGCCCCGGCCCCTGTGGACAGGCAAGCAAATCTTCTCCCTCATCATACCTGGTCACATCAATTGTATCCGTACCCACAGCACCCATCCCGATGATGAAGACAGTGGCCCTTACAAGCACATCTCTCCTGGGGACACCAAGGTAGGGCTTGGCTTCTGGATATGTGAGGACAGAATTTGGACGTGGGAGCCAGGACCAGAGCAGGGGCCTTGAGTGGGTGCTTTGTCCTTAGGTGGTGGTGGAGAATGGGGAGCTGATCATGGGCATCCTGTGTAAGAAGTCTCTGGGCACGTCAGCTGGCTCCCTGGTCCACATCTCCTACCTAGAGATGGGTCATGACATCACTCGCCTCTTCTACTCCAACATTCAGACTGTCATTAACAACTGGCTCCTCATCGAGGGTGAGCATGGAGGCGTGGTACCAAGACGTCTCTGTGAATTCTCTAACTTCTTACTGTCCTTCCATCCCTTTCTTTCCTCCTTGGATTTGGTGCCCCCTGCTTCTACTCTCTTGGCTATAATTCCATTCCATGTTTCTTAGAGGTCCAAAGGGGTTTGCTGATGTTTTTCCCTGTCTCTAGGTCATACTATTGGCATTGGGGACTCCATTGCTGATTCTAAGACTTACCAGGACATTCAGAACACTATTAAGAAGGCCAAGCAGGACGTAATAGAGGTAAGAGGGGAGGCCACCAGAGACGGAATAAGGGGTTTCCAGGGACTTCGAAGTTAGCATCATCAAGAGCAAAGGGAGTGTAAGGTTAGAGGGAAGGGGCAGAGAGTAGGGATTGATGTCTCACCGAGAACTCTGCCTCCAGGTCATCGAGAAGGCACACAGCAATGAGCTGGAGCCCACCCCAGGGAACACTCTGCGGCAGACGTTTGAGAATCAGGTGAACCGCATTCTTAACGATGCCCGAGACAAGACTGGCTCCTCTGCTCAGAAATCCCTGTCTGAATACAATAACTTCAAGTCTATGGTCGTGTCCGGAGCTAAAGGTTCCAAGATTAACATCTCCCAGGTGAGAAGCCTTGTTTTTCCATATACGGGGCCGCTGTGAAGTTTGGGAGGAGGAAGGAAGGTGTTTGTATGTATTAGGGTCAGGAGAATCACGGGAGTTGGGGGAAATTTTGGGAACTGTTATTCTTAAGGCAGAGGGAATTCAGTATACACCACCTTTCTGTTTCCCAGGTCATTGCTGTCGTTGGACAGCAGAACGTCGAGGGCAAGCGGATTCCATTTGGCTTCAAGCACCGGACTCTGCCTCACTTCATCAAGGATGACTACGGGCCTGAGAGCCGTGGCTTTGTGGAGAACTCCTACCTAGCCGGCCTCACACCCACTGAGTTCTTTTTCCACGCCATGGGGGGTCGTGAGGGGCTCATTGACACGGCTGTCAAGACTGCTGAGACTGGTGAGGCTTTCCTCAGGGGTCTTCCTTGGGCTGTTAGCAGGGACTGCTGCAGGCTGAGAAACCCCTAACAGGTGGGGAGCGGAAATGCTCAGGCTCCTATTCCCAGGGTATAATTCTGGCCCTTGTGGAAAGAATAGAGTCTCAAGAGTAGGCAAACACCCTTGTTTGGATTGCTGTGCAGCATTGCACAGTGCAGGGACAGAGCTTCCGGGGCTCTGCCGGCCTGTCCCATGGGAGTGGTTCCTGCTGGGCTTTTTGTCCGTCTAGTGGTAGACACTGAGTTTGCATTCAAAGGCCTCAGACACAGAGAGTACTAGCTGACTCTTCTGACAGTCAGGTAGGTTAAGGCCCCAGCCTGGGTCTTTGGGCTTTATCATCCCCTTACTTCCCTCCAGGATACATCCAGCGGCGGCTGATCAAGTCCATGGAGTCAGTGATGGTGAAGTACGACGCGACTGTGCGGAACTCCATCAACCAGGTGGTGCAGCTGCGCTACGGCGAAGACGGCCTGGCAGGCGAGAGCGTTGAGTTCCAGAACCTGGCTACGCTTAAGCCTTCCAACAAGGCTTTTGAGAAGAAGTGAGGAGGCGGGCAGGCGGGTGGTTCTCGCCCCTGGGGCTCAGGGCCTGAGTAGTAGGATTCCCATACCTATTCCAGAGAGATAGCCTGGTATGTGTCTTGCACTAGAGCTTACCTTTCAGCATCCTTCCCCACCTATCTGAAACAGCTGTGTGACATGGGGGAGGTGGTGGATGGAGGTGGATTTAAGATTGGTCCCCACATCGTCCCTGCTGATATTATAAAGCAGATGCAGAGGGGTGGGCCTGTACTCAGGTCCCAGTGGCAGTCCTTGGGCCTGAATTTTTCTCTGTCCAGGATTCTTGCCTCCAAACCACTGTACTTGGTCGGCTGTGCACCTTTGGGAACCTTACAGTGCGTTTTGTGGGGACCAAGGTCCCAGAGCCCACCTGTCCACTAGCTACCCCTTGCACTTCCAGGTTCCGCTTTGATTATACCAATGAGAGGGCCCTGCGGCGCACTCTGCAGGAGGACCTGGTGAAGGACGTGCTGAGCAACGCACACATCCAGAACGAGTTGGAGCGGGAATTTGAGCGGATGCGGGAGGATCGGGAGGTGCTCAGGGTCATCTTCCCAACTGGAGACAGCAAGGTGCGTGTGGGTCGAAGTGCTGATGCTAGAGATGTGCCTCCCTGGATGGCTGTCCCCAGACACAGCCCTCCCTCCATTTCCCCCTCTCTCAGGTCGTCCTCCCCTGTAACCTGCTGCGGATGATCTGGAATGCTCAGAAAATCTTCCACATCAACCCACGCCTTCCCTCCGACCTGCACCCCATCAAAGTGGTGGAGGGTAAGTACCTGCTTAGGGGTCTCCAAGCCAGGCTAGGGGATAGGAGACTGCTGGGCCCTGGTCTAATGATCTCCTCACCTTTAATTGGTCCCCAGGAGTCAA
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Task1_train_23356
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This alteration occurs within gene POLR2A (RNA polymerase II subunit A) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; Inborn genetic diseases
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TGGTCCAAATGGAAACCTGGCTTAAGTGGGCAGTGGGGCTCTGGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAAAGAAATTTATGCTTATTGTTAAGAACAAAAACAAAAATTTCAGTATTACAATGAATTTTTAATTAAAAGTTTTTGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCATCTCTACTGAAAAATACAAAAAATTAGCCGGGCGTAGTGGCATGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTTTTTGGGACTGGGCATGGTGACTCACACCTGTAATTCTAGCACTTTGGGAGGCCGAGGCAGGCACATCATTTGAGGCCAGGAGTTGGAGACAACTCTGGCCAACATAGAGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCGGACATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGAGAGGCTGTGGCAGGAGAATTGCTTGACCCCAGGAGGCGGAGGTTGCAGTGAGCCCTGATTGCACCATTGCACTCCAGCCTGGGTAAACAGCAAGACCCTGTCTCAAAAAATTAAAGGTTGGAAAAAACTTTTCCTGTCATCTTTGCCTCCAAAATCTGGCTTTCTCCCTTGGGCAGGGAAACCTCCCCAACATTTCTCTATCATCCCTGAGATGTGGGGCCTGCACTCTGACTTCTGTCTGCCTTACTCTTTGTCTTACAGGGTGAAGTGATGAACCTCCTGATGTTCCTGTCGACGTGGGATGGGAAGGTCCCACAGCCGGCCATCCTAAAGCCCCGGCCCCTGTGGACAGGCAAGCAAATCTTCTCCCTCATCATACCTGGTCACATCAATTGTATCCGTACCCACAGCACCCATCCCGATGATGAAGACAGTGGCCCTTACAAGCACATCTCTCCTGGGGACACCAAGGTAGGGCTTGGCTTCTGGATATGTGAGGACAGAATTTGGACGTGGGAGCCAGGACCAGAGCAGGGGCCTTGAGTGGGTGCTTTGTCCTTAGGTGGTGGTGGAGAATGGGGAGCTGATCATGGGCATCCTGTGTAAGAAGTCTCTGGGCACGTCAGCTGGCTCCCTGGTCCACATCTCCTACCTAGAGATGGGTCATGACATCACTCGCCTCTTCTACTCCAACATTCAGACTGTCATTAACAACTGGCTCCTCATCGAGGGTGAGCATGGAGGCGTGGTACCAAGACGTCTCTGTGAATTCTCTAACTTCTTACTGTCCTTCCATCCCTTTCTTTCCTCCTTGGATTTGGTGCCCCCTGCTTCTACTCTCTTGGCTATAATTCCATTCCATGTTTCTTAGAGGTCCAAAGGGGTTTGCTGATGTTTTTCCCTGTCTCTAGGTCATACTATTGGCATTGGGGACTCCATTGCTGATTCTAAGACTTACCAGGACATTCAGAACACTATTAAGAAGGCCAAGCAGGACGTAATAGAGGTAAGAGGGGAGGCCACCAGAGACGGAATAAGGGGTTTCCAGGGACTTCGAAGTTAGCATCATCAAGAGCAAAGGGAGTGTAAGGTTAGAGGGAAGGGGCAGAGAGTAGGGATTGATGTCTCACCGAGAACTCTGCCTCCAGGTCATCGAGAAGGCACACAACAATGAGCTGGAGCCCACCCCAGGGAACACTCTGCGGCAGACGTTTGAGAATCAGGTGAACCGCATTCTTAACGATGCCCGAGACAAGACTGGCTCCTCTGCTCAGAAATCCCTGTCTGAATACAATAACTTCAAGTCTATGGTCGTGTCCGGAGCTAAAGGTTCCAAGATTAACATCTCCCAGGTGAGAAGCCTTGTTTTTCCATATACGGGGCCGCTGTGAAGTTTGGGAGGAGGAAGGAAGGTGTTTGTATGTATTAGGGTCAGGAGAATCACGGGAGTTGGGGGAAATTTTGGGAACTGTTATTCTTAAGGCAGAGGGAATTCAGTATACACCACCTTTCTGTTTCCCAGGTCATTGCTGTCGTTGGACAGCAGAACGTCGAGGGCAAGCGGATTCCATTTGGCTTCAAGCACCGGACTCTGCCTCACTTCATCAAGGATGACTACGGGCCTGAGAGCCGTGGCTTTGTGGAGAACTCCTACCTAGCCGGCCTCACACCCACTGAGTTCTTTTTCCACGCCATGGGGGGTCGTGAGGGGCTCATTGACACGGCTGTCAAGACTGCTGAGACTGGTGAGGCTTTCCTCAGGGGTCTTCCTTGGGCTGTTAGCAGGGACTGCTGCAGGCTGAGAAACCCCTAACAGGTGGGGAGCGGAAATGCTCAGGCTCCTATTCCCAGGGTATAATTCTGGCCCTTGTGGAAAGAATAGAGTCTCAAGAGTAGGCAAACACCCTTGTTTGGATTGCTGTGCAGCATTGCACAGTGCAGGGACAGAGCTTCCGGGGCTCTGCCGGCCTGTCCCATGGGAGTGGTTCCTGCTGGGCTTTTTGTCCGTCTAGTGGTAGACACTGAGTTTGCATTCAAAGGCCTCAGACACAGAGAGTACTAGCTGACTCTTCTGACAGTCAGGTAGGTTAAGGCCCCAGCCTGGGTCTTTGGGCTTTATCATCCCCTTACTTCCCTCCAGGATACATCCAGCGGCGGCTGATCAAGTCCATGGAGTCAGTGATGGTGAAGTACGACGCGACTGTGCGGAACTCCATCAACCAGGTGGTGCAGCTGCGCTACGGCGAAGACGGCCTGGCAGGCGAGAGCGTTGAGTTCCAGAACCTGGCTACGCTTAAGCCTTCCAACAAGGCTTTTGAGAAGAAGTGAGGAGGCGGGCAGGCGGGTGGTTCTCGCCCCTGGGGCTCAGGGCCTGAGTAGTAGGATTCCCATACCTATTCCAGAGAGATAGCCTGGTATGTGTCTTGCACTAGAGCTTACCTTTCAGCATCCTTCCCCACCTATCTGAAACAGCTGTGTGACATGGGGGAGGTGGTGGATGGAGGTGGATTTAAGATTGGTCCCCACATCGTCCCTGCTGATATTATAAAGCAGATGCAGAGGGGTGGGCCTGTACTCAGGTCCCAGTGGCAGTCCTTGGGCCTGAATTTTTCTCTGTCCAGGATTCTTGCCTCCAAACCACTGTACTTGGTCGGCTGTGCACCTTTGGGAACCTTACAGTGCGTTTTGTGGGGACCAAGGTCCCAGAGCCCACCTGTCCACTAGCTACCCCTTGCACTTCCAGGTTCCGCTTTGATTATACCAATGAGAGGGCCCTGCGGCGCACTCTGCAGGAGGACCTGGTGAAGGACGTGCTGAGCAACGCACACATCCAGAACGAGTTGGAGCGGGAATTTGAGCGGATGCGGGAGGATCGGGAGGTGCTCAGGGTCATCTTCCCAACTGGAGACAGCAAGGTGCGTGTGGGTCGAAGTGCTGATGCTAGAGATGTGCCTCCCTGGATGGCTGTCCCCAGACACAGCCCTCCCTCCATTTCCCCCTCTCTCAGGTCGTCCTCCCCTGTAACCTGCTGCGGATGATCTGGAATGCTCAGAAAATCTTCCACATCAACCCACGCCTTCCCTCCGACCTGCACCCCATCAAAGTGGTGGAGGGTAAGTACCTGCTTAGGGGTCTCCAAGCCAGGCTAGGGGATAGGAGACTGCTGGGCCCTGGTCTAATGATCTCCTCACCTTTAATTGGTCCCCAGGAGTCAA
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TGGTCCAAATGGAAACCTGGCTTAAGTGGGCAGTGGGGCTCTGGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAAAGAAATTTATGCTTATTGTTAAGAACAAAAACAAAAATTTCAGTATTACAATGAATTTTTAATTAAAAGTTTTTGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCATCTCTACTGAAAAATACAAAAAATTAGCCGGGCGTAGTGGCATGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTTTTTGGGACTGGGCATGGTGACTCACACCTGTAATTCTAGCACTTTGGGAGGCCGAGGCAGGCACATCATTTGAGGCCAGGAGTTGGAGACAACTCTGGCCAACATAGAGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCGGACATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGAGAGGCTGTGGCAGGAGAATTGCTTGACCCCAGGAGGCGGAGGTTGCAGTGAGCCCTGATTGCACCATTGCACTCCAGCCTGGGTAAACAGCAAGACCCTGTCTCAAAAAATTAAAGGTTGGAAAAAACTTTTCCTGTCATCTTTGCCTCCAAAATCTGGCTTTCTCCCTTGGGCAGGGAAACCTCCCCAACATTTCTCTATCATCCCTGAGATGTGGGGCCTGCACTCTGACTTCTGTCTGCCTTACTCTTTGTCTTACAGGGTGAAGTGATGAACCTCCTGATGTTCCTGTCGACGTGGGATGGGAAGGTCCCACAGCCGGCCATCCTAAAGCCCCGGCCCCTGTGGACAGGCAAGCAAATCTTCTCCCTCATCATACCTGGTCACATCAATTGTATCCGTACCCACAGCACCCATCCCGATGATGAAGACAGTGGCCCTTACAAGCACATCTCTCCTGGGGACACCAAGGTAGGGCTTGGCTTCTGGATATGTGAGGACAGAATTTGGACGTGGGAGCCAGGACCAGAGCAGGGGCCTTGAGTGGGTGCTTTGTCCTTAGGTGGTGGTGGAGAATGGGGAGCTGATCATGGGCATCCTGTGTAAGAAGTCTCTGGGCACGTCAGCTGGCTCCCTGGTCCACATCTCCTACCTAGAGATGGGTCATGACATCACTCGCCTCTTCTACTCCAACATTCAGACTGTCATTAACAACTGGCTCCTCATCGAGGGTGAGCATGGAGGCGTGGTACCAAGACGTCTCTGTGAATTCTCTAACTTCTTACTGTCCTTCCATCCCTTTCTTTCCTCCTTGGATTTGGTGCCCCCTGCTTCTACTCTCTTGGCTATAATTCCATTCCATGTTTCTTAGAGGTCCAAAGGGGTTTGCTGATGTTTTTCCCTGTCTCTAGGTCATACTATTGGCATTGGGGACTCCATTGCTGATTCTAAGACTTACCAGGACATTCAGAACACTATTAAGAAGGCCAAGCAGGACGTAATAGAGGTAAGAGGGGAGGCCACCAGAGACGGAATAAGGGGTTTCCAGGGACTTCGAAGTTAGCATCATCAAGAGCAAAGGGAGTGTAAGGTTAGAGGGAAGGGGCAGAGAGTAGGGATTGATGTCTCACCGAGAACTCTGCCTCCAGGTCATCGAGAAGGCACACAGCAATGAGCTGGAGCCCACCCCAGGGAACACTCTGCGGCAGACGTTTGAGAATCAGGTGAACCGCATTCTTAACGATGCCCGAGACAAGACTGGCTCCTCTGCTCAGAAATCCCTGTCTGAATACAATAACTTCAAGTCTATGGTCGTGTCCGGAGCTAAAGGTTCCAAGATTAACATCTCCCAGGTGAGAAGCCTTGTTTTTCCATATACGGGGCCGCTGTGAAGTTTGGGAGGAGGAAGGAAGGTGTTTGTATGTATTAGGGTCAGGAGAATCACGGGAGTTGGGGGAAATTTTGGGAACTGTTATTCTTAAGGCAGAGGGAATTCAGTATACACCACCTTTCTGTTTCCCAGGTCATTGCTGTCGTTGGACAGCAGAACGTCGAGGGCAAGCGGATTCCATTTGGCTTCAAGCACCGGACTCTGCCTCACTTCATCAAGGATGACTACGGGCCTGAGAGCCGTGGCTTTGTGGAGAACTCCTACCTAGCCGGCCTCACACCCACTGAGTTCTTTTTCCACGCCATGGGGGGTCGTGAGGGGCTCATTGACACGGCTGTCAAGACTGCTGAGACTGGTGAGGCTTTCCTCAGGGGTCTTCCTTGGGCTGTTAGCAGGGACTGCTGCAGGCTGAGAAACCCCTAACAGGTGGGGAGCGGAAATGCTCAGGCTCCTATTCCCAGGGTATAATTCTGGCCCTTGTGGAAAGAATAGAGTCTCAAGAGTAGGCAAACACCCTTGTTTGGATTGCTGTGCAGCATTGCACAGTGCAGGGACAGAGCTTCCGGGGCTCTGCCGGCCTGTCCCATGGGAGTGGTTCCTGCTGGGCTTTTTGTCCGTCTAGTGGTAGACACTGAGTTTGCATTCAAAGGCCTCAGACACAGAGAGTACTAGCTGACTCTTCTGACAGTCAGGTAGGTTAAGGCCCCAGCCTGGGTCTTTGGGCTTTATCATCCCCTTACTTCCCTCCAGGATACATCCAGCGGCGGCTGATCAAGTCCATGGAGTCAGTGATGGTGAAGTACGACGCGACTGTGCGGAACTCCATCAACCAGGTGGTGCAGCTGCGCTACGGCGAAGACGGCCTGGCAGGCGAGAGCGTTGAGTTCCAGAACCTGGCTACGCTTAAGCCTTCCAACAAGGCTTTTGAGAAGAAGTGAGGAGGCGGGCAGGCGGGTGGTTCTCGCCCCTGGGGCTCAGGGCCTGAGTAGTAGGATTCCCATACCTATTCCAGAGAGATAGCCTGGTATGTGTCTTGCACTAGAGCTTACCTTTCAGCATCCTTCCCCACCTATCTGAAACAGCTGTGTGACATGGGGGAGGTGGTGGATGGAGGTGGATTTAAGATTGGTCCCCACATCGTCCCTGCTGATATTATAAAGCAGATGCAGAGGGGTGGGCCTGTACTCAGGTCCCAGTGGCAGTCCTTGGGCCTGAATTTTTCTCTGTCCAGGATTCTTGCCTCCAAACCACTGTACTTGGTCGGCTGTGCACCTTTGGGAACCTTACAGTGCGTTTTGTGGGGACCAAGGTCCCAGAGCCCACCTGTCCACTAGCTACCCCTTGCACTTCCAGGTTCCGCTTTGATTATACCAATGAGAGGGCCCTGCGGCGCACTCTGCAGGAGGACCTGGTGAAGGACGTGCTGAGCAACGCACACATCCAGAACGAGTTGGAGCGGGAATTTGAGCGGATGCGGGAGGATCGGGAGGTGCTCAGGGTCATCTTCCCAACTGGAGACAGCAAGGTGCGTGTGGGTCGAAGTGCTGATGCTAGAGATGTGCCTCCCTGGATGGCTGTCCCCAGACACAGCCCTCCCTCCATTTCCCCCTCTCTCAGGTCGTCCTCCCCTGTAACCTGCTGCGGATGATCTGGAATGCTCAGAAAATCTTCCACATCAACCCACGCCTTCCCTCCGACCTGCACCCCATCAAAGTGGTGGAGGGTAAGTACCTGCTTAGGGGTCTCCAAGCCAGGCTAGGGGATAGGAGACTGCTGGGCCCTGGTCTAATGATCTCCTCACCTTTAATTGGTCCCCAGGAGTCAA
