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_5900
|
The gene CAV3, SSUH2 (caveolin 3| ssu-2 homolog) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Rippling muscle disease 2
|
GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
|
GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCAAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
|
Task1_train_5901
|
A variant affecting Chromosome 3, within the gene CAV3, SSUH2 (caveolin 3| ssu-2 homolog), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Distal myopathy, Tateyama type
|
GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
|
GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCAAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
|
Task1_train_5902
|
The gene CAV3, SSUH2 (caveolin 3| ssu-2 homolog), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Long QT syndrome
|
GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
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GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCAAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
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Task1_train_5903
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This sequence variant lies in CAV3, SSUH2 (caveolin 3| ssu-2 homolog) on Chromosome 3. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Long QT syndrome 9
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GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
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GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCAAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
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Task1_train_5904
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The gene CAV3, SSUH2 (caveolin 3| ssu-2 homolog), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Rippling muscle disease 2
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GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
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GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCAAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
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Task1_train_5905
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Given a variant located on Chromosome 3 and affecting CAV3, SSUH2 (caveolin 3| ssu-2 homolog), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Elevated circulating creatine kinase concentration
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GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
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GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCAAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
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Task1_train_5906
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Chromosome 3 houses a mutation in gene CAV3, SSUH2 (caveolin 3| ssu-2 homolog). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Distal myopathy, Tateyama type
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GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
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GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCAAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
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Task1_train_5907
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A variant has been detected on Chromosome 3 in CAV3, SSUH2 (caveolin 3| ssu-2 homolog). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Hypertrophic cardiomyopathy 1
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GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
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GAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCAAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTA
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Task1_train_5908
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This sequence variant lies in CAV3 (caveolin 3) on Chromosome 3. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Rippling muscle disease 2
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TATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTATAGC
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TATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGAACCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTATAGC
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Task1_train_5909
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Gene CAV3 (caveolin 3) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Long QT syndrome
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TAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTATAGCAC
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TAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCTCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTATAGCAC
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Task1_train_5910
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With a mutation on Chromosome 3 in gene CAV3 (caveolin 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Long QT syndrome
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TTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTATAGCACAGTGTGAAAGCTG
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TTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAAAGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTATAGCACAGTGTGAAAGCTG
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Task1_train_5911
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Here is a genetic alteration in CAV3 (caveolin 3) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Long QT syndrome
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TTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTATAGCACAGTGTGAAAGCTG
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TTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAAGGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGTATAGCACAGTGTGAAAGCTG
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Task1_train_5912
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This mutation occurs in CAV3, OXTR (caveolin 3| oxytocin receptor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Long QT syndrome
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AAGAGATTAAGTCATCTCTGATGAAACCTGCAGCAGAGAAAGCTGGGGGCCAAGATTATACAAGGAAGGTCCTGGGAGGTCAGCTTTTCCATTTCTCCTGCAGCCCAGAGTCTCACCCTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAAAGGGACTAACTAACCAGGAAGATTGAAGTTGGAGCCTCAGCCCTGCAGGCCACCACACAGGCCCCTCCTGTTGATCTGATTAGTCTGTACCTGCATCCACCCCCTTTTAATTTGAATGGCCCAGGAGCACTGCTAGAAAGAAAACATCTCAGAACAGTTTCAGGCATTAGCAAACAGCTCTGCAACCTCCCACTTGGCGGGCTGTACTGGTAACAACCATGGGGAGACCAGTCATGAAGCAGCTAATTTGGTTCACTGCTGTTTAATTGACCAGTGGAATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCCCCGCCTCCCGGGTTTATGCCGTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGACACCCGCTGCCATACCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGGACCAGTGGATTTTACAGCCTCCCATCCTTTCATCCTCATGATACCACTGGAAGACGTTCATTGACTCCATCTTACAGACAAGACAGCTGAGGCTTAGTGATGCTAAGTGACATCACCCATGTGTAGGCAGCTAGGAAGGTGCTTCATGCATAGCAGGGCTCGAGAGAGCTTAGGTAAGCGATGTGAGGAACCTCTGCCTGTTCACCATCCAATCCACAGGTGCTCAGTAAATTGCTGTAGGATGCATACGACCGTCCAACACCCTTCAGATCATAAAACAATAGAATTTGAGAGCTGCGACTATAGCACTGCCACTAAGTCACTGTTGGCTTTAAGCAAGTCGCTCACCTTGAGGGGGTTGAACGAGCGTGTTGTGTTGGTCAGCGGTGCCTAGGAACAGCAGCAGCTTGGGCTCAACAGGGAGCTTGTTAGAAATACAGAGCCTTAGGCCCCACTCCAGACTTGGGGAGTCGGAATCCCTGGGGCGATGATATGGTCTGGATCTGTGTCCCCTCTAAACCTCATGGTGAAACATAATCTCCAATATTGGAGGTGGGGCCGGGTGGGAGGTGATCGGATCACAGAGGCAGATCCCTCGTGGCTTAGTGCTGTCCTCACAATAGTGGGAGAGTTCTCATAAGATCTGGTTGTTGTAAAGTGTGGCACTCCACCCCCTGCCCAGCTCTCTCTCTTGCTCCCACTCTCACCAGGGGAGACGCCTGCTCTCCCTTCTCTAGCCATGGTTGAAAGCTCCCTGCGGCCTCACCTGAAGCCAAGCAGATGCCAGCACCATGATTCCTGCACAGATCACAGACCCATGGGCCAATTAAACCTCCTTTCTTTATCAATTACCCAGCCTCAGGTATGTCTTTAAAGCAATGCAAGAATAGCCTAATACAGGTAGGGTCCAGCCACCAAGGTTAACCTGACCTCTAGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTGAGAAGCGGGTGGCTTCTGTGAGTTGAGGCTTCCCCTTGCCACCCCTGCAGGTGGATTTTGAAGACGTGATCGCAGAGCCTGTGGGCACCTACAGCTTTGACGGCGTGTGGAAGGTGAGCTACACCACCTTCACTGTCTCCAAGTACTGGTGCTACCGTCTGTTGTCCACGCTGCTGGGCGTCCCACTGGCCCTGCTCTGGGGCTTCCTGTTCGCCTGCATCTCCTTCTGCCACATCTGGGCGGTGGTGCCATGCATTAAGAGCTACCTGATCGAGATCCAGTGCATCAGCCACATCTACTCACTCTGCATCCGCACCTTCTGCAACCCACTCTTCGCGGCCCTGGGCCAGGTCTGCAGCAGCATCAAGGTGGTGCTGCGGAAGGAGGTCTAAAGCCAGGTGGGGCAACAGCGGTGGCAGGGCAGGGGGTGGTGGGCCAGACTGGTCCCCGGGGGACTTCTTCACAGGGGCTGCTGGCGAGCTCTTTCTCTTTAGGGACTGCTCCATACCCCATGATGGAGCACACGGTGTAGGGAAGCCAGAAAGAAAAGACGGCCCAGCCACAGAAGCACAATGGCCCTTCGCTCTCCCCCAGCCCCACCATGATGCCCCCATGCCTGGGCGTGGGGGAAGATCATTTGCCAAGAGGCAGCTACTGCAAGTCTTTGCGTTCACTTGTACTGTAACAACATAAACCAGCACGCGGTTCCCACCCGGGGCCAACCTCTCCACGCGCACTCAGGAAAGTGACCAGTGACCACTGGCGTTAGGAAGGTGGCTCCAGTAAAGGGTTTTGGCTGCATTTGGGGAATGCTGCATTTTGTTCGTGCCTGTAAGATTGGTTTGTGTCCTGACCAGCTCCAAAAATATACTTCACTGCCCTGAAAAACAGACACAGGGAGAGTTGGTTGTCTCTTCACTTGGCCAAATGTAAGTGAAGAACAGAGTCTTTTTCTTCTTCGGATTCTATTGTTTGCTGGAACCGTACACGTTCCTTGGAAGATCATGTTTAAGTGACTCCTGTTGCCTGAGCACAAAAATGGGCACCAATGGAGGAAAATGACCCTTGGGCTGGCAGGGGCAGTGACCCTTCCAGGGTACCACTGAGGGAAGGGCCTGGGTTCAAGCCTCCCGGAACCTCCCCTTTGGCTAACCGAGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTACCTTCGCCCTCAGGAGATGTGACGAAGGAACAAGGTCTAATTTGTGCGTGTGTGGACTCACTATGGAAATAAAATGCAGTAGAAAGAGCATGTATCACTTCCTCCCTCCTCACACTCTCTCTCTCTCTCACACACACACACACACACAGTGCCCTTATCTTCTTTAGGGCTGTCTTTTCCGAGTGTGCTATCCAGAACTTAGCCATTAAAAAAGAAAGGATGGGGATGGGTGTTAGCATCTGTGGTCCGGTTCTTTCAGAAATGCTGTATATTTCTCTCAGAGATTTTCAATAGACTTTGGCACATTAAAGGCTCTGACATGTCCTGCAGTAGATAAACCTGTTTAAACCAGTATCCCCCCAATCCTATCTGACCTTTTTTTTTTCTTTTTTTCTTTTCATGCAACGCCCATTTAAGTCTCATATAATTAAAGTTCCACAGCACTTGTCAGGTTTTCGGAGACATTATTCATGCCTGGCCACGAGCCCAGTGGTCTTGGGAGGCAGTGTGGTGAAGTGGACCACACACAGCTTGGGAACTAGGACGCAGGCAGCCTTGGTTCTAGTCCTGCTTCCGCTCCTAGTTGCCTTTTCTGCCTCAATTTTATCACCCACAAATTGATCTCTAATGTGCATTTTGGCTCCAAAATTTTACCCAATTTTGGTTTTCTCCTAACATTGTATGTAAATTTCAAACACAGAAAAGTTGAACAGCTACATACCCATCTTGGCTCTATCATTAACGTTTTTCTACCCCAGCTTTCTTACATCCCTATTCATCTATCCACCCCTCTATCCATCCCACCAATCTCATCTTTACGCATGTTTAAATACGTTGTAGAGATCAGCACATTTTACCCCTAAACACTTCATCATTTAGCCCTTGTTTCTGCAGATGAGAAAGTTACAGTCCAGAGAAGTCAG
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AAGAGATTAAGTCATCTCTGATGAAACCTGCAGCAGAGAAAGCTGGGGGCCAAGATTATACAAGGAAGGTCCTGGGAGGTCAGCTTTTCCATTTCTCCTGCAGCCCAGAGTCTCACCCTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAAAGGGACTAACTAACCAGGAAGATTGAAGTTGGAGCCTCAGCCCTGCAGGCCACCACACAGGCCCCTCCTGTTGATCTGATTAGTCTGTACCTGCATCCACCCCCTTTTAATTTGAATGGCCCAGGAGCACTGCTAGAAAGAAAACATCTCAGAACAGTTTCAGGCATTAGCAAACAGCTCTGCAACCTCCCACTTGGCGGGCTGTACTGGTAACAACCATGGGGAGACCAGTCATGAAGCAGCTAATTTGGTTCACTGCTGTTTAATTGACCAGTGGAATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCCCCGCCTCCCGGGTTTATGCCGTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGACACCCGCTGCCATACCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGGACCAGTGGATTTTACAGCCTCCCATCCTTTCATCCTCATGATACCACTGGAAGACGTTCATTGACTCCATCTTACAGACAAGACAGCTGAGGCTTAGTGATGCTAAGTGACATCACCCATGTGTAGGCAGCTAGGAAGGTGCTTCATGCATAGCAGGGCTCGAGAGAGCTTAGGTAAGCGATGTGAGGAACCTCTGCCTGTTCACCATCCAATCCACAGGTGCTCAGTAAATTGCTGTAGGATGCATACGACCGTCCAACACCCTTCAGATCATAAAACAATAGAATTTGAGAGCTGCGACTATAGCACTGCCACTAAGTCACTGTTGGCTTTAAGCAAGTCGCTCACCTTGAGGGGGTTGAACGAGCGTGTTGTGTTGGTCAGCGGTGCCTAGGAACAGCAGCAGCTTGGGCTCAACAGGGAGCTTGTTAGAAATACAGAGCCTTAGGCCCCACTCCAGACTTGGGGAGTCGGAATCCCTGGGGCGATGATATGGTCTGGATCTGTGTCCCCTCTAAACCTCATGGTGAAACATAATCTCCAATATTGGAGGTGGGGCCGGGTGGGAGGTGATCGGATCACAGAGGCAGATCCCTCGTGGCTTAGTGCTGTCCTCACAATAGTGGGAGAGTTCTCATAAGATCTGGTTGTTGTAAAGTGTGGCACTCCACCCCCTGCCCAGCTCTCTCTCTTGCTCCCACTCTCACCAGGGGAGACGCCTGCTCTCCCTTCTCTAGCCATGGTTGAAAGCTCCCTGCGGCCTCACCTGAAGCCAAGCAGATGCCAGCACCATGATTCCTGCACAGATCACAGACCCATGGGCCAATTAAACCTCCTTTCTTTATCAATTACCCAGCCTCAGGTATGTCTTTAAAGCAATGCAAGAATAGCCTAATACAGGTAGGGTCCAGCCACCAAGGTTAACCTGACCTCTAGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTGAGAAGCGGGTGGCTTCTGTGAGTTGAGGCTTCCCCTTGCCACCCCTGCAGGTGGATTTTGAAGACGTGATCACAGAGCCTGTGGGCACCTACAGCTTTGACGGCGTGTGGAAGGTGAGCTACACCACCTTCACTGTCTCCAAGTACTGGTGCTACCGTCTGTTGTCCACGCTGCTGGGCGTCCCACTGGCCCTGCTCTGGGGCTTCCTGTTCGCCTGCATCTCCTTCTGCCACATCTGGGCGGTGGTGCCATGCATTAAGAGCTACCTGATCGAGATCCAGTGCATCAGCCACATCTACTCACTCTGCATCCGCACCTTCTGCAACCCACTCTTCGCGGCCCTGGGCCAGGTCTGCAGCAGCATCAAGGTGGTGCTGCGGAAGGAGGTCTAAAGCCAGGTGGGGCAACAGCGGTGGCAGGGCAGGGGGTGGTGGGCCAGACTGGTCCCCGGGGGACTTCTTCACAGGGGCTGCTGGCGAGCTCTTTCTCTTTAGGGACTGCTCCATACCCCATGATGGAGCACACGGTGTAGGGAAGCCAGAAAGAAAAGACGGCCCAGCCACAGAAGCACAATGGCCCTTCGCTCTCCCCCAGCCCCACCATGATGCCCCCATGCCTGGGCGTGGGGGAAGATCATTTGCCAAGAGGCAGCTACTGCAAGTCTTTGCGTTCACTTGTACTGTAACAACATAAACCAGCACGCGGTTCCCACCCGGGGCCAACCTCTCCACGCGCACTCAGGAAAGTGACCAGTGACCACTGGCGTTAGGAAGGTGGCTCCAGTAAAGGGTTTTGGCTGCATTTGGGGAATGCTGCATTTTGTTCGTGCCTGTAAGATTGGTTTGTGTCCTGACCAGCTCCAAAAATATACTTCACTGCCCTGAAAAACAGACACAGGGAGAGTTGGTTGTCTCTTCACTTGGCCAAATGTAAGTGAAGAACAGAGTCTTTTTCTTCTTCGGATTCTATTGTTTGCTGGAACCGTACACGTTCCTTGGAAGATCATGTTTAAGTGACTCCTGTTGCCTGAGCACAAAAATGGGCACCAATGGAGGAAAATGACCCTTGGGCTGGCAGGGGCAGTGACCCTTCCAGGGTACCACTGAGGGAAGGGCCTGGGTTCAAGCCTCCCGGAACCTCCCCTTTGGCTAACCGAGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTACCTTCGCCCTCAGGAGATGTGACGAAGGAACAAGGTCTAATTTGTGCGTGTGTGGACTCACTATGGAAATAAAATGCAGTAGAAAGAGCATGTATCACTTCCTCCCTCCTCACACTCTCTCTCTCTCTCACACACACACACACACACAGTGCCCTTATCTTCTTTAGGGCTGTCTTTTCCGAGTGTGCTATCCAGAACTTAGCCATTAAAAAAGAAAGGATGGGGATGGGTGTTAGCATCTGTGGTCCGGTTCTTTCAGAAATGCTGTATATTTCTCTCAGAGATTTTCAATAGACTTTGGCACATTAAAGGCTCTGACATGTCCTGCAGTAGATAAACCTGTTTAAACCAGTATCCCCCCAATCCTATCTGACCTTTTTTTTTTCTTTTTTTCTTTTCATGCAACGCCCATTTAAGTCTCATATAATTAAAGTTCCACAGCACTTGTCAGGTTTTCGGAGACATTATTCATGCCTGGCCACGAGCCCAGTGGTCTTGGGAGGCAGTGTGGTGAAGTGGACCACACACAGCTTGGGAACTAGGACGCAGGCAGCCTTGGTTCTAGTCCTGCTTCCGCTCCTAGTTGCCTTTTCTGCCTCAATTTTATCACCCACAAATTGATCTCTAATGTGCATTTTGGCTCCAAAATTTTACCCAATTTTGGTTTTCTCCTAACATTGTATGTAAATTTCAAACACAGAAAAGTTGAACAGCTACATACCCATCTTGGCTCTATCATTAACGTTTTTCTACCCCAGCTTTCTTACATCCCTATTCATCTATCCACCCCTCTATCCATCCCACCAATCTCATCTTTACGCATGTTTAAATACGTTGTAGAGATCAGCACATTTTACCCCTAAACACTTCATCATTTAGCCCTTGTTTCTGCAGATGAGAAAGTTACAGTCCAGAGAAGTCAG
