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_3700
|
A variant on Chromosome 2 in gene DYSF (dysferlin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B
|
GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
|
GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCTGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
|
Task1_train_3701
|
An alteration has been detected in DYSF (dysferlin) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Distal myopathy with anterior tibial onset
|
GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
|
GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCTGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
|
Task1_train_3702
|
This mutation occurs in DYSF (dysferlin) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B
|
GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
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GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCTGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
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Task1_train_3703
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Here’s a variant in DYSF (dysferlin) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Miyoshi muscular dystrophy 1
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GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
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GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCTGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
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Task1_train_3704
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A sequence alteration has been identified in DYSF (dysferlin) on Chromosome 2. Is it disease-inducing or harmless?
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Pathogenic; DYSF-related disorder
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GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
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GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCTGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
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Task1_train_3705
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A variant has been detected on Chromosome 2 in DYSF (dysferlin). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Qualitative or quantitative defects of dysferlin
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GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
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GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
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Task1_train_3706
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A variant was discovered on Chromosome 2, affecting DYSF (dysferlin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy
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GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
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GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
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Task1_train_3707
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Mutation context: Chromosome 2, Gene DYSF (dysferlin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Distal myopathy with anterior tibial onset
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GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
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GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
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Task1_train_3708
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A variant was discovered in gene DYSF (dysferlin), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B
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GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
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GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
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Task1_train_3709
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A variant found in Chromosome 2 affects DYSF (dysferlin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Miyoshi muscular dystrophy 1
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GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
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GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
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Task1_train_3710
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This mutation occurs in DYSF (dysferlin) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B
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GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
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GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
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Task1_train_3711
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The gene DYSF (dysferlin), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Miyoshi muscular dystrophy 1
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GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
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GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
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Task1_train_3712
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Gene DYSF (dysferlin) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Qualitative or quantitative defects of dysferlin
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CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGCGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
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CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGGGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
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Task1_train_3713
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Given this variant in gene DYSF (dysferlin) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Miyoshi muscular dystrophy 1
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CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGCGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
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CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGGGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
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Task1_train_3714
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A change on Chromosome 2 affects gene DYSF (dysferlin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Miyoshi muscular dystrophy 1
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CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGCGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
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CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGGGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
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Task1_train_3715
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Consider a variant on Chromosome 2 in gene DYSF (dysferlin). Determine its clinical classification and disease relevance.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B
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CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGCGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
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CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGGGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
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Task1_train_3716
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A variant was discovered on Chromosome 2, affecting DYSF (dysferlin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Distal myopathy with anterior tibial onset
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CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGCGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
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CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGGGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
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Task1_train_3717
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Consider a variant on Chromosome 2 in gene DYSF (dysferlin). Determine its clinical classification and disease relevance.
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Pathogenic; Qualitative or quantitative defects of dysferlin
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GAAAGGCAGTTCTTACATGGTAGTGGCAAGAGAAAAGGAGGAGGAAGCAAAAGCAGAAACACCTGATAAACCCAACAGATCTCATGATACTTATTTACTATCACGAGAATAGCATGGGAAAGACTGGCCCCCATGATTCAATTATCTCCTCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTGGGTGGGGACACAGCCAAACCATATCAACAATGATGATAAAAATGAAAATTAACCCTTCCTTCTTTTCAGGGCCTCTTCAAAATTTATCCCCTCCCAGAAGACCCAGCCATCCCCATGCCCCCAAGACAGTTCCACCAGCTGGCCGCCCAGGGACCCCAGGAGTGCTTGGTCCGTATCTACATTGTCCGAGCATTTGGCCTGCAGCCCAAGGACCCCAATGGAAAGGTAACTTTCCTAGAGCCCTCACCTCCCCCAGAGTAGCAGGCTCAGGTACAAGTGGCCTATAGAACCTGGACACAAACTCTGCCTCAGGGAGTTCATAGTAGGTTGGGAAACAGACAAACACACAAAACTGAGAGGTGCCTGGATGGAGTTGTGTTAAGGACCAAGTGCTCTAGAAGGTCAGGGAAGGCCAGTGTCAGTACAGGACTTTGGGAAAATGGGGAAGGCTTCCTGGAAGGAATAGGACTCTTAGGATAGATGAGATTTTGATAGGCTGGGAGGGAGAAGAAAATAGTGTTTTAAGAGGGGCCAAAAGCATAGGCAAAGGTTTGAAAGAAAATTGCTTAATGTGTGTCTAGAACAAGAATAAAGCAGAAAGATAAGTAAGGCTGAGGGTATAGGTTGGGACTCTCAATGGTTAATGGGGAGGAGTGATGGGGGAAAGGAGCAGCGTTAGTGACTGCTATGCCTAGTCATGGCAGAGTCCCAGGTAAAAGGGAATGCTGGTAACACTCACCCGGTCTTTATTTAAAATTTTGATATTTTGTTCATCATGGACTATTGACACTGATTTTAATTTTTAAAATATTTCATTAAAGTACTGTTTATCTTAATAACTATTTTGGCCCTTCCTTACATTTTGTGCCCAAGATAAGTGCGTGAGCTGTCTCCCTCTAGTCATTGCCTGAGATGGAGAGGGGAGATTTGAAGGAGGAAAGGAGTCTGGAGTTATGGGGAGGTGACAGAGGTGGGAGGCAGAGTAATGTTGGGAAGAGAAAGAAAGAGGAAAGAAGAGAGGCAGGGGTGGGGCCTGATTTGCCTTTACAGGCATGAGGCTAGGGTCCCCTCTTGTCTCCTGAGGCAGGTTTAGGCCCAGCATGTGTCCTTCAGGTGGTGGGCGGAGGCCTGGTATCCCACCCTGTAGCCTCACCTTTCAAGGGACAGAATGGAGCAGTTCTCAGCCTAGGCACCACTGACGGCCTCCAAGGTGTGGTCATGGCCAGTGGGTTGGTTTATATGCTTGAAGCCTTCCTGATGCTAGACTAACCCTGGGCACTCTGCAGCCCCAGCTGCTGGGTCGCTGGCTGAGGGGTGCTGCTGCTTCCAGGAAGCATGGAGGGAGACCTCCCTGGGCTAGCCTAGGCTGACATAGGCTGACCACCCCTCTCTCATTCCATATGCTTAAGCAGAGGTCACAGAGAGGACCCCAGCCTGGTCTCGTCATGTGTGTAATGCAGACTGTTGTGTTTCTGATAAGGGCCTGGCCTCTCCCAATGGAGCAGTAGATTGGGAGTGTGAAGGACTCAGGTGCCCCATTCCCACGGCTGGAGCCAAGACCAGAAGCCCATGTCAGGGTCCAAGTGGAGTGGTGTGGTGTGTGGGAGGGGGCCCTGTCTTGGCAGGACACAGCCCACATCTCAACTTCCTGATGGCTGCTCCCTCATCCCATCCAGAGGCAAGGCACTCATGAAGCCTCAAAGACAGGTTTGGAAAGTGTTTTCACAGAAGTGTTTTGTCTCCTCCTCCAGTGTGATCCTTACATCAAGATCTCCATAGGGAAGAAATCAGTGAGTGACCAGGATAACTACATCCCCTGCACGCTGGAGCCCGTATTTGGAAAGTAAATTGGGGCATCTTGGGTCTTGGGGTGGAGGAGCCAGACAGGATAACCCACAGTCTAGTGGGGGAGATGTGACTGGCACTGTGAAGTCCGTATCTCTTGGAGCAAAACTGTATTCCTTAAATCTTGCATGTCTATGGGGGCATAGCCTCAGTTAGCCCTTCTTTAGCTGCTAAAGACTTGATCCCAACAGAAGCTCCTAGTTAAATGCTAAACAATTACGTCTAAGATCAGAAATCTACATGGCTTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATAGCAAGACCCCATCTCTACAAAAAATAAAAAACTTAGCCAGGCATGGTAGTGCATGCCTGTGGTTCCAGATACTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTAGGAGTTTGAGCTTACAGTGATCTGTGATCAAACTACTGCACTCCAGCCTGGGTGACAGAGCAAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGTAGAAATCTGTGTGTAAGCTCAGAAGATGCATTTGCTAATTCTTTTTTTTTTTTAAGATAAACTTTTACTTTGGAATAATTTTAGATTTACTAAACAGTTACAGAGACAGTGCATAATTTCCACTTACTCAATTTCCCCCACTGGTAACCCCTTACTCAATTTCCCCCACTGGTATCATCTTACCTAACCATGGGACATTTGTCAAAATGAAGAAATCATCATTGGTGCATTACGTTTAACCAAACTAGACTTTTTTTTAAAGGATTTCATGTTTTCCCACTAATGTCCTCTTACTAATGTCTCAGGATCCAATCTGTTATACGACATTGCATTTAGTAATTAATTCTCTGTAAGTGTCCCACATGTGTTTGTAGCAAGAGCTAGAGGAAGAATGTAGACCCAAGATAGTAAAATGATTCCTGAAATCTGAGAACAAGGAAAGGAAGAATCAATGCCCATTGCATGGGAGTAATTCCTAGGCATCCTGAATTGCTGTTTGGATGTGAGCTTGTTTAGGCCAGAGAGGGGAGGATGCAGAGGGAGGGTGGCAGCTATTTCTCTCGCACCTGCAGAAGACACCTACTGTTCCGATGTCATCAAGTCACATATTGCACTTATAAACCGGGGTCTGTTGAGTTAGTTGTGGTCACTCACCCTGCAGTGAGGACCCAGTCTCCTTGGGGAAATGCAGCTTTTGAAGGTGAACCAGCCCTGGCCAGTGATGAGCTCCCACCAAGCAGGGATTGGAGGGAAGTGGTAGGTGGGAGAGAGGAACTCTGTATGAGTTCCAGGGGCTGGCGAGCTCCAGGGGCTGGCGCAGGACCTCAGGCTAATGCTGATGGGGCAGTGGGCAGGGCCTGTTCCACAGTGGGTGGGCGTGTGTCAGGACTCAGGGGAGATAGGGGAGCCAGTGCAGGAACACACCCCTCCCATGCCTGTTTCCCCATCTCCCCCCAATCCTGGGCAAGCTGGTCTGCCTGGTGCTTTAAGCCTCCTTCAGATCACAACAGAAACCCTTCCATTCTATAACCCATGTGTCAGACGAACACAACGCATGAGGTGGTTTTTGTCACCATGTATTCCATGGCGTTACCTTCTCCTTTCCCCTGAGGAAACTGACAGGCAGGTGACTTTTCTGCTCACATTGAGCTCAGCCACTTTAACTCACGAACCCAGTCTCAGGCCATAACCCACTGCCCATTTGTATGGAATCCCGAGCTCCCTGATGGCTCTAGGGGAGTGTGTCCCCTCTTTGGATGCAGTTGTGTGTGTATATGTGTGTATGTATGTGTGTGTATGTGTGTATATGTGCACATATGTGCGTGCGTGTGTATGTATTTGTGTGTATGTGTGTGTATATGTGTATGTGTGTCTGTGTTCGTGTGTCTGTGTGGTGTGTGTATATATGTGTGCATGTGTATTTGTGTGTATACATGTGTGTAGGTGTATGCGTCTGTGTGTGTCTGTGTGTCTGTGTGGCATGTGTGTATTTTGTGTGTATGTGTCTCTGTGTCCATGTGTCCGTGTATGTGTGTGGTGTGTGTAT
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GAAAGGCAGTTCTTACATGGTAGTGGCAAGAGAAAAGGAGGAGGAAGCAAAAGCAGAAACACCTGATAAACCCAACAGATCTCATGATACTTATTTACTATCACGAGAATAGCATGGGAAAGACTGGCCCCCATGATTCAATTATCTCCTCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTGGGTGGGGACACAGCCAAACCATATCAACAATGATGATAAAAATGAAAATTAACCCTTCCTTCTTTTCAGGGCCTCTTCAAAATTTATCCCCTCCCAGAAGACCCAGCCATCCCCATGCCCCCAAGACAGTTCCACCAGCTGGCCGCCCAGGGACCCCAGGAGTGCTTGGTCCGTATCTACATTGTCCGAGCATTTGGCCTGCAGCCCAAGGACCCCAATGGAAAGGTAACTTTCCTAGAGCCCTCACCTCCCCCAGAGTAGCAGGCTCAGGTACAAGTGGCCTATAGAACCTGGACACAAACTCTGCCTCAGGGAGTTCATAGTAGGTTGGGAAACAGACAAACACACAAAACTGAGAGGTGCCTGGATGGAGTTGTGTTAAGGACCAAGTGCTCTAGAAGGTCAGGGAAGGCCAGTGTCAGTACAGGACTTTGGGAAAATGGGGAAGGCTTCCTGGAAGGAATAGGACTCTTAGGATAGATGAGATTTTGATAGGCTGGGAGGGAGAAGAAAATAGTGTTTTAAGAGGGGCCAAAAGCATAGGCAAAGGTTTGAAAGAAAATTGCTTAATGTGTGTCTAGAACAAGAATAAAGCAGAAAGATAAGTAAGGCTGAGGGTATAGGTTGGGACTCTCAATGGTTAATGGGGAGGAGTGATGGGGGAAAGGAGCAGCGTTAGTGACTGCTATGCCTAGTCATGGCAGAGTCCCAGGTAAAAGGGAATGCTGGTAACACTCACCCGGTCTTTATTTAAAATTTTGATATTTTGTTCATCATGGACTATTGACACTGATTTTAATTTTTAAAATATTTCATTAAAGTACTGTTTATCTTAATAACTATTTTGGCCCTTCCTTACATTTTGTGCCCAAGATAAGTGCGTGAGCTGTCTCCCTCTAGTCATTGCCTGAGATGGAGAGGGGAGATTTGAAGGAGGAAAGGAGTCTGGAGTTATGGGGAGGTGACAGAGGTGGGAGGCAGAGTAATGTTGGGAAGAGAAAGAAAGAGGAAAGAAGAGAGGCAGGGGTGGGGCCTGATTTGCCTTTACAGGCATGAGGCTAGGGTCCCCTCTTGTCTCCTGAGGCAGGTTTAGGCCCAGCATGTGTCCTTCAGGTGGTGGGCGGAGGCCTGGTATCCCACCCTGTAGCCTCACCTTTCAAGGGACAGAATGGAGCAGTTCTCAGCCTAGGCACCACTGACGGCCTCCAAGGTGTGGTCATGGCCAGTGGGTTGGTTTATATGCTTGAAGCCTTCCTGATGCTAGACTAACCCTGGGCACTCTGCAGCCCCAGCTGCTGGGTCGCTGGCTGAGGGGTGCTGCTGCTTCCAGGAAGCATGGAGGGAGACCTCCCTGGGCTAGCCTAGGCTGACATAGGCTGACCACCCCTCTCTCATTCCATATGCTTAAGCAGAGGTCACAGAGAGGACCCCAGCCTGGTCTCGTCATGTGTGTAATGCAGACTGTTGTGTTTCTGATAAGGGCCTGGCCTCTCCCAATGGAGCAGTAGATTGGGAGTGTGAAGGACTCAGGTGCCCCATTCCCACGGCTGGAGCCAAGACCAGAAGCCCATGTCAGGGTCCAAGTGGAGTGGTGTGGTGTGTGGGAGGGGGCCCTGTCTTGGCAGGACACAGCCCACATCTCAACTTCCTGATGGCTGCTCCCTCATCCCATCCAGAGGCAAGGCACTCATGAAGCCTCAAAGACAGGTTTGGAAAGTGTTTTCACAGAAGTGTTTTGTCTCCTCCTCCAGTGTGATCCTTACATCAAGATCTCCATAGGGAAGAAATCAGTGAGTGACCAGGATAACTACATCCCCTGCACGCTGGAGCCCGTATTTGTAAAGTAAATTGGGGCATCTTGGGTCTTGGGGTGGAGGAGCCAGACAGGATAACCCACAGTCTAGTGGGGGAGATGTGACTGGCACTGTGAAGTCCGTATCTCTTGGAGCAAAACTGTATTCCTTAAATCTTGCATGTCTATGGGGGCATAGCCTCAGTTAGCCCTTCTTTAGCTGCTAAAGACTTGATCCCAACAGAAGCTCCTAGTTAAATGCTAAACAATTACGTCTAAGATCAGAAATCTACATGGCTTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATAGCAAGACCCCATCTCTACAAAAAATAAAAAACTTAGCCAGGCATGGTAGTGCATGCCTGTGGTTCCAGATACTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTAGGAGTTTGAGCTTACAGTGATCTGTGATCAAACTACTGCACTCCAGCCTGGGTGACAGAGCAAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGTAGAAATCTGTGTGTAAGCTCAGAAGATGCATTTGCTAATTCTTTTTTTTTTTTAAGATAAACTTTTACTTTGGAATAATTTTAGATTTACTAAACAGTTACAGAGACAGTGCATAATTTCCACTTACTCAATTTCCCCCACTGGTAACCCCTTACTCAATTTCCCCCACTGGTATCATCTTACCTAACCATGGGACATTTGTCAAAATGAAGAAATCATCATTGGTGCATTACGTTTAACCAAACTAGACTTTTTTTTAAAGGATTTCATGTTTTCCCACTAATGTCCTCTTACTAATGTCTCAGGATCCAATCTGTTATACGACATTGCATTTAGTAATTAATTCTCTGTAAGTGTCCCACATGTGTTTGTAGCAAGAGCTAGAGGAAGAATGTAGACCCAAGATAGTAAAATGATTCCTGAAATCTGAGAACAAGGAAAGGAAGAATCAATGCCCATTGCATGGGAGTAATTCCTAGGCATCCTGAATTGCTGTTTGGATGTGAGCTTGTTTAGGCCAGAGAGGGGAGGATGCAGAGGGAGGGTGGCAGCTATTTCTCTCGCACCTGCAGAAGACACCTACTGTTCCGATGTCATCAAGTCACATATTGCACTTATAAACCGGGGTCTGTTGAGTTAGTTGTGGTCACTCACCCTGCAGTGAGGACCCAGTCTCCTTGGGGAAATGCAGCTTTTGAAGGTGAACCAGCCCTGGCCAGTGATGAGCTCCCACCAAGCAGGGATTGGAGGGAAGTGGTAGGTGGGAGAGAGGAACTCTGTATGAGTTCCAGGGGCTGGCGAGCTCCAGGGGCTGGCGCAGGACCTCAGGCTAATGCTGATGGGGCAGTGGGCAGGGCCTGTTCCACAGTGGGTGGGCGTGTGTCAGGACTCAGGGGAGATAGGGGAGCCAGTGCAGGAACACACCCCTCCCATGCCTGTTTCCCCATCTCCCCCCAATCCTGGGCAAGCTGGTCTGCCTGGTGCTTTAAGCCTCCTTCAGATCACAACAGAAACCCTTCCATTCTATAACCCATGTGTCAGACGAACACAACGCATGAGGTGGTTTTTGTCACCATGTATTCCATGGCGTTACCTTCTCCTTTCCCCTGAGGAAACTGACAGGCAGGTGACTTTTCTGCTCACATTGAGCTCAGCCACTTTAACTCACGAACCCAGTCTCAGGCCATAACCCACTGCCCATTTGTATGGAATCCCGAGCTCCCTGATGGCTCTAGGGGAGTGTGTCCCCTCTTTGGATGCAGTTGTGTGTGTATATGTGTGTATGTATGTGTGTGTATGTGTGTATATGTGCACATATGTGCGTGCGTGTGTATGTATTTGTGTGTATGTGTGTGTATATGTGTATGTGTGTCTGTGTTCGTGTGTCTGTGTGGTGTGTGTATATATGTGTGCATGTGTATTTGTGTGTATACATGTGTGTAGGTGTATGCGTCTGTGTGTGTCTGTGTGTCTGTGTGGCATGTGTGTATTTTGTGTGTATGTGTCTCTGTGTCCATGTGTCCGTGTATGTGTGTGGTGTGTGTAT
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Task1_train_3718
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Chromosome 2 houses a mutation in gene DYSF (dysferlin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B
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CCATGGTGGGCTCTCGCTGTATCCCTCCCTCTCTCATCAGACCCTCTGCTACCATAAAAGACCCAAGCGGACATAACCCACAGCAGCAGGCTGTGGGTCTCTCCAGGGCAGCACAGATGGGCTCCACTTGCACTTGGTACTTTGAGGATCAGTACTGACCTGTGATGCCACTGTGAAAATTAGAGGTCAGGGCACAGCCAGGGTCAGAGTGCAGTCCAAGGCCAGGTTGGGGCCCATCCGAGGGCAAGATCAGAGGTGAGTCTGAAGCCAGTGTCAGGGTCAGAGTTAGGCTCAGTCTCTTTCTGGCATTGGCTGGTCTGACTCTGGTTGGAGTTTGGGGTACAGTCCACTTCTCAGAAACAGTTTTCTACTTGAATTGCACCAGCCTGGCAGCTTGACCCTGATGGTATCTTCCAAGCTCCCCACTGACAGCCCATGCATCTAAAGGATCCCAAGGCAGGCAGGCCTTGTAGTGCCCCCAGTCCTGCCCAGGGTCCTGCCCAGCTCTCCTGGCTGAGAATCCCGCCACATGCTCTCCGTGTGTCTGAGATGCCCGCAGGCCTGCATCACCCACTCAGAGCAGCTCAGACTCCCCAGAGGTGTTTACAGGCCCAGCTGGCCCCTTGCCTCCTGGTTGCTTCAGAGATGTTTGATGTCAGAGCTGGTGCCAAGGTTATAAAAGGGAAATGATGGCTTTGATGCCCCCATCCCCCACCCCCTCCTCCTTCTCATTCTGTTTTCCTGACTCTCCCAGGTCATGGCTGAGCCAGGCTCGGCCATAAGGCGCCCCCAGCCCTGCCCCCCTTCATTCCCTTTTCCCATAGAATGAGCATCTGTTTTCGGGGGAGTCTCATTTCCTTCTACTAGTCTGTGAGCAACTTTAGCACAGGGCCATGGCTCATGGTCATAAAGTCATAGGAAACAAAAGCCAGAAAGCTAGAGATGGTGAGGTCCAACATCTGCCTGCTTTTACAGATGAGGCTGGTAAGACCAAGAGTGGTGAACGACCTGCCCAACGTCACCCAACCAGCTAGGGGCAGAGCCAGGTTCCTGGCCCTGTGTGCCTTCTGAGGTGCATGCCTCTTCCTTTGAGGCCCCTACTGAAATGGGCAGGGCAGGTCTGATGGGTGAACACATGTGTGTGTACATATAGGTGTGCATGAGCACACCTGGGTACATGTACAGATGTGTGTGTCCACCATCAGCTCCCAAAGCCAAGGCCTTTGACATAGTGGGCTCCAAGTTCATGTTGTTGGATGGTTGGCCAGGCTTCTCTGGGTCAGGAATACCCCATGTCTTCTCCCCACCTGTAGCACCAGTTTTTGACCCATTCCCTAGCAGGGAGGAGCTGTACCTGGGACGCACCTGGGGACAGGCACCTAGGTTCATGCCTAGTCACGCACCTTTCCTAAGTGAGCATGTGATCTCAGCTGCTCTGCTGCTAGTTGTGTGGCTTCTCTGTGCCTCAGATTTCTCTTCTATAAAATGGGGATAATAACAGCACTCAGCTTCTAGGATCCTCATGAAGACTAAATATGTTAATAGCTTGAAGAACAGTGTGTGGCACGTGGTTCCTGCTCTGGAAGTGTTTGCTGTTATTGCTATTATTTTAGCTACTGCTAATAGTAGAACAACTTAAGTGAACGAGAGCATAATACTAACAGCACTAAGATGCCAAATCTAGGAGTAAAGGTTGCTGAGGCTTAGAGTTGGGAGCAGTCAGGGAGAGCTTCCTGGAAGAAGTAGGCTTTGGAGACAGGAGGATTTGTATGGTGGAAAATAGGAATAAAAACTATAGAACAGGCTTGGTAGAAATGATGGCAATGGGGAATCTGGATTTTAAGCCTGGAGCTAGTGGACAGCAAGATTTCCCCTATCAAAAGTGAGACATGAGGACCAGAAAAAGTGCATCTGTGCTGGGGGTGAGGCTGCGGGGGTTAGAGCTTCTTATGACTCTTAGGCAGCCCTGCTCAGCCTGTTCACTGGGCAGCCCCATTATCTCTCGCTTCCCCAGCTCCTGCAACTTTTTTGTCTTCTCTCTGGGGCAGAGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGTAGGACCTTGACCCTTGGGTCCCAGAGTCCTCGAACTCCAGAAAGCCCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTG
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CCATGGTGGGCTCTCGCTGTATCCCTCCCTCTCTCATCAGACCCTCTGCTACCATAAAAGACCCAAGCGGACATAACCCACAGCAGCAGGCTGTGGGTCTCTCCAGGGCAGCACAGATGGGCTCCACTTGCACTTGGTACTTTGAGGATCAGTACTGACCTGTGATGCCACTGTGAAAATTAGAGGTCAGGGCACAGCCAGGGTCAGAGTGCAGTCCAAGGCCAGGTTGGGGCCCATCCGAGGGCAAGATCAGAGGTGAGTCTGAAGCCAGTGTCAGGGTCAGAGTTAGGCTCAGTCTCTTTCTGGCATTGGCTGGTCTGACTCTGGTTGGAGTTTGGGGTACAGTCCACTTCTCAGAAACAGTTTTCTACTTGAATTGCACCAGCCTGGCAGCTTGACCCTGATGGTATCTTCCAAGCTCCCCACTGACAGCCCATGCATCTAAAGGATCCCAAGGCAGGCAGGCCTTGTAGTGCCCCCAGTCCTGCCCAGGGTCCTGCCCAGCTCTCCTGGCTGAGAATCCCGCCACATGCTCTCCGTGTGTCTGAGATGCCCGCAGGCCTGCATCACCCACTCAGAGCAGCTCAGACTCCCCAGAGGTGTTTACAGGCCCAGCTGGCCCCTTGCCTCCTGGTTGCTTCAGAGATGTTTGATGTCAGAGCTGGTGCCAAGGTTATAAAAGGGAAATGATGGCTTTGATGCCCCCATCCCCCACCCCCTCCTCCTTCTCATTCTGTTTTCCTGACTCTCCCAGGTCATGGCTGAGCCAGGCTCGGCCATAAGGCGCCCCCAGCCCTGCCCCCCTTCATTCCCTTTTCCCATAGAATGAGCATCTGTTTTCGGGGGAGTCTCATTTCCTTCTACTAGTCTGTGAGCAACTTTAGCACAGGGCCATGGCTCATGGTCATAAAGTCATAGGAAACAAAAGCCAGAAAGCTAGAGATGGTGAGGTCCAACATCTGCCTGCTTTTACAGATGAGGCTGGTAAGACCAAGAGTGGTGAACGACCTGCCCAACGTCACCCAACCAGCTAGGGGCAGAGCCAGGTTCCTGGCCCTGTGTGCCTTCTGAGGTGCATGCCTCTTCCTTTGAGGCCCCTACTGAAATGGGCAGGGCAGGTCTGATGGGTGAACACATGTGTGTGTACATATAGGTGTGCATGAGCACACCTGGGTACATGTACAGATGTGTGTGTCCACCATCAGCTCCCAAAGCCAAGGCCTTTGACATAGTGGGCTCCAAGTTCATGTTGTTGGATGGTTGGCCAGGCTTCTCTGGGTCAGGAATACCCCATGTCTTCTCCCCACCTGTAGCACCAGTTTTTGACCCATTCCCTAGCAGGGAGGAGCTGTACCTGGGACGCACCTGGGGACAGGCACCTAGGTTCATGCCTAGTCACGCACCTTTCCTAAGTGAGCATGTGATCTCAGCTGCTCTGCTGCTAGTTGTGTGGCTTCTCTGTGCCTCAGATTTCTCTTCTATAAAATGGGGATAATAACAGCACTCAGCTTCTAGGATCCTCATGAAGACTAAATATGTTAATAGCTTGAAGAACAGTGTGTGGCACGTGGTTCCTGCTCTGGAAGTGTTTGCTGTTATTGCTATTATTTTAGCTACTGCTAATAGTAGAACAACTTAAGTGAACGAGAGCATAATACTAACAGCACTAAGATGCCAAATCTAGGAGTAAAGGTTGCTGAGGCTTAGAGTTGGGAGCAGTCAGGGAGAGCTTCCTGGAAGAAGTAGGCTTTGGAGACAGGAGGATTTGTATGGTGGAAAATAGGAATAAAAACTATAGAACAGGCTTGGTAGAAATGATGGCAATGGGGAATCTGGATTTTAAGCCTGGAGCTAGTGGACAGCAAGATTTCCCCTATCAAAAGTGAGACATGAGGACCAGAAAAAGTGCATCTGTGCTGGGGGTGAGGCTGCGGGGGTTAGAGCTTCTTATGACTCTTAGGCAGCCCTGCTCAGCCTGTTCACTGGGCAGCCCCATTATCTCTCGCTTCCCCAGCTCCTGCAACTTTTTTGTCTTCTCTCTGGGGCAGGGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGTAGGACCTTGACCCTTGGGTCCCAGAGTCCTCGAACTCCAGAAAGCCCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTG
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Task1_train_3719
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This mutation occurs in DYSF (dysferlin) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B
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TCTGGATTTTAAGCCTGGAGCTAGTGGACAGCAAGATTTCCCCTATCAAAAGTGAGACATGAGGACCAGAAAAAGTGCATCTGTGCTGGGGGTGAGGCTGCGGGGGTTAGAGCTTCTTATGACTCTTAGGCAGCCCTGCTCAGCCTGTTCACTGGGCAGCCCCATTATCTCTCGCTTCCCCAGCTCCTGCAACTTTTTTGTCTTCTCTCTGGGGCAGAGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGTAGGACCTTGACCCTTGGGTCCCAGAGTCCTCGAACTCCAGAAAGCCCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAAC
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TCTGGATTTTAAGCCTGGAGCTAGTGGACAGCAAGATTTCCCCTATCAAAAGTGAGACATGAGGACCAGAAAAAGTGCATCTGTGCTGGGGGTGAGGCTGCGGGGGTTAGAGCTTCTTATGACTCTTAGGCAGCCCTGCTCAGCCTGTTCACTGGGCAGCCCCATTATCTCTCGCTTCCCCAGCTCCTGCAACTTTTTTGTCTTCTCTCTGGGGCAGAGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGTAGGACCTTGACCCTTGGGTCCCAGAGTCCTCGAACTCCAGAAAGCCCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGAGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAAC
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Task1_train_3720
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This sequence change occurs on Chromosome 2, altering DYSF (dysferlin). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Qualitative or quantitative defects of dysferlin
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CTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGG
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CTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTAAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGG
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Task1_train_3721
|
A sequence alteration has been identified in DYSF (dysferlin) on Chromosome 2. Is it disease-inducing or harmless?
|
Pathogenic; Qualitative or quantitative defects of dysferlin
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CTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGG
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CTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTGAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGG
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Task1_train_3722
|
Gene DYSF (dysferlin), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Qualitative or quantitative defects of dysferlin
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CAGTTAGCCACAGAGACTCTAAGCACGTGTGTGCGTCTGGGAGGTAAGGGCGTGTTTTGGGGATGAGGGAGAAGAGGATGAGGCCTCATGCCACTGGGGAGTGCTCACTTCCCTGGGGAGACATTGAAACCAGAGAGTAAGGAAAAGTACTGTGGATGATCAAATGCTCTTTTGGGAGGCTCAGGCCGTGGGAGTTTAGGAAGAGAAGAGCTGCTGCAGACCCTCGCCCTTGGTGTAGTCGGAGGACTAGCAGCAGTAGCACCAGGGAACTCACTAGAAACTCAGAGTCCCCGGCCGGCCCCGGCCTGCTGAGGGGGAATCTGCATGTAGGCACATGATGGTTGGAGAAACCCTGTTGGATGTGACAGAGCTCTGTCGCTGGAGTCAGGATTATGGACTCTTCCTGTGACCTTGGCAAATCCCTCCTGCTCACATGAGGAAGGGGCTGCACTAGGTTAGCTCTGGCCTTCTGTGGCTGGGACTGTGCTTAGGGGAGCACTGTCATCTTCCCTGGCTGCTGTATATTAAGCCAAGCCTCCTTCTGAAAAGCCAAGGGGAGGGGAAAGGCAGGTCCAAAGTGGCATCACCACCACCCATGACATGCCTAAGCCCAGCCCCTGCCAGCTGCACCCTGCACTGCTAGGCTACTGGGCAGCAGATCTAGGCCTCCAGGGGCCTGGGGAAGGAGGCCCTGCTGCCTGGCTGGGAGAGGAAGGAAAGATTTCCAGTCACTTCCAGCCTGTGGTCCTTCCTCATCGCTGTGGGCAGAAGCAGAGTGGTACTGTGGGGGGCCTGGTCAGAGCTCCTCCCTGTCTCCTGTCCCCCCAGCAGCGGGCCACTCTCCTTTGAGTTCTTCTGGAAGTTGTCCTCTTTAAAATATGGACCCTGCTTCCCCTCTCCCAGGGCTGGTGTGGGGATGTCAGATCCTAGGTAAGGGGTCTAGGGATGAAGGGGGTGGCCTGGGCCTGAGGCTGCAGACTGGCTTTGCTCACAGGTCTTTGCTACAAGCTGAGCACATCCTGCCTCCTTCCACCCAAGTCACTCATTCATTTGGCCAGTACCAGATGATGAGGGCCGGGCCCTGGTGACCCTCACCTGGCTTTCAGGCCATGGGACAGAGGCTGCCTGCCCCAAGCCAGGGCCTAGTGGAGAGGGGCCCAAGGACAGGGCAGCTTCCTCCAGTTGGCCTAATCCCCTACCCTCTTGGAAATTCCCTTGGGAGGGGTATGAGGGGGCAGCCTGTCTGATTCCTCTCAGCTTCCCCCTCAGAGCCAGCCGGGAGCAGGGCCAGCGTGGGGAGGCAGGAGGCGTTTGGCGGGGAAGGAGGGCCGGCTCTGTTTCCAGAGTTGGCTTTCCCCAGCCGGCGCTGGGGAACATACTGTCCCAATTAGGAGCCCTGTATTGTGTTGTATGTGTTTTCATGGTTTTTGGGGGGAGAAGTGGGGAGGGGAGGATACTGTCAATCCTGCAGCAGGCAGGGCTCAATCAAGGGTGCCCTGTCTCTAGTGCTGGGCTGTGCCGTGGGTCATCCACGACAGCCCATCCCCAACTCTCTCTCTGCTTTCTGGACAGGGGTGTGATGACCCGTAAGCCCTGGGCTGCCATGTGGGGGAGGACCCTGGGCCCCACCTTCAGCACCTGTCTGATGGAAGAGGCCAGGTCCAGGGTGCTCAGAGTCCTCTGGGCAGTCAGCTGGAACCTGGAAATGGGCCTGGCTTGATGGGGGAGAAGACAGAGCAATTTGGGCAGCTTTGGCCCCCAGGTGGGAGGGTGCGGGTGGAGTTTCGGAGGGTATGGGTTTGCCTGATGGGCTGGAGCACTAGGCAGGGCGGAGTGTTGAGCCCCACATGGTATGGATGGCAAGTGGTGAGGGCGAGGCGTGGGCAGGTGGTTGAAGAGCCACGAGCGTCCTCTCCCAGCCTCTTGCCTGTTGGCAGCTTAGCCCCATCCTCTGAGCCCCAGGTCTGGGACAGCTGCTCTGGCTGTGCCTGCCCCAGTGGGATCACCATGGGTCCCTGTCTCCTCCCTCCCTCCAGAACTATGCTGCCATGAAGCTGGTGAAGCCCTTCAGCTGAGGACTCTCCTGCCCTGTAGAAGGGGCCGTGGGGTCCCCTCCAGCATGGGACTGGCCTGCCTCCTCCGCCCAGCTCGGCGAGCTCCTCCAGACCTCCTAGGCCTGATTGTCCTGCCAGGGTGGGCAGACAGACAGATGGACCGGCCCACACTCCCAGAGTTGCTAACATGGAGCTCTGAGATCACCCCACTTCCATCATTTCCTTCTCCCCCAACCCAACGCTTTTTTGGATCAGCTCAGACATATTTCAGTATAAAACAGTTGGAACCACACAGCAGTGTCAGTGTGTGTATCTCTACAGTACCTGAACAGGGAGTGACTGTGAAGGGGGATATGCCTGGGTGGGCGGGGAGGGTGGACGGGGTATGGGTGCTGCTTCCAGCCCAGCCTTCTGGAGGGAGAGGCAGCTGAGAAGCAGTGGGTGGGGCCCGTGGAACTGCTTCTTCTTTCACAAGACTGGTTGGGGGTGGGGTGGGCTTGGGGCTTGGTGTCTGGTTTGCCTTAGCCCCGGCCTCCTCTGCCTCCTCTCCAATCCAGGACTTTCCCCTTTCCCCCTGCCTTCTCCTTACTCGGGCACCCCCCCCGTCTCCCAGGCTGCCCTTTGCCTAGGAGGGCAGCTACCTGTATCTTCTGGTTTCTTTGACCATGCTAGGGAAGAGGTTCCATTTTATAGAAAGGGAACTCCAGTGGGGAGGGTTCGGCCAGAAATCCCCTAGGCAGGGAGGCCACTGTACCTCTGGCTTTGGCCTATTCCCATAGAATCCTGGGATTTCTTGCGATTCTCTCTCTCTGCTTCCTCTCTCTGCTTTAAGAATCCGATCTGGACAAAGACACCTTTTTCTTGTGGTCTAAAGCTTAGTTGTAGCCATTGGTTTGACATTTCCTGCAGGAATCAGGCTTAATCTACAGAAGCAGCAGGAACATACTTGGAGAGAAAGCCAAGCGCTTGAAAACATCACGTTTCCAAGAGTCTCCTGCATCTCTCGCCTGAGGGGCTGAACTCTGTGAGCACAGAGCTGGCAGCCTCCACTCCCGTTACCCAGCGGGTGTCCCCGGTTTTCCACGGTGACCCTGCATCCTGGCCCAGTCCTCCTTGGCTCTTCACTGATTGGCAGGACTGGGGGTGGTTGGGACAGGGTTGATGTCTGGAACCTGCCTGGGTGAGGGAGCTACACCTTGAAAGCAGGGTGCTTCTTACTTCAGGAGAGCTTCAGGCTAGAGGTGGCTATGAGTCCTGAGACCCTGACACCTGAACCCTAGAGCCAGGGGCCACGCCGCACGTAGGACACAGCAGGGACTGGGGTCAGAGCTTTTCTGGGAAGGTCAGTCTGGTGCTGAGCCTTCACTGAGCACACTAAGCATGCCTGTGGGGAGGCAGTGAGAGGAGGCTGGCCTTTAGGGAGGGCTAGAGGGAGAGGAAGGAAGGGGTGGGGCCACCACTTCAGGAGGCCCCGAGCGAGATTTTTAGGAGAGGGAAAACCTGAGAATATTTGAAGGGAGGAAGGAGGAAGCCACTTGTTAGGGAAAGATCAAAGACACAAGAAAGAGTATGAGGTAATTCATGGAATCAGTTTCTGGAGAAGGAGAGGAGGGGGTTTGCTTTGGAAAGAAGGTCTGTTTTGTCTTCCAGGGCGGAAAGGCAAGAGGAAATGAATGAATACCATGCAACTATCAGCTGGATTAAAAGAGCTTTAGGGGTCATTGTGCTCATTTTTTCATTTCTTCCTTCACTTTATTCTTGATTCTCTGGGTTGCAGGTAATGGAAAACCCCACTCAAGCTACGAAAGGGAATTCAATGGCTTTACAGAAATGAAACACCCAGATGATTGGTTTCAGGTAAAGGCTGATCCAGCTCCTCAATGTGAGATCATTGAGAGTTTGTGTTCTCAAGGTTGGCTTCAGTTTAAAGCTGGCTCCATTCATCGTGCTGGGCTTGAAGCTGCTCTCTGAGACCACATAGACCACTAAGAAAAACTCAGAGGGGGATGAGGAATGGATGGCAAGGGGACACCATCCCCAGC
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CAGTTAGCCACAGAGACTCTAAGCACGTGTGTGCGTCTGGGAGGTAAGGGCGTGTTTTGGGGATGAGGGAGAAGAGGATGAGGCCTCATGCCACTGGGGAGTGCTCACTTCCCTGGGGAGACATTGAAACCAGAGAGTAAGGAAAAGTACTGTGGATGATCAAATGCTCTTTTGGGAGGCTCAGGCCGTGGGAGTTTAGGAAGAGAAGAGCTGCTGCAGACCCTCGCCCTTGGTGTAGTCGGAGGACTAGCAGCAGTAGCACCAGGGAACTCACTAGAAACTCAGAGTCCCCGGCCGGCCCCGGCCTGCTGAGGGGGAATCTGCATGTAGGCACATGATGGTTGGAGAAACCCTGTTGGATGTGACAGAGCTCTGTCGCTGGAGTCAGGATTATGGACTCTTCCTGTGACCTTGGCAAATCCCTCCTGCTCACATGAGGAAGGGGCTGCACTAGGTTAGCTCTGGCCTTCTGTGGCTGGGACTGTGCTTAGGGGAGCACTGTCATCTTCCCTGGCTGCTGTATATTAAGCCAAGCCTCCTTCTGAAAAGCCAAGGGGAGGGGAAAGGCAGGTCCAAAGTGGCATCACCACCACCCATGACATGCCTAAGCCCAGCCCCTGCCAGCTGCACCCTGCACTGCTAGGCTACTGGGCAGCAGATCTAGGCCTCCAGGGGCCTGGGGAAGGAGGCCCTGCTGCCTGGCTGGGAGAGGAAGGAAAGATTTCCAGTCACTTCCAGCCTGTGGTCCTTCCTCATCGCTGTGGGCAGAAGCAGAGTGGTACTGTGGGGGGCCTGGTCAGAGCTCCTCCCTGTCTCCTGTCCCCCCAGCAGCGGGCCACTCTCCTTTGAGTTCTTCTGGAAGTTGTCCTCTTTAAAATATGGACCCTGCTTCCCCTCTCCCAGGGCTGGTGTGGGGATGTCAGATCCTAGGTAAGGGGTCTAGGGATGAAGGGGGTGGCCTGGGCCTGAGGCTGCAGACTGGCTTTGCTCACAGGTCTTTGCTACAAGCTGAGCACATCCTGCCTCCTTCCACCCAAGTCACTCATTCATTTGGCCAGTACCAGATGATGAGGGCCGGGCCCTGGTGACCCTCACCTGGCTTTCAGGCCATGGGACAGAGGCTGCCTGCCCCAAGCCAGGGCCTAGTGGAGAGGGGCCCAAGGACAGGGCAGCTTCCTCCAGTTGGCCTAATCCCCTACCCTCTTGGAAATTCCCTTGGGAGGGGTATGAGGGGGCAGCCTGTCTGATTCCTCTCAGCTTCCCCCTCAGAGCCAGCCGGGAGCAGGGCCAGCGTGGGGAGGCAGGAGGCGTTTGGCGGGGAAGGAGGGCCGGCTCTGTTTCCAGAGTTGGCTTTCCCCAGCCGGCGCTGGGGAACATACTGTCCCAATTAGGAGCCCTGTATTGTGTTGTATGTGTTTTCATGGTTTTTGGGGGGAGAAGTGGGGAGGGGAGGATACTGTCAATCCTGCAGCAGGCAGGGCTCAATCAAGGGTGCCCTGTCTCTAGTGCTGGGCTGTGCCGTGGGTCATCCACGACAGCCCATCCCCAACTCTCTCTCTGCTTTCTGGACAGGGGTGTGATGACCCGTAAGCCCTGGGCTGCCATGTGGGGGAGGACCCTGGGCCCCACCTTCAGCACCTGTCTGATGGAAGAGGCCAGGTCCAGGGTGCTCAGAGTCCTCTGGGCAGTCAGCTGGAACCTGGAAATGGGCCTGGCTTGATGGGGGAGAAGACAGAGCAATTTGGGCAGCTTTGGCCCCCAGGTGGGAGGGTGCGGGTGGAGTTTCGGAGGGTATGGGTTTGCCTGATGGGCTGGAGCACTAGGCAGGGCGGAGTGTTGAGCCCCACATGGTATGGATGGCAAGTGGTGAGGGCGAGGCGTGGGCAGGTGGTTGAAGAGCCACGAGCGTCCTCTCCCAGCCTCTTGCCTGTTGGCAGCTTAGCCCCATCCTCTGAGCCCCAGGTCTGGGACAGCTGCTCTGGCTGTGCCTGCCCCAGTGGGATCACCATGGGTCCCTGTCTCCTCCCTCCCTCCAGAACTATGCTGCCGTGAAGCTGGTGAAGCCCTTCAGCTGAGGACTCTCCTGCCCTGTAGAAGGGGCCGTGGGGTCCCCTCCAGCATGGGACTGGCCTGCCTCCTCCGCCCAGCTCGGCGAGCTCCTCCAGACCTCCTAGGCCTGATTGTCCTGCCAGGGTGGGCAGACAGACAGATGGACCGGCCCACACTCCCAGAGTTGCTAACATGGAGCTCTGAGATCACCCCACTTCCATCATTTCCTTCTCCCCCAACCCAACGCTTTTTTGGATCAGCTCAGACATATTTCAGTATAAAACAGTTGGAACCACACAGCAGTGTCAGTGTGTGTATCTCTACAGTACCTGAACAGGGAGTGACTGTGAAGGGGGATATGCCTGGGTGGGCGGGGAGGGTGGACGGGGTATGGGTGCTGCTTCCAGCCCAGCCTTCTGGAGGGAGAGGCAGCTGAGAAGCAGTGGGTGGGGCCCGTGGAACTGCTTCTTCTTTCACAAGACTGGTTGGGGGTGGGGTGGGCTTGGGGCTTGGTGTCTGGTTTGCCTTAGCCCCGGCCTCCTCTGCCTCCTCTCCAATCCAGGACTTTCCCCTTTCCCCCTGCCTTCTCCTTACTCGGGCACCCCCCCCGTCTCCCAGGCTGCCCTTTGCCTAGGAGGGCAGCTACCTGTATCTTCTGGTTTCTTTGACCATGCTAGGGAAGAGGTTCCATTTTATAGAAAGGGAACTCCAGTGGGGAGGGTTCGGCCAGAAATCCCCTAGGCAGGGAGGCCACTGTACCTCTGGCTTTGGCCTATTCCCATAGAATCCTGGGATTTCTTGCGATTCTCTCTCTCTGCTTCCTCTCTCTGCTTTAAGAATCCGATCTGGACAAAGACACCTTTTTCTTGTGGTCTAAAGCTTAGTTGTAGCCATTGGTTTGACATTTCCTGCAGGAATCAGGCTTAATCTACAGAAGCAGCAGGAACATACTTGGAGAGAAAGCCAAGCGCTTGAAAACATCACGTTTCCAAGAGTCTCCTGCATCTCTCGCCTGAGGGGCTGAACTCTGTGAGCACAGAGCTGGCAGCCTCCACTCCCGTTACCCAGCGGGTGTCCCCGGTTTTCCACGGTGACCCTGCATCCTGGCCCAGTCCTCCTTGGCTCTTCACTGATTGGCAGGACTGGGGGTGGTTGGGACAGGGTTGATGTCTGGAACCTGCCTGGGTGAGGGAGCTACACCTTGAAAGCAGGGTGCTTCTTACTTCAGGAGAGCTTCAGGCTAGAGGTGGCTATGAGTCCTGAGACCCTGACACCTGAACCCTAGAGCCAGGGGCCACGCCGCACGTAGGACACAGCAGGGACTGGGGTCAGAGCTTTTCTGGGAAGGTCAGTCTGGTGCTGAGCCTTCACTGAGCACACTAAGCATGCCTGTGGGGAGGCAGTGAGAGGAGGCTGGCCTTTAGGGAGGGCTAGAGGGAGAGGAAGGAAGGGGTGGGGCCACCACTTCAGGAGGCCCCGAGCGAGATTTTTAGGAGAGGGAAAACCTGAGAATATTTGAAGGGAGGAAGGAGGAAGCCACTTGTTAGGGAAAGATCAAAGACACAAGAAAGAGTATGAGGTAATTCATGGAATCAGTTTCTGGAGAAGGAGAGGAGGGGGTTTGCTTTGGAAAGAAGGTCTGTTTTGTCTTCCAGGGCGGAAAGGCAAGAGGAAATGAATGAATACCATGCAACTATCAGCTGGATTAAAAGAGCTTTAGGGGTCATTGTGCTCATTTTTTCATTTCTTCCTTCACTTTATTCTTGATTCTCTGGGTTGCAGGTAATGGAAAACCCCACTCAAGCTACGAAAGGGAATTCAATGGCTTTACAGAAATGAAACACCCAGATGATTGGTTTCAGGTAAAGGCTGATCCAGCTCCTCAATGTGAGATCATTGAGAGTTTGTGTTCTCAAGGTTGGCTTCAGTTTAAAGCTGGCTCCATTCATCGTGCTGGGCTTGAAGCTGCTCTCTGAGACCACATAGACCACTAAGAAAAACTCAGAGGGGGATGAGGAATGGATGGCAAGGGGACACCATCCCCAGC
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Task1_train_3723
|
With a mutation on Chromosome 2 in gene CYP26B1 (cytochrome P450 family 26 subfamily B member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Lethal occipital encephalocele-skeletal dysplasia syndrome