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Task1_train_23357
|
Given this context: Chromosome 17, gene POLR2A (RNA polymerase II subunit A) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
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GGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAAAGAAATTTATGCTTATTGTTAAGAACAAAAACAAAAATTTCAGTATTACAATGAATTTTTAATTAAAAGTTTTTGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCATCTCTACTGAAAAATACAAAAAATTAGCCGGGCGTAGTGGCATGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTTTTTGGGACTGGGCATGGTGACTCACACCTGTAATTCTAGCACTTTGGGAGGCCGAGGCAGGCACATCATTTGAGGCCAGGAGTTGGAGACAACTCTGGCCAACATAGAGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCGGACATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGAGAGGCTGTGGCAGGAGAATTGCTTGACCCCAGGAGGCGGAGGTTGCAGTGAGCCCTGATTGCACCATTGCACTCCAGCCTGGGTAAACAGCAAGACCCTGTCTCAAAAAATTAAAGGTTGGAAAAAACTTTTCCTGTCATCTTTGCCTCCAAAATCTGGCTTTCTCCCTTGGGCAGGGAAACCTCCCCAACATTTCTCTATCATCCCTGAGATGTGGGGCCTGCACTCTGACTTCTGTCTGCCTTACTCTTTGTCTTACAGGGTGAAGTGATGAACCTCCTGATGTTCCTGTCGACGTGGGATGGGAAGGTCCCACAGCCGGCCATCCTAAAGCCCCGGCCCCTGTGGACAGGCAAGCAAATCTTCTCCCTCATCATACCTGGTCACATCAATTGTATCCGTACCCACAGCACCCATCCCGATGATGAAGACAGTGGCCCTTACAAGCACATCTCTCCTGGGGACACCAAGGTAGGGCTTGGCTTCTGGATATGTGAGGACAGAATTTGGACGTGGGAGCCAGGACCAGAGCAGGGGCCTTGAGTGGGTGCTTTGTCCTTAGGTGGTGGTGGAGAATGGGGAGCTGATCATGGGCATCCTGTGTAAGAAGTCTCTGGGCACGTCAGCTGGCTCCCTGGTCCACATCTCCTACCTAGAGATGGGTCATGACATCACTCGCCTCTTCTACTCCAACATTCAGACTGTCATTAACAACTGGCTCCTCATCGAGGGTGAGCATGGAGGCGTGGTACCAAGACGTCTCTGTGAATTCTCTAACTTCTTACTGTCCTTCCATCCCTTTCTTTCCTCCTTGGATTTGGTGCCCCCTGCTTCTACTCTCTTGGCTATAATTCCATTCCATGTTTCTTAGAGGTCCAAAGGGGTTTGCTGATGTTTTTCCCTGTCTCTAGGTCATACTATTGGCATTGGGGACTCCATTGCTGATTCTAAGACTTACCAGGACATTCAGAACACTATTAAGAAGGCCAAGCAGGACGTAATAGAGGTAAGAGGGGAGGCCACCAGAGACGGAATAAGGGGTTTCCAGGGACTTCGAAGTTAGCATCATCAAGAGCAAAGGGAGTGTAAGGTTAGAGGGAAGGGGCAGAGAGTAGGGATTGATGTCTCACCGAGAACTCTGCCTCCAGGTCATCGAGAAGGCACACAACAATGAGCTGGAGCCCACCCCAGGGAACACTCTGCGGCAGACGTTTGAGAATCAGGTGAACCGCATTCTTAACGATGCCCGAGACAAGACTGGCTCCTCTGCTCAGAAATCCCTGTCTGAATACAATAACTTCAAGTCTATGGTCGTGTCCGGAGCTAAAGGTTCCAAGATTAACATCTCCCAGGTGAGAAGCCTTGTTTTTCCATATACGGGGCCGCTGTGAAGTTTGGGAGGAGGAAGGAAGGTGTTTGTATGTATTAGGGTCAGGAGAATCACGGGAGTTGGGGGAAATTTTGGGAACTGTTATTCTTAAGGCAGAGGGAATTCAGTATACACCACCTTTCTGTTTCCCAGGTCATTGCTGTCGTTGGACAGCAGAACGTCGAGGGCAAGCGGATTCCATTTGGCTTCAAGCACCGGACTCTGCCTCACTTCATCAAGGATGACTACGGGCCTGAGAGCCGTGGCTTTGTGGAGAACTCCTACCTAGCCGGCCTCACACCCACTGAGTTCTTTTTCCACGCCATGGGGGGTCGTGAGGGGCTCATTGACACGGCTGTCAAGACTGCTGAGACTGGTGAGGCTTTCCTCAGGGGTCTTCCTTGGGCTGTTAGCAGGGACTGCTGCAGGCTGAGAAACCCCTAACAGGTGGGGAGCGGAAATGCTCAGGCTCCTATTCCCAGGGTATAATTCTGGCCCTTGTGGAAAGAATAGAGTCTCAAGAGTAGGCAAACACCCTTGTTTGGATTGCTGTGCAGCATTGCACAGTGCAGGGACAGAGCTTCCGGGGCTCTGCCGGCCTGTCCCATGGGAGTGGTTCCTGCTGGGCTTTTTGTCCGTCTAGTGGTAGACACTGAGTTTGCATTCAAAGGCCTCAGACACAGAGAGTACTAGCTGACTCTTCTGACAGTCAGGTAGGTTAAGGCCCCAGCCTGGGTCTTTGGGCTTTATCATCCCCTTACTTCCCTCCAGGATACATCCAGCGGCGGCTGATCAAGTCCATGGAGTCAGTGATGGTGAAGTACGACGCGACTGTGCGGAACTCCATCAACCAGGTGGTGCAGCTGCGCTACGGCGAAGACGGCCTGGCAGGCGAGAGCGTTGAGTTCCAGAACCTGGCTACGCTTAAGCCTTCCAACAAGGCTTTTGAGAAGAAGTGAGGAGGCGGGCAGGCGGGTGGTTCTCGCCCCTGGGGCTCAGGGCCTGAGTAGTAGGATTCCCATACCTATTCCAGAGAGATAGCCTGGTATGTGTCTTGCACTAGAGCTTACCTTTCAGCATCCTTCCCCACCTATCTGAAACAGCTGTGTGACATGGGGGAGGTGGTGGATGGAGGTGGATTTAAGATTGGTCCCCACATCGTCCCTGCTGATATTATAAAGCAGATGCAGAGGGGTGGGCCTGTACTCAGGTCCCAGTGGCAGTCCTTGGGCCTGAATTTTTCTCTGTCCAGGATTCTTGCCTCCAAACCACTGTACTTGGTCGGCTGTGCACCTTTGGGAACCTTACAGTGCGTTTTGTGGGGACCAAGGTCCCAGAGCCCACCTGTCCACTAGCTACCCCTTGCACTTCCAGGTTCCGCTTTGATTATACCAATGAGAGGGCCCTGCGGCGCACTCTGCAGGAGGACCTGGTGAAGGACGTGCTGAGCAACGCACACATCCAGAACGAGTTGGAGCGGGAATTTGAGCGGATGCGGGAGGATCGGGAGGTGCTCAGGGTCATCTTCCCAACTGGAGACAGCAAGGTGCGTGTGGGTCGAAGTGCTGATGCTAGAGATGTGCCTCCCTGGATGGCTGTCCCCAGACACAGCCCTCCCTCCATTTCCCCCTCTCTCAGGTCGTCCTCCCCTGTAACCTGCTGCGGATGATCTGGAATGCTCAGAAAATCTTCCACATCAACCCACGCCTTCCCTCCGACCTGCACCCCATCAAAGTGGTGGAGGGTAAGTACCTGCTTAGGGGTCTCCAAGCCAGGCTAGGGGATAGGAGACTGCTGGGCCCTGGTCTAATGATCTCCTCACCTTTAATTGGTCCCCAGGAGTCAAGGAATTGAGCAAGAAGCTGGTGATTGTGAATGGGGATGACCC
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GGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAAAGAAATTTATGCTTATTGTTAAGAACAAAAACAAAAATTTCAGTATTACAATGAATTTTTAATTAAAAGTTTTTGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCATCTCTACTGAAAAATACAAAAAATTAGCCGGGCGTAGTGGCATGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTTTTTGGGACTGGGCATGGTGACTCACACCTGTAATTCTAGCACTTTGGGAGGCCGAGGCAGGCACATCATTTGAGGCCAGGAGTTGGAGACAACTCTGGCCAACATAGAGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCGGACATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGAGAGGCTGTGGCAGGAGAATTGCTTGACCCCAGGAGGCGGAGGTTGCAGTGAGCCCTGATTGCACCATTGCACTCCAGCCTGGGTAAACAGCAAGACCCTGTCTCAAAAAATTAAAGGTTGGAAAAAACTTTTCCTGTCATCTTTGCCTCCAAAATCTGGCTTTCTCCCTTGGGCAGGGAAACCTCCCCAACATTTCTCTATCATCCCTGAGATGTGGGGCCTGCACTCTGACTTCTGTCTGCCTTACTCTTTGTCTTACAGGGTGAAGTGATGAACCTCCTGATGTTCCTGTCGACGTGGGATGGGAAGGTCCCACAGCCGGCCATCCTAAAGCCCCGGCCCCTGTGGACAGGCAAGCAAATCTTCTCCCTCATCATACCTGGTCACATCAATTGTATCCGTACCCACAGCACCCATCCCGATGATGAAGACAGTGGCCCTTACAAGCACATCTCTCCTGGGGACACCAAGGTAGGGCTTGGCTTCTGGATATGTGAGGACAGAATTTGGACGTGGGAGCCAGGACCAGAGCAGGGGCCTTGAGTGGGTGCTTTGTCCTTAGGTGGTGGTGGAGAATGGGGAGCTGATCATGGGCATCCTGTGTAAGAAGTCTCTGGGCACGTCAGCTGGCTCCCTGGTCCACATCTCCTACCTAGAGATGGGTCATGACATCACTCGCCTCTTCTACTCCAACATTCAGACTGTCATTAACAACTGGCTCCTCATCGAGGGTGAGCATGGAGGCGTGGTACCAAGACGTCTCTGTGAATTCTCTAACTTCTTACTGTCCTTCCATCCCTTTCTTTCCTCCTTGGATTTGGTGCCCCCTGCTTCTACTCTCTTGGCTATAATTCCATTCCATGTTTCTTAGAGGTCCAAAGGGGTTTGCTGATGTTTTTCCCTGTCTCTAGGTCATACTATTGGCATTGGGGACTCCATTGCTGATTCTAAGACTTACCAGGACATTCAGAACACTATTAAGAAGGCCAAGCAGGACGTAATAGAGGTAAGAGGGGAGGCCACCAGAGACGGAATAAGGGGTTTCCAGGGACTTCGAAGTTAGCATCATCAAGAGCAAAGGGAGTGTAAGGTTAGAGGGAAGGGGCAGAGAGTAGGGATTGATGTCTCACCGAGAACTCTGCCTCCAGGTCATCGAGAAGGCACACAACAATGAGCTGGAGCCCACCCCAGGGAACACTCTGCGGCAGATGTTTGAGAATCAGGTGAACCGCATTCTTAACGATGCCCGAGACAAGACTGGCTCCTCTGCTCAGAAATCCCTGTCTGAATACAATAACTTCAAGTCTATGGTCGTGTCCGGAGCTAAAGGTTCCAAGATTAACATCTCCCAGGTGAGAAGCCTTGTTTTTCCATATACGGGGCCGCTGTGAAGTTTGGGAGGAGGAAGGAAGGTGTTTGTATGTATTAGGGTCAGGAGAATCACGGGAGTTGGGGGAAATTTTGGGAACTGTTATTCTTAAGGCAGAGGGAATTCAGTATACACCACCTTTCTGTTTCCCAGGTCATTGCTGTCGTTGGACAGCAGAACGTCGAGGGCAAGCGGATTCCATTTGGCTTCAAGCACCGGACTCTGCCTCACTTCATCAAGGATGACTACGGGCCTGAGAGCCGTGGCTTTGTGGAGAACTCCTACCTAGCCGGCCTCACACCCACTGAGTTCTTTTTCCACGCCATGGGGGGTCGTGAGGGGCTCATTGACACGGCTGTCAAGACTGCTGAGACTGGTGAGGCTTTCCTCAGGGGTCTTCCTTGGGCTGTTAGCAGGGACTGCTGCAGGCTGAGAAACCCCTAACAGGTGGGGAGCGGAAATGCTCAGGCTCCTATTCCCAGGGTATAATTCTGGCCCTTGTGGAAAGAATAGAGTCTCAAGAGTAGGCAAACACCCTTGTTTGGATTGCTGTGCAGCATTGCACAGTGCAGGGACAGAGCTTCCGGGGCTCTGCCGGCCTGTCCCATGGGAGTGGTTCCTGCTGGGCTTTTTGTCCGTCTAGTGGTAGACACTGAGTTTGCATTCAAAGGCCTCAGACACAGAGAGTACTAGCTGACTCTTCTGACAGTCAGGTAGGTTAAGGCCCCAGCCTGGGTCTTTGGGCTTTATCATCCCCTTACTTCCCTCCAGGATACATCCAGCGGCGGCTGATCAAGTCCATGGAGTCAGTGATGGTGAAGTACGACGCGACTGTGCGGAACTCCATCAACCAGGTGGTGCAGCTGCGCTACGGCGAAGACGGCCTGGCAGGCGAGAGCGTTGAGTTCCAGAACCTGGCTACGCTTAAGCCTTCCAACAAGGCTTTTGAGAAGAAGTGAGGAGGCGGGCAGGCGGGTGGTTCTCGCCCCTGGGGCTCAGGGCCTGAGTAGTAGGATTCCCATACCTATTCCAGAGAGATAGCCTGGTATGTGTCTTGCACTAGAGCTTACCTTTCAGCATCCTTCCCCACCTATCTGAAACAGCTGTGTGACATGGGGGAGGTGGTGGATGGAGGTGGATTTAAGATTGGTCCCCACATCGTCCCTGCTGATATTATAAAGCAGATGCAGAGGGGTGGGCCTGTACTCAGGTCCCAGTGGCAGTCCTTGGGCCTGAATTTTTCTCTGTCCAGGATTCTTGCCTCCAAACCACTGTACTTGGTCGGCTGTGCACCTTTGGGAACCTTACAGTGCGTTTTGTGGGGACCAAGGTCCCAGAGCCCACCTGTCCACTAGCTACCCCTTGCACTTCCAGGTTCCGCTTTGATTATACCAATGAGAGGGCCCTGCGGCGCACTCTGCAGGAGGACCTGGTGAAGGACGTGCTGAGCAACGCACACATCCAGAACGAGTTGGAGCGGGAATTTGAGCGGATGCGGGAGGATCGGGAGGTGCTCAGGGTCATCTTCCCAACTGGAGACAGCAAGGTGCGTGTGGGTCGAAGTGCTGATGCTAGAGATGTGCCTCCCTGGATGGCTGTCCCCAGACACAGCCCTCCCTCCATTTCCCCCTCTCTCAGGTCGTCCTCCCCTGTAACCTGCTGCGGATGATCTGGAATGCTCAGAAAATCTTCCACATCAACCCACGCCTTCCCTCCGACCTGCACCCCATCAAAGTGGTGGAGGGTAAGTACCTGCTTAGGGGTCTCCAAGCCAGGCTAGGGGATAGGAGACTGCTGGGCCCTGGTCTAATGATCTCCTCACCTTTAATTGGTCCCCAGGAGTCAAGGAATTGAGCAAGAAGCTGGTGATTGTGAATGGGGATGACCC
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Task1_train_23358
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This alteration occurs within gene POLR2A (RNA polymerase II subunit A) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