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Task1_train_5913
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Gene CAV3, OXTR (caveolin 3| oxytocin receptor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Cardiovascular phenotype
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AAGAGATTAAGTCATCTCTGATGAAACCTGCAGCAGAGAAAGCTGGGGGCCAAGATTATACAAGGAAGGTCCTGGGAGGTCAGCTTTTCCATTTCTCCTGCAGCCCAGAGTCTCACCCTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAAAGGGACTAACTAACCAGGAAGATTGAAGTTGGAGCCTCAGCCCTGCAGGCCACCACACAGGCCCCTCCTGTTGATCTGATTAGTCTGTACCTGCATCCACCCCCTTTTAATTTGAATGGCCCAGGAGCACTGCTAGAAAGAAAACATCTCAGAACAGTTTCAGGCATTAGCAAACAGCTCTGCAACCTCCCACTTGGCGGGCTGTACTGGTAACAACCATGGGGAGACCAGTCATGAAGCAGCTAATTTGGTTCACTGCTGTTTAATTGACCAGTGGAATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCCCCGCCTCCCGGGTTTATGCCGTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGACACCCGCTGCCATACCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGGACCAGTGGATTTTACAGCCTCCCATCCTTTCATCCTCATGATACCACTGGAAGACGTTCATTGACTCCATCTTACAGACAAGACAGCTGAGGCTTAGTGATGCTAAGTGACATCACCCATGTGTAGGCAGCTAGGAAGGTGCTTCATGCATAGCAGGGCTCGAGAGAGCTTAGGTAAGCGATGTGAGGAACCTCTGCCTGTTCACCATCCAATCCACAGGTGCTCAGTAAATTGCTGTAGGATGCATACGACCGTCCAACACCCTTCAGATCATAAAACAATAGAATTTGAGAGCTGCGACTATAGCACTGCCACTAAGTCACTGTTGGCTTTAAGCAAGTCGCTCACCTTGAGGGGGTTGAACGAGCGTGTTGTGTTGGTCAGCGGTGCCTAGGAACAGCAGCAGCTTGGGCTCAACAGGGAGCTTGTTAGAAATACAGAGCCTTAGGCCCCACTCCAGACTTGGGGAGTCGGAATCCCTGGGGCGATGATATGGTCTGGATCTGTGTCCCCTCTAAACCTCATGGTGAAACATAATCTCCAATATTGGAGGTGGGGCCGGGTGGGAGGTGATCGGATCACAGAGGCAGATCCCTCGTGGCTTAGTGCTGTCCTCACAATAGTGGGAGAGTTCTCATAAGATCTGGTTGTTGTAAAGTGTGGCACTCCACCCCCTGCCCAGCTCTCTCTCTTGCTCCCACTCTCACCAGGGGAGACGCCTGCTCTCCCTTCTCTAGCCATGGTTGAAAGCTCCCTGCGGCCTCACCTGAAGCCAAGCAGATGCCAGCACCATGATTCCTGCACAGATCACAGACCCATGGGCCAATTAAACCTCCTTTCTTTATCAATTACCCAGCCTCAGGTATGTCTTTAAAGCAATGCAAGAATAGCCTAATACAGGTAGGGTCCAGCCACCAAGGTTAACCTGACCTCTAGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTGAGAAGCGGGTGGCTTCTGTGAGTTGAGGCTTCCCCTTGCCACCCCTGCAGGTGGATTTTGAAGACGTGATCGCAGAGCCTGTGGGCACCTACAGCTTTGACGGCGTGTGGAAGGTGAGCTACACCACCTTCACTGTCTCCAAGTACTGGTGCTACCGTCTGTTGTCCACGCTGCTGGGCGTCCCACTGGCCCTGCTCTGGGGCTTCCTGTTCGCCTGCATCTCCTTCTGCCACATCTGGGCGGTGGTGCCATGCATTAAGAGCTACCTGATCGAGATCCAGTGCATCAGCCACATCTACTCACTCTGCATCCGCACCTTCTGCAACCCACTCTTCGCGGCCCTGGGCCAGGTCTGCAGCAGCATCAAGGTGGTGCTGCGGAAGGAGGTCTAAAGCCAGGTGGGGCAACAGCGGTGGCAGGGCAGGGGGTGGTGGGCCAGACTGGTCCCCGGGGGACTTCTTCACAGGGGCTGCTGGCGAGCTCTTTCTCTTTAGGGACTGCTCCATACCCCATGATGGAGCACACGGTGTAGGGAAGCCAGAAAGAAAAGACGGCCCAGCCACAGAAGCACAATGGCCCTTCGCTCTCCCCCAGCCCCACCATGATGCCCCCATGCCTGGGCGTGGGGGAAGATCATTTGCCAAGAGGCAGCTACTGCAAGTCTTTGCGTTCACTTGTACTGTAACAACATAAACCAGCACGCGGTTCCCACCCGGGGCCAACCTCTCCACGCGCACTCAGGAAAGTGACCAGTGACCACTGGCGTTAGGAAGGTGGCTCCAGTAAAGGGTTTTGGCTGCATTTGGGGAATGCTGCATTTTGTTCGTGCCTGTAAGATTGGTTTGTGTCCTGACCAGCTCCAAAAATATACTTCACTGCCCTGAAAAACAGACACAGGGAGAGTTGGTTGTCTCTTCACTTGGCCAAATGTAAGTGAAGAACAGAGTCTTTTTCTTCTTCGGATTCTATTGTTTGCTGGAACCGTACACGTTCCTTGGAAGATCATGTTTAAGTGACTCCTGTTGCCTGAGCACAAAAATGGGCACCAATGGAGGAAAATGACCCTTGGGCTGGCAGGGGCAGTGACCCTTCCAGGGTACCACTGAGGGAAGGGCCTGGGTTCAAGCCTCCCGGAACCTCCCCTTTGGCTAACCGAGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTACCTTCGCCCTCAGGAGATGTGACGAAGGAACAAGGTCTAATTTGTGCGTGTGTGGACTCACTATGGAAATAAAATGCAGTAGAAAGAGCATGTATCACTTCCTCCCTCCTCACACTCTCTCTCTCTCTCACACACACACACACACACAGTGCCCTTATCTTCTTTAGGGCTGTCTTTTCCGAGTGTGCTATCCAGAACTTAGCCATTAAAAAAGAAAGGATGGGGATGGGTGTTAGCATCTGTGGTCCGGTTCTTTCAGAAATGCTGTATATTTCTCTCAGAGATTTTCAATAGACTTTGGCACATTAAAGGCTCTGACATGTCCTGCAGTAGATAAACCTGTTTAAACCAGTATCCCCCCAATCCTATCTGACCTTTTTTTTTTCTTTTTTTCTTTTCATGCAACGCCCATTTAAGTCTCATATAATTAAAGTTCCACAGCACTTGTCAGGTTTTCGGAGACATTATTCATGCCTGGCCACGAGCCCAGTGGTCTTGGGAGGCAGTGTGGTGAAGTGGACCACACACAGCTTGGGAACTAGGACGCAGGCAGCCTTGGTTCTAGTCCTGCTTCCGCTCCTAGTTGCCTTTTCTGCCTCAATTTTATCACCCACAAATTGATCTCTAATGTGCATTTTGGCTCCAAAATTTTACCCAATTTTGGTTTTCTCCTAACATTGTATGTAAATTTCAAACACAGAAAAGTTGAACAGCTACATACCCATCTTGGCTCTATCATTAACGTTTTTCTACCCCAGCTTTCTTACATCCCTATTCATCTATCCACCCCTCTATCCATCCCACCAATCTCATCTTTACGCATGTTTAAATACGTTGTAGAGATCAGCACATTTTACCCCTAAACACTTCATCATTTAGCCCTTGTTTCTGCAGATGAGAAAGTTACAGTCCAGAGAAGTCAG
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AAGAGATTAAGTCATCTCTGATGAAACCTGCAGCAGAGAAAGCTGGGGGCCAAGATTATACAAGGAAGGTCCTGGGAGGTCAGCTTTTCCATTTCTCCTGCAGCCCAGAGTCTCACCCTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAAAGGGACTAACTAACCAGGAAGATTGAAGTTGGAGCCTCAGCCCTGCAGGCCACCACACAGGCCCCTCCTGTTGATCTGATTAGTCTGTACCTGCATCCACCCCCTTTTAATTTGAATGGCCCAGGAGCACTGCTAGAAAGAAAACATCTCAGAACAGTTTCAGGCATTAGCAAACAGCTCTGCAACCTCCCACTTGGCGGGCTGTACTGGTAACAACCATGGGGAGACCAGTCATGAAGCAGCTAATTTGGTTCACTGCTGTTTAATTGACCAGTGGAATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCCCCGCCTCCCGGGTTTATGCCGTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGACACCCGCTGCCATACCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGGACCAGTGGATTTTACAGCCTCCCATCCTTTCATCCTCATGATACCACTGGAAGACGTTCATTGACTCCATCTTACAGACAAGACAGCTGAGGCTTAGTGATGCTAAGTGACATCACCCATGTGTAGGCAGCTAGGAAGGTGCTTCATGCATAGCAGGGCTCGAGAGAGCTTAGGTAAGCGATGTGAGGAACCTCTGCCTGTTCACCATCCAATCCACAGGTGCTCAGTAAATTGCTGTAGGATGCATACGACCGTCCAACACCCTTCAGATCATAAAACAATAGAATTTGAGAGCTGCGACTATAGCACTGCCACTAAGTCACTGTTGGCTTTAAGCAAGTCGCTCACCTTGAGGGGGTTGAACGAGCGTGTTGTGTTGGTCAGCGGTGCCTAGGAACAGCAGCAGCTTGGGCTCAACAGGGAGCTTGTTAGAAATACAGAGCCTTAGGCCCCACTCCAGACTTGGGGAGTCGGAATCCCTGGGGCGATGATATGGTCTGGATCTGTGTCCCCTCTAAACCTCATGGTGAAACATAATCTCCAATATTGGAGGTGGGGCCGGGTGGGAGGTGATCGGATCACAGAGGCAGATCCCTCGTGGCTTAGTGCTGTCCTCACAATAGTGGGAGAGTTCTCATAAGATCTGGTTGTTGTAAAGTGTGGCACTCCACCCCCTGCCCAGCTCTCTCTCTTGCTCCCACTCTCACCAGGGGAGACGCCTGCTCTCCCTTCTCTAGCCATGGTTGAAAGCTCCCTGCGGCCTCACCTGAAGCCAAGCAGATGCCAGCACCATGATTCCTGCACAGATCACAGACCCATGGGCCAATTAAACCTCCTTTCTTTATCAATTACCCAGCCTCAGGTATGTCTTTAAAGCAATGCAAGAATAGCCTAATACAGGTAGGGTCCAGCCACCAAGGTTAACCTGACCTCTAGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTGAGAAGCGGGTGGCTTCTGTGAGTTGAGGCTTCCCCTTGCCACCCCTGCAGGTGGATTTTGAAGACGTGATCACAGAGCCTGTGGGCACCTACAGCTTTGACGGCGTGTGGAAGGTGAGCTACACCACCTTCACTGTCTCCAAGTACTGGTGCTACCGTCTGTTGTCCACGCTGCTGGGCGTCCCACTGGCCCTGCTCTGGGGCTTCCTGTTCGCCTGCATCTCCTTCTGCCACATCTGGGCGGTGGTGCCATGCATTAAGAGCTACCTGATCGAGATCCAGTGCATCAGCCACATCTACTCACTCTGCATCCGCACCTTCTGCAACCCACTCTTCGCGGCCCTGGGCCAGGTCTGCAGCAGCATCAAGGTGGTGCTGCGGAAGGAGGTCTAAAGCCAGGTGGGGCAACAGCGGTGGCAGGGCAGGGGGTGGTGGGCCAGACTGGTCCCCGGGGGACTTCTTCACAGGGGCTGCTGGCGAGCTCTTTCTCTTTAGGGACTGCTCCATACCCCATGATGGAGCACACGGTGTAGGGAAGCCAGAAAGAAAAGACGGCCCAGCCACAGAAGCACAATGGCCCTTCGCTCTCCCCCAGCCCCACCATGATGCCCCCATGCCTGGGCGTGGGGGAAGATCATTTGCCAAGAGGCAGCTACTGCAAGTCTTTGCGTTCACTTGTACTGTAACAACATAAACCAGCACGCGGTTCCCACCCGGGGCCAACCTCTCCACGCGCACTCAGGAAAGTGACCAGTGACCACTGGCGTTAGGAAGGTGGCTCCAGTAAAGGGTTTTGGCTGCATTTGGGGAATGCTGCATTTTGTTCGTGCCTGTAAGATTGGTTTGTGTCCTGACCAGCTCCAAAAATATACTTCACTGCCCTGAAAAACAGACACAGGGAGAGTTGGTTGTCTCTTCACTTGGCCAAATGTAAGTGAAGAACAGAGTCTTTTTCTTCTTCGGATTCTATTGTTTGCTGGAACCGTACACGTTCCTTGGAAGATCATGTTTAAGTGACTCCTGTTGCCTGAGCACAAAAATGGGCACCAATGGAGGAAAATGACCCTTGGGCTGGCAGGGGCAGTGACCCTTCCAGGGTACCACTGAGGGAAGGGCCTGGGTTCAAGCCTCCCGGAACCTCCCCTTTGGCTAACCGAGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTACCTTCGCCCTCAGGAGATGTGACGAAGGAACAAGGTCTAATTTGTGCGTGTGTGGACTCACTATGGAAATAAAATGCAGTAGAAAGAGCATGTATCACTTCCTCCCTCCTCACACTCTCTCTCTCTCTCACACACACACACACACACAGTGCCCTTATCTTCTTTAGGGCTGTCTTTTCCGAGTGTGCTATCCAGAACTTAGCCATTAAAAAAGAAAGGATGGGGATGGGTGTTAGCATCTGTGGTCCGGTTCTTTCAGAAATGCTGTATATTTCTCTCAGAGATTTTCAATAGACTTTGGCACATTAAAGGCTCTGACATGTCCTGCAGTAGATAAACCTGTTTAAACCAGTATCCCCCCAATCCTATCTGACCTTTTTTTTTTCTTTTTTTCTTTTCATGCAACGCCCATTTAAGTCTCATATAATTAAAGTTCCACAGCACTTGTCAGGTTTTCGGAGACATTATTCATGCCTGGCCACGAGCCCAGTGGTCTTGGGAGGCAGTGTGGTGAAGTGGACCACACACAGCTTGGGAACTAGGACGCAGGCAGCCTTGGTTCTAGTCCTGCTTCCGCTCCTAGTTGCCTTTTCTGCCTCAATTTTATCACCCACAAATTGATCTCTAATGTGCATTTTGGCTCCAAAATTTTACCCAATTTTGGTTTTCTCCTAACATTGTATGTAAATTTCAAACACAGAAAAGTTGAACAGCTACATACCCATCTTGGCTCTATCATTAACGTTTTTCTACCCCAGCTTTCTTACATCCCTATTCATCTATCCACCCCTCTATCCATCCCACCAATCTCATCTTTACGCATGTTTAAATACGTTGTAGAGATCAGCACATTTTACCCCTAAACACTTCATCATTTAGCCCTTGTTTCTGCAGATGAGAAAGTTACAGTCCAGAGAAGTCAG
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Task1_train_5914
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Given a variant located on Chromosome 3 and affecting CAV3, OXTR (caveolin 3| oxytocin receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Myopathy with tubular aggregates
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AAGAGATTAAGTCATCTCTGATGAAACCTGCAGCAGAGAAAGCTGGGGGCCAAGATTATACAAGGAAGGTCCTGGGAGGTCAGCTTTTCCATTTCTCCTGCAGCCCAGAGTCTCACCCTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAAAGGGACTAACTAACCAGGAAGATTGAAGTTGGAGCCTCAGCCCTGCAGGCCACCACACAGGCCCCTCCTGTTGATCTGATTAGTCTGTACCTGCATCCACCCCCTTTTAATTTGAATGGCCCAGGAGCACTGCTAGAAAGAAAACATCTCAGAACAGTTTCAGGCATTAGCAAACAGCTCTGCAACCTCCCACTTGGCGGGCTGTACTGGTAACAACCATGGGGAGACCAGTCATGAAGCAGCTAATTTGGTTCACTGCTGTTTAATTGACCAGTGGAATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCCCCGCCTCCCGGGTTTATGCCGTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGACACCCGCTGCCATACCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGGACCAGTGGATTTTACAGCCTCCCATCCTTTCATCCTCATGATACCACTGGAAGACGTTCATTGACTCCATCTTACAGACAAGACAGCTGAGGCTTAGTGATGCTAAGTGACATCACCCATGTGTAGGCAGCTAGGAAGGTGCTTCATGCATAGCAGGGCTCGAGAGAGCTTAGGTAAGCGATGTGAGGAACCTCTGCCTGTTCACCATCCAATCCACAGGTGCTCAGTAAATTGCTGTAGGATGCATACGACCGTCCAACACCCTTCAGATCATAAAACAATAGAATTTGAGAGCTGCGACTATAGCACTGCCACTAAGTCACTGTTGGCTTTAAGCAAGTCGCTCACCTTGAGGGGGTTGAACGAGCGTGTTGTGTTGGTCAGCGGTGCCTAGGAACAGCAGCAGCTTGGGCTCAACAGGGAGCTTGTTAGAAATACAGAGCCTTAGGCCCCACTCCAGACTTGGGGAGTCGGAATCCCTGGGGCGATGATATGGTCTGGATCTGTGTCCCCTCTAAACCTCATGGTGAAACATAATCTCCAATATTGGAGGTGGGGCCGGGTGGGAGGTGATCGGATCACAGAGGCAGATCCCTCGTGGCTTAGTGCTGTCCTCACAATAGTGGGAGAGTTCTCATAAGATCTGGTTGTTGTAAAGTGTGGCACTCCACCCCCTGCCCAGCTCTCTCTCTTGCTCCCACTCTCACCAGGGGAGACGCCTGCTCTCCCTTCTCTAGCCATGGTTGAAAGCTCCCTGCGGCCTCACCTGAAGCCAAGCAGATGCCAGCACCATGATTCCTGCACAGATCACAGACCCATGGGCCAATTAAACCTCCTTTCTTTATCAATTACCCAGCCTCAGGTATGTCTTTAAAGCAATGCAAGAATAGCCTAATACAGGTAGGGTCCAGCCACCAAGGTTAACCTGACCTCTAGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTGAGAAGCGGGTGGCTTCTGTGAGTTGAGGCTTCCCCTTGCCACCCCTGCAGGTGGATTTTGAAGACGTGATCGCAGAGCCTGTGGGCACCTACAGCTTTGACGGCGTGTGGAAGGTGAGCTACACCACCTTCACTGTCTCCAAGTACTGGTGCTACCGTCTGTTGTCCACGCTGCTGGGCGTCCCACTGGCCCTGCTCTGGGGCTTCCTGTTCGCCTGCATCTCCTTCTGCCACATCTGGGCGGTGGTGCCATGCATTAAGAGCTACCTGATCGAGATCCAGTGCATCAGCCACATCTACTCACTCTGCATCCGCACCTTCTGCAACCCACTCTTCGCGGCCCTGGGCCAGGTCTGCAGCAGCATCAAGGTGGTGCTGCGGAAGGAGGTCTAAAGCCAGGTGGGGCAACAGCGGTGGCAGGGCAGGGGGTGGTGGGCCAGACTGGTCCCCGGGGGACTTCTTCACAGGGGCTGCTGGCGAGCTCTTTCTCTTTAGGGACTGCTCCATACCCCATGATGGAGCACACGGTGTAGGGAAGCCAGAAAGAAAAGACGGCCCAGCCACAGAAGCACAATGGCCCTTCGCTCTCCCCCAGCCCCACCATGATGCCCCCATGCCTGGGCGTGGGGGAAGATCATTTGCCAAGAGGCAGCTACTGCAAGTCTTTGCGTTCACTTGTACTGTAACAACATAAACCAGCACGCGGTTCCCACCCGGGGCCAACCTCTCCACGCGCACTCAGGAAAGTGACCAGTGACCACTGGCGTTAGGAAGGTGGCTCCAGTAAAGGGTTTTGGCTGCATTTGGGGAATGCTGCATTTTGTTCGTGCCTGTAAGATTGGTTTGTGTCCTGACCAGCTCCAAAAATATACTTCACTGCCCTGAAAAACAGACACAGGGAGAGTTGGTTGTCTCTTCACTTGGCCAAATGTAAGTGAAGAACAGAGTCTTTTTCTTCTTCGGATTCTATTGTTTGCTGGAACCGTACACGTTCCTTGGAAGATCATGTTTAAGTGACTCCTGTTGCCTGAGCACAAAAATGGGCACCAATGGAGGAAAATGACCCTTGGGCTGGCAGGGGCAGTGACCCTTCCAGGGTACCACTGAGGGAAGGGCCTGGGTTCAAGCCTCCCGGAACCTCCCCTTTGGCTAACCGAGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTACCTTCGCCCTCAGGAGATGTGACGAAGGAACAAGGTCTAATTTGTGCGTGTGTGGACTCACTATGGAAATAAAATGCAGTAGAAAGAGCATGTATCACTTCCTCCCTCCTCACACTCTCTCTCTCTCTCACACACACACACACACACAGTGCCCTTATCTTCTTTAGGGCTGTCTTTTCCGAGTGTGCTATCCAGAACTTAGCCATTAAAAAAGAAAGGATGGGGATGGGTGTTAGCATCTGTGGTCCGGTTCTTTCAGAAATGCTGTATATTTCTCTCAGAGATTTTCAATAGACTTTGGCACATTAAAGGCTCTGACATGTCCTGCAGTAGATAAACCTGTTTAAACCAGTATCCCCCCAATCCTATCTGACCTTTTTTTTTTCTTTTTTTCTTTTCATGCAACGCCCATTTAAGTCTCATATAATTAAAGTTCCACAGCACTTGTCAGGTTTTCGGAGACATTATTCATGCCTGGCCACGAGCCCAGTGGTCTTGGGAGGCAGTGTGGTGAAGTGGACCACACACAGCTTGGGAACTAGGACGCAGGCAGCCTTGGTTCTAGTCCTGCTTCCGCTCCTAGTTGCCTTTTCTGCCTCAATTTTATCACCCACAAATTGATCTCTAATGTGCATTTTGGCTCCAAAATTTTACCCAATTTTGGTTTTCTCCTAACATTGTATGTAAATTTCAAACACAGAAAAGTTGAACAGCTACATACCCATCTTGGCTCTATCATTAACGTTTTTCTACCCCAGCTTTCTTACATCCCTATTCATCTATCCACCCCTCTATCCATCCCACCAATCTCATCTTTACGCATGTTTAAATACGTTGTAGAGATCAGCACATTTTACCCCTAAACACTTCATCATTTAGCCCTTGTTTCTGCAGATGAGAAAGTTACAGTCCAGAGAAGTCAG