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AAGACGGAGGCCCTTGCTCCCCGTCAGAAGAACCCGTATCCTTCCCCATACTCACGCCTGGAGTCAGGGCCAGTGCACTGGGGTGAACAGGGGCCAAACAGGAAATCGTGGCCGCCTCCAAATCTACCTGATCAGGGTTTTTGACAGGAGAGGGAGGAGGCAATGGGCCACATTCCATCTCCACCAGGGATAAGGCAGAGGCACCGGACTTCAGTCCAGGAGTGAGGCTCCGAGATTAAACCCAAATAATGCCCGGAGCCGGGGAAGGCTTTCAACCCTAGGCCCTGGGGGCTGGGTTTGACCAGAGACCCCTTCCTCTTCACTCACAGAAGTCTCGCCAGGACAGCTAGAACACAGGCTAGGGCATGAAGGGGAGGAGATGTTCACTCCAGACCCCAGCATCCCCAAGATTCTCTATCAGTGAATAAATATGGGGGCGGGCAGCACATGAGCCGCGGGCCTTAGGCGGCTGTGTGTAACAGGGCCTGGTTCAGCAGGGGATGGGAAGGTGGGGGTGTCAGTGCACCTGCCCAGGGCCACCAGGGAGGATGCTGGGGAGACAGGGCCTGGGGCTCCTTTGCCCCAAGGTCAGAGGACAGAACAAGTAGCAGCAATAGGTAATTTCAAATTGTCCAAACTGGTGAGGGAGGGTGGGAACCGTGGCATAGGGAAGGGCAATCTCCAGGTTGGACGCAGCCCCCGCCCCGCCAAGGTTGACTCCTGTTCTGCTACCCAGGATGCTGTTCCTGGGCAGACGCAGTGGGGGCGCAGGAGGAGGAGACGCTGAAGAGTGCGCCCAAGGGGGCACGGCTCTTCCCGTCCCCCAACCCCAGCTAAAAGGGTCCGAAAGGAACGGAGGGAAGGGAGCAGTTCAGAACATCACAAAAACACTGTAGCACGCGCTGACACCTAACACTGTCACGGGCATGCAGAGCCCCTGCCACGCCCTTCCCAGGGGCTGAGCTGATGGTAAATGGGGAGTGGCTGGAGGGAAGCTGGAGCCAGAAGGGGAGCCCAGCCCTAGGAATGGGGCCCACTGGCTTTGGGTAGGGTTTGCCAGGGAGGGGGAGCAAGGGAGGGCAAGTATGGGGGCCACTCGCCCTCCCCGTTCCGGCCCCCTCCCACACACAGGTTTCTACCTCCCACAACCACCACCCCGCTGCCTGGGCTGGGCTGAGGCGGGTGGGTCTTGGGTTAGACTGTGGCGCTCAGCATGGCCTCCGTCTCCGGCAGGATCTCGTTCTGGTTGGAGTCCAGGCCAAAGAACTTGACGCTGAGGCCATCCACGGGGTGCAGGACGGGGACCAAGGTGATGCGGGGGAAGGTCCGTGTGGCCAGCTCAAAGCGGCTGGTGCTAGCCAGCTCCACCGCCAGCACCTTCAGGAACAGCTTGGCCAGGTGCTTGCCCAGGCAGGTCCGGACACCGCCACCGAACGGGAGGTAATGGAAGCGGCCATCCTTGTCCTCGCTCCGCGCCTGGCTGAAGCGATCGGGGTCGAACACGTTCACGTCTTTGAACACGGGCGCTGTGTCATGGGTGTCCCGGATGCTATACATGACACTCCAGCCTTTGGGGATCTGGAAACCCTGGAGCAAGATGGGGGCCGAGGAGTGGGTGGTGAGAGCCAGAGGAGCCCACAGAGGGCCCAGGACTGCCCCCTCCCTGCTCAGCCCCAGATGTTCAAGACCTGCCTTTTCTTAGAGACACCCCACTGTGGCCCCCAAGGCCTGGCCAGCCTGCCCCATTCAGCATGTTAGTCCAAGCCCTTATCTGTAGATGTGCACATGTGACTTCACATATGACACCCAACTTGGCTTCACCTGATGCATTTGGGGCGCACTTCTCCCATCGGACTGAAAGCTCCCTGAAAGCAAGCACTGTTTCCCCATCAGGCCTGAAGTCCCTGAAATGGAGGCTGGTGCCCCGCCTTGCCCCTATCCCGGTGCCCCTGCTCCCCCATCGCCCCCGGTGCCACGGGCCCAGCCTCACATCAAGCTCGAAGGTCTGCAGCACAGTGCGGTAGCCGCCGGAAATGGGCGTGAACAGGCGCATGACCTCCTTGATGACGCAGTCCAGGTAGCGCAGCCCACTGAGCGTGTCCAGGCGCAGTGTGCCCTCGCAGGGGCAGCCGCCACTGTGCAGGATGCCATGAGCCCGCAGCTCATCCCGCAGCTTCTCCAGCACAGTGGGGTGCTTCAGCAGCTGCATGATGAGTGAGGTGCTGGCGCTGGCCGTGGTGGCATAGGCCGCAAAGATCAGCTCCAGGGTCCCGTCCTGCAGGGCACAGAGGAGAGGTGTTGTTGGAGGTGTGGGTTCAGCCAGGCAGGGGCCGCCCCATTCAGTCAGTGGCCCGTGTGCCCAGGTCATCTGTGCTGGGCCCTGCCTGGTTCCTGCAGTGAATTCTGCTTCCTCTGAGCTTCATGTTGCCGGGGCATTAGTGTCACGATGGACACGGGGGTCACAGCCAGTCCCTAGCTGGGCAGAAGACACAACTGCTGTGACCGAGGGCAGAAGCACTGGCCTAGAGTCCCTTGGAGTGGAGCCACTTCTCACTCACTGCTGGGTTCCTGGGCCAGCCCCACAGGCCTGATATGCAGTGGGCTCACAGGAGAAAAAGAACAAATCCCAAGGAGCCAGGCCCTGCGCAGCAGGTGTGCGTGTGTATGTGTGGGGGATGTGAGTCTAAACCCGGGCCTTCCCACTCCCAGTGCCAGCCCCTTCCTCCATCGCAGGAGGAGGACATTCAGTGGGTGATCAGGGGAGCCAATGGGGTCTGGGAGGGAGCCTGGGGCCACTCCCCTGGAGACCTGGGATGAGGCTGAGGGAAGGCGACCCCCAGAGGACCTAAAGACCCCGCCAGGGCTTTCTGGGGAGCAGGACACCAGGGCCATGGGTTCCCCACAGAAAGGCCCCAGCAGGCTATCTCATAGCACACCCTGCATTTTACAAATGTGGACTCTGGGCCCAGAGAGGGCAATGAAGGGACCTGGGTCCATTACTGGCCATGGCAACATCCATAAATCACAAAGCTTCTTGTAGTGGAAAAGCCACTCCAGCTCTTCCTAGCTCCCCAGGAAAGAAGTTGGAGCTAGAATATGGGGAGGCAAAGATAGTGGGCAGGGGAGGCTGCAGTGAGTGTCCATGGGCACCCAGCAGTGGAGCAGGCCTGCAGAGCCCAGGTGGGGATGGGCGAGTGAGCCCTCCTCGGGTGAAACATCCGCCTAAAGCAGGGCAAGCAGGTCCTGCGTGGAGCACAGCCGGGATCCCCAGGGGCCTAGGGGGCGGGGGGGAGGGTGGGAGGGCATGCAAGGCGCCAGCAACCTGAAAAGGCTGGGGGTGGGGGAGGATACCTCACATCCAAATCTCCCCTGCTCTTCCCCAAGGGCTGAGGCTGGTGACAAGCAAGTGGTTTCCCCTTGTGGGCCTGCCTTTCCCTAGATGGCCTTCCAGGGATATTGGGACTAGGAAATGAACTGAGATCATTCCCAGGCCTGAGCTCCCTGCAGGCCATGGGGAGAGAAGGGAGGGTGCCCCACGGCATCCTGCACAGCAGGGGTGGGGACACAGACTTCGCTTCCAGTTTCAAGGTCTCCAGCCACTGCTCAGAAAGCATGTGTGGGGCCAGACTACAGGGGGTAGAAATGGCTGGGCACATTTCCACCCAGGGAAAGCTCAGAATGGAGCCTGGGTGCTGGTGCTGCCCGTGAGGGGCACACGCCCACCCCACCTTCAGCTCCTGCATGGTCATCTCCTTCCCGTGCTCCTTGCTGCTCTCAATGAGGAGGTCCAGGGCGTCCAAGTAGTCCTTGCCCTGTGTGCACTGCAGCTTCTCCCGGATGGCCTTCTCCAGCCCCTTCTGCAGGATCTGCCGAGCCTGAATGCCCTGCAGAGGTGAGGGCTGTCACTCATATGGAAGGGCAGGCTCCCATCTGAGCCTCGGGACCACCAGGGACGACTCCAGCCTCCTCCTACCCCACGCTGACACCTCTCCCCTTTGTCCATGTGCCCTGTGCCTAGGTGCCCATCTCAGGGGTCAGGTCAGCCACCCACCCCCAGAGAGGGGGCTCATGGATGCCCCTGCTCCTCTCCTCCCAG
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AAGACGGAGGCCCTTGCTCCCCGTCAGAAGAACCCGTATCCTTCCCCATACTCACGCCTGGAGTCAGGGCCAGTGCACTGGGGTGAACAGGGGCCAAACAGGAAATCGTGGCCGCCTCCAAATCTACCTGATCAGGGTTTTTGACAGGAGAGGGAGGAGGCAATGGGCCACATTCCATCTCCACCAGGGATAAGGCAGAGGCACCGGACTTCAGTCCAGGAGTGAGGCTCCGAGATTAAACCCAAATAATGCCCGGAGCCGGGGAAGGCTTTCAACCCTAGGCCCTGGGGGCTGGGTTTGACCAGAGACCCCTTCCTCTTCACTCACAGAAGTCTCGCCAGGACAGCTAGAACACAGGCTAGGGCATGAAGGGGAGGAGATGTTCACTCCAGACCCCAGCATCCCCAAGATTCTCTATCAGTGAATAAATATGGGGGCGGGCAGCACATGAGCCGCGGGCCTTAGGCGGCTGTGTGTAACAGGGCCTGGTTCAGCAGGGGATGGGAAGGTGGGGGTGTCAGTGCACCTGCCCAGGGCCACCAGGGAGGATGCTGGGGAGACAGGGCCTGGGGCTCCTTTGCCCCAAGGTCAGAGGACAGAACAAGTAGCAGCAATAGGTAATTTCAAATTGTCCAAACTGGTGAGGGAGGGTGGGAACCGTGGCATAGGGAAGGGCAATCTCCAGGTTGGACGCAGCCCCCGCCCCGCCAAGGTTGACTCCTGTTCTGCTACCCAGGATGCTGTTCCTGGGCAGACGCAGTGGGGGCGCAGGAGGAGGAGACGCTGAAGAGTGCGCCCAAGGGGGCACGGCTCTTCCCGTCCCCCAACCCCAGCTAAAAGGGTCCGAAAGGAACGGAGGGAAGGGAGCAGTTCAGAACATCACAAAAACACTGTAGCACGCGCTGACACCTAACACTGTCACGGGCATGCAGAGCCCCTGCCACGCCCTTCCCAGGGGCTGAGCTGATGGTAAATGGGGAGTGGCTGGAGGGAAGCTGGAGCCAGAAGGGGAGCCCAGCCCTAGGAATGGGGCCCACTGGCTTTGGGTAGGGTTTGCCAGGGAGGGGGAGCAAGGGAGGGCAAGTATGGGGGCCACTCGCCCTCCCCGTTCCGGCCCCCTCCCACACACAGGTTTCTACCTCCCACAACCACCACCCCGCTGCCTGGGCTGGGCTGAGGCGGGTGGGTCTTGGGTTAGACTGTGGCGCTCAGCATGGCCTCCGTCTCCGGCAGGATCTCGTTCTGGTTGGAGTCCAGGCCAAAGAACTTGACGCTGAGGCCATCCACGGGGTGCAGGACGGGGACCAAGGTGATGCGGGGGAAGGTCCGTGTGGCCAGCTCAAAGCGGCTGGTGCTAGCCAGCTCCACCGCCAGCACCTTCAGGAACAGCTTGGCCAGGTGCTTGCCCAGGCAGGTCCGGACACCGCCACCGAACGGGAGGTAATGGAAGCGGCCATCCTTGTCCTCGCTCCGCGCCTGGCTGAAGCGATCGGGGTCGAACACGTTCACGTCTTTGAACACGGGCGCTGTGTCATGGGTGTCCCGGATGCTATACATGACACTCCAGCCTTTGGGGATCTGGAAACCCTGGAGCAAGATGGGGGCCGAGGAGTGGGTGGTGAGAGCCAGAGGAGCCCACAGAGGGCCCAGGACTGCCCCCTCCCTGCTCAGCCCCAGATGTTCAAGACCTGCCTTTTCTTAGAGACACCCCACTGTGGCCCCCAAGGCCTGGCCAGCCTGCCCCATTCAGCATGTTAGTCCAAGCCCTTATCTGTAGATGTGCACATGTGACTTCACATATGACACCCAACTTGGCTTCACCTGATGCATTTGGGGCGCACTTCTCCCATCGGACTGAAAGCTCCCTGAAAGCAAGCACTGTTTCCCCATCAGGCCTGAAGTCCCTGAAATGGAGGCTGGTGCCCCGCCTTGCCCCTATCCCGGTGCCCCTGCTCCCCCATCGCCCCCGGTGCCACGGGCCCAGCCTCACATCAAGCTCGAAGGTCTGCAGCACAGTGCGGTAGCCGCCGGAAATGGGCGTGAACAGGAGCATGACCTCCTTGATGACGCAGTCCAGGTAGCGCAGCCCACTGAGCGTGTCCAGGCGCAGTGTGCCCTCGCAGGGGCAGCCGCCACTGTGCAGGATGCCATGAGCCCGCAGCTCATCCCGCAGCTTCTCCAGCACAGTGGGGTGCTTCAGCAGCTGCATGATGAGTGAGGTGCTGGCGCTGGCCGTGGTGGCATAGGCCGCAAAGATCAGCTCCAGGGTCCCGTCCTGCAGGGCACAGAGGAGAGGTGTTGTTGGAGGTGTGGGTTCAGCCAGGCAGGGGCCGCCCCATTCAGTCAGTGGCCCGTGTGCCCAGGTCATCTGTGCTGGGCCCTGCCTGGTTCCTGCAGTGAATTCTGCTTCCTCTGAGCTTCATGTTGCCGGGGCATTAGTGTCACGATGGACACGGGGGTCACAGCCAGTCCCTAGCTGGGCAGAAGACACAACTGCTGTGACCGAGGGCAGAAGCACTGGCCTAGAGTCCCTTGGAGTGGAGCCACTTCTCACTCACTGCTGGGTTCCTGGGCCAGCCCCACAGGCCTGATATGCAGTGGGCTCACAGGAGAAAAAGAACAAATCCCAAGGAGCCAGGCCCTGCGCAGCAGGTGTGCGTGTGTATGTGTGGGGGATGTGAGTCTAAACCCGGGCCTTCCCACTCCCAGTGCCAGCCCCTTCCTCCATCGCAGGAGGAGGACATTCAGTGGGTGATCAGGGGAGCCAATGGGGTCTGGGAGGGAGCCTGGGGCCACTCCCCTGGAGACCTGGGATGAGGCTGAGGGAAGGCGACCCCCAGAGGACCTAAAGACCCCGCCAGGGCTTTCTGGGGAGCAGGACACCAGGGCCATGGGTTCCCCACAGAAAGGCCCCAGCAGGCTATCTCATAGCACACCCTGCATTTTACAAATGTGGACTCTGGGCCCAGAGAGGGCAATGAAGGGACCTGGGTCCATTACTGGCCATGGCAACATCCATAAATCACAAAGCTTCTTGTAGTGGAAAAGCCACTCCAGCTCTTCCTAGCTCCCCAGGAAAGAAGTTGGAGCTAGAATATGGGGAGGCAAAGATAGTGGGCAGGGGAGGCTGCAGTGAGTGTCCATGGGCACCCAGCAGTGGAGCAGGCCTGCAGAGCCCAGGTGGGGATGGGCGAGTGAGCCCTCCTCGGGTGAAACATCCGCCTAAAGCAGGGCAAGCAGGTCCTGCGTGGAGCACAGCCGGGATCCCCAGGGGCCTAGGGGGCGGGGGGGAGGGTGGGAGGGCATGCAAGGCGCCAGCAACCTGAAAAGGCTGGGGGTGGGGGAGGATACCTCACATCCAAATCTCCCCTGCTCTTCCCCAAGGGCTGAGGCTGGTGACAAGCAAGTGGTTTCCCCTTGTGGGCCTGCCTTTCCCTAGATGGCCTTCCAGGGATATTGGGACTAGGAAATGAACTGAGATCATTCCCAGGCCTGAGCTCCCTGCAGGCCATGGGGAGAGAAGGGAGGGTGCCCCACGGCATCCTGCACAGCAGGGGTGGGGACACAGACTTCGCTTCCAGTTTCAAGGTCTCCAGCCACTGCTCAGAAAGCATGTGTGGGGCCAGACTACAGGGGGTAGAAATGGCTGGGCACATTTCCACCCAGGGAAAGCTCAGAATGGAGCCTGGGTGCTGGTGCTGCCCGTGAGGGGCACACGCCCACCCCACCTTCAGCTCCTGCATGGTCATCTCCTTCCCGTGCTCCTTGCTGCTCTCAATGAGGAGGTCCAGGGCGTCCAAGTAGTCCTTGCCCTGTGTGCACTGCAGCTTCTCCCGGATGGCCTTCTCCAGCCCCTTCTGCAGGATCTGCCGAGCCTGAATGCCCTGCAGAGGTGAGGGCTGTCACTCATATGGAAGGGCAGGCTCCCATCTGAGCCTCGGGACCACCAGGGACGACTCCAGCCTCCTCCTACCCCACGCTGACACCTCTCCCCTTTGTCCATGTGCCCTGTGCCTAGGTGCCCATCTCAGGGGTCAGGTCAGCCACCCACCCCCAGAGAGGGGGCTCATGGATGCCCCTGCTCCTCTCCTCCCAG
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Task1_train_3724
|
With a mutation on Chromosome 2 in gene CYP26B1 (cytochrome P450 family 26 subfamily B member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Lethal occipital encephalocele-skeletal dysplasia syndrome
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GCCCCATTCAGTCAGTGGCCCGTGTGCCCAGGTCATCTGTGCTGGGCCCTGCCTGGTTCCTGCAGTGAATTCTGCTTCCTCTGAGCTTCATGTTGCCGGGGCATTAGTGTCACGATGGACACGGGGGTCACAGCCAGTCCCTAGCTGGGCAGAAGACACAACTGCTGTGACCGAGGGCAGAAGCACTGGCCTAGAGTCCCTTGGAGTGGAGCCACTTCTCACTCACTGCTGGGTTCCTGGGCCAGCCCCACAGGCCTGATATGCAGTGGGCTCACAGGAGAAAAAGAACAAATCCCAAGGAGCCAGGCCCTGCGCAGCAGGTGTGCGTGTGTATGTGTGGGGGATGTGAGTCTAAACCCGGGCCTTCCCACTCCCAGTGCCAGCCCCTTCCTCCATCGCAGGAGGAGGACATTCAGTGGGTGATCAGGGGAGCCAATGGGGTCTGGGAGGGAGCCTGGGGCCACTCCCCTGGAGACCTGGGATGAGGCTGAGGGAAGGCGACCCCCAGAGGACCTAAAGACCCCGCCAGGGCTTTCTGGGGAGCAGGACACCAGGGCCATGGGTTCCCCACAGAAAGGCCCCAGCAGGCTATCTCATAGCACACCCTGCATTTTACAAATGTGGACTCTGGGCCCAGAGAGGGCAATGAAGGGACCTGGGTCCATTACTGGCCATGGCAACATCCATAAATCACAAAGCTTCTTGTAGTGGAAAAGCCACTCCAGCTCTTCCTAGCTCCCCAGGAAAGAAGTTGGAGCTAGAATATGGGGAGGCAAAGATAGTGGGCAGGGGAGGCTGCAGTGAGTGTCCATGGGCACCCAGCAGTGGAGCAGGCCTGCAGAGCCCAGGTGGGGATGGGCGAGTGAGCCCTCCTCGGGTGAAACATCCGCCTAAAGCAGGGCAAGCAGGTCCTGCGTGGAGCACAGCCGGGATCCCCAGGGGCCTAGGGGGCGGGGGGGAGGGTGGGAGGGCATGCAAGGCGCCAGCAACCTGAAAAGGCTGGGGGTGGGGGAGGATACCTCACATCCAAATCTCCCCTGCTCTTCCCCAAGGGCTGAGGCTGGTGACAAGCAAGTGGTTTCCCCTTGTGGGCCTGCCTTTCCCTAGATGGCCTTCCAGGGATATTGGGACTAGGAAATGAACTGAGATCATTCCCAGGCCTGAGCTCCCTGCAGGCCATGGGGAGAGAAGGGAGGGTGCCCCACGGCATCCTGCACAGCAGGGGTGGGGACACAGACTTCGCTTCCAGTTTCAAGGTCTCCAGCCACTGCTCAGAAAGCATGTGTGGGGCCAGACTACAGGGGGTAGAAATGGCTGGGCACATTTCCACCCAGGGAAAGCTCAGAATGGAGCCTGGGTGCTGGTGCTGCCCGTGAGGGGCACACGCCCACCCCACCTTCAGCTCCTGCATGGTCATCTCCTTCCCGTGCTCCTTGCTGCTCTCAATGAGGAGGTCCAGGGCGTCCAAGTAGTCCTTGCCCTGTGTGCACTGCAGCTTCTCCCGGATGGCCTTCTCCAGCCCCTTCTGCAGGATCTGCCGAGCCTGAATGCCCTGCAGAGGTGAGGGCTGTCACTCATATGGAAGGGCAGGCTCCCATCTGAGCCTCGGGACCACCAGGGACGACTCCAGCCTCCTCCTACCCCACGCTGACACCTCTCCCCTTTGTCCATGTGCCCTGTGCCTAGGTGCCCATCTCAGGGGTCAGGTCAGCCACCCACCCCCAGAGAGGGGGCTCATGGATGCCCCTGCTCCTCTCCTCCCAGGCCCTGGGTGCTCACCCGCCGGTAGCCACTGAAGGGCAGGTCGACAGGCAGGGAGAAGACATTGTCCACAAACTGCTGGTAGACCTCAAAGAGGTGCCCAAGGTCCTCCTCAGGGATGCTGAAGCCCAGCAGCACCCGGATGGCCATGCGGAAGGTCAGCTTCTGCGCCTCCTGGTACACGTTGATGGCCTCGGGGTGGCTGCTCCAGGCGCGCAGTGTGTCCTGGATCACCAGCTGGATCTTGGGCAGGTAACTCTCCAGGGCCTCGTGGCTGAAGATCTTGGAGAAGACCTGGAAGGCAGAGAGGCAAGTGGGTGAGCCGATTGGCACAGCCCACCCCTGGCCAGCCCCTCACTCTGCCTGAACAATGAATGTGACTGGAGAGAACTTCAGCTTCCACACAACAGCAAAGCCTTGGGAGCTGGGCAGGCCAGCTGCCAGCAAGTCTTTGGGGGATGTGGCTTGTGAGGGGCATAAGTGGGGGCTGGGCAGGGCCAGAGCAGGGCGGCTGCCCTTCCATTGCAGAAGCCCATTTCGGAATCCCGGGACACAGGACGGAAGTGCCCTGGAGAAGTGGAGCACAGTCGTTGGACTGTACAGGGAAGTAGGGGAAGGCCATCGAGGGAAAGCTACTCCATGGGGTACAGCAAGAGAGCCTGAGACTAGACCTCAAGCAGGACTTCCTGGGAACCAAAATTGTCATTACTTGCTGGAAAACACCTACTGGGTGCAGATTCTAGTAAGTTTATTAACAGCTGTGCCATGAAAAGGTCTTCAGTGTGGCCAGGTCCAAAAGCAGGGGGAGATGGGGGCAATGGCTTTCCACCCCTAAAGATCATAAAGACAAACAGAAGCCCTGTGACTTCCCTGCATCTTCCAGGGCCACTGTACGCAGCCAGTGAGTCCTGTTTCCACCTCCTTGTCCTCCGTCCTCCCGGCTGGCTGCGCAGCCCCCCTTGCCACCCTCCTCACCCAGGACTCCCCCGCACAGGTTTTCATGTGTGGAGGAGAGGGGAGCACGTTAGTTTATTTACCAAAAGCCTGTGGGTCTCGCTCATAAGCAGCAACGTCCATCCCACCAGAGTTCAGATGAGAAGGGGGAGCACCCCTGCTACCAGCACCAAGCAAAGGCTGGGAGGGGAGGGACAGTGCAGAAGAGGGAGCCCCCCACTCCACCCCATGCAAACCACACACACGCGCCGCCCTCCCCTACTGCCCCCCCAAACACAACCACCGCATAAACTGTAAATGTGAGAATTTCCCCTGCAGTCAGCTCGGGGAGGAAAGGTAACATTTTCCTGGCCTAGGCCCTGCATGGCTAATGGGAGGGCTGGTTTGCAGAAATAACAGTGCTGGCCCTTCAGTGGCCCAGCCAGGCATTCACAATAGCACTTTCATTCCGAAATTCCCGGTGGAGGGAAGGAGGGAGGGCAGGAGGCCGGCGAGGGGCAGAGAGGCCTGTACTGTTTGGGGCCGCTCCTGCTACAAAGGGACAGCTGAGAGGTAGAAGGACGATAGGAGGTCGCCTGGGTCAGCCCAAGCCCAGATGGGTCATTCACACCTTGCCCAGTTTTGGGGGTCCGAGGGAATTTCCAGGGGACTCTAACTACTGCCTCCCTTCAGAGAGTGATGGATAAAGGCAATGCTTGTTTGCTTCAACCCCCAACCCTCATGTCCTTAGGATTCCAGGTTCAGCCCTTGGGCAAATGAAGGGTCTTGGGGGAATGAGAGGGGGCACTTCTTCTAGAGACCAGCGCTGGCCAATGAAGGGCCCCTTACAGATAGCAGAGAGCCACTGGGTGGGCAGAGAGTAGCACACAGGAGGGAAAAGTGCATCAGGAAACAAGACAGGGGCAGGAAAATCACTCTGCGGCTACCAGGCCTCCATGGCGGGACAGGGATGCCAGAGGTGGGACAGGGAGGGCCAGAAAGGTCATACCTGGCCCAGAAACAGCCAGCCCAGGACCTACTAGGGGTTCTGTCACGAAGAGTGCAGGGTAGGGGCTGGCCAGGGCCCCCAGCACATGGCAGACCTGGTCCTCCTGCCTCTCACCCGGTGCCCTGGAGGCCACGCCCACCAGGCCCAGCCAAAGTCGAAGCTGGTGGGCTCTATGATGCAGTGGGGTGACAGGAAAGGGGCTGAGTTGTAACTGTGCATCATCCAGCAACTTACAGTGTGATCATGGCCAAGTGGCTATCTGCTCCCCCAAGCCTCAGTTTCCTCATCTGTAAAACAGTGAGGTGGAACCAGATGGCCTCCCTTCAATCCACTGAGCACCTAAACACCAGCACCCACCTGCCCCTAAGCAGATGCTATCCCTTCAAAGCTGCC
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GCCCCATTCAGTCAGTGGCCCGTGTGCCCAGGTCATCTGTGCTGGGCCCTGCCTGGTTCCTGCAGTGAATTCTGCTTCCTCTGAGCTTCATGTTGCCGGGGCATTAGTGTCACGATGGACACGGGGGTCACAGCCAGTCCCTAGCTGGGCAGAAGACACAACTGCTGTGACCGAGGGCAGAAGCACTGGCCTAGAGTCCCTTGGAGTGGAGCCACTTCTCACTCACTGCTGGGTTCCTGGGCCAGCCCCACAGGCCTGATATGCAGTGGGCTCACAGGAGAAAAAGAACAAATCCCAAGGAGCCAGGCCCTGCGCAGCAGGTGTGCGTGTGTATGTGTGGGGGATGTGAGTCTAAACCCGGGCCTTCCCACTCCCAGTGCCAGCCCCTTCCTCCATCGCAGGAGGAGGACATTCAGTGGGTGATCAGGGGAGCCAATGGGGTCTGGGAGGGAGCCTGGGGCCACTCCCCTGGAGACCTGGGATGAGGCTGAGGGAAGGCGACCCCCAGAGGACCTAAAGACCCCGCCAGGGCTTTCTGGGGAGCAGGACACCAGGGCCATGGGTTCCCCACAGAAAGGCCCCAGCAGGCTATCTCATAGCACACCCTGCATTTTACAAATGTGGACTCTGGGCCCAGAGAGGGCAATGAAGGGACCTGGGTCCATTACTGGCCATGGCAACATCCATAAATCACAAAGCTTCTTGTAGTGGAAAAGCCACTCCAGCTCTTCCTAGCTCCCCAGGAAAGAAGTTGGAGCTAGAATATGGGGAGGCAAAGATAGTGGGCAGGGGAGGCTGCAGTGAGTGTCCATGGGCACCCAGCAGTGGAGCAGGCCTGCAGAGCCCAGGTGGGGATGGGCGAGTGAGCCCTCCTCGGGTGAAACATCCGCCTAAAGCAGGGCAAGCAGGTCCTGCGTGGAGCACAGCCGGGATCCCCAGGGGCCTAGGGGGCGGGGGGGAGGGTGGGAGGGCATGCAAGGCGCCAGCAACCTGAAAAGGCTGGGGGTGGGGGAGGATACCTCACATCCAAATCTCCCCTGCTCTTCCCCAAGGGCTGAGGCTGGTGACAAGCAAGTGGTTTCCCCTTGTGGGCCTGCCTTTCCCTAGATGGCCTTCCAGGGATATTGGGACTAGGAAATGAACTGAGATCATTCCCAGGCCTGAGCTCCCTGCAGGCCATGGGGAGAGAAGGGAGGGTGCCCCACGGCATCCTGCACAGCAGGGGTGGGGACACAGACTTCGCTTCCAGTTTCAAGGTCTCCAGCCACTGCTCAGAAAGCATGTGTGGGGCCAGACTACAGGGGGTAGAAATGGCTGGGCACATTTCCACCCAGGGAAAGCTCAGAATGGAGCCTGGGTGCTGGTGCTGCCCGTGAGGGGCACACGCCCACCCCACCTTCAGCTCCTGCATGGTCATCTCCTTCCCGTGCTCCTTGCTGCTCTCAATGAGGAGGTCCAGGGCGTCCAAGTAGTCCTTGCCCTGTGTGCACTGCAGCTTCTCCCGGATGGCCTTCTCCAGCCCCTTCTGCAGGATCTGCCGAGCCTGAATGCCCTGCAGAGGTGAGGGCTGTCACTCATATGGAAGGGCAGGCTCCCATCTGAGCCTCGGGACCACCAGGGACGACTCCAGCCTCCTCCTACCCCACGCTGACACCTCTCCCCTTTGTCCATGTGCCCTGTGCCTAGGTGCCCATCTCAGGGGTCAGGTCAGCCACCCACCCCCAGAGAGGGGGCTCATGGATGCCCCTGCTCCTCTCCTCCCAGGCCCTGGGTGCTCACCCGCCGGTAGCCACTGAAGGGCAGGTCGACAGGCAGGGAGAAGACATTGTCCACAAACTGCTGGTAGACCTCAAAGAGGTGCCCAAGGTCCTCCTCAGGGATGCTGAAGCCCAGCAGCACCCGGATGGCCATGCGGAAGGTCAGCTTCTGCGCCTCCTGGTACACGTTGATGGCCTCGGGGTGGCTGCTCCAGGCGCGCAGTGTGTCCTGGATCACCAGCTGGATCTTGGGCAGGTAACTCTCCAGGGCCTCGTGGCTGAAGATCTTGGGGAAGACCTGGAAGGCAGAGAGGCAAGTGGGTGAGCCGATTGGCACAGCCCACCCCTGGCCAGCCCCTCACTCTGCCTGAACAATGAATGTGACTGGAGAGAACTTCAGCTTCCACACAACAGCAAAGCCTTGGGAGCTGGGCAGGCCAGCTGCCAGCAAGTCTTTGGGGGATGTGGCTTGTGAGGGGCATAAGTGGGGGCTGGGCAGGGCCAGAGCAGGGCGGCTGCCCTTCCATTGCAGAAGCCCATTTCGGAATCCCGGGACACAGGACGGAAGTGCCCTGGAGAAGTGGAGCACAGTCGTTGGACTGTACAGGGAAGTAGGGGAAGGCCATCGAGGGAAAGCTACTCCATGGGGTACAGCAAGAGAGCCTGAGACTAGACCTCAAGCAGGACTTCCTGGGAACCAAAATTGTCATTACTTGCTGGAAAACACCTACTGGGTGCAGATTCTAGTAAGTTTATTAACAGCTGTGCCATGAAAAGGTCTTCAGTGTGGCCAGGTCCAAAAGCAGGGGGAGATGGGGGCAATGGCTTTCCACCCCTAAAGATCATAAAGACAAACAGAAGCCCTGTGACTTCCCTGCATCTTCCAGGGCCACTGTACGCAGCCAGTGAGTCCTGTTTCCACCTCCTTGTCCTCCGTCCTCCCGGCTGGCTGCGCAGCCCCCCTTGCCACCCTCCTCACCCAGGACTCCCCCGCACAGGTTTTCATGTGTGGAGGAGAGGGGAGCACGTTAGTTTATTTACCAAAAGCCTGTGGGTCTCGCTCATAAGCAGCAACGTCCATCCCACCAGAGTTCAGATGAGAAGGGGGAGCACCCCTGCTACCAGCACCAAGCAAAGGCTGGGAGGGGAGGGACAGTGCAGAAGAGGGAGCCCCCCACTCCACCCCATGCAAACCACACACACGCGCCGCCCTCCCCTACTGCCCCCCCAAACACAACCACCGCATAAACTGTAAATGTGAGAATTTCCCCTGCAGTCAGCTCGGGGAGGAAAGGTAACATTTTCCTGGCCTAGGCCCTGCATGGCTAATGGGAGGGCTGGTTTGCAGAAATAACAGTGCTGGCCCTTCAGTGGCCCAGCCAGGCATTCACAATAGCACTTTCATTCCGAAATTCCCGGTGGAGGGAAGGAGGGAGGGCAGGAGGCCGGCGAGGGGCAGAGAGGCCTGTACTGTTTGGGGCCGCTCCTGCTACAAAGGGACAGCTGAGAGGTAGAAGGACGATAGGAGGTCGCCTGGGTCAGCCCAAGCCCAGATGGGTCATTCACACCTTGCCCAGTTTTGGGGGTCCGAGGGAATTTCCAGGGGACTCTAACTACTGCCTCCCTTCAGAGAGTGATGGATAAAGGCAATGCTTGTTTGCTTCAACCCCCAACCCTCATGTCCTTAGGATTCCAGGTTCAGCCCTTGGGCAAATGAAGGGTCTTGGGGGAATGAGAGGGGGCACTTCTTCTAGAGACCAGCGCTGGCCAATGAAGGGCCCCTTACAGATAGCAGAGAGCCACTGGGTGGGCAGAGAGTAGCACACAGGAGGGAAAAGTGCATCAGGAAACAAGACAGGGGCAGGAAAATCACTCTGCGGCTACCAGGCCTCCATGGCGGGACAGGGATGCCAGAGGTGGGACAGGGAGGGCCAGAAAGGTCATACCTGGCCCAGAAACAGCCAGCCCAGGACCTACTAGGGGTTCTGTCACGAAGAGTGCAGGGTAGGGGCTGGCCAGGGCCCCCAGCACATGGCAGACCTGGTCCTCCTGCCTCTCACCCGGTGCCCTGGAGGCCACGCCCACCAGGCCCAGCCAAAGTCGAAGCTGGTGGGCTCTATGATGCAGTGGGGTGACAGGAAAGGGGCTGAGTTGTAACTGTGCATCATCCAGCAACTTACAGTGTGATCATGGCCAAGTGGCTATCTGCTCCCCCAAGCCTCAGTTTCCTCATCTGTAAAACAGTGAGGTGGAACCAGATGGCCTCCCTTCAATCCACTGAGCACCTAAACACCAGCACCCACCTGCCCCTAAGCAGATGCTATCCCTTCAAAGCTGCC
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Task1_train_3725
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Given this variant in gene SPR (sepiapterin reductase) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Dopa-responsive dystonia due to sepiapterin reductase deficiency
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ACACTGGGCAACACAGCAAGAGCCATCTCTATAAAAAAACACAAAAATTAGCGAGAGCAGATAATCATCTTCCTCAGAAAAGAAGAATTTTCCAGACCCTCTCCTAGTATAGGAAAACCACGTTCTCCTTAGGGGCTGTTCCCAAGTGGTTCCTCCTAGAAGCAGCTAGGTTCAGAAGAGTCTAGGTCTGATTTTTTGCCATCCCTTCATTGTTCCCTCCTTTTCTTCAAAAATCTGGCAAATGGTAGAAATTTAACAAATGTCAAATGAATGGATGGATGGGATCGTGCTTTCATCAACCTGTCTTCTAAGGCCTGGAGAGCAGGGAGAAGCTATTAAAATTCTTTAAATAGTAAGCTGTTGGGCCAATGAGATCTTTATCTTCAGTGTGAATAGGTAAGTGAAAAGCAGGGCAACTTCAAATGGTATACACATATACAGAGTCTTATCAGCGTTAAAATACCAAAAGCTTAAAAAACAATTAGCCAGGCGTGGTGGTGCGCACCTGTAATCCTAGCTACTCAGGAGCCTGAGGTGGAAGGATTGCTTGAGCCCAAGAATTCAAGGCTGCAGTAAACTGTGATCACACCTCTGCACTTCAGTTTGGGCCACAGAGCGAGACTCTGTCAAAAAAAAGAAAAAAGAAAAGAAAAAAGCCTTCCTCCAAGTTGTTTCTTCCTTAGAGTTGGCAATAATAGTGGAAAGGCGGTAACTTTGCTGTTTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCC
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ACACTGGGCAACACAGCAAGAGCCATCTCTATAAAAAAACACAAAAATTAGCGAGAGCAGATAATCATCTTCCTCAGAAAAGAAGAATTTTCCAGACCCTCTCCTAGTATAGGAAAACCACGTTCTCCTTAGGGGCTGTTCCCAAGTGGTTCCTCCTAGAAGCAGCTAGGTTCAGAAGAGTCTAGGTCTGATTTTTTGCCATCCCTTCATTGTTCCCTCCTTTTCTTCAAAAATCTGGCAAATGGTAGAAATTTAACAAATGTCAAATGAATGGATGGATGGGATCGTGCTTTCATCAACCTGTCTTCTAAGGCCTGGAGAGCAGGGAGAAGCTATTAAAATTCTTTAAATAGTAAGCTGTTGGGCCAATGAGATCTTTATCTTCAGTGTGAATAGGTAAGTGAAAAGCAGGGCAACTTCAAATGGTATACACATATACAGAGTCTTATCAGCGTTAAAATACCAAAAGCTTAAAAAACAATTAGCCAGGCGTGGTGGTGCGCACCTGTAATCCTAGCTACTCAGGAGCCTGAGGTGGAAGGATTGCTTGAGCCCAAGAATTCAAGGCTGCAGTAAACTGTGATCACACCTCTGCACTTCAGTTTGGGCCACAGAGCGAGACTCTGTCAAAAAAAAGAAAAAAGAAAAGAAAAAAGCCTTCCTCCAAGTTGTTTCTTCCTTAGAGTTGGCAATAATAGTGGAAAGGCGGTAACTTTGCTGTTTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGTGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCC
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Task1_train_3726
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A sequence alteration has been identified in SPR (sepiapterin reductase) on Chromosome 2. Is it disease-inducing or harmless?
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Pathogenic; Dystonic disorder
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TTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGG
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TTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACGGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGG
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Task1_train_3727
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This gene mutation involves SPR (sepiapterin reductase) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Dopa-responsive dystonia due to sepiapterin reductase deficiency
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TTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGG
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TTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACGGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGG
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Task1_train_3728
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Here is a genetic alteration in SPR (sepiapterin reductase) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Dopa-responsive dystonia due to sepiapterin reductase deficiency
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TAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGAAGAGATGGGATTTCACCAT
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TAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACTTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGAAGAGATGGGATTTCACCAT
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Task1_train_3729
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A mutation found in SPR (sepiapterin reductase) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Inborn genetic diseases
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GAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGAAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACTTGGCCTAG
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GAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTGTGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGAAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACTTGGCCTAG
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Task1_train_3730
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A mutation on Chromosome 2 affecting CCT7 (chaperonin containing TCP1 subunit 7) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Myocardial infarction, susceptibility to, 1
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AGCGAGATCCTGTCTCTACAAAAATAAAAAAATTAGCCAGGAATGGTGGCATGTGCCTGTAGTCAGTCCCAGCTACTCGGGAGGCTGAGGTGGAAAGATGCCTTGAGCCCAGGAGTTGGAGGTTACAGTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGCAGAAGAAAAAGACTTCGTTTTGTTAGCAAACTGGAGCTAATGTAGTCAGATATTCCAGTAATTGTGCCAGTGTCCTTGAGCTGCAGGTGACCTTGAAAATAGTCAGAAACCATAAGGTTCACCAGGTTGAAGTTGGGATGTTCTAGATAGGGGCTGTGTCTGGGCGTTTGGGGCTTGGGATGGAGGAAGGAATGAAGAACCACTCTTTCTGGGCTGAAGGGACCTACTGAGTGGCCCAGCATGGAAGCTTGGACCAGGGGCCCTCTTACATTGAGAGGTGGTCTGATCTCTGCAGAATGATTCAGTGGTGGCTGGTGGCGGGGCCATTGAGATGGAACTCTCCAAGTACCTGCGGGATTACTCAAGGACTATTCCAGGAAAACAGCAGCTGTTGATTGGGGCATATGCCAAGGCCTTGGAGATTATCCCACGCCAGCTGTGTGACAATGCTGGCTTTGATGCCACAAACATTCTCAACAAGCTGCGGGCTCGGCATGCCCAGGTGGGTCCTTTCTCTCCCCAGGGTTCAGGGTTTGGGCGGGTGGGGCTAGATTCTGAATGTGAGCTGTGCTTACTCAAGCTGTGCACGCCTGGCCCAGGAGATAGGCTGCAACTCCCCCCAGCCTGTCTGCCTGACCAACTCCCTCCTCTGAGGGCAGAAGGAAAGCCATGGTGCTAGCACAGGAGATCCAGGGTTTCTTCATTGCTTCTACCAAGAGTATGATCGTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAACATTCGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTATGTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCGCTGCACTCCAGCCCGGGTGGTAGTGTGAGACTCCATCTCAAAAAAAAAAAAAGAGTATGATTGCTTCTTATGGTACCACAGGAGGAACCTTGCATCCACCTTCCTGGAAGCACATACTGACCACATGGAGTGGGCTTACTGGTGTGGTGAAGCTCTCCAGAGCCCTACAAGTGTGACCCTGGGCTAGTTACTTCAACCTCTCTGAGAGTTTAATTTCTCCATTTGTTAAATAGATAGAGGTTTGTTAAGTGCTTAGCACCCAGTGAATGACCCTGCTTCTGGCTTGTATTAGGACTTTTGCTTAAAGTCACTTTACCTCTGTGTCTCACTTGCCTCATCTGTAAAATCGGGCTATTTGAAGCAATGAGATGAAAGATGGGATAGTATTTTTGTTATTCCTGTTTATCTTGAGAACTCATTGTTTGATATATATATATATATATATATATATAGTCCTCAGGTGACCTGAGGATGGGGCCGCCCCAAAACACAACAGCTTGCCTGGGAGAAGATCCCAGAGGTCTTGTGTGGTATGTCCAGGGCTAAGGGGAGGAGTTGGCGGGAGTAGGGGTGTTTCCAGGTTCCTGGCATGCTCATAGGAAGATGCAGTATTCTTCAGCGAAATGCCACCAAGTTCAGAGAGTCTGCGGGTTCCTAGCAGTGTCTTTTGGAGTACCAGTTTACAAGAGGAAAGTTGAAAGTAGTTCCATATTACCTCCTTTCTTTTCCTACTCTTTTAGGGGGGTACATGGTATGGAGTAGACATCAACAACGAGGACATTGCTGACAACTTTGAAGCTTTCGTGTGGGAGCCAGCTATGGTGCGGATCAATGCGCTGACAGCAGCCTCTGAGGCTGCGTGCCTGATCGTGTCTGTAGATGAAACCATCAAGAACCCCCGCTCGACTGTGGATGCTCCCACAGCAGCAGGCCGGGGCCGTGGTCGTGGCCGCCCCCACTGAGAGGCACCCCACCCATCACATGGCTGGCTGGCTGCTGGGTGCACTTACCCTCCTTGGCTTGGTTACTTCATTTTACAAGGAAGGGGTAGTAATTGGCCCACTCTCTTCTTACTGGAGGCTATTTAAATAAAATGTAAGACTTCAGATAACTTTGTAAATTATTTTGGCATGGTACTCATAAATGTCTGGCTGTAGCTCAGAATTTTAGCTTTACATGCACTTGTCCAACAGGGAGACAAGAGCATCCTGGGGTGAGCTCCACTAGAGTGGCCCGTCTGGAAGTTTCACTGTGGTTGCATTCTTTGTTCCAGAAGTGGCTGGACAACACGCAGTTGCTTTCTTCTGGCATCATCTTATTTAGCCCTGGCCTAGCCAGACACTGCTCTCAGGGTTTCTCTGGTTTGAGTAAATGGGTTACATTACCTTGTCTGCCCCTTCTATCTCCATATTCTTTTGGTTTAGTCTTTTGTTCCCTCTTACTCAAGACTGTGAGAAGGGTGTTTTAGGGAGGGCTTATGCTCTCTAAACTCTAGTGATCCCTTGGAAGTCTACTAAGGAGACGACTGAAAGCACCCACCTAGTCTTTTCAGTTCAGCCCCCAGTGATCTTGGTCCTTCTGCTTTCTTGTGACCAATGGGAGTTTGGAATGGCTGGCACAGATGAGCTGGAAATCCAGCAGTGTCTAACATCCTCCTGATTTACACTGGTCCTGATAGCTGGCCTGCACCCTGCTGTAGTTGGTCGTTGTTAAAAGCTGGAGGTAAATGATGATGTCATTGTCAGCCATTGAGACTTGCTAGCTAAAACTGGGAAGTGATTTTTAAAAAAAATTCTCTGAACCCAGCCACTCCTGGTTAGATGGACTCTAAAGCACAGAGGATGGCAGGCAGGTCCAGGCTTTGGAGTCTGGCATTCCTCCTAACTTGATGGTCTTTAGGTAGACTAATTTTTCTGAGCCTCTGCTATTCTACCTGTATGACAGGGTAAGAGTAGCTGGCTCAAAGAGTAGTGAGACTTAAATGTTTATTTTTATGTTAGAGACACAGTTTAAGCCTAAAAACACTTATTCTTTTTTCTGATTTTAAATATTTCAGGACCTGAGGAATCAAGTCAGGGGCAGAAGGACATTTTGTAAAATGAGGAAGTCAAGGCCAGGCCATGATGTCAACCTGGTCTCCCGCAGTCAAAGCCTGATTGGCTGGCCAGAGCCTCCTGAGTAGGCAGTCAAGCCAGGGAGGGGCTGGGCAGTGCCTGCTGCCCTGTTGTACTGGTTTTGTCCTTGAAGGTAGTCTCTCCTAGCTGAGAGTCAGAAATGATGTATCTCAAGGCGTTTCCTCTGGATACACACACTGAAAGCAGGGTTGAGCGGTGGCAGGACAGTCACCCTAGGTGGCTTTTCTGCAGTCCTGAGGCAAGTTTTTGTTGTTTCTGAGACAGGGCCTCACTCAGTTAACTAAGCTGGAGTGTGCAGTGGTGTGATCTCAGCTCACTGTAACCTCCACTTCCCTGGCTCGATATCCTCCCACCTCAGCCTCCCAAGGAGCTGGCAATACAGGCACATGCCGAGCTAATTTTTCAGTTTTTCTTGCAGAGACAGGGTTTCACTATGTTGCCCAGACTAGTCTCGAATTCCTGGGCTCAAGTGATTCTCCCGCCCCAGCCTCCCAAAGTGCTAGGATTACAGATATGAGCAACTGTGCCCGCTGGCAAGTCTTGTTATACTTCATTCCCCTGGGTTACCTGCCTCTCTGCACTTGAGCTGCAGAAAGACCATGATAACACAGATGATAAGTGTGGCCACATACCATTTACCTCTCTGGGGCAGATAGACCAGTTTCACCATCTTTTTTATTGGATACAGAGCCATAAATTCTCTGATGCCCATGTGAGTCCTTTTAAATACATACACTCAGGTACATTCAGCAAAGGGCATCTTACGGGTGACATGGAGCAAAGTGCTGGGATGGCGATGCCTGGGTGGGGCAGAGA
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AGCGAGATCCTGTCTCTACAAAAATAAAAAAATTAGCCAGGAATGGTGGCATGTGCCTGTAGTCAGTCCCAGCTACTCGGGAGGCTGAGGTGGAAAGATGCCTTGAGCCCAGGAGTTGGAGGTTACAGTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGCAGAAGAAAAAGACTTCGTTTTGTTAGCAAACTGGAGCTAATGTAGTCAGATATTCCAGTAATTGTGCCAGTGTCCTTGAGCTGCAGGTGACCTTGAAAATAGTCAGAAACCATAAGGTTCACCAGGTTGAAGTTGGGATGTTCTAGATAGGGGCTGTGTCTGGGCGTTTGGGGCTTGGGATGGAGGAAGGAATGAAGAACCACTCTTTCTGGGCTGAAGGGACCTACTGAGTGGCCCAGCATGGAAGCTTGGACCAGGGGCCCTCTTACATTGAGAGGTGGTCTGATCTCTGCAGAATGATTCAGTGGTGGCTGGTGGCGGGGCCATTGAGATGGAACTCTCCAAGTACCTGCGGGATTACTCAAGGACTATTCCAGGAAAACAGCAGCTGTTGATTGGGGCATATGCCAAGGCCTTGGAGATTATCCCACGCCAGCTGTGTGACAATGCTGGCTTTGATGCCACAAACATTCTCAACAAGCTGCGGGCTCGGCATGCCCAGGTGGGTCCTTTCTCTCCCCAGGGTTCAGGGTTTGGGCGGGTGGGGCTAGATTCTGAATGTGAGCTGTGCTTACTCAAGCTGTGCACGCCTGGCCCAGGAGATAGGCTGCAACTCCCCCCAGCCTGTCTGCCTGACCAACTCCCTCCTCTGAGGGCAGAAGGAAAGCCATGGTGCTAGCACAGGAGATCCAGGGTTTCTTCATTGCTTCTACCAAGAGTATGATCGTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAACATTCGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTATGTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCGCTGCACTCCAGCCCGGGTGGTAGTGTGAGACTCCATCTCAAAAAAAAAAAAAGAGTATGATTGCTTCTTATGGTACCACAGGAGGAACCTTGCATCCACCTTCCTGGAAGCACATACTGACCACATGGAGTGGGCTTACTGGTGTGGTGAAGCTCTCCAGAGCCCTACAAGTGTGACCCTGGGCTAGTTACTTCAACCTCTCTGAGAGTTTAATTTCTCCATTTGTTAAATAGATAGAGGTTTGTTAAGTGCTTAGCACCCAGTGAATGACCCTGCTTCTGGCTTGTATTAGGACTTTTGCTTAAAGTCACTTTACCTCTGTGTCTCACTTGCCTCATCTGTAAAATCGGGCTATTTGAAGCAATGAGATGAAAGATGGGATAGTATTTTTGTTATTCCTGTTTATCTTGAGAACTCATTGTTTGATATATATATATATATATATATATATAGTCCTCAGGTGACCTGAGGATGGGGCCGCCCCAAAACACAACAGCTTGCCTGGGAGAAGATCCCAGAGGTCTTGTGTGGTATGTCCAGGGCTAAGGGGAGGAGTTGGCGGGAGTAGGGGTGTTTCCAGGTTCCTGGCATGCTCATAGGAAGATGCAGTATTCTTCAGCGAAATGCCACCAAGTTCAGAGAGTCTGCGGGTTCCTAGCAGTGTCTTTTGGAGTACCAGTTTACAAGAGGAAAGTTGAAAGTAGTTCCATATTACCTCCTTTCTTTTCCTACTCTTTTAGGGGGGTACATGGTATGGAGTAGACATCAACAACGAGGACATTGCTGACAACTTTGAAGCTTTCGTGTGGGAGCCAGCTATGGTGCGGATCAATGCGCTGACAGCAGCCTCTGAGGCTGCGTGCCTGATCGTGTCTGTAGATGAAACCATCAAGAACCCCCGCTTGACTGTGGATGCTCCCACAGCAGCAGGCCGGGGCCGTGGTCGTGGCCGCCCCCACTGAGAGGCACCCCACCCATCACATGGCTGGCTGGCTGCTGGGTGCACTTACCCTCCTTGGCTTGGTTACTTCATTTTACAAGGAAGGGGTAGTAATTGGCCCACTCTCTTCTTACTGGAGGCTATTTAAATAAAATGTAAGACTTCAGATAACTTTGTAAATTATTTTGGCATGGTACTCATAAATGTCTGGCTGTAGCTCAGAATTTTAGCTTTACATGCACTTGTCCAACAGGGAGACAAGAGCATCCTGGGGTGAGCTCCACTAGAGTGGCCCGTCTGGAAGTTTCACTGTGGTTGCATTCTTTGTTCCAGAAGTGGCTGGACAACACGCAGTTGCTTTCTTCTGGCATCATCTTATTTAGCCCTGGCCTAGCCAGACACTGCTCTCAGGGTTTCTCTGGTTTGAGTAAATGGGTTACATTACCTTGTCTGCCCCTTCTATCTCCATATTCTTTTGGTTTAGTCTTTTGTTCCCTCTTACTCAAGACTGTGAGAAGGGTGTTTTAGGGAGGGCTTATGCTCTCTAAACTCTAGTGATCCCTTGGAAGTCTACTAAGGAGACGACTGAAAGCACCCACCTAGTCTTTTCAGTTCAGCCCCCAGTGATCTTGGTCCTTCTGCTTTCTTGTGACCAATGGGAGTTTGGAATGGCTGGCACAGATGAGCTGGAAATCCAGCAGTGTCTAACATCCTCCTGATTTACACTGGTCCTGATAGCTGGCCTGCACCCTGCTGTAGTTGGTCGTTGTTAAAAGCTGGAGGTAAATGATGATGTCATTGTCAGCCATTGAGACTTGCTAGCTAAAACTGGGAAGTGATTTTTAAAAAAAATTCTCTGAACCCAGCCACTCCTGGTTAGATGGACTCTAAAGCACAGAGGATGGCAGGCAGGTCCAGGCTTTGGAGTCTGGCATTCCTCCTAACTTGATGGTCTTTAGGTAGACTAATTTTTCTGAGCCTCTGCTATTCTACCTGTATGACAGGGTAAGAGTAGCTGGCTCAAAGAGTAGTGAGACTTAAATGTTTATTTTTATGTTAGAGACACAGTTTAAGCCTAAAAACACTTATTCTTTTTTCTGATTTTAAATATTTCAGGACCTGAGGAATCAAGTCAGGGGCAGAAGGACATTTTGTAAAATGAGGAAGTCAAGGCCAGGCCATGATGTCAACCTGGTCTCCCGCAGTCAAAGCCTGATTGGCTGGCCAGAGCCTCCTGAGTAGGCAGTCAAGCCAGGGAGGGGCTGGGCAGTGCCTGCTGCCCTGTTGTACTGGTTTTGTCCTTGAAGGTAGTCTCTCCTAGCTGAGAGTCAGAAATGATGTATCTCAAGGCGTTTCCTCTGGATACACACACTGAAAGCAGGGTTGAGCGGTGGCAGGACAGTCACCCTAGGTGGCTTTTCTGCAGTCCTGAGGCAAGTTTTTGTTGTTTCTGAGACAGGGCCTCACTCAGTTAACTAAGCTGGAGTGTGCAGTGGTGTGATCTCAGCTCACTGTAACCTCCACTTCCCTGGCTCGATATCCTCCCACCTCAGCCTCCCAAGGAGCTGGCAATACAGGCACATGCCGAGCTAATTTTTCAGTTTTTCTTGCAGAGACAGGGTTTCACTATGTTGCCCAGACTAGTCTCGAATTCCTGGGCTCAAGTGATTCTCCCGCCCCAGCCTCCCAAAGTGCTAGGATTACAGATATGAGCAACTGTGCCCGCTGGCAAGTCTTGTTATACTTCATTCCCCTGGGTTACCTGCCTCTCTGCACTTGAGCTGCAGAAAGACCATGATAACACAGATGATAAGTGTGGCCACATACCATTTACCTCTCTGGGGCAGATAGACCAGTTTCACCATCTTTTTTATTGGATACAGAGCCATAAATTCTCTGATGCCCATGTGAGTCCTTTTAAATACATACACTCAGGTACATTCAGCAAAGGGCATCTTACGGGTGACATGGAGCAAAGTGCTGGGATGGCGATGCCTGGGTGGGGCAGAGA
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Task1_train_3731
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With a mutation on Chromosome 2 in gene ALMS1 (ALMS1 centrosome and basal body associated protein), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Alstrom syndrome
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CTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCA
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CTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTTTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCA
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Task1_train_3732
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This sequence change occurs on Chromosome 2, altering TPRKB (TP53RK binding protein). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Galloway-Mowat syndrome 5
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ATGGGTTGGACCCACTGGCTAGATAAGCGTGAGATTTCTGTCTTTGCAGCATCTTAGCGGATCATTGTCTGTGATGCACATCTCACTCTGAGTTAATGCCTCTTCAATGATGAAAGTGTTTTCTTCCTCTTCTACCTCTGCAGAGAGGCTTGCTGGGATAGATTTTGTTTGTAATTCTATTTCCCCACCGCCAGAGGCCGGACTTTGGGGGTCAGGCAGCTGAGAAGGAGTTTAGAACCCATGCCTAGGCCTTCCACACTCTACAGGCACCCAGTTCATCCATCAGTAGCAGAACTTAGAGTCTTCCTGGGACTCCATACTGCCTGGAGAGAGGAATTCGTTCTCTTTCATTGCTGACATTCCTGGGTGAATGCCTGTGGCAGTTATACTTTACCCATCCCATTTTGTACCTCCTTCCACTCCAGGGGACCCCAAGGGGCCTGGCTCCACTTGCCCAGTGCACCTCCGAAGAAGGGAGACTGGGAAATGAGGATCCTGCCAGGGGGCCAGGTGTTGGACAAGGTGCATGTGAATGTGGAGGAGGAAGACGGAGCCCTCCCAAGAACCTGACAGGGTCAGGGATGAGGTGAGAGTGCTCAGAAGAGTGCTGAGGCAGGACCCAGGCTGGGGCCACGGACCTGCCTCAGCAGCTGGGGTCTGACCTCTTGGGGTTGTGTTCTGACTCCCCTTCCCCCATGGCTCTTTGCCCTCTGGAAGCCAAGGGGCAATGGCAGGTTCACAGTGGCACTGCAAGGGTACAGTTGTTGGGGGTTCTTGGGAGCAGGGGCACCAGTTCTGCTGTGGCCCTGGTTGCCTCCCCTTGCCCAGGCTCCATGTGCACCCTCAGAGTCCCCCTGGCACAACCTTTCTTCTTCTCACGAGGAACACCCCCACTTCCACTTGGGCCTCTGCCAGGAAGAAGGGTGGGAGCTCTGCCGAGGTGTCCCTCTGAGTGACCACCCTCAGCTGGAGCCGCCAGGCCTCTGCACAGTAGCTGCCCCTGGGCCTTGTGTGTAAAATGGGGGTAATAACAGTATCTACCTCATAAGGTTGCTGCAAGAACTAAATGAGTTCCTAGAAGTGAAAGACACTTAGAACCAGGATCCAGAGGCTTGCGAAGGGTGAGCTGGAGTAGCCATGGTAAGTATGGAGAGGGAGGTGAACTGAGGATATAAAATCACCAAGGCAAAAAATTTAAAAACAGAAACAATAACCAGCTGGGCTCAGTGGCTCATGCCTGTAATTCCAGCGCTTTGGGAGGCGCAGCAGAAGCATCACTTGAGTCCAGGATTTTGAGACCAATCTGGGCAACATAGTGAGACCACATCTCTACAAAAAAAAAAAAAAAAATCACTAAGGCAAGAACCTAGTACACTGTAGGCATTCCATAAGTGTTTGCAATTTTTATTCTAATTATATAAAAATAAAATATATTTGAATAGAAACAGAACTCTAGAAGGCAATAACAAGTAATAGTAACTGATTATCTTTTAAAATACAACGAGGTAGGACTACAAGTGGTTTTTTTGTTTTTTTTTTTTTTGGTTTTTTTTTTTGAGACGGAGTCTCGCTCAGCTGCCCAGGCTGGAGTGCTATGGCACGATCTCAGCTCACTGCAACCTGTGCCTCCCAGGTTCATGCGATTCTCCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCATGCCCAGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAATTGCTGGGATTTCAGGCGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTAATACCATTCTGTGATTTAAACTTTTCTATAATGCACAATTAGTTTTATAGTCAGGAAAGGAAAATCAATGTTTTCTTTAATGCTGAGAATTTTTGTTAATATTTCTGACATTTCATAAAACATCTTTTGTTGACATTCTACAAATGATAGCATCCAATAATGTCCCAATACTTTCTTCTTGTGAAGAGAGTTTATATATCTGTAAAAATGAAAGACAAATTATGACTTGCTGATATCGTCATTCACTACTAATTGTCATTATACAAACATGTGTAAGTGAAATTATTCCTCATTCAATTATTGGGTTCATGGTATAACAAACAACAAATGTGATTAAAATATTCAAAGTAGAGGGCAATTCATTACTTGTATCCCCTTTAAATTGCTGCTATGGGAGTAACTCTCAAGAACATAAAAACCAAATTTCTATCCATTTTAAAAGCATACTAAATTTATTTTACATTTTAAATATACTATGTAAGTTTGATATTTAAAGGTATTCTCTTTCTTAATGTGGAGAATGGTTATGTCAGCTGAGTTTGTAATTATATTTTACATAAACCATCACACCTCCCAGTTCTTTGTATCTGTAATTTTTAAGTAATTTTTAAAATTAGATTAACTTTCTCAAAAGTTCAAAAAACAAGGAGCTCTGGTGATCAATAGGCAAACGGCATCAGCATTATTGCTCATCTATCACACTCTTTCTAAAAATATGGACTGGCAAACCTTTTTGACTTCTGTAATATTCATTATTTCAGGAAGATTTTTCAGAGAAACCTGATGACCTTCTACTTGAGATATTAGGTATTCTTGATTTATTTGTTTTTCTCCCTCTTCAATGTAAACAATTAGAATTGAAGTGTCATTTGCTGAGATACCAAATTTTTTCAAAGCCTCTGAAATCTAAGAGAAAAAAAATGAAAAAAAAAACACAAGATCATTAACCATTGTTTCCTACGTCTGAAACATTTCCTGATCTGCCTTCTTCCTTGGTCAGGCTCTTATTTTTCATGTCCTAACAGTTCTCACTGCCTACTTTTTCACTTTAATGATTCCTTTCCAACATCCATTGGCACTTCCTCAAAAGCACTCCCTGCTTAAAGGTACGCCTTGTTCCTATGGAATCAAGCCCAGCCTCTTGGCGCTGCACAAAAACACCTCCTCCCTCTGGTGCCAAGTGGCCCTCCAGCCAGGCGCTTCTGCCTTCTGGCCAGTCCAGCCTGCCTGGGGATCCAGTCACATTTCATGCCCTTCTGCCTGTGCTCAAGCTTTGTCCTCTGCTCGCATGTCCCTTCTCCTCATGGCTTGGCTGCTGAACACATGCTTCAGGGTCCACAGTTCTGATGCCACTCCCCACCACACCCTCCTCCCTCCAAAATGAATGGCTTCATTGCTGTACCCCTAGATTTGAATTCATTTTCCCATTATATCATTTATCTTAGGGCATTTTAACTTGTCTTGTTTATCTGCCTCTCCTCAGGAACATATTTGCCTCTTCTGCCCCTAGAACTGTAAATGGAACGGGGAAAAAGTTCAACAGATGTTTACTGAATTCAAGAGTTTTCTGAATTATGTCTAATGATCTCAAGGAAACCATAATTAGTAAATTTTATTCCAGGTACTGGGAATCTCTATTACCATGCTGAGATAACTGCATTTTATAAACTTGTCAATCATCTGTATTTTAACCTATGCTACAGGTTTCCTGTAGATGACATTAGTACCTGGTTGTTATTAACAGCAGCAGTAATACTAAAACTTCATCAGCAAAATTGCAGTCATTTTTTTCATGTGCTACATGTGTGATGTCTTTAGCTTGATAACTTTCATTGAAAAAGCATTACTATAAGTATTTCAAACCACAAACTCTACCTATGTACTGGGTGTGTGAGTGAGGCTGTGTTAAGGACTGTTATAGGTACAAGCAAGTTCCTGGTATATGAAAAAGACATGGATCCCACCCTCAAGGAGTTTACGGGAAGAGAGAATGATATGCAGGCTAGCACACAAAATATCCACGCCTAATGTTTTATCATTTAGATTTCTGTCAGCTTCTCAAGCAAAAATACTTGAGGGGTCTTCCTGACCCTATATGGTAAGAACAGATAAAATTAACCTCGCTTAATTTAGCTAAATTTTTGTTTACTCATATGTAAACTGTCTTAGTAAGAGGCAGGGTTAAACCTCAACTCTCTGTCCAGAGCTCTCTTCACTATTATTTGGGTTTATTACTAACCAC