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ATCAGTAAGTGCATGAAAAGATACTCAACATCATTAGCCATCAGGGAAATGCAAATGAAACCAGAGTGATGTGCCACTTCACATGCACTAGGATGACTGTAATCCAAAACACAGATAATAACAAGTGTTGACAAGGATGTGGAAAAATTAGAACCCTCATACATTGCTAGTAGAAAAGGTACAACTGCTTTAGGAAGTTAAAGCAGTTACCATATGGCCCAGCAGTTTCGTTCCTAGAGAGATTATACACACACACACGAGAGAACAGAAAACATATGGCCACACAAACATTTATACACAAATGTTCGTATCAGTGTTACAGTAGCTAAGCAGTGAAAACAAGTGTCCATCCACTGATGAATGGATAGGCAAAATGTGATATGTCCATATGAGGGAACATCATTCAGCAATAAAAAGTAATGAACAGGCTGGGCCTACGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATGACTTGAGTTCCAGACCAGCAGCCTGCCCAACATGGTGAAACCCCCAACTCTACCAAAAATAGAAAAATTAAGTGTGGTGCTACATGCTTGCTATCCCAGCTACTTCGGAGGGTAAGGCAGGAGGATCACTTGAACCCAGGCAGCAGAGGTTGCAGTGAGCTGAGACTGCACCACCGCACTCCAGCCTGGGCGACAGAGGGAGACCATCTCAAAAAAAAAAAAGTAACGGACAGCCAAGCACAGTGGCTGATGTCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGAAGATTGCTTGAGCCCAGAAGTTCAAGACCACCCTTGGGCAACATGACAAAACCCCATCTCTACAAAAAATTTAGCCAGGTGTGGTGGAGTGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATACCTGAGGCCAGGAGGTTGAAGCTGCAATAGTGAGCTGAGATCATGCTACTGTACTTCAGCCTGGGCAACAGAGTGAGACTCTATCTCAAAAAAAAAAAATCTGTCAAGCCACAAAAAGACAGTGATAAGCCAGATGCACTGGCTCATAACTCTAATCTCAACACTTTGGGAGGCCGAGGCAGGAGGCTCACGAGAGCCCAGGAGTTTGAGACCAGCCTGGGCAGCATAACGAAATTCTGTCTTTGCCAGTGATGAACCTTAAATGTATACTTGCTTAATGGAAGAAATTAGTCTGAAAAAGTTAGATACTGTGATTCCAGTTAAGTTTAATTTCGTATGTGACTATCTCATAACACATACGGGGAGCTTCCTATTTAGCTAACTGTTATAAAATGAATATTTACGGAGTAATTTTAACATAGGTTTAGAAATTTGGATCTTGGCCGGGCGAAGAGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGGTGAAACCCCGTCTCTACTAAAGATACAAAAAAATATTAGCTGGGTGTGGTGGCACGCGTCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTAGGCGACGGTGAGACTCCGTCTCGAAAAAATTTGGATCTCAGATGGTATAGTAGCTTTCTTTGGATGTGCTGCATACCAGGTGCCAAATGGCGTCCTATAAATGGAAGCTCTTGTGTGAGGAAGGGGATGATCAAATAAGAGTTTTGTTTTTGTTAAGAGTCTGTCTGCCTTTTCCGAACTCATCTACCCATGTCCTTTAAGATTACAGTCCTGGCCCTGTGATAAGCCAGATGCAGATCCACATCGTACTCATTCACTGAAAGAGAGGCGTTGGCTTTGTCTGATGCTAGCTTTTTCTTAGGCGCATCCCGGGGAAATGGTGGGGGCTCTGGCTGCGCAGTCCCTTGGAGAACCTGCCACCCAGATGACCTTGAATACCTTCCACTATGCTGGTGTGTCTGCCAAGAATGTGACGCTGGGTGTGCCCCGACTTAAGGAGCTCATCAACATTTCCAAGAAGCCAAAGACTCCTTCGCTTACTGTCTTCCTGTTGGGCCAGTCCGCTCGAGATGCTGAGAGAGCCAAGGTAGGGATCAGGACTGCTGGGCTTTTTGGCCGGAAGAAAAGAAGGAGAACTCAACTGGGTATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACTAACCTGGCCAAGGTGGTGAAACCCCATCTCTACTAAAAATAGAAAAATTAGCCGGGCATGGTCGTGTGTGCCTGTAATCCCAGCTGCTAGTTGGGGCTGAGACAGGAGAATCGCTTGAACCTGGGGGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAGATTCCATCTGAAAGAAAAAAAGAAAAAAAAGGAGAACTTTTCCCCTTGAATAAAGGGTTTTGGATTCCCTTGATAAGGAGGGTTAGAAGAGACGTTTAGAGCTACTCAGTTCCCTGTGTCATGGACTTCTGTCTCTTCCCAGGATATTCTGTGCCGTCTGGAGCATACAACGTTGAGGAAGGTGACTGCCAACACAGCCATCTACTATGACCCCAACCCCCAGAGCACGGTGGTGGCAGAGGATCAGGAATGGGTGAATGTCTACTATGAAATGCCTGACTTTGATGTGGCCCGAATCTCCCCCTGGCTGTTGCGGGTGGAGCTGGATCGGAAGCACATGACTGACCGGAAGCTCACCATGGAGCAGATTGCTGAAAAGATCAATGCTGGTAAGCCTAGGAGGGCTGGCCTGGCTCAGGAGCCCCGCTCTCTGGGCTACCACCTATCGTGTTCACCGCACTTGAGCCCCCAAAGAGCTACCCACCCTCACCCCCATGCATGTACCAGTTCCGCCCCTCCGAGGCATCCTCCAACTCTCCAGGTCCCCTCTGCACTCCCTTTCTCTTCTGAATGTTCTCCCTTCCCCTTTCCAGGGGGTTCTATGAAAAGAAAGTTTCTGTGAGGAGCGGGGAGCCAAAAGAGAGCCTTGCTCAGAGAGAGCTGCGAGTGGACAGTGGCTGGGGCCAGTCCCCTTAGCTGCAGCCTTTCTCATGGCTCCTCACCCCACCAGGTTTTGGTGACGACTTGAACTGCATCTTTAATGATGACAATGCAGAGAAGCTGGTGCTCCGTATTCGCATCATGAACAGCGATGAGAACAAGATGCAAGAGGTAATGGGGGTCCTAGAAGTCAGCGTGTCACATGTATAAAACGCATGAATCACGTTAGAGACCAAAGAAAAGAAGATGCAATCAACATTGAGGGGCGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGCTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGTAACCCCGTCTCTACTAAAAATAAAAATTAGCCGGGCATGGTGGTATGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAACAAGAGTGAAACTATCTCAAAAAATAAAAAAAACATTGAGGGGCCAGTCATACCCACCTAATTTAGGGATAGGGAATGGTGATTAGCAACGATTTTCAAAATCCACAGCACCGGCCGAGTAGATAAAACAGGTGGTGTTGAAATAGGAGATAGGAGTGCCTCCCTGTCACGCTGTCACTTGGCTCTCCTCCCCCAAGGCTCCTGCAGCTTGCTTTGCTTAGGGAATACAAGCCCCACCCCTGAGGCAGGGGCCAGACTTGGGGGCAGGTTGGGCAGTAGGCATTGCTATGTCCTAGGGGAAGTCGTGTGACAGCCATAACAAGACCCATGAAAAGGCTGGATCAGTGACTTCACTCCTGGGCATGGCTCCTGAGATACTTGTTTGGCACATGTTGGTACCTGGTGCTTTAGTAATAAAAACTGAAGAACTCAGGCTGGGCATGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATTACCTGAGGTCGGGAGTTC
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ATCAGTAAGTGCATGAAAAGATACTCAACATCATTAGCCATCAGGGAAATGCAAATGAAACCAGAGTGATGTGCCACTTCACATGCACTAGGATGACTGTAATCCAAAACACAGATAATAACAAGTGTTGACAAGGATGTGGAAAAATTAGAACCCTCATACATTGCTAGTAGAAAAGGTACAACTGCTTTAGGAAGTTAAAGCAGTTACCATATGGCCCAGCAGTTTCGTTCCTAGAGAGATTATACACACACACACGAGAGAACAGAAAACATATGGCCACACAAACATTTATACACAAATGTTCGTATCAGTGTTACAGTAGCTAAGCAGTGAAAACAAGTGTCCATCCACTGATGAATGGATAGGCAAAATGTGATATGTCCATATGAGGGAACATCATTCAGCAATAAAAAGTAATGAACAGGCTGGGCCTACGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATGACTTGAGTTCCAGACCAGCAGCCTGCCCAACATGGTGAAACCCCCAACTCTACCAAAAATAGAAAAATTAAGTGTGGTGCTACATGCTTGCTATCCCAGCTACTTCGGAGGGTAAGGCAGGAGGATCACTTGAACCCAGGCAGCAGAGGTTGCAGTGAGCTGAGACTGCACCACCGCACTCCAGCCTGGGCGACAGAGGGAGACCATCTCAAAAAAAAAAAAGTAACGGACAGCCAAGCACAGTGGCTGATGTCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGAAGATTGCTTGAGCCCAGAAGTTCAAGACCACCCTTGGGCAACATGACAAAACCCCATCTCTACAAAAAATTTAGCCAGGTGTGGTGGAGTGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATACCTGAGGCCAGGAGGTTGAAGCTGCAATAGTGAGCTGAGATCATGCTACTGTACTTCAGCCTGGGCAACAGAGTGAGACTCTATCTCAAAAAAAAAAAATCTGTCAAGCCACAAAAAGACAGTGATAAGCCAGATGCACTGGCTCATAACTCTAATCTCAACACTTTGGGAGGCCGAGGCAGGAGGCTCACGAGAGCCCAGGAGTTTGAGACCAGCCTGGGCAGCATAACGAAATTCTGTCTTTGCCAGTGATGAACCTTAAATGTATACTTGCTTAATGGAAGAAATTAGTCTGAAAAAGTTAGATACTGTGATTCCAGTTAAGTTTAATTTCGTATGTGACTATCTCATAACACATACGGGGAGCTTCCTATTTAGCTAACTGTTATAAAATGAATATTTACGGAGTAATTTTAACATAGGTTTAGAAATTTGGATCTTGGCCGGGCGAAGAGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGGTGAAACCCCGTCTCTACTAAAGATACAAAAAAATATTAGCTGGGTGTGGTGGCACGCGTCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTAGGCGACGGTGAGACTCCGTCTCGAAAAAATTTGGATCTCAGATGGTATAGTAGCTTTCTTTGGATGTGCTGCATACCAGGTGCCAAATGGCGTCCTATAAATGGAAGCTCTTGTGTGAGGAAGGGGATGATCAAATAAGAGTTTTGTTTTTGTTAAGAGTCTGTCTGCCTTTTCCGAACTCATCTACCCATGTCCTTTAAGATTACAGTCCTGGCCCTGTGATAAGCCAGATGCAGATCCACATCGTACTCATTCACTGAAAGAGAGGCGTTGGCTTTGTCTGATGCTAGCTTTTTCTTAGGCGCATCCCGGGGAAATGGTGGGGGCTCTGGCTGCGCAGTCCCTTGGAGAACCTGCCACCCAGATGACCTTGAATACCTTCCACTATGCTGGTGTGTCTGCCAAGAATGTGACGCTGGGTGTGCCCCGACCTAAGGAGCTCATCAACATTTCCAAGAAGCCAAAGACTCCTTCGCTTACTGTCTTCCTGTTGGGCCAGTCCGCTCGAGATGCTGAGAGAGCCAAGGTAGGGATCAGGACTGCTGGGCTTTTTGGCCGGAAGAAAAGAAGGAGAACTCAACTGGGTATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACTAACCTGGCCAAGGTGGTGAAACCCCATCTCTACTAAAAATAGAAAAATTAGCCGGGCATGGTCGTGTGTGCCTGTAATCCCAGCTGCTAGTTGGGGCTGAGACAGGAGAATCGCTTGAACCTGGGGGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAGATTCCATCTGAAAGAAAAAAAGAAAAAAAAGGAGAACTTTTCCCCTTGAATAAAGGGTTTTGGATTCCCTTGATAAGGAGGGTTAGAAGAGACGTTTAGAGCTACTCAGTTCCCTGTGTCATGGACTTCTGTCTCTTCCCAGGATATTCTGTGCCGTCTGGAGCATACAACGTTGAGGAAGGTGACTGCCAACACAGCCATCTACTATGACCCCAACCCCCAGAGCACGGTGGTGGCAGAGGATCAGGAATGGGTGAATGTCTACTATGAAATGCCTGACTTTGATGTGGCCCGAATCTCCCCCTGGCTGTTGCGGGTGGAGCTGGATCGGAAGCACATGACTGACCGGAAGCTCACCATGGAGCAGATTGCTGAAAAGATCAATGCTGGTAAGCCTAGGAGGGCTGGCCTGGCTCAGGAGCCCCGCTCTCTGGGCTACCACCTATCGTGTTCACCGCACTTGAGCCCCCAAAGAGCTACCCACCCTCACCCCCATGCATGTACCAGTTCCGCCCCTCCGAGGCATCCTCCAACTCTCCAGGTCCCCTCTGCACTCCCTTTCTCTTCTGAATGTTCTCCCTTCCCCTTTCCAGGGGGTTCTATGAAAAGAAAGTTTCTGTGAGGAGCGGGGAGCCAAAAGAGAGCCTTGCTCAGAGAGAGCTGCGAGTGGACAGTGGCTGGGGCCAGTCCCCTTAGCTGCAGCCTTTCTCATGGCTCCTCACCCCACCAGGTTTTGGTGACGACTTGAACTGCATCTTTAATGATGACAATGCAGAGAAGCTGGTGCTCCGTATTCGCATCATGAACAGCGATGAGAACAAGATGCAAGAGGTAATGGGGGTCCTAGAAGTCAGCGTGTCACATGTATAAAACGCATGAATCACGTTAGAGACCAAAGAAAAGAAGATGCAATCAACATTGAGGGGCGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGCTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGTAACCCCGTCTCTACTAAAAATAAAAATTAGCCGGGCATGGTGGTATGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAACAAGAGTGAAACTATCTCAAAAAATAAAAAAAACATTGAGGGGCCAGTCATACCCACCTAATTTAGGGATAGGGAATGGTGATTAGCAACGATTTTCAAAATCCACAGCACCGGCCGAGTAGATAAAACAGGTGGTGTTGAAATAGGAGATAGGAGTGCCTCCCTGTCACGCTGTCACTTGGCTCTCCTCCCCCAAGGCTCCTGCAGCTTGCTTTGCTTAGGGAATACAAGCCCCACCCCTGAGGCAGGGGCCAGACTTGGGGGCAGGTTGGGCAGTAGGCATTGCTATGTCCTAGGGGAAGTCGTGTGACAGCCATAACAAGACCCATGAAAAGGCTGGATCAGTGACTTCACTCCTGGGCATGGCTCCTGAGATACTTGTTTGGCACATGTTGGTACCTGGTGCTTTAGTAATAAAAACTGAAGAACTCAGGCTGGGCATGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATTACCTGAGGTCGGGAGTTC
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Task1_train_23359
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Gene LOC126862482, POLR2A (CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7414586-7415785| RNA polymerase II subunit A), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
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GCAACAAGAGTGAAACTATCTCAAAAAATAAAAAAAACATTGAGGGGCCAGTCATACCCACCTAATTTAGGGATAGGGAATGGTGATTAGCAACGATTTTCAAAATCCACAGCACCGGCCGAGTAGATAAAACAGGTGGTGTTGAAATAGGAGATAGGAGTGCCTCCCTGTCACGCTGTCACTTGGCTCTCCTCCCCCAAGGCTCCTGCAGCTTGCTTTGCTTAGGGAATACAAGCCCCACCCCTGAGGCAGGGGCCAGACTTGGGGGCAGGTTGGGCAGTAGGCATTGCTATGTCCTAGGGGAAGTCGTGTGACAGCCATAACAAGACCCATGAAAAGGCTGGATCAGTGACTTCACTCCTGGGCATGGCTCCTGAGATACTTGTTTGGCACATGTTGGTACCTGGTGCTTTAGTAATAAAAACTGAAGAACTCAGGCTGGGCATGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATTACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCGACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGCATGCCTGTAATCTCAGTTACTCAGGAGGCTGAGGCAGGAGAAATGCTTGAACATGGGAGGCAGAGGTTGTGGTGAGGCAAGATCACACCATTGCACTCCAGCCTGGGCAATAAGCGAAACTCCATCTCTAAAAAAACAAAAACAAAAAACTGAAGAACTCACTAACTGCTGAACTGCTGTCAGAGAACAGTTATAAAAGCATTGATAGGTCTTGATGGAATACAGTATATGGCCATTAGAAGTGATCACTGTCATGCCAGCAGCAGCCTAGATGAACACACAGTGAAGTGCCAGAGCAGGGAATGGTGTGTGCTCGGGTACAGCAGTTGGGAGGATATGACATGTACGTGGAGCCCGCCTCTCGCTAGGCGCAGGACTGCACAAGAGTGGAAGTTGTGACGGGGTGGTGGGATTTGGGTGCCTTTCCTTAGGCTTCTTTTAATATTGTAAAATCAGGATTAAAAGTCTCACTGGAGAATTGCAGGAACATGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTGGCATTGCACTCCAGCCCAGGCTGATAACAGCGAGACTCCACCTCAAAAAAAAAAAAAAAAAAGTCTCACTGGAACTGTGAGGGGCAGAGCCTGGTGACTGACTCGTTTGGCCCTCAAAGAGGCTGTAGTTGGAGGCGAGAGCTGGGGAAGAGACCAGAGGATGCCAAGTGCTGACCTCACTCTCACTGCAGGAGGAAGAGGTGGTGGACAAGATGGATGATGATGTCTTCCTGCGCTGCATCGAGTCCAACATGCTGACAGATATGACCCTGCAGGGCATCGAGCAGATCAGCAAGGTCAGCCATCCCCTCTGCCACCGCCTTCCTCCTCCCACTCCCACACTCCCCTCCCTGCCTACTCTGAGCACGCTGTCTTCCCACAGGTGTACATGCACTTGCCACAGACAGACAACAAGAAGAAGATCATCATCACGGAGGATGGGGAATTCAAGGCCCTGCAGGAGTGGATCCTGGAGACGGACGGCGTGAGCTTGATGCGGGTGCTGAGTGAGAAGGACGTGGACCCCGTACGCACCACGTCCAATGACATTGTGGAGATCTTCACGGTGAGCCCGTGTGTGCTGCCTAGCTGCCTTTCGTGGATCTCTGGCTCTCAGGCCCCTCATTCTGTGCTGTCCACTCAGGACTTTTTCTGCCTGATTCCATTTCTGAGTGTGGGATATCCTGGCTCCTGACACCCTCCCTGGATCTGGGTGGCGACAGAAGCAGGGAAGAGAGCAGAGTTGCTCAGTCCTGGCCCTCCCCTCCACTTCCCTCCCCTGTGCCAGGTGCTGGGCATTGAAGCCGTGCGGAAGGCCCTGGAGCGGGAGCTGTACCACGTCATCTCCTTTGATGGCTCCTATGTCAATTACCGACACTTGGCTCTCTTGTGTGATACCATGACCTGTCGTGGCCACTTGATGGCCATCACCCGACACGGAGTCAACCGCCAGGACACAGGACCACTCATGAAGTGTTCCTTTGAGGAAACGGTAACAGTGGAATTTCTGAATAGGGCAGAAGGAGGGAGTAGTGTGAGAAGAAGGGCACACACTTTGGGCAGCTGGGCTGTGGTGATGGGACAGTCAGGTGCTGTGTGTGGAGGGGTCTCATGGGGCCGGTCTGCTCTGTTCAGGTGGACGTGCTTATGGAAGCAGCCGCACACGGTGAGAGTGACCCCATGAAGGGGGTCTCTGAGAATATCATGCTGGGCCAGCTGGCTCCGGCCGGCACTGGCTGCTTTGACCTCCTGCTTGATGCAGAGAAGTGCAAGTATGGCATGGAGATCCCCACCAATATCCCCGGCCTGGGGGCTGCTGGACGTGAGTATGAGGCCCCAGCTGCGGTACCTGCTTGCGTCGGCGAGGCGGGGGGGCAGGCCATGGGTGCAAGGGTGTCACCAGTCCATGATTGCTGTTCTTGCTCCTCACGATTTCCTGTGTTCCTCTTTGCAGCCACCGGCATGTTCTTTGGTTCAGCACCCAGTCCCATGGGTGGAATCTCTCCTGCCATGACACCTTGGAACCAGGGTGCAACCCCTGCCTATGGCGCCTGGTCCCCCAGTGTTGGTGAGTAACCTGATCCAGGAAGAGGGCCCTCCAGGTGGTTCAGAGGTGGATAAGCTGGGATCGTGAACGGTAGCCATTGTTGGAACTCTGAAGGCCGCAGAGGGCTAGTGAAAGGTGGGGCAGGGAGAATTGGGGGCCTTTGGTCTCCCGCTCTGGCCTTAACTTGCTTCTCTCACTCTATAGGGAGTGGAATGACCCCAGGGGCAGCCGGCTTCTCTCCCAGTGCTGCGTCAGATGCCAGCGGCTTCAGCCCAGGTTACTCCCCTGCCTGGTCTCCCACACCGGGCTCCCCGGGGTCCCCAGGTCCCTCAAGCCCCTACATCCCTTCACCAGGTGAGTTGTCGCCATCTGTCAGGCCAGGTTTGTTTCCTCCACAGTTCTGGGTGAGTCTGTCCATTGCTCATCTCCTTTGTTGGCTGCTTCCCCACAGGTGGTGCCATGTCTCCCAGCTACTCGCCAACGTCACCTGCCTACGAGCCCCGCTCTCCTGGGGGCTACACACCCCAGAGTCCCTCTTATTCCCCCACTTCACCCTCCTACTCCCCTACCTCTCCATCCTATTCTCCAACCAGTCCCAACTATAGTCCCACATCACCCAGCTATTCGCCAACGTCACCCAGCTACTCACCGACCTCTCCCAGCTACTCACCCACCTCTCCCAGCTACTCGCCCACCTCTCCCAGCTACTCGCCCACCTCTCCCAGCTACTCACCCACTTCCCCTAGCTACTCGCCCACTTCCCCTAGCTACTCGCCAACGTCTCCCAGCTACTCGCCGACATCTCCCAGCTACTCGCCAACTTCACCCAGCTATTCTCCCACTTCTCCCAGCTACTCACCTACCTCTCCAAGCTATTCACCCACCTCCCCCAGCTACTCACCCACTTCCCCAAGTTACTCACCCACCAGCCCGAACTATTCTCCAACCAGTCCCAATTACACCCCAACATCACCCAGCTACAGCCCGACATCACCCAGCTATTCACCTACTAGTCCCAACTACACACCTACCAGCCCTAACTACAGCCCAACCTCTCCAAGCTACTCTCCAACATCACCCAGCTATTCCCCGACCTCACCAAGTTACTCCCCTTCCAGCCCACGATACACACCACAGTCTCCAACCTATACCCCAAGCTCACCCAGCTACAGCCCCAGCTCGCCCAGCTACAGCCCAACCTCACCCACAAGTACACCCCAACCAGTCCTTCTTACAGTCCCAGCTCCCCAGAGTATACCCCAACCTCTCCCAAGTACTCACCTACCAGTCCCAAATATTCACCCACCTCTCCCAAGTACTCGCCTACCAGTCCCACCTATTCACCCACCACCCCAAAATACTCCCCAACATCTCCTACTTATTCCCCAACCTCTCCAGTCTACACCCCAACCTCTCCCAAGTACTCACCTACTAGCCCC
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GCAACAAGAGTGAAACTATCTCAAAAAATAAAAAAAACATTGAGGGGCCAGTCATACCCACCTAATTTAGGGATAGGGAATGGTGATTAGCAACGATTTTCAAAATCCACAGCACCGGCCGAGTAGATAAAACAGGTGGTGTTGAAATAGGAGATAGGAGTGCCTCCCTGTCACGCTGTCACTTGGCTCTCCTCCCCCAAGGCTCCTGCAGCTTGCTTTGCTTAGGGAATACAAGCCCCACCCCTGAGGCAGGGGCCAGACTTGGGGGCAGGTTGGGCAGTAGGCATTGCTATGTCCTAGGGGAAGTCGTGTGACAGCCATAACAAGACCCATGAAAAGGCTGGATCAGTGACTTCACTCCTGGGCATGGCTCCTGAGATACTTGTTTGGCACATGTTGGTACCTGGTGCTTTAGTAATAAAAACTGAAGAACTCAGGCTGGGCATGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATTACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCGACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGCATGCCTGTAATCTCAGTTACTCAGGAGGCTGAGGCAGGAGAAATGCTTGAACATGGGAGGCAGAGGTTGTGGTGAGGCAAGATCACACCATTGCACTCCAGCCTGGGCAATAAGCGAAACTCCATCTCTAAAAAAACAAAAACAAAAAACTGAAGAACTCACTAACTGCTGAACTGCTGTCAGAGAACAGTTATAAAAGCATTGATAGGTCTTGATGGAATACAGTATATGGCCATTAGAAGTGATCACTGTCATGCCAGCAGCAGCCTAGATGAACACACAGTGAAGTGCCAGAGCAGGGAATGGTGTGTGCTCGGGTACAGCAGTTGGGAGGATATGACATGTACGTGGAGCCCGCCTCTCGCTAGGCGCAGGACTGCACAAGAGTGGAAGTTGTGACGGGGTGGTGGGATTTGGGTGCCTTTCCTTAGGCTTCTTTTAATATTGTAAAATCAGGATTAAAAGTCTCACTGGAGAATTGCAGGAACATGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTGGCATTGCACTCCAGCCCAGGCTGATAACAGCGAGACTCCACCTCAAAAAAAAAAAAAAAAAAGTCTCACTGGAACTGTGAGGGGCAGAGCCTGGTGACTGACTCGTTTGGCCCTCAAAGAGGCTGTAGTTGGAGGCGAGAGCTGGGGAAGAGACCAGAGGATGCCAAGTGCTGACCTCACTCTCACTGCAGGAGGAAGAGGTGGTGGACAAGATGGATGATGATGTCTTCCTGCGCTGCATCGAGTCCAACATGCTGACAGATATGACCCTGCAGGGCATCGAGCAGATCAGCAAGGTCAGCCATCCCCTCTGCCACCGCCTTCCTCCTCCCACTCCCACACTCCCCTCCCTGCCTACTCTGAGCACGCTGTCTTCCCACAGGTGTACATGCACTTGCCACAGACAGACAACAAGAAGAAGATCATCATCACGGAGGATGGGGAATTCAAGGCCCTGCAGGAGTGGATCCTGGAGACGGACGGCGTGAGCTTGATGCGGGTGCTGAGTGAGAAGGACGTGGACCCCGTACGCACCACGTCCAATGACATTGTGGAGATCTTCACGGTGAGCCCGTGTGTGCTGCCTAGCTGCCTTTCGTGGATCTCTGGCTCTCAGGCCCCTCATTCTGTGCTGTCCACTCAGGACTTTTTCTGCCTGATTCCATTTCTGAGTGTGGGATATCCTGGCTCCTGACACCCTCCCTGGATCTGGGTGGCGACAGAAGCAGGGAAGAGAGCAGAGTTGCTCAGTCCTGGCCCTCCCCTCCACTTCCCTCCCCTGTGCCAGGTGCTGGGCATTGAAGCCGTGCGGAAGGCCCTGGAGCGGGAGCTGTACCACGTCATCTCCTTTGATGGCTCCTATGTCAATTACCGACACTTGGCTCTCTTGTGTGATACCATGACCTGTCGTGGCCACTTGATGGCCATCACCCGACACAGAGTCAACCGCCAGGACACAGGACCACTCATGAAGTGTTCCTTTGAGGAAACGGTAACAGTGGAATTTCTGAATAGGGCAGAAGGAGGGAGTAGTGTGAGAAGAAGGGCACACACTTTGGGCAGCTGGGCTGTGGTGATGGGACAGTCAGGTGCTGTGTGTGGAGGGGTCTCATGGGGCCGGTCTGCTCTGTTCAGGTGGACGTGCTTATGGAAGCAGCCGCACACGGTGAGAGTGACCCCATGAAGGGGGTCTCTGAGAATATCATGCTGGGCCAGCTGGCTCCGGCCGGCACTGGCTGCTTTGACCTCCTGCTTGATGCAGAGAAGTGCAAGTATGGCATGGAGATCCCCACCAATATCCCCGGCCTGGGGGCTGCTGGACGTGAGTATGAGGCCCCAGCTGCGGTACCTGCTTGCGTCGGCGAGGCGGGGGGGCAGGCCATGGGTGCAAGGGTGTCACCAGTCCATGATTGCTGTTCTTGCTCCTCACGATTTCCTGTGTTCCTCTTTGCAGCCACCGGCATGTTCTTTGGTTCAGCACCCAGTCCCATGGGTGGAATCTCTCCTGCCATGACACCTTGGAACCAGGGTGCAACCCCTGCCTATGGCGCCTGGTCCCCCAGTGTTGGTGAGTAACCTGATCCAGGAAGAGGGCCCTCCAGGTGGTTCAGAGGTGGATAAGCTGGGATCGTGAACGGTAGCCATTGTTGGAACTCTGAAGGCCGCAGAGGGCTAGTGAAAGGTGGGGCAGGGAGAATTGGGGGCCTTTGGTCTCCCGCTCTGGCCTTAACTTGCTTCTCTCACTCTATAGGGAGTGGAATGACCCCAGGGGCAGCCGGCTTCTCTCCCAGTGCTGCGTCAGATGCCAGCGGCTTCAGCCCAGGTTACTCCCCTGCCTGGTCTCCCACACCGGGCTCCCCGGGGTCCCCAGGTCCCTCAAGCCCCTACATCCCTTCACCAGGTGAGTTGTCGCCATCTGTCAGGCCAGGTTTGTTTCCTCCACAGTTCTGGGTGAGTCTGTCCATTGCTCATCTCCTTTGTTGGCTGCTTCCCCACAGGTGGTGCCATGTCTCCCAGCTACTCGCCAACGTCACCTGCCTACGAGCCCCGCTCTCCTGGGGGCTACACACCCCAGAGTCCCTCTTATTCCCCCACTTCACCCTCCTACTCCCCTACCTCTCCATCCTATTCTCCAACCAGTCCCAACTATAGTCCCACATCACCCAGCTATTCGCCAACGTCACCCAGCTACTCACCGACCTCTCCCAGCTACTCACCCACCTCTCCCAGCTACTCGCCCACCTCTCCCAGCTACTCGCCCACCTCTCCCAGCTACTCACCCACTTCCCCTAGCTACTCGCCCACTTCCCCTAGCTACTCGCCAACGTCTCCCAGCTACTCGCCGACATCTCCCAGCTACTCGCCAACTTCACCCAGCTATTCTCCCACTTCTCCCAGCTACTCACCTACCTCTCCAAGCTATTCACCCACCTCCCCCAGCTACTCACCCACTTCCCCAAGTTACTCACCCACCAGCCCGAACTATTCTCCAACCAGTCCCAATTACACCCCAACATCACCCAGCTACAGCCCGACATCACCCAGCTATTCACCTACTAGTCCCAACTACACACCTACCAGCCCTAACTACAGCCCAACCTCTCCAAGCTACTCTCCAACATCACCCAGCTATTCCCCGACCTCACCAAGTTACTCCCCTTCCAGCCCACGATACACACCACAGTCTCCAACCTATACCCCAAGCTCACCCAGCTACAGCCCCAGCTCGCCCAGCTACAGCCCAACCTCACCCACAAGTACACCCCAACCAGTCCTTCTTACAGTCCCAGCTCCCCAGAGTATACCCCAACCTCTCCCAAGTACTCACCTACCAGTCCCAAATATTCACCCACCTCTCCCAAGTACTCGCCTACCAGTCCCACCTATTCACCCACCACCCCAAAATACTCCCCAACATCTCCTACTTATTCCCCAACCTCTCCAGTCTACACCCCAACCTCTCCCAAGTACTCACCTACTAGCCCC
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Task1_train_23360
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A sequence alteration has been identified in MPDU1, MPDU1-AS1 (mannose-P-dolichol utilization defect 1| MPDU1 antisense RNA 1) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; MPDU1-congenital disorder of glycosylation
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TACTTGGGAGGCTGAGGCAGAACTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGTCATCGCGCCACTAAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTCTCAAATAAATAAATATGAGATAATGCAGTCGGGAGAAGGGAGGGAGAGAATTTTATTAAATGTGACGAACTGCCCCCCCCCCCCCCCCAGCAGGAGAGCAGCAAAATTTATGCAAATCTTTGACGGGGTTTTCCTTGTCCTGCCAGGATTAAAAGCCATGAGTTTCTTGTCACATGCCTTTCTATGCCTTCCATGGCTGGGTCTCAGGGAGCCGGAAGCAGCTGCTGAGGAGGGATGAAAATGTCAGTGTGTGACGATGCCTCATGGGTTCACCCCCCAAAGCCTGGCACAGCTGGTGTTGGGTCTGCCGTGCCTCCCTTCCTTCCTCCTCTTGGGGCCACTGGCTGCTCCAGTTCCCCATCCGTGGCAAGCCGGTAGAGCCATTCATCCCCGCAGCCTTCTTCCTGACCCTCGTACAGTTTCAAATGCAGCAGACAGCCAAAGCAATGAGTGGGGGGCTGTGGAACTTCATTCCCAAAGGCAGCGCCAGTGGCTCCTGAGCAATGAGAATGTCCTGTCCTGTCCACCATATTCAAGGCCAGCAGAAGAGCCCGATTAAACCCTCGCAGCACCTGGCATGCTCCTATCCCACCTACAAGGGGTTGAATCAAGAAGGAGCAGTGGGTACTCTGACCTCCACTGGGGGCTCCTGGGAACAGCATGCCCCCCACACGGGGCCACCTGCCAAGCCTAACTTCATGCCCCCAGTACTTGAGATGAGGAGTGTCACTCTCAGGACAGCCAAGGTCCAGATTCCAGAAAGGACCTCCCAGATGGCCACAGCCTGCACCAGCAGTGAGCGCCAGTCCCACCCATTACAGCTGGCTACGGCGCAATCCCTGGGAGCCAGGATGAGCAGCACCCCCCAGCCGTAGGAGCCCCAGGAGGCTTCCGGCCTCCAAGGCCCAGAGACTGCCCCACAAGGGCAGCCCTCACCTGGCAGGGCCCCAGCAGCCCCACCTCTGCCTGCAGACATCCGTGTGACCTTGTAGACTTTGGAGGGGGGCCGCCAAAGGGCTGATCCACAGCGGAATGACGCACGGGTGGGCACCGTGGGTTGGCGTCCCGGCGGTCGGTAACGAAGCACAACGCCCCCACCAGGTAGTCCAAGGTGCCCTTTCCCAAGCAGCGCTGCAGGGTCCACTCGGCCTCGCCGAAGTCTCTGCCCAGCACGTGGTGCGCCCTCGGGCCAGCGGGGAGGGGGCGAATCCCGGGACTGCCTCGCCAGGCCTCGGCTCCCCGGAGACTCTTGGGGGTCTGGGCCCCAAGGGTGATTCAGGTGCTGCCCTTCCCCGACCTGGGCTCGCCTCCCCCACCTCCTCCTCTGCTTCACTGTCCCGGGCCCAGCAGTTGCCGGCGCACTCATGCTCCGAGGCCTGAGCCAACCGGAGGCGAGACAAGCACAGGGCCCTGCGCGCAACCCGGCACCTAAGGAGGCCTGCCCGGTGCAGACTCTCCTGCTCCCACCGGCGCCCTTCCCTCTAGAGACGCTGAGAGAACGGGAGCTAGTAGCGCCCCCACCCAACGCCACCTCGGAGACTCCGGCTCCTTCTCTCTCAACTTCGAACAATACAAAGTGTGCTAGGAGAAGACAAGATGGCGCCCAGCAGGAGGAGCGGAGAAAGGCAGGGGTGTAAATCTGGCTTCCAAACTGGAAGCGTCAACAAAGGCGTGGGAGGTCTAACCGCGCAGGCGTGCAGCTTCGGCAAGCTTTACAATTCCAACAGCGCGTCCAAAACGTGGTCCCTGACTGAGACTTATTTTACGCCACTAGAGTGAGGGTGGGTAGCGTCAGAAAGAGCGGGGCACGGGGCGGGCCAGCTTCGCCGCGGGAAAAGAACGGGAGGCGGAGTGTCCGCAGCGCGCACGCGCAACGAAAGTCAATGGCGGTCTGGAGAGACTGGCGGAAGCTAGCTTTGCAATATGGCGGCCGAGGCGGACGGACCGCTTAAACGGCTGCTCGTGCCGATTCTTTTACCTGAGAAATGCTACGACCAACTTTTCGTTCAGTGGGACTTGCTTCACGGTGAGTTTTATTCAGCATCCGATCCAAGTCCTACTCGAGTGACCGTGGGCCCTTAGTCCAAGCCTTGATCGGCGACTAAGTGACGGCAGTGACTGCCGCCATGCCGAGCTGGACGGAAGTCACTTCTGAGAAGGGCGGAAGTGTCTCGGGCTCCTTAGAGGGAGGACACCATATTAGTGCCAGTGGGGAAGTCACCGGGTGGAATTACTTCTTTGTGGAGTTTGTGCTGTAGCGACAATGAAAAACGAAGAGTCAACTTTTATAAAACAAAATAAAAATTAAGTCAAATCATGCCAACCTTTATTAGATCGCTAGCAGGGTTAAACTTAATTCAAAGCCCCTGATGAATCGGGCCTTCATTGCACCCCCAAAGGCTCCGCCACCCTGATTGCTTTCTTTCCAGCCTCCAGGTTTGCTCATAGTCTGATTTCGGAATAATTTGCCTCCCTTCCTTTTTCTGATTGCGAGACAGCTCCACAAGGGTCACCGTCAGACCGTTTGGGGAGCGTCAGTCTGCCCCTGTCAGTTCATGGTACCTCTCTTGAGCTCGTGGGGCACTTTGTTTTAGCCGCATTCATGACCCGTGAGAGTCAGACTCCCACTAGACCAAGTTCCTTGAGGGGAAGGCTTCAAGGCTAGAGAAGTTGTGGATGGCCAGGGCATAAAAGCAAGCCTTGAAAGGGTAAGGTTTAGTCCCTGAGTAGGGGCCAGGGACAGTCAGAGTGTTCAAGAAAGAGTGGTATGGGGCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAATAGGGCGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTTGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGACAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAATTAAAATAAGAAAAAAAAAATGGTATGAAGACTTGTCTTTGGAGAGAGAAGACATGTGAAATGGGGCACCCATTGGCCCAGAGAAGGGAAATAAAGGATCAGAGAGCTCTTGGGCATTTCTCAGCTTTATATGGGGAAGCAATGGAGAGCCGTGGAGGTCAAGCCAAGTTTGGGTGTTAATTTATAGGGAATGGAAGATTGGATGTGGGGGGTGGTAGGCATCGGAGAAAAGCTGTTTTGGAAAGTAACAGTCTGGGGCCCGGTGCGGTAGCTCGAGCTTATAATCCCAGCACTTTAAGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATTAACCGGGCATGGTGGTGTGTGCCTGTAATTCTAGCTACTTGGGAGGCTGAGACAAGAGAATTGCTTGAACCCAAGAGGCAGAGGCTGCAGTGGGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAGTGTGGTGGTTTGGAGCAGGAAGGACCAGGACTTTCTCACTGCCCTCCGCCTCTCCTCCCCCCAAGACAATGCAAGACCCTGGTGTGGGTAAGGGGGCTCGGGGAGAGCCCACAGGAGCTTCAAGCCCTGGCCTGGGTTTCAGACATCTCCTGTCTGCTTACCCTTTTTTCTCTCCTCAGTCCCCTGCCTCAAGATTCTCCTCAGCAAAGGCCTGGGGCTGGGCATTGTGGCTGGCTCACTTCTAGGTATGTCTCTTATCTTTCTTTCCAGCTGTTGGGTTGGGGTGGAGGTGCTGAGAGGCCATCAACTGTGTGGGTGTTCGTTCTATAGCTGTTGTGTTGCATCCCAAAGAATGGAGA