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AAGAGATTAAGTCATCTCTGATGAAACCTGCAGCAGAGAAAGCTGGGGGCCAAGATTATACAAGGAAGGTCCTGGGAGGTCAGCTTTTCCATTTCTCCTGCAGCCCAGAGTCTCACCCTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAAAGGGACTAACTAACCAGGAAGATTGAAGTTGGAGCCTCAGCCCTGCAGGCCACCACACAGGCCCCTCCTGTTGATCTGATTAGTCTGTACCTGCATCCACCCCCTTTTAATTTGAATGGCCCAGGAGCACTGCTAGAAAGAAAACATCTCAGAACAGTTTCAGGCATTAGCAAACAGCTCTGCAACCTCCCACTTGGCGGGCTGTACTGGTAACAACCATGGGGAGACCAGTCATGAAGCAGCTAATTTGGTTCACTGCTGTTTAATTGACCAGTGGAATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCCCCGCCTCCCGGGTTTATGCCGTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGACACCCGCTGCCATACCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGGACCAGTGGATTTTACAGCCTCCCATCCTTTCATCCTCATGATACCACTGGAAGACGTTCATTGACTCCATCTTACAGACAAGACAGCTGAGGCTTAGTGATGCTAAGTGACATCACCCATGTGTAGGCAGCTAGGAAGGTGCTTCATGCATAGCAGGGCTCGAGAGAGCTTAGGTAAGCGATGTGAGGAACCTCTGCCTGTTCACCATCCAATCCACAGGTGCTCAGTAAATTGCTGTAGGATGCATACGACCGTCCAACACCCTTCAGATCATAAAACAATAGAATTTGAGAGCTGCGACTATAGCACTGCCACTAAGTCACTGTTGGCTTTAAGCAAGTCGCTCACCTTGAGGGGGTTGAACGAGCGTGTTGTGTTGGTCAGCGGTGCCTAGGAACAGCAGCAGCTTGGGCTCAACAGGGAGCTTGTTAGAAATACAGAGCCTTAGGCCCCACTCCAGACTTGGGGAGTCGGAATCCCTGGGGCGATGATATGGTCTGGATCTGTGTCCCCTCTAAACCTCATGGTGAAACATAATCTCCAATATTGGAGGTGGGGCCGGGTGGGAGGTGATCGGATCACAGAGGCAGATCCCTCGTGGCTTAGTGCTGTCCTCACAATAGTGGGAGAGTTCTCATAAGATCTGGTTGTTGTAAAGTGTGGCACTCCACCCCCTGCCCAGCTCTCTCTCTTGCTCCCACTCTCACCAGGGGAGACGCCTGCTCTCCCTTCTCTAGCCATGGTTGAAAGCTCCCTGCGGCCTCACCTGAAGCCAAGCAGATGCCAGCACCATGATTCCTGCACAGATCACAGACCCATGGGCCAATTAAACCTCCTTTCTTTATCAATTACCCAGCCTCAGGTATGTCTTTAAAGCAATGCAAGAATAGCCTAATACAGGTAGGGTCCAGCCACCAAGGTTAACCTGACCTCTAGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTGAGAAGCGGGTGGCTTCTGTGAGTTGAGGCTTCCCCTTGCCACCCCTGCAGGTGGATTTTGAAGACGTGATCACAGAGCCTGTGGGCACCTACAGCTTTGACGGCGTGTGGAAGGTGAGCTACACCACCTTCACTGTCTCCAAGTACTGGTGCTACCGTCTGTTGTCCACGCTGCTGGGCGTCCCACTGGCCCTGCTCTGGGGCTTCCTGTTCGCCTGCATCTCCTTCTGCCACATCTGGGCGGTGGTGCCATGCATTAAGAGCTACCTGATCGAGATCCAGTGCATCAGCCACATCTACTCACTCTGCATCCGCACCTTCTGCAACCCACTCTTCGCGGCCCTGGGCCAGGTCTGCAGCAGCATCAAGGTGGTGCTGCGGAAGGAGGTCTAAAGCCAGGTGGGGCAACAGCGGTGGCAGGGCAGGGGGTGGTGGGCCAGACTGGTCCCCGGGGGACTTCTTCACAGGGGCTGCTGGCGAGCTCTTTCTCTTTAGGGACTGCTCCATACCCCATGATGGAGCACACGGTGTAGGGAAGCCAGAAAGAAAAGACGGCCCAGCCACAGAAGCACAATGGCCCTTCGCTCTCCCCCAGCCCCACCATGATGCCCCCATGCCTGGGCGTGGGGGAAGATCATTTGCCAAGAGGCAGCTACTGCAAGTCTTTGCGTTCACTTGTACTGTAACAACATAAACCAGCACGCGGTTCCCACCCGGGGCCAACCTCTCCACGCGCACTCAGGAAAGTGACCAGTGACCACTGGCGTTAGGAAGGTGGCTCCAGTAAAGGGTTTTGGCTGCATTTGGGGAATGCTGCATTTTGTTCGTGCCTGTAAGATTGGTTTGTGTCCTGACCAGCTCCAAAAATATACTTCACTGCCCTGAAAAACAGACACAGGGAGAGTTGGTTGTCTCTTCACTTGGCCAAATGTAAGTGAAGAACAGAGTCTTTTTCTTCTTCGGATTCTATTGTTTGCTGGAACCGTACACGTTCCTTGGAAGATCATGTTTAAGTGACTCCTGTTGCCTGAGCACAAAAATGGGCACCAATGGAGGAAAATGACCCTTGGGCTGGCAGGGGCAGTGACCCTTCCAGGGTACCACTGAGGGAAGGGCCTGGGTTCAAGCCTCCCGGAACCTCCCCTTTGGCTAACCGAGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTACCTTCGCCCTCAGGAGATGTGACGAAGGAACAAGGTCTAATTTGTGCGTGTGTGGACTCACTATGGAAATAAAATGCAGTAGAAAGAGCATGTATCACTTCCTCCCTCCTCACACTCTCTCTCTCTCTCACACACACACACACACACAGTGCCCTTATCTTCTTTAGGGCTGTCTTTTCCGAGTGTGCTATCCAGAACTTAGCCATTAAAAAAGAAAGGATGGGGATGGGTGTTAGCATCTGTGGTCCGGTTCTTTCAGAAATGCTGTATATTTCTCTCAGAGATTTTCAATAGACTTTGGCACATTAAAGGCTCTGACATGTCCTGCAGTAGATAAACCTGTTTAAACCAGTATCCCCCCAATCCTATCTGACCTTTTTTTTTTCTTTTTTTCTTTTCATGCAACGCCCATTTAAGTCTCATATAATTAAAGTTCCACAGCACTTGTCAGGTTTTCGGAGACATTATTCATGCCTGGCCACGAGCCCAGTGGTCTTGGGAGGCAGTGTGGTGAAGTGGACCACACACAGCTTGGGAACTAGGACGCAGGCAGCCTTGGTTCTAGTCCTGCTTCCGCTCCTAGTTGCCTTTTCTGCCTCAATTTTATCACCCACAAATTGATCTCTAATGTGCATTTTGGCTCCAAAATTTTACCCAATTTTGGTTTTCTCCTAACATTGTATGTAAATTTCAAACACAGAAAAGTTGAACAGCTACATACCCATCTTGGCTCTATCATTAACGTTTTTCTACCCCAGCTTTCTTACATCCCTATTCATCTATCCACCCCTCTATCCATCCCACCAATCTCATCTTTACGCATGTTTAAATACGTTGTAGAGATCAGCACATTTTACCCCTAAACACTTCATCATTTAGCCCTTGTTTCTGCAGATGAGAAAGTTACAGTCCAGAGAAGTCAG
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Task1_train_5915
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Gene OXTR, CAV3 (oxytocin receptor| caveolin 3) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Long QT syndrome 9
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CTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAAAGGGACTAACTAACCAGGAAGATTGAAGTTGGAGCCTCAGCCCTGCAGGCCACCACACAGGCCCCTCCTGTTGATCTGATTAGTCTGTACCTGCATCCACCCCCTTTTAATTTGAATGGCCCAGGAGCACTGCTAGAAAGAAAACATCTCAGAACAGTTTCAGGCATTAGCAAACAGCTCTGCAACCTCCCACTTGGCGGGCTGTACTGGTAACAACCATGGGGAGACCAGTCATGAAGCAGCTAATTTGGTTCACTGCTGTTTAATTGACCAGTGGAATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCCCCGCCTCCCGGGTTTATGCCGTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGACACCCGCTGCCATACCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGGACCAGTGGATTTTACAGCCTCCCATCCTTTCATCCTCATGATACCACTGGAAGACGTTCATTGACTCCATCTTACAGACAAGACAGCTGAGGCTTAGTGATGCTAAGTGACATCACCCATGTGTAGGCAGCTAGGAAGGTGCTTCATGCATAGCAGGGCTCGAGAGAGCTTAGGTAAGCGATGTGAGGAACCTCTGCCTGTTCACCATCCAATCCACAGGTGCTCAGTAAATTGCTGTAGGATGCATACGACCGTCCAACACCCTTCAGATCATAAAACAATAGAATTTGAGAGCTGCGACTATAGCACTGCCACTAAGTCACTGTTGGCTTTAAGCAAGTCGCTCACCTTGAGGGGGTTGAACGAGCGTGTTGTGTTGGTCAGCGGTGCCTAGGAACAGCAGCAGCTTGGGCTCAACAGGGAGCTTGTTAGAAATACAGAGCCTTAGGCCCCACTCCAGACTTGGGGAGTCGGAATCCCTGGGGCGATGATATGGTCTGGATCTGTGTCCCCTCTAAACCTCATGGTGAAACATAATCTCCAATATTGGAGGTGGGGCCGGGTGGGAGGTGATCGGATCACAGAGGCAGATCCCTCGTGGCTTAGTGCTGTCCTCACAATAGTGGGAGAGTTCTCATAAGATCTGGTTGTTGTAAAGTGTGGCACTCCACCCCCTGCCCAGCTCTCTCTCTTGCTCCCACTCTCACCAGGGGAGACGCCTGCTCTCCCTTCTCTAGCCATGGTTGAAAGCTCCCTGCGGCCTCACCTGAAGCCAAGCAGATGCCAGCACCATGATTCCTGCACAGATCACAGACCCATGGGCCAATTAAACCTCCTTTCTTTATCAATTACCCAGCCTCAGGTATGTCTTTAAAGCAATGCAAGAATAGCCTAATACAGGTAGGGTCCAGCCACCAAGGTTAACCTGACCTCTAGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTGAGAAGCGGGTGGCTTCTGTGAGTTGAGGCTTCCCCTTGCCACCCCTGCAGGTGGATTTTGAAGACGTGATCGCAGAGCCTGTGGGCACCTACAGCTTTGACGGCGTGTGGAAGGTGAGCTACACCACCTTCACTGTCTCCAAGTACTGGTGCTACCGTCTGTTGTCCACGCTGCTGGGCGTCCCACTGGCCCTGCTCTGGGGCTTCCTGTTCGCCTGCATCTCCTTCTGCCACATCTGGGCGGTGGTGCCATGCATTAAGAGCTACCTGATCGAGATCCAGTGCATCAGCCACATCTACTCACTCTGCATCCGCACCTTCTGCAACCCACTCTTCGCGGCCCTGGGCCAGGTCTGCAGCAGCATCAAGGTGGTGCTGCGGAAGGAGGTCTAAAGCCAGGTGGGGCAACAGCGGTGGCAGGGCAGGGGGTGGTGGGCCAGACTGGTCCCCGGGGGACTTCTTCACAGGGGCTGCTGGCGAGCTCTTTCTCTTTAGGGACTGCTCCATACCCCATGATGGAGCACACGGTGTAGGGAAGCCAGAAAGAAAAGACGGCCCAGCCACAGAAGCACAATGGCCCTTCGCTCTCCCCCAGCCCCACCATGATGCCCCCATGCCTGGGCGTGGGGGAAGATCATTTGCCAAGAGGCAGCTACTGCAAGTCTTTGCGTTCACTTGTACTGTAACAACATAAACCAGCACGCGGTTCCCACCCGGGGCCAACCTCTCCACGCGCACTCAGGAAAGTGACCAGTGACCACTGGCGTTAGGAAGGTGGCTCCAGTAAAGGGTTTTGGCTGCATTTGGGGAATGCTGCATTTTGTTCGTGCCTGTAAGATTGGTTTGTGTCCTGACCAGCTCCAAAAATATACTTCACTGCCCTGAAAAACAGACACAGGGAGAGTTGGTTGTCTCTTCACTTGGCCAAATGTAAGTGAAGAACAGAGTCTTTTTCTTCTTCGGATTCTATTGTTTGCTGGAACCGTACACGTTCCTTGGAAGATCATGTTTAAGTGACTCCTGTTGCCTGAGCACAAAAATGGGCACCAATGGAGGAAAATGACCCTTGGGCTGGCAGGGGCAGTGACCCTTCCAGGGTACCACTGAGGGAAGGGCCTGGGTTCAAGCCTCCCGGAACCTCCCCTTTGGCTAACCGAGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTACCTTCGCCCTCAGGAGATGTGACGAAGGAACAAGGTCTAATTTGTGCGTGTGTGGACTCACTATGGAAATAAAATGCAGTAGAAAGAGCATGTATCACTTCCTCCCTCCTCACACTCTCTCTCTCTCTCACACACACACACACACACAGTGCCCTTATCTTCTTTAGGGCTGTCTTTTCCGAGTGTGCTATCCAGAACTTAGCCATTAAAAAAGAAAGGATGGGGATGGGTGTTAGCATCTGTGGTCCGGTTCTTTCAGAAATGCTGTATATTTCTCTCAGAGATTTTCAATAGACTTTGGCACATTAAAGGCTCTGACATGTCCTGCAGTAGATAAACCTGTTTAAACCAGTATCCCCCCAATCCTATCTGACCTTTTTTTTTTCTTTTTTTCTTTTCATGCAACGCCCATTTAAGTCTCATATAATTAAAGTTCCACAGCACTTGTCAGGTTTTCGGAGACATTATTCATGCCTGGCCACGAGCCCAGTGGTCTTGGGAGGCAGTGTGGTGAAGTGGACCACACACAGCTTGGGAACTAGGACGCAGGCAGCCTTGGTTCTAGTCCTGCTTCCGCTCCTAGTTGCCTTTTCTGCCTCAATTTTATCACCCACAAATTGATCTCTAATGTGCATTTTGGCTCCAAAATTTTACCCAATTTTGGTTTTCTCCTAACATTGTATGTAAATTTCAAACACAGAAAAGTTGAACAGCTACATACCCATCTTGGCTCTATCATTAACGTTTTTCTACCCCAGCTTTCTTACATCCCTATTCATCTATCCACCCCTCTATCCATCCCACCAATCTCATCTTTACGCATGTTTAAATACGTTGTAGAGATCAGCACATTTTACCCCTAAACACTTCATCATTTAGCCCTTGTTTCTGCAGATGAGAAAGTTACAGTCCAGAGAAGTCAGGAACCTTGCCAAAAGGCACCCACCTAGCCAGCACTATCACTGTGGCTCCAGCCTGCTGCCTGTGCTCTCCCTTGGGGCTCTTCCACATTGTCGGGGGGCTCAGCAGGCCCAGGCTCC
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CTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAAAGGGACTAACTAACCAGGAAGATTGAAGTTGGAGCCTCAGCCCTGCAGGCCACCACACAGGCCCCTCCTGTTGATCTGATTAGTCTGTACCTGCATCCACCCCCTTTTAATTTGAATGGCCCAGGAGCACTGCTAGAAAGAAAACATCTCAGAACAGTTTCAGGCATTAGCAAACAGCTCTGCAACCTCCCACTTGGCGGGCTGTACTGGTAACAACCATGGGGAGACCAGTCATGAAGCAGCTAATTTGGTTCACTGCTGTTTAATTGACCAGTGGAATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCCCCGCCTCCCGGGTTTATGCCGTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGACACCCGCTGCCATACCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGGACCAGTGGATTTTACAGCCTCCCATCCTTTCATCCTCATGATACCACTGGAAGACGTTCATTGACTCCATCTTACAGACAAGACAGCTGAGGCTTAGTGATGCTAAGTGACATCACCCATGTGTAGGCAGCTAGGAAGGTGCTTCATGCATAGCAGGGCTCGAGAGAGCTTAGGTAAGCGATGTGAGGAACCTCTGCCTGTTCACCATCCAATCCACAGGTGCTCAGTAAATTGCTGTAGGATGCATACGACCGTCCAACACCCTTCAGATCATAAAACAATAGAATTTGAGAGCTGCGACTATAGCACTGCCACTAAGTCACTGTTGGCTTTAAGCAAGTCGCTCACCTTGAGGGGGTTGAACGAGCGTGTTGTGTTGGTCAGCGGTGCCTAGGAACAGCAGCAGCTTGGGCTCAACAGGGAGCTTGTTAGAAATACAGAGCCTTAGGCCCCACTCCAGACTTGGGGAGTCGGAATCCCTGGGGCGATGATATGGTCTGGATCTGTGTCCCCTCTAAACCTCATGGTGAAACATAATCTCCAATATTGGAGGTGGGGCCGGGTGGGAGGTGATCGGATCACAGAGGCAGATCCCTCGTGGCTTAGTGCTGTCCTCACAATAGTGGGAGAGTTCTCATAAGATCTGGTTGTTGTAAAGTGTGGCACTCCACCCCCTGCCCAGCTCTCTCTCTTGCTCCCACTCTCACCAGGGGAGACGCCTGCTCTCCCTTCTCTAGCCATGGTTGAAAGCTCCCTGCGGCCTCACCTGAAGCCAAGCAGATGCCAGCACCATGATTCCTGCACAGATCACAGACCCATGGGCCAATTAAACCTCCTTTCTTTATCAATTACCCAGCCTCAGGTATGTCTTTAAAGCAATGCAAGAATAGCCTAATACAGGTAGGGTCCAGCCACCAAGGTTAACCTGACCTCTAGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTGAGAAGCGGGTGGCTTCTGTGAGTTGAGGCTTCCCCTTGCCACCCCTGCAGGTGGATTTTGAAGACGTGATCGCAGAGCCTGTGGGCACCTACAGCTTTGACGGCGTGTGGAAGGTGAGCTACACCACCTTCACTGTCTCCAAGTACTGGTGCTACCGTCTGTTGTCCACGCTGCTGGGCGTCCCACTGACCCTGCTCTGGGGCTTCCTGTTCGCCTGCATCTCCTTCTGCCACATCTGGGCGGTGGTGCCATGCATTAAGAGCTACCTGATCGAGATCCAGTGCATCAGCCACATCTACTCACTCTGCATCCGCACCTTCTGCAACCCACTCTTCGCGGCCCTGGGCCAGGTCTGCAGCAGCATCAAGGTGGTGCTGCGGAAGGAGGTCTAAAGCCAGGTGGGGCAACAGCGGTGGCAGGGCAGGGGGTGGTGGGCCAGACTGGTCCCCGGGGGACTTCTTCACAGGGGCTGCTGGCGAGCTCTTTCTCTTTAGGGACTGCTCCATACCCCATGATGGAGCACACGGTGTAGGGAAGCCAGAAAGAAAAGACGGCCCAGCCACAGAAGCACAATGGCCCTTCGCTCTCCCCCAGCCCCACCATGATGCCCCCATGCCTGGGCGTGGGGGAAGATCATTTGCCAAGAGGCAGCTACTGCAAGTCTTTGCGTTCACTTGTACTGTAACAACATAAACCAGCACGCGGTTCCCACCCGGGGCCAACCTCTCCACGCGCACTCAGGAAAGTGACCAGTGACCACTGGCGTTAGGAAGGTGGCTCCAGTAAAGGGTTTTGGCTGCATTTGGGGAATGCTGCATTTTGTTCGTGCCTGTAAGATTGGTTTGTGTCCTGACCAGCTCCAAAAATATACTTCACTGCCCTGAAAAACAGACACAGGGAGAGTTGGTTGTCTCTTCACTTGGCCAAATGTAAGTGAAGAACAGAGTCTTTTTCTTCTTCGGATTCTATTGTTTGCTGGAACCGTACACGTTCCTTGGAAGATCATGTTTAAGTGACTCCTGTTGCCTGAGCACAAAAATGGGCACCAATGGAGGAAAATGACCCTTGGGCTGGCAGGGGCAGTGACCCTTCCAGGGTACCACTGAGGGAAGGGCCTGGGTTCAAGCCTCCCGGAACCTCCCCTTTGGCTAACCGAGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTACCTTCGCCCTCAGGAGATGTGACGAAGGAACAAGGTCTAATTTGTGCGTGTGTGGACTCACTATGGAAATAAAATGCAGTAGAAAGAGCATGTATCACTTCCTCCCTCCTCACACTCTCTCTCTCTCTCACACACACACACACACACAGTGCCCTTATCTTCTTTAGGGCTGTCTTTTCCGAGTGTGCTATCCAGAACTTAGCCATTAAAAAAGAAAGGATGGGGATGGGTGTTAGCATCTGTGGTCCGGTTCTTTCAGAAATGCTGTATATTTCTCTCAGAGATTTTCAATAGACTTTGGCACATTAAAGGCTCTGACATGTCCTGCAGTAGATAAACCTGTTTAAACCAGTATCCCCCCAATCCTATCTGACCTTTTTTTTTTCTTTTTTTCTTTTCATGCAACGCCCATTTAAGTCTCATATAATTAAAGTTCCACAGCACTTGTCAGGTTTTCGGAGACATTATTCATGCCTGGCCACGAGCCCAGTGGTCTTGGGAGGCAGTGTGGTGAAGTGGACCACACACAGCTTGGGAACTAGGACGCAGGCAGCCTTGGTTCTAGTCCTGCTTCCGCTCCTAGTTGCCTTTTCTGCCTCAATTTTATCACCCACAAATTGATCTCTAATGTGCATTTTGGCTCCAAAATTTTACCCAATTTTGGTTTTCTCCTAACATTGTATGTAAATTTCAAACACAGAAAAGTTGAACAGCTACATACCCATCTTGGCTCTATCATTAACGTTTTTCTACCCCAGCTTTCTTACATCCCTATTCATCTATCCACCCCTCTATCCATCCCACCAATCTCATCTTTACGCATGTTTAAATACGTTGTAGAGATCAGCACATTTTACCCCTAAACACTTCATCATTTAGCCCTTGTTTCTGCAGATGAGAAAGTTACAGTCCAGAGAAGTCAGGAACCTTGCCAAAAGGCACCCACCTAGCCAGCACTATCACTGTGGCTCCAGCCTGCTGCCTGTGCTCTCCCTTGGGGCTCTTCCACATTGTCGGGGGGCTCAGCAGGCCCAGGCTCC
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Task1_train_5916
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Here is a mutation in CAV3, OXTR (caveolin 3| oxytocin receptor) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Long QT syndrome
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CAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAAAGGGACTAACTAACCAGGAAGATTGAAGTTGGAGCCTCAGCCCTGCAGGCCACCACACAGGCCCCTCCTGTTGATCTGATTAGTCTGTACCTGCATCCACCCCCTTTTAATTTGAATGGCCCAGGAGCACTGCTAGAAAGAAAACATCTCAGAACAGTTTCAGGCATTAGCAAACAGCTCTGCAACCTCCCACTTGGCGGGCTGTACTGGTAACAACCATGGGGAGACCAGTCATGAAGCAGCTAATTTGGTTCACTGCTGTTTAATTGACCAGTGGAATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCCCCGCCTCCCGGGTTTATGCCGTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGACACCCGCTGCCATACCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGGACCAGTGGATTTTACAGCCTCCCATCCTTTCATCCTCATGATACCACTGGAAGACGTTCATTGACTCCATCTTACAGACAAGACAGCTGAGGCTTAGTGATGCTAAGTGACATCACCCATGTGTAGGCAGCTAGGAAGGTGCTTCATGCATAGCAGGGCTCGAGAGAGCTTAGGTAAGCGATGTGAGGAACCTCTGCCTGTTCACCATCCAATCCACAGGTGCTCAGTAAATTGCTGTAGGATGCATACGACCGTCCAACACCCTTCAGATCATAAAACAATAGAATTTGAGAGCTGCGACTATAGCACTGCCACTAAGTCACTGTTGGCTTTAAGCAAGTCGCTCACCTTGAGGGGGTTGAACGAGCGTGTTGTGTTGGTCAGCGGTGCCTAGGAACAGCAGCAGCTTGGGCTCAACAGGGAGCTTGTTAGAAATACAGAGCCTTAGGCCCCACTCCAGACTTGGGGAGTCGGAATCCCTGGGGCGATGATATGGTCTGGATCTGTGTCCCCTCTAAACCTCATGGTGAAACATAATCTCCAATATTGGAGGTGGGGCCGGGTGGGAGGTGATCGGATCACAGAGGCAGATCCCTCGTGGCTTAGTGCTGTCCTCACAATAGTGGGAGAGTTCTCATAAGATCTGGTTGTTGTAAAGTGTGGCACTCCACCCCCTGCCCAGCTCTCTCTCTTGCTCCCACTCTCACCAGGGGAGACGCCTGCTCTCCCTTCTCTAGCCATGGTTGAAAGCTCCCTGCGGCCTCACCTGAAGCCAAGCAGATGCCAGCACCATGATTCCTGCACAGATCACAGACCCATGGGCCAATTAAACCTCCTTTCTTTATCAATTACCCAGCCTCAGGTATGTCTTTAAAGCAATGCAAGAATAGCCTAATACAGGTAGGGTCCAGCCACCAAGGTTAACCTGACCTCTAGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTGAGAAGCGGGTGGCTTCTGTGAGTTGAGGCTTCCCCTTGCCACCCCTGCAGGTGGATTTTGAAGACGTGATCGCAGAGCCTGTGGGCACCTACAGCTTTGACGGCGTGTGGAAGGTGAGCTACACCACCTTCACTGTCTCCAAGTACTGGTGCTACCGTCTGTTGTCCACGCTGCTGGGCGTCCCACTGGCCCTGCTCTGGGGCTTCCTGTTCGCCTGCATCTCCTTCTGCCACATCTGGGCGGTGGTGCCATGCATTAAGAGCTACCTGATCGAGATCCAGTGCATCAGCCACATCTACTCACTCTGCATCCGCACCTTCTGCAACCCACTCTTCGCGGCCCTGGGCCAGGTCTGCAGCAGCATCAAGGTGGTGCTGCGGAAGGAGGTCTAAAGCCAGGTGGGGCAACAGCGGTGGCAGGGCAGGGGGTGGTGGGCCAGACTGGTCCCCGGGGGACTTCTTCACAGGGGCTGCTGGCGAGCTCTTTCTCTTTAGGGACTGCTCCATACCCCATGATGGAGCACACGGTGTAGGGAAGCCAGAAAGAAAAGACGGCCCAGCCACAGAAGCACAATGGCCCTTCGCTCTCCCCCAGCCCCACCATGATGCCCCCATGCCTGGGCGTGGGGGAAGATCATTTGCCAAGAGGCAGCTACTGCAAGTCTTTGCGTTCACTTGTACTGTAACAACATAAACCAGCACGCGGTTCCCACCCGGGGCCAACCTCTCCACGCGCACTCAGGAAAGTGACCAGTGACCACTGGCGTTAGGAAGGTGGCTCCAGTAAAGGGTTTTGGCTGCATTTGGGGAATGCTGCATTTTGTTCGTGCCTGTAAGATTGGTTTGTGTCCTGACCAGCTCCAAAAATATACTTCACTGCCCTGAAAAACAGACACAGGGAGAGTTGGTTGTCTCTTCACTTGGCCAAATGTAAGTGAAGAACAGAGTCTTTTTCTTCTTCGGATTCTATTGTTTGCTGGAACCGTACACGTTCCTTGGAAGATCATGTTTAAGTGACTCCTGTTGCCTGAGCACAAAAATGGGCACCAATGGAGGAAAATGACCCTTGGGCTGGCAGGGGCAGTGACCCTTCCAGGGTACCACTGAGGGAAGGGCCTGGGTTCAAGCCTCCCGGAACCTCCCCTTTGGCTAACCGAGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTACCTTCGCCCTCAGGAGATGTGACGAAGGAACAAGGTCTAATTTGTGCGTGTGTGGACTCACTATGGAAATAAAATGCAGTAGAAAGAGCATGTATCACTTCCTCCCTCCTCACACTCTCTCTCTCTCTCACACACACACACACACACAGTGCCCTTATCTTCTTTAGGGCTGTCTTTTCCGAGTGTGCTATCCAGAACTTAGCCATTAAAAAAGAAAGGATGGGGATGGGTGTTAGCATCTGTGGTCCGGTTCTTTCAGAAATGCTGTATATTTCTCTCAGAGATTTTCAATAGACTTTGGCACATTAAAGGCTCTGACATGTCCTGCAGTAGATAAACCTGTTTAAACCAGTATCCCCCCAATCCTATCTGACCTTTTTTTTTTCTTTTTTTCTTTTCATGCAACGCCCATTTAAGTCTCATATAATTAAAGTTCCACAGCACTTGTCAGGTTTTCGGAGACATTATTCATGCCTGGCCACGAGCCCAGTGGTCTTGGGAGGCAGTGTGGTGAAGTGGACCACACACAGCTTGGGAACTAGGACGCAGGCAGCCTTGGTTCTAGTCCTGCTTCCGCTCCTAGTTGCCTTTTCTGCCTCAATTTTATCACCCACAAATTGATCTCTAATGTGCATTTTGGCTCCAAAATTTTACCCAATTTTGGTTTTCTCCTAACATTGTATGTAAATTTCAAACACAGAAAAGTTGAACAGCTACATACCCATCTTGGCTCTATCATTAACGTTTTTCTACCCCAGCTTTCTTACATCCCTATTCATCTATCCACCCCTCTATCCATCCCACCAATCTCATCTTTACGCATGTTTAAATACGTTGTAGAGATCAGCACATTTTACCCCTAAACACTTCATCATTTAGCCCTTGTTTCTGCAGATGAGAAAGTTACAGTCCAGAGAAGTCAGGAACCTTGCCAAAAGGCACCCACCTAGCCAGCACTATCACTGTGGCTCCAGCCTGCTGCCTGTGCTCTCCCTTGGGGCTCTTCCACATTGTCGGGGGGCTCAGCAGGCCCAGGCTCCTCCCTGCTGAAAAGGACTAAGGCTGATGTTACTTATGTCCTCCTCAAAGGGCCTGCCCTTT