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ATGGGTTGGACCCACTGGCTAGATAAGCGTGAGATTTCTGTCTTTGCAGCATCTTAGCGGATCATTGTCTGTGATGCACATCTCACTCTGAGTTAATGCCTCTTCAATGATGAAAGTGTTTTCTTCCTCTTCTACCTCTGCAGAGAGGCTTGCTGGGATAGATTTTGTTTGTAATTCTATTTCCCCACCGCCAGAGGCCGGACTTTGGGGGTCAGGCAGCTGAGAAGGAGTTTAGAACCCATGCCTAGGCCTTCCACACTCTACAGGCACCCAGTTCATCCATCAGTAGCAGAACTTAGAGTCTTCCTGGGACTCCATACTGCCTGGAGAGAGGAATTCGTTCTCTTTCATTGCTGACATTCCTGGGTGAATGCCTGTGGCAGTTATACTTTACCCATCCCATTTTGTACCTCCTTCCACTCCAGGGGACCCCAAGGGGCCTGGCTCCACTTGCCCAGTGCACCTCCGAAGAAGGGAGACTGGGAAATGAGGATCCTGCCAGGGGGCCAGGTGTTGGACAAGGTGCATGTGAATGTGGAGGAGGAAGACGGAGCCCTCCCAAGAACCTGACAGGGTCAGGGATGAGGTGAGAGTGCTCAGAAGAGTGCTGAGGCAGGACCCAGGCTGGGGCCACGGACCTGCCTCAGCAGCTGGGGTCTGACCTCTTGGGGTTGTGTTCTGACTCCCCTTCCCCCATGGCTCTTTGCCCTCTGGAAGCCAAGGGGCAATGGCAGGTTCACAGTGGCACTGCAAGGGTACAGTTGTTGGGGGTTCTTGGGAGCAGGGGCACCAGTTCTGCTGTGGCCCTGGTTGCCTCCCCTTGCCCAGGCTCCATGTGCACCCTCAGAGTCCCCCTGGCACAACCTTTCTTCTTCTCACGAGGAACACCCCCACTTCCACTTGGGCCTCTGCCAGGAAGAAGGGTGGGAGCTCTGCCGAGGTGTCCCTCTGAGTGACCACCCTCAGCTGGAGCCGCCAGGCCTCTGCACAGTAGCTGCCCCTGGGCCTTGTGTGTAAAATGGGGGTAATAACAGTATCTACCTCATAAGGTTGCTGCAAGAACTAAATGAGTTCCTAGAAGTGAAAGACACTTAGAACCAGGATCCAGAGGCTTGCGAAGGGTGAGCTGGAGTAGCCATGGTAAGTATGGAGAGGGAGGTGAACTGAGGATATAAAATCACCAAGGCAAAAAATTTAAAAACAGAAACAATAACCAGCTGGGCTCAGTGGCTCATGCCTGTAATTCCAGCGCTTTGGGAGGCGCAGCAGAAGCATCACTTGAGTCCAGGATTTTGAGACCAATCTGGGCAACATAGTGAGACCACATCTCTACAAAAAAAAAAAAAAAAATCACTAAGGCAAGAACCTAGTACACTGTAGGCATTCCATAAGTGTTTGCAATTTTTATTCTAATTATATAAAAATAAAATATATTTGAATAGAAACAGAACTCTAGAAGGCAATAACAAGTAATAGTAACTGATTATCTTTTAAAATACAACGAGGTAGGACTACAAGTGGTTTTTTTGTTTTTTTTTTTTTTGGTTTTTTTTTTTGAGACGGAGTCTCGCTCAGCTGCCCAGGCTGGAGTGCTATGGCACGATCTCAGCTCACTGCAACCTGTGCCTCCCAGGTTCATGCGATTCTCCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCATGCCCAGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAATTGCTGGGATTTCAGGCGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTAATACCATTCTGTGATTTAAACTTTTCTATAATGCACAATTAGTTTTATAGTCAGGAAAGGAAAATCAATGTTTTCTTTAATGCTGAGAATTTTTGTTAATATTTCTGACATTTCATAAAACATCTTTTGTTGACATTCTACAAATGATAGCATCCAATAATGTCCCAATACTTTCTTCTTGTGAAGAGAGTTTACATATCTGTAAAAATGAAAGACAAATTATGACTTGCTGATATCGTCATTCACTACTAATTGTCATTATACAAACATGTGTAAGTGAAATTATTCCTCATTCAATTATTGGGTTCATGGTATAACAAACAACAAATGTGATTAAAATATTCAAAGTAGAGGGCAATTCATTACTTGTATCCCCTTTAAATTGCTGCTATGGGAGTAACTCTCAAGAACATAAAAACCAAATTTCTATCCATTTTAAAAGCATACTAAATTTATTTTACATTTTAAATATACTATGTAAGTTTGATATTTAAAGGTATTCTCTTTCTTAATGTGGAGAATGGTTATGTCAGCTGAGTTTGTAATTATATTTTACATAAACCATCACACCTCCCAGTTCTTTGTATCTGTAATTTTTAAGTAATTTTTAAAATTAGATTAACTTTCTCAAAAGTTCAAAAAACAAGGAGCTCTGGTGATCAATAGGCAAACGGCATCAGCATTATTGCTCATCTATCACACTCTTTCTAAAAATATGGACTGGCAAACCTTTTTGACTTCTGTAATATTCATTATTTCAGGAAGATTTTTCAGAGAAACCTGATGACCTTCTACTTGAGATATTAGGTATTCTTGATTTATTTGTTTTTCTCCCTCTTCAATGTAAACAATTAGAATTGAAGTGTCATTTGCTGAGATACCAAATTTTTTCAAAGCCTCTGAAATCTAAGAGAAAAAAAATGAAAAAAAAAACACAAGATCATTAACCATTGTTTCCTACGTCTGAAACATTTCCTGATCTGCCTTCTTCCTTGGTCAGGCTCTTATTTTTCATGTCCTAACAGTTCTCACTGCCTACTTTTTCACTTTAATGATTCCTTTCCAACATCCATTGGCACTTCCTCAAAAGCACTCCCTGCTTAAAGGTACGCCTTGTTCCTATGGAATCAAGCCCAGCCTCTTGGCGCTGCACAAAAACACCTCCTCCCTCTGGTGCCAAGTGGCCCTCCAGCCAGGCGCTTCTGCCTTCTGGCCAGTCCAGCCTGCCTGGGGATCCAGTCACATTTCATGCCCTTCTGCCTGTGCTCAAGCTTTGTCCTCTGCTCGCATGTCCCTTCTCCTCATGGCTTGGCTGCTGAACACATGCTTCAGGGTCCACAGTTCTGATGCCACTCCCCACCACACCCTCCTCCCTCCAAAATGAATGGCTTCATTGCTGTACCCCTAGATTTGAATTCATTTTCCCATTATATCATTTATCTTAGGGCATTTTAACTTGTCTTGTTTATCTGCCTCTCCTCAGGAACATATTTGCCTCTTCTGCCCCTAGAACTGTAAATGGAACGGGGAAAAAGTTCAACAGATGTTTACTGAATTCAAGAGTTTTCTGAATTATGTCTAATGATCTCAAGGAAACCATAATTAGTAAATTTTATTCCAGGTACTGGGAATCTCTATTACCATGCTGAGATAACTGCATTTTATAAACTTGTCAATCATCTGTATTTTAACCTATGCTACAGGTTTCCTGTAGATGACATTAGTACCTGGTTGTTATTAACAGCAGCAGTAATACTAAAACTTCATCAGCAAAATTGCAGTCATTTTTTTCATGTGCTACATGTGTGATGTCTTTAGCTTGATAACTTTCATTGAAAAAGCATTACTATAAGTATTTCAAACCACAAACTCTACCTATGTACTGGGTGTGTGAGTGAGGCTGTGTTAAGGACTGTTATAGGTACAAGCAAGTTCCTGGTATATGAAAAAGACATGGATCCCACCCTCAAGGAGTTTACGGGAAGAGAGAATGATATGCAGGCTAGCACACAAAATATCCACGCCTAATGTTTTATCATTTAGATTTCTGTCAGCTTCTCAAGCAAAAATACTTGAGGGGTCTTCCTGACCCTATATGGTAAGAACAGATAAAATTAACCTCGCTTAATTTAGCTAAATTTTTGTTTACTCATATGTAAACTGTCTTAGTAAGAGGCAGGGTTAAACCTCAACTCTCTGTCCAGAGCTCTCTTCACTATTATTTGGGTTTATTACTAACCAC
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Task1_train_3733
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A variant affecting Chromosome 2, within the gene STAMBP (STAM binding protein), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Microcephaly-capillary malformation syndrome
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TGAATCTGTATTTCTTTTAAATATAGACTTCAAGGAAACTGTTTTATATCTTTCTTTTTTTTTTTTTTTTTCCAAATAGAGATAGGATCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCAAAGCTCACTGTAACCTCAGACTTCTGGGATCGAGAGATCCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACTACAGATGCATACCACCACACCCAGCTAATTTTTGTGTTTTTTTATGTTTTGTTATATATGTTTGTGTATGTATATATATATATGTATATATATATATAAATTAAAAAATATAAATAGAGACAAGGTCTCACCCTGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCTTTTATATCTTCTTCATGAACCCAAAAGGAAGCTTTTTAAAGAACCATTTTTATTTTAGAGTCCATCCCTGCCTTGAGGAGCCTTATCAAGTTGGATCAAAATGAAACTTGTGTGCCTAATATAGAACTGAAGGATGAGGACTTATCTTTAGAAAGTTTGTTTTGGTGGGGATCATCTTTTTTCTTTATTGAGGATTCTTCTTCCAATTACTTCTGCCCCATGGGCAGTAAGTAGAAAAGAGTTTATCCCAATTACAATATAATATTTTAGAGCTATCAGCAAGCTACCTTCAATTTATTTTTTTATCTCAGTTTCTGTGTATTACAACTTAATTCTGTTAAAAGACATCTTTGTTCAGAATCCCTCCAGTAGTTCTAGACATTCCAGAATCCGTATGGAAGAAGTATGGTGTAGTGGTTAAAAGAATAGGCTCTGGAGCCAGCCTGCTCATACTGAAATTCTGAATCTGCCACTTTCTTTCTGTGACAGGTTACTGGACTTTTATTTATTTTCACTGCCCCTAAGTAGATGTCTTAAATGTTAGAGATTTGTGAATTAATTAAGTTTATTCTCCCCACTGAGCTTTAGAGCCATGGACAAGAACCAAAAGATGAAATCTAGCATCTTATATTTACCTAAGCACTTTTCATCAAAGACAGTGCATGCTAACATGTAATATGCACATACTACATGCATAGAACACATGCACTAAGTATTTCCATGCATTTTTGTATGATGCAAAGTAGTATTCTTCTTTGAAGGAACACGAATCCCAAAGGAAAAAAGCCAAAGTTAAAGGTTACATAAGAGCTAGAAGGAGTAAGGAAACATGGTTTTCTCTTGCTTCCTGCCCATGGCTGCCAAACGGTTCTCTGAAGACTGCTATGTGACAGAAGCCCTTTCCTTTGAAAACCTGTCACGTCACAACAAGAAAAAGATCTCTTTCTTTGGAGGTACATTTTTGGGCACAAGAAAGGCTTTTTAAAATTTTTTTGGCCATCTTTTTCATTGTAGGAGTCTGGTGCTTGCTGCCTAGTTTGGGAGTAGAGGAAAAGACTCTGGCTCTTTAGGGGGATAGAGATGGGAAAGGAGCATGGCCCAGCTGGGTGTATTAGCTCTCCCTCCGCTGCACTTCTGGAACCTTTCATATAAGGGCTTCAGGATAAGGGGGTTGCATAGCTTTAGGGTCTTATGGACATTTGGACCATTTGCTTCATAATCATTTTGAACTGTTTCCTTAGGCTCTTTATTGAGAAACTACCAAAACATCGAGATTACAAATCTGCTGTCATTCCTGAAAAGAAAGACACAGTAAAGGTGGGTCTTCACTTTCATTGTTGCCCATCTAAAAGCTTCAGAGCAGCACAGACTGACTTCAAGATAAAAGTAGTAGTCTCTGCATCTGAGTACCAGATCCTGCAATAGGAGATAAGGCCATTTCACCACAACAGTTCTGAAGTAGCAGGTATGGTACAGTAGGGGGTATTTTAAATCATTTTGGGAAATGTTGCAGTCACCAACTTGACTTAAGTCTTCTTTTGGATTCTGTAATTTTCTGGCATTGTTCTAATTCTATTTTCTGTTTTGTGTCTCAGAAATTAAAGGAGATTGCATTTCCCAAAGCAGAAGAGCTGAAGGCAGAGCTGTTAAAACGATATACCAAAGAATATACAGAATATAATGAAGAAAAGGTCAGTATATAACAGCTAAGAAGAAAATTATTTTGCTTTTTTAGGCTGTGCCCTGGGATTGTAATATGACATTTCAATATATCCTGTGCTTTTAATGTGCTGTTTCACCTTTTTTGGGCAAAGACCAGAAACTCAAAAAAGTAGAACACCAGTGGTTAGGCTCAGGGTTGTAACACAGATATAGCCTATTTGTCGAAGAGAGTGACTTGAGGGACAGAAAATCTGTCGCCTACCTGCTATGTCTAGAGTGAGAATCATAAGAACAATGAACATTCTCTCCAAAACATAGGTTTTTAGATCAGAGAATTTGAGGGTTGGATTCACATTTGGTTATACCTGAAGCTATTTATAAGAATTGACTTTTCAAGCTATTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCCGACTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTGACTGGGACTACAGGCATCCGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCACCCAGCCATTTCAAGCTATTTTCAAATGATTCTTTTTAGGAAGTCAGTTAAAACATGTGGAGAAACTGCCAGGGCGCTGTCAGTGGCCAGCTGTGAATACATACTGCAGCCACTCACAGGCTGTTGTGTAGCTGTCTGCTGGTCTCTATTCTGGACTCTGATGTTGAAAATCAGCAGAGGGATGAACAGCTATGAGGTATATACTTCTAAAGCACCAAGTGAGTGTAAGCTTTAAGGAGGAGGTTATTACTTAGCATTTCTTTCTTTCTTTTTTTTTTTAATCCAAATGCCTCTCAAGTATTTCTTATTAGCTTAAAATGTCACTCTGTGTTGAACAAATGCACAAAAACCATAAAAATTTCAGAGGCCTCATTTTGGGTTAAAATTCAGTAGAAGGCAAGACGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCCTGAAGTGGGTGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTCTCTACAAAAAATACAAAAATTAGTGTGGTGGCACGCACCTCTGGTTTCAGCTACTCGGGAGGCTGAGATGGGAGGATCACCTGCGCCCAGGGAGATTGAGGCTGCAGTGAGCCATGATTGACCACTACAGTCCAGCCTAGGTGACAGAGTGAGACTCTCTAAGAAAAAAAAAAAAAATTCAGTAGAGACCCCCAAGATAGCAGGTATAAGTTTGGATCTGGTTCTATTTTATAGCCTTACTTGAAATATAGAATATGTACATGACACAGAGAGAAGAATAAAACTGTCTGTGATACAGGTTAGGAGAACACAGATAGTAAGTTGCATCAAGATTTCAGGCCAGACATTGTGGCTCACACCTGGAATCCCAGCGCTTCGGGAGGCCGAGGTGGGCAGATTGTTTGAGCCCAGGAGTTCAAGACTAGCCTGGGCAACATGGCGAAACCCTGTCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTGGTCCCACCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCTGTGATCATGCCATTGCACTTCAGCCTGGGAAACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGATTTCAGTGAAGAGGAAAGTGCATTAGGTAGAGTCATTGTCGGGAGGGTATTGAGAGGATTGGGATTTTAATTGTCCTTGGAGATAGGTATACTGTGGCCAGATAGAAAGGGGTGGTGACTACACTCCGTGGGT
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TGAATCTGTATTTCTTTTAAATATAGACTTCAAGGAAACTGTTTTATATCTTTCTTTTTTTTTTTTTTTTTCCAAATAGAGATAGGATCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCAAAGCTCACTGTAACCTCAGACTTCTGGGATCGAGAGATCCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACTACAGATGCATACCACCACACCCAGCTAATTTTTGTGTTTTTTTATGTTTTGTTATATATGTTTGTGTATGTATATATATATATGTATATATATATATAAATTAAAAAATATAAATAGAGACAAGGTCTCACCCTGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCTTTTATATCTTCTTCATGAACCCAAAAGGAAGCTTTTTAAAGAACCATTTTTATTTTAGAGTCCATCCCTGCCTTGAGGAGCCTTATCAAGTTGGATCAAAATGAAACTTGTGTGCCTAATATAGAACTGAAGGATGAGGACTTATCTTTAGAAAGTTTGTTTTGGTGGGGATCATCTTTTTTCTTTATTGAGGATTCTTCTTCCAATTACTTCTGCCCCATGGGCAGTAAGTAGAAAAGAGTTTATCCCAATTACAATATAATATTTTAGAGCTATCAGCAAGCTACCTTCAATTTATTTTTTTATCTCAGTTTCTGTGTATTACAACTTAATTCTGTTAAAAGACATCTTTGTTCAGAATCCCTCCAGTAGTTCTAGACATTCCAGAATCCGTATGGAAGAAGTATGGTGTAGTGGTTAAAAGAATAGGCTCTGGAGCCAGCCTGCTCATACTGAAATTCTGAATCTGCCACTTTCTTTCTGTGACAGGTTACTGGACTTTTATTTATTTTCACTGCCCCTAAGTAGATGTCTTAAATGTTAGAGATTTGTGAATTAATTAAGTTTATTCTCCCCACTGAGCTTTAGAGCCATGGACAAGAACCAAAAGATGAAATCTAGCATCTTATATTTACCTAAGCACTTTTCATCAAAGACAGTGCATGCTAACATGTAATATGCACATACTACATGCATAGAACACATGCACTAAGTATTTCCATGCATTTTTGTATGATGCAAAGTAGTATTCTTCTTTGAAGGAACACGAATCCCAAAGGAAAAAAGCCAAAGTTAAAGGTTACATAAGAGCTAGAAGGAGTAAGGAAACATGGTTTTCTCTTGCTTCCTGCCCATGGCTGCCAAACGGTTCTCTGAAGACTGCTATGTGACAGAAGCCCTTTCCTTTGAAAACCTGTCACGTCACAACAAGAAAAAGATCTCTTTCTTTGGAGGTACATTTTTGGGCACAAGAAAGGCTTTTTAAAATTTTTTTGGCCATCTTTTTCATTGTAGGAGTCTGGTGCTTGCTGCCTAGTTTGGGAGTAGAGGAAAAGACTCTGGCTCTTTAGGGGGATAGAGATGGGAAAGGAGCATGGCCCAGCTGGGTGTATTAGCTCTCCCTCCGCTGCACTTCTGGAACCTTTCATATAAGGGCTTCAGGATAAGGGGGTTGCATAGCTTTAGGGTCTTATGGACATTTGGACCATTTGCTTCATAATCATTTTGAACTGTTTCCTTAGGCTCTTTATTGAGAAACTACCAAAACATCGAGATTACAAATCTGCTGTCATTCCTGAAAAGAAAGACACAGTAAAGGTGGGTCTTCACTTTCATTGTTGCCCATCTAAAAGCTTCAGAGCAGCACAGACTGACTTCAAGATAAAAGTAGTAGTCTCTGCATCTGAGTACCAGATCCTGCAATAGGAGATAAGGCCATTTCACCACAACAGTTCTGAAGTAGCAGGTATGGTACAGTAGGGGGTATTTTAAATCATTTTGGGAAATGTTGCAGTCACCAACTTGACTTAAGTCTTCTTTTGGATTCTGTAATTTTCTGGCATTGTTCTAATTCTATTTTCTGTTTTGTGTCTCAGAAATTAAAGGAGATTGCATATCCCAAAGCAGAAGAGCTGAAGGCAGAGCTGTTAAAACGATATACCAAAGAATATACAGAATATAATGAAGAAAAGGTCAGTATATAACAGCTAAGAAGAAAATTATTTTGCTTTTTTAGGCTGTGCCCTGGGATTGTAATATGACATTTCAATATATCCTGTGCTTTTAATGTGCTGTTTCACCTTTTTTGGGCAAAGACCAGAAACTCAAAAAAGTAGAACACCAGTGGTTAGGCTCAGGGTTGTAACACAGATATAGCCTATTTGTCGAAGAGAGTGACTTGAGGGACAGAAAATCTGTCGCCTACCTGCTATGTCTAGAGTGAGAATCATAAGAACAATGAACATTCTCTCCAAAACATAGGTTTTTAGATCAGAGAATTTGAGGGTTGGATTCACATTTGGTTATACCTGAAGCTATTTATAAGAATTGACTTTTCAAGCTATTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCCGACTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTGACTGGGACTACAGGCATCCGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCACCCAGCCATTTCAAGCTATTTTCAAATGATTCTTTTTAGGAAGTCAGTTAAAACATGTGGAGAAACTGCCAGGGCGCTGTCAGTGGCCAGCTGTGAATACATACTGCAGCCACTCACAGGCTGTTGTGTAGCTGTCTGCTGGTCTCTATTCTGGACTCTGATGTTGAAAATCAGCAGAGGGATGAACAGCTATGAGGTATATACTTCTAAAGCACCAAGTGAGTGTAAGCTTTAAGGAGGAGGTTATTACTTAGCATTTCTTTCTTTCTTTTTTTTTTTAATCCAAATGCCTCTCAAGTATTTCTTATTAGCTTAAAATGTCACTCTGTGTTGAACAAATGCACAAAAACCATAAAAATTTCAGAGGCCTCATTTTGGGTTAAAATTCAGTAGAAGGCAAGACGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCCTGAAGTGGGTGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTCTCTACAAAAAATACAAAAATTAGTGTGGTGGCACGCACCTCTGGTTTCAGCTACTCGGGAGGCTGAGATGGGAGGATCACCTGCGCCCAGGGAGATTGAGGCTGCAGTGAGCCATGATTGACCACTACAGTCCAGCCTAGGTGACAGAGTGAGACTCTCTAAGAAAAAAAAAAAAAATTCAGTAGAGACCCCCAAGATAGCAGGTATAAGTTTGGATCTGGTTCTATTTTATAGCCTTACTTGAAATATAGAATATGTACATGACACAGAGAGAAGAATAAAACTGTCTGTGATACAGGTTAGGAGAACACAGATAGTAAGTTGCATCAAGATTTCAGGCCAGACATTGTGGCTCACACCTGGAATCCCAGCGCTTCGGGAGGCCGAGGTGGGCAGATTGTTTGAGCCCAGGAGTTCAAGACTAGCCTGGGCAACATGGCGAAACCCTGTCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTGGTCCCACCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCTGTGATCATGCCATTGCACTTCAGCCTGGGAAACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGATTTCAGTGAAGAGGAAAGTGCATTAGGTAGAGTCATTGTCGGGAGGGTATTGAGAGGATTGGGATTTTAATTGTCCTTGGAGATAGGTATACTGTGGCCAGATAGAAAGGGGTGGTGACTACACTCCGTGGGT
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Task1_train_3734
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The gene STAMBP (STAM binding protein) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Microcephaly-capillary malformation syndrome
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CGCCTAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCCGACTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTGACTGGGACTACAGGCATCCGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCACCCAGCCATTTCAAGCTATTTTCAAATGATTCTTTTTAGGAAGTCAGTTAAAACATGTGGAGAAACTGCCAGGGCGCTGTCAGTGGCCAGCTGTGAATACATACTGCAGCCACTCACAGGCTGTTGTGTAGCTGTCTGCTGGTCTCTATTCTGGACTCTGATGTTGAAAATCAGCAGAGGGATGAACAGCTATGAGGTATATACTTCTAAAGCACCAAGTGAGTGTAAGCTTTAAGGAGGAGGTTATTACTTAGCATTTCTTTCTTTCTTTTTTTTTTTAATCCAAATGCCTCTCAAGTATTTCTTATTAGCTTAAAATGTCACTCTGTGTTGAACAAATGCACAAAAACCATAAAAATTTCAGAGGCCTCATTTTGGGTTAAAATTCAGTAGAAGGCAAGACGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCCTGAAGTGGGTGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTCTCTACAAAAAATACAAAAATTAGTGTGGTGGCACGCACCTCTGGTTTCAGCTACTCGGGAGGCTGAGATGGGAGGATCACCTGCGCCCAGGGAGATTGAGGCTGCAGTGAGCCATGATTGACCACTACAGTCCAGCCTAGGTGACAGAGTGAGACTCTCTAAGAAAAAAAAAAAAAATTCAGTAGAGACCCCCAAGATAGCAGGTATAAGTTTGGATCTGGTTCTATTTTATAGCCTTACTTGAAATATAGAATATGTACATGACACAGAGAGAAGAATAAAACTGTCTGTGATACAGGTTAGGAGAACACAGATAGTAAGTTGCATCAAGATTTCAGGCCAGACATTGTGGCTCACACCTGGAATCCCAGCGCTTCGGGAGGCCGAGGTGGGCAGATTGTTTGAGCCCAGGAGTTCAAGACTAGCCTGGGCAACATGGCGAAACCCTGTCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTGGTCCCACCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCTGTGATCATGCCATTGCACTTCAGCCTGGGAAACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGATTTCAGTGAAGAGGAAAGTGCATTAGGTAGAGTCATTGTCGGGAGGGTATTGAGAGGATTGGGATTTTAATTGTCCTTGGAGATAGGTATACTGTGGCCAGATAGAAAGGGGTGGTGACTACACTCCGTGGGTATAAAGATACTGAGGAAAGCATGAATTCTGTGTTAGGTAATCAGGCCACAGCAGAAGTACATTTTGGAAATCTCCATGCTAAAAAGCCTTGTTCTCCTGAAGTGTGAAGTCACTGAGGTGTGAAGTGTTAGCCTAAATTTTCTCTCTTTGTAGAAGAAGGAAGCAGAGGAATTGGCCCGGAACATGGCCATCCAGCAAGAGCTGGAAAAGGAAAAACAGAGGGTAGCACAACAGAAGCAGCAGCAATTGGAACAGGAACAGTTCCATGCCTTCGAGGAGATGATCCGGAACCAGGAGCTAGAAAAAGAGCGACTGAAAATTGTACAGGAGTTTGGGAAGGTAGACCCTGGCCTAGGTGGCCCGCTAGTGCCTGACTTGGAGAAGCCCTCCTTAGATGTGTTCCCCACCTTAACAGTCTCATCCATACAGCCTTCAGACTGTCACACAACTGTAAGGCCAGCTAAGCCACCTGTGGTGGACAGGTCCTTGAAACCTGGAGCACTGAGCAACTCAGAAAGTAGTAAGTGCATTTGCTGATGTCCTCTTCCTTCTCAGTTGCAGCCAAACAGTATCATTCTGACGGGGTCAACCTAAGATTACCTCCCTGATCCCACTCATTAAGCTTTGGTCACAGAAACCCATCTGATAAGTATTGCTGTACTGTGTCCTAATACACTGGCTATGTTATAAAAGTGGCCTTTGCTGAAACCTAGTCTGGTCGATTTTCTGAAGAGCTAATATTATTCTTGAAAGTCAGACTGTCAACTTTTTAGTGAAAGGAAAAGAATGTGCCAAACCGAATTCATAATCCTCAGATAACATCATCAGACTGCTGTGTGACTCTGTGTCCCCTGCTCTGACTTTGTTACCTCTCTAGCAATTCAGATCTTGCTGTTGAATACGCAAAAGCAGAACATCTTTCCCCTCCCACTTTTTTTTTTTAAATATGAAAATATAGCTGTGAGAGACACTTCCTAACTTTAGCTTGCTGGCTGTCTCACAGAGTTTCTCCATGGTGTTCAGAAACTGGGTCCATTCTTGGCATTTTTTATGAGCTGCTTTGTTCATGCCTTTTTTGGGGGACTACACTGTATTTTTTATTTTGTTGTGGTTTGGCATTTAACTTCTTCCAGAAGAGTAAGTTCAGAAGTAAATAACTGCCCAGATTGTTTTCCATTCTCAAGAATATACACCAGTGTATTTCTTTTAAAGTCATACTCTGATATTCTTATCTGAGATAAAAGAGATTTAAAATTAAAAGTTCAGATGAATGGGCAGTGTCTTAGTCCATTTTGTGCTGCTATAACAGAATACCTGAGGCTGGATAATTTATAATGAACATAAATTTATTTGGTTCATAGTTCTGGAGAGTGGAAAGTCCAAGACCCAGGGGCCTGGCAAAGGCCTTCTTGCTGCGTCATCCCACGACAGAAGGGTGGAAGGGCAAACAAAGATCCCTCATAGCCTCATCACCTCTTAAAGATCCTACCTCTCAATAATTTTGCATTAGGAATTAAGTTTCCAAAACATGAACTTTGGGAGACACAGTCAAACCACAGCAGGGAGGTTATTTTTTTAATTCTTTGTATTAGATTCTGACAGAAAATTCCCAAATGTTTCAAGAACTTGTGTCTTTTTCCCCCCTAAATTTTATTTTTTACTTTTATTTTTTAAGTTTTTGTGGGTACATAGTAGGTGTATGTATTTATGGGGTACATGAGATGTTTTGATACAGGCATGCAATATGAAATAAGCACATCATGGAGAATAGGGTATCCATCCCCTCAAGTATTTATCCTTTGAGTTACAAACAATCCAATTACATTCTTAAGGTTATTTTTAAGAAAACTTTTCTTAAGGTAGTAGTTTGCCCTTTTCTTAACTTGAATAATTAAAGCCTACTATTTTCTCTTCTTGAAGTAATGTGCTCCTTACAGCTGTGGCCCAAGATTGGAGAAGACACTTTACAGCCCTTTTTTTGGTGCCATTAGAATGAGATCCCTACTCACTGCCTGAAGTTGGGGGAATCCCAGTGGCTTAATGTTGCTCCTCCAGGGCTGCTGGCTGTGAGGTCTGCTTGAGGAGGCAGGGCTCAGTGGTCGCAGACTATTCTCCTTTCTCCTTTACAGTTCCCACAATCGATGGATTGCGCCATGTGGTGGTGCCTGGGCGGCTGTGCCCACAGTTTCTCCAGTTAGCCAGTGCCAACACTGCCCGGGGAGTGGAGACATGTGGAATTCTCTGTGGAAAACTGGTAAAAAGAAAAAAAAAACCAAACTCTTCTCTGAACCGAAACTGTTTCTTCCCCTCTTGGCATCCTGTGACTCTCAGAGAAAATATCCAGGGTCAGTTACTCTTTGTACCAAGGAACCGTGGACTGCATAATTTCATGTCACTTTGAATTTGGTGACCCTGTATTGATTGATTGAATTGAAGTGGTTATTTTAATGCTAGTAGTAAGAAATACCTAATTTTAAACTTGGTAGGAAGATCCAGTCATTATCTACATATCAATTTTTTTGGTACCTACTT
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CGCCTAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCCGACTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTGACTGGGACTACAGGCATCCGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCACCCAGCCATTTCAAGCTATTTTCAAATGATTCTTTTTAGGAAGTCAGTTAAAACATGTGGAGAAACTGCCAGGGCGCTGTCAGTGGCCAGCTGTGAATACATACTGCAGCCACTCACAGGCTGTTGTGTAGCTGTCTGCTGGTCTCTATTCTGGACTCTGATGTTGAAAATCAGCAGAGGGATGAACAGCTATGAGGTATATACTTCTAAAGCACCAAGTGAGTGTAAGCTTTAAGGAGGAGGTTATTACTTAGCATTTCTTTCTTTCTTTTTTTTTTTAATCCAAATGCCTCTCAAGTATTTCTTATTAGCTTAAAATGTCACTCTGTGTTGAACAAATGCACAAAAACCATAAAAATTTCAGAGGCCTCATTTTGGGTTAAAATTCAGTAGAAGGCAAGACGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCCTGAAGTGGGTGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTCTCTACAAAAAATACAAAAATTAGTGTGGTGGCACGCACCTCTGGTTTCAGCTACTCGGGAGGCTGAGATGGGAGGATCACCTGCGCCCAGGGAGATTGAGGCTGCAGTGAGCCATGATTGACCACTACAGTCCAGCCTAGGTGACAGAGTGAGACTCTCTAAGAAAAAAAAAAAAAATTCAGTAGAGACCCCCAAGATAGCAGGTATAAGTTTGGATCTGGTTCTATTTTATAGCCTTACTTGAAATATAGAATATGTACATGACACAGAGAGAAGAATAAAACTGTCTGTGATACAGGTTAGGAGAACACAGATAGTAAGTTGCATCAAGATTTCAGGCCAGACATTGTGGCTCACACCTGGAATCCCAGCGCTTCGGGAGGCCGAGGTGGGCAGATTGTTTGAGCCCAGGAGTTCAAGACTAGCCTGGGCAACATGGCGAAACCCTGTCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTGGTCCCACCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCTGTGATCATGCCATTGCACTTCAGCCTGGGAAACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGATTTCAGTGAAGAGGAAAGTGCATTAGGTAGAGTCATTGTCGGGAGGGTATTGAGAGGATTGGGATTTTAATTGTCCTTGGAGATAGGTATACTGTGGCCAGATAGAAAGGGGTGGTGACTACACTCCGTGGGTATAAAGATACTGAGGAAAGCATGAATTCTGTGTTAGGTAATCAGGCCACAGCAGAAGTACATTTTGGAAATCTCCATGCTAAAAAGCCTTGTTCTCCTGAAGTGTGAAGTCACTGAGGTGTGAAGTGTTAGCCTAAATTTTCTCTCTTTGTAGAAGAAGGAAGCAGAGGAATTGGCCCGGAACATGGCCATCCAGCAAGAGCTGGAAAAGGAAAAACAGAGGGTAGCACAACAGAAGCAGCAGCAATTGGAACAGGAACAGTTCCATGCCTTCGAGGAGATGATCCGGAACCAGGAGCTAGAAAAAGAGCGACTGAAAATTGTACAGGAGTTTGGGAAGGTAGACCCTGGCCTAGGTGGCCCGCTAGTGCCTGACTTGGAGAAGCCCTCCTTAGATGTGTTCCCCACCTTAACAGTCTCATCCATACAGCCTTCAGACTGTCACACAACTGTAAGGCCAGCTAAGCCACCTGTGGTGGACAGGTTCTTGAAACCTGGAGCACTGAGCAACTCAGAAAGTAGTAAGTGCATTTGCTGATGTCCTCTTCCTTCTCAGTTGCAGCCAAACAGTATCATTCTGACGGGGTCAACCTAAGATTACCTCCCTGATCCCACTCATTAAGCTTTGGTCACAGAAACCCATCTGATAAGTATTGCTGTACTGTGTCCTAATACACTGGCTATGTTATAAAAGTGGCCTTTGCTGAAACCTAGTCTGGTCGATTTTCTGAAGAGCTAATATTATTCTTGAAAGTCAGACTGTCAACTTTTTAGTGAAAGGAAAAGAATGTGCCAAACCGAATTCATAATCCTCAGATAACATCATCAGACTGCTGTGTGACTCTGTGTCCCCTGCTCTGACTTTGTTACCTCTCTAGCAATTCAGATCTTGCTGTTGAATACGCAAAAGCAGAACATCTTTCCCCTCCCACTTTTTTTTTTTAAATATGAAAATATAGCTGTGAGAGACACTTCCTAACTTTAGCTTGCTGGCTGTCTCACAGAGTTTCTCCATGGTGTTCAGAAACTGGGTCCATTCTTGGCATTTTTTATGAGCTGCTTTGTTCATGCCTTTTTTGGGGGACTACACTGTATTTTTTATTTTGTTGTGGTTTGGCATTTAACTTCTTCCAGAAGAGTAAGTTCAGAAGTAAATAACTGCCCAGATTGTTTTCCATTCTCAAGAATATACACCAGTGTATTTCTTTTAAAGTCATACTCTGATATTCTTATCTGAGATAAAAGAGATTTAAAATTAAAAGTTCAGATGAATGGGCAGTGTCTTAGTCCATTTTGTGCTGCTATAACAGAATACCTGAGGCTGGATAATTTATAATGAACATAAATTTATTTGGTTCATAGTTCTGGAGAGTGGAAAGTCCAAGACCCAGGGGCCTGGCAAAGGCCTTCTTGCTGCGTCATCCCACGACAGAAGGGTGGAAGGGCAAACAAAGATCCCTCATAGCCTCATCACCTCTTAAAGATCCTACCTCTCAATAATTTTGCATTAGGAATTAAGTTTCCAAAACATGAACTTTGGGAGACACAGTCAAACCACAGCAGGGAGGTTATTTTTTTAATTCTTTGTATTAGATTCTGACAGAAAATTCCCAAATGTTTCAAGAACTTGTGTCTTTTTCCCCCCTAAATTTTATTTTTTACTTTTATTTTTTAAGTTTTTGTGGGTACATAGTAGGTGTATGTATTTATGGGGTACATGAGATGTTTTGATACAGGCATGCAATATGAAATAAGCACATCATGGAGAATAGGGTATCCATCCCCTCAAGTATTTATCCTTTGAGTTACAAACAATCCAATTACATTCTTAAGGTTATTTTTAAGAAAACTTTTCTTAAGGTAGTAGTTTGCCCTTTTCTTAACTTGAATAATTAAAGCCTACTATTTTCTCTTCTTGAAGTAATGTGCTCCTTACAGCTGTGGCCCAAGATTGGAGAAGACACTTTACAGCCCTTTTTTTGGTGCCATTAGAATGAGATCCCTACTCACTGCCTGAAGTTGGGGGAATCCCAGTGGCTTAATGTTGCTCCTCCAGGGCTGCTGGCTGTGAGGTCTGCTTGAGGAGGCAGGGCTCAGTGGTCGCAGACTATTCTCCTTTCTCCTTTACAGTTCCCACAATCGATGGATTGCGCCATGTGGTGGTGCCTGGGCGGCTGTGCCCACAGTTTCTCCAGTTAGCCAGTGCCAACACTGCCCGGGGAGTGGAGACATGTGGAATTCTCTGTGGAAAACTGGTAAAAAGAAAAAAAAAACCAAACTCTTCTCTGAACCGAAACTGTTTCTTCCCCTCTTGGCATCCTGTGACTCTCAGAGAAAATATCCAGGGTCAGTTACTCTTTGTACCAAGGAACCGTGGACTGCATAATTTCATGTCACTTTGAATTTGGTGACCCTGTATTGATTGATTGAATTGAAGTGGTTATTTTAATGCTAGTAGTAAGAAATACCTAATTTTAAACTTGGTAGGAAGATCCAGTCATTATCTACATATCAATTTTTTTGGTACCTACTT
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Task1_train_3735
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This variant lies on Chromosome 2 and affects the gene STAMBP (STAM binding protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; not provided
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GATTGTTTTCCATTCTCAAGAATATACACCAGTGTATTTCTTTTAAAGTCATACTCTGATATTCTTATCTGAGATAAAAGAGATTTAAAATTAAAAGTTCAGATGAATGGGCAGTGTCTTAGTCCATTTTGTGCTGCTATAACAGAATACCTGAGGCTGGATAATTTATAATGAACATAAATTTATTTGGTTCATAGTTCTGGAGAGTGGAAAGTCCAAGACCCAGGGGCCTGGCAAAGGCCTTCTTGCTGCGTCATCCCACGACAGAAGGGTGGAAGGGCAAACAAAGATCCCTCATAGCCTCATCACCTCTTAAAGATCCTACCTCTCAATAATTTTGCATTAGGAATTAAGTTTCCAAAACATGAACTTTGGGAGACACAGTCAAACCACAGCAGGGAGGTTATTTTTTTAATTCTTTGTATTAGATTCTGACAGAAAATTCCCAAATGTTTCAAGAACTTGTGTCTTTTTCCCCCCTAAATTTTATTTTTTACTTTTATTTTTTAAGTTTTTGTGGGTACATAGTAGGTGTATGTATTTATGGGGTACATGAGATGTTTTGATACAGGCATGCAATATGAAATAAGCACATCATGGAGAATAGGGTATCCATCCCCTCAAGTATTTATCCTTTGAGTTACAAACAATCCAATTACATTCTTAAGGTTATTTTTAAGAAAACTTTTCTTAAGGTAGTAGTTTGCCCTTTTCTTAACTTGAATAATTAAAGCCTACTATTTTCTCTTCTTGAAGTAATGTGCTCCTTACAGCTGTGGCCCAAGATTGGAGAAGACACTTTACAGCCCTTTTTTTGGTGCCATTAGAATGAGATCCCTACTCACTGCCTGAAGTTGGGGGAATCCCAGTGGCTTAATGTTGCTCCTCCAGGGCTGCTGGCTGTGAGGTCTGCTTGAGGAGGCAGGGCTCAGTGGTCGCAGACTATTCTCCTTTCTCCTTTACAGTTCCCACAATCGATGGATTGCGCCATGTGGTGGTGCCTGGGCGGCTGTGCCCACAGTTTCTCCAGTTAGCCAGTGCCAACACTGCCCGGGGAGTGGAGACATGTGGAATTCTCTGTGGAAAACTGGTAAAAAGAAAAAAAAAACCAAACTCTTCTCTGAACCGAAACTGTTTCTTCCCCTCTTGGCATCCTGTGACTCTCAGAGAAAATATCCAGGGTCAGTTACTCTTTGTACCAAGGAACCGTGGACTGCATAATTTCATGTCACTTTGAATTTGGTGACCCTGTATTGATTGATTGAATTGAAGTGGTTATTTTAATGCTAGTAGTAAGAAATACCTAATTTTAAACTTGGTAGGAAGATCCAGTCATTATCTACATATCAATTTTTTTGGTACCTACTTTATGGTAGGACCTGGGAATATAAAATATGTAAAGCACATAGTATGTGTCCACGAAAAGTGCCCAGTCACTTTGGAGAGAAGGCAGACATGCACTAAAGTCTAACCAGCATGCTGAAAAATATGTACAGTATAAGTATTGGGAATTTTGAGGAAGGAAAGGTCACTGAATGGAGGCACTTAAAGAACCCATTACTGCTGAATGAATAAATAAATGAAGTAGAGTAAATGTAAGCCGAGGCTTACAGGATGAGAAGGGCTTAAGGAAACAGTGACAGGACAACAACTTTAGACCTGAGCAAGGGAAGAGAAATGGTACTCTACCCAGAGCTTCTCAGCAGAGCAGTTTGGCACAGCAGGAAATTCCCTCAGGGCTGTGGTGTTTGCCCAGGCTGCAGAGTTCTGGGGTTGGTCTCTGCATCTGTCGCTGTACAGAGTACCCCAGGCAATGTGCATCAGCAGCCAAGGTTGTGAACCACTGAGTGGCAGGACTCCTGCTGTGTGGGAAGGGCTTTCACTTGTATAGATGCTTACCTTTCCACTGTCGGGATGGAGTGGAGCAGGGTTGCATGAGCACCAGGGAATTGTGACCAGCTGTTTTCTCCTTTGGCAGATGAGGAATGAATTTACCATTACCCATGTTCTCATCCCCAAGCAAAGTGCTGGGTCTGATTACTGCAACACAGAGAACGAAGAAGAACTTTTCCTCATACAGGATCAGCAGGGCCTCATCACACTGGGCTGGATTCATGTAAGCAATTCTGAGCTGTCCGAGAGTTAGTCTCTGCCTCTCCCATGGTGGTATAAATACATGAGTGTTTCTTTGAACAAAGTCAATTATATCCAGATTATTTATTGTTTTTCTCTCTTTTGGATGCAGTCCTTAGCATACTTGACTATTGCACTTTGGTATTGTTTTCTGGGAACACTTAGGGCTTTTAAATTTTTTTAACTTTTTATTTATTTTTTAGTAAAAATAAACTGTTTTCCCTAAAGTTCCAGTTTCCCTCTGAGTGTAACTGGTGATGGGATGCTGGCCTAGAATATAAGTGGACATTGACCTTAGAGACTATGCCTACTGTGTACAGATGATGTTCCTTAAAGGTATATAATTCAAAATATTTTAAATGAGCCAAGGAGGTTAATTCAGATGCTTGCATTTGGTCTTTCTTAAAGCACCTTTATATAAACAAGAAGGGCTATAAATACACATGATTTTCAAGTGTCTGCATATCTTGTGCAGCCTTCTGGTAATGTTCAGGTAAAATATAATGCCTTCCCTAAAGATTATTTTTAAATTTTTCTTTCTATTCCTTTTCAACCCCTCACTCTCATAGCCCAAGCTGCATTTTATGCTGTATGACAGAGTTACAAATAAATTGGCTTATTCTTGGATTACACATACTTGTATGCCAGAATTTGGGAAAGACTGACCTGTGAGGCAGTCCCATGTGCCTTCTGTCCTTTCTTCTATTCAATTACATTCATGTTGATGATTTGCCTATTATTGTGTATCCCCATCCCACCCCCATTGTAGTAGATGGGGGAGAGAAAACTTGTTCCTTATCTGCCAGGGCATACAAATTTGAGTAAGGTATGATTTTAGCCTCATGAAGGAGATTAAATAAATAGACAATTAATAACTTCACCTGGGGCAGAACGTGCTAAAGGCCACAAGAGGTGCCAGCGAGGCACTGTGGAATTCAGAGGAAGGAGGGACCATGCCTGATAGGGTTTAGTAGAATGTTGGCAAGCTGGGCCAAGGGCAAGTTCCTTAAGGAGCAGACAGGTGGAGAAGAGGCGGACTCTGTCCCTGGAGCACTGGGGGGACCAGTTCACTGAGATTTATGGTTCATATCAGGAAACAGTGGTAGATTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTTTCACCCAGACTGGAGTGCAATGGCAAGATCTTGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAAGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGATTTCACCATGTTGGCCAGACTGGTCTCGAACTACTGATCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCTAGATATGTTTTAATGTAGTACATTGGAGCCGAGTTCTGGAGGGTCTGGGGTGGACAGGCAGAATTGTTCCACTTTTTAGTAAGTGGAAAATTCCTAAAGGTTTTTGAGTAGAGCAATGATATGATTAAAGCCATACTTTAGAAAATTTAACATAAATACAGTTTTAAGGTAGGTTGTGGCAAGGAGATGATTTAAGAGGTTAGTGTGCTGATAAAGCCTAATAATGATAAGAGCTAGGGTGATGCTAGTGTGTTTGGGAAGGAGGAGATGAATGTAGGATTTCAGAGGATTTGGGAAATGAGTAATAGAGGATGATGACTCAGAGTCAATGGTGACTCAGAGATTTGGGGCCTTGCAGTGATCATCTCATAAGCAAAAGTAGGGGATCCAGGAGAAGGATTTGGTTTGAAAGTGGGGTTCAGTTCTGAGCATGTTAAATTTCAGGTATTGATGAGATATTAAATCACTGGAGGTAGTTATCAGCCAGTTGGCAATGTAGGGCTAGAACTTGGGAGCAAAGTCAAAGCAGGAGAGAGGGCTCTGGGAATCCACTA
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GATTGTTTTCCATTCTCAAGAATATACACCAGTGTATTTCTTTTAAAGTCATACTCTGATATTCTTATCTGAGATAAAAGAGATTTAAAATTAAAAGTTCAGATGAATGGGCAGTGTCTTAGTCCATTTTGTGCTGCTATAACAGAATACCTGAGGCTGGATAATTTATAATGAACATAAATTTATTTGGTTCATAGTTCTGGAGAGTGGAAAGTCCAAGACCCAGGGGCCTGGCAAAGGCCTTCTTGCTGCGTCATCCCACGACAGAAGGGTGGAAGGGCAAACAAAGATCCCTCATAGCCTCATCACCTCTTAAAGATCCTACCTCTCAATAATTTTGCATTAGGAATTAAGTTTCCAAAACATGAACTTTGGGAGACACAGTCAAACCACAGCAGGGAGGTTATTTTTTTAATTCTTTGTATTAGATTCTGACAGAAAATTCCCAAATGTTTCAAGAACTTGTGTCTTTTTCCCCCCTAAATTTTATTTTTTACTTTTATTTTTTAAGTTTTTGTGGGTACATAGTAGGTGTATGTATTTATGGGGTACATGAGATGTTTTGATACAGGCATGCAATATGAAATAAGCACATCATGGAGAATAGGGTATCCATCCCCTCAAGTATTTATCCTTTGAGTTACAAACAATCCAATTACATTCTTAAGGTTATTTTTAAGAAAACTTTTCTTAAGGTAGTAGTTTGCCCTTTTCTTAACTTGAATAATTAAAGCCTACTATTTTCTCTTCTTGAAGTAATGTGCTCCTTACAGCTGTGGCCCAAGATTGGAGAAGACACTTTACAGCCCTTTTTTTGGTGCCATTAGAATGAGATCCCTACTCACTGCCTGAAGTTGGGGGAATCCCAGTGGCTTAATGTTGCTCCTCCAGGGCTGCTGGCTGTGAGGTCTGCTTGAGGAGGCAGGGCTCAGTGGTCGCAGACTATTCTCCTTTCTCCTTTACAGTTCCCACAATCGATGGATTGCGCCATGTGGTGGTGCCTGGGCGGCTGTGCCCACAGTTTCTCCAGTTAGCCAGTGCCAACACTGCCCGGGGAGTGGAGACATGTGGAATTCTCTGTGGAAAACTGGTAAAAAGAAAAAAAAAACCAAACTCTTCTCTGAACCGAAACTGTTTCTTCCCCTCTTGGCATCCTGTGACTCTCAGAGAAAATATCCAGGGTCAGTTACTCTTTGTACCAAGGAACCGTGGACTGCATAATTTCATGTCACTTTGAATTTGGTGACCCTGTATTGATTGATTGAATTGAAGTGGTTATTTTAATGCTAGTAGTAAGAAATACCTAATTTTAAACTTGGTAGGAAGATCCAGTCATTATCTACATATCAATTTTTTTGGTACCTACTTTATGGTAGGACCTGGGAATATAAAATATGTAAAGCACATAGTATGTGTCCACGAAAAGTGCCCAGTCACTTTGGAGAGAAGGCAGACATGCACTAAAGTCTAACCAGCATGCTGAAAAATATGTACAGTATAAGTATTGGGAATTTTGAGGAAGGAAAGGTCACTGAATGGAGGCACTTAAAGAACCCATTACTGCTGAATGAATAAATAAATGAAGTAGAGTAAATGTAAGCCGAGGCTTACAGGATGAGAAGGGCTTAAGGAAACAGTGACAGGACAACAACTTTAGACCTGAGCAAGGGAAGAGAAATGGTACTCTACCCAGAGCTTCTCAGCAGAGCAGTTTGGCACAGCAGGAAATTCCCTCAGGGCTGTGGTGTTTGCCCAGGCTGCAGAGTTCTGGGGTTGGTCTCTGCATCTGTCGCTGTACAGAGTACCCCAGGCAATGTGCATCAGCAGCCAAGGTTGTGAACCACTGAGTGGCAGGACTCCTGCTGTGTGGGAAGGGCTTTCACTTGTATAGATGCTTACCTTTCCACTGTCGGGATGGAGTGGAGCAGGGTTGCATGAGCACCAGGGAATTGTGACCAGCTGTTTTCTCCTTTGGCAGATGAGGAATGAATTTACCATTACCCATGTTCTCATCCCCAAGCAAAGTGCTGGGTCTGATTACTGCAACATAGAGAACGAAGAAGAACTTTTCCTCATACAGGATCAGCAGGGCCTCATCACACTGGGCTGGATTCATGTAAGCAATTCTGAGCTGTCCGAGAGTTAGTCTCTGCCTCTCCCATGGTGGTATAAATACATGAGTGTTTCTTTGAACAAAGTCAATTATATCCAGATTATTTATTGTTTTTCTCTCTTTTGGATGCAGTCCTTAGCATACTTGACTATTGCACTTTGGTATTGTTTTCTGGGAACACTTAGGGCTTTTAAATTTTTTTAACTTTTTATTTATTTTTTAGTAAAAATAAACTGTTTTCCCTAAAGTTCCAGTTTCCCTCTGAGTGTAACTGGTGATGGGATGCTGGCCTAGAATATAAGTGGACATTGACCTTAGAGACTATGCCTACTGTGTACAGATGATGTTCCTTAAAGGTATATAATTCAAAATATTTTAAATGAGCCAAGGAGGTTAATTCAGATGCTTGCATTTGGTCTTTCTTAAAGCACCTTTATATAAACAAGAAGGGCTATAAATACACATGATTTTCAAGTGTCTGCATATCTTGTGCAGCCTTCTGGTAATGTTCAGGTAAAATATAATGCCTTCCCTAAAGATTATTTTTAAATTTTTCTTTCTATTCCTTTTCAACCCCTCACTCTCATAGCCCAAGCTGCATTTTATGCTGTATGACAGAGTTACAAATAAATTGGCTTATTCTTGGATTACACATACTTGTATGCCAGAATTTGGGAAAGACTGACCTGTGAGGCAGTCCCATGTGCCTTCTGTCCTTTCTTCTATTCAATTACATTCATGTTGATGATTTGCCTATTATTGTGTATCCCCATCCCACCCCCATTGTAGTAGATGGGGGAGAGAAAACTTGTTCCTTATCTGCCAGGGCATACAAATTTGAGTAAGGTATGATTTTAGCCTCATGAAGGAGATTAAATAAATAGACAATTAATAACTTCACCTGGGGCAGAACGTGCTAAAGGCCACAAGAGGTGCCAGCGAGGCACTGTGGAATTCAGAGGAAGGAGGGACCATGCCTGATAGGGTTTAGTAGAATGTTGGCAAGCTGGGCCAAGGGCAAGTTCCTTAAGGAGCAGACAGGTGGAGAAGAGGCGGACTCTGTCCCTGGAGCACTGGGGGGACCAGTTCACTGAGATTTATGGTTCATATCAGGAAACAGTGGTAGATTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTTTCACCCAGACTGGAGTGCAATGGCAAGATCTTGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAAGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGATTTCACCATGTTGGCCAGACTGGTCTCGAACTACTGATCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCTAGATATGTTTTAATGTAGTACATTGGAGCCGAGTTCTGGAGGGTCTGGGGTGGACAGGCAGAATTGTTCCACTTTTTAGTAAGTGGAAAATTCCTAAAGGTTTTTGAGTAGAGCAATGATATGATTAAAGCCATACTTTAGAAAATTTAACATAAATACAGTTTTAAGGTAGGTTGTGGCAAGGAGATGATTTAAGAGGTTAGTGTGCTGATAAAGCCTAATAATGATAAGAGCTAGGGTGATGCTAGTGTGTTTGGGAAGGAGGAGATGAATGTAGGATTTCAGAGGATTTGGGAAATGAGTAATAGAGGATGATGACTCAGAGTCAATGGTGACTCAGAGATTTGGGGCCTTGCAGTGATCATCTCATAAGCAAAAGTAGGGGATCCAGGAGAAGGATTTGGTTTGAAAGTGGGGTTCAGTTCTGAGCATGTTAAATTTCAGGTATTGATGAGATATTAAATCACTGGAGGTAGTTATCAGCCAGTTGGCAATGTAGGGCTAGAACTTGGGAGCAAAGTCAAAGCAGGAGAGAGGGCTCTGGGAATCCACTA
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Task1_train_3736
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The gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Chronic intestinal pseudoobstruction
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CGCTTGGGCCTGGGAGGTCGAGTCTGCAGTGAACTGTGTTCTTGCCACTGTACTGCAGCTTGGGTGACAGAGCAAGACCCCATCTCAAAAAATATATATATATATATCTTCTGATTCAGCTCATTTTCTGTGCCTTTTGAGATCTTCTTGGACTTTTATTCTTTCACCCAGTGTATTTAATATTACTCTCTCCCAGCTGTTTTATCTGAAAACTTTATCAACCTGTGCTTTATATTTTCATTCAATTCATTTATAAAAATGTCACATGAGAAAGGGTCAAGAGTAGAGCCCTGGGACATATTGCTGCCTCCTCATTGACATTGACTGAGGCAGCCGCAAATATACCAAATTGTATTATTGCTTAGTACATGGCTTTATCAAGAGGGATATCCTATTCTGGACCTTGTGGGCTGGTTTAGAGAGTGAGGACTCATCTCTGGGGCTATGGGAGACATAAGGATCAGCAGAGACAGAGGCAAAGCTGGATTTAAGAAGTCACAGCAGGCCTCTCCCCTAGTATGAGCCTTGCTTTGAACATATCTGGGAAGGGCTTCCTTTTAGTCTTGAAAATGTTTACAAGCCTCTGCTCAGCATCTACCTAGCCTTCAGACCTCGCGTTCTCAGGCCTGTGGTGCTGTCTCCTCTCTGCTTCAGTATGGTCTTCTCTGTCCAGCTTCTGCATGAGGCCATCTGGGGCCAAGGGTCACAGGTTTTAGAAGTTCCCCTCTCCCCGCTCCATGCCATAGGCACCTGCAATCGCACATCCTGGATAAAACTTCAGCCGGCCTTCTCTTTATGTGCCTGGCGCCTCTCTTTTCTCTGGGTTTTTGGAAGTCTGCCTGCCCAGCCCCTCAGCTGGGGCCTTCCCCACTTCTGCCCCGCCCCACTGGGTCCTCCCAGGGTAGGAGGCAATCTCTGACTGTCTTCCGAGGCTCTGTTGCTTCTCCTTCATCACCAAATGCCAGGAATTTGTCAGATGCTGTTTGTAACTCAAAAGAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCC
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CGCTTGGGCCTGGGAGGTCGAGTCTGCAGTGAACTGTGTTCTTGCCACTGTACTGCAGCTTGGGTGACAGAGCAAGACCCCATCTCAAAAAATATATATATATATATCTTCTGATTCAGCTCATTTTCTGTGCCTTTTGAGATCTTCTTGGACTTTTATTCTTTCACCCAGTGTATTTAATATTACTCTCTCCCAGCTGTTTTATCTGAAAACTTTATCAACCTGTGCTTTATATTTTCATTCAATTCATTTATAAAAATGTCACATGAGAAAGGGTCAAGAGTAGAGCCCTGGGACATATTGCTGCCTCCTCATTGACATTGACTGAGGCAGCCGCAAATATACCAAATTGTATTATTGCTTAGTACATGGCTTTATCAAGAGGGATATCCTATTCTGGACCTTGTGGGCTGGTTTAGAGAGTGAGGACTCATCTCTGGGGCTATGGGAGACATAAGGATCAGCAGAGACAGAGGCAAAGCTGGATTTAAGAAGTCACAGCAGGCCTCTCCCCTAGTATGAGCCTTGCTTTGAACATATCTGGGAAGGGCTTCCTTTTAGTCTTGAAAATGTTTACAAGCCTCTGCTCAGCATCTACCTAGCCTTCAGACCTCGCGTTCTCAGGCCTGTGGTGCTGTCTCCTCTCTGCTTCAGTATGGTCTTCTCTGTCCAGCTTCTGCATGAGGCCATCTGGGGCCAAGGGTCACAGGTTTTAGAAGTTCCCCTCTCCCCGCTCCATGCCATAGGCACCTGCAATCGCACATCCTGGATAAAACTTCAGCCGGCCTTCTCTTTATGTGCCTGGCGCCTCTCTTTTCTCTGGGTTTTTGGAAGTCTGCCTGCCCAGCCCCTCAGCTGGGGCCTTCCCCACTTCTGCCCCGCCCCACTGGGTCCTCCCAGGGTAGGAGGCAATCTCTGACTGTCTTCCGAGGCTCTGTTGCTTCTCCTTCATCACCAAATGCCAGGAATTTGTCAGATGCTGTTTGTAACTCAAAAGAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCACCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCC
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Task1_train_3737
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Assess the clinical impact of this variant on gene ACTG2 (actin gamma 2, smooth muscle), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Visceral myopathy 1
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TTGGGCCTGGGAGGTCGAGTCTGCAGTGAACTGTGTTCTTGCCACTGTACTGCAGCTTGGGTGACAGAGCAAGACCCCATCTCAAAAAATATATATATATATATCTTCTGATTCAGCTCATTTTCTGTGCCTTTTGAGATCTTCTTGGACTTTTATTCTTTCACCCAGTGTATTTAATATTACTCTCTCCCAGCTGTTTTATCTGAAAACTTTATCAACCTGTGCTTTATATTTTCATTCAATTCATTTATAAAAATGTCACATGAGAAAGGGTCAAGAGTAGAGCCCTGGGACATATTGCTGCCTCCTCATTGACATTGACTGAGGCAGCCGCAAATATACCAAATTGTATTATTGCTTAGTACATGGCTTTATCAAGAGGGATATCCTATTCTGGACCTTGTGGGCTGGTTTAGAGAGTGAGGACTCATCTCTGGGGCTATGGGAGACATAAGGATCAGCAGAGACAGAGGCAAAGCTGGATTTAAGAAGTCACAGCAGGCCTCTCCCCTAGTATGAGCCTTGCTTTGAACATATCTGGGAAGGGCTTCCTTTTAGTCTTGAAAATGTTTACAAGCCTCTGCTCAGCATCTACCTAGCCTTCAGACCTCGCGTTCTCAGGCCTGTGGTGCTGTCTCCTCTCTGCTTCAGTATGGTCTTCTCTGTCCAGCTTCTGCATGAGGCCATCTGGGGCCAAGGGTCACAGGTTTTAGAAGTTCCCCTCTCCCCGCTCCATGCCATAGGCACCTGCAATCGCACATCCTGGATAAAACTTCAGCCGGCCTTCTCTTTATGTGCCTGGCGCCTCTCTTTTCTCTGGGTTTTTGGAAGTCTGCCTGCCCAGCCCCTCAGCTGGGGCCTTCCCCACTTCTGCCCCGCCCCACTGGGTCCTCCCAGGGTAGGAGGCAATCTCTGACTGTCTTCCGAGGCTCTGTTGCTTCTCCTTCATCACCAAATGCCAGGAATTTGTCAGATGCTGTTTGTAACTCAAAAGAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACC
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TTGGGCCTGGGAGGTCGAGTCTGCAGTGAACTGTGTTCTTGCCACTGTACTGCAGCTTGGGTGACAGAGCAAGACCCCATCTCAAAAAATATATATATATATATCTTCTGATTCAGCTCATTTTCTGTGCCTTTTGAGATCTTCTTGGACTTTTATTCTTTCACCCAGTGTATTTAATATTACTCTCTCCCAGCTGTTTTATCTGAAAACTTTATCAACCTGTGCTTTATATTTTCATTCAATTCATTTATAAAAATGTCACATGAGAAAGGGTCAAGAGTAGAGCCCTGGGACATATTGCTGCCTCCTCATTGACATTGACTGAGGCAGCCGCAAATATACCAAATTGTATTATTGCTTAGTACATGGCTTTATCAAGAGGGATATCCTATTCTGGACCTTGTGGGCTGGTTTAGAGAGTGAGGACTCATCTCTGGGGCTATGGGAGACATAAGGATCAGCAGAGACAGAGGCAAAGCTGGATTTAAGAAGTCACAGCAGGCCTCTCCCCTAGTATGAGCCTTGCTTTGAACATATCTGGGAAGGGCTTCCTTTTAGTCTTGAAAATGTTTACAAGCCTCTGCTCAGCATCTACCTAGCCTTCAGACCTCGCGTTCTCAGGCCTGTGGTGCTGTCTCCTCTCTGCTTCAGTATGGTCTTCTCTGTCCAGCTTCTGCATGAGGCCATCTGGGGCCAAGGGTCACAGGTTTTAGAAGTTCCCCTCTCCCCGCTCCATGCCATAGGCACCTGCAATCGCACATCCTGGATAAAACTTCAGCCGGCCTTCTCTTTATGTGCCTGGCGCCTCTCTTTTCTCTGGGTTTTTGGAAGTCTGCCTGCCCAGCCCCTCAGCTGGGGCCTTCCCCACTTCTGCCCCGCCCCACTGGGTCCTCCCAGGGTAGGAGGCAATCTCTGACTGTCTTCCGAGGCTCTGTTGCTTCTCCTTCATCACCAAATGCCAGGAATTTGTCAGATGCTGTTTGTAACTCAAAAGAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCTTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACC
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Task1_train_3738
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The gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Visceral myopathy 1
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CTCCTTCATCACCAAATGCCAGGAATTTGTCAGATGCTGTTTGTAACTCAAAAGAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACCCTATAAGTCTTAGTTTTCCCATTTGTAAAGTGAAGATAAAAAACACTTTGTGCATTAGGTTGCTTTGAAGATTGAATTAGCTAAATGCTTAGTATAATCCCAAGGCATGGAACATACTTATGTGCTCAATAAGTGACACATATGATTCATATATATGTAACAGTATCTAATTTAAAAACATAATAGGCCGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGGTGGATCACAAAATCAGGAGCTTGAGACCAACCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGCGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAAAAAAACCACATAATAGAGGCCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAGGCAGGAGGATAGCTTGAGGCCAGCCTGGGCAACATGGTGATACCCTATCTCTATGAAATAAAAATGTAAAAATTCACTGGGCATGGTAACACATGACTGCGGTCTCAGCTATTCAGGAGGCTGAGGCATGAGAATCACTTGAGCCCAGGTGGTGGAGGCTGCAGTGAGCTGTGTTCACGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGAAGGAAGGAAGAAAACATAATAGACAAATAATAGACAAACTATTTTATTCACAGTAGTGACAACATGTGAACTCTTTAAAGAAACCCTTAAAAATAAATTATGTGCCTTAAGGCCGGGCACAGTGGCTCATACCTG
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CTCCTTCATCACCAAATGCCAGGAATTTGTCAGATGCTGTTTGTAACTCAAAAGAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGACGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACCCTATAAGTCTTAGTTTTCCCATTTGTAAAGTGAAGATAAAAAACACTTTGTGCATTAGGTTGCTTTGAAGATTGAATTAGCTAAATGCTTAGTATAATCCCAAGGCATGGAACATACTTATGTGCTCAATAAGTGACACATATGATTCATATATATGTAACAGTATCTAATTTAAAAACATAATAGGCCGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGGTGGATCACAAAATCAGGAGCTTGAGACCAACCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGCGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAAAAAAACCACATAATAGAGGCCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAGGCAGGAGGATAGCTTGAGGCCAGCCTGGGCAACATGGTGATACCCTATCTCTATGAAATAAAAATGTAAAAATTCACTGGGCATGGTAACACATGACTGCGGTCTCAGCTATTCAGGAGGCTGAGGCATGAGAATCACTTGAGCCCAGGTGGTGGAGGCTGCAGTGAGCTGTGTTCACGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGAAGGAAGGAAGAAAACATAATAGACAAATAATAGACAAACTATTTTATTCACAGTAGTGACAACATGTGAACTCTTTAAAGAAACCCTTAAAAATAAATTATGTGCCTTAAGGCCGGGCACAGTGGCTCATACCTG
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Task1_train_3739
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Here is a genetic alteration in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Visceral myopathy 1
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GAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACCCTATAAGTCTTAGTTTTCCCATTTGTAAAGTGAAGATAAAAAACACTTTGTGCATTAGGTTGCTTTGAAGATTGAATTAGCTAAATGCTTAGTATAATCCCAAGGCATGGAACATACTTATGTGCTCAATAAGTGACACATATGATTCATATATATGTAACAGTATCTAATTTAAAAACATAATAGGCCGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGGTGGATCACAAAATCAGGAGCTTGAGACCAACCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGCGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAAAAAAACCACATAATAGAGGCCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAGGCAGGAGGATAGCTTGAGGCCAGCCTGGGCAACATGGTGATACCCTATCTCTATGAAATAAAAATGTAAAAATTCACTGGGCATGGTAACACATGACTGCGGTCTCAGCTATTCAGGAGGCTGAGGCATGAGAATCACTTGAGCCCAGGTGGTGGAGGCTGCAGTGAGCTGTGTTCACGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGAAGGAAGGAAGAAAACATAATAGACAAATAATAGACAAACTATTTTATTCACAGTAGTGACAACATGTGAACTCTTTAAAGAAACCCTTAAAAATAAATTATGTGCCTTAAGGCCGGGCACAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGTCCAGCCTG
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GAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGGGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACCCTATAAGTCTTAGTTTTCCCATTTGTAAAGTGAAGATAAAAAACACTTTGTGCATTAGGTTGCTTTGAAGATTGAATTAGCTAAATGCTTAGTATAATCCCAAGGCATGGAACATACTTATGTGCTCAATAAGTGACACATATGATTCATATATATGTAACAGTATCTAATTTAAAAACATAATAGGCCGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGGTGGATCACAAAATCAGGAGCTTGAGACCAACCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGCGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAAAAAAACCACATAATAGAGGCCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAGGCAGGAGGATAGCTTGAGGCCAGCCTGGGCAACATGGTGATACCCTATCTCTATGAAATAAAAATGTAAAAATTCACTGGGCATGGTAACACATGACTGCGGTCTCAGCTATTCAGGAGGCTGAGGCATGAGAATCACTTGAGCCCAGGTGGTGGAGGCTGCAGTGAGCTGTGTTCACGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGAAGGAAGGAAGAAAACATAATAGACAAATAATAGACAAACTATTTTATTCACAGTAGTGACAACATGTGAACTCTTTAAAGAAACCCTTAAAAATAAATTATGTGCCTTAAGGCCGGGCACAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGTCCAGCCTG
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Task1_train_3740
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Given a variant located on Chromosome 2 and affecting ACTG2 (actin gamma 2, smooth muscle), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Visceral myopathy 1
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AAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACCCTATAAGTCTTAGTTTTCCCATTTGTAAAGTGAAGATAAAAAACACTTTGTGCATTAGGTTGCTTTGAAGATTGAATTAGCTAAATGCTTAGTATAATCCCAAGGCATGGAACATACTTATGTGCTCAATAAGTGACACATATGATTCATATATATGTAACAGTATCTAATTTAAAAACATAATAGGCCGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGGTGGATCACAAAATCAGGAGCTTGAGACCAACCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGCGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAAAAAAACCACATAATAGAGGCCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAGGCAGGAGGATAGCTTGAGGCCAGCCTGGGCAACATGGTGATACCCTATCTCTATGAAATAAAAATGTAAAAATTCACTGGGCATGGTAACACATGACTGCGGTCTCAGCTATTCAGGAGGCTGAGGCATGAGAATCACTTGAGCCCAGGTGGTGGAGGCTGCAGTGAGCTGTGTTCACGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGAAGGAAGGAAGAAAACATAATAGACAAATAATAGACAAACTATTTTATTCACAGTAGTGACAACATGTGAACTCTTTAAAGAAACCCTTAAAAATAAATTATGTGCCTTAAGGCCGGGCACAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGTCCAGCCTGG
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AAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCAAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACCCTATAAGTCTTAGTTTTCCCATTTGTAAAGTGAAGATAAAAAACACTTTGTGCATTAGGTTGCTTTGAAGATTGAATTAGCTAAATGCTTAGTATAATCCCAAGGCATGGAACATACTTATGTGCTCAATAAGTGACACATATGATTCATATATATGTAACAGTATCTAATTTAAAAACATAATAGGCCGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGGTGGATCACAAAATCAGGAGCTTGAGACCAACCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGCGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAAAAAAACCACATAATAGAGGCCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAGGCAGGAGGATAGCTTGAGGCCAGCCTGGGCAACATGGTGATACCCTATCTCTATGAAATAAAAATGTAAAAATTCACTGGGCATGGTAACACATGACTGCGGTCTCAGCTATTCAGGAGGCTGAGGCATGAGAATCACTTGAGCCCAGGTGGTGGAGGCTGCAGTGAGCTGTGTTCACGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGAAGGAAGGAAGAAAACATAATAGACAAATAATAGACAAACTATTTTATTCACAGTAGTGACAACATGTGAACTCTTTAAAGAAACCCTTAAAAATAAATTATGTGCCTTAAGGCCGGGCACAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGTCCAGCCTGG
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Task1_train_3741
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The gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Visceral myopathy 1
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TGCCATTCCCTCTGCCTCGGATGCCTTTTGCAGCAGCCTCTGGAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGGAAACCAAAGCCCCATGTCCCTGCTACACTTTGCCCAATCCCTCTGAAAGACTCCTTTTTGGTCGTACTTGATCACTGAAGAAGGAACTGGACACAGGAAGAAATTAACTTCCTCTAAAACAGTGGTTCTTTTTTATTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCATGATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCCCAGCCTCCTGAGTAGCTGAGATTACAGGCAGGCGCTACCATGCCTGGCTAATTTTTTATCTTTTTGTAGAGACAGGCCCACAGTGTGTTGCCCAGGCTAAGCGGTGGTTCTTAACCAGGATGATTTTGCTTCCCAAAGGACATTTGGCAATGTCTGCAGACATTTTTTATTGTCACAACTGGAAAACTGCTGCTAGCATCCAGTGGGTGGAGACCAGGGATACTGGTCGGCCCTCCACAACAAAGAATTATCCAACCTAAAATGTCATAGAGCTGCGATTGAGAAACCCTGCTTTAAAGCACCAGCCTGGCCAATAATAGCCAGTGAAAATTGAGCCCAAGTGCCTCTGTCAGATTCTCAGCAGGAGATAGTGTACACTCAGCTGCGGTTTTGAAATTGTTTGACAGTGTATACTCAGCTGGGGTTTTACAACTGGTTAAATGAATGTCCTACAGAAATGTGCATAGGGTTAAGGCAACTACAAAGGGATGTCGAGGCACCCAAGAGCCAGCAACAGAGGGAGCTCTCACACCCCTAAACATGAAGGGGTCAGGTGACGAGGGCAGTGTCATTGGAGCTTAGTGAGAGCTTGAGCTCTGAAAGAGGGGCTGCCCAACAGGAACTGTGCTCATGGAGGGCCACGCCATTGTCAGGAGATAGACCCTGACTTCTTTTGCCCTCCTACTTTCCAGCCTCTTGCAGGAATCTTCTATCAGCCAAATATAGCCAGAAGCCAGAAAGCAATGAACACTTGAGTGATACAATGTGCCTTGCATCACTCAGTGCACAAAGGCAGGGGAGAGACTGTAGGAGAGTGAAGAGGAGGGAAGGTCAAATGGAAATAATGAACACATAGAAAATACTGGTTCCAGGTCTGAGTCCTACCTGGGGCCCTGTTGAGAAGGAGTATACCCTTTAAATGTCAATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCCCATCCTGTGTAACATGGTGCCACACTCTCCCAGCATGGGAATGTCAATGAGAATTTTCCAGCCATTGGGAGTCTGCCAGGCTCATATGGCTTTTGTCTCCACTAGATCTGGCACCACTCCTTCTACAATGAGCTGCGTGTAGCACCTGAAGAGCACCCCACCCTGCTCACAGAGGCTCCCCTAAATCCCAAGGCCAACAGGGAAAAGATGACCCAGGTAAGAAGCCAGGAAGACTTGAACACTGGCATAAGAATGCAACATGGATGCTTGGCCAGATACTTTCTCCCCTTCAAACATCAGTGCAACAGAACTCTCTGAGGACCTGCTATGTCTGTGGTCCATGCCAGGCCCTGGGGGAGTGGGTGTGGAATAATGAACTATCAAACTGGCATAGTTCCTGCCCTTAATGAGATTACAAACCATTCTACAGGCCAAGAAGTGCTGTGATTTTTGCCAAATAATCTTTTATTCTTCATTGTCCTTTAAGATCATGTTTGAAACCTTCAATGTCCCTGCCATGTACGTCGCCATTCAAGCTGTGCTCTCCCTCTATGCCTCTGGCCGCACGACAGGTGAGTAATCCTGTAATCCATTCCTTTTCTGACTTCAGGGGAGGTAGGGAAAAGCTGGGGTCTGGCAGAGGCTCCTGCTCAGAAGAATCAAATGGACAGCTGAAGTCCAGGCAAAATCTTTCTTAGGGATAATAGGTGAGAATGCCCATGTGGAATGCCAGATGTGAGCCTAGCTGGTATAGTTGGAAAAAACATCCAGCAAGAACTGTTTCCCTCACAGTAATAATTCCAGGAGCTTCTACACATACACACATTCCAACAATACTGGAATGTTTCTGCTTCATGAAGCAGAAAGAGTAGAACCTGTGGTGGTGGAAATGTAAGTGCAGTTACACATTGCTTAATGACAGGGATACGTTCCGAGAAATGTGTGTCATTAGGTGACTTTGTCACTGTGGGAACATCAGAGAGTGTACTTGCACAAACCTAGACGCTGTAGCCTACTACATGCCCCGGCTGTATGGCGTGGCCTATTGCTTCCAGGCTACAGACAGTATAGCATTTAACTATAATTAATACTGTAGGGAACTGTAACAGAATGGTTAGGTATTTGTATAGCTAAACATATTGAAACATAGAAAAGTTACAGTGAAAATATAATATCAAAGATAAAAAATGGTACACCTGTGTAGGGCACTTACATGAATGGAGCTTGCAAGACTAGAAGTTGCTCTGGGTGGGTTAGTGAGTGAGTAGTGAGAAAATGTGAAGACCTAAAATGTTACTGTGTACTACTGTAGACTATAAACACTGTACACATCGGCTGTACTACATTTATAAAAATATTATTCTTGGCCAGGCACAGTGGCTCACACCTGAAATCCCAGCACTTTGTGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGACGTGGTGTCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAGTCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCCCTCCAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAATATGTATATATATATATTATTCTTTCTTCAATAATAAATTAACCTTAGCTTACTGTAATGTTTTTTACCTTATAAACTTTTTAATTTTTAAAGCCATTTTTACTTTTTTTGTAGTGACAGTAATAGAAAAACATCTTTTTTCGACTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCACCAGGCTGGAGTGCAGTAGCGTGATCTCGGCTCATTGCAACCTCTGTCTCCCACGTTCAAACGATTCTCCTGCCTCAGCCTCCCATGACTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCATGCCTCAAACTCCCAAGTAGCTGGGACTACAGGAGCGTGCCACCATGCCTGGCTTATTTTTGTCTTTATTTAGTAGAGAAAAAAAAGGAGTACACCCTTTAAATGTCGATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCTCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGATCATCACCCCCAGCCAAAAATAGTTTCATTTATATCCTTTATTCTACAAGCTTTTTTCTATTAAATTTATTTTATTTTATTTTTTACTTTTAGAGCTTTTTTGATAAAAACTAAAATATACACATTAGCCTCGGCCTACACAGGTTCAGGATCATCAATACCACTGTATTTCATCTCCACATCTTGGCCCACTGGAAGGTCTTCAGGGTTAATAACATGCATGGAGCTGTCATCTCCTATGATAACAATACCTCCTTCTGGAATATCTCCGGAAGGACCTGCCTAAGG
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TGCCATTCCCTCTGCCTCGGATGCCTTTTGCAGCAGCCTCTGGAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGGAAACCAAAGCCCCATGTCCCTGCTACACTTTGCCCAATCCCTCTGAAAGACTCCTTTTTGGTCGTACTTGATCACTGAAGAAGGAACTGGACACAGGAAGAAATTAACTTCCTCTAAAACAGTGGTTCTTTTTTATTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCATGATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCCCAGCCTCCTGAGTAGCTGAGATTACAGGCAGGCGCTACCATGCCTGGCTAATTTTTTATCTTTTTGTAGAGACAGGCCCACAGTGTGTTGCCCAGGCTAAGCGGTGGTTCTTAACCAGGATGATTTTGCTTCCCAAAGGACATTTGGCAATGTCTGCAGACATTTTTTATTGTCACAACTGGAAAACTGCTGCTAGCATCCAGTGGGTGGAGACCAGGGATACTGGTCGGCCCTCCACAACAAAGAATTATCCAACCTAAAATGTCATAGAGCTGCGATTGAGAAACCCTGCTTTAAAGCACCAGCCTGGCCAATAATAGCCAGTGAAAATTGAGCCCAAGTGCCTCTGTCAGATTCTCAGCAGGAGATAGTGTACACTCAGCTGCGGTTTTGAAATTGTTTGACAGTGTATACTCAGCTGGGGTTTTACAACTGGTTAAATGAATGTCCTACAGAAATGTGCATAGGGTTAAGGCAACTACAAAGGGATGTCGAGGCACCCAAGAGCCAGCAACAGAGGGAGCTCTCACACCCCTAAACATGAAGGGGTCAGGTGACGAGGGCAGTGTCATTGGAGCTTAGTGAGAGCTTGAGCTCTGAAAGAGGGGCTGCCCAACAGGAACTGTGCTCATGGAGGGCCACGCCATTGTCAGGAGATAGACCCTGACTTCTTTTGCCCTCCTACTTTCCAGCCTCTTGCAGGAATCTTCTATCAGCCAAATATAGCCAGAAGCCAGAAAGCAATGAACACTTGAGTGATACAATGTGCCTTGCATCACTCAGTGCACAAAGGCAGGGGAGAGACTGTAGGAGAGTGAAGAGGAGGGAAGGTCAAATGGAAATAATGAACACATAGAAAATACTGGTTCCAGGTCTGAGTCCTACCTGGGGCCCTGTTGAGAAGGAGTATACCCTTTAAATGTCAATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCCCATCCTGTGTAACATGGTGCCACACTCTCCCAGCATGGGAATGTCAATGAGAATTTTCCAGCCATTGGGAGTCTGCCAGGCTCATATGGCTTTTGTCTCCACTAGATCTGGCACCACTCCTTCTACAATGAGCTGCGTGTAGCACCTGAAGAGCACCCCACCCTGCTCACAGAGGCTCCCCTAAATCCCAAGGCCAACAGGGAAAAGATGACCCAGGTAAGAAGCCAGGAAGACTTGAACACTGGCATAAGAATGCAACATGGATGCTTGGCCAGATACTTTCTCCCCTTCAAACATCAGTGCAACAGAACTCTCTGAGGACCTGCTATGTCTGTGGTCCATGCCAGGCCCTGGGGGAGTGGGTGTGGAATAATGAACTATCAAACTGGCATAGTTCCTGCCCTTAATGAGATTACAAACCATTCTACAGGCCAAGAAGTGCTGTGATTTTTGCCAAATAATCTTTTATTCTTCATTGTCCTTTAAGATCATGTTTGAAACCTTCAATGTCCCTGCCATGAACGTCGCCATTCAAGCTGTGCTCTCCCTCTATGCCTCTGGCCGCACGACAGGTGAGTAATCCTGTAATCCATTCCTTTTCTGACTTCAGGGGAGGTAGGGAAAAGCTGGGGTCTGGCAGAGGCTCCTGCTCAGAAGAATCAAATGGACAGCTGAAGTCCAGGCAAAATCTTTCTTAGGGATAATAGGTGAGAATGCCCATGTGGAATGCCAGATGTGAGCCTAGCTGGTATAGTTGGAAAAAACATCCAGCAAGAACTGTTTCCCTCACAGTAATAATTCCAGGAGCTTCTACACATACACACATTCCAACAATACTGGAATGTTTCTGCTTCATGAAGCAGAAAGAGTAGAACCTGTGGTGGTGGAAATGTAAGTGCAGTTACACATTGCTTAATGACAGGGATACGTTCCGAGAAATGTGTGTCATTAGGTGACTTTGTCACTGTGGGAACATCAGAGAGTGTACTTGCACAAACCTAGACGCTGTAGCCTACTACATGCCCCGGCTGTATGGCGTGGCCTATTGCTTCCAGGCTACAGACAGTATAGCATTTAACTATAATTAATACTGTAGGGAACTGTAACAGAATGGTTAGGTATTTGTATAGCTAAACATATTGAAACATAGAAAAGTTACAGTGAAAATATAATATCAAAGATAAAAAATGGTACACCTGTGTAGGGCACTTACATGAATGGAGCTTGCAAGACTAGAAGTTGCTCTGGGTGGGTTAGTGAGTGAGTAGTGAGAAAATGTGAAGACCTAAAATGTTACTGTGTACTACTGTAGACTATAAACACTGTACACATCGGCTGTACTACATTTATAAAAATATTATTCTTGGCCAGGCACAGTGGCTCACACCTGAAATCCCAGCACTTTGTGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGACGTGGTGTCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAGTCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCCCTCCAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAATATGTATATATATATATTATTCTTTCTTCAATAATAAATTAACCTTAGCTTACTGTAATGTTTTTTACCTTATAAACTTTTTAATTTTTAAAGCCATTTTTACTTTTTTTGTAGTGACAGTAATAGAAAAACATCTTTTTTCGACTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCACCAGGCTGGAGTGCAGTAGCGTGATCTCGGCTCATTGCAACCTCTGTCTCCCACGTTCAAACGATTCTCCTGCCTCAGCCTCCCATGACTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCATGCCTCAAACTCCCAAGTAGCTGGGACTACAGGAGCGTGCCACCATGCCTGGCTTATTTTTGTCTTTATTTAGTAGAGAAAAAAAAGGAGTACACCCTTTAAATGTCGATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCTCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGATCATCACCCCCAGCCAAAAATAGTTTCATTTATATCCTTTATTCTACAAGCTTTTTTCTATTAAATTTATTTTATTTTATTTTTTACTTTTAGAGCTTTTTTGATAAAAACTAAAATATACACATTAGCCTCGGCCTACACAGGTTCAGGATCATCAATACCACTGTATTTCATCTCCACATCTTGGCCCACTGGAAGGTCTTCAGGGTTAATAACATGCATGGAGCTGTCATCTCCTATGATAACAATACCTCCTTCTGGAATATCTCCGGAAGGACCTGCCTAAGG
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Task1_train_3742
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Mutation context: Chromosome 2, Gene ACTG2 (actin gamma 2, smooth muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
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TGCCATTCCCTCTGCCTCGGATGCCTTTTGCAGCAGCCTCTGGAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGGAAACCAAAGCCCCATGTCCCTGCTACACTTTGCCCAATCCCTCTGAAAGACTCCTTTTTGGTCGTACTTGATCACTGAAGAAGGAACTGGACACAGGAAGAAATTAACTTCCTCTAAAACAGTGGTTCTTTTTTATTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCATGATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCCCAGCCTCCTGAGTAGCTGAGATTACAGGCAGGCGCTACCATGCCTGGCTAATTTTTTATCTTTTTGTAGAGACAGGCCCACAGTGTGTTGCCCAGGCTAAGCGGTGGTTCTTAACCAGGATGATTTTGCTTCCCAAAGGACATTTGGCAATGTCTGCAGACATTTTTTATTGTCACAACTGGAAAACTGCTGCTAGCATCCAGTGGGTGGAGACCAGGGATACTGGTCGGCCCTCCACAACAAAGAATTATCCAACCTAAAATGTCATAGAGCTGCGATTGAGAAACCCTGCTTTAAAGCACCAGCCTGGCCAATAATAGCCAGTGAAAATTGAGCCCAAGTGCCTCTGTCAGATTCTCAGCAGGAGATAGTGTACACTCAGCTGCGGTTTTGAAATTGTTTGACAGTGTATACTCAGCTGGGGTTTTACAACTGGTTAAATGAATGTCCTACAGAAATGTGCATAGGGTTAAGGCAACTACAAAGGGATGTCGAGGCACCCAAGAGCCAGCAACAGAGGGAGCTCTCACACCCCTAAACATGAAGGGGTCAGGTGACGAGGGCAGTGTCATTGGAGCTTAGTGAGAGCTTGAGCTCTGAAAGAGGGGCTGCCCAACAGGAACTGTGCTCATGGAGGGCCACGCCATTGTCAGGAGATAGACCCTGACTTCTTTTGCCCTCCTACTTTCCAGCCTCTTGCAGGAATCTTCTATCAGCCAAATATAGCCAGAAGCCAGAAAGCAATGAACACTTGAGTGATACAATGTGCCTTGCATCACTCAGTGCACAAAGGCAGGGGAGAGACTGTAGGAGAGTGAAGAGGAGGGAAGGTCAAATGGAAATAATGAACACATAGAAAATACTGGTTCCAGGTCTGAGTCCTACCTGGGGCCCTGTTGAGAAGGAGTATACCCTTTAAATGTCAATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCCCATCCTGTGTAACATGGTGCCACACTCTCCCAGCATGGGAATGTCAATGAGAATTTTCCAGCCATTGGGAGTCTGCCAGGCTCATATGGCTTTTGTCTCCACTAGATCTGGCACCACTCCTTCTACAATGAGCTGCGTGTAGCACCTGAAGAGCACCCCACCCTGCTCACAGAGGCTCCCCTAAATCCCAAGGCCAACAGGGAAAAGATGACCCAGGTAAGAAGCCAGGAAGACTTGAACACTGGCATAAGAATGCAACATGGATGCTTGGCCAGATACTTTCTCCCCTTCAAACATCAGTGCAACAGAACTCTCTGAGGACCTGCTATGTCTGTGGTCCATGCCAGGCCCTGGGGGAGTGGGTGTGGAATAATGAACTATCAAACTGGCATAGTTCCTGCCCTTAATGAGATTACAAACCATTCTACAGGCCAAGAAGTGCTGTGATTTTTGCCAAATAATCTTTTATTCTTCATTGTCCTTTAAGATCATGTTTGAAACCTTCAATGTCCCTGCCATGTACGTCGCCATTCAAGCTGTGCTCTCCCTCTATGCCTCTGGCCGCACGACAGGTGAGTAATCCTGTAATCCATTCCTTTTCTGACTTCAGGGGAGGTAGGGAAAAGCTGGGGTCTGGCAGAGGCTCCTGCTCAGAAGAATCAAATGGACAGCTGAAGTCCAGGCAAAATCTTTCTTAGGGATAATAGGTGAGAATGCCCATGTGGAATGCCAGATGTGAGCCTAGCTGGTATAGTTGGAAAAAACATCCAGCAAGAACTGTTTCCCTCACAGTAATAATTCCAGGAGCTTCTACACATACACACATTCCAACAATACTGGAATGTTTCTGCTTCATGAAGCAGAAAGAGTAGAACCTGTGGTGGTGGAAATGTAAGTGCAGTTACACATTGCTTAATGACAGGGATACGTTCCGAGAAATGTGTGTCATTAGGTGACTTTGTCACTGTGGGAACATCAGAGAGTGTACTTGCACAAACCTAGACGCTGTAGCCTACTACATGCCCCGGCTGTATGGCGTGGCCTATTGCTTCCAGGCTACAGACAGTATAGCATTTAACTATAATTAATACTGTAGGGAACTGTAACAGAATGGTTAGGTATTTGTATAGCTAAACATATTGAAACATAGAAAAGTTACAGTGAAAATATAATATCAAAGATAAAAAATGGTACACCTGTGTAGGGCACTTACATGAATGGAGCTTGCAAGACTAGAAGTTGCTCTGGGTGGGTTAGTGAGTGAGTAGTGAGAAAATGTGAAGACCTAAAATGTTACTGTGTACTACTGTAGACTATAAACACTGTACACATCGGCTGTACTACATTTATAAAAATATTATTCTTGGCCAGGCACAGTGGCTCACACCTGAAATCCCAGCACTTTGTGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGACGTGGTGTCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAGTCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCCCTCCAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAATATGTATATATATATATTATTCTTTCTTCAATAATAAATTAACCTTAGCTTACTGTAATGTTTTTTACCTTATAAACTTTTTAATTTTTAAAGCCATTTTTACTTTTTTTGTAGTGACAGTAATAGAAAAACATCTTTTTTCGACTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCACCAGGCTGGAGTGCAGTAGCGTGATCTCGGCTCATTGCAACCTCTGTCTCCCACGTTCAAACGATTCTCCTGCCTCAGCCTCCCATGACTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCATGCCTCAAACTCCCAAGTAGCTGGGACTACAGGAGCGTGCCACCATGCCTGGCTTATTTTTGTCTTTATTTAGTAGAGAAAAAAAAGGAGTACACCCTTTAAATGTCGATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCTCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGATCATCACCCCCAGCCAAAAATAGTTTCATTTATATCCTTTATTCTACAAGCTTTTTTCTATTAAATTTATTTTATTTTATTTTTTACTTTTAGAGCTTTTTTGATAAAAACTAAAATATACACATTAGCCTCGGCCTACACAGGTTCAGGATCATCAATACCACTGTATTTCATCTCCACATCTTGGCCCACTGGAAGGTCTTCAGGGTTAATAACATGCATGGAGCTGTCATCTCCTATGATAACAATACCTCCTTCTGGAATATCTCCGGAAGGACCTGCCTAAGG
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TGCCATTCCCTCTGCCTCGGATGCCTTTTGCAGCAGCCTCTGGAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGGAAACCAAAGCCCCATGTCCCTGCTACACTTTGCCCAATCCCTCTGAAAGACTCCTTTTTGGTCGTACTTGATCACTGAAGAAGGAACTGGACACAGGAAGAAATTAACTTCCTCTAAAACAGTGGTTCTTTTTTATTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCATGATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCCCAGCCTCCTGAGTAGCTGAGATTACAGGCAGGCGCTACCATGCCTGGCTAATTTTTTATCTTTTTGTAGAGACAGGCCCACAGTGTGTTGCCCAGGCTAAGCGGTGGTTCTTAACCAGGATGATTTTGCTTCCCAAAGGACATTTGGCAATGTCTGCAGACATTTTTTATTGTCACAACTGGAAAACTGCTGCTAGCATCCAGTGGGTGGAGACCAGGGATACTGGTCGGCCCTCCACAACAAAGAATTATCCAACCTAAAATGTCATAGAGCTGCGATTGAGAAACCCTGCTTTAAAGCACCAGCCTGGCCAATAATAGCCAGTGAAAATTGAGCCCAAGTGCCTCTGTCAGATTCTCAGCAGGAGATAGTGTACACTCAGCTGCGGTTTTGAAATTGTTTGACAGTGTATACTCAGCTGGGGTTTTACAACTGGTTAAATGAATGTCCTACAGAAATGTGCATAGGGTTAAGGCAACTACAAAGGGATGTCGAGGCACCCAAGAGCCAGCAACAGAGGGAGCTCTCACACCCCTAAACATGAAGGGGTCAGGTGACGAGGGCAGTGTCATTGGAGCTTAGTGAGAGCTTGAGCTCTGAAAGAGGGGCTGCCCAACAGGAACTGTGCTCATGGAGGGCCACGCCATTGTCAGGAGATAGACCCTGACTTCTTTTGCCCTCCTACTTTCCAGCCTCTTGCAGGAATCTTCTATCAGCCAAATATAGCCAGAAGCCAGAAAGCAATGAACACTTGAGTGATACAATGTGCCTTGCATCACTCAGTGCACAAAGGCAGGGGAGAGACTGTAGGAGAGTGAAGAGGAGGGAAGGTCAAATGGAAATAATGAACACATAGAAAATACTGGTTCCAGGTCTGAGTCCTACCTGGGGCCCTGTTGAGAAGGAGTATACCCTTTAAATGTCAATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCCCATCCTGTGTAACATGGTGCCACACTCTCCCAGCATGGGAATGTCAATGAGAATTTTCCAGCCATTGGGAGTCTGCCAGGCTCATATGGCTTTTGTCTCCACTAGATCTGGCACCACTCCTTCTACAATGAGCTGCGTGTAGCACCTGAAGAGCACCCCACCCTGCTCACAGAGGCTCCCCTAAATCCCAAGGCCAACAGGGAAAAGATGACCCAGGTAAGAAGCCAGGAAGACTTGAACACTGGCATAAGAATGCAACATGGATGCTTGGCCAGATACTTTCTCCCCTTCAAACATCAGTGCAACAGAACTCTCTGAGGACCTGCTATGTCTGTGGTCCATGCCAGGCCCTGGGGGAGTGGGTGTGGAATAATGAACTATCAAACTGGCATAGTTCCTGCCCTTAATGAGATTACAAACCATTCTACAGGCCAAGAAGTGCTGTGATTTTTGCCAAATAATCTTTTATTCTTCATTGTCCTTTAAGATCATGTTTGAAACCTTCAATGTCCCTGCCATGAACGTCGCCATTCAAGCTGTGCTCTCCCTCTATGCCTCTGGCCGCACGACAGGTGAGTAATCCTGTAATCCATTCCTTTTCTGACTTCAGGGGAGGTAGGGAAAAGCTGGGGTCTGGCAGAGGCTCCTGCTCAGAAGAATCAAATGGACAGCTGAAGTCCAGGCAAAATCTTTCTTAGGGATAATAGGTGAGAATGCCCATGTGGAATGCCAGATGTGAGCCTAGCTGGTATAGTTGGAAAAAACATCCAGCAAGAACTGTTTCCCTCACAGTAATAATTCCAGGAGCTTCTACACATACACACATTCCAACAATACTGGAATGTTTCTGCTTCATGAAGCAGAAAGAGTAGAACCTGTGGTGGTGGAAATGTAAGTGCAGTTACACATTGCTTAATGACAGGGATACGTTCCGAGAAATGTGTGTCATTAGGTGACTTTGTCACTGTGGGAACATCAGAGAGTGTACTTGCACAAACCTAGACGCTGTAGCCTACTACATGCCCCGGCTGTATGGCGTGGCCTATTGCTTCCAGGCTACAGACAGTATAGCATTTAACTATAATTAATACTGTAGGGAACTGTAACAGAATGGTTAGGTATTTGTATAGCTAAACATATTGAAACATAGAAAAGTTACAGTGAAAATATAATATCAAAGATAAAAAATGGTACACCTGTGTAGGGCACTTACATGAATGGAGCTTGCAAGACTAGAAGTTGCTCTGGGTGGGTTAGTGAGTGAGTAGTGAGAAAATGTGAAGACCTAAAATGTTACTGTGTACTACTGTAGACTATAAACACTGTACACATCGGCTGTACTACATTTATAAAAATATTATTCTTGGCCAGGCACAGTGGCTCACACCTGAAATCCCAGCACTTTGTGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGACGTGGTGTCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAGTCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCCCTCCAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAATATGTATATATATATATTATTCTTTCTTCAATAATAAATTAACCTTAGCTTACTGTAATGTTTTTTACCTTATAAACTTTTTAATTTTTAAAGCCATTTTTACTTTTTTTGTAGTGACAGTAATAGAAAAACATCTTTTTTCGACTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCACCAGGCTGGAGTGCAGTAGCGTGATCTCGGCTCATTGCAACCTCTGTCTCCCACGTTCAAACGATTCTCCTGCCTCAGCCTCCCATGACTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCATGCCTCAAACTCCCAAGTAGCTGGGACTACAGGAGCGTGCCACCATGCCTGGCTTATTTTTGTCTTTATTTAGTAGAGAAAAAAAAGGAGTACACCCTTTAAATGTCGATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCTCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGATCATCACCCCCAGCCAAAAATAGTTTCATTTATATCCTTTATTCTACAAGCTTTTTTCTATTAAATTTATTTTATTTTATTTTTTACTTTTAGAGCTTTTTTGATAAAAACTAAAATATACACATTAGCCTCGGCCTACACAGGTTCAGGATCATCAATACCACTGTATTTCATCTCCACATCTTGGCCCACTGGAAGGTCTTCAGGGTTAATAACATGCATGGAGCTGTCATCTCCTATGATAACAATACCTCCTTCTGGAATATCTCCGGAAGGACCTGCCTAAGG
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Task1_train_3743
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Gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Visceral myopathy 1
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GAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGGAAACCAAAGCCCCATGTCCCTGCTACACTTTGCCCAATCCCTCTGAAAGACTCCTTTTTGGTCGTACTTGATCACTGAAGAAGGAACTGGACACAGGAAGAAATTAACTTCCTCTAAAACAGTGGTTCTTTTTTATTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCATGATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCCCAGCCTCCTGAGTAGCTGAGATTACAGGCAGGCGCTACCATGCCTGGCTAATTTTTTATCTTTTTGTAGAGACAGGCCCACAGTGTGTTGCCCAGGCTAAGCGGTGGTTCTTAACCAGGATGATTTTGCTTCCCAAAGGACATTTGGCAATGTCTGCAGACATTTTTTATTGTCACAACTGGAAAACTGCTGCTAGCATCCAGTGGGTGGAGACCAGGGATACTGGTCGGCCCTCCACAACAAAGAATTATCCAACCTAAAATGTCATAGAGCTGCGATTGAGAAACCCTGCTTTAAAGCACCAGCCTGGCCAATAATAGCCAGTGAAAATTGAGCCCAAGTGCCTCTGTCAGATTCTCAGCAGGAGATAGTGTACACTCAGCTGCGGTTTTGAAATTGTTTGACAGTGTATACTCAGCTGGGGTTTTACAACTGGTTAAATGAATGTCCTACAGAAATGTGCATAGGGTTAAGGCAACTACAAAGGGATGTCGAGGCACCCAAGAGCCAGCAACAGAGGGAGCTCTCACACCCCTAAACATGAAGGGGTCAGGTGACGAGGGCAGTGTCATTGGAGCTTAGTGAGAGCTTGAGCTCTGAAAGAGGGGCTGCCCAACAGGAACTGTGCTCATGGAGGGCCACGCCATTGTCAGGAGATAGACCCTGACTTCTTTTGCCCTCCTACTTTCCAGCCTCTTGCAGGAATCTTCTATCAGCCAAATATAGCCAGAAGCCAGAAAGCAATGAACACTTGAGTGATACAATGTGCCTTGCATCACTCAGTGCACAAAGGCAGGGGAGAGACTGTAGGAGAGTGAAGAGGAGGGAAGGTCAAATGGAAATAATGAACACATAGAAAATACTGGTTCCAGGTCTGAGTCCTACCTGGGGCCCTGTTGAGAAGGAGTATACCCTTTAAATGTCAATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCCCATCCTGTGTAACATGGTGCCACACTCTCCCAGCATGGGAATGTCAATGAGAATTTTCCAGCCATTGGGAGTCTGCCAGGCTCATATGGCTTTTGTCTCCACTAGATCTGGCACCACTCCTTCTACAATGAGCTGCGTGTAGCACCTGAAGAGCACCCCACCCTGCTCACAGAGGCTCCCCTAAATCCCAAGGCCAACAGGGAAAAGATGACCCAGGTAAGAAGCCAGGAAGACTTGAACACTGGCATAAGAATGCAACATGGATGCTTGGCCAGATACTTTCTCCCCTTCAAACATCAGTGCAACAGAACTCTCTGAGGACCTGCTATGTCTGTGGTCCATGCCAGGCCCTGGGGGAGTGGGTGTGGAATAATGAACTATCAAACTGGCATAGTTCCTGCCCTTAATGAGATTACAAACCATTCTACAGGCCAAGAAGTGCTGTGATTTTTGCCAAATAATCTTTTATTCTTCATTGTCCTTTAAGATCATGTTTGAAACCTTCAATGTCCCTGCCATGTACGTCGCCATTCAAGCTGTGCTCTCCCTCTATGCCTCTGGCCGCACGACAGGTGAGTAATCCTGTAATCCATTCCTTTTCTGACTTCAGGGGAGGTAGGGAAAAGCTGGGGTCTGGCAGAGGCTCCTGCTCAGAAGAATCAAATGGACAGCTGAAGTCCAGGCAAAATCTTTCTTAGGGATAATAGGTGAGAATGCCCATGTGGAATGCCAGATGTGAGCCTAGCTGGTATAGTTGGAAAAAACATCCAGCAAGAACTGTTTCCCTCACAGTAATAATTCCAGGAGCTTCTACACATACACACATTCCAACAATACTGGAATGTTTCTGCTTCATGAAGCAGAAAGAGTAGAACCTGTGGTGGTGGAAATGTAAGTGCAGTTACACATTGCTTAATGACAGGGATACGTTCCGAGAAATGTGTGTCATTAGGTGACTTTGTCACTGTGGGAACATCAGAGAGTGTACTTGCACAAACCTAGACGCTGTAGCCTACTACATGCCCCGGCTGTATGGCGTGGCCTATTGCTTCCAGGCTACAGACAGTATAGCATTTAACTATAATTAATACTGTAGGGAACTGTAACAGAATGGTTAGGTATTTGTATAGCTAAACATATTGAAACATAGAAAAGTTACAGTGAAAATATAATATCAAAGATAAAAAATGGTACACCTGTGTAGGGCACTTACATGAATGGAGCTTGCAAGACTAGAAGTTGCTCTGGGTGGGTTAGTGAGTGAGTAGTGAGAAAATGTGAAGACCTAAAATGTTACTGTGTACTACTGTAGACTATAAACACTGTACACATCGGCTGTACTACATTTATAAAAATATTATTCTTGGCCAGGCACAGTGGCTCACACCTGAAATCCCAGCACTTTGTGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGACGTGGTGTCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAGTCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCCCTCCAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAATATGTATATATATATATTATTCTTTCTTCAATAATAAATTAACCTTAGCTTACTGTAATGTTTTTTACCTTATAAACTTTTTAATTTTTAAAGCCATTTTTACTTTTTTTGTAGTGACAGTAATAGAAAAACATCTTTTTTCGACTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCACCAGGCTGGAGTGCAGTAGCGTGATCTCGGCTCATTGCAACCTCTGTCTCCCACGTTCAAACGATTCTCCTGCCTCAGCCTCCCATGACTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCATGCCTCAAACTCCCAAGTAGCTGGGACTACAGGAGCGTGCCACCATGCCTGGCTTATTTTTGTCTTTATTTAGTAGAGAAAAAAAAGGAGTACACCCTTTAAATGTCGATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCTCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGATCATCACCCCCAGCCAAAAATAGTTTCATTTATATCCTTTATTCTACAAGCTTTTTTCTATTAAATTTATTTTATTTTATTTTTTACTTTTAGAGCTTTTTTGATAAAAACTAAAATATACACATTAGCCTCGGCCTACACAGGTTCAGGATCATCAATACCACTGTATTTCATCTCCACATCTTGGCCCACTGGAAGGTCTTCAGGGTTAATAACATGCATGGAGCTGTCATCTCCTATGATAACAATACCTCCTTCTGGAATATCTCCGGAAGGACCTGCCTAAGGCTGTTTTACAGTCAACTTTTTATTTAATAAGTAGAAGGAGTA
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GAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGGAAACCAAAGCCCCATGTCCCTGCTACACTTTGCCCAATCCCTCTGAAAGACTCCTTTTTGGTCGTACTTGATCACTGAAGAAGGAACTGGACACAGGAAGAAATTAACTTCCTCTAAAACAGTGGTTCTTTTTTATTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCATGATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCCCAGCCTCCTGAGTAGCTGAGATTACAGGCAGGCGCTACCATGCCTGGCTAATTTTTTATCTTTTTGTAGAGACAGGCCCACAGTGTGTTGCCCAGGCTAAGCGGTGGTTCTTAACCAGGATGATTTTGCTTCCCAAAGGACATTTGGCAATGTCTGCAGACATTTTTTATTGTCACAACTGGAAAACTGCTGCTAGCATCCAGTGGGTGGAGACCAGGGATACTGGTCGGCCCTCCACAACAAAGAATTATCCAACCTAAAATGTCATAGAGCTGCGATTGAGAAACCCTGCTTTAAAGCACCAGCCTGGCCAATAATAGCCAGTGAAAATTGAGCCCAAGTGCCTCTGTCAGATTCTCAGCAGGAGATAGTGTACACTCAGCTGCGGTTTTGAAATTGTTTGACAGTGTATACTCAGCTGGGGTTTTACAACTGGTTAAATGAATGTCCTACAGAAATGTGCATAGGGTTAAGGCAACTACAAAGGGATGTCGAGGCACCCAAGAGCCAGCAACAGAGGGAGCTCTCACACCCCTAAACATGAAGGGGTCAGGTGACGAGGGCAGTGTCATTGGAGCTTAGTGAGAGCTTGAGCTCTGAAAGAGGGGCTGCCCAACAGGAACTGTGCTCATGGAGGGCCACGCCATTGTCAGGAGATAGACCCTGACTTCTTTTGCCCTCCTACTTTCCAGCCTCTTGCAGGAATCTTCTATCAGCCAAATATAGCCAGAAGCCAGAAAGCAATGAACACTTGAGTGATACAATGTGCCTTGCATCACTCAGTGCACAAAGGCAGGGGAGAGACTGTAGGAGAGTGAAGAGGAGGGAAGGTCAAATGGAAATAATGAACACATAGAAAATACTGGTTCCAGGTCTGAGTCCTACCTGGGGCCCTGTTGAGAAGGAGTATACCCTTTAAATGTCAATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCCCATCCTGTGTAACATGGTGCCACACTCTCCCAGCATGGGAATGTCAATGAGAATTTTCCAGCCATTGGGAGTCTGCCAGGCTCATATGGCTTTTGTCTCCACTAGATCTGGCACCACTCCTTCTACAATGAGCTGCGTGTAGCACCTGAAGAGCACCCCACCCTGCTCACAGAGGCTCCCCTAAATCCCAAGGCCAACAGGGAAAAGATGACCCAGGTAAGAAGCCAGGAAGACTTGAACACTGGCATAAGAATGCAACATGGATGCTTGGCCAGATACTTTCTCCCCTTCAAACATCAGTGCAACAGAACTCTCTGAGGACCTGCTATGTCTGTGGTCCATGCCAGGCCCTGGGGGAGTGGGTGTGGAATAATGAACTATCAAACTGGCATAGTTCCTGCCCTTAATGAGATTACAAACCATTCTACAGGCCAAGAAGTGCTGTGATTTTTGCCAAATAATCTTTTATTCTTCATTGTCCTTTAAGATCATGTTTGAAACCTTCAATGTCCCTGCCATGTACGTCGCCATTCAAGCTGTGCTCTCCCTCTATGCCTCTGGCAGCACGACAGGTGAGTAATCCTGTAATCCATTCCTTTTCTGACTTCAGGGGAGGTAGGGAAAAGCTGGGGTCTGGCAGAGGCTCCTGCTCAGAAGAATCAAATGGACAGCTGAAGTCCAGGCAAAATCTTTCTTAGGGATAATAGGTGAGAATGCCCATGTGGAATGCCAGATGTGAGCCTAGCTGGTATAGTTGGAAAAAACATCCAGCAAGAACTGTTTCCCTCACAGTAATAATTCCAGGAGCTTCTACACATACACACATTCCAACAATACTGGAATGTTTCTGCTTCATGAAGCAGAAAGAGTAGAACCTGTGGTGGTGGAAATGTAAGTGCAGTTACACATTGCTTAATGACAGGGATACGTTCCGAGAAATGTGTGTCATTAGGTGACTTTGTCACTGTGGGAACATCAGAGAGTGTACTTGCACAAACCTAGACGCTGTAGCCTACTACATGCCCCGGCTGTATGGCGTGGCCTATTGCTTCCAGGCTACAGACAGTATAGCATTTAACTATAATTAATACTGTAGGGAACTGTAACAGAATGGTTAGGTATTTGTATAGCTAAACATATTGAAACATAGAAAAGTTACAGTGAAAATATAATATCAAAGATAAAAAATGGTACACCTGTGTAGGGCACTTACATGAATGGAGCTTGCAAGACTAGAAGTTGCTCTGGGTGGGTTAGTGAGTGAGTAGTGAGAAAATGTGAAGACCTAAAATGTTACTGTGTACTACTGTAGACTATAAACACTGTACACATCGGCTGTACTACATTTATAAAAATATTATTCTTGGCCAGGCACAGTGGCTCACACCTGAAATCCCAGCACTTTGTGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGACGTGGTGTCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAGTCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCCCTCCAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAATATGTATATATATATATTATTCTTTCTTCAATAATAAATTAACCTTAGCTTACTGTAATGTTTTTTACCTTATAAACTTTTTAATTTTTAAAGCCATTTTTACTTTTTTTGTAGTGACAGTAATAGAAAAACATCTTTTTTCGACTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCACCAGGCTGGAGTGCAGTAGCGTGATCTCGGCTCATTGCAACCTCTGTCTCCCACGTTCAAACGATTCTCCTGCCTCAGCCTCCCATGACTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCATGCCTCAAACTCCCAAGTAGCTGGGACTACAGGAGCGTGCCACCATGCCTGGCTTATTTTTGTCTTTATTTAGTAGAGAAAAAAAAGGAGTACACCCTTTAAATGTCGATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCTCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGATCATCACCCCCAGCCAAAAATAGTTTCATTTATATCCTTTATTCTACAAGCTTTTTTCTATTAAATTTATTTTATTTTATTTTTTACTTTTAGAGCTTTTTTGATAAAAACTAAAATATACACATTAGCCTCGGCCTACACAGGTTCAGGATCATCAATACCACTGTATTTCATCTCCACATCTTGGCCCACTGGAAGGTCTTCAGGGTTAATAACATGCATGGAGCTGTCATCTCCTATGATAACAATACCTCCTTCTGGAATATCTCCGGAAGGACCTGCCTAAGGCTGTTTTACAGTCAACTTTTTATTTAATAAGTAGAAGGAGTA