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TACTTGGGAGGCTGAGGCAGAACTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGTCATCGCGCCACTAAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTCTCAAATAAATAAATATGAGATAATGCAGTCGGGAGAAGGGAGGGAGAGAATTTTATTAAATGTGACGAACTGCCCCCCCCCCCCCCCCAGCAGGAGAGCAGCAAAATTTATGCAAATCTTTGACGGGGTTTTCCTTGTCCTGCCAGGATTAAAAGCCATGAGTTTCTTGTCACATGCCTTTCTATGCCTTCCATGGCTGGGTCTCAGGGAGCCGGAAGCAGCTGCTGAGGAGGGATGAAAATGTCAGTGTGTGACGATGCCTCATGGGTTCACCCCCCAAAGCCTGGCACAGCTGGTGTTGGGTCTGCCGTGCCTCCCTTCCTTCCTCCTCTTGGGGCCACTGGCTGCTCCAGTTCCCCATCCGTGGCAAGCCGGTAGAGCCATTCATCCCCGCAGCCTTCTTCCTGACCCTCGTACAGTTTCAAATGCAGCAGACAGCCAAAGCAATGAGTGGGGGGCTGTGGAACTTCATTCCCAAAGGCAGCGCCAGTGGCTCCTGAGCAATGAGAATGTCCTGTCCTGTCCACCATATTCAAGGCCAGCAGAAGAGCCCGATTAAACCCTCGCAGCACCTGGCATGCTCCTATCCCACCTACAAGGGGTTGAATCAAGAAGGAGCAGTGGGTACTCTGACCTCCACTGGGGGCTCCTGGGAACAGCATGCCCCCCACACGGGGCCACCTGCCAAGCCTAACTTCATGCCCCCAGTACTTGAGATGAGGAGTGTCACTCTCAGGACAGCCAAGGTCCAGATTCCAGAAAGGACCTCCCAGATGGCCACAGCCTGCACCAGCAGTGAGCGCCAGTCCCACCCATTACAGCTGGCTACGGCGCAATCCCTGGGAGCCAGGATGAGCAGCACCCCCCAGCCGTAGGAGCCCCAGGAGGCTTCCGGCCTCCAAGGCCCAGAGACTGCCCCACAAGGGCAGCCCTCACCTGGCAGGGCCCCAGCAGCCCCACCTCTGCCTGCAGACATCCGTGTGACCTTGTAGACTTTGGAGGGGGGCCGCCAAAGGGCTGATCCACAGCGGAATGACGCACGGGTGGGCACCGTGGGTTGGCGTCCCGGCGGTCGGTAACGAAGCACAACGCCCCCACCAGGTAGTCCAAGGTGCCCTTTCCCAAGCAGCGCTGCAGGGTCCACTCGGCCTCGCCGAAGTCTCTGCCCAGCACGTGGTGCGCCCTCGGGCCAGCGGGGAGGGGGCGAATCCCGGGACTGCCTCGCCAGGCCTCGGCTCCCCGGAGACTCTTGGGGGTCTGGGCCCCAAGGGTGATTCAGGTGCTGCCCTTCCCCGACCTGGGCTCGCCTCCCCCACCTCCTCCTCTGCTTCACTGTCCCGGGCCCAGCAGTTGCCGGCGCACTCATGCTCCGAGGCCTGAGCCAACCGGAGGCGAGACAAGCACAGGGCCCTGCGCGCAACCCGGCACCTAAGGAGGCCTGCCCGGTGCAGACTCTCCTGCTCCCACCGGCGCCCTTCCCTCTAGAGACGCTGAGAGAACGGGAGCTAGTAGCGCCCCCACCCAACGCCACCTCGGAGACTCCGGCTCCTTCTCTCTCAACTTCGAACAATACAAAGTGTGCTAGGAGAAGACAAGATGGCGCCCAGCAGGAGGAGCGGAGAAAGGCAGGGGTGTAAATCTGGCTTCCAAACTGGAAGCGTCAACAAAGGCGTGGGAGGTCTAACCGCGCAGGCGTGCAGCTTCGGCAAGCTTTACAATTCCAACAGCGCGTCCAAAACGTGGTCCCTGACTGAGACTTATTTTACGCCACTAGAGTGAGGGTGGGTAGCGTCAGAAAGAGCGGGGCACGGGGCGGGCCAGCTTCGCCGCGGGAAAAGAACGGGAGGCGGAGTGTCCGCAGCGCGCACGCGCAACGAAAGTCAATGGCGGTCTGGAGAGACTGGCGGAAGCTAGCTTTGCAATACGGCGGCCGAGGCGGACGGACCGCTTAAACGGCTGCTCGTGCCGATTCTTTTACCTGAGAAATGCTACGACCAACTTTTCGTTCAGTGGGACTTGCTTCACGGTGAGTTTTATTCAGCATCCGATCCAAGTCCTACTCGAGTGACCGTGGGCCCTTAGTCCAAGCCTTGATCGGCGACTAAGTGACGGCAGTGACTGCCGCCATGCCGAGCTGGACGGAAGTCACTTCTGAGAAGGGCGGAAGTGTCTCGGGCTCCTTAGAGGGAGGACACCATATTAGTGCCAGTGGGGAAGTCACCGGGTGGAATTACTTCTTTGTGGAGTTTGTGCTGTAGCGACAATGAAAAACGAAGAGTCAACTTTTATAAAACAAAATAAAAATTAAGTCAAATCATGCCAACCTTTATTAGATCGCTAGCAGGGTTAAACTTAATTCAAAGCCCCTGATGAATCGGGCCTTCATTGCACCCCCAAAGGCTCCGCCACCCTGATTGCTTTCTTTCCAGCCTCCAGGTTTGCTCATAGTCTGATTTCGGAATAATTTGCCTCCCTTCCTTTTTCTGATTGCGAGACAGCTCCACAAGGGTCACCGTCAGACCGTTTGGGGAGCGTCAGTCTGCCCCTGTCAGTTCATGGTACCTCTCTTGAGCTCGTGGGGCACTTTGTTTTAGCCGCATTCATGACCCGTGAGAGTCAGACTCCCACTAGACCAAGTTCCTTGAGGGGAAGGCTTCAAGGCTAGAGAAGTTGTGGATGGCCAGGGCATAAAAGCAAGCCTTGAAAGGGTAAGGTTTAGTCCCTGAGTAGGGGCCAGGGACAGTCAGAGTGTTCAAGAAAGAGTGGTATGGGGCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAATAGGGCGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTTGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGACAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAATTAAAATAAGAAAAAAAAAATGGTATGAAGACTTGTCTTTGGAGAGAGAAGACATGTGAAATGGGGCACCCATTGGCCCAGAGAAGGGAAATAAAGGATCAGAGAGCTCTTGGGCATTTCTCAGCTTTATATGGGGAAGCAATGGAGAGCCGTGGAGGTCAAGCCAAGTTTGGGTGTTAATTTATAGGGAATGGAAGATTGGATGTGGGGGGTGGTAGGCATCGGAGAAAAGCTGTTTTGGAAAGTAACAGTCTGGGGCCCGGTGCGGTAGCTCGAGCTTATAATCCCAGCACTTTAAGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATTAACCGGGCATGGTGGTGTGTGCCTGTAATTCTAGCTACTTGGGAGGCTGAGACAAGAGAATTGCTTGAACCCAAGAGGCAGAGGCTGCAGTGGGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAGTGTGGTGGTTTGGAGCAGGAAGGACCAGGACTTTCTCACTGCCCTCCGCCTCTCCTCCCCCCAAGACAATGCAAGACCCTGGTGTGGGTAAGGGGGCTCGGGGAGAGCCCACAGGAGCTTCAAGCCCTGGCCTGGGTTTCAGACATCTCCTGTCTGCTTACCCTTTTTTCTCTCCTCAGTCCCCTGCCTCAAGATTCTCCTCAGCAAAGGCCTGGGGCTGGGCATTGTGGCTGGCTCACTTCTAGGTATGTCTCTTATCTTTCTTTCCAGCTGTTGGGTTGGGGTGGAGGTGCTGAGAGGCCATCAACTGTGTGGGTGTTCGTTCTATAGCTGTTGTGTTGCATCCCAAAGAATGGAGA
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Task1_train_23361
|
This alteration in MPDU1 (mannose-P-dolichol utilization defect 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; MPDU1-congenital disorder of glycosylation
|
GTGGGACTTGCTTCACGGTGAGTTTTATTCAGCATCCGATCCAAGTCCTACTCGAGTGACCGTGGGCCCTTAGTCCAAGCCTTGATCGGCGACTAAGTGACGGCAGTGACTGCCGCCATGCCGAGCTGGACGGAAGTCACTTCTGAGAAGGGCGGAAGTGTCTCGGGCTCCTTAGAGGGAGGACACCATATTAGTGCCAGTGGGGAAGTCACCGGGTGGAATTACTTCTTTGTGGAGTTTGTGCTGTAGCGACAATGAAAAACGAAGAGTCAACTTTTATAAAACAAAATAAAAATTAAGTCAAATCATGCCAACCTTTATTAGATCGCTAGCAGGGTTAAACTTAATTCAAAGCCCCTGATGAATCGGGCCTTCATTGCACCCCCAAAGGCTCCGCCACCCTGATTGCTTTCTTTCCAGCCTCCAGGTTTGCTCATAGTCTGATTTCGGAATAATTTGCCTCCCTTCCTTTTTCTGATTGCGAGACAGCTCCACAAGGGTCACCGTCAGACCGTTTGGGGAGCGTCAGTCTGCCCCTGTCAGTTCATGGTACCTCTCTTGAGCTCGTGGGGCACTTTGTTTTAGCCGCATTCATGACCCGTGAGAGTCAGACTCCCACTAGACCAAGTTCCTTGAGGGGAAGGCTTCAAGGCTAGAGAAGTTGTGGATGGCCAGGGCATAAAAGCAAGCCTTGAAAGGGTAAGGTTTAGTCCCTGAGTAGGGGCCAGGGACAGTCAGAGTGTTCAAGAAAGAGTGGTATGGGGCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAATAGGGCGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTTGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGACAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAATTAAAATAAGAAAAAAAAAATGGTATGAAGACTTGTCTTTGGAGAGAGAAGACATGTGAAATGGGGCACCCATTGGCCCAGAGAAGGGAAATAAAGGATCAGAGAGCTCTTGGGCATTTCTCAGCTTTATATGGGGAAGCAATGGAGAGCCGTGGAGGTCAAGCCAAGTTTGGGTGTTAATTTATAGGGAATGGAAGATTGGATGTGGGGGGTGGTAGGCATCGGAGAAAAGCTGTTTTGGAAAGTAACAGTCTGGGGCCCGGTGCGGTAGCTCGAGCTTATAATCCCAGCACTTTAAGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATTAACCGGGCATGGTGGTGTGTGCCTGTAATTCTAGCTACTTGGGAGGCTGAGACAAGAGAATTGCTTGAACCCAAGAGGCAGAGGCTGCAGTGGGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAGTGTGGTGGTTTGGAGCAGGAAGGACCAGGACTTTCTCACTGCCCTCCGCCTCTCCTCCCCCCAAGACAATGCAAGACCCTGGTGTGGGTAAGGGGGCTCGGGGAGAGCCCACAGGAGCTTCAAGCCCTGGCCTGGGTTTCAGACATCTCCTGTCTGCTTACCCTTTTTTCTCTCCTCAGTCCCCTGCCTCAAGATTCTCCTCAGCAAAGGCCTGGGGCTGGGCATTGTGGCTGGCTCACTTCTAGGTATGTCTCTTATCTTTCTTTCCAGCTGTTGGGTTGGGGTGGAGGTGCTGAGAGGCCATCAACTGTGTGGGTGTTCGTTCTATAGCTGTTGTGTTGCATCCCAAAGAATGGAGAGTCCTCAGTCCTACTTTTCTCATCTTTCCCCTAGTAAAGCTGCCCCAGGTGTTTAAAATCCTGGGAGCCAAGAGTGCTGAAGGGTTGAGTCTCCAGTCTGTAATGCTGGAGCTAGTGGCATTGACTGGGACCATGGTCTACAGCATCACTAACAACTTCCCATTCAGGTGAGGGGCCCACCCTTCCACCCCAAGGGTAATACCCACAACTCTAATGGGGATTAAGGTGAAGGAGGTTACAAGGCAGCAAAGTGGCCGGGCCCAGTGGCTTGCACCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAACTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCAGTCTTAAAAAAAAAAAAAAGGGACAAGGGGCTAGGAAAGTTTTAAGCCCTTTTAGAAACCTAATCATCACCAGTGGAGGTGATCTTGAGAAGGGGTGAGCATCCCGAGAATGGCCACGATTCAGAATGAGCCAGTCCCGTGTGGGGGCTGTAGAGAAGCGTGATCAGAGCATAGTGTCCCTGGATGGATGGGCTATGGAGGCTTTCCCTGCCTCTTTCTAGGCCCGCCTTTCTTCCTCCCAACTCTTGACTCTGCAGCTCTTGGGGTGAAGCCTTATTCCTGATGCTCCAGACGATCACCATCTGCTTCCTGGTCATGCACTACAGAGGACAGACTGTGAAAGGTGCTGGGGACTTACCCAAGAGCAGGCTGTGTGGTTCCTGGGAACCCTGCTGGGAACTCAGGTCTGGGAAAGCCAAATGATGTGGAGAGATTGACAAGGACTCCTGTCTCCCCACCCCTAGGTGTCGCTTTCCTCGCTTGCTACGGCCTGGTCCTGCTGGTGCTTCTCTCACCTCTGACGCCCTTGACTGTAGTCACCCTGCTCCAGGCCTCCAATGTGCCTGCTGTGGTGGTGGGGAGGGTGGGTACCAGGAGCAAGGGACAAGATGTTGTGGGGGCAGGGTGGGGGGGAAGAGTAGAAGATCAAAGTGTGGGGGTGTTGTACTTGGGGGAGCATGGGAAGAGCTCAGGTGACAGAGCCAAAGGTCTCAACTCCTCCCCTAGCTTCTCCAGGCAGCCACCAACTACCACAACGGGCACACAGGCCAGCTCTCAGCCATCACAGTCTTCCTGCTGTTTGGGGGCTCCCTGGCCCGAATCTTCACTTCCATTCAGGTGAGTGCAACATCTTCCTTCTAGAAGGCACTAAAACCTCGTCTTACTTCTCCCAGCTAAGGGCCAAAGCTGCCCCGTGAGGAACCTTTGTCCATAAGGGAACCTTTCTTGAGCTATGCTGAAGGGTAACCCTGGCTCTGTCTCTTGCAACCAGGAAACCGGAGATCCCCTGATGGCTGGGACCTTTGTGGTCTCCTCTCTCTGCAACGGCCTCATCGCCGCCCAGCTGCTCTTCTACTGGAATGCAAAGCCTCCCCACAAGCAGAAAAAGGCGCAGTAGAGCCAGCTACTGGAGTCATTCCGTTTCCACTCATTCACCCAACCTCAGGGTTCTCCCCATCTGAGCCAGCCTGCTGGTGTGACTTACTCATCCTCCATTCCTCTGCACTTGCAGACTTTCTGAGCCAGGGTTTTCTTTTAGTGGAAACAAATGGTTGATGGATCCAGATCCTTAGAAAAGGAGAGGATGGGGGTAGAGTCTCCCAAGCCAAAATTTTGACATTTGAGTGCTTTCGTAAGCCCTGTACATGTACTATTAATTCAGTCATTCAGCCAAGCCTCCTCCTCTAGCAGCAATTTCCAGCTGTGTAACACTATCCTGGGCAAATGTTTTACCCTGTCCTCCAGCCTCCCTGCTTCCCTTCTGGCCCTGGAAGACTGAGTCTGGACGGCAGAGTGGAGGGACTGGGAGGCTGTGGCTGCCTCCCTCCCTCAGCCCGGCTGGGACTGTCTCCCGGACCCCAGTGCTGGGGTGGGGGAAGGGGGACGGAGAA