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CAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAAAAGAGGGCCCAACACTGTCTGAGCAACATGGTTCTAGTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAAAGGGACTAACTAACCAGGAAGATTGAAGTTGGAGCCTCAGCCCTGCAGGCCACCACACAGGCCCCTCCTGTTGATCTGATTAGTCTGTACCTGCATCCACCCCCTTTTAATTTGAATGGCCCAGGAGCACTGCTAGAAAGAAAACATCTCAGAACAGTTTCAGGCATTAGCAAACAGCTCTGCAACCTCCCACTTGGCGGGCTGTACTGGTAACAACCATGGGGAGACCAGTCATGAAGCAGCTAATTTGGTTCACTGCTGTTTAATTGACCAGTGGAATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCCCCGCCTCCCGGGTTTATGCCGTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGACACCCGCTGCCATACCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGGACCAGTGGATTTTACAGCCTCCCATCCTTTCATCCTCATGATACCACTGGAAGACGTTCATTGACTCCATCTTACAGACAAGACAGCTGAGGCTTAGTGATGCTAAGTGACATCACCCATGTGTAGGCAGCTAGGAAGGTGCTTCATGCATAGCAGGGCTCGAGAGAGCTTAGGTAAGCGATGTGAGGAACCTCTGCCTGTTCACCATCCAATCCACAGGTGCTCAGTAAATTGCTGTAGGATGCATACGACCGTCCAACACCCTTCAGATCATAAAACAATAGAATTTGAGAGCTGCGACTATAGCACTGCCACTAAGTCACTGTTGGCTTTAAGCAAGTCGCTCACCTTGAGGGGGTTGAACGAGCGTGTTGTGTTGGTCAGCGGTGCCTAGGAACAGCAGCAGCTTGGGCTCAACAGGGAGCTTGTTAGAAATACAGAGCCTTAGGCCCCACTCCAGACTTGGGGAGTCGGAATCCCTGGGGCGATGATATGGTCTGGATCTGTGTCCCCTCTAAACCTCATGGTGAAACATAATCTCCAATATTGGAGGTGGGGCCGGGTGGGAGGTGATCGGATCACAGAGGCAGATCCCTCGTGGCTTAGTGCTGTCCTCACAATAGTGGGAGAGTTCTCATAAGATCTGGTTGTTGTAAAGTGTGGCACTCCACCCCCTGCCCAGCTCTCTCTCTTGCTCCCACTCTCACCAGGGGAGACGCCTGCTCTCCCTTCTCTAGCCATGGTTGAAAGCTCCCTGCGGCCTCACCTGAAGCCAAGCAGATGCCAGCACCATGATTCCTGCACAGATCACAGACCCATGGGCCAATTAAACCTCCTTTCTTTATCAATTACCCAGCCTCAGGTATGTCTTTAAAGCAATGCAAGAATAGCCTAATACAGGTAGGGTCCAGCCACCAAGGTTAACCTGACCTCTAGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTGAGAAGCGGGTGGCTTCTGTGAGTTGAGGCTTCCCCTTGCCACCCCTGCAGGTGGATTTTGAAGACGTGATCGCAGAGCCTGTGGGCACCTACAGCTTTGACGGCGTGTGGAAGGTGAGCTACACCACCTTCACTGTCTCCAAGTACTGGTGCTACCGTCTGTTGTCCACGCTGCTGGGCGTCCCACTGGCCCTGCTCTGGGGCTTCCTGTTCGCCTGCATCTCCTTCTGCCACATCTGGGCGGTGGTGCTATGCATTAAGAGCTACCTGATCGAGATCCAGTGCATCAGCCACATCTACTCACTCTGCATCCGCACCTTCTGCAACCCACTCTTCGCGGCCCTGGGCCAGGTCTGCAGCAGCATCAAGGTGGTGCTGCGGAAGGAGGTCTAAAGCCAGGTGGGGCAACAGCGGTGGCAGGGCAGGGGGTGGTGGGCCAGACTGGTCCCCGGGGGACTTCTTCACAGGGGCTGCTGGCGAGCTCTTTCTCTTTAGGGACTGCTCCATACCCCATGATGGAGCACACGGTGTAGGGAAGCCAGAAAGAAAAGACGGCCCAGCCACAGAAGCACAATGGCCCTTCGCTCTCCCCCAGCCCCACCATGATGCCCCCATGCCTGGGCGTGGGGGAAGATCATTTGCCAAGAGGCAGCTACTGCAAGTCTTTGCGTTCACTTGTACTGTAACAACATAAACCAGCACGCGGTTCCCACCCGGGGCCAACCTCTCCACGCGCACTCAGGAAAGTGACCAGTGACCACTGGCGTTAGGAAGGTGGCTCCAGTAAAGGGTTTTGGCTGCATTTGGGGAATGCTGCATTTTGTTCGTGCCTGTAAGATTGGTTTGTGTCCTGACCAGCTCCAAAAATATACTTCACTGCCCTGAAAAACAGACACAGGGAGAGTTGGTTGTCTCTTCACTTGGCCAAATGTAAGTGAAGAACAGAGTCTTTTTCTTCTTCGGATTCTATTGTTTGCTGGAACCGTACACGTTCCTTGGAAGATCATGTTTAAGTGACTCCTGTTGCCTGAGCACAAAAATGGGCACCAATGGAGGAAAATGACCCTTGGGCTGGCAGGGGCAGTGACCCTTCCAGGGTACCACTGAGGGAAGGGCCTGGGTTCAAGCCTCCCGGAACCTCCCCTTTGGCTAACCGAGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTACCTTCGCCCTCAGGAGATGTGACGAAGGAACAAGGTCTAATTTGTGCGTGTGTGGACTCACTATGGAAATAAAATGCAGTAGAAAGAGCATGTATCACTTCCTCCCTCCTCACACTCTCTCTCTCTCTCACACACACACACACACACAGTGCCCTTATCTTCTTTAGGGCTGTCTTTTCCGAGTGTGCTATCCAGAACTTAGCCATTAAAAAAGAAAGGATGGGGATGGGTGTTAGCATCTGTGGTCCGGTTCTTTCAGAAATGCTGTATATTTCTCTCAGAGATTTTCAATAGACTTTGGCACATTAAAGGCTCTGACATGTCCTGCAGTAGATAAACCTGTTTAAACCAGTATCCCCCCAATCCTATCTGACCTTTTTTTTTTCTTTTTTTCTTTTCATGCAACGCCCATTTAAGTCTCATATAATTAAAGTTCCACAGCACTTGTCAGGTTTTCGGAGACATTATTCATGCCTGGCCACGAGCCCAGTGGTCTTGGGAGGCAGTGTGGTGAAGTGGACCACACACAGCTTGGGAACTAGGACGCAGGCAGCCTTGGTTCTAGTCCTGCTTCCGCTCCTAGTTGCCTTTTCTGCCTCAATTTTATCACCCACAAATTGATCTCTAATGTGCATTTTGGCTCCAAAATTTTACCCAATTTTGGTTTTCTCCTAACATTGTATGTAAATTTCAAACACAGAAAAGTTGAACAGCTACATACCCATCTTGGCTCTATCATTAACGTTTTTCTACCCCAGCTTTCTTACATCCCTATTCATCTATCCACCCCTCTATCCATCCCACCAATCTCATCTTTACGCATGTTTAAATACGTTGTAGAGATCAGCACATTTTACCCCTAAACACTTCATCATTTAGCCCTTGTTTCTGCAGATGAGAAAGTTACAGTCCAGAGAAGTCAGGAACCTTGCCAAAAGGCACCCACCTAGCCAGCACTATCACTGTGGCTCCAGCCTGCTGCCTGTGCTCTCCCTTGGGGCTCTTCCACATTGTCGGGGGGCTCAGCAGGCCCAGGCTCCTCCCTGCTGAAAAGGACTAAGGCTGATGTTACTTATGTCCTCCTCAAAGGGCCTGCCCTTT
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Task1_train_5917
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This mutation occurs in OXTR, CAV3 (oxytocin receptor| caveolin 3) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Long QT syndrome 9
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GTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAAAGGGACTAACTAACCAGGAAGATTGAAGTTGGAGCCTCAGCCCTGCAGGCCACCACACAGGCCCCTCCTGTTGATCTGATTAGTCTGTACCTGCATCCACCCCCTTTTAATTTGAATGGCCCAGGAGCACTGCTAGAAAGAAAACATCTCAGAACAGTTTCAGGCATTAGCAAACAGCTCTGCAACCTCCCACTTGGCGGGCTGTACTGGTAACAACCATGGGGAGACCAGTCATGAAGCAGCTAATTTGGTTCACTGCTGTTTAATTGACCAGTGGAATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCCCCGCCTCCCGGGTTTATGCCGTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGACACCCGCTGCCATACCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGGACCAGTGGATTTTACAGCCTCCCATCCTTTCATCCTCATGATACCACTGGAAGACGTTCATTGACTCCATCTTACAGACAAGACAGCTGAGGCTTAGTGATGCTAAGTGACATCACCCATGTGTAGGCAGCTAGGAAGGTGCTTCATGCATAGCAGGGCTCGAGAGAGCTTAGGTAAGCGATGTGAGGAACCTCTGCCTGTTCACCATCCAATCCACAGGTGCTCAGTAAATTGCTGTAGGATGCATACGACCGTCCAACACCCTTCAGATCATAAAACAATAGAATTTGAGAGCTGCGACTATAGCACTGCCACTAAGTCACTGTTGGCTTTAAGCAAGTCGCTCACCTTGAGGGGGTTGAACGAGCGTGTTGTGTTGGTCAGCGGTGCCTAGGAACAGCAGCAGCTTGGGCTCAACAGGGAGCTTGTTAGAAATACAGAGCCTTAGGCCCCACTCCAGACTTGGGGAGTCGGAATCCCTGGGGCGATGATATGGTCTGGATCTGTGTCCCCTCTAAACCTCATGGTGAAACATAATCTCCAATATTGGAGGTGGGGCCGGGTGGGAGGTGATCGGATCACAGAGGCAGATCCCTCGTGGCTTAGTGCTGTCCTCACAATAGTGGGAGAGTTCTCATAAGATCTGGTTGTTGTAAAGTGTGGCACTCCACCCCCTGCCCAGCTCTCTCTCTTGCTCCCACTCTCACCAGGGGAGACGCCTGCTCTCCCTTCTCTAGCCATGGTTGAAAGCTCCCTGCGGCCTCACCTGAAGCCAAGCAGATGCCAGCACCATGATTCCTGCACAGATCACAGACCCATGGGCCAATTAAACCTCCTTTCTTTATCAATTACCCAGCCTCAGGTATGTCTTTAAAGCAATGCAAGAATAGCCTAATACAGGTAGGGTCCAGCCACCAAGGTTAACCTGACCTCTAGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTGAGAAGCGGGTGGCTTCTGTGAGTTGAGGCTTCCCCTTGCCACCCCTGCAGGTGGATTTTGAAGACGTGATCGCAGAGCCTGTGGGCACCTACAGCTTTGACGGCGTGTGGAAGGTGAGCTACACCACCTTCACTGTCTCCAAGTACTGGTGCTACCGTCTGTTGTCCACGCTGCTGGGCGTCCCACTGGCCCTGCTCTGGGGCTTCCTGTTCGCCTGCATCTCCTTCTGCCACATCTGGGCGGTGGTGCCATGCATTAAGAGCTACCTGATCGAGATCCAGTGCATCAGCCACATCTACTCACTCTGCATCCGCACCTTCTGCAACCCACTCTTCGCGGCCCTGGGCCAGGTCTGCAGCAGCATCAAGGTGGTGCTGCGGAAGGAGGTCTAAAGCCAGGTGGGGCAACAGCGGTGGCAGGGCAGGGGGTGGTGGGCCAGACTGGTCCCCGGGGGACTTCTTCACAGGGGCTGCTGGCGAGCTCTTTCTCTTTAGGGACTGCTCCATACCCCATGATGGAGCACACGGTGTAGGGAAGCCAGAAAGAAAAGACGGCCCAGCCACAGAAGCACAATGGCCCTTCGCTCTCCCCCAGCCCCACCATGATGCCCCCATGCCTGGGCGTGGGGGAAGATCATTTGCCAAGAGGCAGCTACTGCAAGTCTTTGCGTTCACTTGTACTGTAACAACATAAACCAGCACGCGGTTCCCACCCGGGGCCAACCTCTCCACGCGCACTCAGGAAAGTGACCAGTGACCACTGGCGTTAGGAAGGTGGCTCCAGTAAAGGGTTTTGGCTGCATTTGGGGAATGCTGCATTTTGTTCGTGCCTGTAAGATTGGTTTGTGTCCTGACCAGCTCCAAAAATATACTTCACTGCCCTGAAAAACAGACACAGGGAGAGTTGGTTGTCTCTTCACTTGGCCAAATGTAAGTGAAGAACAGAGTCTTTTTCTTCTTCGGATTCTATTGTTTGCTGGAACCGTACACGTTCCTTGGAAGATCATGTTTAAGTGACTCCTGTTGCCTGAGCACAAAAATGGGCACCAATGGAGGAAAATGACCCTTGGGCTGGCAGGGGCAGTGACCCTTCCAGGGTACCACTGAGGGAAGGGCCTGGGTTCAAGCCTCCCGGAACCTCCCCTTTGGCTAACCGAGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTACCTTCGCCCTCAGGAGATGTGACGAAGGAACAAGGTCTAATTTGTGCGTGTGTGGACTCACTATGGAAATAAAATGCAGTAGAAAGAGCATGTATCACTTCCTCCCTCCTCACACTCTCTCTCTCTCTCACACACACACACACACACAGTGCCCTTATCTTCTTTAGGGCTGTCTTTTCCGAGTGTGCTATCCAGAACTTAGCCATTAAAAAAGAAAGGATGGGGATGGGTGTTAGCATCTGTGGTCCGGTTCTTTCAGAAATGCTGTATATTTCTCTCAGAGATTTTCAATAGACTTTGGCACATTAAAGGCTCTGACATGTCCTGCAGTAGATAAACCTGTTTAAACCAGTATCCCCCCAATCCTATCTGACCTTTTTTTTTTCTTTTTTTCTTTTCATGCAACGCCCATTTAAGTCTCATATAATTAAAGTTCCACAGCACTTGTCAGGTTTTCGGAGACATTATTCATGCCTGGCCACGAGCCCAGTGGTCTTGGGAGGCAGTGTGGTGAAGTGGACCACACACAGCTTGGGAACTAGGACGCAGGCAGCCTTGGTTCTAGTCCTGCTTCCGCTCCTAGTTGCCTTTTCTGCCTCAATTTTATCACCCACAAATTGATCTCTAATGTGCATTTTGGCTCCAAAATTTTACCCAATTTTGGTTTTCTCCTAACATTGTATGTAAATTTCAAACACAGAAAAGTTGAACAGCTACATACCCATCTTGGCTCTATCATTAACGTTTTTCTACCCCAGCTTTCTTACATCCCTATTCATCTATCCACCCCTCTATCCATCCCACCAATCTCATCTTTACGCATGTTTAAATACGTTGTAGAGATCAGCACATTTTACCCCTAAACACTTCATCATTTAGCCCTTGTTTCTGCAGATGAGAAAGTTACAGTCCAGAGAAGTCAGGAACCTTGCCAAAAGGCACCCACCTAGCCAGCACTATCACTGTGGCTCCAGCCTGCTGCCTGTGCTCTCCCTTGGGGCTCTTCCACATTGTCGGGGGGCTCAGCAGGCCCAGGCTCCTCCCTGCTGAAAAGGACTAAGGCTGATGTTACTTATGTCCTCCTCAAAGGGCCTGCCCTTTCAAACGTCTCTTGAAATCACGAGGCCATCCATTTCAGACTTGGAATCTTGGGTTATGTAGAGAATTTGCCATCTTGGTATTTGCTATAACTGGATTTGACAATGACTCC
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GTCACTTCTTTCCCCAGAAAATATTGTACTGGAAAGAAATGCACCAAAACAATCATATCTTTAGTAATAGAGAAGTACAAACCCAAGACTCTTTTCTTTTTTCTATTCTGTTAATTCTCTGTGATATGGCCATTTTTTTTATAATGAAAGTAATTTTAATATTGGTGATGCAATAGAGGAGAGGATCCCCTCCCCATAACCAAGGCGGGAAAGGGACTAACTAACCAGGAAGATTGAAGTTGGAGCCTCAGCCCTGCAGGCCACCACACAGGCCCCTCCTGTTGATCTGATTAGTCTGTACCTGCATCCACCCCCTTTTAATTTGAATGGCCCAGGAGCACTGCTAGAAAGAAAACATCTCAGAACAGTTTCAGGCATTAGCAAACAGCTCTGCAACCTCCCACTTGGCGGGCTGTACTGGTAACAACCATGGGGAGACCAGTCATGAAGCAGCTAATTTGGTTCACTGCTGTTTAATTGACCAGTGGAATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCCCCGCCTCCCGGGTTTATGCCGTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGACACCCGCTGCCATACCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGGACCAGTGGATTTTACAGCCTCCCATCCTTTCATCCTCATGATACCACTGGAAGACGTTCATTGACTCCATCTTACAGACAAGACAGCTGAGGCTTAGTGATGCTAAGTGACATCACCCATGTGTAGGCAGCTAGGAAGGTGCTTCATGCATAGCAGGGCTCGAGAGAGCTTAGGTAAGCGATGTGAGGAACCTCTGCCTGTTCACCATCCAATCCACAGGTGCTCAGTAAATTGCTGTAGGATGCATACGACCGTCCAACACCCTTCAGATCATAAAACAATAGAATTTGAGAGCTGCGACTATAGCACTGCCACTAAGTCACTGTTGGCTTTAAGCAAGTCGCTCACCTTGAGGGGGTTGAACGAGCGTGTTGTGTTGGTCAGCGGTGCCTAGGAACAGCAGCAGCTTGGGCTCAACAGGGAGCTTGTTAGAAATACAGAGCCTTAGGCCCCACTCCAGACTTGGGGAGTCGGAATCCCTGGGGCGATGATATGGTCTGGATCTGTGTCCCCTCTAAACCTCATGGTGAAACATAATCTCCAATATTGGAGGTGGGGCCGGGTGGGAGGTGATCGGATCACAGAGGCAGATCCCTCGTGGCTTAGTGCTGTCCTCACAATAGTGGGAGAGTTCTCATAAGATCTGGTTGTTGTAAAGTGTGGCACTCCACCCCCTGCCCAGCTCTCTCTCTTGCTCCCACTCTCACCAGGGGAGACGCCTGCTCTCCCTTCTCTAGCCATGGTTGAAAGCTCCCTGCGGCCTCACCTGAAGCCAAGCAGATGCCAGCACCATGATTCCTGCACAGATCACAGACCCATGGGCCAATTAAACCTCCTTTCTTTATCAATTACCCAGCCTCAGGTATGTCTTTAAAGCAATGCAAGAATAGCCTAATACAGGTAGGGTCCAGCCACCAAGGTTAACCTGACCTCTAGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTGAGAAGCGGGTGGCTTCTGTGAGTTGAGGCTTCCCCTTGCCACCCCTGCAGGTGGATTTTGAAGACGTGATCGCAGAGCCTGTGGGCACCTACAGCTTTGACGGCGTGTGGAAGGTGAGCTACACCACCTTCACTGTCTCCAAGTACTGGTGCTACCGTCTGTTGTCCACGCTGCTGGGCGTCCCACTGGCCCTGCTCTGGGGCTTCCTGTTCGCCTGCATCTCCTTCTGCCACATCTGGGCGGTGGTGCCATGCATTAAGAGCTACCTGATCGAGATCCAGTGCATCAGCCACATCTACTCACTCTGCATCCGCACCTTCTGCAACCCACTCTTCGCGGCCCTGGGCCAGGTCTGCAGGAGCATCAAGGTGGTGCTGCGGAAGGAGGTCTAAAGCCAGGTGGGGCAACAGCGGTGGCAGGGCAGGGGGTGGTGGGCCAGACTGGTCCCCGGGGGACTTCTTCACAGGGGCTGCTGGCGAGCTCTTTCTCTTTAGGGACTGCTCCATACCCCATGATGGAGCACACGGTGTAGGGAAGCCAGAAAGAAAAGACGGCCCAGCCACAGAAGCACAATGGCCCTTCGCTCTCCCCCAGCCCCACCATGATGCCCCCATGCCTGGGCGTGGGGGAAGATCATTTGCCAAGAGGCAGCTACTGCAAGTCTTTGCGTTCACTTGTACTGTAACAACATAAACCAGCACGCGGTTCCCACCCGGGGCCAACCTCTCCACGCGCACTCAGGAAAGTGACCAGTGACCACTGGCGTTAGGAAGGTGGCTCCAGTAAAGGGTTTTGGCTGCATTTGGGGAATGCTGCATTTTGTTCGTGCCTGTAAGATTGGTTTGTGTCCTGACCAGCTCCAAAAATATACTTCACTGCCCTGAAAAACAGACACAGGGAGAGTTGGTTGTCTCTTCACTTGGCCAAATGTAAGTGAAGAACAGAGTCTTTTTCTTCTTCGGATTCTATTGTTTGCTGGAACCGTACACGTTCCTTGGAAGATCATGTTTAAGTGACTCCTGTTGCCTGAGCACAAAAATGGGCACCAATGGAGGAAAATGACCCTTGGGCTGGCAGGGGCAGTGACCCTTCCAGGGTACCACTGAGGGAAGGGCCTGGGTTCAAGCCTCCCGGAACCTCCCCTTTGGCTAACCGAGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTACCTTCGCCCTCAGGAGATGTGACGAAGGAACAAGGTCTAATTTGTGCGTGTGTGGACTCACTATGGAAATAAAATGCAGTAGAAAGAGCATGTATCACTTCCTCCCTCCTCACACTCTCTCTCTCTCTCACACACACACACACACACAGTGCCCTTATCTTCTTTAGGGCTGTCTTTTCCGAGTGTGCTATCCAGAACTTAGCCATTAAAAAAGAAAGGATGGGGATGGGTGTTAGCATCTGTGGTCCGGTTCTTTCAGAAATGCTGTATATTTCTCTCAGAGATTTTCAATAGACTTTGGCACATTAAAGGCTCTGACATGTCCTGCAGTAGATAAACCTGTTTAAACCAGTATCCCCCCAATCCTATCTGACCTTTTTTTTTTCTTTTTTTCTTTTCATGCAACGCCCATTTAAGTCTCATATAATTAAAGTTCCACAGCACTTGTCAGGTTTTCGGAGACATTATTCATGCCTGGCCACGAGCCCAGTGGTCTTGGGAGGCAGTGTGGTGAAGTGGACCACACACAGCTTGGGAACTAGGACGCAGGCAGCCTTGGTTCTAGTCCTGCTTCCGCTCCTAGTTGCCTTTTCTGCCTCAATTTTATCACCCACAAATTGATCTCTAATGTGCATTTTGGCTCCAAAATTTTACCCAATTTTGGTTTTCTCCTAACATTGTATGTAAATTTCAAACACAGAAAAGTTGAACAGCTACATACCCATCTTGGCTCTATCATTAACGTTTTTCTACCCCAGCTTTCTTACATCCCTATTCATCTATCCACCCCTCTATCCATCCCACCAATCTCATCTTTACGCATGTTTAAATACGTTGTAGAGATCAGCACATTTTACCCCTAAACACTTCATCATTTAGCCCTTGTTTCTGCAGATGAGAAAGTTACAGTCCAGAGAAGTCAGGAACCTTGCCAAAAGGCACCCACCTAGCCAGCACTATCACTGTGGCTCCAGCCTGCTGCCTGTGCTCTCCCTTGGGGCTCTTCCACATTGTCGGGGGGCTCAGCAGGCCCAGGCTCCTCCCTGCTGAAAAGGACTAAGGCTGATGTTACTTATGTCCTCCTCAAAGGGCCTGCCCTTTCAAACGTCTCTTGAAATCACGAGGCCATCCATTTCAGACTTGGAATCTTGGGTTATGTAGAGAATTTGCCATCTTGGTATTTGCTATAACTGGATTTGACAATGACTCC
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Task1_train_5918
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A variant found in Chromosome 3 affects SETD5 (SET domain containing 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