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Task1_train_3744
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A variant affecting Chromosome 2, within the gene ACTG2 (actin gamma 2, smooth muscle), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Visceral myopathy 1
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AAATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTG
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AAATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGTGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTG
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Task1_train_3745
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Given this variant in gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
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AAATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTG
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AAATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGTGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTG
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Task1_train_3746
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A mutation found in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Inborn genetic diseases
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AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGA
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AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCACCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGA
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Task1_train_3747
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A mutation found in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Visceral myopathy 1
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AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGA
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AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCACCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGA
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Task1_train_3748
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This is a variant in ACTG2 (actin gamma 2, smooth muscle), located on Chromosome 2. Is this mutation a likely cause of disease or not?
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Pathogenic; Inborn genetic diseases
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AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGA
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AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCTCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGA
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Task1_train_3749
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A mutation found in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; ACTG2-related disorder
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TGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCA
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TGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCATAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCA
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Task1_train_3750
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Gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Visceral myopathy 1
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TAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATG
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TAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGACTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATG
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Task1_train_3751
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This is a variant in ACTG2 (actin gamma 2, smooth muscle), located on Chromosome 2. Is this mutation a likely cause of disease or not?
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Pathogenic; Visceral myopathy 1
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TATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATG
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TATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAAGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATG
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Task1_train_3752
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A genetic alteration is present in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Visceral myopathy 1
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TGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCC
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TGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCTAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCC
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Task1_train_3753
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A variant on Chromosome 2 in gene ACTG2 (actin gamma 2, smooth muscle) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Visceral myopathy 1
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GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
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GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCTGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
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Task1_train_3754
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Consider this mutation in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Is this a benign change or a disease-causing variant?
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Pathogenic; Visceral neuropathy, familial, 3, autosomal dominant
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GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
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GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCTGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
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Task1_train_3755
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Consider this mutation in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Is this a benign change or a disease-causing variant?
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Pathogenic; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
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GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
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GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCTGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
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Task1_train_3756
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A sequence alteration has been identified in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Is it disease-inducing or harmless?
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Pathogenic; Visceral myopathy 1
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GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
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GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCTGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
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Task1_train_3757
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Located on Chromosome 2, this mutation impacts ACTG2 (actin gamma 2, smooth muscle). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Inborn genetic diseases
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GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
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GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCTGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
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Task1_train_3758
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Here is a mutation in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Visceral myopathy 1
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CAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATATC
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CAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCACTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATATC
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Task1_train_3759
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Here is a genetic alteration in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Inborn genetic diseases
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CAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATATC
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CAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCACTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATATC
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Task1_train_3760
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Consider a variant on Chromosome 2 in gene DGUOK (deoxyguanosine kinase). Determine its clinical classification and disease relevance.
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Pathogenic; not provided
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CAGGCGTGAGCCACCGCGCCAGGCCACTTCACCATAAAATTTTTAAAAATAATTTTTAGGAGCTCTGTTACTGGTGGAGGGTGCCCAGGTTCTTGACATTTTGAACAAAGAATTGGACAAAACGTACAAAGCAAGGAAACAATGAAGCAACAAAAGCACAGATTTATTGTACATCAAAGAACACTCCTTGCGGTAGGAAGGGCCCAAGCAAGCAGCAATTACAGAATTTTCTGGGGTTTAAATACCTTCTAGAGGTTTCCCATTGGTTACCTGGTGTACACCCTATGTAAATGAAGTAGTGGCCAGCGATCAGTCTGATTGGTTGCAGGAGGGGACCAATCAGAGGCTGAAGTAAAGTTATGAAGTTATACCCCATGCAACTAAAGACTTGGCCTGCCACCAGCCTGACTGATTGCCCGCGGGGACCAGTCAGAGGTACTTTCAATTTTTTATCTGCCACCCAGAAGAGGGATTAGCTTCTGGTCCTTTTGTTACTTGGGCTAGAAAGTTGGGGTTTTCCTTTTGATTTAGTTCTAGGAAGTCAGCCTAAATCGGCCTTAGGTTCCCTGTCTCCAGACCCTATTTTCCTGCCTCGTAGCTTTTAGGAGATTAATGCCTGCCTGCAGACAACTTCCTCATTTAACTTTCACAACACCCCTGAGGCAGCAAGATCCTGGCGAGGCAGAGAGCCTCTCAAGCTTTTTTGGATGAATATTTTCCAAGTCTGAGTTTACATAGGTAAAGAAATGTAAGCAGTTTTTTTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTAACAGAAGTGGCTGCTGGAGTGGAGATGGGAATGGGTAGGACTTTAGCCGCTCCAGTAGCCATTAACGCCCCACCCTGGTTATCCTTAAAAAATTCGATTAAAAAAAAAGTTCTTAATATATAAACATGACCTCAGCCATCCTATATATACATCAACATAAGAAAAAGGTCCCGTGCTTTTTATGGGAACAGCTTCAAGACAGGTATCCCAGCCCCCGGCCCCTCCCCAGCCCCCTTGCAATCAGATCCTTGTCTTCTAAAACCTGCCACACCTAAGAGCGCTGCCTGAAGGCCGGTTTGGCCTGTTGACTCCTGGTTTTGACTGTTGGTGATTTAAGCGATTGGAACTGGAAGCACCATTTGACAACATTTTGTAAATCATTACTTCTGAGGTTGTTATGACGACGGGGTGTGGCAGTCCGGCTTCACCTGTGGCAGCAGCTTAGGTCCCTGCCCTCCTGCAGAGCACACTTCACCGACAGCAGGACTCAGGTTTTATACAAGTCTCTACTCGCCATTGCTTACGTCCAAGAACCCAGCCTACCAGGTTTAAACAATTTCCAGTCACATACCTGAGCCACCACCACCTTATCCTGAAGGGATTTTTGGGTATAATGCAAATCGATTGACCGAACATTTATTTACTTATTCAAGACACAAACTAAGAGATGGGGTGTAACTGATTATCTAATTTGTTAATTTAGTCAATAATATGCCAGCATTGTGCAGGGGAATTACAGGGAATAGGAAAAAGTTAAATTTGTGTAAATCATCAGATTGAGTCATTTTCCTACTTTAAAACTTCCATTTTCTTCCGATATTAAAATAAAAACCAGACAACAAGCACCTGGGGGGGGGGAAATCCCCTCTTAAAATTACAATTTCTATTTTTAATTTTGTCTTCAGTTATAAAATTTATTTTAAAGTTATACAAAAATGAAGTGGTTGGATTGTGGAATTACGTCTTTTAAAATGTTATTTGTCCAATGAACAAAAACCACTCGCACCGCAACTCCTTTTACTATCAAATTCTGCACCGTTGCAAAACTTCCTTCACTCAACGCTTCTTTACAAACATCGCGATAGCGGAGCGGTCTCTTGGGCGCACCCCGCCGCATGTTCAACCCCACCCACTTCCTGTCTGACGATCTCCTTACGTCAACGGTGCGCTGGAGCGAGTGAGCAGCGATACCTAGGGCGGAAGTGCTCTCGGCGGAAGTGATCGCTGTGTGAATCGTGGGTGGGATGGCCGCGGGCCGCCTCTTTCTAAGTCGGCTTCGAGCACCCTTCAGTTCCATGGCCAAGAGCCCACTCGAGGGCGTTTCCTCCTCCAGAGGCCTGCACGCGGGGCGCGGGCCCCGAAGGCTCTCCATCGAAGGCAACATTGGTAAGGGCCGGAAAGCGGCTGCCAAGCCTTGGCCTCCGCCACGCAGGCGACAGAGGCTGGGAAAGGAGCTGGGCCCGGAATGGCCTGCGTCTGATGCGGCCGGCCTCTTTTTCTGGGCTGCGAGGAGAGCCTTTCCCCTCGCAAAGTGCACTGTGTATCTTTGCCTCCTTGTTTTTAGGATATCGGGCCTCAGTACCCGCCCACAGGAACATATTTGTTGGGGCATAAAAGCCACGCAGTTAGTGGATAGGACAAGAATTGTATTAGCTGTTTGTAATAGATCGAAATTGAAGCGACAAGCGGGTGCAGTTTATTTGTTCTCCTAGATAGGGTTGCCATATTTAGCAGAAATTAAAAATAATATCCAGTTAAAATAGAATTTAAGATAACGAATAATTTTTAGTGTGTGTCCAATGCAATATTTGGGACATCCTTACAGCAAAACAACAACGAAATCACTCATTGAAAGTTCAAATTTAACTGTGTCCTGTATTTTATCTGGCAACCCTATTCGAAGAGAGTTCCTAAATTTCAGTCGTTCAAATACCACATTCACAATTTTTGCCCTGTGCCTGTGCTAGTTGCATAATAATTTCTTAAGGCTTTTCTTAGAAGAACCTCACTTTTTAAACTTAAAAACATGTATTAAATTAAAAATTATTTTGTTAAAAGAGTGAGATCCAGTATCTTGAATAAAAAGTAGTCAGAAAGCAAAATGAAGGCAAAGCATTTCGATTTAATATTAATAAATTCTGACTTGATACTTTTATCTACCAAGTCACTGAGCCCCTAAAAGGGGCTTAGCAAGTGTTGAGTACTGAAGACGTAGCAGCAAACTGAGAATTTCTTTTTTTATTCATTCAACAAATCACCTTTTGAGCCACTTCCATATGCCAGCACTGTTCTTGGCCTGGAGAATACAGCTGTGAATAGAACAAATAAAAATCTCTGCTCTCATGGAACTCAAGTAGGGAGAGATGGACAATAAACAACATAAATTAAGCAAGGTGAACAATATGTTAGAGAGTAATAAGTATGATGGAGAAAAATTAGGGATGAAGAATTGAGGGAAGTTTTTATTTTATTTTATTTGAGATGGAGTTTTGCTCTTGTTACCCAGGCTGGAGTGCAATGACACGATCTCGACTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTAGGGGCACCCGCCACCACACCCAGTTAATTTTTGTTTTGTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTTAGCCACTGCACCTGGCCGAAGTTGTCATTTTAAATAAAATAAGCAAGGCCTCACTGAGAAGGTGACATCTGAGCAAAAAACTGAAGATGAGGGAGCAAATCACGTGGATACCTGGGAGAAGAATCTTCTAGGCAGAGTGAAGAGCAATTGGAAAGGCCCTGAGGTGGAAAGTGTGTTCGGGGAATAGGAGGGAAATCGTTGTGACTGAAGTCGAGTGAGCAAGGATGGGAGGGAAATTAGGGCAAAAGCCCAAGGGGTGGCCAGATTTTATAGGCCTTATCATGGGTTTTTAATCTTACCGAGATGGGTAGCCATTGGAAGGTTTGAGGAGTCAAGTGACAGTTTTACTTAGATTATAAAAAGATCACTGTGGCTGATAACATTGAAAGTGAAGAGTGTTAAGTGGTATTGCAATAATTATAGTATTGTGAAAAGTGAAAGTGGTGAGACGTGATTGGATTCTAGTTATACGTTAACAAAAATTGAGTTACATTTTAAGTAAAATTTAACAGTGGAAGTGGTGAGAAATGATTGGGTTCTAGTTATAT
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CAGGCGTGAGCCACCGCGCCAGGCCACTTCACCATAAAATTTTTAAAAATAATTTTTAGGAGCTCTGTTACTGGTGGAGGGTGCCCAGGTTCTTGACATTTTGAACAAAGAATTGGACAAAACGTACAAAGCAAGGAAACAATGAAGCAACAAAAGCACAGATTTATTGTACATCAAAGAACACTCCTTGCGGTAGGAAGGGCCCAAGCAAGCAGCAATTACAGAATTTTCTGGGGTTTAAATACCTTCTAGAGGTTTCCCATTGGTTACCTGGTGTACACCCTATGTAAATGAAGTAGTGGCCAGCGATCAGTCTGATTGGTTGCAGGAGGGGACCAATCAGAGGCTGAAGTAAAGTTATGAAGTTATACCCCATGCAACTAAAGACTTGGCCTGCCACCAGCCTGACTGATTGCCCGCGGGGACCAGTCAGAGGTACTTTCAATTTTTTATCTGCCACCCAGAAGAGGGATTAGCTTCTGGTCCTTTTGTTACTTGGGCTAGAAAGTTGGGGTTTTCCTTTTGATTTAGTTCTAGGAAGTCAGCCTAAATCGGCCTTAGGTTCCCTGTCTCCAGACCCTATTTTCCTGCCTCGTAGCTTTTAGGAGATTAATGCCTGCCTGCAGACAACTTCCTCATTTAACTTTCACAACACCCCTGAGGCAGCAAGATCCTGGCGAGGCAGAGAGCCTCTCAAGCTTTTTTGGATGAATATTTTCCAAGTCTGAGTTTACATAGGTAAAGAAATGTAAGCAGTTTTTTTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTAACAGAAGTGGCTGCTGGAGTGGAGATGGGAATGGGTAGGACTTTAGCCGCTCCAGTAGCCATTAACGCCCCACCCTGGTTATCCTTAAAAAATTCGATTAAAAAAAAAGTTCTTAATATATAAACATGACCTCAGCCATCCTATATATACATCAACATAAGAAAAAGGTCCCGTGCTTTTTATGGGAACAGCTTCAAGACAGGTATCCCAGCCCCCGGCCCCTCCCCAGCCCCCTTGCAATCAGATCCTTGTCTTCTAAAACCTGCCACACCTAAGAGCGCTGCCTGAAGGCCGGTTTGGCCTGTTGACTCCTGGTTTTGACTGTTGGTGATTTAAGCGATTGGAACTGGAAGCACCATTTGACAACATTTTGTAAATCATTACTTCTGAGGTTGTTATGACGACGGGGTGTGGCAGTCCGGCTTCACCTGTGGCAGCAGCTTAGGTCCCTGCCCTCCTGCAGAGCACACTTCACCGACAGCAGGACTCAGGTTTTATACAAGTCTCTACTCGCCATTGCTTACGTCCAAGAACCCAGCCTACCAGGTTTAAACAATTTCCAGTCACATACCTGAGCCACCACCACCTTATCCTGAAGGGATTTTTGGGTATAATGCAAATCGATTGACCGAACATTTATTTACTTATTCAAGACACAAACTAAGAGATGGGGTGTAACTGATTATCTAATTTGTTAATTTAGTCAATAATATGCCAGCATTGTGCAGGGGAATTACAGGGAATAGGAAAAAGTTAAATTTGTGTAAATCATCAGATTGAGTCATTTTCCTACTTTAAAACTTCCATTTTCTTCCGATATTAAAATAAAAACCAGACAACAAGCACCTGGGGGGGGGGAAATCCCCTCTTAAAATTACAATTTCTATTTTTAATTTTGTCTTCAGTTATAAAATTTATTTTAAAGTTATACAAAAATGAAGTGGTTGGATTGTGGAATTACGTCTTTTAAAATGTTATTTGTCCAATGAACAAAAACCACTCGCACCGCAACTCCTTTTACTATCAAATTCTGCACCGTTGCAAAACTTCCTTCACTCAACGCTTCTTTACAAACATCGCGATAGCGGAGCGGTCTCTTGGGCGCACCCCGCCGCATGTTCAACCCCACCCACTTCCTGTCTGACGATCTCCTTACGTCAACGGTGCGCTGGAGCGAGTGAGCAGCGATACCTAGGGCGGAAGTGCTCTCGGCGGAAGTGATCGCTGTGTGAATCGTGGGTGGGGTGGCCGCGGGCCGCCTCTTTCTAAGTCGGCTTCGAGCACCCTTCAGTTCCATGGCCAAGAGCCCACTCGAGGGCGTTTCCTCCTCCAGAGGCCTGCACGCGGGGCGCGGGCCCCGAAGGCTCTCCATCGAAGGCAACATTGGTAAGGGCCGGAAAGCGGCTGCCAAGCCTTGGCCTCCGCCACGCAGGCGACAGAGGCTGGGAAAGGAGCTGGGCCCGGAATGGCCTGCGTCTGATGCGGCCGGCCTCTTTTTCTGGGCTGCGAGGAGAGCCTTTCCCCTCGCAAAGTGCACTGTGTATCTTTGCCTCCTTGTTTTTAGGATATCGGGCCTCAGTACCCGCCCACAGGAACATATTTGTTGGGGCATAAAAGCCACGCAGTTAGTGGATAGGACAAGAATTGTATTAGCTGTTTGTAATAGATCGAAATTGAAGCGACAAGCGGGTGCAGTTTATTTGTTCTCCTAGATAGGGTTGCCATATTTAGCAGAAATTAAAAATAATATCCAGTTAAAATAGAATTTAAGATAACGAATAATTTTTAGTGTGTGTCCAATGCAATATTTGGGACATCCTTACAGCAAAACAACAACGAAATCACTCATTGAAAGTTCAAATTTAACTGTGTCCTGTATTTTATCTGGCAACCCTATTCGAAGAGAGTTCCTAAATTTCAGTCGTTCAAATACCACATTCACAATTTTTGCCCTGTGCCTGTGCTAGTTGCATAATAATTTCTTAAGGCTTTTCTTAGAAGAACCTCACTTTTTAAACTTAAAAACATGTATTAAATTAAAAATTATTTTGTTAAAAGAGTGAGATCCAGTATCTTGAATAAAAAGTAGTCAGAAAGCAAAATGAAGGCAAAGCATTTCGATTTAATATTAATAAATTCTGACTTGATACTTTTATCTACCAAGTCACTGAGCCCCTAAAAGGGGCTTAGCAAGTGTTGAGTACTGAAGACGTAGCAGCAAACTGAGAATTTCTTTTTTTATTCATTCAACAAATCACCTTTTGAGCCACTTCCATATGCCAGCACTGTTCTTGGCCTGGAGAATACAGCTGTGAATAGAACAAATAAAAATCTCTGCTCTCATGGAACTCAAGTAGGGAGAGATGGACAATAAACAACATAAATTAAGCAAGGTGAACAATATGTTAGAGAGTAATAAGTATGATGGAGAAAAATTAGGGATGAAGAATTGAGGGAAGTTTTTATTTTATTTTATTTGAGATGGAGTTTTGCTCTTGTTACCCAGGCTGGAGTGCAATGACACGATCTCGACTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTAGGGGCACCCGCCACCACACCCAGTTAATTTTTGTTTTGTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTTAGCCACTGCACCTGGCCGAAGTTGTCATTTTAAATAAAATAAGCAAGGCCTCACTGAGAAGGTGACATCTGAGCAAAAAACTGAAGATGAGGGAGCAAATCACGTGGATACCTGGGAGAAGAATCTTCTAGGCAGAGTGAAGAGCAATTGGAAAGGCCCTGAGGTGGAAAGTGTGTTCGGGGAATAGGAGGGAAATCGTTGTGACTGAAGTCGAGTGAGCAAGGATGGGAGGGAAATTAGGGCAAAAGCCCAAGGGGTGGCCAGATTTTATAGGCCTTATCATGGGTTTTTAATCTTACCGAGATGGGTAGCCATTGGAAGGTTTGAGGAGTCAAGTGACAGTTTTACTTAGATTATAAAAAGATCACTGTGGCTGATAACATTGAAAGTGAAGAGTGTTAAGTGGTATTGCAATAATTATAGTATTGTGAAAAGTGAAAGTGGTGAGACGTGATTGGATTCTAGTTATACGTTAACAAAAATTGAGTTACATTTTAAGTAAAATTTAACAGTGGAAGTGGTGAGAAATGATTGGGTTCTAGTTATAT
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Task1_train_3761
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A mutation in DGUOK, LOC129934096 (deoxyguanosine kinase| ATAC-STARR-seq lymphoblastoid active region 16036), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; not provided
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GGCGTGAGCCACCGCGCCAGGCCACTTCACCATAAAATTTTTAAAAATAATTTTTAGGAGCTCTGTTACTGGTGGAGGGTGCCCAGGTTCTTGACATTTTGAACAAAGAATTGGACAAAACGTACAAAGCAAGGAAACAATGAAGCAACAAAAGCACAGATTTATTGTACATCAAAGAACACTCCTTGCGGTAGGAAGGGCCCAAGCAAGCAGCAATTACAGAATTTTCTGGGGTTTAAATACCTTCTAGAGGTTTCCCATTGGTTACCTGGTGTACACCCTATGTAAATGAAGTAGTGGCCAGCGATCAGTCTGATTGGTTGCAGGAGGGGACCAATCAGAGGCTGAAGTAAAGTTATGAAGTTATACCCCATGCAACTAAAGACTTGGCCTGCCACCAGCCTGACTGATTGCCCGCGGGGACCAGTCAGAGGTACTTTCAATTTTTTATCTGCCACCCAGAAGAGGGATTAGCTTCTGGTCCTTTTGTTACTTGGGCTAGAAAGTTGGGGTTTTCCTTTTGATTTAGTTCTAGGAAGTCAGCCTAAATCGGCCTTAGGTTCCCTGTCTCCAGACCCTATTTTCCTGCCTCGTAGCTTTTAGGAGATTAATGCCTGCCTGCAGACAACTTCCTCATTTAACTTTCACAACACCCCTGAGGCAGCAAGATCCTGGCGAGGCAGAGAGCCTCTCAAGCTTTTTTGGATGAATATTTTCCAAGTCTGAGTTTACATAGGTAAAGAAATGTAAGCAGTTTTTTTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTAACAGAAGTGGCTGCTGGAGTGGAGATGGGAATGGGTAGGACTTTAGCCGCTCCAGTAGCCATTAACGCCCCACCCTGGTTATCCTTAAAAAATTCGATTAAAAAAAAAGTTCTTAATATATAAACATGACCTCAGCCATCCTATATATACATCAACATAAGAAAAAGGTCCCGTGCTTTTTATGGGAACAGCTTCAAGACAGGTATCCCAGCCCCCGGCCCCTCCCCAGCCCCCTTGCAATCAGATCCTTGTCTTCTAAAACCTGCCACACCTAAGAGCGCTGCCTGAAGGCCGGTTTGGCCTGTTGACTCCTGGTTTTGACTGTTGGTGATTTAAGCGATTGGAACTGGAAGCACCATTTGACAACATTTTGTAAATCATTACTTCTGAGGTTGTTATGACGACGGGGTGTGGCAGTCCGGCTTCACCTGTGGCAGCAGCTTAGGTCCCTGCCCTCCTGCAGAGCACACTTCACCGACAGCAGGACTCAGGTTTTATACAAGTCTCTACTCGCCATTGCTTACGTCCAAGAACCCAGCCTACCAGGTTTAAACAATTTCCAGTCACATACCTGAGCCACCACCACCTTATCCTGAAGGGATTTTTGGGTATAATGCAAATCGATTGACCGAACATTTATTTACTTATTCAAGACACAAACTAAGAGATGGGGTGTAACTGATTATCTAATTTGTTAATTTAGTCAATAATATGCCAGCATTGTGCAGGGGAATTACAGGGAATAGGAAAAAGTTAAATTTGTGTAAATCATCAGATTGAGTCATTTTCCTACTTTAAAACTTCCATTTTCTTCCGATATTAAAATAAAAACCAGACAACAAGCACCTGGGGGGGGGGAAATCCCCTCTTAAAATTACAATTTCTATTTTTAATTTTGTCTTCAGTTATAAAATTTATTTTAAAGTTATACAAAAATGAAGTGGTTGGATTGTGGAATTACGTCTTTTAAAATGTTATTTGTCCAATGAACAAAAACCACTCGCACCGCAACTCCTTTTACTATCAAATTCTGCACCGTTGCAAAACTTCCTTCACTCAACGCTTCTTTACAAACATCGCGATAGCGGAGCGGTCTCTTGGGCGCACCCCGCCGCATGTTCAACCCCACCCACTTCCTGTCTGACGATCTCCTTACGTCAACGGTGCGCTGGAGCGAGTGAGCAGCGATACCTAGGGCGGAAGTGCTCTCGGCGGAAGTGATCGCTGTGTGAATCGTGGGTGGGATGGCCGCGGGCCGCCTCTTTCTAAGTCGGCTTCGAGCACCCTTCAGTTCCATGGCCAAGAGCCCACTCGAGGGCGTTTCCTCCTCCAGAGGCCTGCACGCGGGGCGCGGGCCCCGAAGGCTCTCCATCGAAGGCAACATTGGTAAGGGCCGGAAAGCGGCTGCCAAGCCTTGGCCTCCGCCACGCAGGCGACAGAGGCTGGGAAAGGAGCTGGGCCCGGAATGGCCTGCGTCTGATGCGGCCGGCCTCTTTTTCTGGGCTGCGAGGAGAGCCTTTCCCCTCGCAAAGTGCACTGTGTATCTTTGCCTCCTTGTTTTTAGGATATCGGGCCTCAGTACCCGCCCACAGGAACATATTTGTTGGGGCATAAAAGCCACGCAGTTAGTGGATAGGACAAGAATTGTATTAGCTGTTTGTAATAGATCGAAATTGAAGCGACAAGCGGGTGCAGTTTATTTGTTCTCCTAGATAGGGTTGCCATATTTAGCAGAAATTAAAAATAATATCCAGTTAAAATAGAATTTAAGATAACGAATAATTTTTAGTGTGTGTCCAATGCAATATTTGGGACATCCTTACAGCAAAACAACAACGAAATCACTCATTGAAAGTTCAAATTTAACTGTGTCCTGTATTTTATCTGGCAACCCTATTCGAAGAGAGTTCCTAAATTTCAGTCGTTCAAATACCACATTCACAATTTTTGCCCTGTGCCTGTGCTAGTTGCATAATAATTTCTTAAGGCTTTTCTTAGAAGAACCTCACTTTTTAAACTTAAAAACATGTATTAAATTAAAAATTATTTTGTTAAAAGAGTGAGATCCAGTATCTTGAATAAAAAGTAGTCAGAAAGCAAAATGAAGGCAAAGCATTTCGATTTAATATTAATAAATTCTGACTTGATACTTTTATCTACCAAGTCACTGAGCCCCTAAAAGGGGCTTAGCAAGTGTTGAGTACTGAAGACGTAGCAGCAAACTGAGAATTTCTTTTTTTATTCATTCAACAAATCACCTTTTGAGCCACTTCCATATGCCAGCACTGTTCTTGGCCTGGAGAATACAGCTGTGAATAGAACAAATAAAAATCTCTGCTCTCATGGAACTCAAGTAGGGAGAGATGGACAATAAACAACATAAATTAAGCAAGGTGAACAATATGTTAGAGAGTAATAAGTATGATGGAGAAAAATTAGGGATGAAGAATTGAGGGAAGTTTTTATTTTATTTTATTTGAGATGGAGTTTTGCTCTTGTTACCCAGGCTGGAGTGCAATGACACGATCTCGACTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTAGGGGCACCCGCCACCACACCCAGTTAATTTTTGTTTTGTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTTAGCCACTGCACCTGGCCGAAGTTGTCATTTTAAATAAAATAAGCAAGGCCTCACTGAGAAGGTGACATCTGAGCAAAAAACTGAAGATGAGGGAGCAAATCACGTGGATACCTGGGAGAAGAATCTTCTAGGCAGAGTGAAGAGCAATTGGAAAGGCCCTGAGGTGGAAAGTGTGTTCGGGGAATAGGAGGGAAATCGTTGTGACTGAAGTCGAGTGAGCAAGGATGGGAGGGAAATTAGGGCAAAAGCCCAAGGGGTGGCCAGATTTTATAGGCCTTATCATGGGTTTTTAATCTTACCGAGATGGGTAGCCATTGGAAGGTTTGAGGAGTCAAGTGACAGTTTTACTTAGATTATAAAAAGATCACTGTGGCTGATAACATTGAAAGTGAAGAGTGTTAAGTGGTATTGCAATAATTATAGTATTGTGAAAAGTGAAAGTGGTGAGACGTGATTGGATTCTAGTTATACGTTAACAAAAATTGAGTTACATTTTAAGTAAAATTTAACAGTGGAAGTGGTGAGAAATGATTGGGTTCTAGTTATATTT
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GGCGTGAGCCACCGCGCCAGGCCACTTCACCATAAAATTTTTAAAAATAATTTTTAGGAGCTCTGTTACTGGTGGAGGGTGCCCAGGTTCTTGACATTTTGAACAAAGAATTGGACAAAACGTACAAAGCAAGGAAACAATGAAGCAACAAAAGCACAGATTTATTGTACATCAAAGAACACTCCTTGCGGTAGGAAGGGCCCAAGCAAGCAGCAATTACAGAATTTTCTGGGGTTTAAATACCTTCTAGAGGTTTCCCATTGGTTACCTGGTGTACACCCTATGTAAATGAAGTAGTGGCCAGCGATCAGTCTGATTGGTTGCAGGAGGGGACCAATCAGAGGCTGAAGTAAAGTTATGAAGTTATACCCCATGCAACTAAAGACTTGGCCTGCCACCAGCCTGACTGATTGCCCGCGGGGACCAGTCAGAGGTACTTTCAATTTTTTATCTGCCACCCAGAAGAGGGATTAGCTTCTGGTCCTTTTGTTACTTGGGCTAGAAAGTTGGGGTTTTCCTTTTGATTTAGTTCTAGGAAGTCAGCCTAAATCGGCCTTAGGTTCCCTGTCTCCAGACCCTATTTTCCTGCCTCGTAGCTTTTAGGAGATTAATGCCTGCCTGCAGACAACTTCCTCATTTAACTTTCACAACACCCCTGAGGCAGCAAGATCCTGGCGAGGCAGAGAGCCTCTCAAGCTTTTTTGGATGAATATTTTCCAAGTCTGAGTTTACATAGGTAAAGAAATGTAAGCAGTTTTTTTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTAACAGAAGTGGCTGCTGGAGTGGAGATGGGAATGGGTAGGACTTTAGCCGCTCCAGTAGCCATTAACGCCCCACCCTGGTTATCCTTAAAAAATTCGATTAAAAAAAAAGTTCTTAATATATAAACATGACCTCAGCCATCCTATATATACATCAACATAAGAAAAAGGTCCCGTGCTTTTTATGGGAACAGCTTCAAGACAGGTATCCCAGCCCCCGGCCCCTCCCCAGCCCCCTTGCAATCAGATCCTTGTCTTCTAAAACCTGCCACACCTAAGAGCGCTGCCTGAAGGCCGGTTTGGCCTGTTGACTCCTGGTTTTGACTGTTGGTGATTTAAGCGATTGGAACTGGAAGCACCATTTGACAACATTTTGTAAATCATTACTTCTGAGGTTGTTATGACGACGGGGTGTGGCAGTCCGGCTTCACCTGTGGCAGCAGCTTAGGTCCCTGCCCTCCTGCAGAGCACACTTCACCGACAGCAGGACTCAGGTTTTATACAAGTCTCTACTCGCCATTGCTTACGTCCAAGAACCCAGCCTACCAGGTTTAAACAATTTCCAGTCACATACCTGAGCCACCACCACCTTATCCTGAAGGGATTTTTGGGTATAATGCAAATCGATTGACCGAACATTTATTTACTTATTCAAGACACAAACTAAGAGATGGGGTGTAACTGATTATCTAATTTGTTAATTTAGTCAATAATATGCCAGCATTGTGCAGGGGAATTACAGGGAATAGGAAAAAGTTAAATTTGTGTAAATCATCAGATTGAGTCATTTTCCTACTTTAAAACTTCCATTTTCTTCCGATATTAAAATAAAAACCAGACAACAAGCACCTGGGGGGGGGGAAATCCCCTCTTAAAATTACAATTTCTATTTTTAATTTTGTCTTCAGTTATAAAATTTATTTTAAAGTTATACAAAAATGAAGTGGTTGGATTGTGGAATTACGTCTTTTAAAATGTTATTTGTCCAATGAACAAAAACCACTCGCACCGCAACTCCTTTTACTATCAAATTCTGCACCGTTGCAAAACTTCCTTCACTCAACGCTTCTTTACAAACATCGCGATAGCGGAGCGGTCTCTTGGGCGCACCCCGCCGCATGTTCAACCCCACCCACTTCCTGTCTGACGATCTCCTTACGTCAACGGTGCGCTGGAGCGAGTGAGCAGCGATACCTAGGGCGGAAGTGCTCTCGGCGGAAGTGATCGCTGTGTGAATCGTGGGTGGGATAGCCGCGGGCCGCCTCTTTCTAAGTCGGCTTCGAGCACCCTTCAGTTCCATGGCCAAGAGCCCACTCGAGGGCGTTTCCTCCTCCAGAGGCCTGCACGCGGGGCGCGGGCCCCGAAGGCTCTCCATCGAAGGCAACATTGGTAAGGGCCGGAAAGCGGCTGCCAAGCCTTGGCCTCCGCCACGCAGGCGACAGAGGCTGGGAAAGGAGCTGGGCCCGGAATGGCCTGCGTCTGATGCGGCCGGCCTCTTTTTCTGGGCTGCGAGGAGAGCCTTTCCCCTCGCAAAGTGCACTGTGTATCTTTGCCTCCTTGTTTTTAGGATATCGGGCCTCAGTACCCGCCCACAGGAACATATTTGTTGGGGCATAAAAGCCACGCAGTTAGTGGATAGGACAAGAATTGTATTAGCTGTTTGTAATAGATCGAAATTGAAGCGACAAGCGGGTGCAGTTTATTTGTTCTCCTAGATAGGGTTGCCATATTTAGCAGAAATTAAAAATAATATCCAGTTAAAATAGAATTTAAGATAACGAATAATTTTTAGTGTGTGTCCAATGCAATATTTGGGACATCCTTACAGCAAAACAACAACGAAATCACTCATTGAAAGTTCAAATTTAACTGTGTCCTGTATTTTATCTGGCAACCCTATTCGAAGAGAGTTCCTAAATTTCAGTCGTTCAAATACCACATTCACAATTTTTGCCCTGTGCCTGTGCTAGTTGCATAATAATTTCTTAAGGCTTTTCTTAGAAGAACCTCACTTTTTAAACTTAAAAACATGTATTAAATTAAAAATTATTTTGTTAAAAGAGTGAGATCCAGTATCTTGAATAAAAAGTAGTCAGAAAGCAAAATGAAGGCAAAGCATTTCGATTTAATATTAATAAATTCTGACTTGATACTTTTATCTACCAAGTCACTGAGCCCCTAAAAGGGGCTTAGCAAGTGTTGAGTACTGAAGACGTAGCAGCAAACTGAGAATTTCTTTTTTTATTCATTCAACAAATCACCTTTTGAGCCACTTCCATATGCCAGCACTGTTCTTGGCCTGGAGAATACAGCTGTGAATAGAACAAATAAAAATCTCTGCTCTCATGGAACTCAAGTAGGGAGAGATGGACAATAAACAACATAAATTAAGCAAGGTGAACAATATGTTAGAGAGTAATAAGTATGATGGAGAAAAATTAGGGATGAAGAATTGAGGGAAGTTTTTATTTTATTTTATTTGAGATGGAGTTTTGCTCTTGTTACCCAGGCTGGAGTGCAATGACACGATCTCGACTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTAGGGGCACCCGCCACCACACCCAGTTAATTTTTGTTTTGTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTTAGCCACTGCACCTGGCCGAAGTTGTCATTTTAAATAAAATAAGCAAGGCCTCACTGAGAAGGTGACATCTGAGCAAAAAACTGAAGATGAGGGAGCAAATCACGTGGATACCTGGGAGAAGAATCTTCTAGGCAGAGTGAAGAGCAATTGGAAAGGCCCTGAGGTGGAAAGTGTGTTCGGGGAATAGGAGGGAAATCGTTGTGACTGAAGTCGAGTGAGCAAGGATGGGAGGGAAATTAGGGCAAAAGCCCAAGGGGTGGCCAGATTTTATAGGCCTTATCATGGGTTTTTAATCTTACCGAGATGGGTAGCCATTGGAAGGTTTGAGGAGTCAAGTGACAGTTTTACTTAGATTATAAAAAGATCACTGTGGCTGATAACATTGAAAGTGAAGAGTGTTAAGTGGTATTGCAATAATTATAGTATTGTGAAAAGTGAAAGTGGTGAGACGTGATTGGATTCTAGTTATACGTTAACAAAAATTGAGTTACATTTTAAGTAAAATTTAACAGTGGAAGTGGTGAGAAATGATTGGGTTCTAGTTATATTT
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Task1_train_3762
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An alteration has been detected in DGUOK (deoxyguanosine kinase) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
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GCTGCTCCCAACCATCTCTAGTGACACCACAGAGACTACAGGAGACACAAATTTGTCCTCCTACTTCTACCTCCAGCTCTTAGTCAGGGGCCACGTGTGAGGCTGGTATGTGTGGGCTTGCGGGGTCAGAAGGAGGGAAATCCCGAAAATACCTCTGAGTTAAATGCTTTTCTGGTCCACTCTGCTCTATATGTGTTGTTTCTGCTGAAGCCTTTCAAAGGGCTAAGACCCTTCTTTGGAATCTAATAGTGCTATTTTGCCAAATTGGACTTCTTACTGTTGTTGAATCTTTTTTCTCCTTCTGTCCTGTTGTCTCTACCTGAAGTACAATCTTCTTAATCTCCATTTCCATCTGTGAGAATTCTACTCATCAGTTACTTCCCAGCTTAATGCCACTTTCTTTCAGAAACTCCCTGAGATTCCTTCCACCATCAGTAATCGTCCCTTCATCACATGTTCTGCCTTACATTCCAGCTTCGTACATCCTCATCACCCTCTTCCTTTTTGCACTGTGAGCTCTTTGAGTTCAGGAACTGTCTTGTTCACCTTTAGATGGAGGGTGTTGGAATGATGAGGTTAGAGGAAGCCAGGTTTGAGTCCCTTCAACATTTACTCGCCATGAAACCTTGCACAAGTAAGTTACTTAACCTCTGAGTGGATTTTCCCCTCTGGAAAATGGGCATTACAACAGTACCTACCTCATGAAGCTGTTTTGAAGATTAATTGAGGTAACATACCACAGTAAAGGTTGAAATAAATGTTAATTCCTTTTTCTATACCCTTACGGTACCCTGCCCATGTAGCGCCTCATCCACACAGGCCTTCAGTGATTGGTGATTGAATAAAAAATACAGATCCAAAGTGCTTTTGTACAAAATTCACTTTTGCATTGTTGAGTCAATGGCAGATCCAGAAAAGAATCTGGGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGACAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTTGTCGTGGTGGCGGGTGCCTGTGATCCCAGCCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACTCGGCTGGGGTGGGGAGGAGGGCGGAGGTTGCAGTGAGCCGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAATCCGGGGCTGCTGAACATCCCACACTTGTGCCCACTTGCACATGCCGAGTAAGTGGAACGTTTTAATTATGTTTCATAAAGTCTCTAGAATTAAGTAGGGTTTTGTTTTAACAAACAAATTGTACTCCTTATATGAAAGATAAAATTCTATTTGGTGGTTGATTGGTTGGATTTTCAAATAAGCAGTTGCTTTCTGGTTTGCCTTGACATTTTATAAACATAACTACAGATGGAAGCTCAAAAGAGAGGCAACATAGTGTTATAGTGGAAAGATTTGATTCAGAGTTAAATTTTAGATGGTTGTTGACTGTTAACTCCTCCCCAGACAGACTTCACAAATCCCTCAATCAGTGATCGTGTTAATTCTATATATGGTTCTTCCTCTGCTTTTGTTATATTGAAGTGGCATGTCATCTCCCTTTAGAGAGTCTTATTTAATAGGTAGGAAAATCTCATACCTGATTATGAAATTTTGACTAAGCTGGGGATCTGATTCTACCTTTTTGGTGGAAGGAAACTTTTGTAATTTCTTCTTTCATTGATTATTAAACCTGTTTGGGGAGGTAGGGGTGTGTGTGGAGGGGTGTACCCCATGGAGTAAATATGCTTTCTAGGAAATTTTCTTCTTTTTTTCATCTCCCTCTAGGCCTGCACTGCCCAAAGTCTTGGAAACTTGCTGGATATGATGTACCGGGAGCCAGCACGATGGTCCTACACATTCCAGACATTTTCCTTTTTGAGCCGCCTGAAAGTACAGCTGGAGCCCTTCCCTGAGAAACTCTTACAGGCCAGGAAGCCAGTACAGATCTTTGAGAGGTCTGTGTACAGTGACAGGTAAAATGCCAAGCCCTCCACCAGTCACAAGCCCCATGCTCAGTGCTGCCTGTTTGATCTTGCACAGATCCTGCACTGCTATGGTCACTGATGATTATAATTTGAAAAATTATCTTCTTTTTTAAAGACAACACTATACAGATTTGTCCAGAGTTGTACTTCTACCAGATTGTCATCTATGTCAAGAAAGGAAATTGGGTTTTTCATCAACTGAATGCTTTGAATTTCTTACATTGCTACTGATTACCTTATGTTTCCTTATTTTCTGGCATGGAGCAAGCTGGTAGCCACCTAATGTAACCATCACATGCTAAAAGGCACATAATAGACACTTAAGTAGCAGTGTATATTCTAAGAAATCAGATGATTCAGTGGTTGATTATCCCCTTTAAGAAAAAAGCAGACGAAATTAAAATTTGTGTTCCTGAAAATGATATAAGAGATATTTTCAGCCTTTTTTTTTTATTGTTCAAGAAAGGATGCTTAGGCAGAAATAGCACATCTGAGAAACTGGCTTCTGTCTCAGATTTAGCCCTTTTTGACCCCTTCTTCTGTGAGAGGGCTTTTTGCTGGCCAGAGTCTAGTGGACATCAGTGCCTGTGTCAGATCAGGGATGGGCATCATCCTGACCACCTGAGGGAGTGAGATGTGAAGTCACTTTGAATGCAAGCTAGCAGCACCCTGGGAAGTGAGCCCATCTGCTCCAGAAGAGCTAGGCCGTGCAGGCTCCGGAATGCCTGGCTCTGCTGCAGAGACCAGGCTGTGACTTGAGGTTAAGCCGCCTAGAGACAAAGTCAGGATGGCTTGATCTGGACACTGCTGGAGTTTTTCTTATCTGAAGCCTATGAATGACCAGTGTCAGTGTGAAATAGTGCTTTCAAGCAAAACGATCTTTCTTAAGGCTCTTTGAATTATCAAAATGGGAAGTGGTACATTTTCATTGTCACTGCTGAAGACACTCAGTTGGTTACTCTTTTAATTCCAAATTAGACAAACTAGTTCTATTTCTTAGTGCTTCCGGAAAGCCTCCTAGAAGAAAAAAAATAAGGATACATTTGTAAATGACAAGTGATTTTTCTGACTTTACCCTAAAATCATGGAAGATATGTAAAACAAACCCTATAGGCTATCCGTTCCTTGTGTACGTACCCCGAGAGAGCCTACTTTTTATAAAAGCTAAATATGTGAATTACAAATGGCTGGGCTATAGGTTTTACTTCTTTTTCAGCTGTTGGATATCCCACCTGCCTGTTTTCCTCTCTTCTCTCCCAAGCCATGCCTCTCGGACTCCGAAGTTGAATTACATATAACCACATGGGTTGTTTGGAAACATAGTCAGTCTTTATTTCTAGCCGCTTCATGAAGTAGGTGTGTGAGACCCTCAGAGGAAAATAGAGAAGTAGAAACACTTTGTTAATTAGAAATGCATTAAGAAGCTGCATGGATCTTAACCTTTGCTTGTAAAGGAAGAGGTAATAATTGATTACACTGTGGGCATACAACATTCCAGGTGCTATCTTCAGTGAGGGCATTTTCGAGACAGAAAGGAAAACTAATCACAAGTTCTAATCCCGAGGGTAATTTAGACTTTGTTCACTTGCACAGATTTATTGGATGCCTCCTGTGTTGAAGCACCAAGGCTGGCCCTGGGGCTGCAGCAGTGAATAAGGCAGACCCAGTCCCTGCCTAACAGGGACTGAACACATGCTCACGTGTGTGATATTTGTTCCAAAGGAGGAACACAGGTTATCTGGGAGAGTTGATTATAGCGAGGAAGAAATCTTAGTCTTTTCTGTTTGAGTTAAAGGAAACATTAGCATATGGTTTTAGAGCAGAGGCCCTGACTCCTAGATCCTTATGCCCTGTTCTGTCCTGCAGCCCCTGCATTCAGTCTGCAGTACTTCCCTCCCACTCAGCACCACACCCTTCTGCCCCTCACCCCATCACCACCACAAGCTTTGAAGAAATAAAGGAAGTGCTCTTTCTCAAGAAAGCCAAGAACCCCTTTCATAGGGCTTATTAGCAAATC