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GTGGGACTTGCTTCACGGTGAGTTTTATTCAGCATCCGATCCAAGTCCTACTCGAGTGACCGTGGGCCCTTAGTCCAAGCCTTGATCGGCGACTAAGTGACGGCAGTGACTGCCGCCATGCCGAGCTGGACGGAAGTCACTTCTGAGAAGGGCGGAAGTGTCTCGGGCTCCTTAGAGGGAGGACACCATATTAGTGCCAGTGGGGAAGTCACCGGGTGGAATTACTTCTTTGTGGAGTTTGTGCTGTAGCGACAATGAAAAACGAAGAGTCAACTTTTATAAAACAAAATAAAAATTAAGTCAAATCATGCCAACCTTTATTAGATCGCTAGCAGGGTTAAACTTAATTCAAAGCCCCTGATGAATCGGGCCTTCATTGCACCCCCAAAGGCTCCGCCACCCTGATTGCTTTCTTTCCAGCCTCCAGGTTTGCTCATAGTCTGATTTCGGAATAATTTGCCTCCCTTCCTTTTTCTGATTGCGAGACAGCTCCACAAGGGTCACCGTCAGACCGTTTGGGGAGCGTCAGTCTGCCCCTGTCAGTTCATGGTACCTCTCTTGAGCTCGTGGGGCACTTTGTTTTAGCCGCATTCATGACCCGTGAGAGTCAGACTCCCACTAGACCAAGTTCCTTGAGGGGAAGGCTTCAAGGCTAGAGAAGTTGTGGATGGCCAGGGCATAAAAGCAAGCCTTGAAAGGGTAAGGTTTAGTCCCTGAGTAGGGGCCAGGGACAGTCAGAGTGTTCAAGAAAGAGTGGTATGGGGCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAATAGGGCGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTTGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGACAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAATTAAAATAAGAAAAAAAAAATGGTATGAAGACTTGTCTTTGGAGAGAGAAGACATGTGAAATGGGGCACCCATTGGCCCAGAGAAGGGAAATAAAGGATCAGAGAGCTCTTGGGCATTTCTCAGCTTTATATGGGGAAGCAATGGAGAGCCGTGGAGGTCAAGCCAAGTTTGGGTGTTAATTTATAGGGAATGGAAGATTGGATGTGGGGGGTGGTAGGCATCGGAGAAAAGCTGTTTTGGAAAGTAACAGTCTGGGGCCCGGTGCGGTAGCTCGAGCTTATAATCCCAGCACTTTAAGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATTAACCGGGCATGGTGGTGTGTGCCTGTAATTCTAGCTACTTGGGAGGCTGAGACAAGAGAATTGCTTGAACCCAAGAGGCAGAGGCTGCAGTGGGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAGTGTGGTGGTTTGGAGCAGGAAGGACCAGGACTTTCTCACTGCCCTCCGCCTCTCCTCCCCCCAAGACAATGCAAGACCCTGGTGTGGGTAAGGGGGCTCGGGGAGAGCCCACAGGAGCTTCAAGCCCTGGCCTGGGTTTCAGACATCTCCTGTCTGCTTACCCTTTTTTCTCTCCTCAGTCCCCTGCCTCAAGATTCTCCTCAGCAAAGGCCTGGGGCTGGGCATTGTGGCTGGCTCACTTCTAGGTATGTCTCTTATCTTTCTTTCCAGCTGTTGGGTTGGGGTGGAGGTGCTGAGAGGCCATCAACTGTGTGGGTGTTCGTTCTATAGCTGTTGTGTTGCATCCCAAAGAATGGAGAGTCCTCAGTCCTACTTTTCTCATCTTTCCCCTAGTAAAGCTGCCCCAGGTGTTTAAAATCCTGGGAGCCAAGAGTGCTGAAGGGTCGAGTCTCCAGTCTGTAATGCTGGAGCTAGTGGCATTGACTGGGACCATGGTCTACAGCATCACTAACAACTTCCCATTCAGGTGAGGGGCCCACCCTTCCACCCCAAGGGTAATACCCACAACTCTAATGGGGATTAAGGTGAAGGAGGTTACAAGGCAGCAAAGTGGCCGGGCCCAGTGGCTTGCACCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAACTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCAGTCTTAAAAAAAAAAAAAAGGGACAAGGGGCTAGGAAAGTTTTAAGCCCTTTTAGAAACCTAATCATCACCAGTGGAGGTGATCTTGAGAAGGGGTGAGCATCCCGAGAATGGCCACGATTCAGAATGAGCCAGTCCCGTGTGGGGGCTGTAGAGAAGCGTGATCAGAGCATAGTGTCCCTGGATGGATGGGCTATGGAGGCTTTCCCTGCCTCTTTCTAGGCCCGCCTTTCTTCCTCCCAACTCTTGACTCTGCAGCTCTTGGGGTGAAGCCTTATTCCTGATGCTCCAGACGATCACCATCTGCTTCCTGGTCATGCACTACAGAGGACAGACTGTGAAAGGTGCTGGGGACTTACCCAAGAGCAGGCTGTGTGGTTCCTGGGAACCCTGCTGGGAACTCAGGTCTGGGAAAGCCAAATGATGTGGAGAGATTGACAAGGACTCCTGTCTCCCCACCCCTAGGTGTCGCTTTCCTCGCTTGCTACGGCCTGGTCCTGCTGGTGCTTCTCTCACCTCTGACGCCCTTGACTGTAGTCACCCTGCTCCAGGCCTCCAATGTGCCTGCTGTGGTGGTGGGGAGGGTGGGTACCAGGAGCAAGGGACAAGATGTTGTGGGGGCAGGGTGGGGGGGAAGAGTAGAAGATCAAAGTGTGGGGGTGTTGTACTTGGGGGAGCATGGGAAGAGCTCAGGTGACAGAGCCAAAGGTCTCAACTCCTCCCCTAGCTTCTCCAGGCAGCCACCAACTACCACAACGGGCACACAGGCCAGCTCTCAGCCATCACAGTCTTCCTGCTGTTTGGGGGCTCCCTGGCCCGAATCTTCACTTCCATTCAGGTGAGTGCAACATCTTCCTTCTAGAAGGCACTAAAACCTCGTCTTACTTCTCCCAGCTAAGGGCCAAAGCTGCCCCGTGAGGAACCTTTGTCCATAAGGGAACCTTTCTTGAGCTATGCTGAAGGGTAACCCTGGCTCTGTCTCTTGCAACCAGGAAACCGGAGATCCCCTGATGGCTGGGACCTTTGTGGTCTCCTCTCTCTGCAACGGCCTCATCGCCGCCCAGCTGCTCTTCTACTGGAATGCAAAGCCTCCCCACAAGCAGAAAAAGGCGCAGTAGAGCCAGCTACTGGAGTCATTCCGTTTCCACTCATTCACCCAACCTCAGGGTTCTCCCCATCTGAGCCAGCCTGCTGGTGTGACTTACTCATCCTCCATTCCTCTGCACTTGCAGACTTTCTGAGCCAGGGTTTTCTTTTAGTGGAAACAAATGGTTGATGGATCCAGATCCTTAGAAAAGGAGAGGATGGGGGTAGAGTCTCCCAAGCCAAAATTTTGACATTTGAGTGCTTTCGTAAGCCCTGTACATGTACTATTAATTCAGTCATTCAGCCAAGCCTCCTCCTCTAGCAGCAATTTCCAGCTGTGTAACACTATCCTGGGCAAATGTTTTACCCTGTCCTCCAGCCTCCCTGCTTCCCTTCTGGCCCTGGAAGACTGAGTCTGGACGGCAGAGTGGAGGGACTGGGAGGCTGTGGCTGCCTCCCTCCCTCAGCCCGGCTGGGACTGTCTCCCGGACCCCAGTGCTGGGGTGGGGGAAGGGGGACGGAGAA
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Task1_train_23362
|
An alteration has been detected in MPDU1 (mannose-P-dolichol utilization defect 1) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; MPDU1-congenital disorder of glycosylation
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AAAGAGTGGTATGGGGCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAATAGGGCGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTTGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGACAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAATTAAAATAAGAAAAAAAAAATGGTATGAAGACTTGTCTTTGGAGAGAGAAGACATGTGAAATGGGGCACCCATTGGCCCAGAGAAGGGAAATAAAGGATCAGAGAGCTCTTGGGCATTTCTCAGCTTTATATGGGGAAGCAATGGAGAGCCGTGGAGGTCAAGCCAAGTTTGGGTGTTAATTTATAGGGAATGGAAGATTGGATGTGGGGGGTGGTAGGCATCGGAGAAAAGCTGTTTTGGAAAGTAACAGTCTGGGGCCCGGTGCGGTAGCTCGAGCTTATAATCCCAGCACTTTAAGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATTAACCGGGCATGGTGGTGTGTGCCTGTAATTCTAGCTACTTGGGAGGCTGAGACAAGAGAATTGCTTGAACCCAAGAGGCAGAGGCTGCAGTGGGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAGTGTGGTGGTTTGGAGCAGGAAGGACCAGGACTTTCTCACTGCCCTCCGCCTCTCCTCCCCCCAAGACAATGCAAGACCCTGGTGTGGGTAAGGGGGCTCGGGGAGAGCCCACAGGAGCTTCAAGCCCTGGCCTGGGTTTCAGACATCTCCTGTCTGCTTACCCTTTTTTCTCTCCTCAGTCCCCTGCCTCAAGATTCTCCTCAGCAAAGGCCTGGGGCTGGGCATTGTGGCTGGCTCACTTCTAGGTATGTCTCTTATCTTTCTTTCCAGCTGTTGGGTTGGGGTGGAGGTGCTGAGAGGCCATCAACTGTGTGGGTGTTCGTTCTATAGCTGTTGTGTTGCATCCCAAAGAATGGAGAGTCCTCAGTCCTACTTTTCTCATCTTTCCCCTAGTAAAGCTGCCCCAGGTGTTTAAAATCCTGGGAGCCAAGAGTGCTGAAGGGTTGAGTCTCCAGTCTGTAATGCTGGAGCTAGTGGCATTGACTGGGACCATGGTCTACAGCATCACTAACAACTTCCCATTCAGGTGAGGGGCCCACCCTTCCACCCCAAGGGTAATACCCACAACTCTAATGGGGATTAAGGTGAAGGAGGTTACAAGGCAGCAAAGTGGCCGGGCCCAGTGGCTTGCACCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAACTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCAGTCTTAAAAAAAAAAAAAAGGGACAAGGGGCTAGGAAAGTTTTAAGCCCTTTTAGAAACCTAATCATCACCAGTGGAGGTGATCTTGAGAAGGGGTGAGCATCCCGAGAATGGCCACGATTCAGAATGAGCCAGTCCCGTGTGGGGGCTGTAGAGAAGCGTGATCAGAGCATAGTGTCCCTGGATGGATGGGCTATGGAGGCTTTCCCTGCCTCTTTCTAGGCCCGCCTTTCTTCCTCCCAACTCTTGACTCTGCAGCTCTTGGGGTGAAGCCTTATTCCTGATGCTCCAGACGATCACCATCTGCTTCCTGGTCATGCACTACAGAGGACAGACTGTGAAAGGTGCTGGGGACTTACCCAAGAGCAGGCTGTGTGGTTCCTGGGAACCCTGCTGGGAACTCAGGTCTGGGAAAGCCAAATGATGTGGAGAGATTGACAAGGACTCCTGTCTCCCCACCCCTAGGTGTCGCTTTCCTCGCTTGCTACGGCCTGGTCCTGCTGGTGCTTCTCTCACCTCTGACGCCCTTGACTGTAGTCACCCTGCTCCAGGCCTCCAATGTGCCTGCTGTGGTGGTGGGGAGGGTGGGTACCAGGAGCAAGGGACAAGATGTTGTGGGGGCAGGGTGGGGGGGAAGAGTAGAAGATCAAAGTGTGGGGGTGTTGTACTTGGGGGAGCATGGGAAGAGCTCAGGTGACAGAGCCAAAGGTCTCAACTCCTCCCCTAGCTTCTCCAGGCAGCCACCAACTACCACAACGGGCACACAGGCCAGCTCTCAGCCATCACAGTCTTCCTGCTGTTTGGGGGCTCCCTGGCCCGAATCTTCACTTCCATTCAGGTGAGTGCAACATCTTCCTTCTAGAAGGCACTAAAACCTCGTCTTACTTCTCCCAGCTAAGGGCCAAAGCTGCCCCGTGAGGAACCTTTGTCCATAAGGGAACCTTTCTTGAGCTATGCTGAAGGGTAACCCTGGCTCTGTCTCTTGCAACCAGGAAACCGGAGATCCCCTGATGGCTGGGACCTTTGTGGTCTCCTCTCTCTGCAACGGCCTCATCGCCGCCCAGCTGCTCTTCTACTGGAATGCAAAGCCTCCCCACAAGCAGAAAAAGGCGCAGTAGAGCCAGCTACTGGAGTCATTCCGTTTCCACTCATTCACCCAACCTCAGGGTTCTCCCCATCTGAGCCAGCCTGCTGGTGTGACTTACTCATCCTCCATTCCTCTGCACTTGCAGACTTTCTGAGCCAGGGTTTTCTTTTAGTGGAAACAAATGGTTGATGGATCCAGATCCTTAGAAAAGGAGAGGATGGGGGTAGAGTCTCCCAAGCCAAAATTTTGACATTTGAGTGCTTTCGTAAGCCCTGTACATGTACTATTAATTCAGTCATTCAGCCAAGCCTCCTCCTCTAGCAGCAATTTCCAGCTGTGTAACACTATCCTGGGCAAATGTTTTACCCTGTCCTCCAGCCTCCCTGCTTCCCTTCTGGCCCTGGAAGACTGAGTCTGGACGGCAGAGTGGAGGGACTGGGAGGCTGTGGCTGCCTCCCTCCCTCAGCCCGGCTGGGACTGTCTCCCGGACCCCAGTGCTGGGGTGGGGGAAGGGGGACGGAGAATGACTCAGGCAGGGCCCCAGGGTGGGGTGAGGAGGTTCCTGCTCTGGCAGGTCTAGGCGGAAGGGAGTGGAGATGGGGCTGGTTCCTGCTGCAGTGAGGGGAACAGATGGGACAATAAAGACTGGAGACTCAGTTGAATAATACAAAACTGTTTAATACTACCAAAAATATAATTGTATGTTGTGCGGCTCTCCCTGGCTATCATGGGAGGACTGCAGGCTGCCTCTGAACTGTAGTCCAACAGGAGAAAGGGTTGACAGCCTGGGGTAGGGGATGCTGCTGGATTAAAAAAGGAGGATGAGGCCCGTCCCGTGAGGTCTGCGTCCATGAGGGTTAGAGGTGGGTTAGGGGCATGGGGGCACCAGCAAGGGGAGGGTTGTATGGAGTGGGAGAGCCAGGGGGCAGGTAGTGGGTATAGGTGGGCAGCAGTTCCCCCTGGAGCCTAGGGTCACTCTGAGGGAGGGAGCACGGTGAGGGGGCTTCCAGTTTGCAGTGGGAAGAGCTGCAGAGAGAAACAAGAGGTTAGAGGGCACTTCCCTGGGTTGGAGGTGAGTCTGGCCAGTTCTGGGCAGACAGGGTAGAGCGTGCCACCCACCCAGCCCTGGCTACCCAGCCCGCTGGGCGCAGCAGGCATGGAAGCCGACCCCGGGATGGAGAGCCCGCGGCCCTGTTGGGGCACGCTCGGGAGCGGGCTTGCGTGCTGCACGGCTGTTTTCCTCTTGGGGAGTCAGGCCAGGAAAGGGCAGAA
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AAAGAGTGGTATGGGGCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAATAGGGCGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTTGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGACAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAATTAAAATAAGAAAAAAAAAATGGTATGAAGACTTGTCTTTGGAGAGAGAAGACATGTGAAATGGGGCACCCATTGGCCCAGAGAAGGGAAATAAAGGATCAGAGAGCTCTTGGGCATTTCTCAGCTTTATATGGGGAAGCAATGGAGAGCCGTGGAGGTCAAGCCAAGTTTGGGTGTTAATTTATAGGGAATGGAAGATTGGATGTGGGGGGTGGTAGGCATCGGAGAAAAGCTGTTTTGGAAAGTAACAGTCTGGGGCCCGGTGCGGTAGCTCGAGCTTATAATCCCAGCACTTTAAGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATTAACCGGGCATGGTGGTGTGTGCCTGTAATTCTAGCTACTTGGGAGGCTGAGACAAGAGAATTGCTTGAACCCAAGAGGCAGAGGCTGCAGTGGGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAGTGTGGTGGTTTGGAGCAGGAAGGACCAGGACTTTCTCACTGCCCTCCGCCTCTCCTCCCCCCAAGACAATGCAAGACCCTGGTGTGGGTAAGGGGGCTCGGGGAGAGCCCACAGGAGCTTCAAGCCCTGGCCTGGGTTTCAGACATCTCCTGTCTGCTTACCCTTTTTTCTCTCCTCAGTCCCCTGCCTCAAGATTCTCCTCAGCAAAGGCCTGGGGCTGGGCATTGTGGCTGGCTCACTTCTAGGTATGTCTCTTATCTTTCTTTCCAGCTGTTGGGTTGGGGTGGAGGTGCTGAGAGGCCATCAACTGTGTGGGTGTTCGTTCTATAGCTGTTGTGTTGCATCCCAAAGAATGGAGAGTCCTCAGTCCTACTTTTCTCATCTTTCCCCTAGTAAAGCTGCCCCAGGTGTTTAAAATCCTGGGAGCCAAGAGTGCTGAAGGGTTGAGTCTCCAGTCTGTAATGCTGGAGCTAGTGGCATTGACTGGGACCATGGTCTACAGCATCACTAACAACTTCCCATTCAGGTGAGGGGCCCACCCTTCCACCCCAAGGGTAATACCCACAACTCTAATGGGGATTAAGGTGAAGGAGGTTACAAGGCAGCAAAGTGGCCGGGCCCAGTGGCTTGCACCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAACTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCAGTCTTAAAAAAAAAAAAAAGGGACAAGGGGCTAGGAAAGTTTTAAGCCCTTTTAGAAACCTAATCATCACCAGTGGAGGTGATCTTGAGAAGGGGTGAGCATCCCGAGAATGGCCACGATTCAGAATGAGCCAGTCCCGTGTGGGGGCTGTAGAGAAGCGTGATCAGAGCATAGTGTCCCTGGATGGATGGGCTATGGAGGCTTTCCCTGCCTCTTTCTAGGCCCGCCTTTCTTCCTCCCAACTCTTGACTCTGCAGCTCTTGGGGTGAAGCCTTATTCCTGATGCTCCAGACGATCACCATCTGCTTCCCGGTCATGCACTACAGAGGACAGACTGTGAAAGGTGCTGGGGACTTACCCAAGAGCAGGCTGTGTGGTTCCTGGGAACCCTGCTGGGAACTCAGGTCTGGGAAAGCCAAATGATGTGGAGAGATTGACAAGGACTCCTGTCTCCCCACCCCTAGGTGTCGCTTTCCTCGCTTGCTACGGCCTGGTCCTGCTGGTGCTTCTCTCACCTCTGACGCCCTTGACTGTAGTCACCCTGCTCCAGGCCTCCAATGTGCCTGCTGTGGTGGTGGGGAGGGTGGGTACCAGGAGCAAGGGACAAGATGTTGTGGGGGCAGGGTGGGGGGGAAGAGTAGAAGATCAAAGTGTGGGGGTGTTGTACTTGGGGGAGCATGGGAAGAGCTCAGGTGACAGAGCCAAAGGTCTCAACTCCTCCCCTAGCTTCTCCAGGCAGCCACCAACTACCACAACGGGCACACAGGCCAGCTCTCAGCCATCACAGTCTTCCTGCTGTTTGGGGGCTCCCTGGCCCGAATCTTCACTTCCATTCAGGTGAGTGCAACATCTTCCTTCTAGAAGGCACTAAAACCTCGTCTTACTTCTCCCAGCTAAGGGCCAAAGCTGCCCCGTGAGGAACCTTTGTCCATAAGGGAACCTTTCTTGAGCTATGCTGAAGGGTAACCCTGGCTCTGTCTCTTGCAACCAGGAAACCGGAGATCCCCTGATGGCTGGGACCTTTGTGGTCTCCTCTCTCTGCAACGGCCTCATCGCCGCCCAGCTGCTCTTCTACTGGAATGCAAAGCCTCCCCACAAGCAGAAAAAGGCGCAGTAGAGCCAGCTACTGGAGTCATTCCGTTTCCACTCATTCACCCAACCTCAGGGTTCTCCCCATCTGAGCCAGCCTGCTGGTGTGACTTACTCATCCTCCATTCCTCTGCACTTGCAGACTTTCTGAGCCAGGGTTTTCTTTTAGTGGAAACAAATGGTTGATGGATCCAGATCCTTAGAAAAGGAGAGGATGGGGGTAGAGTCTCCCAAGCCAAAATTTTGACATTTGAGTGCTTTCGTAAGCCCTGTACATGTACTATTAATTCAGTCATTCAGCCAAGCCTCCTCCTCTAGCAGCAATTTCCAGCTGTGTAACACTATCCTGGGCAAATGTTTTACCCTGTCCTCCAGCCTCCCTGCTTCCCTTCTGGCCCTGGAAGACTGAGTCTGGACGGCAGAGTGGAGGGACTGGGAGGCTGTGGCTGCCTCCCTCCCTCAGCCCGGCTGGGACTGTCTCCCGGACCCCAGTGCTGGGGTGGGGGAAGGGGGACGGAGAATGACTCAGGCAGGGCCCCAGGGTGGGGTGAGGAGGTTCCTGCTCTGGCAGGTCTAGGCGGAAGGGAGTGGAGATGGGGCTGGTTCCTGCTGCAGTGAGGGGAACAGATGGGACAATAAAGACTGGAGACTCAGTTGAATAATACAAAACTGTTTAATACTACCAAAAATATAATTGTATGTTGTGCGGCTCTCCCTGGCTATCATGGGAGGACTGCAGGCTGCCTCTGAACTGTAGTCCAACAGGAGAAAGGGTTGACAGCCTGGGGTAGGGGATGCTGCTGGATTAAAAAAGGAGGATGAGGCCCGTCCCGTGAGGTCTGCGTCCATGAGGGTTAGAGGTGGGTTAGGGGCATGGGGGCACCAGCAAGGGGAGGGTTGTATGGAGTGGGAGAGCCAGGGGGCAGGTAGTGGGTATAGGTGGGCAGCAGTTCCCCCTGGAGCCTAGGGTCACTCTGAGGGAGGGAGCACGGTGAGGGGGCTTCCAGTTTGCAGTGGGAAGAGCTGCAGAGAGAAACAAGAGGTTAGAGGGCACTTCCCTGGGTTGGAGGTGAGTCTGGCCAGTTCTGGGCAGACAGGGTAGAGCGTGCCACCCACCCAGCCCTGGCTACCCAGCCCGCTGGGCGCAGCAGGCATGGAAGCCGACCCCGGGATGGAGAGCCCGCGGCCCTGTTGGGGCACGCTCGGGAGCGGGCTTGCGTGCTGCACGGCTGTTTTCCTCTTGGGGAGTCAGGCCAGGAAAGGGCAGAA