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GTAGGAATTATGTAATATTTATAGAAAGTTAAGCATGTTCTTTCTCATCTTTATTTTAGAGATAGAGTCACTGAAGTCTTAATCATGTATTTTTTTTTTTTTTTTAATATTTTCTTGCCGTTTCTGGGGAGGCAATTTCACTAGATGTAGCATGTCTCTTAGAAAAATTGAGCTTTCATCACATTTTAAAATTTCTCATCATTGATCTAAATAACATGTACAGATAAAACCTGAAAATATTAGCATGTTTTCCTTAATTATGAAGTAATTTGAGTGTCTACTAAGGTGTTCTTGCTGTTGTTTAATGTTATTGCTCTGGTTTTATTCAGTTACAGCTGGGAAGAGTCACTCGTGTTCAAAAGCACCGGAAGATCCTGAGGGCTGCAAGAGATTTGGCTTTGGACACTCTTATAATAGAGTATCGTGGGAAAGTCATGTTACGACAGCAATTTGAGGTCAATGGGCATTTCTTCAAAAAGTAAGAACGTCATTCATTGAGCAGTGAGGGCTAAGGTGGACCTGGTTGACCAGTGTTGTTGTAAAAATCATTCTGTTTGATAAGACGCTCTTGGGAGAAAAAAATCACAACTCAGATAAGCTCACACCTGTCTGCTATTTGTAGAGAAGTGCAAGTAAATCTTCAAATTGTTCAATGTATAAAATGGTGACACCTCCTTTCCAAGCCAAGCATTCCTTGCTTTGTGCTTGTTCTTTAATCAAAAGCAGACAAACGTGATGCTTTCCCAAGTTTAGGCGTTGCAAAAGACTGCTGCTGCTTCTCTCAGCATATGCTTCATATTTGGAGTCATGGGGTGGCCTTCTTATTTGTGTTGAGAATTACAGGAATTTTAATTGTATCCCTAGACCATACCCCTTTGTGCTCTTCTACTCAAAATTCAATGGTGTAGAGATGTGTGTGGATGCCCGTACTTTCGGTAATGATGCTCGGTTCATCAGAAGATCATGTACACCAAATGCAGAGGTAAGATATCTGTAGCAACTTCCCTTTGACTGGAACCATCAAATGACAAGCTTACTGAAGAAGCAGTGTGAAAACTTCACTCAGATAAAGGTCTGTAGATAATAGTCGTGATATTTCATCGTGGGAGGTGAAAAACAAAAGTAATGGTGCTTTTATACGACAAAATGGGCGCAAGGAAAGAGTTTTCTTTAGAGAAGGCAGAAATAGAAAAGAGCAAGTTAGCATTTGCTAAGGAGAAAAAGCTAGACTGGATAAGAAAATCAAGTGTAGTTATATTAAAGAGATTGCCATACGGTGGAAGTAGATGTTGTTAGGCCTAACTAAGCTATTTGGTTGCAGTTTTTTTAGATTTTAGTGAGTAATGTTTTATGAGAGGATCTAGACATTTCTAGAATTCATTACTCAGAGCAACCACATCAAATAAAGCAAGAAAATCCACAGAGCTTTACTTACTGGCTAAGGAATTTTAATTCTCTGGTGGAGCTGGAAACAGCTATAAGATGTGAAAGCGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTCGGAAGGCTGAGGTGGGCAGATAACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAAAATAGAAAACTTAGCCAGGCATTGTGGCGTGTGCCTGTATTCCCAGGTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCCGTGAGCCGAGATCACGCCACTCCACTCCAGCCTGAGCGACAGAGCAAGACTGTATCTCAAAAAAAAGATGTGAAAGTAGAGATTTTACCCTGATTTCTAACATCTCAAGGTTTCTCCACATATTTAAGAAAGTATTATAAATTTTCAAGCCAGTGCAGTATAATAGTTTCAGATGAAATGAAGGGGTTAAATAACAGATTACCATAACTCCTTAAATAAATAATAGATTACCATAACTCCAAATGGAGAGAAAGTATGGTTTTTTTCTCTCTTACGGAAAGTTCATGGTCTTTATGAAAAATCCAACCAGAAGCCTTTTCACACAGGTGCGACACATGATTGCAGATGGGATGATTCACCTGTGCATCTATGCTGTGTCTGCCATCACCAAGGATGCTGAGGTCACCATAGCATTTGATTATGAGTATAGTAACTGGTAAGACCTCAGAAACCTTTCCTAACAGGAATATCCATGTCTTACATATTAAGCTATTCACTCTATTTAAAGTCTGCTCTTGTTTCTTGCCTTTTCCTTTGTTTACTTAATCTTTTCATGACTAATGAATTTTCTGCCTAGAAATTGTAAAGGAAAAGACAGGCAAGATTTTTTTTAGAGATACGGATACCTTGTATGATACTGCTCACAAATTTCCTGACAGAAGTGTTTTCGCTTATGCCTTTTTAGCAAGAATAGCAAAATGGATATATATGTATGTATGAGACACTCCTGGAAATTACAATAGCATCCTGTTGTTATGCACAGAGTACTTATGTCAGGGACCATATAGAATGAGAATTTAGGCCAGGCGCAGTGGCTCACAGGCCTGTAATCTCAACACTTTGGAAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAATGATGAAACCCTGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGCGGCACACGCCTGTAGTCCCAGCCACTTGAGAGGCTGAGGCAGGAGAATCACTCGAACCTGAGAGGCTGAGGCTGCAGTAAGCCAAGATCACGCCACTGCACTCCAGCCTGGCAACAGAGGGAGACTCTGTCTTAAAAAAAAAGAGAGAGAATTTAATATGTTACCTCTACTTTTAATTTGTCAATTATACCCTTATAAAGCTAGGGGTGAGATTTAAAGATCCACCCTGTCCACAGAAACCATGTTATCTAGCTGTATATGACAGTGCAGAAAACCATAAAGGGCAATTCATAGATGAATATGTGGGATTTTTTAAAGTATATGCTTTTTGTTCTTTGGTCATTTGGGGCAAAATAGAGGTTATGTGGTAAAGTGATGTTTGGCCCAGGTATAAGGAAAAAAGATGTTCTGCTTAATTCATCAAGGAAAATAAAAAAGGTTTTAAGAAGGTTATAAAAGGTTTTAAGAAGTAGGGAATTAGTAGGTAAAAGTGAGGACATGGTAATCGTGGGCACAAGATGAGTATGGCCACATCAGACTTTATCATTGATAAACTGCCTGCTAAATAGCCAATAAACCACTGGGGGGATTGAATTTAGGGAGGGCTTTCTTTTTTTTTTCCCACTGACCATGGAGTAGAATTGGGGTTACACAAAGAAAGACAGAATATTGAAAGTGTTACGTCAGGCGCGGTGACTGACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCTGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTAGACAACATGGCAAAACCCCGTCTCTGCCGAAAATAAAAAAATTAGCTGGGCGTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAAACAGAGATTACCGAGAGCTGTGATGCACCACTGCACTCCAGCCTAGATGACAGAGCGAGATTCCGTCTCCAATAAAAAGAAAAACAAAAGTATTTATAGGACTCTCTAATGTCTCTGTTTAACTTATTCAGAGACAATATCAGAGGAAGTTACTGTACTGATATTTTAAGAGGGTGAATGGATAATGTAACTGAATTTCAAGGGTACTGAGACAGGCATTTTGGTTGTTTCTTTGGAGCAGTAATTATAAAGTGGACTGTGCCTGTCACAAGGGAAACCGGAATTGTCCTATACAAAAAAGGAATCCTAATGCTACAGAACTGCCACTCCTACCACCTCCTCCAAGCCTACCCACCATTGGAGCAGAGACTAGACGTAGAAAAGCACGACGGAAAGAGCTAGAGATGGAGCAGCAGAATGAGGCTTCAGAGGAGAATAATGACCAGCAATCACAAGAAGTTCCAGAAAAAGTAACTGTATCCAGTGATCATGAGGTAATCGCCCCTGGTCAAATGATGATGCTATGGCATCAATCCTCCAAAGGAAGAGGAAC
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GTAGGAATTATGTAATATTTATAGAAAGTTAAGCATGTTCTTTCTCATCTTTATTTTAGAGATAGAGTCACTGAAGTCTTAATCATGTATTTTTTTTTTTTTTTTAATATTTTCTTGCCGTTTCTGGGGAGGCAATTTCACTAGATGTAGCATGTCTCTTAGAAAAATTGAGCTTTCATCACATTTTAAAATTTCTCATCATTGATCTAAATAACATGTACAGATAAAACCTGAAAATATTAGCATGTTTTCCTTAATTATGAAGTAATTTGAGTGTCTACTAAGGTGTTCTTGCTGTTGTTTAATGTTATTGCTCTGGTTTTATTCAGTTACAGCTGGGAAGAGTCACTCGTGTTCAAAAGCACCGGAAGATCCTGAGGGCTGCAAGAGATTTGGCTTTGGACACTCTTATAATAGAGTATCGTGGGAAAGTCATGTTACGACAGCAATTTGAGGTCAATGGGCATTTCTTCAAAAAGTAAGAACGTCATTCATTGAGCAGTGAGGGCTAAGGTGGACCTGGTTGACCAGTGTTGTTGTAAAAATCATTCTGTTTGATAAGACGCTCTTGGGAGAAAAAAATCACAACTCAGATAAGCTCACACCTGTCTGCTATTTGTAGAGAAGTGCAAGTAAATCTTCAAATTGTTCAATGTATAAAATGGTGACACCTCCTTTCCAAGCCAAGCATTCCTTGCTTTGTGCTTGTTCTTTAATCAAAAGCAGACAAACGTGATGCTTTCCCAAGTTTAGGCGTTGCAAAAGACTGCTGCTGCTTCTCTCAGCATATGCTTCATATTTGGAGTCATGGGGTGGCCTTCTTATTTGTGTTGAGAATTACAGGAATTTTAATTGTATCCCTAGACCATACCCCTTTGTGCTCTTCTACTCAAAATTCAATGGTGTAGAGATGTGTGTGGATGCCCGTACTTTCGGTAATGATGCTCGGTTCATCAGAAGATCATGTACACCAAATGCAGAGGTAAGATATCTGTAGCAACTTCCCTTTGACTGGAACCATCAAATGACAAGCTTACTGAAGAAGCAGTGTGAAAACTTCACTCAGATAAAGGTCTGTAGATAATAGTCGTGATATTTCATCGTGGGAGGTGAAAAACAAAAGTAATGGTGCTTTTATACGACAAAATGGGCGCAAGGAAAGAGTTTTCTTTAGAGAAGGCAGAAATAGAAAAGAGCAAGTTAGCATTTGCTAAGGAGAAAAAGCTAGACTGGATAAGAAAATCAAGTGTAGTTATATTAAAGAGATTGCCATACGGTGGAAGTAGATGTTGTTAGGCCTAACTAAGCTATTTGGTTGCAGTTTTTTTAGATTTTAGTGAGTAATGTTTTATGAGAGGATCTAGACATTTCTAGAATTCATTACTCAGAGCAACCACATCAAATAAAGCAAGAAAATCCACAGAGCTTTACTTACTGGCTAAGGAATTTTAATTCTCTGGTGGAGCTGGAAACAGCTATAAGATGTGAAAGCGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTCGGAAGGCTGAGGTGGGCAGATAACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAAAATAGAAAACTTAGCCAGGCATTGTGGCGTGTGCCTGTATTCCCAGGTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCCGTGAGCCGAGATCACGCCACTCCACTCCAGCCTGAGCGACAGAGCAAGACTGTATCTCAAAAAAAAGATGTGAAAGTAGAGATTTTACCCTGATTTCTAACATCTCAAGGTTTCTCCACATATTTAAGAAAGTATTATAAATTTTCAAGCCAGTGCAGTATAATAGTTTCAGATGAAATGAAGGGGTTAAATAACAGATTACCATAACTCCTTAAATAAATAATAGATTACCATAACTCCAAATGGAGAGAAAGTATGGTTTTTTTCTCTCTTACGGAAAGTTCATGGTCTTTATGAAAAATCCAACCAGAAGCCTTTTCACACAGGTGCCACACATGATTGCAGATGGGATGATTCACCTGTGCATCTATGCTGTGTCTGCCATCACCAAGGATGCTGAGGTCACCATAGCATTTGATTATGAGTATAGTAACTGGTAAGACCTCAGAAACCTTTCCTAACAGGAATATCCATGTCTTACATATTAAGCTATTCACTCTATTTAAAGTCTGCTCTTGTTTCTTGCCTTTTCCTTTGTTTACTTAATCTTTTCATGACTAATGAATTTTCTGCCTAGAAATTGTAAAGGAAAAGACAGGCAAGATTTTTTTTAGAGATACGGATACCTTGTATGATACTGCTCACAAATTTCCTGACAGAAGTGTTTTCGCTTATGCCTTTTTAGCAAGAATAGCAAAATGGATATATATGTATGTATGAGACACTCCTGGAAATTACAATAGCATCCTGTTGTTATGCACAGAGTACTTATGTCAGGGACCATATAGAATGAGAATTTAGGCCAGGCGCAGTGGCTCACAGGCCTGTAATCTCAACACTTTGGAAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAATGATGAAACCCTGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGCGGCACACGCCTGTAGTCCCAGCCACTTGAGAGGCTGAGGCAGGAGAATCACTCGAACCTGAGAGGCTGAGGCTGCAGTAAGCCAAGATCACGCCACTGCACTCCAGCCTGGCAACAGAGGGAGACTCTGTCTTAAAAAAAAAGAGAGAGAATTTAATATGTTACCTCTACTTTTAATTTGTCAATTATACCCTTATAAAGCTAGGGGTGAGATTTAAAGATCCACCCTGTCCACAGAAACCATGTTATCTAGCTGTATATGACAGTGCAGAAAACCATAAAGGGCAATTCATAGATGAATATGTGGGATTTTTTAAAGTATATGCTTTTTGTTCTTTGGTCATTTGGGGCAAAATAGAGGTTATGTGGTAAAGTGATGTTTGGCCCAGGTATAAGGAAAAAAGATGTTCTGCTTAATTCATCAAGGAAAATAAAAAAGGTTTTAAGAAGGTTATAAAAGGTTTTAAGAAGTAGGGAATTAGTAGGTAAAAGTGAGGACATGGTAATCGTGGGCACAAGATGAGTATGGCCACATCAGACTTTATCATTGATAAACTGCCTGCTAAATAGCCAATAAACCACTGGGGGGATTGAATTTAGGGAGGGCTTTCTTTTTTTTTTCCCACTGACCATGGAGTAGAATTGGGGTTACACAAAGAAAGACAGAATATTGAAAGTGTTACGTCAGGCGCGGTGACTGACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCTGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTAGACAACATGGCAAAACCCCGTCTCTGCCGAAAATAAAAAAATTAGCTGGGCGTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAAACAGAGATTACCGAGAGCTGTGATGCACCACTGCACTCCAGCCTAGATGACAGAGCGAGATTCCGTCTCCAATAAAAAGAAAAACAAAAGTATTTATAGGACTCTCTAATGTCTCTGTTTAACTTATTCAGAGACAATATCAGAGGAAGTTACTGTACTGATATTTTAAGAGGGTGAATGGATAATGTAACTGAATTTCAAGGGTACTGAGACAGGCATTTTGGTTGTTTCTTTGGAGCAGTAATTATAAAGTGGACTGTGCCTGTCACAAGGGAAACCGGAATTGTCCTATACAAAAAAGGAATCCTAATGCTACAGAACTGCCACTCCTACCACCTCCTCCAAGCCTACCCACCATTGGAGCAGAGACTAGACGTAGAAAAGCACGACGGAAAGAGCTAGAGATGGAGCAGCAGAATGAGGCTTCAGAGGAGAATAATGACCAGCAATCACAAGAAGTTCCAGAAAAAGTAACTGTATCCAGTGATCATGAGGTAATCGCCCCTGGTCAAATGATGATGCTATGGCATCAATCCTCCAAAGGAAGAGGAAC
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Task1_train_5919
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This mutation is located in gene SETD5 (SET domain containing 5) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; not provided
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TACTTTGCTCCTTCTCATTCCTGCTACCTCCATCATGTGAACCTCTTCTGTTCTCTTGACTTTGTATCATCTCATTGATTTGACCTGAAGGTTATAATTTGGGCTTTTTCCGTAATAAAGATTTTATTATAATTTTTTTATTTATTTTTCTCTATACACACAGTAGTTTTGTAGTGATTATTATCTAGTGATGGTTTGAAGAGGTTGTTTTTTTTTTTTTTTTTTTTTTTACTAACAATCTGGTTTCCGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGGCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTCGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGTGGAGATAGCGCCACTGCACTCCGGCCTGGGCAAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAATCTGGTTTCCGAAAAACTGGCTGGTCAGAATCAAAATGTATTATAGTTGGTTTGCTCTGAATTAGGAATTTTCTAGGTTTTTGTGAGTTCTGAAGTTTTTTTAAACCCTTTTAGTCATATGAACTAAAATTTTCTACTTTTATGCTGAAACCAATCCTGTGTGTTTATGACCCTGATTTGATGACTTTTTTTTTTTTCTTTTTGAGACCGACTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCAACTCACCACAATCTCTGCCTCCCGGGTTCAAGCAATTCCCCTTCCTTAGCCTCCCAAGTAGCTGGCATTACAAGCATGCGCCACCATGCCTGGGTAATTTTTTGTATTTTAGTAGAGACGGAGTTTCACCATGTTGGCCACGACGGTCTCAATCTCCCGACCTCATGATCTTCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCACCCATCCTGTTTTTCTTTCATATTAAAGTTTCAAAATAACTGACCCTTTTTGAAAAGTTTATGTTTGACCTTGCCTTTATTTACAACTATTCCCCACATTTAAAATGAAATATTTTATTTTTAATCTTCTGTTTTCCAAGTTATATGTGTCATCTTACTGGTAGTTAAATGAATTTCTGTAAATTTCCATTAAAAATACTTTTATAAAAGCTATCCACTCGTCCTCATTTGAAGCTTCCTTCTACACCAGTACTATCTCTTTCTAGACCAGGGAAGATAGAAAGGTAGAAGCCATCATGCATGCTTTTGAAAACTTAGAGAAAAGAAAGAAGCGGCGGGATCAGCCCTTGGAACAGAGCAACTCTGATGTAGAGATTACTACAACCACCTCAGAGACTCCTGTTGGTGAAGAGACAAAAACTGAAGCCCCTGAATCTGAAGTTAGCAACTCTGTTTCAAATGTTACCATCCCAAGCACCCCACAGAGTGTTGGTGTGAATACCCGGAGGTCTTCCCAAGCAGGGGTAAGAGTTGAAAAGACTTCAGCACTTAGACATCCTCACCTTTGCTAATGTCAATACCTAACTTTTGGAATTTTTAAAATCAGTGTTTTCAGCTTTGCTCCATATCACAATAAATAAGGCCATTAACTGTTTAACTGGAACCATTTCATTGGCCTATTTTATAAATGCTTATTAGAAATAACGCAAACATTTGTCGCTAGCCTCTTTAGCTCATTTAAGTGTATACATTTTTGTATTTAAAAATTAGATTTTAAATTAGTGTTTCTAATCCTTATATTTTTCATCAGTAGACATTCTGAATGCTTAAAGTGAATAGGAAATTAGACTGTTTGCTGATAAAACATTTCTGGTAAGCATCTGACCCTACTATTGCTACAGGATATTGCTGCAGAAAAACTAGTCCCCAAGCCACCTCCAGCAAAGCCTTCTAGGCCCCGGCCGAAGAGTCGAATTTCTCGGTACAGGACCAGTTCAGCCCAAAGACTAAAGCGTCAGAAGCAGGCCAATGCACAGCAGGCAGAATTGTCACAAGCTGCCTTGGAAGAGGGAGGAAGTAACAGTTTAGTAACTCCTACTGAAGCTGGAAGTCTAGACAGTTCAGGAGAAAACAGGCCATTAACAGGGTCTGACCCAACTGTGGTGTCAATTACTGGATCCCATGTCAACCGTGCTGCATCTAAATACCCCAAAACCAAAAAGGTAAGTCACAAATGCATCCTTTATAAGTCCAGTCTGGCAAGGGCTGTCTTAGTGAAATGAGAGGACCTATAATCCCTAGAAGAAACTAATCTCAATATTACTAGATTGAAAGTTCTAAAATGCTTTGACACAAAAGGCTGGAGTCATCCTGCTACCTGTTTCCTTATTTTTAGTCAGCTTAAATCACTGATAGCTGAAATTATTCCTCTCTTAGTGGGCGTGGAGAGGGTGAAGGAAGATATCCTTGTGTTCTAGTTGCTCAATTCATTCTTACTGCAGCTGCTGCATCTCCTCCTGTCCTAGTTTCTAGATGACGTTTGTCTTTATGAACTACACTGCTACCTCTTGATTTATAAACTAATGATCTCTTTTTTACCTTAGTATCTAGTTACAGAATGGTTGAATGACAAAGCAGAGAAGCAAGAGTGCCCTGTTGAGTGCCCTTTACGTATCACAACGGATCCAACTGTACTGGCAACGACCCTAAACATGTTACCAGGTCTTATCCATTCCCCGTTAATTTGCACCACCCCCAAACACTACATTCGCTTTGGCTCACCCTTTATCCCTGAGAGACGTCGAAGGCCCCTTCTGCCTGATGGCACATTCAGCTCCTGTAAGAAGGTATGTCTGTGTTTTTGTGTGTGTGTTGTGTTTATGTGTGTGTGCTTTATTTTTTTAAGCCTAAGATTCCTATCATCATGACATAAATAAAATGTTCTCTAGATAGCCACTCTGCCCATGTGAGTTTATAATGAGTTAGTTGTTCAGCCATAAATACTGATTCATCAAGAGTCTGTGAGACTGTGGTGGAATGAATGTACTGCATTTTTAGTGCTCAGATTTGTGACTGGTCACTGATGTCTCTTCTGAGAACCCTTGAGGTTCCTGAGTGAGAGCACACAGCAGTGGATGACTGGGTAGAGACGGATATGTTTTGTGTGTGCTCTTGTGATATGGGTTAACATGTCCATTTATGATTATTGTGTGAGATTAGGCCCTGGGTCCTCTAGAACACTGTTGCATAAATGAAAAAAATTAAATTGTTTTGAATCAATTCAACCGTTATTATCCACTATCATCACTTGAAGGAAATTAGAGGAAAAATCCTATTGTAATTGGCATAATTCCTGTTCCTTGATCAAATGACAAGTCGGACTGTTTATTCCAAGAGAATACAGAATCTACCCTAAAAGACTCTCTTTCCCTCTCTGTTTCTGCCTCTTTCTCCTCTTTCCAGTTACTTACTGTTTTTGGATCTAGTGGCAGTAGCGTTTGGTGGTGTTTTTGGAATGCTCTTTCTTAATTCCCAGAAGCCCTGCATATTTTCCAAAGGTGTCTCTTAGGAATAGATCACTCCCTCAGATCTATGATGTCGTTTTCCATGTTTCTAGAAGTATAGGACACCCTTTCATTTGGTCTTCCTTTGAGGTAGAGTCTGTTCCCTGGAACACCCTTTTCTCTTATCCTCAGATCTGGATTCAGGCTGCCTTCCTCAGTGTCTGCCATTGCCCTCCTCCACTGGCATCACGTACATGAGGATGCTGCATGTAGATTATTTGATGTGATGAAGTCTCCAACTCCAGGCAGGTCTTCCCTGACTCCTCCAAACTTAAAAGCTTTTCTCTTTCCCCAAAGAACAGAAGTTATTTCTCCGGGGGAGGGGGGCATGAAAGATGAGCCAAAGTGGTGTGGGATATGGAGGGGAGGAGGGCAATAGGAATCTGCAAAAAGGAAGGACACTACTGCTGAATGAGCAGCACATTGCAGAAAGTCTTTTCCTAATTGCACATCTTACCTAAACATTGGAATCACTCATTGGTTTGTTCGGGGAAACGCTCGTAGAAT
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TACTTTGCTCCTTCTCATTCCTGCTACCTCCATCATGTGAACCTCTTCTGTTCTCTTGACTTTGTATCATCTCATTGATTTGACCTGAAGGTTATAATTTGGGCTTTTTCCGTAATAAAGATTTTATTATAATTTTTTTATTTATTTTTCTCTATACACACAGTAGTTTTGTAGTGATTATTATCTAGTGATGGTTTGAAGAGGTTGTTTTTTTTTTTTTTTTTTTTTTTACTAACAATCTGGTTTCCGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGGCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTCGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGTGGAGATAGCGCCACTGCACTCCGGCCTGGGCAAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAATCTGGTTTCCGAAAAACTGGCTGGTCAGAATCAAAATGTATTATAGTTGGTTTGCTCTGAATTAGGAATTTTCTAGGTTTTTGTGAGTTCTGAAGTTTTTTTAAACCCTTTTAGTCATATGAACTAAAATTTTCTACTTTTATGCTGAAACCAATCCTGTGTGTTTATGACCCTGATTTGATGACTTTTTTTTTTTTCTTTTTGAGACCGACTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCAACTCACCACAATCTCTGCCTCCCGGGTTCAAGCAATTCCCCTTCCTTAGCCTCCCAAGTAGCTGGCATTACAAGCATGCGCCACCATGCCTGGGTAATTTTTTGTATTTTAGTAGAGACGGAGTTTCACCATGTTGGCCACGACGGTCTCAATCTCCCGACCTCATGATCTTCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCACCCATCCTGTTTTTCTTTCATATTAAAGTTTCAAAATAACTGACCCTTTTTGAAAAGTTTATGTTTGACCTTGCCTTTATTTACAACTATTCCCCACATTTAAAATGAAATATTTTATTTTTAATCTTCTGTTTTCCAAGTTATATGTGTCATCTTACTGGTAGTTAAATGAATTTCTGTAAATTTCCATTAAAAATACTTTTATAAAAGCTATCCACTCGTCCTCATTTGAAGCTTCCTTCTACACCAGTACTATCTCTTTCTAGACCAGGGAAGATAGAAAGGTAGAAGCCATCATGCATGCTTTTGAAAACTTAGAGAAAAGAAAGAAGCGGCGGGATCAGCCCTTGGAACAGAGCAACTCTGATGTAGAGATTACTACAACCACCTCAGAGACTCCTGTTGGTGAAGAGACAAAAACTGAAGCCCCTGAATCTGAAGTTAGCAACTCTGTTTCAAATGTTACCATCCCAAGCACCCCACAGAGTGTTGGTGTGAATACCCGGAGGTCTTCCCAAGCAGGGGTAAGAGTTGAAAAGACTTCAGCACTTAGACATCCTCACCTTTGCTAATGTCAATACCTAACTTTTGGAATTTTTAAAATCAGTGTTTTCAGCTTTGCTCCATATCACAATAAATAAGGCCATTAACTGTTTAACTGGAACCATTTCATTGGCCTATTTTATAAATGCTTATTAGAAATAACGCAAACATTTGTCGCTAGCCTCTTTAGCTCATTTAAGTGTATACATTTTTGTATTTAAAAATTAGATTTTAAATTAGTGTTTCTAATCCTTATATTTTTCATCAGTAGACATTCTGAATGCTTAAAGTGAATAGGAAATTAGACTGTTTGCTGATAAAACATTTCTGGTAAGCATCTGACCCTACTATTGCTACAGGATATTGCTGCAGAAAAACTAGTCCCCAAGCCACCTCCAGCAAAGCCTTCTAGGCCCCGGCCGAAGAGTCGAATTTCTCGGTACAGGACCAGTTCAGCCCAAAGACTAAAGCGTCAGAAGCGGGCCAATGCACAGCAGGCAGAATTGTCACAAGCTGCCTTGGAAGAGGGAGGAAGTAACAGTTTAGTAACTCCTACTGAAGCTGGAAGTCTAGACAGTTCAGGAGAAAACAGGCCATTAACAGGGTCTGACCCAACTGTGGTGTCAATTACTGGATCCCATGTCAACCGTGCTGCATCTAAATACCCCAAAACCAAAAAGGTAAGTCACAAATGCATCCTTTATAAGTCCAGTCTGGCAAGGGCTGTCTTAGTGAAATGAGAGGACCTATAATCCCTAGAAGAAACTAATCTCAATATTACTAGATTGAAAGTTCTAAAATGCTTTGACACAAAAGGCTGGAGTCATCCTGCTACCTGTTTCCTTATTTTTAGTCAGCTTAAATCACTGATAGCTGAAATTATTCCTCTCTTAGTGGGCGTGGAGAGGGTGAAGGAAGATATCCTTGTGTTCTAGTTGCTCAATTCATTCTTACTGCAGCTGCTGCATCTCCTCCTGTCCTAGTTTCTAGATGACGTTTGTCTTTATGAACTACACTGCTACCTCTTGATTTATAAACTAATGATCTCTTTTTTACCTTAGTATCTAGTTACAGAATGGTTGAATGACAAAGCAGAGAAGCAAGAGTGCCCTGTTGAGTGCCCTTTACGTATCACAACGGATCCAACTGTACTGGCAACGACCCTAAACATGTTACCAGGTCTTATCCATTCCCCGTTAATTTGCACCACCCCCAAACACTACATTCGCTTTGGCTCACCCTTTATCCCTGAGAGACGTCGAAGGCCCCTTCTGCCTGATGGCACATTCAGCTCCTGTAAGAAGGTATGTCTGTGTTTTTGTGTGTGTGTTGTGTTTATGTGTGTGTGCTTTATTTTTTTAAGCCTAAGATTCCTATCATCATGACATAAATAAAATGTTCTCTAGATAGCCACTCTGCCCATGTGAGTTTATAATGAGTTAGTTGTTCAGCCATAAATACTGATTCATCAAGAGTCTGTGAGACTGTGGTGGAATGAATGTACTGCATTTTTAGTGCTCAGATTTGTGACTGGTCACTGATGTCTCTTCTGAGAACCCTTGAGGTTCCTGAGTGAGAGCACACAGCAGTGGATGACTGGGTAGAGACGGATATGTTTTGTGTGTGCTCTTGTGATATGGGTTAACATGTCCATTTATGATTATTGTGTGAGATTAGGCCCTGGGTCCTCTAGAACACTGTTGCATAAATGAAAAAAATTAAATTGTTTTGAATCAATTCAACCGTTATTATCCACTATCATCACTTGAAGGAAATTAGAGGAAAAATCCTATTGTAATTGGCATAATTCCTGTTCCTTGATCAAATGACAAGTCGGACTGTTTATTCCAAGAGAATACAGAATCTACCCTAAAAGACTCTCTTTCCCTCTCTGTTTCTGCCTCTTTCTCCTCTTTCCAGTTACTTACTGTTTTTGGATCTAGTGGCAGTAGCGTTTGGTGGTGTTTTTGGAATGCTCTTTCTTAATTCCCAGAAGCCCTGCATATTTTCCAAAGGTGTCTCTTAGGAATAGATCACTCCCTCAGATCTATGATGTCGTTTTCCATGTTTCTAGAAGTATAGGACACCCTTTCATTTGGTCTTCCTTTGAGGTAGAGTCTGTTCCCTGGAACACCCTTTTCTCTTATCCTCAGATCTGGATTCAGGCTGCCTTCCTCAGTGTCTGCCATTGCCCTCCTCCACTGGCATCACGTACATGAGGATGCTGCATGTAGATTATTTGATGTGATGAAGTCTCCAACTCCAGGCAGGTCTTCCCTGACTCCTCCAAACTTAAAAGCTTTTCTCTTTCCCCAAAGAACAGAAGTTATTTCTCCGGGGGAGGGGGGCATGAAAGATGAGCCAAAGTGGTGTGGGATATGGAGGGGAGGAGGGCAATAGGAATCTGCAAAAAGGAAGGACACTACTGCTGAATGAGCAGCACATTGCAGAAAGTCTTTTCCTAATTGCACATCTTACCTAAACATTGGAATCACTCATTGGTTTGTTCGGGGAAACGCTCGTAGAAT