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GCTGCTCCCAACCATCTCTAGTGACACCACAGAGACTACAGGAGACACAAATTTGTCCTCCTACTTCTACCTCCAGCTCTTAGTCAGGGGCCACGTGTGAGGCTGGTATGTGTGGGCTTGCGGGGTCAGAAGGAGGGAAATCCCGAAAATACCTCTGAGTTAAATGCTTTTCTGGTCCACTCTGCTCTATATGTGTTGTTTCTGCTGAAGCCTTTCAAAGGGCTAAGACCCTTCTTTGGAATCTAATAGTGCTATTTTGCCAAATTGGACTTCTTACTGTTGTTGAATCTTTTTTCTCCTTCTGTCCTGTTGTCTCTACCTGAAGTACAATCTTCTTAATCTCCATTTCCATCTGTGAGAATTCTACTCATCAGTTACTTCCCAGCTTAATGCCACTTTCTTTCAGAAACTCCCTGAGATTCCTTCCACCATCAGTAATCGTCCCTTCATCACATGTTCTGCCTTACATTCCAGCTTCGTACATCCTCATCACCCTCTTCCTTTTTGCACTGTGAGCTCTTTGAGTTCAGGAACTGTCTTGTTCACCTTTAGATGGAGGGTGTTGGAATGATGAGGTTAGAGGAAGCCAGGTTTGAGTCCCTTCAACATTTACTCGCCATGAAACCTTGCACAAGTAAGTTACTTAACCTCTGAGTGGATTTTCCCCTCTGGAAAATGGGCATTACAACAGTACCTACCTCATGAAGCTGTTTTGAAGATTAATTGAGGTAACATACCACAGTAAAGGTTGAAATAAATGTTAATTCCTTTTTCTATACCCTTACGGTACCCTGCCCATGTAGCGCCTCATCCACACAGGCCTTCAGTGATTGGTGATTGAATAAAAAATACAGATCCAAAGTGCTTTTGTACAAAATTCACTTTTGCATTGTTGAGTCAATGGCAGATCCAGAAAAGAATCTGGGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGACAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTTGTCGTGGTGGCGGGTGCCTGTGATCCCAGCCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACTCGGCTGGGGTGGGGAGGAGGGCGGAGGTTGCAGTGAGCCGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAATCCGGGGCTGCTGAACATCCCACACTTGTGCCCACTTGCACATGCCGAGTAAGTGGAACGTTTTAATTATGTTTCATAAAGTCTCTAGAATTAAGTAGGGTTTTGTTTTAACAAACAAATTGTACTCCTTATATGAAAGATAAAATTCTATTTGGTGGTTGATTGGTTGGATTTTCAAATAAGCAGTTGCTTTCTGGTTTGCCTTGACATTTTATAAACATAACTACAGATGGAAGCTCAAAAGAGAGGCAACATAGTGTTATAGTGGAAAGATTTGATTCAGAGTTAAATTTTAGATGGTTGTTGACTGTTAACTCCTCCCCAGACAGACTTCACAAATCCCTCAATCAGTGATCGTGTTAATTCTATATATGGTTCTTCCTCTGCTTTTGTTATATTGAAGTGGCATGTCATCTCCCTTTAGAGAGTCTTATTTAATAGGTAGGAAAATCTCATACCTGATTATGAAATTTTGACTAAGCTGGGGATCTGATTCTACCTTTTTGGTGGAAGGAAACTTTTGTAATTTCTTCTTTCATTGATTATTAAACCTGTTTGGGGAGGTAGGGGTGTGTGTGGAGGGGTGTACCCCATGGAGTAAATATGCTTTCTAGGAAATTTTCTTCTTTTTTTCATCTCCCTCTAGGCCTGCACTGCCCAAAGTCTTGGAAACTTGCTGGATATGATGTACCGGGAGCCAGCACGATGGTCCTACACATTCCAGACATTTTCCTTTTTGAGCCGCCTGAAAGTACAGCTGGAGCCCTTCCCTGAGAAACTCTTACAGGCCAGGAAGCCAGTACAGATCTTTGAGAAGTCTGTGTACAGTGACAGGTAAAATGCCAAGCCCTCCACCAGTCACAAGCCCCATGCTCAGTGCTGCCTGTTTGATCTTGCACAGATCCTGCACTGCTATGGTCACTGATGATTATAATTTGAAAAATTATCTTCTTTTTTAAAGACAACACTATACAGATTTGTCCAGAGTTGTACTTCTACCAGATTGTCATCTATGTCAAGAAAGGAAATTGGGTTTTTCATCAACTGAATGCTTTGAATTTCTTACATTGCTACTGATTACCTTATGTTTCCTTATTTTCTGGCATGGAGCAAGCTGGTAGCCACCTAATGTAACCATCACATGCTAAAAGGCACATAATAGACACTTAAGTAGCAGTGTATATTCTAAGAAATCAGATGATTCAGTGGTTGATTATCCCCTTTAAGAAAAAAGCAGACGAAATTAAAATTTGTGTTCCTGAAAATGATATAAGAGATATTTTCAGCCTTTTTTTTTTATTGTTCAAGAAAGGATGCTTAGGCAGAAATAGCACATCTGAGAAACTGGCTTCTGTCTCAGATTTAGCCCTTTTTGACCCCTTCTTCTGTGAGAGGGCTTTTTGCTGGCCAGAGTCTAGTGGACATCAGTGCCTGTGTCAGATCAGGGATGGGCATCATCCTGACCACCTGAGGGAGTGAGATGTGAAGTCACTTTGAATGCAAGCTAGCAGCACCCTGGGAAGTGAGCCCATCTGCTCCAGAAGAGCTAGGCCGTGCAGGCTCCGGAATGCCTGGCTCTGCTGCAGAGACCAGGCTGTGACTTGAGGTTAAGCCGCCTAGAGACAAAGTCAGGATGGCTTGATCTGGACACTGCTGGAGTTTTTCTTATCTGAAGCCTATGAATGACCAGTGTCAGTGTGAAATAGTGCTTTCAAGCAAAACGATCTTTCTTAAGGCTCTTTGAATTATCAAAATGGGAAGTGGTACATTTTCATTGTCACTGCTGAAGACACTCAGTTGGTTACTCTTTTAATTCCAAATTAGACAAACTAGTTCTATTTCTTAGTGCTTCCGGAAAGCCTCCTAGAAGAAAAAAAATAAGGATACATTTGTAAATGACAAGTGATTTTTCTGACTTTACCCTAAAATCATGGAAGATATGTAAAACAAACCCTATAGGCTATCCGTTCCTTGTGTACGTACCCCGAGAGAGCCTACTTTTTATAAAAGCTAAATATGTGAATTACAAATGGCTGGGCTATAGGTTTTACTTCTTTTTCAGCTGTTGGATATCCCACCTGCCTGTTTTCCTCTCTTCTCTCCCAAGCCATGCCTCTCGGACTCCGAAGTTGAATTACATATAACCACATGGGTTGTTTGGAAACATAGTCAGTCTTTATTTCTAGCCGCTTCATGAAGTAGGTGTGTGAGACCCTCAGAGGAAAATAGAGAAGTAGAAACACTTTGTTAATTAGAAATGCATTAAGAAGCTGCATGGATCTTAACCTTTGCTTGTAAAGGAAGAGGTAATAATTGATTACACTGTGGGCATACAACATTCCAGGTGCTATCTTCAGTGAGGGCATTTTCGAGACAGAAAGGAAAACTAATCACAAGTTCTAATCCCGAGGGTAATTTAGACTTTGTTCACTTGCACAGATTTATTGGATGCCTCCTGTGTTGAAGCACCAAGGCTGGCCCTGGGGCTGCAGCAGTGAATAAGGCAGACCCAGTCCCTGCCTAACAGGGACTGAACACATGCTCACGTGTGTGATATTTGTTCCAAAGGAGGAACACAGGTTATCTGGGAGAGTTGATTATAGCGAGGAAGAAATCTTAGTCTTTTCTGTTTGAGTTAAAGGAAACATTAGCATATGGTTTTAGAGCAGAGGCCCTGACTCCTAGATCCTTATGCCCTGTTCTGTCCTGCAGCCCCTGCATTCAGTCTGCAGTACTTCCCTCCCACTCAGCACCACACCCTTCTGCCCCTCACCCCATCACCACCACAAGCTTTGAAGAAATAAAGGAAGTGCTCTTTCTCAAGAAAGCCAAGAACCCCTTTCATAGGGCTTATTAGCAAATC
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Task1_train_3763
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A variant affecting Chromosome 2, within the gene DGUOK (deoxyguanosine kinase), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
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GGTTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTC
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GGTTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACGCGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTC
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Task1_train_3764
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A variant on Chromosome 2 in gene DGUOK (deoxyguanosine kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; DGUOK-related disorder
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TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
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TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACAAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
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Task1_train_3765
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A variant has been detected on Chromosome 2 in DGUOK (deoxyguanosine kinase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
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TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
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TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACAAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
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Task1_train_3766
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The gene DGUOK (deoxyguanosine kinase) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Portal hypertension, noncirrhotic, 1
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TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
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TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACAAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
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Task1_train_3767
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This mutation is located in gene DGUOK (deoxyguanosine kinase) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
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TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
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TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACAAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
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Task1_train_3768
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This genomic variant is located on Chromosome 2, within the DGUOK (deoxyguanosine kinase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Inborn genetic diseases
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TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
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TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACAAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
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Task1_train_3769
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Gene DGUOK, DGUOK-AS1 (deoxyguanosine kinase| DGUOK antisense RNA 1) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
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TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAAT
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TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATTATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAAT
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Task1_train_3770
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Gene DGUOK, DGUOK-AS1 (deoxyguanosine kinase| DGUOK antisense RNA 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Portal hypertension, noncirrhotic, 1
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TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAAT
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TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATTATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAAT
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Task1_train_3771
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Gene DGUOK, DGUOK-AS1 (deoxyguanosine kinase| DGUOK antisense RNA 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
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TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAAT
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TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATTATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAAT
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Task1_train_3772
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Here’s a variant in DGUOK, DGUOK-AS1 (deoxyguanosine kinase| DGUOK antisense RNA 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
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AATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGC
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AATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCGCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGC
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Task1_train_3773
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This variant impacts the gene DCTN1 (dynactin subunit 1) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
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Pathogenic; not provided
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GCAGAGGCCCAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGG
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GCAGAGGCCCAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTGGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGG
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Task1_train_3774
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An alteration has been detected in DCTN1 (dynactin subunit 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Perry syndrome
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CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
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CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTTCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
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Task1_train_3775
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This genomic variant is located on Chromosome 2, within the DCTN1 (dynactin subunit 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Neuronopathy, distal hereditary motor, type 7B
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CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
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CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTTCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
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Task1_train_3776
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Given a variant located on Chromosome 2 and affecting DCTN1 (dynactin subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Amyotrophic lateral sclerosis type 1
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CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
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CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTTCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
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Task1_train_3777
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An alteration has been detected in DCTN1 (dynactin subunit 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Perry syndrome
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CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
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CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTTCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
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Task1_train_3778
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This mutation occurs in DCTN1 (dynactin subunit 1) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Neuronopathy, distal hereditary motor, type 7B
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AAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTC
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AAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCTATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTC
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Task1_train_3779
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Gene DCTN1 (dynactin subunit 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Perry syndrome
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AAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTC
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AAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCTATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTC
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Task1_train_3780
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Gene DCTN1 (dynactin subunit 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Perry syndrome
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TGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGG
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TGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGTCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGG
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Task1_train_3781
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A mutation found in DCTN1 (dynactin subunit 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Amyotrophic lateral sclerosis type 1
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TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
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TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCGTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
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Task1_train_3782
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This is a variant in DCTN1 (dynactin subunit 1), located on Chromosome 2. Is this mutation a likely cause of disease or not?
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Pathogenic; Perry syndrome
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TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
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TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCGTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
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Task1_train_3783
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The gene DCTN1 (dynactin subunit 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Neuronopathy, distal hereditary motor, type 7B
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TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
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TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCGTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
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Task1_train_3784
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The gene DCTN1 (dynactin subunit 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Neuronopathy, distal hereditary motor, type 7B
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TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
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TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCTTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
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Task1_train_3785
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A change on Chromosome 2 affects gene DCTN1 (dynactin subunit 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Amyotrophic lateral sclerosis type 1
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TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
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TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCTTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
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Task1_train_3786
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The following genetic variant occurs in DCTN1 (dynactin subunit 1) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Perry syndrome
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TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
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TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCTTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
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Task1_train_3787
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This variant impacts the gene MOGS (mannosyl-oligosaccharide glucosidase) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
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Pathogenic; MOGS-congenital disorder of glycosylation
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CCTCCCTTGGACCTCAGAATTTCGGCCTTCAGGGCCCCTTCTCTGCATGAAAGATGCCTGAGTTGCTCCCTCCTTGCCTCTTGCAGGGTTCTGGCTGCTCTGGACTGTCCTCATCCTCTTTAGCTGCTGTTGCGCCTTCCGCCACCGACGAGCTAAACTCAGGCTGCAACAACAGCAGCGGCAGCGTGAAATCAACTTGTTGGCCTATCATGGGGCATGCCATGGGGCTGGTCCTTTCCCTACCGGTTCACTGCTTGACCTTCGTGAGTGACTTGATGCCCTGGGTCAGCTACCAGTGGCCCTCCCCAAACCAGAACCCCAAATCGTCTCACATTCCCTTTTCCACACATTTCAAAGTATTTTTCCCTAATATAAAAACTAGCACCCTATACCTGGTTGTCTTCAACCAATCATGCCAATTTTCTCCCCTGCAGGCTTCCTCAGCACCTTCAAGCCCCCAGCCTACGAGGATGTGGTTCACCGCCCAGGCACACCACCCCCCCCTTATACTGTGGCCCCAGGCCGCCCCTTGACTGCTTCCAGTGAACAAACCTGCTGTTCCTCCTCATCCAGCTGCCCTGCCCACTTTGAAGGAACAAATGTGGAAGGTGTTTCCTCCCACCAGAGTGCCCCCCCTCATCAGGAGGGTGAGCCCGGGGCAGGGGTGACCCCTGCCTCCACACCCCCCTCCTGCCGCTATCGCCGTTTAACTGGCGACTCCGGTATTGAGCTCTGCCCTTGTCCTGCCTCCGGTGAGGGTGAGCCAGTCAAGGAGGTGAGGGTTAGTGCCACCCTGCCAGATCTGGAGGACTACTCCCCGTGTGCACTACCCCCAGAGTCTGTACCGCAGATCTTTCCCATGGGGCTGTCTTCCAGTGAAGGGGACATCCCATAAGTAGTTTTGAGAGGGTGGATGGGTTACTTGCCCACCAGAAACAGCCCTAGTCCCAACTCCTTGCGTTCCTTTGGCCCCTCCCTGCCTACCTAGAATCTGCCTGAAAGGGCTGGAGAGGGGCAGTATTGGGGGACTGTGCTAGCTTTACCCCCGCAGGACATACACAGGAGCCTTTGATCTCATTAAAGAGATGTGAACCAGCTACTTGTGGATTTGGGTGGACTAAAGCTCAACTCACTGCATTGCACTTGACCTGACTGGGTTTGAAGGGGACAGGTTATGGCCACTTGACCCCACCTTCCCTGAGGACAGCAGACAGTGCTGAGGCCTGGACTGACCTAAGGCCTCTTGGTGAGGCAAATCTGGCAAAAGCAATAGAGTTCAAAATGTTTTTTCCAATTTATTTAGAAAAATAGACTCTGGATTCACATTCACCCCAGGGCTATGTGGGATGACAGCAAGGAGACACCTGAGATGAAATGAGGAAGGTTTGAATTACTGGTATCCAAGGGGCTGGGGGCAAAAGCCAGAAGCCTTTGTCCCTTCAGAGCCAGAGTGGCATGAGTGTCTTGGCTCCCCTCCTCTCCCTCCCTTCAGTAGTCTTCAGCCATGGCCAGTAAGACAAGGCTGGTCCAGCCGTGGAAAGGGCGGCAGCCCATGCCTCGCCCATCGCGGTCACTGTACTGCTCCCAAAGAAAGCCTGTAGCCTGGTACTGGCGCCATACATTGCCTACCACGTTGGCACGGAGCTCACCGTGGAGTTTGGCAGCCCGAGCCTGGTGAGGACCCTCCAGATGCCCATAGTGGTGGAGTGCTCCCAAAGCCAGGTAGTTGACATTGAGCCACACAGCACCCCGCCAGTAGGGGGGATCATGCTCTGAATTGCGCTGGCCATAAAAGGAGCTGGAGGCTGCAAGGGAGCGTAAACCAAAGGGGCTCCAGAGATGGCGGCTGTCGGCTAGAATGTCCAGCAGGGGCCCAAGGCGGGATGAGGTGGGGTCCAGCAGTCGCAGCAGCAAGGGAAAAAGACTGACATAGCCAAGAGCATCTACATACTGCAGTTGAGGTTGGGGCCGACCCACCACCCGAACGAGCCCCTGAGGGGGCCTGGGCTTCAGCTGTACTGCTTTTGTGTGGTTCCCAAAGTCTGCAAAGACTCCTAGCTCTGGGGCCCAGTGCAGCTCATCCAGGCTCTCTGCTGCCTCCAGTGAGGCAGCCAGTGGGCCCAGCTCAGCAGCTACCTCAGCCTCACCCAGATGCTCTGCCAGCCGCGTCAGCACACGGGCACCCAGTGCCACCCAACATCGCAGGTCCAGGTGCCGCTCGGTTACTGAAGGGTGTGAAGCCCGGGGGTAGTCATCCAGCCCAGAGGGTAGGGTCTTGGGGTTCAGTAAGGTTGGTAAGGCAGGGTCCCGTCCCCGCCAGCGGTAAGATAGTGGCAGTGGGCCTGCCTGGCTCTGATGGAGCCAGGAAAACCAGGCATGCAGGCGGGGCAAGGCCTTTCGGAGGAAAGCCAAGTCGTCAGGGTCACCAACCTCTAGCATATGGGCTACAGGCAAAAGTAGGGTTGGGGGGTTGGCGTGGACTGCTCGTTGTACTAGGAATTCTGGAGGCACCCGGGCTCGGGCCTCATCCCCCAGTATCTGCTCCCTCCCAATCCAGCCATCAGCATTTAGCAGCCCCAGCCAGTGGCCAAGGGCTTCCCGGGTGAGGGAGGGATCCCACCGCTGAACCACCAGCTGGTGAAAGCCTTCATCCCAAAGGAAGCCTCGTGGGAAGAATGACCGGGAGGGCACTGCTGTAAAAAGAGGTACGGGTGGAAAGAGGGCTGGGTCCACCTTCTGCTCAGACCCTTCCACCCCGATGTCTGGCAATACCAGCCCTTGTCCGTAGAAGTAGCCAATTCCACCAAGGAGGCCGCTGAGGGCAGCCTGACCCAAAACCTGCTCGCCAGAGCTCAGGCCCTTCTCCTTCAGCTGGAAGGTCTTCTCAAAGCGCTCTCTAAAGCCTTCAGCATGGCTCTCCAGGGCCTGGGTCAGTAGACTGCCTGCCAGTCTTGGCAGGGCTTGATTTCCTCCTGCCTGGGCACTGCCTGATTCAAACACAAACTCTATGGAAATGGGAATTTTCAGGGTCACCTGCTGTATCAAGAACTGCCCCTGCCCTTGCCCACTTGGACCTCTGTCCTCCCACTTCAGGGATCCTGGCAAGCCGAGGTAGCGTTCAGGGGGGGCCCCTGGGGGCCGATGCTGAAACCAGCTATTTAGGCGACTCTTTACCATCTCTGTCAGCAGGGGCAGTCCTGGGTTGGAGGTCCAGAAGACATTGTAGCTTGAAGGGGAGAAGATAAATAGGAAATATTATTCAAGAGAAGGCAGTGGGCATTATAAAGAGAAATACAAAGTGTTCAGGAGTCAGGTTGGGAGGTCTCAGGCAGGGGACATGGAGACTGGTGAAAATGGGAATAACCACCCCTTCCATCCCCCAACATTCTTTTCCCCCAGTTACCTGCCATACTTGGGGGCTGTATCCCCTGGACTGGTTGGTGGCAAAAGTGTAAAGCGGAAGTCACCAAGTTCACTGGTGTGCCCACTGATAAACTTCAACTGCCCCTTGGCCCCAACCTCTGGTAGTAGGACTTCCTTGCCATCTGTCACCACATAGAAGAACAGGGAGACCAAAGGGAGGGCAGAAGTACCTGAGTCCTGAGTGACCAACGAGGACAGAAAAGAACAGTGTTAGATTGGCATTCTCTCTTGAATTCCCTCTTGAGAATCAGCCTTAGTGAGGGAAAGGAACAGTAGGCAGGGGTAATGTAAACAACATACGTCTGGCAGTAATGAGGGTCACTGAGGGTAACCAGGTACACCCAAGCGGGATGAGATAAAGAGCCTTGCACTGGGTGCCCTGGGAGATAACAGTATACTTTTGTACTATGTCCTACACTAAGAACTCTACACAGTTGATTTCATTTAATTCTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACAATAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCACCGTGTTAGCCAGGATGGTC
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CCTCCCTTGGACCTCAGAATTTCGGCCTTCAGGGCCCCTTCTCTGCATGAAAGATGCCTGAGTTGCTCCCTCCTTGCCTCTTGCAGGGTTCTGGCTGCTCTGGACTGTCCTCATCCTCTTTAGCTGCTGTTGCGCCTTCCGCCACCGACGAGCTAAACTCAGGCTGCAACAACAGCAGCGGCAGCGTGAAATCAACTTGTTGGCCTATCATGGGGCATGCCATGGGGCTGGTCCTTTCCCTACCGGTTCACTGCTTGACCTTCGTGAGTGACTTGATGCCCTGGGTCAGCTACCAGTGGCCCTCCCCAAACCAGAACCCCAAATCGTCTCACATTCCCTTTTCCACACATTTCAAAGTATTTTTCCCTAATATAAAAACTAGCACCCTATACCTGGTTGTCTTCAACCAATCATGCCAATTTTCTCCCCTGCAGGCTTCCTCAGCACCTTCAAGCCCCCAGCCTACGAGGATGTGGTTCACCGCCCAGGCACACCACCCCCCCCTTATACTGTGGCCCCAGGCCGCCCCTTGACTGCTTCCAGTGAACAAACCTGCTGTTCCTCCTCATCCAGCTGCCCTGCCCACTTTGAAGGAACAAATGTGGAAGGTGTTTCCTCCCACCAGAGTGCCCCCCCTCATCAGGAGGGTGAGCCCGGGGCAGGGGTGACCCCTGCCTCCACACCCCCCTCCTGCCGCTATCGCCGTTTAACTGGCGACTCCGGTATTGAGCTCTGCCCTTGTCCTGCCTCCGGTGAGGGTGAGCCAGTCAAGGAGGTGAGGGTTAGTGCCACCCTGCCAGATCTGGAGGACTACTCCCCGTGTGCACTACCCCCAGAGTCTGTACCGCAGATCTTTCCCATGGGGCTGTCTTCCAGTGAAGGGGACATCCCATAAGTAGTTTTGAGAGGGTGGATGGGTTACTTGCCCACCAGAAACAGCCCTAGTCCCAACTCCTTGCGTTCCTTTGGCCCCTCCCTGCCTACCTAGAATCTGCCTGAAAGGGCTGGAGAGGGGCAGTATTGGGGGACTGTGCTAGCTTTACCCCCGCAGGACATACACAGGAGCCTTTGATCTCATTAAAGAGATGTGAACCAGCTACTTGTGGATTTGGGTGGACTAAAGCTCAACTCACTGCATTGCACTTGACCTGACTGGGTTTGAAGGGGACAGGTTATGGCCACTTGACCCCACCTTCCCTGAGGACAGCAGACAGTGCTGAGGCCTGGACTGACCTAAGGCCTCTTGGTGAGGCAAATCTGGCAAAAGCAATAGAGTTCAAAATGTTTTTTCCAATTTATTTAGAAAAATAGACTCTGGATTCACATTCACCCCAGGGCTATGTGGGATGACAGCAAGGAGACACCTGAGATGAAATGAGGAAGGTTTGAATTACTGGTATCCAAGGGGCTGGGGGCAAAAGCCAGAAGCCTTTGTCCCTTCAGAGCCAGAGTGGCATGAGTGTCTTGGCTCCCCTCCTCTCCCTCCCTTCAGTAGTCTTCAGCCATGGCCAGTAAGACAAGGCTGGTCCAGCCGTGGAAAGGGCGGCAGCCCATGCCTCGCCCATCGCGGTCACTGTACTGCTCCCAAAGAAAGCCTGTAGCCTGGTACTGGCGCCATACATTGCCTACCACGTTGGCACGGAGCTCACCGTGGAGTTTGGCAGCCCGAGCCTGGTGAGGACCCTCCAGATGCCCATAGTGGTGGAGTGCTCCCAAAGCCAGGTAGTTGACATTGAGCCACACAGCACCCCGCCAGTAGGGGGGATCATGCTCTGAATTGCGCTGGCCATAAAAGGAGCTGGAGGCTGCAAGGGAGCGTAAACCAAAGGGGCTCCAGAGATGGCGGCTGTCGGCTAGAATGTCCAGCAGGGGCCCAAGGCGGGATGAGGTGGGGTCCAGCAGTCGCAGCAGCAAGGGAAAAAGACTGACATAGCCAAGAGCATCTACATACTGCAGTTGAGGTTGGGGCCGACCCACCACCCGAACGAGCCCCTGAGGGGGCCTGGGCTTCAGCTGTACTGCTTTTGTGTGGTTCCCAAAGTCTGCAAGGACTCCTAGCTCTGGGGCCCAGTGCAGCTCATCCAGGCTCTCTGCTGCCTCCAGTGAGGCAGCCAGTGGGCCCAGCTCAGCAGCTACCTCAGCCTCACCCAGATGCTCTGCCAGCCGCGTCAGCACACGGGCACCCAGTGCCACCCAACATCGCAGGTCCAGGTGCCGCTCGGTTACTGAAGGGTGTGAAGCCCGGGGGTAGTCATCCAGCCCAGAGGGTAGGGTCTTGGGGTTCAGTAAGGTTGGTAAGGCAGGGTCCCGTCCCCGCCAGCGGTAAGATAGTGGCAGTGGGCCTGCCTGGCTCTGATGGAGCCAGGAAAACCAGGCATGCAGGCGGGGCAAGGCCTTTCGGAGGAAAGCCAAGTCGTCAGGGTCACCAACCTCTAGCATATGGGCTACAGGCAAAAGTAGGGTTGGGGGGTTGGCGTGGACTGCTCGTTGTACTAGGAATTCTGGAGGCACCCGGGCTCGGGCCTCATCCCCCAGTATCTGCTCCCTCCCAATCCAGCCATCAGCATTTAGCAGCCCCAGCCAGTGGCCAAGGGCTTCCCGGGTGAGGGAGGGATCCCACCGCTGAACCACCAGCTGGTGAAAGCCTTCATCCCAAAGGAAGCCTCGTGGGAAGAATGACCGGGAGGGCACTGCTGTAAAAAGAGGTACGGGTGGAAAGAGGGCTGGGTCCACCTTCTGCTCAGACCCTTCCACCCCGATGTCTGGCAATACCAGCCCTTGTCCGTAGAAGTAGCCAATTCCACCAAGGAGGCCGCTGAGGGCAGCCTGACCCAAAACCTGCTCGCCAGAGCTCAGGCCCTTCTCCTTCAGCTGGAAGGTCTTCTCAAAGCGCTCTCTAAAGCCTTCAGCATGGCTCTCCAGGGCCTGGGTCAGTAGACTGCCTGCCAGTCTTGGCAGGGCTTGATTTCCTCCTGCCTGGGCACTGCCTGATTCAAACACAAACTCTATGGAAATGGGAATTTTCAGGGTCACCTGCTGTATCAAGAACTGCCCCTGCCCTTGCCCACTTGGACCTCTGTCCTCCCACTTCAGGGATCCTGGCAAGCCGAGGTAGCGTTCAGGGGGGGCCCCTGGGGGCCGATGCTGAAACCAGCTATTTAGGCGACTCTTTACCATCTCTGTCAGCAGGGGCAGTCCTGGGTTGGAGGTCCAGAAGACATTGTAGCTTGAAGGGGAGAAGATAAATAGGAAATATTATTCAAGAGAAGGCAGTGGGCATTATAAAGAGAAATACAAAGTGTTCAGGAGTCAGGTTGGGAGGTCTCAGGCAGGGGACATGGAGACTGGTGAAAATGGGAATAACCACCCCTTCCATCCCCCAACATTCTTTTCCCCCAGTTACCTGCCATACTTGGGGGCTGTATCCCCTGGACTGGTTGGTGGCAAAAGTGTAAAGCGGAAGTCACCAAGTTCACTGGTGTGCCCACTGATAAACTTCAACTGCCCCTTGGCCCCAACCTCTGGTAGTAGGACTTCCTTGCCATCTGTCACCACATAGAAGAACAGGGAGACCAAAGGGAGGGCAGAAGTACCTGAGTCCTGAGTGACCAACGAGGACAGAAAAGAACAGTGTTAGATTGGCATTCTCTCTTGAATTCCCTCTTGAGAATCAGCCTTAGTGAGGGAAAGGAACAGTAGGCAGGGGTAATGTAAACAACATACGTCTGGCAGTAATGAGGGTCACTGAGGGTAACCAGGTACACCCAAGCGGGATGAGATAAAGAGCCTTGCACTGGGTGCCCTGGGAGATAACAGTATACTTTTGTACTATGTCCTACACTAAGAACTCTACACAGTTGATTTCATTTAATTCTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACAATAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCACCGTGTTAGCCAGGATGGTC
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Task1_train_3788
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A variant on Chromosome 2 in gene MOGS (mannosyl-oligosaccharide glucosidase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; MOGS-congenital disorder of glycosylation
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CCCCCCCTTATACTGTGGCCCCAGGCCGCCCCTTGACTGCTTCCAGTGAACAAACCTGCTGTTCCTCCTCATCCAGCTGCCCTGCCCACTTTGAAGGAACAAATGTGGAAGGTGTTTCCTCCCACCAGAGTGCCCCCCCTCATCAGGAGGGTGAGCCCGGGGCAGGGGTGACCCCTGCCTCCACACCCCCCTCCTGCCGCTATCGCCGTTTAACTGGCGACTCCGGTATTGAGCTCTGCCCTTGTCCTGCCTCCGGTGAGGGTGAGCCAGTCAAGGAGGTGAGGGTTAGTGCCACCCTGCCAGATCTGGAGGACTACTCCCCGTGTGCACTACCCCCAGAGTCTGTACCGCAGATCTTTCCCATGGGGCTGTCTTCCAGTGAAGGGGACATCCCATAAGTAGTTTTGAGAGGGTGGATGGGTTACTTGCCCACCAGAAACAGCCCTAGTCCCAACTCCTTGCGTTCCTTTGGCCCCTCCCTGCCTACCTAGAATCTGCCTGAAAGGGCTGGAGAGGGGCAGTATTGGGGGACTGTGCTAGCTTTACCCCCGCAGGACATACACAGGAGCCTTTGATCTCATTAAAGAGATGTGAACCAGCTACTTGTGGATTTGGGTGGACTAAAGCTCAACTCACTGCATTGCACTTGACCTGACTGGGTTTGAAGGGGACAGGTTATGGCCACTTGACCCCACCTTCCCTGAGGACAGCAGACAGTGCTGAGGCCTGGACTGACCTAAGGCCTCTTGGTGAGGCAAATCTGGCAAAAGCAATAGAGTTCAAAATGTTTTTTCCAATTTATTTAGAAAAATAGACTCTGGATTCACATTCACCCCAGGGCTATGTGGGATGACAGCAAGGAGACACCTGAGATGAAATGAGGAAGGTTTGAATTACTGGTATCCAAGGGGCTGGGGGCAAAAGCCAGAAGCCTTTGTCCCTTCAGAGCCAGAGTGGCATGAGTGTCTTGGCTCCCCTCCTCTCCCTCCCTTCAGTAGTCTTCAGCCATGGCCAGTAAGACAAGGCTGGTCCAGCCGTGGAAAGGGCGGCAGCCCATGCCTCGCCCATCGCGGTCACTGTACTGCTCCCAAAGAAAGCCTGTAGCCTGGTACTGGCGCCATACATTGCCTACCACGTTGGCACGGAGCTCACCGTGGAGTTTGGCAGCCCGAGCCTGGTGAGGACCCTCCAGATGCCCATAGTGGTGGAGTGCTCCCAAAGCCAGGTAGTTGACATTGAGCCACACAGCACCCCGCCAGTAGGGGGGATCATGCTCTGAATTGCGCTGGCCATAAAAGGAGCTGGAGGCTGCAAGGGAGCGTAAACCAAAGGGGCTCCAGAGATGGCGGCTGTCGGCTAGAATGTCCAGCAGGGGCCCAAGGCGGGATGAGGTGGGGTCCAGCAGTCGCAGCAGCAAGGGAAAAAGACTGACATAGCCAAGAGCATCTACATACTGCAGTTGAGGTTGGGGCCGACCCACCACCCGAACGAGCCCCTGAGGGGGCCTGGGCTTCAGCTGTACTGCTTTTGTGTGGTTCCCAAAGTCTGCAAAGACTCCTAGCTCTGGGGCCCAGTGCAGCTCATCCAGGCTCTCTGCTGCCTCCAGTGAGGCAGCCAGTGGGCCCAGCTCAGCAGCTACCTCAGCCTCACCCAGATGCTCTGCCAGCCGCGTCAGCACACGGGCACCCAGTGCCACCCAACATCGCAGGTCCAGGTGCCGCTCGGTTACTGAAGGGTGTGAAGCCCGGGGGTAGTCATCCAGCCCAGAGGGTAGGGTCTTGGGGTTCAGTAAGGTTGGTAAGGCAGGGTCCCGTCCCCGCCAGCGGTAAGATAGTGGCAGTGGGCCTGCCTGGCTCTGATGGAGCCAGGAAAACCAGGCATGCAGGCGGGGCAAGGCCTTTCGGAGGAAAGCCAAGTCGTCAGGGTCACCAACCTCTAGCATATGGGCTACAGGCAAAAGTAGGGTTGGGGGGTTGGCGTGGACTGCTCGTTGTACTAGGAATTCTGGAGGCACCCGGGCTCGGGCCTCATCCCCCAGTATCTGCTCCCTCCCAATCCAGCCATCAGCATTTAGCAGCCCCAGCCAGTGGCCAAGGGCTTCCCGGGTGAGGGAGGGATCCCACCGCTGAACCACCAGCTGGTGAAAGCCTTCATCCCAAAGGAAGCCTCGTGGGAAGAATGACCGGGAGGGCACTGCTGTAAAAAGAGGTACGGGTGGAAAGAGGGCTGGGTCCACCTTCTGCTCAGACCCTTCCACCCCGATGTCTGGCAATACCAGCCCTTGTCCGTAGAAGTAGCCAATTCCACCAAGGAGGCCGCTGAGGGCAGCCTGACCCAAAACCTGCTCGCCAGAGCTCAGGCCCTTCTCCTTCAGCTGGAAGGTCTTCTCAAAGCGCTCTCTAAAGCCTTCAGCATGGCTCTCCAGGGCCTGGGTCAGTAGACTGCCTGCCAGTCTTGGCAGGGCTTGATTTCCTCCTGCCTGGGCACTGCCTGATTCAAACACAAACTCTATGGAAATGGGAATTTTCAGGGTCACCTGCTGTATCAAGAACTGCCCCTGCCCTTGCCCACTTGGACCTCTGTCCTCCCACTTCAGGGATCCTGGCAAGCCGAGGTAGCGTTCAGGGGGGGCCCCTGGGGGCCGATGCTGAAACCAGCTATTTAGGCGACTCTTTACCATCTCTGTCAGCAGGGGCAGTCCTGGGTTGGAGGTCCAGAAGACATTGTAGCTTGAAGGGGAGAAGATAAATAGGAAATATTATTCAAGAGAAGGCAGTGGGCATTATAAAGAGAAATACAAAGTGTTCAGGAGTCAGGTTGGGAGGTCTCAGGCAGGGGACATGGAGACTGGTGAAAATGGGAATAACCACCCCTTCCATCCCCCAACATTCTTTTCCCCCAGTTACCTGCCATACTTGGGGGCTGTATCCCCTGGACTGGTTGGTGGCAAAAGTGTAAAGCGGAAGTCACCAAGTTCACTGGTGTGCCCACTGATAAACTTCAACTGCCCCTTGGCCCCAACCTCTGGTAGTAGGACTTCCTTGCCATCTGTCACCACATAGAAGAACAGGGAGACCAAAGGGAGGGCAGAAGTACCTGAGTCCTGAGTGACCAACGAGGACAGAAAAGAACAGTGTTAGATTGGCATTCTCTCTTGAATTCCCTCTTGAGAATCAGCCTTAGTGAGGGAAAGGAACAGTAGGCAGGGGTAATGTAAACAACATACGTCTGGCAGTAATGAGGGTCACTGAGGGTAACCAGGTACACCCAAGCGGGATGAGATAAAGAGCCTTGCACTGGGTGCCCTGGGAGATAACAGTATACTTTTGTACTATGTCCTACACTAAGAACTCTACACAGTTGATTTCATTTAATTCTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACAATAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTTTTTTTTTTTTCTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCAGCGCAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTTGGATCACAGGCATGCGCCACCACGCCCGGCTAATTTTATATTTTCAGTAGAGACGGTGTTTCTCCATTTTGGTCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCAGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTTTCATTTAATTCTTACAGTCCTGTGAGTTAAGTGCTATTATTATCTACATTGTACATTTTACAAGCAAGGAAATCAAGGCTTAGAGATGGTAAATAGAAATGGTTATACAGGCAGT
|
CCCCCCCTTATACTGTGGCCCCAGGCCGCCCCTTGACTGCTTCCAGTGAACAAACCTGCTGTTCCTCCTCATCCAGCTGCCCTGCCCACTTTGAAGGAACAAATGTGGAAGGTGTTTCCTCCCACCAGAGTGCCCCCCCTCATCAGGAGGGTGAGCCCGGGGCAGGGGTGACCCCTGCCTCCACACCCCCCTCCTGCCGCTATCGCCGTTTAACTGGCGACTCCGGTATTGAGCTCTGCCCTTGTCCTGCCTCCGGTGAGGGTGAGCCAGTCAAGGAGGTGAGGGTTAGTGCCACCCTGCCAGATCTGGAGGACTACTCCCCGTGTGCACTACCCCCAGAGTCTGTACCGCAGATCTTTCCCATGGGGCTGTCTTCCAGTGAAGGGGACATCCCATAAGTAGTTTTGAGAGGGTGGATGGGTTACTTGCCCACCAGAAACAGCCCTAGTCCCAACTCCTTGCGTTCCTTTGGCCCCTCCCTGCCTACCTAGAATCTGCCTGAAAGGGCTGGAGAGGGGCAGTATTGGGGGACTGTGCTAGCTTTACCCCCGCAGGACATACACAGGAGCCTTTGATCTCATTAAAGAGATGTGAACCAGCTACTTGTGGATTTGGGTGGACTAAAGCTCAACTCACTGCATTGCACTTGACCTGACTGGGTTTGAAGGGGACAGGTTATGGCCACTTGACCCCACCTTCCCTGAGGACAGCAGACAGTGCTGAGGCCTGGACTGACCTAAGGCCTCTTGGTGAGGCAAATCTGGCAAAAGCAATAGAGTTCAAAATGTTTTTTCCAATTTATTTAGAAAAATAGACTCTGGATTCACATTCACCCCAGGGCTATGTGGGATGACAGCAAGGAGACACCTGAGATGAAATGAGGAAGGTTTGAATTACTGGTATCCAAGGGGCTGGGGGCAAAAGCCAGAAGCCTTTGTCCCTTCAGAGCCAGAGTGGCATGAGTGTCTTGGCTCCCCTCCTCTCCCTCCCTTCAGTAGTCTTCAGCCATGGCCAGTAAGACAAGGCTGGTCCAGCCGTGGAAAGGGCGGCAGCCCATGCCTCGCCCATCGCGGTCACTGTACTGCTCCCAAAGAAAGCCTGTAGCCTGGTACTGGCGCCATACATTGCCTACCACGTTGGCACGGAGCTCACCGTGGAGTTTGGCAGCCCGAGCCTGGTGAGGACCCTCCAGATGCCCATAGTGGTGGAGTGCTCCCAAAGCCAGGTAGTTGACATTGAGCCACACAGCACCCCGCCAGTAGGGGGGATCATGCTCTGAATTGCGCTGGCCATAAAAGGAGCTGGAGGCTGCAAGGGAGCGTAAACCAAAGGGGCTCCAGAGATGGCGGCTGTCGGCTAGAATGTCCAGCAGGGGCCCAAGGCGGGATGAGGTGGGGTCCAGCAGTCGCAGCAGCAAGGGAAAAAGACTGACATAGCCAAGAGCATCTACATACTGCAGTTGAGGTTGGGGCCGACCCACCACCCGAACGAGCCCCTGAGGGGGCCTGGGCTTCAGCTGTACTGCTTTTGTGTGGTTCCCAAAGTCTGCAAAGACTCCTAGCTCTGGGGCCCAGTGCAGCTCATCCAGGCTCTCTGCTGCCTCCAGTGAGGCAGCCAGTGGGCCCAGCTCAGCAGCTACCTCAGCCTCACCCAGATGCTCTGCCAGCCGCGTCAGCACACGGGCACCCAGTGCCACCCAACATCGCAGGTCCAGGTGCCGCTCGGTTACTGAAGGGTGTGAAGCCCGGGGGTAGTCATCCAGCCCAGAGGGTAGGGTCTTGGGGTTCAGTAAGGTTGGTAAGGCAGGGTCCCGTCCCCGCCAGCGGTAAGATAGTGGCAGTGGGCCTGCCTGGCTCTGATGGAGCCAGGAAAACCAGGCATGCAGGCGGGGCAAGGCCTTTCGGAGGAAAGCCAAGTCGTCAGGGTCACCAACCTCTAGCATATGGGCTACAGGCAAAAGTAGGGTTGGGGGGTTGGCGTGGACTGCTCGTTGTACTAGGAATTCTGGAGGCACCCGGGCTCGGGCCTCATCCCCCAGTATCTGCTCCGTCCCAATCCAGCCATCAGCATTTAGCAGCCCCAGCCAGTGGCCAAGGGCTTCCCGGGTGAGGGAGGGATCCCACCGCTGAACCACCAGCTGGTGAAAGCCTTCATCCCAAAGGAAGCCTCGTGGGAAGAATGACCGGGAGGGCACTGCTGTAAAAAGAGGTACGGGTGGAAAGAGGGCTGGGTCCACCTTCTGCTCAGACCCTTCCACCCCGATGTCTGGCAATACCAGCCCTTGTCCGTAGAAGTAGCCAATTCCACCAAGGAGGCCGCTGAGGGCAGCCTGACCCAAAACCTGCTCGCCAGAGCTCAGGCCCTTCTCCTTCAGCTGGAAGGTCTTCTCAAAGCGCTCTCTAAAGCCTTCAGCATGGCTCTCCAGGGCCTGGGTCAGTAGACTGCCTGCCAGTCTTGGCAGGGCTTGATTTCCTCCTGCCTGGGCACTGCCTGATTCAAACACAAACTCTATGGAAATGGGAATTTTCAGGGTCACCTGCTGTATCAAGAACTGCCCCTGCCCTTGCCCACTTGGACCTCTGTCCTCCCACTTCAGGGATCCTGGCAAGCCGAGGTAGCGTTCAGGGGGGGCCCCTGGGGGCCGATGCTGAAACCAGCTATTTAGGCGACTCTTTACCATCTCTGTCAGCAGGGGCAGTCCTGGGTTGGAGGTCCAGAAGACATTGTAGCTTGAAGGGGAGAAGATAAATAGGAAATATTATTCAAGAGAAGGCAGTGGGCATTATAAAGAGAAATACAAAGTGTTCAGGAGTCAGGTTGGGAGGTCTCAGGCAGGGGACATGGAGACTGGTGAAAATGGGAATAACCACCCCTTCCATCCCCCAACATTCTTTTCCCCCAGTTACCTGCCATACTTGGGGGCTGTATCCCCTGGACTGGTTGGTGGCAAAAGTGTAAAGCGGAAGTCACCAAGTTCACTGGTGTGCCCACTGATAAACTTCAACTGCCCCTTGGCCCCAACCTCTGGTAGTAGGACTTCCTTGCCATCTGTCACCACATAGAAGAACAGGGAGACCAAAGGGAGGGCAGAAGTACCTGAGTCCTGAGTGACCAACGAGGACAGAAAAGAACAGTGTTAGATTGGCATTCTCTCTTGAATTCCCTCTTGAGAATCAGCCTTAGTGAGGGAAAGGAACAGTAGGCAGGGGTAATGTAAACAACATACGTCTGGCAGTAATGAGGGTCACTGAGGGTAACCAGGTACACCCAAGCGGGATGAGATAAAGAGCCTTGCACTGGGTGCCCTGGGAGATAACAGTATACTTTTGTACTATGTCCTACACTAAGAACTCTACACAGTTGATTTCATTTAATTCTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACAATAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTTTTTTTTTTTTCTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCAGCGCAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTTGGATCACAGGCATGCGCCACCACGCCCGGCTAATTTTATATTTTCAGTAGAGACGGTGTTTCTCCATTTTGGTCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCAGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTTTCATTTAATTCTTACAGTCCTGTGAGTTAAGTGCTATTATTATCTACATTGTACATTTTACAAGCAAGGAAATCAAGGCTTAGAGATGGTAAATAGAAATGGTTATACAGGCAGT
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Task1_train_3789
|
This is a variant in HTRA2, LOXL3 (HtrA serine peptidase 2| lysyl oxidase like 3), located on Chromosome 2. Is this mutation a likely cause of disease or not?