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Task1_train_23363
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Here is a variant affecting TP53 (tumor protein p53) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Hereditary cancer-predisposing syndrome
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ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG
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ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTTCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG
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Task1_train_23364
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Here’s a variant in TP53 (tumor protein p53) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Li-Fraumeni syndrome
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ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG
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ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTTCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG
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Task1_train_23365
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A variant was discovered on Chromosome 17, affecting TP53 (tumor protein p53). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Li-Fraumeni syndrome 1
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ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG
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ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTTCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG
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Task1_train_23366
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Consider this mutation in TP53 (tumor protein p53) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Neoplasm
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ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG
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ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTTCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG
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Task1_train_23367
|
Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Li-Fraumeni syndrome
|
ATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGG
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ATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCACTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGG
|
Task1_train_23368
|
Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Neoplasm
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ATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGG
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ATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCACTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGG
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Task1_train_23369
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With a mutation on Chromosome 17 in gene TP53 (tumor protein p53), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Hereditary cancer-predisposing syndrome
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TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTC
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TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCCGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTC
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Task1_train_23370
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A variant has been detected on Chromosome 17 in TP53 (tumor protein p53). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Li-Fraumeni syndrome
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TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTC
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TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCCGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTC
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Task1_train_23371
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A variant affecting Chromosome 17, within the gene TP53 (tumor protein p53), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Li-Fraumeni syndrome 1
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TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTC
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TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCCGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTC
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Task1_train_23372
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A variant found in Chromosome 17 affects TP53 (tumor protein p53). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Li-Fraumeni syndrome
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ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAA
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ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGCCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAA
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Task1_train_23373
|
Given this context: Chromosome 17, gene TP53 (tumor protein p53) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Hereditary cancer-predisposing syndrome
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ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAA
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ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGCCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAA
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Task1_train_23374
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Here’s a variant in TP53 (tumor protein p53) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Li-Fraumeni syndrome 1
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ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAA
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ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGCCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAA
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Task1_train_23375
|
This alteration occurs within gene TP53 (tumor protein p53) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Li-Fraumeni syndrome 1
|
TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC
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TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTATCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC
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Task1_train_23376
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The gene TP53 (tumor protein p53) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Li-Fraumeni syndrome
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TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC
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TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTATCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC
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Task1_train_23377
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A mutation in TP53 (tumor protein p53), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Neoplasm
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TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC
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TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTATCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC
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Task1_train_23378
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A change on Chromosome 17 affects gene TP53 (tumor protein p53). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Li-Fraumeni syndrome
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TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC
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TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTTTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC
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Task1_train_23379
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Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Hereditary cancer-predisposing syndrome
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TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC
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TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTTTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC
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Task1_train_23380
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Consider a variant on Chromosome 17 in gene TP53 (tumor protein p53). Determine its clinical classification and disease relevance.
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Pathogenic; Neoplasm
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TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC
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TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTTTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC
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Task1_train_23381
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Given this variant in gene TP53 (tumor protein p53) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Li-Fraumeni syndrome 1