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Task1_train_5920
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This sequence variant lies in BRPF1 (bromodomain and PHD finger containing 1) on Chromosome 3. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; not provided
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CCCGGCGGGCGCCCCCGGCGATGAGCCCGGACTCGAGGTGGCCGGTGAGTGCGGGCCTGGGACCAGGGCGGGAGTGGCCGGCAGGGAAGGGGTAGGCTACGTTCGTGGGACGCGCACTGAGCCGCGTGGCCCGGGAACCTCTCTGGCAACTCCAGTTGGGAGAACTGACAGTGCATTGCTTCCCAGCAGGCATCCTGGGGCAACAGTGTATCTTTCGGGGCTGCCCGGGCTAGTGGCAGGCGGGGAGCCTTGTTTCACTTGTTACACTTCCACAAAGGGGAAACGCCGCCGCATCCGGAGAGTGGGCTGCGGGCACTGCCGGGGCCCAGCCCTATCCCTCCGGCCCCCGCCCCTTACTTCCTCCAGCCCCCTGAGCTTCAGGGGCAGATGCAGCCGCCATTCTCCTTGGGCCCTCCCCACGGGCTTTCTGGTCTAAGTTCTCGTCTCCCTCGCCTGTGCCTCTGCTGCCGGGTTCCAAGGGGAGATTGCTGATTCGCTGTGCTACTTTGGGAACCATTCACCCGGGACCCAGCTTGGAAAGAGGAGAGCTTGTTTGTGCTTCGGTTGGTTTATGTTTAAAGACACAGCCGCAGGTAGGAAATAGAAGAGTTGCAGTTGGACGTGTAGCGTTACTGATGTGAAAATCAGGAGCCGTTGACAGTGGAGCTGGAGCAGCCCACTTGCCTGGTTAAGGCACAGGTGGAGAGGCCAAGAGGGGTTATTTTGTCAGGGAGCTCATGATAGCCCTGCCTGGCTGGGATGGTGCCAAGCCCCTAGCTGAATGGTTGAACTCAACTAGGCCGAGAGAAATTGGGGCAGTCTCTGACCAAGCTGGGCTTCCTGAGGCCTGGTGCCATCTGCTGTCTACACTCACCCAGGAATGTTGGGGAGCGGGGAGGGAGGGCCCCTGCGGACCAGCATGGAGCTGAGCATGCCTAGATTGTCGCGTTCGTGTTTGTACCCTTAGGGCCTGGCACTTGGTAGTCACTCAGTTGATGTGTGAGTGGGTGAACAGCTCAAATGTAATACAAGCTGCTGTCACTGACTAAATGACCTCAGTTTTCACTTTGTTTCACAGTACATCTCCTACCCAGTACCAGGGCCAGGCTCCCCATAAAGACCTCAAAAGTAAATGAATTCTTTCTGTGATCCAGTGATTTCTGCAGGAGTCCAACGCTAAAGCATTAGCCACCCACCCATTCAGCTTTCTACATGGCCTTCATCCCATCTGAGCTCTCAGTCTGGTGATCCCCTCATTCAGCTATTCGTTCAACAGGTCATTCATTCGTTCGCCAAAAACTGAATGTCCAGTGCATGCTAGGTACTGGGGATACAGAGGTGGATAGGCTCTGGTACCCTTGCTACACAGCTCCCAGTCCAGGGGGGAGACAACTTTCAGTATGTCAAGTGCTGTGGTAGAGGTGAGAATGGAATGCTGTGGAAACAGCTCCCCATGGGAGAGTCAGAGAAGTTGTGTCAGAAGTGACATTTGAGCTGGTTTTTTGAAGAATGAGTAGGAGCCCACCAATCAGAAAGTATGGAGGGCATTCCAAATAGGGATCATTTTGCAGGAATGAGAGGTTATAACATTCAGGGAATGGCAAGATCCCCTGTGTAGACAAAAACAGCTGTAACTTGTAAAAAGAAAGGAGGACTAGGGCCAGTCAGTGAAAGGAGCTCTTTGAATGGCATCATAGAGAATTTGGAATATTATCTTGAAGGAACTGGGAGCATCAGGAGGCTTTTAATGAAGAGAGTGTCATGATCATTACTACCTGGTAGAAAGATCATTCTCCTACATGATGTGAGATTGGGCTAAAGAAGTTGAGACATAGGGCAGGATAACCAGGCAAGAGGTGATGAGGGCCCAGATATGGGCTATGGTGGAGGAGATGGCATTTGGAGACACTGTAGAGGTAGGCTGGCCAGAATCTGGTGACTCCAAGTGAGGGGGAGGGCTAGAAAGACTGGGGTCTCTGGTGCAAATGGCCAGGAACTCATCCCCAGCCTTATGTTAACTGATCTGTGTATTCTAGATGTGACAGCATGGGGGTGGACTTTGATGTGAAGACTTTCTGCCACAACTTGCGGGCGACTAAGCCACCATACGAGTGCCCGGTGGAGACCTGCCGAAAGGTCTACAAGAGTTACAGTGGTATTGAGTACCACCTGTACCACTATGACCACGACAACCCACCACCCCCACAACAAACTCCACTCCGCAAGCACAAGAAAAAGGGGCGCCAGTCACGCCCAGCCAACAAGCAGTCACCCAGCCCCTCAGAGGTCTCACAGTCACCAGGCCGTGAGGTGATGAGCTATGCACAGGCCCAGCGCATGGTGGAGGTGGACTTGCATGGCCGCGTCCACCGCATCAGCATCTTTGACAACCTGGATGTGGTGTCAGAGGATGAGGAAGCCCCCGAGGAGGCCCCTGAGAATGGCAGCAACAAGGAGAACACTGAGACACCAGCTGCTACTCCCAAGTCAGGCAAACATAAGAACAAGGAGAAGCGCAAGGACTCCAACCATCACCACCACCACAATGTTTCTGCGAGCACCACTCCCAAGCTGCCAGAGGTGGTCTATCGGGAGCTGGAACAGGACACCCCTGATGCCCCACCCCGGCCAACTTCCTATTACCGGTAAGGCCACCTCTACCTTGCAGCTCTGGAAAACTGGTCAAGCAGGGCTCACTAGCCAGAGAGAGGTGAGAGGCACAGATAGAAGAGTGACAGGAATAAAGAATAGTGAAAGAACACTGATTTTGCCAGGGCAGTGAGTGGAATGGTACGCCACTAATGCACTTACTCTACAGTGCCACACGCTACTCCTTTATTTTATTCTCAAAACTCTCAGGTAGGTATTTTTCTCATTTCACAGATGAGGAAACTATGGTCAAGAAAGGGTGCCAGATTTATCCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGCCTGGCTCTGTCACCCTGCCTGGAGTGCAGTTGGCTCACCCCAACTTCCTCCTTCCGTGCTTAAGTGATCCTCCCACTCAGCCTCCTGAGTAGCTGCAACTACAGGCACATGCCACCATGCCCAGCTAGTTTTTAAAATTTTTTGTAGAGATGGGGTTTCACCATGTTGCCTAGGCTAGTCTTGAATTCCTGGACTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCAGACTTATCTGAAATCACATGCCAGTAGATAGCTGAACTGGGATTCAAACTCAGGTCCCTCTGACTCCATAGCTGTACTGTTTCCACTGTGGCAAAACATCCTGTTTCTGATTCCTGGTCCTCTCCATTTCCTTATGCATGACCTTGGGAAATGCATCCAAATTAACGTGTGTTTTAAGGACCCCATCTGCAGAGCAGATACGGTATTTCTCTGTCTCCCAAAAGGTAGAAGACTAGGATCACTGATTTCATAAGGTACTAAAAGCACTTTGTAAATCTGCAGAGGTAATTCTCCCACTATTTGTTCTGTTATTGTCATCTGTCCTTTAACATGTTTAAGCAGTATTTTATACTTAAACAATATTTAATACTCCTCCAGTGGCCCTTTTATTTTTGTCATTTAATTGTTTCTTTAACATGAGGTAAAAGATGAAGGGATATGGGGGGCAGTGTGGTGCTGAAACTACATGGAGAAATCCTGGCTGAAGGATGGCACTAAAACCAAGTGTAAAACCTCTCTGAAAGTTGGCATCCAAGGCAAAAAAGGCATTCTGATGAGTTAATTTGCCAAGAGTGTAAGTTTGTTTTCAGCTACTTAGAAGGCCTGGTCTCTGAGGAGGATTTGTCATAAAAGCTTTTATATGAAAAGCATTTTTTACCAAAAGTGCAGTCCACATGATGTTAAACCTCCATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCGACCTCCACTGGGTTCAAGCAATTCTCACGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAATTTTTGAGTTTTTAGT
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CCCGGCGGGCGCCCCCGGCGATGAGCCCGGACTCGAGGTGGCCGGTGAGTGCGGGCCTGGGACCAGGGCGGGAGTGGCCGGCAGGGAAGGGGTAGGCTACGTTCGTGGGACGCGCACTGAGCCGCGTGGCCCGGGAACCTCTCTGGCAACTCCAGTTGGGAGAACTGACAGTGCATTGCTTCCCAGCAGGCATCCTGGGGCAACAGTGTATCTTTCGGGGCTGCCCGGGCTAGTGGCAGGCGGGGAGCCTTGTTTCACTTGTTACACTTCCACAAAGGGGAAACGCCGCCGCATCCGGAGAGTGGGCTGCGGGCACTGCCGGGGCCCAGCCCTATCCCTCCGGCCCCCGCCCCTTACTTCCTCCAGCCCCCTGAGCTTCAGGGGCAGATGCAGCCGCCATTCTCCTTGGGCCCTCCCCACGGGCTTTCTGGTCTAAGTTCTCGTCTCCCTCGCCTGTGCCTCTGCTGCCGGGTTCCAAGGGGAGATTGCTGATTCGCTGTGCTACTTTGGGAACCATTCACCCGGGACCCAGCTTGGAAAGAGGAGAGCTTGTTTGTGCTTCGGTTGGTTTATGTTTAAAGACACAGCCGCAGGTAGGAAATAGAAGAGTTGCAGTTGGACGTGTAGCGTTACTGATGTGAAAATCAGGAGCCGTTGACAGTGGAGCTGGAGCAGCCCACTTGCCTGGTTAAGGCACAGGTGGAGAGGCCAAGAGGGGTTATTTTGTCAGGGAGCTCATGATAGCCCTGCCTGGCTGGGATGGTGCCAAGCCCCTAGCTGAATGGTTGAACTCAACTAGGCCGAGAGAAATTGGGGCAGTCTCTGACCAAGCTGGGCTTCCTGAGGCCTGGTGCCATCTGCTGTCTACACTCACCCAGGAATGTTGGGGAGCGGGGAGGGAGGGCCCCTGCGGACCAGCATGGAGCTGAGCATGCCTAGATTGTCGCGTTCGTGTTTGTACCCTTAGGGCCTGGCACTTGGTAGTCACTCAGTTGATGTGTGAGTGGGTGAACAGCTCAAATGTAATACAAGCTGCTGTCACTGACTAAATGACCTCAGTTTTCACTTTGTTTCACAGTACATCTCCTACCCAGTACCAGGGCCAGGCTCCCCATAAAGACCTCAAAAGTAAATGAATTCTTTCTGTGATCCAGTGATTTCTGCAGGAGTCCAACGCTAAAGCATTAGCCACCCACCCATTCAGCTTTCTACATGGCCTTCATCCCATCTGAGCTCTCAGTCTGGTGATCCCCTCATTCAGCTATTCGTTCAACAGGTCATTCATTCGTTCGCCAAAAACTGAATGTCCAGTGCATGCTAGGTACTGGGGATACAGAGGTGGATAGGCTCTGGTACCCTTGCTACACAGCTCCCAGTCCAGGGGGGAGACAACTTTCAGTATGTCAAGTGCTGTGGTAGAGGTGAGAATGGAATGCTGTGGAAACAGCTCCCCATGGGAGAGTCAGAGAAGTTGTGTCAGAAGTGACATTTGAGCTGGTTTTTTGAAGAATGAGTAGGAGCCCACCAATCAGAAAGTATGGAGGGCATTCCAAATAGGGATCATTTTGCAGGAATGAGAGGTTATAACATTCAGGGAATGGCAAGATCCCCTGTGTAGACAAAAACAGCTGTAACTTGTAAAAAGAAAGGAGGACTAGGGCCAGTCAGTGAAAGGAGCTCTTTGAATGGCATCATAGAGAATTTGGAATATTATCTTGAAGGAACTGGGAGCATCAGGAGGCTTTTAATGAAGAGAGTGTCATGATCATTACTACCTGGTAGAAAGATCATTCTCCTACATGATGTGAGATTGGGCTAAAGAAGTTGAGACATAGGGCAGGATAACCAGGCAAGAGGTGATGAGGGCCCAGATATGGGCTATGGTGGAGGAGATGGCATTTGGAGACACTGTAGAGGTAGGCTGGCCAGAATCTGGTGACTCCAAGTGAGGGGGAGGGCTAGAAAGACTGGGGTCTCTGGTGCAAATGGCCAGGAACTCATCCCCAGCCTTATGTTAACTGATCTGTGTATTCTAGATGTGACAGCATAGGGGTGGACTTTGATGTGAAGACTTTCTGCCACAACTTGCGGGCGACTAAGCCACCATACGAGTGCCCGGTGGAGACCTGCCGAAAGGTCTACAAGAGTTACAGTGGTATTGAGTACCACCTGTACCACTATGACCACGACAACCCACCACCCCCACAACAAACTCCACTCCGCAAGCACAAGAAAAAGGGGCGCCAGTCACGCCCAGCCAACAAGCAGTCACCCAGCCCCTCAGAGGTCTCACAGTCACCAGGCCGTGAGGTGATGAGCTATGCACAGGCCCAGCGCATGGTGGAGGTGGACTTGCATGGCCGCGTCCACCGCATCAGCATCTTTGACAACCTGGATGTGGTGTCAGAGGATGAGGAAGCCCCCGAGGAGGCCCCTGAGAATGGCAGCAACAAGGAGAACACTGAGACACCAGCTGCTACTCCCAAGTCAGGCAAACATAAGAACAAGGAGAAGCGCAAGGACTCCAACCATCACCACCACCACAATGTTTCTGCGAGCACCACTCCCAAGCTGCCAGAGGTGGTCTATCGGGAGCTGGAACAGGACACCCCTGATGCCCCACCCCGGCCAACTTCCTATTACCGGTAAGGCCACCTCTACCTTGCAGCTCTGGAAAACTGGTCAAGCAGGGCTCACTAGCCAGAGAGAGGTGAGAGGCACAGATAGAAGAGTGACAGGAATAAAGAATAGTGAAAGAACACTGATTTTGCCAGGGCAGTGAGTGGAATGGTACGCCACTAATGCACTTACTCTACAGTGCCACACGCTACTCCTTTATTTTATTCTCAAAACTCTCAGGTAGGTATTTTTCTCATTTCACAGATGAGGAAACTATGGTCAAGAAAGGGTGCCAGATTTATCCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGCCTGGCTCTGTCACCCTGCCTGGAGTGCAGTTGGCTCACCCCAACTTCCTCCTTCCGTGCTTAAGTGATCCTCCCACTCAGCCTCCTGAGTAGCTGCAACTACAGGCACATGCCACCATGCCCAGCTAGTTTTTAAAATTTTTTGTAGAGATGGGGTTTCACCATGTTGCCTAGGCTAGTCTTGAATTCCTGGACTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCAGACTTATCTGAAATCACATGCCAGTAGATAGCTGAACTGGGATTCAAACTCAGGTCCCTCTGACTCCATAGCTGTACTGTTTCCACTGTGGCAAAACATCCTGTTTCTGATTCCTGGTCCTCTCCATTTCCTTATGCATGACCTTGGGAAATGCATCCAAATTAACGTGTGTTTTAAGGACCCCATCTGCAGAGCAGATACGGTATTTCTCTGTCTCCCAAAAGGTAGAAGACTAGGATCACTGATTTCATAAGGTACTAAAAGCACTTTGTAAATCTGCAGAGGTAATTCTCCCACTATTTGTTCTGTTATTGTCATCTGTCCTTTAACATGTTTAAGCAGTATTTTATACTTAAACAATATTTAATACTCCTCCAGTGGCCCTTTTATTTTTGTCATTTAATTGTTTCTTTAACATGAGGTAAAAGATGAAGGGATATGGGGGGCAGTGTGGTGCTGAAACTACATGGAGAAATCCTGGCTGAAGGATGGCACTAAAACCAAGTGTAAAACCTCTCTGAAAGTTGGCATCCAAGGCAAAAAAGGCATTCTGATGAGTTAATTTGCCAAGAGTGTAAGTTTGTTTTCAGCTACTTAGAAGGCCTGGTCTCTGAGGAGGATTTGTCATAAAAGCTTTTATATGAAAAGCATTTTTTACCAAAAGTGCAGTCCACATGATGTTAAACCTCCATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCGACCTCCACTGGGTTCAAGCAATTCTCACGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAATTTTTGAGTTTTTAGT
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Task1_train_5921
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This genomic variant is located on Chromosome 3, within the BRPF1 (bromodomain and PHD finger containing 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Intellectual developmental disorder with dysmorphic facies and ptosis
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CACCACTTTACAGATGAACAAACAAGGCTCAGGGAGCTTAGCTCACTTGCCCTCTGTTAGACAGCACCCAGGCAGTGTGGCTCCAGAGCCTGTGTGTGCTGGCCCACTCTAGCAGCCAAAGTTCCATTTCCCACATAAGAGGAGAAACGAGCTAATGTTTTTCTAGGGCCTGCTGTGTGCCACTTGACTTAGCTCATTCATTTTTCAAAACAACTTTTTAATAAAAAGATAAATGTACATATTTGCACACGTCTGTATGTGGTCACACATGACTTAGTGGTTAGGTGGCATTTTACACCAAGGTGCTCACACTTCCTTCCATGGGCCTGCTGGGGGTTGCTGGAGCCTGATGGGGTAGTAGGCACTGGGCAAGGTAGTATATAAATAAATGTAAAGGCCAAGAGTTTGTGGCCTATTCATTTTTATAATTCCATATAACCCTGACAGTTTCTTTGTGAGTGGGTAGTATTATCCTCGTTCTGTCATCAGTAAAACTGAGGTTTAGTACAGCAGTGATGTCCTAAAAGTCATAAAATGGCAGAGGCAGGATTTAAATCTGGTTTGCTTAGAAGCCAAAGCCCCATCCCTTCCTTTGTACCCTGTAGTTTACAGTGCCAGAGTCTAGGCCACCTATAGCATGCCAGGCAAGGAGCACCTTCTCTGTGTGACAAGCACCGAGAGCAGCCCTCAATTCCAGGCCTGTTGGCATAGTAAGTGATACAGGTTGGACATTAAGAGCACTGGGCTGGAGGTTGAATGCCTCTGCCTCTGCCACTCCCTTGTTATGTGACCTATCTATGTTTTGATTAACTTCTCAAAGCTTAAGTTTTCTTATCTGCAAAATGAGGACAACAAGAACACTAACTCTATGGCTGTGGTAAGAATAAATGTAATAGTTAAGCACAATGCCTGGCTCATAGGAAATCCTCAGTAAACCTTAGCTATTATAATTGTTATCTCCCAAGGCTATCCAGTGAACAAACATAGCACCTAGAGTTTGACGGAGCCTTGAGCTGATGCTGACACTAGCTGAGAGAAGATCCATGGCAGCTCTAGTCGAGGCCCTGCCCACCAGTGCTAAAACAACTTATATGTAATTTGTCAATGACATCCAATGACCTTCCTTCTTCCCCGATTCTTCGTACCATCATCTGGACCACTCTAAGGGGTACTAGCTGCCCCACCTTCCTCCTTTTAGAGGAGGCTGGCTGAGCCTCTGCAACCCCAAGAAGATGGTGTCACATATAGCAGCTAGGACATGAGCTTTGCAGTGGCAGACCTGGGTTCACATCCCAGCTCCACCACTTTCTCACAAGTGAGCTGGGGCCAGGTGATTAACCTTCCAAGCCTTAGGTTTCCTTTTCAGCAAAATAGAAACGATGATAGTACCTATAATATCTGGAGTTAAGGTGAGGATGAAATGAGACAACACATCTGAAGGGCATAGGCACAGAGTAAGTGCTCAATGGCAAATGACCCATCATCTTTAAGGGAGGGAAATCTCAACCATGTGATGCTGAGTTCCCTGTTTGTACCGTAGGTACATCGAGAAGTCTGCAGAGGAGCTGGACGAGGAAGTAGAGTATGACATGGACGAGGAGGACTACATCTGGCTGGATATCATGAATGAGCGTCGGAAGACAGAGGGTGTAAGTCCCATCCCGCAGGAGATCTTTGAGTACCTAATGGACCGACTGGAGAAGGAGTCGTACTTTGAGAGTCATAATAAAGGCGACCCTAATGCGCTAGTGGACGAGGATGCTGTTTGCTGTATCTGCAATGATGGTGAGTGCCAGAACAGCAATGTCATCCTCTTCTGTGACATGTGCAACCTGGCCGTGCACCAGGAGTGCTACGGTGTCCCCTATATCCCTGAGGGCCAGTGGCTGTGCCGCCGTTGCCTGCAGTCACCCTCTCGTGCTGTGGATTGTGCCCTGTGCCCCAACAAGGGCGGTGCCTTCAAGCAGACAGATGACGGGCGCTGGGCCCATGTGGTGTGTGCCTTGTGGATCCCTGAGGTCTGCTTCGCCAACACGGTCTTCCTAGAGCCTATTGACAGCATTGAGCACATCCCACCAGCTCGCTGGAAGCTCACCTGCTACATTTGCAAACAACGGGGCTCAGGGGCCTGCATCCAGTGCCACAAGGCCAACTGTTACACAGCTTTCCATGTGACATGCGCCCAGCAGGCTGGCCTTTACATGAAGATGGAGCCTGTGCGGGAGACAGGCGCCAACGGCACCTCTTTCAGTGTCCGCAAGACAGCCTACTGCGACATCCACACGCCTCCAGGTTCAGCACGCCGACTGCCTGCCCTGTCCCACAGCGAGGGTGAGGAGGATGAAGATGAGGAGGAGGATGAGGGTAAGGGCTGGAGCTCAGAGAAAGTCAAGAAGGCCAAGGCCAAGTCCCGGATCAAAATGAAGAAGGCACGGAAGATCCTGGCAGAGAAGCGGGCAGCAGCACCTGTGGTGTCAGTGCCCTGCATCCCACCACACAGGTATGTGGGGAGCCGGTGGACAGGCAGATGAGGGAGAAAGGAGCCTCCAGGAGAGGAGCTGGCAGCCTCCTGAGTGGAATGGCAGGGCTGGGCTATCTTCCCAGGAGCTGCATAGAAGTTAAAAAGAACATATTTTCAAAACAGATAGTTGTCTTTAGCAGGTCACCTGACTTTCACATTAAGAGCCAGAAATGTCAGCTTTTATCTGGCATAGCTAACAGGCGTTTTGGAACTGCCCTTCATTTTGATGGTGTGGTTTGTTAAGTTGGGATGGAAGAGGATGGAACTGCCACTGGCAGCAATGGAAAAAATGGTCTGAATATGAAGAAACAAATAGAATGAAAAGCGGGGAAGGGGAAGCTCAAGAAGTTGTGAAGTGGTTACTGCTGCTCATTTGGGCTGTGATGGCCAGGGATTTTTTTAGTTCTCTTGTGCCGTTTATTTGATTTACTATATATTTCTGCTGTACAGTTGTACTTCATTTTAAAACCTTCAAAGGCTCAGTCTCAGTGGGGCTCCCAGGGTCAAATAGTACTCTGGGCTGCAGTGACTAGAGCAGTCTTAGGGGCAGAAGTCCCTGATTGCTGGTGTACAGGGTTAGGGATCTGGTTTAGTGCTGGGAGCTTGGTTTCCTGTCTGCCACGGTACCACTGATGGCACCACTCTTTCTTCCTTGCCTTAAGTCCAGAGTCCCAGGCCTTTTGGACAAGAGATCCTCTCCCTTCATCCCCATTCAGGAACTTTCACTGGCCAGAGACCCTTGCTCTGCTTAAGAGAATCAGGGCCCAACAAGTTTTACTCTTTGTTTCCTGCCTCCCAGGCTTAGTAAAATCACCAACCGCCTGACCATCCAAAGGAAGAGCCAGTTCATGCAGAGGCTGCACAGCTACTGGACACTGAAGCGGCAGTCACGGAATGGGGTCCCATTGCTACGTCGCCTGCAGACACACCTGCAATCTCAGAGGAACTGTGACCAAGTTGGGGTACTGTGTCCAGTTCCCTGTGGGCTCTGGGAACTAGCGCCAGGGGGACGAAAACCAAAATTTGCAACTGTAGTTTCCAGTGTCAGAGGGCTTAGACTCTTTCCTCCTTTAAGCTAGCCCTCAAACCAGGATCAGCATGGAATGTTCAATGAAAAGATGTTGTTCCTATGTGTTTATGTATTCATTCAACAAACACATACCAAGCATTTATTCTGCCAGGCCTTGGGGACACACAGATTGAGGCACTACCAATAAATTACTGTGCTCCCTCTTTTGGCTTGACCTGAGTTTCCTGGGCTCTCTTCTCCCTGTTGACCTTTCCTCTGGCTTTCTAATCATCCTCTGATCTTCGTTTTGCCTCTACAGAGAGATTCTGAGGATAAGAACTGGGCCCTTAAAGAACAGCTCAAGTCCTGGCAGCGGCTCCGGCATGACTTGGAGCGAGCTCGGCTGCTCGTGGAATTGATCCGCAAGCGGGAAAAACTCAAAAGGGAGACGGTGAGTGCTCCTGGGCCAGCCCTATTTTATAAAAGAAAAAACAAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG
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CACCACTTTACAGATGAACAAACAAGGCTCAGGGAGCTTAGCTCACTTGCCCTCTGTTAGACAGCACCCAGGCAGTGTGGCTCCAGAGCCTGTGTGTGCTGGCCCACTCTAGCAGCCAAAGTTCCATTTCCCACATAAGAGGAGAAACGAGCTAATGTTTTTCTAGGGCCTGCTGTGTGCCACTTGACTTAGCTCATTCATTTTTCAAAACAACTTTTTAATAAAAAGATAAATGTACATATTTGCACACGTCTGTATGTGGTCACACATGACTTAGTGGTTAGGTGGCATTTTACACCAAGGTGCTCACACTTCCTTCCATGGGCCTGCTGGGGGTTGCTGGAGCCTGATGGGGTAGTAGGCACTGGGCAAGGTAGTATATAAATAAATGTAAAGGCCAAGAGTTTGTGGCCTATTCATTTTTATAATTCCATATAACCCTGACAGTTTCTTTGTGAGTGGGTAGTATTATCCTCGTTCTGTCATCAGTAAAACTGAGGTTTAGTACAGCAGTGATGTCCTAAAAGTCATAAAATGGCAGAGGCAGGATTTAAATCTGGTTTGCTTAGAAGCCAAAGCCCCATCCCTTCCTTTGTACCCTGTAGTTTACAGTGCCAGAGTCTAGGCCACCTATAGCATGCCAGGCAAGGAGCACCTTCTCTGTGTGACAAGCACCGAGAGCAGCCCTCAATTCCAGGCCTGTTGGCATAGTAAGTGATACAGGTTGGACATTAAGAGCACTGGGCTGGAGGTTGAATGCCTCTGCCTCTGCCACTCCCTTGTTATGTGACCTATCTATGTTTTGATTAACTTCTCAAAGCTTAAGTTTTCTTATCTGCAAAATGAGGACAACAAGAACACTAACTCTATGGCTGTGGTAAGAATAAATGTAATAGTTAAGCACAATGCCTGGCTCATAGGAAATCCTCAGTAAACCTTAGCTATTATAATTGTTATCTCCCAAGGCTATCCAGTGAACAAACATAGCACCTAGAGTTTGACGGAGCCTTGAGCTGATGCTGACACTAGCTGAGAGAAGATCCATGGCAGCTCTAGTCGAGGCCCTGCCCACCAGTGCTAAAACAACTTATATGTAATTTGTCAATGACATCCAATGACCTTCCTTCTTCCCCGATTCTTCGTACCATCATCTGGACCACTCTAAGGGGTACTAGCTGCCCCACCTTCCTCCTTTTAGAGGAGGCTGGCTGAGCCTCTGCAACCCCAAGAAGATGGTGTCACATATAGCAGCTAGGACATGAGCTTTGCAGTGGCAGACCTGGGTTCACATCCCAGCTCCACCACTTTCTCACAAGTGAGCTGGGGCCAGGTGATTAACCTTCCAAGCCTTAGGTTTCCTTTTCAGCAAAATAGAAACGATGATAGTACCTATAATATCTGGAGTTAAGGTGAGGATGAAATGAGACAACACATCTGAAGGGCATAGGCACAGAGTAAGTGCTCAATGGCAAATGACCCATCATCTTTAAGGGAGGGAAATCTCAACCATGTGATGCTGAGTTCCCTGTTTGTACCGTAGGTACATCGAGAAGTCTGCAGAGGAGCTGGACGAGGAAGTAGAGTATGACATGGACGAGGAGGACTACATCTGGCTGGATATCATGAATGAGCGTCGGAAGACAGAGGGTGTAAGTCCCATCCCGCAGGAGATCTTTGAGTACCTAATGGACCGACTGGAGAAGGAGTCGTACTTTGAGAGTCATAATAAAGGCGACCCTAATGCGCTAGTGGACGAGGATGCTGTTTGCTGTATCTGCAATGATGGTGAGTGCCAGAACAGCAATGTCATCCTCTTCTGTGACATGTGCAACCTGGCCGTGCACCAGGAGTGCTACGGTGTCCCCTATATCCCTGAGGGCCAGTGGCTGTGCCGCCGTTGCCTGCAGTCACCCTCTCGTGCTGTGGATTGTGCCCTGTGCCCCAACAAGGGCGGTGCCTTCAAGCAGACAGATGACGGGCGCTGGGCCCATGTGGTGTGTGCCTTGTGGATCCCTGAGGTCTGCTTCGCCAACACGGTCTTCCTAGAGTCTATTGACAGCATTGAGCACATCCCACCAGCTCGCTGGAAGCTCACCTGCTACATTTGCAAACAACGGGGCTCAGGGGCCTGCATCCAGTGCCACAAGGCCAACTGTTACACAGCTTTCCATGTGACATGCGCCCAGCAGGCTGGCCTTTACATGAAGATGGAGCCTGTGCGGGAGACAGGCGCCAACGGCACCTCTTTCAGTGTCCGCAAGACAGCCTACTGCGACATCCACACGCCTCCAGGTTCAGCACGCCGACTGCCTGCCCTGTCCCACAGCGAGGGTGAGGAGGATGAAGATGAGGAGGAGGATGAGGGTAAGGGCTGGAGCTCAGAGAAAGTCAAGAAGGCCAAGGCCAAGTCCCGGATCAAAATGAAGAAGGCACGGAAGATCCTGGCAGAGAAGCGGGCAGCAGCACCTGTGGTGTCAGTGCCCTGCATCCCACCACACAGGTATGTGGGGAGCCGGTGGACAGGCAGATGAGGGAGAAAGGAGCCTCCAGGAGAGGAGCTGGCAGCCTCCTGAGTGGAATGGCAGGGCTGGGCTATCTTCCCAGGAGCTGCATAGAAGTTAAAAAGAACATATTTTCAAAACAGATAGTTGTCTTTAGCAGGTCACCTGACTTTCACATTAAGAGCCAGAAATGTCAGCTTTTATCTGGCATAGCTAACAGGCGTTTTGGAACTGCCCTTCATTTTGATGGTGTGGTTTGTTAAGTTGGGATGGAAGAGGATGGAACTGCCACTGGCAGCAATGGAAAAAATGGTCTGAATATGAAGAAACAAATAGAATGAAAAGCGGGGAAGGGGAAGCTCAAGAAGTTGTGAAGTGGTTACTGCTGCTCATTTGGGCTGTGATGGCCAGGGATTTTTTTAGTTCTCTTGTGCCGTTTATTTGATTTACTATATATTTCTGCTGTACAGTTGTACTTCATTTTAAAACCTTCAAAGGCTCAGTCTCAGTGGGGCTCCCAGGGTCAAATAGTACTCTGGGCTGCAGTGACTAGAGCAGTCTTAGGGGCAGAAGTCCCTGATTGCTGGTGTACAGGGTTAGGGATCTGGTTTAGTGCTGGGAGCTTGGTTTCCTGTCTGCCACGGTACCACTGATGGCACCACTCTTTCTTCCTTGCCTTAAGTCCAGAGTCCCAGGCCTTTTGGACAAGAGATCCTCTCCCTTCATCCCCATTCAGGAACTTTCACTGGCCAGAGACCCTTGCTCTGCTTAAGAGAATCAGGGCCCAACAAGTTTTACTCTTTGTTTCCTGCCTCCCAGGCTTAGTAAAATCACCAACCGCCTGACCATCCAAAGGAAGAGCCAGTTCATGCAGAGGCTGCACAGCTACTGGACACTGAAGCGGCAGTCACGGAATGGGGTCCCATTGCTACGTCGCCTGCAGACACACCTGCAATCTCAGAGGAACTGTGACCAAGTTGGGGTACTGTGTCCAGTTCCCTGTGGGCTCTGGGAACTAGCGCCAGGGGGACGAAAACCAAAATTTGCAACTGTAGTTTCCAGTGTCAGAGGGCTTAGACTCTTTCCTCCTTTAAGCTAGCCCTCAAACCAGGATCAGCATGGAATGTTCAATGAAAAGATGTTGTTCCTATGTGTTTATGTATTCATTCAACAAACACATACCAAGCATTTATTCTGCCAGGCCTTGGGGACACACAGATTGAGGCACTACCAATAAATTACTGTGCTCCCTCTTTTGGCTTGACCTGAGTTTCCTGGGCTCTCTTCTCCCTGTTGACCTTTCCTCTGGCTTTCTAATCATCCTCTGATCTTCGTTTTGCCTCTACAGAGAGATTCTGAGGATAAGAACTGGGCCCTTAAAGAACAGCTCAAGTCCTGGCAGCGGCTCCGGCATGACTTGGAGCGAGCTCGGCTGCTCGTGGAATTGATCCGCAAGCGGGAAAAACTCAAAAGGGAGACGGTGAGTGCTCCTGGGCCAGCCCTATTTTATAAAAGAAAAAACAAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG
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Task1_train_5922
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A variant affecting Chromosome 3, within the gene BRPF1 (bromodomain and PHD finger containing 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Intellectual developmental disorder with dysmorphic facies and ptosis
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TAGACAGCACCCAGGCAGTGTGGCTCCAGAGCCTGTGTGTGCTGGCCCACTCTAGCAGCCAAAGTTCCATTTCCCACATAAGAGGAGAAACGAGCTAATGTTTTTCTAGGGCCTGCTGTGTGCCACTTGACTTAGCTCATTCATTTTTCAAAACAACTTTTTAATAAAAAGATAAATGTACATATTTGCACACGTCTGTATGTGGTCACACATGACTTAGTGGTTAGGTGGCATTTTACACCAAGGTGCTCACACTTCCTTCCATGGGCCTGCTGGGGGTTGCTGGAGCCTGATGGGGTAGTAGGCACTGGGCAAGGTAGTATATAAATAAATGTAAAGGCCAAGAGTTTGTGGCCTATTCATTTTTATAATTCCATATAACCCTGACAGTTTCTTTGTGAGTGGGTAGTATTATCCTCGTTCTGTCATCAGTAAAACTGAGGTTTAGTACAGCAGTGATGTCCTAAAAGTCATAAAATGGCAGAGGCAGGATTTAAATCTGGTTTGCTTAGAAGCCAAAGCCCCATCCCTTCCTTTGTACCCTGTAGTTTACAGTGCCAGAGTCTAGGCCACCTATAGCATGCCAGGCAAGGAGCACCTTCTCTGTGTGACAAGCACCGAGAGCAGCCCTCAATTCCAGGCCTGTTGGCATAGTAAGTGATACAGGTTGGACATTAAGAGCACTGGGCTGGAGGTTGAATGCCTCTGCCTCTGCCACTCCCTTGTTATGTGACCTATCTATGTTTTGATTAACTTCTCAAAGCTTAAGTTTTCTTATCTGCAAAATGAGGACAACAAGAACACTAACTCTATGGCTGTGGTAAGAATAAATGTAATAGTTAAGCACAATGCCTGGCTCATAGGAAATCCTCAGTAAACCTTAGCTATTATAATTGTTATCTCCCAAGGCTATCCAGTGAACAAACATAGCACCTAGAGTTTGACGGAGCCTTGAGCTGATGCTGACACTAGCTGAGAGAAGATCCATGGCAGCTCTAGTCGAGGCCCTGCCCACCAGTGCTAAAACAACTTATATGTAATTTGTCAATGACATCCAATGACCTTCCTTCTTCCCCGATTCTTCGTACCATCATCTGGACCACTCTAAGGGGTACTAGCTGCCCCACCTTCCTCCTTTTAGAGGAGGCTGGCTGAGCCTCTGCAACCCCAAGAAGATGGTGTCACATATAGCAGCTAGGACATGAGCTTTGCAGTGGCAGACCTGGGTTCACATCCCAGCTCCACCACTTTCTCACAAGTGAGCTGGGGCCAGGTGATTAACCTTCCAAGCCTTAGGTTTCCTTTTCAGCAAAATAGAAACGATGATAGTACCTATAATATCTGGAGTTAAGGTGAGGATGAAATGAGACAACACATCTGAAGGGCATAGGCACAGAGTAAGTGCTCAATGGCAAATGACCCATCATCTTTAAGGGAGGGAAATCTCAACCATGTGATGCTGAGTTCCCTGTTTGTACCGTAGGTACATCGAGAAGTCTGCAGAGGAGCTGGACGAGGAAGTAGAGTATGACATGGACGAGGAGGACTACATCTGGCTGGATATCATGAATGAGCGTCGGAAGACAGAGGGTGTAAGTCCCATCCCGCAGGAGATCTTTGAGTACCTAATGGACCGACTGGAGAAGGAGTCGTACTTTGAGAGTCATAATAAAGGCGACCCTAATGCGCTAGTGGACGAGGATGCTGTTTGCTGTATCTGCAATGATGGTGAGTGCCAGAACAGCAATGTCATCCTCTTCTGTGACATGTGCAACCTGGCCGTGCACCAGGAGTGCTACGGTGTCCCCTATATCCCTGAGGGCCAGTGGCTGTGCCGCCGTTGCCTGCAGTCACCCTCTCGTGCTGTGGATTGTGCCCTGTGCCCCAACAAGGGCGGTGCCTTCAAGCAGACAGATGACGGGCGCTGGGCCCATGTGGTGTGTGCCTTGTGGATCCCTGAGGTCTGCTTCGCCAACACGGTCTTCCTAGAGCCTATTGACAGCATTGAGCACATCCCACCAGCTCGCTGGAAGCTCACCTGCTACATTTGCAAACAACGGGGCTCAGGGGCCTGCATCCAGTGCCACAAGGCCAACTGTTACACAGCTTTCCATGTGACATGCGCCCAGCAGGCTGGCCTTTACATGAAGATGGAGCCTGTGCGGGAGACAGGCGCCAACGGCACCTCTTTCAGTGTCCGCAAGACAGCCTACTGCGACATCCACACGCCTCCAGGTTCAGCACGCCGACTGCCTGCCCTGTCCCACAGCGAGGGTGAGGAGGATGAAGATGAGGAGGAGGATGAGGGTAAGGGCTGGAGCTCAGAGAAAGTCAAGAAGGCCAAGGCCAAGTCCCGGATCAAAATGAAGAAGGCACGGAAGATCCTGGCAGAGAAGCGGGCAGCAGCACCTGTGGTGTCAGTGCCCTGCATCCCACCACACAGGTATGTGGGGAGCCGGTGGACAGGCAGATGAGGGAGAAAGGAGCCTCCAGGAGAGGAGCTGGCAGCCTCCTGAGTGGAATGGCAGGGCTGGGCTATCTTCCCAGGAGCTGCATAGAAGTTAAAAAGAACATATTTTCAAAACAGATAGTTGTCTTTAGCAGGTCACCTGACTTTCACATTAAGAGCCAGAAATGTCAGCTTTTATCTGGCATAGCTAACAGGCGTTTTGGAACTGCCCTTCATTTTGATGGTGTGGTTTGTTAAGTTGGGATGGAAGAGGATGGAACTGCCACTGGCAGCAATGGAAAAAATGGTCTGAATATGAAGAAACAAATAGAATGAAAAGCGGGGAAGGGGAAGCTCAAGAAGTTGTGAAGTGGTTACTGCTGCTCATTTGGGCTGTGATGGCCAGGGATTTTTTTAGTTCTCTTGTGCCGTTTATTTGATTTACTATATATTTCTGCTGTACAGTTGTACTTCATTTTAAAACCTTCAAAGGCTCAGTCTCAGTGGGGCTCCCAGGGTCAAATAGTACTCTGGGCTGCAGTGACTAGAGCAGTCTTAGGGGCAGAAGTCCCTGATTGCTGGTGTACAGGGTTAGGGATCTGGTTTAGTGCTGGGAGCTTGGTTTCCTGTCTGCCACGGTACCACTGATGGCACCACTCTTTCTTCCTTGCCTTAAGTCCAGAGTCCCAGGCCTTTTGGACAAGAGATCCTCTCCCTTCATCCCCATTCAGGAACTTTCACTGGCCAGAGACCCTTGCTCTGCTTAAGAGAATCAGGGCCCAACAAGTTTTACTCTTTGTTTCCTGCCTCCCAGGCTTAGTAAAATCACCAACCGCCTGACCATCCAAAGGAAGAGCCAGTTCATGCAGAGGCTGCACAGCTACTGGACACTGAAGCGGCAGTCACGGAATGGGGTCCCATTGCTACGTCGCCTGCAGACACACCTGCAATCTCAGAGGAACTGTGACCAAGTTGGGGTACTGTGTCCAGTTCCCTGTGGGCTCTGGGAACTAGCGCCAGGGGGACGAAAACCAAAATTTGCAACTGTAGTTTCCAGTGTCAGAGGGCTTAGACTCTTTCCTCCTTTAAGCTAGCCCTCAAACCAGGATCAGCATGGAATGTTCAATGAAAAGATGTTGTTCCTATGTGTTTATGTATTCATTCAACAAACACATACCAAGCATTTATTCTGCCAGGCCTTGGGGACACACAGATTGAGGCACTACCAATAAATTACTGTGCTCCCTCTTTTGGCTTGACCTGAGTTTCCTGGGCTCTCTTCTCCCTGTTGACCTTTCCTCTGGCTTTCTAATCATCCTCTGATCTTCGTTTTGCCTCTACAGAGAGATTCTGAGGATAAGAACTGGGCCCTTAAAGAACAGCTCAAGTCCTGGCAGCGGCTCCGGCATGACTTGGAGCGAGCTCGGCTGCTCGTGGAATTGATCCGCAAGCGGGAAAAACTCAAAAGGGAGACGGTGAGTGCTCCTGGGCCAGCCCTATTTTATAAAAGAAAAAACAAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGAGGGGTTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCT
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TAGACAGCACCCAGGCAGTGTGGCTCCAGAGCCTGTGTGTGCTGGCCCACTCTAGCAGCCAAAGTTCCATTTCCCACATAAGAGGAGAAACGAGCTAATGTTTTTCTAGGGCCTGCTGTGTGCCACTTGACTTAGCTCATTCATTTTTCAAAACAACTTTTTAATAAAAAGATAAATGTACATATTTGCACACGTCTGTATGTGGTCACACATGACTTAGTGGTTAGGTGGCATTTTACACCAAGGTGCTCACACTTCCTTCCATGGGCCTGCTGGGGGTTGCTGGAGCCTGATGGGGTAGTAGGCACTGGGCAAGGTAGTATATAAATAAATGTAAAGGCCAAGAGTTTGTGGCCTATTCATTTTTATAATTCCATATAACCCTGACAGTTTCTTTGTGAGTGGGTAGTATTATCCTCGTTCTGTCATCAGTAAAACTGAGGTTTAGTACAGCAGTGATGTCCTAAAAGTCATAAAATGGCAGAGGCAGGATTTAAATCTGGTTTGCTTAGAAGCCAAAGCCCCATCCCTTCCTTTGTACCCTGTAGTTTACAGTGCCAGAGTCTAGGCCACCTATAGCATGCCAGGCAAGGAGCACCTTCTCTGTGTGACAAGCACCGAGAGCAGCCCTCAATTCCAGGCCTGTTGGCATAGTAAGTGATACAGGTTGGACATTAAGAGCACTGGGCTGGAGGTTGAATGCCTCTGCCTCTGCCACTCCCTTGTTATGTGACCTATCTATGTTTTGATTAACTTCTCAAAGCTTAAGTTTTCTTATCTGCAAAATGAGGACAACAAGAACACTAACTCTATGGCTGTGGTAAGAATAAATGTAATAGTTAAGCACAATGCCTGGCTCATAGGAAATCCTCAGTAAACCTTAGCTATTATAATTGTTATCTCCCAAGGCTATCCAGTGAACAAACATAGCACCTAGAGTTTGACGGAGCCTTGAGCTGATGCTGACACTAGCTGAGAGAAGATCCATGGCAGCTCTAGTCGAGGCCCTGCCCACCAGTGCTAAAACAACTTATATGTAATTTGTCAATGACATCCAATGACCTTCCTTCTTCCCCGATTCTTCGTACCATCATCTGGACCACTCTAAGGGGTACTAGCTGCCCCACCTTCCTCCTTTTAGAGGAGGCTGGCTGAGCCTCTGCAACCCCAAGAAGATGGTGTCACATATAGCAGCTAGGACATGAGCTTTGCAGTGGCAGACCTGGGTTCACATCCCAGCTCCACCACTTTCTCACAAGTGAGCTGGGGCCAGGTGATTAACCTTCCAAGCCTTAGGTTTCCTTTTCAGCAAAATAGAAACGATGATAGTACCTATAATATCTGGAGTTAAGGTGAGGATGAAATGAGACAACACATCTGAAGGGCATAGGCACAGAGTAAGTGCTCAATGGCAAATGACCCATCATCTTTAAGGGAGGGAAATCTCAACCATGTGATGCTGAGTTCCCTGTTTGTACCGTAGGTACATCGAGAAGTCTGCAGAGGAGCTGGACGAGGAAGTAGAGTATGACATGGACGAGGAGGACTACATCTGGCTGGATATCATGAATGAGCGTCGGAAGACAGAGGGTGTAAGTCCCATCCCGCAGGAGATCTTTGAGTACCTAATGGACCGACTGGAGAAGGAGTCGTACTTTGAGAGTCATAATAAAGGCGACCCTAATGCGCTAGTGGACGAGGATGCTGTTTGCTGTATCTGCAATGATGGTGAGTGCCAGAACAGCAATGTCATCCTCTTCTGTGACATGTGCAACCTGGCCGTGCACCAGGAGTGCTACGGTGTCCCCTATATCCCTGAGGGCCAGTGGCTGTGCCGCCGTTGCCTGCAGTCACCCTCTCGTGCTGTGGATTGTGCCCTGTGCCCCAACAAGGGCGGTGCCTTCAAGCAGACAGATGACGGGCGCTGGGCCCATGTGGTGTGTGCCTTGTGGATCCCTGAGGTCTGCTTCGCCAACACGGTCTTCCTAGAGCCTATTGACAGCATTGAGCACATCCCACCAGCTCGCTGGAAGCTCACCTGCTACATTCGCAAACAACGGGGCTCAGGGGCCTGCATCCAGTGCCACAAGGCCAACTGTTACACAGCTTTCCATGTGACATGCGCCCAGCAGGCTGGCCTTTACATGAAGATGGAGCCTGTGCGGGAGACAGGCGCCAACGGCACCTCTTTCAGTGTCCGCAAGACAGCCTACTGCGACATCCACACGCCTCCAGGTTCAGCACGCCGACTGCCTGCCCTGTCCCACAGCGAGGGTGAGGAGGATGAAGATGAGGAGGAGGATGAGGGTAAGGGCTGGAGCTCAGAGAAAGTCAAGAAGGCCAAGGCCAAGTCCCGGATCAAAATGAAGAAGGCACGGAAGATCCTGGCAGAGAAGCGGGCAGCAGCACCTGTGGTGTCAGTGCCCTGCATCCCACCACACAGGTATGTGGGGAGCCGGTGGACAGGCAGATGAGGGAGAAAGGAGCCTCCAGGAGAGGAGCTGGCAGCCTCCTGAGTGGAATGGCAGGGCTGGGCTATCTTCCCAGGAGCTGCATAGAAGTTAAAAAGAACATATTTTCAAAACAGATAGTTGTCTTTAGCAGGTCACCTGACTTTCACATTAAGAGCCAGAAATGTCAGCTTTTATCTGGCATAGCTAACAGGCGTTTTGGAACTGCCCTTCATTTTGATGGTGTGGTTTGTTAAGTTGGGATGGAAGAGGATGGAACTGCCACTGGCAGCAATGGAAAAAATGGTCTGAATATGAAGAAACAAATAGAATGAAAAGCGGGGAAGGGGAAGCTCAAGAAGTTGTGAAGTGGTTACTGCTGCTCATTTGGGCTGTGATGGCCAGGGATTTTTTTAGTTCTCTTGTGCCGTTTATTTGATTTACTATATATTTCTGCTGTACAGTTGTACTTCATTTTAAAACCTTCAAAGGCTCAGTCTCAGTGGGGCTCCCAGGGTCAAATAGTACTCTGGGCTGCAGTGACTAGAGCAGTCTTAGGGGCAGAAGTCCCTGATTGCTGGTGTACAGGGTTAGGGATCTGGTTTAGTGCTGGGAGCTTGGTTTCCTGTCTGCCACGGTACCACTGATGGCACCACTCTTTCTTCCTTGCCTTAAGTCCAGAGTCCCAGGCCTTTTGGACAAGAGATCCTCTCCCTTCATCCCCATTCAGGAACTTTCACTGGCCAGAGACCCTTGCTCTGCTTAAGAGAATCAGGGCCCAACAAGTTTTACTCTTTGTTTCCTGCCTCCCAGGCTTAGTAAAATCACCAACCGCCTGACCATCCAAAGGAAGAGCCAGTTCATGCAGAGGCTGCACAGCTACTGGACACTGAAGCGGCAGTCACGGAATGGGGTCCCATTGCTACGTCGCCTGCAGACACACCTGCAATCTCAGAGGAACTGTGACCAAGTTGGGGTACTGTGTCCAGTTCCCTGTGGGCTCTGGGAACTAGCGCCAGGGGGACGAAAACCAAAATTTGCAACTGTAGTTTCCAGTGTCAGAGGGCTTAGACTCTTTCCTCCTTTAAGCTAGCCCTCAAACCAGGATCAGCATGGAATGTTCAATGAAAAGATGTTGTTCCTATGTGTTTATGTATTCATTCAACAAACACATACCAAGCATTTATTCTGCCAGGCCTTGGGGACACACAGATTGAGGCACTACCAATAAATTACTGTGCTCCCTCTTTTGGCTTGACCTGAGTTTCCTGGGCTCTCTTCTCCCTGTTGACCTTTCCTCTGGCTTTCTAATCATCCTCTGATCTTCGTTTTGCCTCTACAGAGAGATTCTGAGGATAAGAACTGGGCCCTTAAAGAACAGCTCAAGTCCTGGCAGCGGCTCCGGCATGACTTGGAGCGAGCTCGGCTGCTCGTGGAATTGATCCGCAAGCGGGAAAAACTCAAAAGGGAGACGGTGAGTGCTCCTGGGCCAGCCCTATTTTATAAAAGAAAAAACAAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGAGGGGTTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCT
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Task1_train_5923
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This is a variant in BRPF1 (bromodomain and PHD finger containing 1), located on Chromosome 3. Is this mutation a likely cause of disease or not?