|
Pathogenic; not provided
|
GTGGTGGCTGCCGATGGGCTCATTGTCACCAACGCCCATGTGGTGGCTGATCGGCGCAGAGTCCGTGTGAGACTGCTAAGCGGCGACACGTATGAGGCCGTGGTCACAGCTGTGGATCCCGTGGCAGACATCGCAACGCTGAGGATTCAGACTAAGGTGGGGGCTGGGGTAGGCCAGGTCTGGTTGGAGCTGCTTATTTGCTCGCATCTTCAGATGACAGGTCTCTTTTACCCATTCTCCCTTAGGAGCCTCTCCCCACGCTGCCTCTGGGACGCTCAGCTGATGTCCGGCAAGGGGAGTTTGTTGTTGCCATGGGAAGTCCCTTTGCACTGCAGAACACGATCACATCCGGCATTGTTAGCTCTGCTCAGCGTCCAGCCAGAGACCTGGGACTCCCCCAAACCAATGTGGAATACATTCAAACTGATGCAGCTATTGATGTGCGTCCTGATAGGAGAGAAATGACAAATGATGGGGGAGGGGGGAGAGGCTGTGTGGTACAAGCACCAACTGATATATGGTGGATGAGCCTATATAGAGCTTAGGCTGCAAAAATGTGGCCACTTATTCATGGGCTGAGAAAGAAGAGAATTTGGAGAAAGTACCTACATCCTGGTATGCCCCCAGACTTAGAATCCCCAGATCTCTTTCATGTTTTCTCCTTGTCCTACAGTTTGGAAACTCTGGAGGTCCCCTGGTTAACCTGGTGAGTGAGACATCCTTCCTTCCAAGAATCCCTGCCCCAGGTCAGTGTGGGAAGGGTAGGTTTCCCCTAATTCAAGGATGTTTGGTCAAGTTTCTGAGCAGTTCTTTGTTGGCTATCTCTCAATATCCAACCAGATCTCCCCAACACTTGCTGGTACTTTTGTTCGGGTGCCCCCATCCCCTACTATTTGTTTAGGCTAGGGAACTGGGGGCTGTATCCCTGCAGGATGGGGAGGTGATTGGAGTGAACACCATGAAGGTCACAGCTGGAATCTCCTTTGCCATCCCTTCTGATCGTCTTCGAGAGTTTCTGCATCGTGGGGAAAAGAAGAGTGAGCCTGCCTTATGGGGAAACGGGTTCCTTTAATGTGGTGGAAATAGGGGAAGGGCATTCAGTGGGACTTCCTGGAGGGTGGTCTACTGGGAGAAGAGGGCAGGGAAGGAAGGATGTAGCTGGGTGGGGCTCATTTGTCCCTCTGTCACAGATTCCTCCTCCGGAATCAGTGGGTCCCAGCGGCGCTACATTGGGGTGATGATGCTGACCCTGAGTCCCAGGTATGAGCTTTAGGGACAGTGACATGTAATGTGACCAGTGTAATCAGAGGGGGGCACCTCTATTGAGCTTTGTTCTCATTTCTGTCTTTATCTAAGATGAACTGTGTCACACTTGAAATAATCACAAGAGCTGTCTCCCTTCATCATCTTGACTTTCTTATCCCACTCCACTTTGTACACCTGTCACCAGATTGATTTCATCCTGTTACTGCTTTGATTTCAAGCCTTCAATCCATTAACTTGGCATTTAAGGGCCATTTTCCATCTGTCTGTAAATCAACTTTCTAGACCTGGCTGTAATACCTTCCTATATGAATACTCAGCCAACCTGATTTCCTACTCCCATGTTTTTTATTTATGCTGTTCTTGTTTTATATGGTTAATATCAGATCCATCCTTTTAGGCTCAACTTAAGTTCTTTCCCCTTAAAGCTTCTCTTAGTATTCTAGAATGACATTAGTGCTATTGATTTAACACTGTTTGTCATTTGGTGCCCTCATGTGGTGTACATCTTTTATGTACATGTTGCACTTTATTGCTAGAAGACAGAAAGTGAGTTGCCATTGTATTTTGTAGTACCTAGCCCATGTCCTGTCCATATATTTATCAATGTGTTGATGAGAGACTTGAGGTGGAACTCAGGATGGGGAGAATGCCTGGGTTTGGCTAATAGGGTGATCTGTGTACTTTCAGCATCCTTGCTGAACTACAGCTTCGAGAACCAAGCTTTCCCGATGTTCAGCATGGTGTACTCATCCATAAAGTCATCCTGGGCTCCCCTGCACACCGGTGAGGGAGAGGCTGCAGTGTGATATGGGGATGGGCAAGGTGTGCATGTGTCCTTGAACTAGGCTTTGTACTCCTTCCTTTCTCTCTGTCCATTTTTCTCTATAGGGCTGGTCTGCGGCCTGGTGATGTGATTTTGGCCATTGGGGAGCAGATGGTACAAAATGCTGAAGATGTTTATGAAGCTGTTCGAACCCAATCCCAGTTGGCAGTGCAGATCCGGCGGGGACGAGAAACACTGACCTTATATGTGACCCCTGAGGTCACAGAATGAATAGATCACCAAGAGTATGAGGCTCCTGCTCTGATTTCCTCCTTGCCTTTCTGGCTGAGGTTCTGAGGGCACCGAGACAGAGGGTTAAATGAACCAGTGGGGGCAGGTCCCTCCAACCACCAGCACTGACTCCTGGGCTCTGAAGAATCACAGAAACACTTTTTATATAAAATAAAATTATACCTAGCAACATATTATAGTAAAAAATGAGGTGGGAGGGCTGGATCTTTTCCCCCACCAAAAGGCTAGAGGTAAAGCTGTATCCCCCTAAACTTAGGGGAGATACTGGAGCTGACCATCCTGACCTCCTATTAAAGAAAATGAGCTGCTGCCATCTTTTGTGGGCAGTTAGTCAGGTGCTGCTCTTTGTGGTGTGGTGGGCTCTGGTCTGTTCTGCTCGGTGCTGGGCCTGGGAGCAAAGATTCCCATGCTTGGCTACAGATACTGACAGCTGGCCTCTGAAGGAGGGTGAAAACTTCTGCTTGACAGTTCCACATCCATAGTGCATGGTCTGATGAGTGCGGTTGCTGACATGGGTTTCTTGGTAAGCTCCTGAGGTAATGGCAGCCTCAGACCCCTGCCATTAGGGGCCAGTGGTGGTTTGCAGAGGGCAGTGGCACTTAGATAATCTGGTTGCTGGTCTGGCCAGGGTAGCGTTCAAACCTCCTGTTGGCCTCTTCACTGAAGGCATCACCTGCAGAGTGGACAGGCAATTTGGGAGGCGCCCTGCACAGAGGGAGGGAGATAGATGCACTGTGGAGAAGGGTGGGTAGAAGTGGAGGGACTGAGAGCTCTACAGGAAGGTGGGAAGATGGAGAAACAAGCTATGGAAAAGAGAATGAACGTCTTTCCCTCCCATCCCCTAATCTTCCTGGGTTGCTCTTCCCATCAAATACCAATGTGGCAGTTGTGCACCCAGATTCTATGTCCATCATATTTGCAGTTACATTTCATTGCATTGTTGGTAAAGTCACTCTCTGCTACTTCAAAGTTTGGGTTGATGACAACCTGTGAGTGAGAAAAAGGCCACTTAACCCAGCGACAATCCTCGAATTCAAAGGTGTCTTTAACGCTCCCCCCACTCACCCATCTGGAAGCCCCAGACTCCAGGTACCTGGAGAATGTAGTTTCCTGGCTTCACATCCGTGATGTCAATCCACTGACAGTCAATGTCATGCCGGTAGAGATCCCAGCAACCCACAGTGATGCCTTGCTCTCCAAAGTTGGCACACTCATACCGCTTGGAGACATCTGGAGGGATTGGCATATGTCAGTGTAAGGAAAGGCTGTGCAATGGATACCATGTGGTTCACTTCAGTCCCCAACTCACCCTCCTGACACTCAGTGTCTTCGAGACAGAAACTAGCTTTGTGGCCCTCAGCCACCTTGGTGCCATTTGGGGTGAGGATATCATAGTGAGTGAAGATGTCCATGCTGTGGTAATGCCTGTGGGGAGAAGGGAACTTCTGTTTCCTTCTCTGCCCCCAGAAGGTTTGCCCCATCCCCCGTGGTCTTGCCCTTCTACTTGACTCCCTACCCTCTCACCCATGGCACTCGTGCCACACCCAGGAGTGGCGCCCAGCCTTGGGCCTGAAGTCAGCTCGTCCCAGGTTGTGGATCTGGGAGGAGAATCGGAGCAGACGCCGGTGACCATAGGGCCAGTTGGCTGAGCGGGCTGAGCTGGCCAGGCAGTTCTCTTCCGCAGCACAGTACAACATATGCAGGGGCCGGTCTTCGATGTAGGCGGTCTCCTGCACCAGTGCTGAGTGCAGCAAC
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GTGGTGGCTGCCGATGGGCTCATTGTCACCAACGCCCATGTGGTGGCTGATCGGCGCAGAGTCCGTGTGAGACTGCTAAGCGGCGACACGTATGAGGCCGTGGTCACAGCTGTGGATCCCGTGGCAGACATCGCAACGCTGAGGATTCAGACTAAGGTGGGGGCTGGGGTAGGCCAGGTCTGGTTGGAGCTGCTTATTTGCTCGCATCTTCAGATGACAGGTCTCTTTTACCCATTCTCCCTTAGGAGCCTCTCCCCACGCTGCCTCTGGGACGCTCAGCTGATGTCCGGCAAGGGGAGTTTGTTGTTGCCATGGGAAGTCCCTTTGCACTGCAGAACACGATCACATCCGGCATTGTTAGCTCTGCTCAGCGTCCAGCCAGAGACCTGGGACTCCCCCAAACCAATGTGGAATACATTCAAACTGATGCAGCTATTGATGTGCGTCCTGATAGGAGAGAAATGACAAATGATGGGGGAGGGGGGAGAGGCTGTGTGGTACAAGCACCAACTGATATATGGTGGATGAGCCTATATAGAGCTTAGGCTGCAAAAATGTGGCCACTTATTCATGGGCTGAGAAAGAAGAGAATTTGGAGAAAGTACCTACATCCTGGTATGCCCCCAGACTTAGAATCCCCAGATCTCTTTCATGTTTTCTCCTTGTCCTACAGTTTGGAAACTCTGGAGGTCCCCTGGTTAACCTGGTGAGTGAGACATCCTTCCTTCCAAGAATCCCTGCCCCAGGTCAGTGTGGGAAGGGTAGGTTTCCCCTAATTCAAGGATGTTTGGTCAAGTTTCTGAGCAGTTCTTTGTTGGCTATCTCTCAATATCCAACCAGATCTCCCCAACACTTGCTGGTACTTTTGTTCGGGTGCCCCCATCCCCTACTATTTGTTTAGGCTAGGGAACTGGGGGCTGTATCCCTGCAGGATGGGGAGGTGATTGGAGTGAACACCATGAAGGTCACAGCTGGAATCTCCTTTGCCATCCCTTCTGATCGTCTTCGAGAGTTTCTGCATCGTGGGGAAAAGAAGAGTGAGCCTGCCTTATGGGGAAACGGGTTCCTTTAATGTGGTGGAAATAGGGGAAGGGCATTCAGTGGGACTTCCTGGAGGGTGGTCTACTGGGAGAAGAGGGCAGGGAAGGAAGGATGTAGCTGGGTGGGGCTCATTTGTCCCTCTGTCACAGATTCCTCCTCCGGAATCAGTGGGTCCCAGCGGCGCTACATTGGGGTGATGATGCTGACCCTGAGTCCCAGGTATGAGCTTTAGGGACAGTGACATGTAATGTGACCAGTGTAATCAGAGGGGGGCACCTCTATTGAGCTTTGTTCTCATTTCTGTCTTTATCTAAGATGAACTGTGTCACACTTGAAATAATCACAAGAGCTGTCTCCCTTCATCATCTTGACTTTCTTATCCCACTCCACTTTGTACACCTGTCACCAGATTGATTTCATCCTGTTACTGCTTTGATTTCAAGCCTTCAATCCATTAACTTGGCATTTAAGGGCCATTTTCCATCTGTCTGTAAATCAACTTTCTAGACCTGGCTGTAATACCTTCCTATATGAATACTCAGCCAACCTGATTTCCTACTCCCATGTTTTTTATTTATGCTGTTCTTGTTTTATATGGTTAATATCAGATCCATCCTTTTAGGCTCAACTTAAGTTCTTTCCCCTTAAAGCTTCTCTTAGTATTCTAGAATGACATTAGTGCTATTGATTTAACACTGTTTGTCATTTGGTGCCCTCATGTGGTGTACATCTTTTATGTACATGTTGCACTTTATTGCTAGAAGACAGAAAGTGAGTTGCCATTGTATTTTGTAGTACCTAGCCCATGTCCTGTCCATATATTTATCAATGTGTTGATGAGAGACTTGAGGTGGAACTCAGGATGGGGAGAATGCCTGGGTTTGGCTAATAGGGTGATCTGTGTACTTTCAGCATCCTTGCTGAACTACAGCTTCGAGAACCAAGCTTTCCCGATGTTCAGCATGGTGTACTCATCCATAAAGTCATCCTGGGCTCCCCTGCACACCAGTGAGGGAGAGGCTGCAGTGTGATATGGGGATGGGCAAGGTGTGCATGTGTCCTTGAACTAGGCTTTGTACTCCTTCCTTTCTCTCTGTCCATTTTTCTCTATAGGGCTGGTCTGCGGCCTGGTGATGTGATTTTGGCCATTGGGGAGCAGATGGTACAAAATGCTGAAGATGTTTATGAAGCTGTTCGAACCCAATCCCAGTTGGCAGTGCAGATCCGGCGGGGACGAGAAACACTGACCTTATATGTGACCCCTGAGGTCACAGAATGAATAGATCACCAAGAGTATGAGGCTCCTGCTCTGATTTCCTCCTTGCCTTTCTGGCTGAGGTTCTGAGGGCACCGAGACAGAGGGTTAAATGAACCAGTGGGGGCAGGTCCCTCCAACCACCAGCACTGACTCCTGGGCTCTGAAGAATCACAGAAACACTTTTTATATAAAATAAAATTATACCTAGCAACATATTATAGTAAAAAATGAGGTGGGAGGGCTGGATCTTTTCCCCCACCAAAAGGCTAGAGGTAAAGCTGTATCCCCCTAAACTTAGGGGAGATACTGGAGCTGACCATCCTGACCTCCTATTAAAGAAAATGAGCTGCTGCCATCTTTTGTGGGCAGTTAGTCAGGTGCTGCTCTTTGTGGTGTGGTGGGCTCTGGTCTGTTCTGCTCGGTGCTGGGCCTGGGAGCAAAGATTCCCATGCTTGGCTACAGATACTGACAGCTGGCCTCTGAAGGAGGGTGAAAACTTCTGCTTGACAGTTCCACATCCATAGTGCATGGTCTGATGAGTGCGGTTGCTGACATGGGTTTCTTGGTAAGCTCCTGAGGTAATGGCAGCCTCAGACCCCTGCCATTAGGGGCCAGTGGTGGTTTGCAGAGGGCAGTGGCACTTAGATAATCTGGTTGCTGGTCTGGCCAGGGTAGCGTTCAAACCTCCTGTTGGCCTCTTCACTGAAGGCATCACCTGCAGAGTGGACAGGCAATTTGGGAGGCGCCCTGCACAGAGGGAGGGAGATAGATGCACTGTGGAGAAGGGTGGGTAGAAGTGGAGGGACTGAGAGCTCTACAGGAAGGTGGGAAGATGGAGAAACAAGCTATGGAAAAGAGAATGAACGTCTTTCCCTCCCATCCCCTAATCTTCCTGGGTTGCTCTTCCCATCAAATACCAATGTGGCAGTTGTGCACCCAGATTCTATGTCCATCATATTTGCAGTTACATTTCATTGCATTGTTGGTAAAGTCACTCTCTGCTACTTCAAAGTTTGGGTTGATGACAACCTGTGAGTGAGAAAAAGGCCACTTAACCCAGCGACAATCCTCGAATTCAAAGGTGTCTTTAACGCTCCCCCCACTCACCCATCTGGAAGCCCCAGACTCCAGGTACCTGGAGAATGTAGTTTCCTGGCTTCACATCCGTGATGTCAATCCACTGACAGTCAATGTCATGCCGGTAGAGATCCCAGCAACCCACAGTGATGCCTTGCTCTCCAAAGTTGGCACACTCATACCGCTTGGAGACATCTGGAGGGATTGGCATATGTCAGTGTAAGGAAAGGCTGTGCAATGGATACCATGTGGTTCACTTCAGTCCCCAACTCACCCTCCTGACACTCAGTGTCTTCGAGACAGAAACTAGCTTTGTGGCCCTCAGCCACCTTGGTGCCATTTGGGGTGAGGATATCATAGTGAGTGAAGATGTCCATGCTGTGGTAATGCCTGTGGGGAGAAGGGAACTTCTGTTTCCTTCTCTGCCCCCAGAAGGTTTGCCCCATCCCCCGTGGTCTTGCCCTTCTACTTGACTCCCTACCCTCTCACCCATGGCACTCGTGCCACACCCAGGAGTGGCGCCCAGCCTTGGGCCTGAAGTCAGCTCGTCCCAGGTTGTGGATCTGGGAGGAGAATCGGAGCAGACGCCGGTGACCATAGGGCCAGTTGGCTGAGCGGGCTGAGCTGGCCAGGCAGTTCTCTTCCGCAGCACAGTACAACATATGCAGGGGCCGGTCTTCGATGTAGGCGGTCTCCTGCACCAGTGCTGAGTGCAGCAAC
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Task1_train_3790
|
An alteration has been detected in SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Mitochondrial DNA depletion syndrome 9
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AGAATTGTCTGAGTGTCCAGTATAGAAGGCCCTGCTCAGAAAGTTTTATCTTTCATGTTTTCTCAAAAAATTCACCTTTGAAAAAATAAAAATAACTTCTGAAACAAGCCTCTGATATTAAGAGCAAAGAGCTATGTTTTTCCAAACCCAAACTTACTGAATTATGTTGCTTCAAAAATTCTGCAGCATTCTCTTCTGCATTACCACCAATTTCACCAATCAATATGATGCCTTCTGTGGCAGAATCGTTCAAAAAGATTTCGAGGCAGTCAATAAAATCTGTTCCATTAAAAGGATCACCTCCAATGCCTGAAAAAGTTGAAAAATATCAATAGCTGGAAATTTAAGGGTGAACCATGGAATTTAGGTCAATAAATGTTTTTAACTAGTTTGTCATTTTTCTTACCCTTCTCTCTTATATTTTTAAATGTATCATTGCTCTTGCATTTAATATTTAAAAAATCACAAAATGCTACATTTATTTCTGTTGGTAATATTATATAAATGCTAAATGGTGGTTGGTTCCTGATATTCTAGGAATATTCTAGGGCTGTAACGAAGACAACCCTCTTTTTGTTTTAGCTCCTTTATCAAGCCTCTTCTGTCCCACAAAATTATTCCCAGATAACTCCTTAGAAATGAACATTTTAAGAAAATGTGTATCTGTGTTGCATGCTGATGTTACACCAGAGGAAAGAATAAACATTTAACAAATTTCTTTGAGTAAAGAAACTATTTGATGAAGTATGCTGCAGATAAATCACCCACAAGTTTTAAGACACAAGTGCCAGTGAGTGACAGTGAGTACCCTGACTGCTCGTGTTCTGGATCCAGAGTGGATGATGACAGAGCATGCATATCAGAGCCATACTACACACCACATTTAAGAACAAATTCATGGACAGGGTTAAAGTAAATGTTCCCTACAGACAGGCTGCCGTTTTTTATTTTTAAATTACAAACTTACTGAGGGCAGGATTGATTTCTTTCTTTTCACTGCATCTCTGAAAAATGGAGTGGAAGAAGAGAACCGGCATTTATTAAGTGCCAACCGTGTGTCAAGTCCTATGCTTTGGCACACGTTAGATCTGTCATTTCCTAATTTTCTCAACTTCTCTGTGAGATAGGCATTATTATCCTCCACTTACAAATTCAAAACTGAAGCTGGAAAAGAAGGAATCGGTAAGCCTGTTTCAAACCTTTTCTTATTCTCTGTCACACTAAAAAGTATCTTCCACTTATATTGTGCTTTGCATGTACAAATGCTCAATTAATGTTTTCAATATTTAATTTATGAATTTGAATCTTAATAAAAACACTCCAGAGCTATATGTTACTTTTTCGTAAAGATAATTCTAAAACATTAACAGGTATTCTAAGAACTTGAAAGAATATTTATTAATATGAAAAGGAGGAATTTGCCTTGGCTTTTGGCAACAAATAATGAAATTATTTTAAAATGTAAAAATTTGTAATTTTTACTTTTTCAAATGGGAGGCAGTATAGTGTGATAAAAAGAGAGGTTCTGAGGAAATGAACCTTCCTCAACCTTGACTTTCTCACCAATAAGGCTCTAACAGTACAATTTTCCAGCTCAGAGGCACCTGAGAGGCTTCCCTCAAGAATGAGACACTGAATGGCAAAGAATTCAGTAACTATAAAGCACTGATGAACATAATGGCAATGATAACAAAAGTCCTAATATAAGGAACCATTTCTTCAGAGCAATCAAACCAAGTGATGTTTTCAGGCACCAAGGTGCTTCGGGAGCCACGTGTTCCAAGATGTTAGTTCTTCAACCTAGAAATGAAATCTTGGACCATGAATCTTGAAACAACTACAGAATAACTTTACACTTAAGCAAATTAAATTTGAGATCGTAACATCCTTTTCATAAGAGTATCAAAATCTTTTGCAAATAATAAAATCAATAATTATTATTATACTCATCCAATGAAGACACCACACTCCAATAAAATGATTTTAGCAAAAGTCCCTCACCAACGCACAAAGACTGCCCCAATCCAACTTGCGTTGTTTGGTGAACTGCTTCATAAGTCAGGGTGCCAGATCTGGACACAATGCCTTAACGAAAGAGAATTCAAAAATATTAGATTGTGTTTCTATGTTAGACTAAAACATGGTAAACTAAATTACCAAACACTTCGAGTGACTAACATAGGTATAAAATTCATTCCATGATTTGCCATCAAAATCAATAGTATCTTCAAACGATGAAATGAAAAGGAAAGGCTTAAATTCAAGCAGGGGGGTTTTTTAATTTAGACAAAGGAGAAAGTATATTATTAGTTAAGGTTATTTTATGACTATAAAAACAATGCAAGAAAGACTTAAATTACCTCTTCTGAGAATCTTTATGAAGAAGCTAGTATCAGTATAAATTTGGTAGGTACTAATCATACCTACAGTGGCAGAATGTAATAGATTAGACTTATACTACCTTATGTAGTCTGGGTATTTGTCCCCTCCAAATCTCAGGTTGAAATGTGATGCCCAGTGTTGGAGGTGGGGCCCGGTGGGAGGTGTTTGGGTCATGGGGATAGATCCTTCATGAATGGCTTAGTGACCTCTCCATGGTAATGAGTGAGTTCTCACTCTGTTCCTTTACATGAGAGCTGGTTCTTGAAAAGATCCTGGCCTCTCTCATTCCCTCTCTCACCATGTGACACGTCTACTCCCCCTTCACCTTCTGCCATGAGTAAAAGATTCCTGAGGCCTCACCAGAAGCTGAACAGATGCTAGCACCATGCATGTATAGCCTGCAGAATCATAAGCCAAACAAATCTCTTTTACTTATAAATCATCCAGGCTCAGATATTCCTTTGTAGCAATATAAAACAGAATAATACAGTACCCAAACTATTAAACCATCAAAACTAGCATTAGTCACATTTTAAAATACTACCTATCTTCTCCACAACTATTTTCCCAATGATTTTCAACCAATATATAGGCTTTAAAATCAATATAAAGAAAACTGGGGAATAAGGTCAAGATCCCTCTGGAATCAAGTCTCCCACCTAATTTCCTTTATAAATGGACCTGTGTGAAAGCACTTAATTTCACATCTGGATTAGGTGTGCGCCGAGGGAGGAGAGCCAGTGGGGGCCAGGGAGGAGTGACAGTTAGATGTCTTCTCTTGTAGTTTACTATGCTTGGCTGAGCTTCCAGAAAGGTAATTTATTCAAAGCCACAATCTATGTAATACTTTAGACAAACAAAAAAATTAATCCAGGGTGTCCATGGTTTACTTTCCTTAAACTCCTGCCTTGGAGCAACTCTGAAGAACTCAGAAGACCCTTTTCTAACAATATGATCACCCTACCAGGGCAGGTAGAATTCTTGTCAACCTGAGACAAAAACCATAACTATAAGTTACCTCAACTTCCGTGCTACATGTTTACACTCTTAAACAAAGTGCTATGTCACCATTATTGTATACTAATGCGTACTAAGTGTGTGACCTATGCATAAACACATCTTCTCACTATGAATTTGGGCACACAATAACTTCAGGTTCTACATACCAAATTCAAAGTCAAATTCAAAGAATGGTGTGTACGTAACTTAGTCATTGCTAAGCAGACCCTACAGAACACTGTCAGATTGCTCTTTTAGATGCATTTCACTAGACAGTGACAACTAAATCCTCGACGATGCCTCACTTCACGTGGAACTCTGCTCTAACTCGCCAGCCCAGCAGAGTCCCAGCTTCCCTCTCCAGACTTGTTTCTTACTATTTCCCTACCTAGTGAAACTGGGTTATTCCTCATTGATATTTCATGCTCTCCTATCTTTTCATATTTGTTCTGCTTAAGATGGAGTGTTTCACCTCCACCATCTGACAAAACTTCTAATCATCCTTCAAGGTCCACATTAAATGCTACTTTCTCTTTGAGGTCTTTCCTGATCACCCCCAAAGAGAAGTGAGATATAATTTCCTTCTCTAAATCTCCTCAATGCTTTCATATTTCCTACTGCCCTCATTACTAAGAAATAAGCAGAAGTTATATCTTCCCTACCACTGTGAGAGTATTTCTGGGGTAGAAACAACGTCATTCATTGAATGGTTCAC
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AGAATTGTCTGAGTGTCCAGTATAGAAGGCCCTGCTCAGAAAGTTTTATCTTTCATGTTTTCTCAAAAAATTCACCTTTGAAAAAATAAAAATAACTTCTGAAACAAGCCTCTGATATTAAGAGCAAAGAGCTATGTTTTTCCAAACCCAAACTTACTGAATTATGTTGCTTCAAAAATTCTGCAGCATTCTCTTCTGCATTACCACCAATTTCACCAATCAATATGATGCCTTCTGTGGCAGAATCGTTCAAAAAGATTTCGAGGCAGTCAATAAAATCTGTTCCATTAAAAGGATCACCTCCAATGCCTGAAAAAGTTGAAAAATATCAATAGCTGGAAATTTAAGGGTGAACCATGGAATTTAGGTCAATAAATGTTTTTAACTAGTTTGTCATTTTTCTTACCCTTCTCTCTTATATTTTTAAATGTATCATTGCTCTTGCATTTAATATTTAAAAAATCACAAAATGCTACATTTATTTCTGTTGGTAATATTATATAAATGCTAAATGGTGGTTGGTTCCTGATATTCTAGGAATATTCTAGGGCTGTAACGAAGACAACCCTCTTTTTGTTTTAGCTCCTTTATCAAGCCTCTTCTGTCCCACAAAATTATTCCCAGATAACTCCTTAGAAATGAACATTTTAAGAAAATGTGTATCTGTGTTGCATGCTGATGTTACACCAGAGGAAAGAATAAACATTTAACAAATTTCTTTGAGTAAAGAAACTATTTGATGAAGTATGCTGCAGATAAATCACCCACAAGTTTTAAGACACAAGTGCCAGTGAGTGACAGTGAGTACCCTGACTGCTCGTGTTCTGGATCCAGAGTGGATGATGACAGAGCATGCATATCAGAGCCATACTACACACCACATTTAAGAACAAATTCATGGACAGGGTTAAAGTAAATGTTCCCTACAGACAGGCTGCCGTTTTTTATTTTTAAATTACAAACTTACTGAGGGCAGGATTGATTTCTTTCTTTTCACTGCATCTCTGAAAAATGGAGTGGAAGAAGAGAACCGGCATTTATTAAGTGCCAACCGTGTGTCAAGTCCTATGCTTTGGCACACGTTAGATCTGTCATTTCCTAATTTTCTCAACTTCTCTGTGAGATAGGCATTATTATCCTCCACTTACAAATTCAAAACTGAAGCTGGAAAAGAAGGAATCGGTAAGCCTGTTTCAAACCTTTTCTTATTCTCTGTCACACTAAAAAGTATCTTCCACTTATATTGTGCTTTGCATGTACAAATGCTCAATTAATGTTTTCAATATTTAATTTATGAATTTGAATCTTAATAAAAACACTCCAGAGCTATATGTTACTTTTTCGTAAAGATAATTCTAAAACATTAACAGGTATTCTAAGAACTTGAAAGAATATTTATTAATATGAAAAGGAGGAATTTGCCTTGGCTTTTGGCAACAAATAATGAAATTATTTTAAAATGTAAAAATTTGTAATTTTTACTTTTTCAAATGGGAGGCAGTATAGTGTGATAAAAAGAGAGGTTCTGAGGAAATGAACCTTCCTCAACCTTGACTTTCTCACCAATAAGGCTCTAACAGTACAATTTTCCAGCTCAGAGGCACCTGAGAGGCTTCCCTCAAGAATGAGACACTGAATGGCAAAGAATTCAGTAACTATAAAGCACTGATGAACATAATGGCAATGATAACAAAAGTCCTAATATAAGGAACCATTTCTTCAGAGCAATCAAACCAAGTGATGTTTTCAGGCACCAAGGTGCTTCGGGAGCCACGTGTTCCAAGATGTTAGTTCTTCAACCTAGAAATGAAATCTTGGACCATGAATCTTGAAACAACTACAGAATAACTTTACACTTAAGCAAATTAAATTTGAGATCGTAACATCCTTTTCATAAGAGTATCAAAATCTTTTGCAAATAATAAAATCAATAATTATTATTATACTCATCCAATGAAGACACCACACTCCAATAAAATGATTTTAGCAAAAGTCCCTCACCAACGCACAAAGACTGCCCCAATCCAACTTGCGTTGTTTGGTGAACTTCTTCATAAGTCAGGGTGCCAGATCTGGACACAATGCCTTAACGAAAGAGAATTCAAAAATATTAGATTGTGTTTCTATGTTAGACTAAAACATGGTAAACTAAATTACCAAACACTTCGAGTGACTAACATAGGTATAAAATTCATTCCATGATTTGCCATCAAAATCAATAGTATCTTCAAACGATGAAATGAAAAGGAAAGGCTTAAATTCAAGCAGGGGGGTTTTTTAATTTAGACAAAGGAGAAAGTATATTATTAGTTAAGGTTATTTTATGACTATAAAAACAATGCAAGAAAGACTTAAATTACCTCTTCTGAGAATCTTTATGAAGAAGCTAGTATCAGTATAAATTTGGTAGGTACTAATCATACCTACAGTGGCAGAATGTAATAGATTAGACTTATACTACCTTATGTAGTCTGGGTATTTGTCCCCTCCAAATCTCAGGTTGAAATGTGATGCCCAGTGTTGGAGGTGGGGCCCGGTGGGAGGTGTTTGGGTCATGGGGATAGATCCTTCATGAATGGCTTAGTGACCTCTCCATGGTAATGAGTGAGTTCTCACTCTGTTCCTTTACATGAGAGCTGGTTCTTGAAAAGATCCTGGCCTCTCTCATTCCCTCTCTCACCATGTGACACGTCTACTCCCCCTTCACCTTCTGCCATGAGTAAAAGATTCCTGAGGCCTCACCAGAAGCTGAACAGATGCTAGCACCATGCATGTATAGCCTGCAGAATCATAAGCCAAACAAATCTCTTTTACTTATAAATCATCCAGGCTCAGATATTCCTTTGTAGCAATATAAAACAGAATAATACAGTACCCAAACTATTAAACCATCAAAACTAGCATTAGTCACATTTTAAAATACTACCTATCTTCTCCACAACTATTTTCCCAATGATTTTCAACCAATATATAGGCTTTAAAATCAATATAAAGAAAACTGGGGAATAAGGTCAAGATCCCTCTGGAATCAAGTCTCCCACCTAATTTCCTTTATAAATGGACCTGTGTGAAAGCACTTAATTTCACATCTGGATTAGGTGTGCGCCGAGGGAGGAGAGCCAGTGGGGGCCAGGGAGGAGTGACAGTTAGATGTCTTCTCTTGTAGTTTACTATGCTTGGCTGAGCTTCCAGAAAGGTAATTTATTCAAAGCCACAATCTATGTAATACTTTAGACAAACAAAAAAATTAATCCAGGGTGTCCATGGTTTACTTTCCTTAAACTCCTGCCTTGGAGCAACTCTGAAGAACTCAGAAGACCCTTTTCTAACAATATGATCACCCTACCAGGGCAGGTAGAATTCTTGTCAACCTGAGACAAAAACCATAACTATAAGTTACCTCAACTTCCGTGCTACATGTTTACACTCTTAAACAAAGTGCTATGTCACCATTATTGTATACTAATGCGTACTAAGTGTGTGACCTATGCATAAACACATCTTCTCACTATGAATTTGGGCACACAATAACTTCAGGTTCTACATACCAAATTCAAAGTCAAATTCAAAGAATGGTGTGTACGTAACTTAGTCATTGCTAAGCAGACCCTACAGAACACTGTCAGATTGCTCTTTTAGATGCATTTCACTAGACAGTGACAACTAAATCCTCGACGATGCCTCACTTCACGTGGAACTCTGCTCTAACTCGCCAGCCCAGCAGAGTCCCAGCTTCCCTCTCCAGACTTGTTTCTTACTATTTCCCTACCTAGTGAAACTGGGTTATTCCTCATTGATATTTCATGCTCTCCTATCTTTTCATATTTGTTCTGCTTAAGATGGAGTGTTTCACCTCCACCATCTGACAAAACTTCTAATCATCCTTCAAGGTCCACATTAAATGCTACTTTCTCTTTGAGGTCTTTCCTGATCACCCCCAAAGAGAAGTGAGATATAATTTCCTTCTCTAAATCTCCTCAATGCTTTCATATTTCCTACTGCCCTCATTACTAAGAAATAAGCAGAAGTTATATCTTCCCTACCACTGTGAGAGTATTTCTGGGGTAGAAACAACGTCATTCATTGAATGGTTCAC
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Task1_train_3791
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This variant affects the gene SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Mitochondrial DNA depletion syndrome 9
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ATTAAAAGCAGTCTCCCAGACGACTGTCTCATCAATGGGTTATGACCATTCACAAAGGCAAGGTCTAAAGGACTTCCCTGAACTTCTCTTGATTTTCATTTTTTAGGTTTATGCTCACCTTAGAAAGCAGAGCAGTGATCAGAAAGGCAACTCAGCACAGAGCATTCCTTCCATGCTCACCTTAAGACCACAGCCTTCAAAACAGACCCAAGAATATAAGAAATATTCAAATATGTACAAGAGCATCAGTGATACATGGATCTGGCCCCACTGGAACTCAGATGGCCTATGGAGCTCCCTGAAATCTCTCTTGTAAATGAAATTATCAAGTACTGCCACTGGCAGCAGGGCTGACAGCTCCAAGAGACATTGGTAATAAAGAAAAATCATGATCTTTAACCCAATTCTGTAAACTGCACAGCCGACACCCACTGTGACAATTAATTACCCTTATTAGTAGCCATGGTTTATAGATAGAGAAAAATATGGTCAATCATCTTTCATGACTGAAAAACAGTATAGTTTAGAGAAATTTTGGTGTAAAGCCTAAACACAAGCCTAATGTGGCTAACTTTGAAATGTTACTTTGGCTATTTCCTCAAGGAACTAACCAAGTAGCAGGGCAATTTTCCTGACAGGCCATCTGAGTTCCCTTTCTGATCACTGCCCTGCTTTCTAAGGTGCCTACAAACCTAAAACATTTTGAGAAAGTTTGTGATATCTAAAAGAACAAGGTAATTATTGAGCAGGTATGTGAATGGCCTTATAAGCACATGAAAAGGTGCTCTACATTATTAGTCATCAGGGACACTCAAAACCACAAGAGATACCATTTTACTCTCAGTAGAATGGCTACATTTAAAAAGGCTAATAGCCGGGCATGGTAGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCCAGCAGATCACCTGAGGTCGGGAGTTCGAGGCCAGCCTGACCAACATGGAGAAACCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTGGGGGTAAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCGACAGAGCAAAACTCTGTCTCAAAAAAATGAAGACTAACAATACCAAATCTTTGTGAAGATATGGAGCAAGTGGAACTCTCCTACATTAATGGTGAAAATATAAAATGATATAGCCACTTTGCAGAACTATTTGGCAGTTTCTTATAAAGTTAAATATACTTGACTTATGTTCATATGAACATGACTTAGCAATTCCATTCCTACACATTTTGCCCAAGAGAAACGAAAATGTTTCCACAAAAAGACCTGTACACAAATGTTGACCTAAGCCTTGTTTGTAAGGCTCAAACATGAAAACAACCCAAATGTTCATTAATGGGAGAATGAATAAACAAACTGTGGTATAATTATACAACAGAATACTCCTTAGCAATAACTAAGTTATAACAGTTAATGAAATTAACTACTGATATATGCAAACACATGGAGTAATCCACAGAGTGCTGAGCAGAAAAAAATCTTTAAACTCCCACCACCAAAAAAATCTTCACTGATTCTGCAGAATTGTAACGGCTTCTCAAATAAACTCATTATATTCAAGATACAGAATTGATAGACTACAAAACTTCCCTGGTAAATTCTACTCAAGTCAAATTAATTAAACTTGATTTGCAAAGTCAAAAATTCTTTGTGAGTTTTGAGGGTTTAAGGCAAATAACGTTTTAATCTATAAGAATGTAACAAACAAACTCACCAATCCTTCCTTTTTTGTGAATATGGCCAGGCATGATGCCAATTTTACATTCTCCAGGCTGAAAGTAATCATAGTTTTCAGAAATGTTAAAAAAAAAAGTCACTCACAGGTCATACACACAAATACACTCGCATTCACTCAAAGCTGTTTAGCCTTGTGAGAGGCTTAATCTGAGTTTCTTTTTGTTTTTTTGCACTCACATTGATGACTCCAGGGCAGTTGGGCCCAATTAGCCTTGTCTTTTCCTGGCGCAGCAGTTTGTGCTTGACTCGTACCATGTCCTGCTGGGGAATTCCTTCAGTGATACACACAACCAAGGGAATTTCTGCCTCAATAGCTTCATTAATGGCAGCAGCAGCAAAAGGCGGAGGAACATAAATGACAGAAGCCGTTGCTCCTGTCTGTTCTTTGGCCTGAAACATTAACGACGAAGCACCTTATTATTTGTTAAATCATAAACATTGTAAAATAAATTCAATACCATCATTTTAATAATGTCTTGGGGTAAGAAAAGGACACTACCCAGAGACATAGCATTCTTCCCATTCTCAAATTTGCTACACTGTCAGAGTAGAACAGAATCAAGCATAGCCCTTTCTCAGCCCATTTGAATGCCACTGTGAATTGAAAGCTTCTGTGACATCTCACTCTCTATGGCATGTCAGTAAATCTGAAAGCAGCCTGACAGTGAACAGAGTCAAAGAATGCCAACATATCATCCACAAATGATGCCGGGGGTTAAAAATAATTTTTTAAAACTCTGTTCAAGATGATAACAGAGGGGGAGACACAAAAAACATTAAAACTAGTATGGAATCAAAAAAAGTCACATCATGGGGATGTAGGTACTTTAATGAAAAGTACCTACATTACATAGTTTTCTACCTCTAAAGTCTACAAATACTGCCAGAAGCTATACTGTGACAACAGCAAATATTGTGCTGGGACGTCATATGGATGAAAGGTACCAACCCTACTCATTCAAAAAGCCCTTTGTAAGAGCAGAACGGGTGAAAAATAAACAATATCTGTCAAAAAACTTATAGAATATTCCAAATGTCACAACTATTTGTGTCACTATAAATTATAAATGGATTGCTTAGCAAGAAGAACTTTCTTTAAAAAAAAAAAAAAAGCAAAAAGAGGCTCATGACAAAAGAAAAGTCAACCTAGAGGAATTGTAAAAAAACATCTCCTCTCTATATTTTGAGGTTATAAAATCAGCCATAATAGAATTTAAGGCAGGAAGGACTTTAAATTTGTGCTTTAAAAAATGTAATGCTTTAAAACATACCTTAAAAATATGCAAAAGAAGAGAGGAAGAATACATTTAAGGCTGATCAACACATCATCCCAAAGAACTAAGTTTATTTCCTAGATTTTTAAAATTAAATACCCAAGAATTTACACTATAGTTTCTTTTAAATACTATTAGTTTTGTATATATTCATATAAGAGTCAAAAGAGAATGAAAGACTACACACTGAGCTTAAATTAGCTCCCTACAGAGGCAAAATCTGAGATTTCGAAAACACTGTAAAATTTAACTTTACTTACTTTTTGTATCGTCTGAATTTTTACAAAAAGTACCTATCAGTTTTGTAACAAATAATAAAATTTAATTTAAAAATCATTTTAAAAGGTAACTATTAAGAAATCAGCAGTTTGCGGAGAATCTAGGACACTGTGATTTGTAAATCTGACTCTACAATTTAGTTTCTTCACACGGGACCACTCTACTCCAAGCCATCCTAAGCCTGCCACTTAATCAGTTGTGAGACCATGGGCAAGATCTCTAACCTCTTTGCACTAGTAACATCGTTATCTTTAAAATGAGGATGATAACAGCACCTACCTCCGAGGGTTGTAGTGAGGCCTGAACAGGGCAATTTGAATGAAACACCTAGCACAGTGCCTACTGCATAGTCCCCACTCAGGAAGAATTAAGGGGTGGTTGCTGACATTTGTACTACTAACATACTGGAAGAAGAAAGGTAAGGAAAGCGTAAAAAGCCCAACAGAAGCCTGGCCACAGTACTTCCTCCCTTAATAGCTGATTCATACCTAGAAACAAAAATAACACACTGGTTTTGATGGCAATTCAAATTTCTCTAGGTTACTGAATTTTCAAATAGCAAGTGACTCTACCAAAAAAACATAATTAAGATCTCTACCCAAAGAATGCTCGCTCTTCCCTTGCTTTTCTTGTCTTGCCAAACTCAGGTACCACTAATTACCTCCTTCACAGTATTAAAGACAGGTAAGCCCAG
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ATTAAAAGCAGTCTCCCAGACGACTGTCTCATCAATGGGTTATGACCATTCACAAAGGCAAGGTCTAAAGGACTTCCCTGAACTTCTCTTGATTTTCATTTTTTAGGTTTATGCTCACCTTAGAAAGCAGAGCAGTGATCAGAAAGGCAACTCAGCACAGAGCATTCCTTCCATGCTCACCTTAAGACCACAGCCTTCAAAACAGACCCAAGAATATAAGAAATATTCAAATATGTACAAGAGCATCAGTGATACATGGATCTGGCCCCACTGGAACTCAGATGGCCTATGGAGCTCCCTGAAATCTCTCTTGTAAATGAAATTATCAAGTACTGCCACTGGCAGCAGGGCTGACAGCTCCAAGAGACATTGGTAATAAAGAAAAATCATGATCTTTAACCCAATTCTGTAAACTGCACAGCCGACACCCACTGTGACAATTAATTACCCTTATTAGTAGCCATGGTTTATAGATAGAGAAAAATATGGTCAATCATCTTTCATGACTGAAAAACAGTATAGTTTAGAGAAATTTTGGTGTAAAGCCTAAACACAAGCCTAATGTGGCTAACTTTGAAATGTTACTTTGGCTATTTCCTCAAGGAACTAACCAAGTAGCAGGGCAATTTTCCTGACAGGCCATCTGAGTTCCCTTTCTGATCACTGCCCTGCTTTCTAAGGTGCCTACAAACCTAAAACATTTTGAGAAAGTTTGTGATATCTAAAAGAACAAGGTAATTATTGAGCAGGTATGTGAATGGCCTTATAAGCACATGAAAAGGTGCTCTACATTATTAGTCATCAGGGACACTCAAAACCACAAGAGATACCATTTTACTCTCAGTAGAATGGCTACATTTAAAAAGGCTAATAGCCGGGCATGGTAGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCCAGCAGATCACCTGAGGTCGGGAGTTCGAGGCCAGCCTGACCAACATGGAGAAACCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTGGGGGTAAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCGACAGAGCAAAACTCTGTCTCAAAAAAATGAAGACTAACAATACCAAATCTTTGTGAAGATATGGAGCAAGTGGAACTCTCCTACATTAATGGTGAAAATATAAAATGATATAGCCACTTTGCAGAACTATTTGGCAGTTTCTTATAAAGTTAAATATACTTGACTTATGTTCATATGAACATGACTTAGCAATTCCATTCCTACACATTTTGCCCAAGAGAAACGAAAATGTTTCCACAAAAAGACCTGTACACAAATGTTGACCTAAGCCTTGTTTGTAAGGCTCAAACATGAAAACAACCCAAATGTTCATTAATGGGAGAATGAATAAACAAACTGTGGTATAATTATACAACAGAATACTCCTTAGCAATAACTAAGTTATAACAGTTAATGAAATTAACTACTGATATATGCAAACACATGGAGTAATCCACAGAGTGCTGAGCAGAAAAAAATCTTTAAACTCCCACCACCAAAAAAATCTTCACTGATTCTGCAGAATTGTAACGGCTTCTCAAATAAACTCATTATATTCAAGATACAGAATTGATAGACTACAAAACTTCCCTGGTAAATTCTACTCAAGTCAAATTAATTAAACTTGATTTGCAAAGTCAAAAATTCTTTGTGAGTTTTGAGGGTTTAAGGCAAATAACGTTTTAATCTATAAGAATGTAACAAACAAACTCACCAATCCTTCCTTTTTTGTGAATATGGCCAGGCATGATGCCAATTTTACATTCTCCAGGCTGAAAGTAATCATAGTTTTCAGAAATGTTAAAAAAAAAAGTCACTCACAGGTCATACACACAAATACACTCGCATTCACTCAAAGCTGTTTAGCCTTGTGAGAGGCTTAATCTGAGTTTCTTTTTGTTTTTTTGCACTCACATTGATGACTCCAGGGCAGTTGCGCCCAATTAGCCTTGTCTTTTCCTGGCGCAGCAGTTTGTGCTTGACTCGTACCATGTCCTGCTGGGGAATTCCTTCAGTGATACACACAACCAAGGGAATTTCTGCCTCAATAGCTTCATTAATGGCAGCAGCAGCAAAAGGCGGAGGAACATAAATGACAGAAGCCGTTGCTCCTGTCTGTTCTTTGGCCTGAAACATTAACGACGAAGCACCTTATTATTTGTTAAATCATAAACATTGTAAAATAAATTCAATACCATCATTTTAATAATGTCTTGGGGTAAGAAAAGGACACTACCCAGAGACATAGCATTCTTCCCATTCTCAAATTTGCTACACTGTCAGAGTAGAACAGAATCAAGCATAGCCCTTTCTCAGCCCATTTGAATGCCACTGTGAATTGAAAGCTTCTGTGACATCTCACTCTCTATGGCATGTCAGTAAATCTGAAAGCAGCCTGACAGTGAACAGAGTCAAAGAATGCCAACATATCATCCACAAATGATGCCGGGGGTTAAAAATAATTTTTTAAAACTCTGTTCAAGATGATAACAGAGGGGGAGACACAAAAAACATTAAAACTAGTATGGAATCAAAAAAAGTCACATCATGGGGATGTAGGTACTTTAATGAAAAGTACCTACATTACATAGTTTTCTACCTCTAAAGTCTACAAATACTGCCAGAAGCTATACTGTGACAACAGCAAATATTGTGCTGGGACGTCATATGGATGAAAGGTACCAACCCTACTCATTCAAAAAGCCCTTTGTAAGAGCAGAACGGGTGAAAAATAAACAATATCTGTCAAAAAACTTATAGAATATTCCAAATGTCACAACTATTTGTGTCACTATAAATTATAAATGGATTGCTTAGCAAGAAGAACTTTCTTTAAAAAAAAAAAAAAAGCAAAAAGAGGCTCATGACAAAAGAAAAGTCAACCTAGAGGAATTGTAAAAAAACATCTCCTCTCTATATTTTGAGGTTATAAAATCAGCCATAATAGAATTTAAGGCAGGAAGGACTTTAAATTTGTGCTTTAAAAAATGTAATGCTTTAAAACATACCTTAAAAATATGCAAAAGAAGAGAGGAAGAATACATTTAAGGCTGATCAACACATCATCCCAAAGAACTAAGTTTATTTCCTAGATTTTTAAAATTAAATACCCAAGAATTTACACTATAGTTTCTTTTAAATACTATTAGTTTTGTATATATTCATATAAGAGTCAAAAGAGAATGAAAGACTACACACTGAGCTTAAATTAGCTCCCTACAGAGGCAAAATCTGAGATTTCGAAAACACTGTAAAATTTAACTTTACTTACTTTTTGTATCGTCTGAATTTTTACAAAAAGTACCTATCAGTTTTGTAACAAATAATAAAATTTAATTTAAAAATCATTTTAAAAGGTAACTATTAAGAAATCAGCAGTTTGCGGAGAATCTAGGACACTGTGATTTGTAAATCTGACTCTACAATTTAGTTTCTTCACACGGGACCACTCTACTCCAAGCCATCCTAAGCCTGCCACTTAATCAGTTGTGAGACCATGGGCAAGATCTCTAACCTCTTTGCACTAGTAACATCGTTATCTTTAAAATGAGGATGATAACAGCACCTACCTCCGAGGGTTGTAGTGAGGCCTGAACAGGGCAATTTGAATGAAACACCTAGCACAGTGCCTACTGCATAGTCCCCACTCAGGAAGAATTAAGGGGTGGTTGCTGACATTTGTACTACTAACATACTGGAAGAAGAAAGGTAAGGAAAGCGTAAAAAGCCCAACAGAAGCCTGGCCACAGTACTTCCTCCCTTAATAGCTGATTCATACCTAGAAACAAAAATAACACACTGGTTTTGATGGCAATTCAAATTTCTCTAGGTTACTGAATTTTCAAATAGCAAGTGACTCTACCAAAAAAACATAATTAAGATCTCTACCCAAAGAATGCTCGCTCTTCCCTTGCTTTTCTTGTCTTGCCAAACTCAGGTACCACTAATTACCTCCTTCACAGTATTAAAGACAGGTAAGCCCAG
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Task1_train_3792
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Consider this mutation in SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha) on Chromosome 2. Is this a benign change or a disease-causing variant?