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TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT
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TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCACTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT
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Task1_train_23382
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The following genetic variant occurs in TP53 (tumor protein p53) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Hereditary cancer-predisposing syndrome
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TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT
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TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCACTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT
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Task1_train_23383
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A genetic alteration is present in TP53 (tumor protein p53) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Li-Fraumeni syndrome
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TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT
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TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCACTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT
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Task1_train_23384
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Mutation context: Chromosome 17, Gene TP53 (tumor protein p53). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Familial cancer of breast
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TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT
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TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCACTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT
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Task1_train_23385
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Chromosome 17 houses a mutation in gene TP53 (tumor protein p53). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Li-Fraumeni syndrome 1
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AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACA
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AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGTACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACA
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Task1_train_23386
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An alteration has been detected in TP53 (tumor protein p53) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Li-Fraumeni syndrome
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AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACA
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AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGTACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACA
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Task1_train_23387
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A genomic change on Chromosome 17 affects TP53 (tumor protein p53). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Hereditary cancer-predisposing syndrome
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AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACA
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AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGTACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACA
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Task1_train_23388
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Here is a variant affecting TP53 (tumor protein p53) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Li-Fraumeni syndrome
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GCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGT
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GCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGCCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGT
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Task1_train_23389
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This genomic variant is located on Chromosome 17, within the TP53 (tumor protein p53) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Hereditary cancer-predisposing syndrome
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GCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGT
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GCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGCCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGT
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Task1_train_23390
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A mutation found in TP53 (tumor protein p53) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Li-Fraumeni syndrome
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TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAG
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TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCAAAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAG
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Task1_train_23391
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Here is a mutation in TP53 (tumor protein p53) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Hereditary cancer-predisposing syndrome
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TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAG
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TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCAAAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAG
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Task1_train_23392
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The following genetic variant occurs in TP53 (tumor protein p53) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Neoplasm
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TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAG
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TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCAAAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAG
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Task1_train_23393
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Gene TP53 (tumor protein p53) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Glioma susceptibility 1
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TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA
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TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACAAGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA
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Task1_train_23394
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This genomic variant is located on Chromosome 17, within the TP53 (tumor protein p53) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Bone osteosarcoma
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TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA
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TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACAAGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA
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Task1_train_23395
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Located on Chromosome 17, this mutation impacts TP53 (tumor protein p53). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Hepatocellular carcinoma
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TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA
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TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACAAGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA
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Task1_train_23396
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Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Adrenocortical carcinoma, hereditary
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TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA
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TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACAAGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA
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Task1_train_23397
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Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Carcinoma of pancreas
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TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA
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TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACAAGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA
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Task1_train_23398
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The gene TP53 (tumor protein p53) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Choroid plexus papilloma
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TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA
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TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACAAGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA
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Task1_train_23399
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Here’s a variant in TP53 (tumor protein p53) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Colorectal cancer
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TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA
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TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACAAGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA
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Subsets and Splits
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