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Pathogenic; Mitochondrial DNA depletion syndrome 9
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ACAAAGGCAAGGTCTAAAGGACTTCCCTGAACTTCTCTTGATTTTCATTTTTTAGGTTTATGCTCACCTTAGAAAGCAGAGCAGTGATCAGAAAGGCAACTCAGCACAGAGCATTCCTTCCATGCTCACCTTAAGACCACAGCCTTCAAAACAGACCCAAGAATATAAGAAATATTCAAATATGTACAAGAGCATCAGTGATACATGGATCTGGCCCCACTGGAACTCAGATGGCCTATGGAGCTCCCTGAAATCTCTCTTGTAAATGAAATTATCAAGTACTGCCACTGGCAGCAGGGCTGACAGCTCCAAGAGACATTGGTAATAAAGAAAAATCATGATCTTTAACCCAATTCTGTAAACTGCACAGCCGACACCCACTGTGACAATTAATTACCCTTATTAGTAGCCATGGTTTATAGATAGAGAAAAATATGGTCAATCATCTTTCATGACTGAAAAACAGTATAGTTTAGAGAAATTTTGGTGTAAAGCCTAAACACAAGCCTAATGTGGCTAACTTTGAAATGTTACTTTGGCTATTTCCTCAAGGAACTAACCAAGTAGCAGGGCAATTTTCCTGACAGGCCATCTGAGTTCCCTTTCTGATCACTGCCCTGCTTTCTAAGGTGCCTACAAACCTAAAACATTTTGAGAAAGTTTGTGATATCTAAAAGAACAAGGTAATTATTGAGCAGGTATGTGAATGGCCTTATAAGCACATGAAAAGGTGCTCTACATTATTAGTCATCAGGGACACTCAAAACCACAAGAGATACCATTTTACTCTCAGTAGAATGGCTACATTTAAAAAGGCTAATAGCCGGGCATGGTAGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCCAGCAGATCACCTGAGGTCGGGAGTTCGAGGCCAGCCTGACCAACATGGAGAAACCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTGGGGGTAAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCGACAGAGCAAAACTCTGTCTCAAAAAAATGAAGACTAACAATACCAAATCTTTGTGAAGATATGGAGCAAGTGGAACTCTCCTACATTAATGGTGAAAATATAAAATGATATAGCCACTTTGCAGAACTATTTGGCAGTTTCTTATAAAGTTAAATATACTTGACTTATGTTCATATGAACATGACTTAGCAATTCCATTCCTACACATTTTGCCCAAGAGAAACGAAAATGTTTCCACAAAAAGACCTGTACACAAATGTTGACCTAAGCCTTGTTTGTAAGGCTCAAACATGAAAACAACCCAAATGTTCATTAATGGGAGAATGAATAAACAAACTGTGGTATAATTATACAACAGAATACTCCTTAGCAATAACTAAGTTATAACAGTTAATGAAATTAACTACTGATATATGCAAACACATGGAGTAATCCACAGAGTGCTGAGCAGAAAAAAATCTTTAAACTCCCACCACCAAAAAAATCTTCACTGATTCTGCAGAATTGTAACGGCTTCTCAAATAAACTCATTATATTCAAGATACAGAATTGATAGACTACAAAACTTCCCTGGTAAATTCTACTCAAGTCAAATTAATTAAACTTGATTTGCAAAGTCAAAAATTCTTTGTGAGTTTTGAGGGTTTAAGGCAAATAACGTTTTAATCTATAAGAATGTAACAAACAAACTCACCAATCCTTCCTTTTTTGTGAATATGGCCAGGCATGATGCCAATTTTACATTCTCCAGGCTGAAAGTAATCATAGTTTTCAGAAATGTTAAAAAAAAAAGTCACTCACAGGTCATACACACAAATACACTCGCATTCACTCAAAGCTGTTTAGCCTTGTGAGAGGCTTAATCTGAGTTTCTTTTTGTTTTTTTGCACTCACATTGATGACTCCAGGGCAGTTGGGCCCAATTAGCCTTGTCTTTTCCTGGCGCAGCAGTTTGTGCTTGACTCGTACCATGTCCTGCTGGGGAATTCCTTCAGTGATACACACAACCAAGGGAATTTCTGCCTCAATAGCTTCATTAATGGCAGCAGCAGCAAAAGGCGGAGGAACATAAATGACAGAAGCCGTTGCTCCTGTCTGTTCTTTGGCCTGAAACATTAACGACGAAGCACCTTATTATTTGTTAAATCATAAACATTGTAAAATAAATTCAATACCATCATTTTAATAATGTCTTGGGGTAAGAAAAGGACACTACCCAGAGACATAGCATTCTTCCCATTCTCAAATTTGCTACACTGTCAGAGTAGAACAGAATCAAGCATAGCCCTTTCTCAGCCCATTTGAATGCCACTGTGAATTGAAAGCTTCTGTGACATCTCACTCTCTATGGCATGTCAGTAAATCTGAAAGCAGCCTGACAGTGAACAGAGTCAAAGAATGCCAACATATCATCCACAAATGATGCCGGGGGTTAAAAATAATTTTTTAAAACTCTGTTCAAGATGATAACAGAGGGGGAGACACAAAAAACATTAAAACTAGTATGGAATCAAAAAAAGTCACATCATGGGGATGTAGGTACTTTAATGAAAAGTACCTACATTACATAGTTTTCTACCTCTAAAGTCTACAAATACTGCCAGAAGCTATACTGTGACAACAGCAAATATTGTGCTGGGACGTCATATGGATGAAAGGTACCAACCCTACTCATTCAAAAAGCCCTTTGTAAGAGCAGAACGGGTGAAAAATAAACAATATCTGTCAAAAAACTTATAGAATATTCCAAATGTCACAACTATTTGTGTCACTATAAATTATAAATGGATTGCTTAGCAAGAAGAACTTTCTTTAAAAAAAAAAAAAAAGCAAAAAGAGGCTCATGACAAAAGAAAAGTCAACCTAGAGGAATTGTAAAAAAACATCTCCTCTCTATATTTTGAGGTTATAAAATCAGCCATAATAGAATTTAAGGCAGGAAGGACTTTAAATTTGTGCTTTAAAAAATGTAATGCTTTAAAACATACCTTAAAAATATGCAAAAGAAGAGAGGAAGAATACATTTAAGGCTGATCAACACATCATCCCAAAGAACTAAGTTTATTTCCTAGATTTTTAAAATTAAATACCCAAGAATTTACACTATAGTTTCTTTTAAATACTATTAGTTTTGTATATATTCATATAAGAGTCAAAAGAGAATGAAAGACTACACACTGAGCTTAAATTAGCTCCCTACAGAGGCAAAATCTGAGATTTCGAAAACACTGTAAAATTTAACTTTACTTACTTTTTGTATCGTCTGAATTTTTACAAAAAGTACCTATCAGTTTTGTAACAAATAATAAAATTTAATTTAAAAATCATTTTAAAAGGTAACTATTAAGAAATCAGCAGTTTGCGGAGAATCTAGGACACTGTGATTTGTAAATCTGACTCTACAATTTAGTTTCTTCACACGGGACCACTCTACTCCAAGCCATCCTAAGCCTGCCACTTAATCAGTTGTGAGACCATGGGCAAGATCTCTAACCTCTTTGCACTAGTAACATCGTTATCTTTAAAATGAGGATGATAACAGCACCTACCTCCGAGGGTTGTAGTGAGGCCTGAACAGGGCAATTTGAATGAAACACCTAGCACAGTGCCTACTGCATAGTCCCCACTCAGGAAGAATTAAGGGGTGGTTGCTGACATTTGTACTACTAACATACTGGAAGAAGAAAGGTAAGGAAAGCGTAAAAAGCCCAACAGAAGCCTGGCCACAGTACTTCCTCCCTTAATAGCTGATTCATACCTAGAAACAAAAATAACACACTGGTTTTGATGGCAATTCAAATTTCTCTAGGTTACTGAATTTTCAAATAGCAAGTGACTCTACCAAAAAAACATAATTAAGATCTCTACCCAAAGAATGCTCGCTCTTCCCTTGCTTTTCTTGTCTTGCCAAACTCAGGTACCACTAATTACCTCCTTCACAGTATTAAAGACAGGTAAGCCCAGATGTGTCTGGCCTCCTTTCCCTGGAGTGGTTCCTCCAACGAGTTTGGTGCC
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ACAAAGGCAAGGTCTAAAGGACTTCCCTGAACTTCTCTTGATTTTCATTTTTTAGGTTTATGCTCACCTTAGAAAGCAGAGCAGTGATCAGAAAGGCAACTCAGCACAGAGCATTCCTTCCATGCTCACCTTAAGACCACAGCCTTCAAAACAGACCCAAGAATATAAGAAATATTCAAATATGTACAAGAGCATCAGTGATACATGGATCTGGCCCCACTGGAACTCAGATGGCCTATGGAGCTCCCTGAAATCTCTCTTGTAAATGAAATTATCAAGTACTGCCACTGGCAGCAGGGCTGACAGCTCCAAGAGACATTGGTAATAAAGAAAAATCATGATCTTTAACCCAATTCTGTAAACTGCACAGCCGACACCCACTGTGACAATTAATTACCCTTATTAGTAGCCATGGTTTATAGATAGAGAAAAATATGGTCAATCATCTTTCATGACTGAAAAACAGTATAGTTTAGAGAAATTTTGGTGTAAAGCCTAAACACAAGCCTAATGTGGCTAACTTTGAAATGTTACTTTGGCTATTTCCTCAAGGAACTAACCAAGTAGCAGGGCAATTTTCCTGACAGGCCATCTGAGTTCCCTTTCTGATCACTGCCCTGCTTTCTAAGGTGCCTACAAACCTAAAACATTTTGAGAAAGTTTGTGATATCTAAAAGAACAAGGTAATTATTGAGCAGGTATGTGAATGGCCTTATAAGCACATGAAAAGGTGCTCTACATTATTAGTCATCAGGGACACTCAAAACCACAAGAGATACCATTTTACTCTCAGTAGAATGGCTACATTTAAAAAGGCTAATAGCCGGGCATGGTAGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCCAGCAGATCACCTGAGGTCGGGAGTTCGAGGCCAGCCTGACCAACATGGAGAAACCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTGGGGGTAAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCGACAGAGCAAAACTCTGTCTCAAAAAAATGAAGACTAACAATACCAAATCTTTGTGAAGATATGGAGCAAGTGGAACTCTCCTACATTAATGGTGAAAATATAAAATGATATAGCCACTTTGCAGAACTATTTGGCAGTTTCTTATAAAGTTAAATATACTTGACTTATGTTCATATGAACATGACTTAGCAATTCCATTCCTACACATTTTGCCCAAGAGAAACGAAAATGTTTCCACAAAAAGACCTGTACACAAATGTTGACCTAAGCCTTGTTTGTAAGGCTCAAACATGAAAACAACCCAAATGTTCATTAATGGGAGAATGAATAAACAAACTGTGGTATAATTATACAACAGAATACTCCTTAGCAATAACTAAGTTATAACAGTTAATGAAATTAACTACTGATATATGCAAACACATGGAGTAATCCACAGAGTGCTGAGCAGAAAAAAATCTTTAAACTCCCACCACCAAAAAAATCTTCACTGATTCTGCAGAATTGTAACGGCTTCTCAAATAAACTCATTATATTCAAGATACAGAATTGATAGACTACAAAACTTCCCTGGTAAATTCTACTCAAGTCAAATTAATTAAACTTGATTTGCAAAGTCAAAAATTCTTTGTGAGTTTTGAGGGTTTAAGGCAAATAACGTTTTAATCTATAAGAATGTAACAAACAAACTCACCAATCCTTCCTTTTTTGTGAATATGGCCAGGCATGATGCCAATTTTACATTCTCCAGGCTGAAAGTAATCATAGTTTTCAGAAATGTTAAAAAAAAAAGTCACTCACAGGTCATACACACAAATACACTCGCATTCACTCAAAGCTGTTTAGCCTTGTGAGAGGCTTAATCTGAGTTTCTTTTTGTTTTTTTGCACTCACATTGATGACTCCAGGGCAGTTGGGCCCAATTAGCCTTGTCTTTTCCTGGCGCAGCAGTTTGTGCTTGACTCGTTCCATGTCCTGCTGGGGAATTCCTTCAGTGATACACACAACCAAGGGAATTTCTGCCTCAATAGCTTCATTAATGGCAGCAGCAGCAAAAGGCGGAGGAACATAAATGACAGAAGCCGTTGCTCCTGTCTGTTCTTTGGCCTGAAACATTAACGACGAAGCACCTTATTATTTGTTAAATCATAAACATTGTAAAATAAATTCAATACCATCATTTTAATAATGTCTTGGGGTAAGAAAAGGACACTACCCAGAGACATAGCATTCTTCCCATTCTCAAATTTGCTACACTGTCAGAGTAGAACAGAATCAAGCATAGCCCTTTCTCAGCCCATTTGAATGCCACTGTGAATTGAAAGCTTCTGTGACATCTCACTCTCTATGGCATGTCAGTAAATCTGAAAGCAGCCTGACAGTGAACAGAGTCAAAGAATGCCAACATATCATCCACAAATGATGCCGGGGGTTAAAAATAATTTTTTAAAACTCTGTTCAAGATGATAACAGAGGGGGAGACACAAAAAACATTAAAACTAGTATGGAATCAAAAAAAGTCACATCATGGGGATGTAGGTACTTTAATGAAAAGTACCTACATTACATAGTTTTCTACCTCTAAAGTCTACAAATACTGCCAGAAGCTATACTGTGACAACAGCAAATATTGTGCTGGGACGTCATATGGATGAAAGGTACCAACCCTACTCATTCAAAAAGCCCTTTGTAAGAGCAGAACGGGTGAAAAATAAACAATATCTGTCAAAAAACTTATAGAATATTCCAAATGTCACAACTATTTGTGTCACTATAAATTATAAATGGATTGCTTAGCAAGAAGAACTTTCTTTAAAAAAAAAAAAAAAGCAAAAAGAGGCTCATGACAAAAGAAAAGTCAACCTAGAGGAATTGTAAAAAAACATCTCCTCTCTATATTTTGAGGTTATAAAATCAGCCATAATAGAATTTAAGGCAGGAAGGACTTTAAATTTGTGCTTTAAAAAATGTAATGCTTTAAAACATACCTTAAAAATATGCAAAAGAAGAGAGGAAGAATACATTTAAGGCTGATCAACACATCATCCCAAAGAACTAAGTTTATTTCCTAGATTTTTAAAATTAAATACCCAAGAATTTACACTATAGTTTCTTTTAAATACTATTAGTTTTGTATATATTCATATAAGAGTCAAAAGAGAATGAAAGACTACACACTGAGCTTAAATTAGCTCCCTACAGAGGCAAAATCTGAGATTTCGAAAACACTGTAAAATTTAACTTTACTTACTTTTTGTATCGTCTGAATTTTTACAAAAAGTACCTATCAGTTTTGTAACAAATAATAAAATTTAATTTAAAAATCATTTTAAAAGGTAACTATTAAGAAATCAGCAGTTTGCGGAGAATCTAGGACACTGTGATTTGTAAATCTGACTCTACAATTTAGTTTCTTCACACGGGACCACTCTACTCCAAGCCATCCTAAGCCTGCCACTTAATCAGTTGTGAGACCATGGGCAAGATCTCTAACCTCTTTGCACTAGTAACATCGTTATCTTTAAAATGAGGATGATAACAGCACCTACCTCCGAGGGTTGTAGTGAGGCCTGAACAGGGCAATTTGAATGAAACACCTAGCACAGTGCCTACTGCATAGTCCCCACTCAGGAAGAATTAAGGGGTGGTTGCTGACATTTGTACTACTAACATACTGGAAGAAGAAAGGTAAGGAAAGCGTAAAAAGCCCAACAGAAGCCTGGCCACAGTACTTCCTCCCTTAATAGCTGATTCATACCTAGAAACAAAAATAACACACTGGTTTTGATGGCAATTCAAATTTCTCTAGGTTACTGAATTTTCAAATAGCAAGTGACTCTACCAAAAAAACATAATTAAGATCTCTACCCAAAGAATGCTCGCTCTTCCCTTGCTTTTCTTGTCTTGCCAAACTCAGGTACCACTAATTACCTCCTTCACAGTATTAAAGACAGGTAAGCCCAGATGTGTCTGGCCTCCTTTCCCTGGAGTGGTTCCTCCAACGAGTTTGGTGCC
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Task1_train_3793
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Located on Chromosome 2, this mutation impacts SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Mitochondrial DNA depletion syndrome 9
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GCAGTTTGTGCTTGACTCGTACCATGTCCTGCTGGGGAATTCCTTCAGTGATACACACAACCAAGGGAATTTCTGCCTCAATAGCTTCATTAATGGCAGCAGCAGCAAAAGGCGGAGGAACATAAATGACAGAAGCCGTTGCTCCTGTCTGTTCTTTGGCCTGAAACATTAACGACGAAGCACCTTATTATTTGTTAAATCATAAACATTGTAAAATAAATTCAATACCATCATTTTAATAATGTCTTGGGGTAAGAAAAGGACACTACCCAGAGACATAGCATTCTTCCCATTCTCAAATTTGCTACACTGTCAGAGTAGAACAGAATCAAGCATAGCCCTTTCTCAGCCCATTTGAATGCCACTGTGAATTGAAAGCTTCTGTGACATCTCACTCTCTATGGCATGTCAGTAAATCTGAAAGCAGCCTGACAGTGAACAGAGTCAAAGAATGCCAACATATCATCCACAAATGATGCCGGGGGTTAAAAATAATTTTTTAAAACTCTGTTCAAGATGATAACAGAGGGGGAGACACAAAAAACATTAAAACTAGTATGGAATCAAAAAAAGTCACATCATGGGGATGTAGGTACTTTAATGAAAAGTACCTACATTACATAGTTTTCTACCTCTAAAGTCTACAAATACTGCCAGAAGCTATACTGTGACAACAGCAAATATTGTGCTGGGACGTCATATGGATGAAAGGTACCAACCCTACTCATTCAAAAAGCCCTTTGTAAGAGCAGAACGGGTGAAAAATAAACAATATCTGTCAAAAAACTTATAGAATATTCCAAATGTCACAACTATTTGTGTCACTATAAATTATAAATGGATTGCTTAGCAAGAAGAACTTTCTTTAAAAAAAAAAAAAAAGCAAAAAGAGGCTCATGACAAAAGAAAAGTCAACCTAGAGGAATTGTAAAAAAACATCTCCTCTCTATATTTTGAGGTTATAAAATCAGCCATAATAGAATTTAAGGCAGGAAGGACTTTAAATTTGTGCTTTAAAAAATGTAATGCTTTAAAACATACCTTAAAAATATGCAAAAGAAGAGAGGAAGAATACATTTAAGGCTGATCAACACATCATCCCAAAGAACTAAGTTTATTTCCTAGATTTTTAAAATTAAATACCCAAGAATTTACACTATAGTTTCTTTTAAATACTATTAGTTTTGTATATATTCATATAAGAGTCAAAAGAGAATGAAAGACTACACACTGAGCTTAAATTAGCTCCCTACAGAGGCAAAATCTGAGATTTCGAAAACACTGTAAAATTTAACTTTACTTACTTTTTGTATCGTCTGAATTTTTACAAAAAGTACCTATCAGTTTTGTAACAAATAATAAAATTTAATTTAAAAATCATTTTAAAAGGTAACTATTAAGAAATCAGCAGTTTGCGGAGAATCTAGGACACTGTGATTTGTAAATCTGACTCTACAATTTAGTTTCTTCACACGGGACCACTCTACTCCAAGCCATCCTAAGCCTGCCACTTAATCAGTTGTGAGACCATGGGCAAGATCTCTAACCTCTTTGCACTAGTAACATCGTTATCTTTAAAATGAGGATGATAACAGCACCTACCTCCGAGGGTTGTAGTGAGGCCTGAACAGGGCAATTTGAATGAAACACCTAGCACAGTGCCTACTGCATAGTCCCCACTCAGGAAGAATTAAGGGGTGGTTGCTGACATTTGTACTACTAACATACTGGAAGAAGAAAGGTAAGGAAAGCGTAAAAAGCCCAACAGAAGCCTGGCCACAGTACTTCCTCCCTTAATAGCTGATTCATACCTAGAAACAAAAATAACACACTGGTTTTGATGGCAATTCAAATTTCTCTAGGTTACTGAATTTTCAAATAGCAAGTGACTCTACCAAAAAAACATAATTAAGATCTCTACCCAAAGAATGCTCGCTCTTCCCTTGCTTTTCTTGTCTTGCCAAACTCAGGTACCACTAATTACCTCCTTCACAGTATTAAAGACAGGTAAGCCCAGATGTGTCTGGCCTCCTTTCCCTGGAGTGGTTCCTCCAACGAGTTTGGTGCCATATTCCAATGCCTGCTGGCTGTGAAAGGTGCCCTGAGGGGAAAAAGCACAAGATCCATGAGAAACAGCAGACTGGTAAGCCCAAGAGAAGCAAAAGCAATCTTAGCAACTTAGGAAAAGAAAAACAAATAGGTTAACTATTCCCAGACAATAACATATATTTACTAAACATAGCTTTGAATCTTGAAGCAAAACAAGCCTCTGAAAAGCCAAAATAGCTATAAACAAGGCCTCTTTGATTCCCTGTTTTCAAACTTGGCTGATAACCAGAAACTCCCTGTTTCTCAACTCCTCATGTGCTCACACTCCTCAGTTTAAAATTCATGGTAGATCATTACCCTCCCACAACAATCTTGGCTTTCTCTCACTTCAACTTAAATATCTGGCAAAACCACAACCTGGGTCAAATCCAATTTTTCCCCTACTTCTAAGCCTATACATGTGCAGCCAAAAAGTGGCTAAGGGAAAAAAAAACAAAAAAACATGTCAACTGGTCTCATTTTAAATTAATGATCACTCACCTTAAGTAAGCCTTCAATACTGCCCACCCACCAACCTGTATTTCTCTATCCATTCACTTTTCCTCCTCAACCTCAGCATTATTGACATTTTGGACAGGATGATTCTTTCTTATGAGAGGTCATCCAGTGCCTAGTGGGACATTTAGCAGCATCCATGGGCTCCACTCATTAGATGCCAGTAGCACACCCTCCTAACTCTCATAATTCCATCCAGTTAATGACAACCAAAAACAGCTCCAAGGACTGATTCATTTTCACTAGGCTTCTGGGGCTTGACTTCCCCTGGTTTTCCTCTTCTCTTTCTCTCTCCTTAGTATTGGGGGAAATTCAGCCAGATATTGGGCAAAATTCACCCCCGATATTTCACTTAGGTTCTTTTCCATATTCCCTAAGTGTCAGCTGGTCTGAGAAATAAAGGGACAGAGTACAAAAGAGAGAAATTTTAAAGCTGGGTGTCCGGGGAAGACATCACATGTCGGCAGGTTCCATGATGCCCCCTAAGCCGTAAAACCAGCAAGTTTTTATTAGTGATTTTCAAAAGGGGAGGGAGTGTACAAATAGGGTGTGGGTCACAGAGATCATGTGCTTCACAAGGTAATAGAATATCACAAGGCAAATGGAGGCAGGGTGAGATCACAGGACCACAGGACCACAGGACCGGGGCGAAATTAAAATTGCTAATGAAGTTTCCAGCACGCATTGCATTGATAATATCTTATCAGGAGACAGGCTTTGAGAGCAGACAACCGGTCTGACCAAAAATTATTAGGCGGGAATTTTCTCATCCTAATAAGCCTGGGAGCACTACGGGAGACTGGGGCTTATTTCATCCCTACAGCTGCAACCACAAAAGATGGCCGCCCCCCGAAGTGGCCATTTTAGAGGCCTACCCTCAGGGATGCATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAAAAGAATTCAGAGATATTTCTCCCATTTGCTTTTGAAAAAATATGGCTCTGTTCCGCCCGGCTCACCGGTGGTCAGAGTTTAAGGTTATCTCTCTTGTTCCCTGAACATTGCTGTTATCCTGTTCCTTTTTCATGGTGCCCAGATTTCATATTGTTCAAACACACATGCTCTACAAACAATTTGTGCAGTTAATGCAATCATCACAGGGTCCTGAGGCGACATACATCCTCCTCAGCTCACAAAGATGATGGGACTAAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAGGATATTGATTGGGGAAGTGATAAGTGTCCATGAAATCATCACAATTTATGTTCAGAGATTGCAGTAAAGACAGGCGTAAGAAATTATAAAAGTATTAATTTGGGGAACTAATAAATGTCTATGAAATCTTCACAATTTATGTTCTTCTGCCGTGGCTTCAGCCGGTCCCTCCGTTCAGGGTTCCTGACTTCCCGCAACACCTTAGACTTCTCTTTTTCATCTAAATTCATGCCCTTGGTGATGTCATCCCTTATCATGGCAATACATATCATCCATAT
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GCAGTTTGTGCTTGACTCGTACCATGTCCTGCTGGGGAATTCCTTCAGTGATACACACAACCAAGGGAATTTCTGCCTCAATAGCTTCATTAATGGCAGCAGCAGCAAAAGGCGGAGGAACATAAATGACAGAAGCCGTTGCTCCTGTCTGTTCTTTGGCCTGAAACATTAACGACGAAGCACCTTATTATTTGTTAAATCATAAACATTGTAAAATAAATTCAATACCATCATTTTAATAATGTCTTGGGGTAAGAAAAGGACACTACCCAGAGACATAGCATTCTTCCCATTCTCAAATTTGCTACACTGTCAGAGTAGAACAGAATCAAGCATAGCCCTTTCTCAGCCCATTTGAATGCCACTGTGAATTGAAAGCTTCTGTGACATCTCACTCTCTATGGCATGTCAGTAAATCTGAAAGCAGCCTGACAGTGAACAGAGTCAAAGAATGCCAACATATCATCCACAAATGATGCCGGGGGTTAAAAATAATTTTTTAAAACTCTGTTCAAGATGATAACAGAGGGGGAGACACAAAAAACATTAAAACTAGTATGGAATCAAAAAAAGTCACATCATGGGGATGTAGGTACTTTAATGAAAAGTACCTACATTACATAGTTTTCTACCTCTAAAGTCTACAAATACTGCCAGAAGCTATACTGTGACAACAGCAAATATTGTGCTGGGACGTCATATGGATGAAAGGTACCAACCCTACTCATTCAAAAAGCCCTTTGTAAGAGCAGAACGGGTGAAAAATAAACAATATCTGTCAAAAAACTTATAGAATATTCCAAATGTCACAACTATTTGTGTCACTATAAATTATAAATGGATTGCTTAGCAAGAAGAACTTTCTTTAAAAAAAAAAAAAAAGCAAAAAGAGGCTCATGACAAAAGAAAAGTCAACCTAGAGGAATTGTAAAAAAACATCTCCTCTCTATATTTTGAGGTTATAAAATCAGCCATAATAGAATTTAAGGCAGGAAGGACTTTAAATTTGTGCTTTAAAAAATGTAATGCTTTAAAACATACCTTAAAAATATGCAAAAGAAGAGAGGAAGAATACATTTAAGGCTGATCAACACATCATCCCAAAGAACTAAGTTTATTTCCTAGATTTTTAAAATTAAATACCCAAGAATTTACACTATAGTTTCTTTTAAATACTATTAGTTTTGTATATATTCATATAAGAGTCAAAAGAGAATGAAAGACTACACACTGAGCTTAAATTAGCTCCCTACAGAGGCAAAATCTGAGATTTCGAAAACACTGTAAAATTTAACTTTACTTACTTTTTGTATCGTCTGAATTTTTACAAAAAGTACCTATCAGTTTTGTAACAAATAATAAAATTTAATTTAAAAATCATTTTAAAAGGTAACTATTAAGAAATCAGCAGTTTGCGGAGAATCTAGGACACTGTGATTTGTAAATCTGACTCTACAATTTAGTTTCTTCACACGGGACCACTCTACTCCAAGCCATCCTAAGCCTGCCACTTAATCAGTTGTGAGACCATGGGCAAGATCTCTAACCTCTTTGCACTAGTAACATCGTTATCTTTAAAATGAGGATGATAACAGCACCTACCTCCGAGGGTTGTAGTGAGGCCTGAACAGGGCAATTTGAATGAAACACCTAGCACAGTGCCTACTGCATAGTCCCCACTCAGGAAGAATTAAGGGGTGGTTGCTGACATTTGTACTACTAACATACTGGAAGAAGAAAGGTAAGGAAAGCGTAAAAAGCCCAACAGAAGCCTGGCCACAGTACTTCCTCCCTTAATAGCTGATTCATACCTAGAAACAAAAATAACACACTGGTTTTGATGGCAATTCAAATTTCTCTAGGTTACTGAATTTTCAAATAGCAAGTGACTCTACCAAAAAAACATAATTAAGATCTCTACCCAAAGAATGCTCGCTCTTCCCTTGCTTTTCTTGTCTTGCCAAACTCAGGTACCACTAATTACCTCCTTCACAGTATTAAAGACAGGTAAGCCCAGATGTGTCTGGCCTCCTTTCCCTGGAGTGGTTGCTCCAACGAGTTTGGTGCCATATTCCAATGCCTGCTGGCTGTGAAAGGTGCCCTGAGGGGAAAAAGCACAAGATCCATGAGAAACAGCAGACTGGTAAGCCCAAGAGAAGCAAAAGCAATCTTAGCAACTTAGGAAAAGAAAAACAAATAGGTTAACTATTCCCAGACAATAACATATATTTACTAAACATAGCTTTGAATCTTGAAGCAAAACAAGCCTCTGAAAAGCCAAAATAGCTATAAACAAGGCCTCTTTGATTCCCTGTTTTCAAACTTGGCTGATAACCAGAAACTCCCTGTTTCTCAACTCCTCATGTGCTCACACTCCTCAGTTTAAAATTCATGGTAGATCATTACCCTCCCACAACAATCTTGGCTTTCTCTCACTTCAACTTAAATATCTGGCAAAACCACAACCTGGGTCAAATCCAATTTTTCCCCTACTTCTAAGCCTATACATGTGCAGCCAAAAAGTGGCTAAGGGAAAAAAAAACAAAAAAACATGTCAACTGGTCTCATTTTAAATTAATGATCACTCACCTTAAGTAAGCCTTCAATACTGCCCACCCACCAACCTGTATTTCTCTATCCATTCACTTTTCCTCCTCAACCTCAGCATTATTGACATTTTGGACAGGATGATTCTTTCTTATGAGAGGTCATCCAGTGCCTAGTGGGACATTTAGCAGCATCCATGGGCTCCACTCATTAGATGCCAGTAGCACACCCTCCTAACTCTCATAATTCCATCCAGTTAATGACAACCAAAAACAGCTCCAAGGACTGATTCATTTTCACTAGGCTTCTGGGGCTTGACTTCCCCTGGTTTTCCTCTTCTCTTTCTCTCTCCTTAGTATTGGGGGAAATTCAGCCAGATATTGGGCAAAATTCACCCCCGATATTTCACTTAGGTTCTTTTCCATATTCCCTAAGTGTCAGCTGGTCTGAGAAATAAAGGGACAGAGTACAAAAGAGAGAAATTTTAAAGCTGGGTGTCCGGGGAAGACATCACATGTCGGCAGGTTCCATGATGCCCCCTAAGCCGTAAAACCAGCAAGTTTTTATTAGTGATTTTCAAAAGGGGAGGGAGTGTACAAATAGGGTGTGGGTCACAGAGATCATGTGCTTCACAAGGTAATAGAATATCACAAGGCAAATGGAGGCAGGGTGAGATCACAGGACCACAGGACCACAGGACCGGGGCGAAATTAAAATTGCTAATGAAGTTTCCAGCACGCATTGCATTGATAATATCTTATCAGGAGACAGGCTTTGAGAGCAGACAACCGGTCTGACCAAAAATTATTAGGCGGGAATTTTCTCATCCTAATAAGCCTGGGAGCACTACGGGAGACTGGGGCTTATTTCATCCCTACAGCTGCAACCACAAAAGATGGCCGCCCCCCGAAGTGGCCATTTTAGAGGCCTACCCTCAGGGATGCATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAAAAGAATTCAGAGATATTTCTCCCATTTGCTTTTGAAAAAATATGGCTCTGTTCCGCCCGGCTCACCGGTGGTCAGAGTTTAAGGTTATCTCTCTTGTTCCCTGAACATTGCTGTTATCCTGTTCCTTTTTCATGGTGCCCAGATTTCATATTGTTCAAACACACATGCTCTACAAACAATTTGTGCAGTTAATGCAATCATCACAGGGTCCTGAGGCGACATACATCCTCCTCAGCTCACAAAGATGATGGGACTAAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAGGATATTGATTGGGGAAGTGATAAGTGTCCATGAAATCATCACAATTTATGTTCAGAGATTGCAGTAAAGACAGGCGTAAGAAATTATAAAAGTATTAATTTGGGGAACTAATAAATGTCTATGAAATCTTCACAATTTATGTTCTTCTGCCGTGGCTTCAGCCGGTCCCTCCGTTCAGGGTTCCTGACTTCCCGCAACACCTTAGACTTCTCTTTTTCATCTAAATTCATGCCCTTGGTGATGTCATCCCTTATCATGGCAATACATATCATCCATAT
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Task1_train_3794
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Here is a variant affecting ELMOD3 (ELMO domain containing 3) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 88
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CAAGACCACCTGCAGGTTCAATGATTCCTGAGAGACTCAAGGGACTCTACGTATAGTTATACTTAACAGTTCTGATTTAGTACAACAGAAGCAAAATCAGCAAAGGGAAGAATTACATGGGACAAATTCCACAGGAAACCAGGTGGTGATGTCCAAGAGGCCTCTCCCAGTGGAATCACACAGAACACACTTCATTCTTCCACTGCCAAATTGTGCAATACGTATAAAATGTCACCAATCAGGGAAGCTCATTAGAGGTACCCAGTACTCAAGGTTTTTACCATGACATGCTGGTCATGTAGGCACCCTCTGCCTAGCACATACCAAAACTCTGGAATCACAGAGGGAAAGCTGGTGTTCTGCATAAAGTATCTTTTTTGTGTTTGTTTTTTTGAAAAAAAAAAAATTTTTTTGTAGAGACAGGATCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTAGACTCAAGTGATCCATCCGCCTGTAATCCCAAAGTGTTGGATTGTGAGCCCTGGGCCCAGCCAGCAAAAACTATCTTGTTTGCATGAGCAGTTGAGGAACAATGTTAGGGAATGATGGGAACCATCTCAAAATCCAAGTTCTCAGCTGTCAGCCATGGCCTGATCTAAGAATTTTCTAAGGCTCAGGCTCTAAGGAGTCTCAGGCCTGCTGTGTTAACTTTTTTCTGCACAGCACTCAAAGTTTATGTCCTTTTTGATTTTGAGAGATGGGAAGACTGAGTTTCACAGAGGTTGGGTGACCTTCTCAAGGACACACAGCTACCAGGTAGCCAGGCCAAGATCTGGAATTCAGGTATCATGGAAGACCCTGAGAAAAATCTCTGTGGAGCCAGAAGACCTTCTGCAGTTCAGCACTGTCCAGAACTTTCTGCAGTGACAGAAGTGGTCTAGATATTGGAAATGCACCATCCAGTACAGCAGCCACTAAGCACACGTGACTACTGAGCACTGGAAATGTGGCTAGTACCACTAAGGAGCTGAATTTATATTTGTTTTTCATCTTTAACTCATTTAAATAGCTACATGCAGCTGGTTGCCACCATACTGGGCAGTACAGTTCTATACTATAATGTAATGGATTTTTCTTCAACTGGGAAGCAGGTGGGATAAATAGACCTTGGTTCTTGTTCTGTACTAAGGAATGCACTGGTCTATGTGTTCCTCTCACTGGGTGTCCTTGTGTATGTGCAACAGGGGAAAATAACATGTCATGTCTGCAAGTTCCCTGAAAAAAAGGCCCTTTCCATTCAGGGATTTTGCAAGCTTGGTTTCATTGTTATTAAAGAAAGGAGCTTGCCTGACTAAACATAGAGCATTAAAGCTGTCCCTGTAGGGGATTCTGAGGCCCTTCCTGGTGAAGCTCCCCTGCCAGACTCAGGCTGCCTCCTCTTGGGGTCTGACCCGCACAGCTGGCTCTCAGGCCTCTGTGTTATCGTGAGATGGGGTGTCCCCCCAAGTCAGGATGACCTTCTACCCACGTGCGTCTTCTCTGTCTTAGGATGAGGTGCTCACGATCAGCCAGACAACCAGAAGCCCAAAGAAGGGGAGAGGAGACTTTAAGAACCCGTAGGGCTAGTTAGAGCACCGAGCCTCTCACTTCTGTCTTCATCCTGACACCAGGAGATGATGTGGGCCCAGGGGTTGGGTCTGCTGCAGGCCAAGGAGAGCTGACGGGTCAGGATGATGAAGAGGCTGGAGAGCTAGCACGGGGGTTATGCACATCAGCTCTGGAGCAAATAACCTCAGTTGGTATCCTGGTTCCCATGCCTTAGGAAAGTTACTAAAGGTCACTGAGCCTTAGTTCCTCATCTGTAAGATGGGAAGAAGATTATTAGGAAAATTAAGTGGAAGCAATAATAATATCAGCTGTTGCCTCTGGGGCTGTGCTTGCCTGCGAGCCACACCAGGCTGCAGATGACAGGAAACACAGTGAGAGCTGGAGTTGCTGCTGACTGGGTGCCCCTCCATTCCAGCAATTCCCTTTCTGTTTGATGTCCGTGAACATCACCCACATTGCCATCCAGGCCTTGAGAGAGGAGTGTCTCTCCAGGTGAGTCCCCAAACACCAGCTGGTTAGAGTGACCCAGCAAAGCCTTGTTCGTCCCCACTCTGGCTTAATTTTCCCCAGCTCTACTCCACCTGCTGGCTCCTGGAGGGCCTGGACAAAGTCCCCATGCACCGGTCTCCCCAGGACATCCCTTCTCCCACCCCTGGCCTTAGATGTCAGGCTCCTGGGGAATGGTGGGGGCATCCTGGGTTTGGGCTGGCTCCCCTGGGGAAATGGGGAAGGAAGGCGGGAGGGAACCTAGGTCTCAGCCTTCATCCACCGCTGAGCAGGTCACCTTGCCTTTTTCCTGCAGAGAGTGTAATCGGCAGCAGAAGGTCATCCCCGTGGTGAACAGCTTCTATGCCGCCACATTCCTCCACCTCGCACATGTCTGGAGGACACAGCGGAAGACCATCTCAGACTCGGGCTTTGTCCTCAAAGGTGTGCTCTTTCTTCTGGGGAGGCCTAGGCTGAATGCACAGTGTCCCAGGTCCAGAGAGCCCAAGGTGGTTGCTAGACTGGTTTTGGCTGCAGTTCTTCCCCATCCACACTTTCTCAAATTCCAGCTTACCAAAATCTCCATCACCCACCCCCTGGAGTCTGCTAGTTCTCCTTTCTCTGCCCTGACTGTCGCCCTTTTCTGGTCTTATACTTATGACAAGCATATATTCTGATCAAAAATTGGGAGCCAGGGTCCAATAGTTGGACTATTCAAAGTTGCAATTGTGCAGACAAGGTAGAGTGTGTGGTCCCTGTGGCTGTAGCTGGCTCCCTAGCCTACCTCTCTGGTGATCTCTCCATCTGAGGCTCCTTCACTTTCTCTCCATGGGATAGGGGTTGGGGGTACTCCCTAGAGCTGCTAGGCTTGAGGCCTTGACTGTTGTGTCACCCAGAGCCCCCTCAAGCCTTCTGCTCCCCAATTCTCTCTGTTGCAGAGTTGGAAGTATTGGCCAAGAAGAGCCCACGGCGGCTGCTCAAGACCCTGGAGCTGTACTTGGCCAGGGTGTCAAAGGGACAGGCCTCCTTGTTGGGAGCACAGAAGTGCTATGGGCCAGAAGCCCCTCCCTTCAAGGATCTCACCTTCACAGGTGAGAGTGACCTGCAGTCTCACTCATCCGAAGGCGTATGGCTGATCTGACCTCCGAGATGAATGGAGGCTTAAAGGCTGAGCTGCAGGGGCTTTCAGGGGGTCAGTGGAGCCATGTCAGGAGCCTGGCCAGGCCGCACCCCTTGCTGTCTCAGCAGATGGGATATAGGAAGCTCCTGGGCTTAGCTGTGGGAAGCCAAGTACCCTCACCGGCATGGGACATGAGGGGCAGCTAGACTTCACCCCCTTCCCGCAGACCTGCCTCCAGAGCAAGGAGAATTCTGCCTTAATCTGTTGGGCTCCAGTCTCCGGGTTGAATTCCAGTGTATCCCACTGGGAGTGAATGGATCATGAGGTGGGATGGCCCCATCTGGATGTTCTGCAGATCCCCACATGGGAGGAGATTCCCAAGTAGAGGCAGCCAGAATTCTGACTCCCTGGCAGCAGCAGGGCTTTCAGGCACCAGTGTCTGTGTTGTTAGAACTCAGAGGAAGAGGCAGGGGCAGCAGCCGACAGGGGGCAGCATGACCCAAGCAAGGGGCCTGAGGCCTCAGTGGGGGTAGGGCAAGGAGGTACCTCACAGGTGGGTGTGAGGCCCCCTCTGGAGTTTCTGGCCATTCACTTACCCACTCTCTTCTCCCCCTGACCCCCGCTCCATTGTTTATGATGGAAAAACGGACATTTGGCTAGGTGTCTCTCACGGCTGCTCCATCCTAGCCCCCACAAGCTGGGGCTTCCTCCTGTAGATGCTGTGCATGCCCCATGATGAGTTTCTGGCCTAATTGAGGGAAGGAGGAAATTCATACCAGCAGTTTTCAAATAAAAGAATTGTTCTAATTAAGCGTCTCAGGTGTTTTTTTCCAAGACAAGTCTTGCACCATCCTGTGGTCCTGTCATTCCGGAACCTGGTTAGAGCCAGGCACACCTAAGGGTGAAGGCATA
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CAAGACCACCTGCAGGTTCAATGATTCCTGAGAGACTCAAGGGACTCTACGTATAGTTATACTTAACAGTTCTGATTTAGTACAACAGAAGCAAAATCAGCAAAGGGAAGAATTACATGGGACAAATTCCACAGGAAACCAGGTGGTGATGTCCAAGAGGCCTCTCCCAGTGGAATCACACAGAACACACTTCATTCTTCCACTGCCAAATTGTGCAATACGTATAAAATGTCACCAATCAGGGAAGCTCATTAGAGGTACCCAGTACTCAAGGTTTTTACCATGACATGCTGGTCATGTAGGCACCCTCTGCCTAGCACATACCAAAACTCTGGAATCACAGAGGGAAAGCTGGTGTTCTGCATAAAGTATCTTTTTTGTGTTTGTTTTTTTGAAAAAAAAAAAATTTTTTTGTAGAGACAGGATCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTAGACTCAAGTGATCCATCCGCCTGTAATCCCAAAGTGTTGGATTGTGAGCCCTGGGCCCAGCCAGCAAAAACTATCTTGTTTGCATGAGCAGTTGAGGAACAATGTTAGGGAATGATGGGAACCATCTCAAAATCCAAGTTCTCAGCTGTCAGCCATGGCCTGATCTAAGAATTTTCTAAGGCTCAGGCTCTAAGGAGTCTCAGGCCTGCTGTGTTAACTTTTTTCTGCACAGCACTCAAAGTTTATGTCCTTTTTGATTTTGAGAGATGGGAAGACTGAGTTTCACAGAGGTTGGGTGACCTTCTCAAGGACACACAGCTACCAGGTAGCCAGGCCAAGATCTGGAATTCAGGTATCATGGAAGACCCTGAGAAAAATCTCTGTGGAGCCAGAAGACCTTCTGCAGTTCAGCACTGTCCAGAACTTTCTGCAGTGACAGAAGTGGTCTAGATATTGGAAATGCACCATCCAGTACAGCAGCCACTAAGCACACGTGACTACTGAGCACTGGAAATGTGGCTAGTACCACTAAGGAGCTGAATTTATATTTGTTTTTCATCTTTAACTCATTTAAATAGCTACATGCAGCTGGTTGCCACCATACTGGGCAGTACAGTTCTATACTATAATGTAATGGATTTTTCTTCAACTGGGAAGCAGGTGGGATAAATAGACCTTGGTTCTTGTTCTGTACTAAGGAATGCACTGGTCTATGTGTTCCTCTCACTGGGTGTCCTTGTGTATGTGCAACAGGGGAAAATAACATGTCATGTCTGCAAGTTCCCTGAAAAAAAGGCCCTTTCCATTCAGGGATTTTGCAAGCTTGGTTTCATTGTTATTAAAGAAAGGAGCTTGCCTGACTAAACATAGAGCATTAAAGCTGTCCCTGTAGGGGATTCTGAGGCCCTTCCTGGTGAAGCTCCCCTGCCAGACTCAGGCTGCCTCCTCTTGGGGTCTGACCCGCACAGCTGGCTCTCAGGCCTCTGTGTTATCGTGAGATGGGGTGTCCCCCCAAGTCAGGATGACCTTCTACCCACGTGCGTCTTCTCTGTCTTAGGATGAGGTGCTCACGATCAGCCAGACAACCAGAAGCCCAAAGAAGGGGAGAGGAGACTTTAAGAACCCGTAGGGCTAGTTAGAGCACCGAGCCTCTCACTTCTGTCTTCATCCTGACACCAGGAGATGATGTGGGCCCAGGGGTTGGGTCTGCTGCAGGCCAAGGAGAGCTGACGGGTCAGGATGATGAAGAGGCTGGAGAGCTAGCACGGGGGTTATGCACATCAGCTCTGGAGCAAATAACCTCAGTTGGTATCCTGGTTCCCATGCCTTAGGAAAGTTACTAAAGGTCACTGAGCCTTAGTTCCTCATCTGTAAGATGGGAAGAAGATTATTAGGAAAATTAAGTGGAAGCAATAATAATATCAGCTGTTGCCTCTGGGGCTGTGCTTGCCTGCGAGCCACACCAGGCTGCAGATGACAGGAAACACAGTGAGAGCTGGAGTTGCTGCTGACTGGGTGCCCCTCCATTCCAGCAATTCCCTTTCTGTTTGATGTCCGTGAACATCACCCACATTGCCATCCAGGCCTCGAGAGAGGAGTGTCTCTCCAGGTGAGTCCCCAAACACCAGCTGGTTAGAGTGACCCAGCAAAGCCTTGTTCGTCCCCACTCTGGCTTAATTTTCCCCAGCTCTACTCCACCTGCTGGCTCCTGGAGGGCCTGGACAAAGTCCCCATGCACCGGTCTCCCCAGGACATCCCTTCTCCCACCCCTGGCCTTAGATGTCAGGCTCCTGGGGAATGGTGGGGGCATCCTGGGTTTGGGCTGGCTCCCCTGGGGAAATGGGGAAGGAAGGCGGGAGGGAACCTAGGTCTCAGCCTTCATCCACCGCTGAGCAGGTCACCTTGCCTTTTTCCTGCAGAGAGTGTAATCGGCAGCAGAAGGTCATCCCCGTGGTGAACAGCTTCTATGCCGCCACATTCCTCCACCTCGCACATGTCTGGAGGACACAGCGGAAGACCATCTCAGACTCGGGCTTTGTCCTCAAAGGTGTGCTCTTTCTTCTGGGGAGGCCTAGGCTGAATGCACAGTGTCCCAGGTCCAGAGAGCCCAAGGTGGTTGCTAGACTGGTTTTGGCTGCAGTTCTTCCCCATCCACACTTTCTCAAATTCCAGCTTACCAAAATCTCCATCACCCACCCCCTGGAGTCTGCTAGTTCTCCTTTCTCTGCCCTGACTGTCGCCCTTTTCTGGTCTTATACTTATGACAAGCATATATTCTGATCAAAAATTGGGAGCCAGGGTCCAATAGTTGGACTATTCAAAGTTGCAATTGTGCAGACAAGGTAGAGTGTGTGGTCCCTGTGGCTGTAGCTGGCTCCCTAGCCTACCTCTCTGGTGATCTCTCCATCTGAGGCTCCTTCACTTTCTCTCCATGGGATAGGGGTTGGGGGTACTCCCTAGAGCTGCTAGGCTTGAGGCCTTGACTGTTGTGTCACCCAGAGCCCCCTCAAGCCTTCTGCTCCCCAATTCTCTCTGTTGCAGAGTTGGAAGTATTGGCCAAGAAGAGCCCACGGCGGCTGCTCAAGACCCTGGAGCTGTACTTGGCCAGGGTGTCAAAGGGACAGGCCTCCTTGTTGGGAGCACAGAAGTGCTATGGGCCAGAAGCCCCTCCCTTCAAGGATCTCACCTTCACAGGTGAGAGTGACCTGCAGTCTCACTCATCCGAAGGCGTATGGCTGATCTGACCTCCGAGATGAATGGAGGCTTAAAGGCTGAGCTGCAGGGGCTTTCAGGGGGTCAGTGGAGCCATGTCAGGAGCCTGGCCAGGCCGCACCCCTTGCTGTCTCAGCAGATGGGATATAGGAAGCTCCTGGGCTTAGCTGTGGGAAGCCAAGTACCCTCACCGGCATGGGACATGAGGGGCAGCTAGACTTCACCCCCTTCCCGCAGACCTGCCTCCAGAGCAAGGAGAATTCTGCCTTAATCTGTTGGGCTCCAGTCTCCGGGTTGAATTCCAGTGTATCCCACTGGGAGTGAATGGATCATGAGGTGGGATGGCCCCATCTGGATGTTCTGCAGATCCCCACATGGGAGGAGATTCCCAAGTAGAGGCAGCCAGAATTCTGACTCCCTGGCAGCAGCAGGGCTTTCAGGCACCAGTGTCTGTGTTGTTAGAACTCAGAGGAAGAGGCAGGGGCAGCAGCCGACAGGGGGCAGCATGACCCAAGCAAGGGGCCTGAGGCCTCAGTGGGGGTAGGGCAAGGAGGTACCTCACAGGTGGGTGTGAGGCCCCCTCTGGAGTTTCTGGCCATTCACTTACCCACTCTCTTCTCCCCCTGACCCCCGCTCCATTGTTTATGATGGAAAAACGGACATTTGGCTAGGTGTCTCTCACGGCTGCTCCATCCTAGCCCCCACAAGCTGGGGCTTCCTCCTGTAGATGCTGTGCATGCCCCATGATGAGTTTCTGGCCTAATTGAGGGAAGGAGGAAATTCATACCAGCAGTTTTCAAATAAAAGAATTGTTCTAATTAAGCGTCTCAGGTGTTTTTTTCCAAGACAAGTCTTGCACCATCCTGTGGTCCTGTCATTCCGGAACCTGGTTAGAGCCAGGCACACCTAAGGGTGAAGGCATA
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Task1_train_3795
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A variant has been detected on Chromosome 2 in GGCX (gamma-glutamyl carboxylase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
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ACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACGGCACCCAGCCCCCAAAAAGCCACTTTAAACCTTATCCTAGGAGGACAGTTTCACATTGCGTCTAACCTCTTCCTGGCCTCTTAATCTTGGGTTGTTAAATCTTATTTGCTTTATTTCCTTGGTTCCTCTAAGTTGTAATCTCGGAGTTAAAAACAGCTTTAGAACCCCGCCCCCCCAAAAAAAAAAAAAAAACTTTTGAGAATTTTTTTCAAATAAATGTCCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAG
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ACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACGGCACCCAGCCCCCAAAAAGCCACTTTAAACCTTATCCTAGGAGGACAGTTTCACATTGCGTCTAACCTCTTCCTGGCCTCTTAATCTTGGGTTGTTAAATCTTATTTGCTTTATTTCCTTGGTTCCTCTAAGTTGTAATCTCGGAGTTAAAAACAGCTTTAGAACCCCGCCCCCCCAAAAAAAAAAAAAAAACTTTTGAGAATTTTTTTCAAATAAATGTCCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCTCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAG
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Task1_train_3796
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Gene GGCX (gamma-glutamyl carboxylase) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
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AAAAAAAACTTTTGAGAATTTTTTTCAAATAAATGTCCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTG
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AAAAAAAACTTTTGAGAATTTTTTTCAAATAAATGTCCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCTTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTG
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Task1_train_3797
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The gene GGCX (gamma-glutamyl carboxylase) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Vitamin K-dependent clotting factors, combined deficiency of, type 1
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CCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAA
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CCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCGAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAA
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Task1_train_3798
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Consider a variant on Chromosome 2 in gene GGCX (gamma-glutamyl carboxylase). Determine its clinical classification and disease relevance.
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Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
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CTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTC
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CTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACGAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTC
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Task1_train_3799
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Here is a variant affecting GGCX (gamma-glutamyl carboxylase) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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AACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTCTTATCCCCATTTATGCCTACTTCA
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AACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACAGGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTCTTATCCCCATTTATGCCTACTTCA
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Subsets and Splits
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