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Pathogenic; Intellectual developmental disorder with dysmorphic facies and ptosis
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AGGAACTGTGACCAAGTTGGGGTACTGTGTCCAGTTCCCTGTGGGCTCTGGGAACTAGCGCCAGGGGGACGAAAACCAAAATTTGCAACTGTAGTTTCCAGTGTCAGAGGGCTTAGACTCTTTCCTCCTTTAAGCTAGCCCTCAAACCAGGATCAGCATGGAATGTTCAATGAAAAGATGTTGTTCCTATGTGTTTATGTATTCATTCAACAAACACATACCAAGCATTTATTCTGCCAGGCCTTGGGGACACACAGATTGAGGCACTACCAATAAATTACTGTGCTCCCTCTTTTGGCTTGACCTGAGTTTCCTGGGCTCTCTTCTCCCTGTTGACCTTTCCTCTGGCTTTCTAATCATCCTCTGATCTTCGTTTTGCCTCTACAGAGAGATTCTGAGGATAAGAACTGGGCCCTTAAAGAACAGCTCAAGTCCTGGCAGCGGCTCCGGCATGACTTGGAGCGAGCTCGGCTGCTCGTGGAATTGATCCGCAAGCGGGAAAAACTCAAAAGGGAGACGGTGAGTGCTCCTGGGCCAGCCCTATTTTATAAAAGAAAAAACAAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGAGGGGTTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGACCCAGGAGAAGGAATAGCGTGTGTACCCCAGCCAGATAGCAGCAGGGCTGACGCTGGAGTCAGGTCTCCTGGTGCTCGGTGTGCTTTTAGTTCTGCTGGAAGCAGAATGTCACAGGAGCGTATGAACAGAATCCTCAGTTATGTGACATAGGTAGCTGGTGCTGGTAGTTCAAGAAAGGGGGAAGCCAGAATTGTTGGTGCAAGTTTCCCTGGGTGGAGCCTCATAGAAGGTAGACCTGTATGAGTACACCCAGCTGTGAGGGTGGGAAAGAAGGCGGGTTCCCAGGCCAGCTGGGACCATATCCTCAGACCTCTTTGCCACTGAACTGGCCGAGGCCTGGCTGATCAGGCCTTTTTCTATGTTAGATCAAGGTTCAGCAGATTGCCATGGAGATGCAGCTGACTCCTTTCCTCATCCTCCTTCGCAAAACCTTGGAGCAGCTCCAAGAGAAGGACACAGGCAACATCTTCAGCGAGCCGGTCCCTCTGTCTGAGGTAACCGAATTGGACGAAGTAAGAATCCCTTCCCCTCACTCCACCTTCTCTCTGTTCCTCTCCCAGTTGGACCCCTGCTGCAGGTCTGGGCCAGGACTAGATGGGGACCTTGAAGAGAGGGGCTGGTGGCTCTGGGGCAGGATGAACTGGAGCCACATGTATCACCTGGACTCTGTCTTGTCCCTGTCACACCCCAAGGGCCCAGAATGGGAGGCAGTCTGCACTCCTTCCCCAGAGGCAGGGACTGAGTCTGCCAAATGAATAATCCCAGGGCAGGAAGACACTTTCGGGGTGCTGAACCCTAGAACGGAGACTTTAGAAGGCTCAGCACCTAAAGAACCAGCTCTGAAGCCCTAGGTCCTGACTGGCAGACTCTTCTCTCTAAAAGGTATAAAATGAGAGGCCTGAGGCAGCAGCCTCCTTATAAGTTACTGTTAAGTAAAAAGAGCTGTAGGAATGCAAGGTGGTGTTTATTTTCAGAGGAGTCCCCAAGCCATTTTCTTACTAAAGCCTCATATAGTCTAGAAAGTATATTTGGCTCTACTTTCATCATTTTCCAGGAGAGGAAAAGTAGGCCCAGAGAGGTTAAGAGACTTGCCAAAGTCACACAGCTTGTGACTGGTAAAGTCAGGACCAGAATCCAGCTTTCCTTTCCCCTGTGCTATATGCCTGCCTCTAACTGTGGTGGGAGGAGGTTGCTGGATGTGTTTCAGGGGGGCTTGTTAGGAGCAGGGTTCGGGGCAATAAGGAGGATATCTCCACTTAAAACAAACCTGCCCTGCCCTTCCAGGTACCTGACTACCTAGACCACATCAAAAAGCCCATGGACTTTTTCACCATGAAGCAGAACTTGGAGGCTTACCGCTACCTGAATTTTGATGATTTTGAGGAGGACTTCAACCTCATCGTCAGCAACTGCCTCAAGTATAACGCCAAGGACACCATCTTCTACCGGGCAGCAGTGCGGCTTCGTGAGCAGGGTGGTGCTGTGCTCCGCCAGGCCCGGCGCCAGGCAGAAAAAATGGGCATTGACTTTGAGACGGGCATGCATATCCCCCACAGCCTGGCTGGAGATGAGGCCACACACCACACTGAAGATGGTGGGTGATATATCACACACACATATAAGAGGCCAATGCCGGGGATGGACAGCTTTCCAAAAGTCCCCTCCTGGGAGCAGGCAGTGTAGGCAGAAAGCAGCTAGGCTGAGCAGTGGCAAGCTATCCCCAGGAATGCTCCCCAAGAAGCCAGACTGGGTGAATGGATAGCAGTGCCCGCCATTCCACATCTTGGTGCTGCTATTTTACAGCTGTTCCTGGTGAGAAGCCCAGGGGGGATGAGTGGGTTTCTTGCTGCCTGCCCAGGTTCAAGGGGCCCTGAGGGCTGCCCTGAGTCTGACCTTTCCCCTCCAACCCTACCCCTAGCAGCCGAGGAAGAGCGGCTGGTCTTGCTGGAGAACCAGAAGCACCTGCCAGTGGAAGAACAGCTAAAGCTGCTTCTGGAGCGGCTGGACGAAGTGAATGCCAGCAAGCAGAGTGTGGGCCGCTCACGGCGTGCAAAGATGATCAAGAAAGAGATGACGGCACTGCGGCGGAAGCTTGCCCATCAGCGAGAGACGGGACGTGATGGCCCTGAGCGGCATGGCCCCTCGAGCCGGGGTAGTCTGACACCCCACCCGGCAGCCTGTGACAAGGATGGGCAGACAGATAGTGCGGCAGAGGAGAGCAGCAGCCAGGAGACAAGCAAAGGTCTGAATCCCATGGCAAGGTGGACCCCAAAGCAAGTCAGACTTTGGCTCTGCAGCACACACTCAACCCCTGCCATTCCCCAGGCAGAGGTCCCTCCTACACAGCTAGCTGTACTTTCTCCCTCATTCCCCAATCAGGGGCCTCTTAGCTGCCTCTCTGGCTATTTGTATAAGAGTTAATCTTCCAAATTCCAAGCCCCTAAAATGATCTCCCCAACGTTAGCTGGAGTAATGGTCCTATATGCCCAGGGCATGACCCTGGATATCTACCCTTCTCAAATCAGGCCCCTCACCAACTCTCCTTCTTTCTTTCTCTGCTCCAGGCCTGGGTCCCAACATGTCCTCAACCCCCGCACATGAGGTGGGCAGGAGAACCTCAGTTCTGTTCTCCAAAAAGAACCCGAAGACAGCTGGACCGCCCAAGAGGCCGGGCCGGCCCCCCAAAAACCGGGAGAGCCAGATGACCCCCAGCCACGGAGGCAGTCCTGTGGGGCCCCCCCAGCTCCCCATCATGAGTTCCCTGCGTCAGCGCAAGCGGGGTAGGAGCCCCCGGCCCAGTTCGAGCTCAGACAGCGACAGTGATAAGTCCACAGAAGACCCCCCAATGGGTGAGCCTTACCATCACCCAGCCCCCCAAGAGAGTGAGCAAAGCTGCCATTCTTCCCAGCATACTCCCAGTTACCCCTTTATTTGCCCATAAAAGAGCGAGCTAGAAGGGTCCTTAGGAATCCTTTAACTCCACTCACTCATCTTACAGTTGGGAAAACTGAGGCCCAGAGACACTACGACCCAGCTAAAGTCCCATCCAGGGCCCCCTGCCTCCATTGTATCACTTTACCTTTTCTCTTCTCACCTTCCTTGGGGATCTCCTGCCCTTTAAGCCATTTGTGTCCTAAAGCCAGTAACTGCCGAGGGAAGCAAGGGGTGGAGCAGGGCTGTGGCCAACTGTGGTAGACACTGCCCAGAGCTAGCTCTGCTGGCCAAGGTTGGAGGAATTTTCCAGCACAGAAGGGGAACCCAAGCTCCAAGTCCCTCTTACCTCCATGTCATCTCTGATCTACATCTTCCTGACCGGTTCCTTCCCTCCTCCCCTTCCCTTCAACCAAGACTTACCAG
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AGGAACTGTGACCAAGTTGGGGTACTGTGTCCAGTTCCCTGTGGGCTCTGGGAACTAGCGCCAGGGGGACGAAAACCAAAATTTGCAACTGTAGTTTCCAGTGTCAGAGGGCTTAGACTCTTTCCTCCTTTAAGCTAGCCCTCAAACCAGGATCAGCATGGAATGTTCAATGAAAAGATGTTGTTCCTATGTGTTTATGTATTCATTCAACAAACACATACCAAGCATTTATTCTGCCAGGCCTTGGGGACACACAGATTGAGGCACTACCAATAAATTACTGTGCTCCCTCTTTTGGCTTGACCTGAGTTTCCTGGGCTCTCTTCTCCCTGTTGACCTTTCCTCTGGCTTTCTAATCATCCTCTGATCTTCGTTTTGCCTCTACAGAGAGATTCTGAGGATAAGAACTGGGCCCTTAAAGAACAGCTCAAGTCCTGGCAGCGGCTCCGGCATGACTTGGAGCGAGCTCGGCTGCTCGTGGAATTGATCCGCAAGCGGGAAAAACTCAAAAGGGAGACGGTGAGTGCTCCTGGGCCAGCCCTATTTTATAAAAGAAAAAACAAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGAGGGGTTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGACCCAGGAGAAGGAATAGCGTGTGTACCCCAGCCAGATAGCAGCAGGGCTGACGCTGGAGTCAGGTCTCCTGGTGCTCGGTGTGCTTTTAGTTCTGCTGGAAGCAGAATGTCACAGGAGCGTATGAACAGAATCCTCAGTTATGTGACATAGGTAGCTGGTGCTGGTAGTTCAAGAAAGGGGGAAGCCAGAATTGTTGGTGCAAGTTTCCCTGGGTGGAGCCTCATAGAAGGTAGACCTGTATGAGTACACCCAGCTGTGAGGGTGGGAAAGAAGGCGGGTTCCCAGGCCAGCTGGGACCATATCCTCAGACCTCTTTGCCACTGAACTGGCCGAGGCCTGGCTGATCAGGCCTTTTTCTATGTTAGATCAAGGTTCAGCAGATTGCCATGGAGATGCAGCTGACTCCTTTCCTCATCCTCCTTCGCAAAACCTTGGAGCAGCTCCAAGAGAAGGACACAGGCAACATCTTCAGCGAGCCGGTCCCTCTGTCTGAGGTAACCGAATTGGACGAAGTAAGAATCCCTTCCCCTCACTCCACCTTCTCTCTGTTCCTCTCCCAGTTGGACCCCTGCTGCAGGTCTGGGCCAGGACTAGATGGGGACCTTGAAGAGAGGGGCTGGTGGCTCTGGGGCAGGATGAACTGGAGCCACATGTATCACCTGGACTCTGTCTTGTCCCTGTCACACCCCAAGGGCCCAGAATGGGAGGCAGTCTGCACTCCTTCCCCAGAGGCAGGGACTGAGTCTGCCAAATGAATAATCCCAGGGCAGGAAGACACTTTCGGGGTGCTGAACCCTAGAACGGAGACTTTAGAAGGCTCAGCACCTAAAGAACCAGCTCTGAAGCCCTAGGTCCTGACTGGCAGACTCTTCTCTCTAAAAGGTATAAAATGAGAGGCCTGAGGCAGCAGCCTCCTTATAAGTTACTGTTAAGTAAAAAGAGCTGTAGGAATGCAAGGTGGTGTTTATTTTCAGAGGAGTCCCCAAGCCATTTTCTTACTAAAGCCTCATATAGTCTAGAAAGTATATTTGGCTCTACTTTCATCATTTTCCAGGAGAGGAAAAGTAGGCCCAGAGAGGTTAAGAGACTTGCCAAAGTCACACAGCTTGTGACTGGTAAAGTCAGGACCAGAATCCAGCTTTCCTTTCCCCTGTGCTATATGCCTGCCTCTAACTGTGGTGGGAGGAGGTTGCTGGATGTGTTTCAGGGGGGCTTGTTAGGAGCAGGGTTCGGGGCAATAAGGAGGATATCTCCACTTAAAACAAACCTGCCCTGCCCTTCCAGGTACCTGACTACCTAGACCACATCAGAAAGCCCATGGACTTTTTCACCATGAAGCAGAACTTGGAGGCTTACCGCTACCTGAATTTTGATGATTTTGAGGAGGACTTCAACCTCATCGTCAGCAACTGCCTCAAGTATAACGCCAAGGACACCATCTTCTACCGGGCAGCAGTGCGGCTTCGTGAGCAGGGTGGTGCTGTGCTCCGCCAGGCCCGGCGCCAGGCAGAAAAAATGGGCATTGACTTTGAGACGGGCATGCATATCCCCCACAGCCTGGCTGGAGATGAGGCCACACACCACACTGAAGATGGTGGGTGATATATCACACACACATATAAGAGGCCAATGCCGGGGATGGACAGCTTTCCAAAAGTCCCCTCCTGGGAGCAGGCAGTGTAGGCAGAAAGCAGCTAGGCTGAGCAGTGGCAAGCTATCCCCAGGAATGCTCCCCAAGAAGCCAGACTGGGTGAATGGATAGCAGTGCCCGCCATTCCACATCTTGGTGCTGCTATTTTACAGCTGTTCCTGGTGAGAAGCCCAGGGGGGATGAGTGGGTTTCTTGCTGCCTGCCCAGGTTCAAGGGGCCCTGAGGGCTGCCCTGAGTCTGACCTTTCCCCTCCAACCCTACCCCTAGCAGCCGAGGAAGAGCGGCTGGTCTTGCTGGAGAACCAGAAGCACCTGCCAGTGGAAGAACAGCTAAAGCTGCTTCTGGAGCGGCTGGACGAAGTGAATGCCAGCAAGCAGAGTGTGGGCCGCTCACGGCGTGCAAAGATGATCAAGAAAGAGATGACGGCACTGCGGCGGAAGCTTGCCCATCAGCGAGAGACGGGACGTGATGGCCCTGAGCGGCATGGCCCCTCGAGCCGGGGTAGTCTGACACCCCACCCGGCAGCCTGTGACAAGGATGGGCAGACAGATAGTGCGGCAGAGGAGAGCAGCAGCCAGGAGACAAGCAAAGGTCTGAATCCCATGGCAAGGTGGACCCCAAAGCAAGTCAGACTTTGGCTCTGCAGCACACACTCAACCCCTGCCATTCCCCAGGCAGAGGTCCCTCCTACACAGCTAGCTGTACTTTCTCCCTCATTCCCCAATCAGGGGCCTCTTAGCTGCCTCTCTGGCTATTTGTATAAGAGTTAATCTTCCAAATTCCAAGCCCCTAAAATGATCTCCCCAACGTTAGCTGGAGTAATGGTCCTATATGCCCAGGGCATGACCCTGGATATCTACCCTTCTCAAATCAGGCCCCTCACCAACTCTCCTTCTTTCTTTCTCTGCTCCAGGCCTGGGTCCCAACATGTCCTCAACCCCCGCACATGAGGTGGGCAGGAGAACCTCAGTTCTGTTCTCCAAAAAGAACCCGAAGACAGCTGGACCGCCCAAGAGGCCGGGCCGGCCCCCCAAAAACCGGGAGAGCCAGATGACCCCCAGCCACGGAGGCAGTCCTGTGGGGCCCCCCCAGCTCCCCATCATGAGTTCCCTGCGTCAGCGCAAGCGGGGTAGGAGCCCCCGGCCCAGTTCGAGCTCAGACAGCGACAGTGATAAGTCCACAGAAGACCCCCCAATGGGTGAGCCTTACCATCACCCAGCCCCCCAAGAGAGTGAGCAAAGCTGCCATTCTTCCCAGCATACTCCCAGTTACCCCTTTATTTGCCCATAAAAGAGCGAGCTAGAAGGGTCCTTAGGAATCCTTTAACTCCACTCACTCATCTTACAGTTGGGAAAACTGAGGCCCAGAGACACTACGACCCAGCTAAAGTCCCATCCAGGGCCCCCTGCCTCCATTGTATCACTTTACCTTTTCTCTTCTCACCTTCCTTGGGGATCTCCTGCCCTTTAAGCCATTTGTGTCCTAAAGCCAGTAACTGCCGAGGGAAGCAAGGGGTGGAGCAGGGCTGTGGCCAACTGTGGTAGACACTGCCCAGAGCTAGCTCTGCTGGCCAAGGTTGGAGGAATTTTCCAGCACAGAAGGGGAACCCAAGCTCCAAGTCCCTCTTACCTCCATGTCATCTCTGATCTACATCTTCCTGACCGGTTCCTTCCCTCCTCCCCTTCCCTTCAACCAAGACTTACCAG
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Task1_train_5924
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Consider this mutation in BRPF1 (bromodomain and PHD finger containing 1) on Chromosome 3. Is this a benign change or a disease-causing variant?
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Pathogenic; Intellectual developmental disorder with dysmorphic facies and ptosis
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AGAACCAGAAGCACCTGCCAGTGGAAGAACAGCTAAAGCTGCTTCTGGAGCGGCTGGACGAAGTGAATGCCAGCAAGCAGAGTGTGGGCCGCTCACGGCGTGCAAAGATGATCAAGAAAGAGATGACGGCACTGCGGCGGAAGCTTGCCCATCAGCGAGAGACGGGACGTGATGGCCCTGAGCGGCATGGCCCCTCGAGCCGGGGTAGTCTGACACCCCACCCGGCAGCCTGTGACAAGGATGGGCAGACAGATAGTGCGGCAGAGGAGAGCAGCAGCCAGGAGACAAGCAAAGGTCTGAATCCCATGGCAAGGTGGACCCCAAAGCAAGTCAGACTTTGGCTCTGCAGCACACACTCAACCCCTGCCATTCCCCAGGCAGAGGTCCCTCCTACACAGCTAGCTGTACTTTCTCCCTCATTCCCCAATCAGGGGCCTCTTAGCTGCCTCTCTGGCTATTTGTATAAGAGTTAATCTTCCAAATTCCAAGCCCCTAAAATGATCTCCCCAACGTTAGCTGGAGTAATGGTCCTATATGCCCAGGGCATGACCCTGGATATCTACCCTTCTCAAATCAGGCCCCTCACCAACTCTCCTTCTTTCTTTCTCTGCTCCAGGCCTGGGTCCCAACATGTCCTCAACCCCCGCACATGAGGTGGGCAGGAGAACCTCAGTTCTGTTCTCCAAAAAGAACCCGAAGACAGCTGGACCGCCCAAGAGGCCGGGCCGGCCCCCCAAAAACCGGGAGAGCCAGATGACCCCCAGCCACGGAGGCAGTCCTGTGGGGCCCCCCCAGCTCCCCATCATGAGTTCCCTGCGTCAGCGCAAGCGGGGTAGGAGCCCCCGGCCCAGTTCGAGCTCAGACAGCGACAGTGATAAGTCCACAGAAGACCCCCCAATGGGTGAGCCTTACCATCACCCAGCCCCCCAAGAGAGTGAGCAAAGCTGCCATTCTTCCCAGCATACTCCCAGTTACCCCTTTATTTGCCCATAAAAGAGCGAGCTAGAAGGGTCCTTAGGAATCCTTTAACTCCACTCACTCATCTTACAGTTGGGAAAACTGAGGCCCAGAGACACTACGACCCAGCTAAAGTCCCATCCAGGGCCCCCTGCCTCCATTGTATCACTTTACCTTTTCTCTTCTCACCTTCCTTGGGGATCTCCTGCCCTTTAAGCCATTTGTGTCCTAAAGCCAGTAACTGCCGAGGGAAGCAAGGGGTGGAGCAGGGCTGTGGCCAACTGTGGTAGACACTGCCCAGAGCTAGCTCTGCTGGCCAAGGTTGGAGGAATTTTCCAGCACAGAAGGGGAACCCAAGCTCCAAGTCCCTCTTACCTCCATGTCATCTCTGATCTACATCTTCCTGACCGGTTCCTTCCCTCCTCCCCTTCCCTTCAACCAAGACTTACCAGCCAATGGCTTCAGCGGTGGAAACCAACCAGTGAAGAAGAGTTTCTTGGTATACCGTAATGACTGCAGCCTTCCCCGGAGCAGCTCAGACTCTGAGTCCAGCAGCAGTAGCAGTAGCAGCGCTGCTTCAGACCGGACCAGGTACCAGCCCTCCAGATCGAGGCCAACCTCAGGGGATGCCCTTCCAGGGCTCTTGGGCCTGTGTAGGTTTCCCTGTTGGAAGTGGGGTGGCAGCCATCTCAGTCTAGATTAAGATGGCTCAAACTCAAGGTTCTCTGCTAAATAAATAAATCAGTGTTACCATTAATAGAACAGAGAGAACCATCCTGGATTAAGGTGATGATTAGAGTATGCACTCCTGCCGCCACTGCTCAGGCTAACCCACCTCTGTTAGGTCATCAGCCTAGCCCCTGTGGGTGTTTGAATTTGAAATTCCTCATATAGCCTCTGCTTTCCAAAAGTCTCAGACCCTGCGGGCTTTAAGAGCTGAGGGCACATACCATGCTGTTCCCCATTCTTCCCCTCCTTTGAGCTGAGCTCCCATTGTCTTGTCCACAGCACAACGCCCTCAAAACAAGGCCGGGGCAAACCCTCCTTCTCTCGGGGCACTTTCCCAGAGGACAGCAGTGAGGATACCTCAGGCACTGAGAATGAGGCCTACTCCGTGGGCACTGGCCGCGGCGTGGGCCACAGCAGTAAGTTCCCTTGCCCAAGGCCAGGGATGCTGGGGACCCAGTGTCAGGGTCTCGCCAGCCCCCCAGCTGCTGATCCACCCCCTCTCCCCCATTCCTGTGAAGTGGTAAGGAAGAGTCTGGGCCGGGGAGCTGGCTGGCTGTCAGAGGATGAGGACTCCCCGCTGGATGCTCTGGACCTCGTGTGGGCCAAATGCCGAGGCTATCCATCATACCCAGCTCTGGTATGCTTGCTTCTGTTACACTTCTTGCTTTCCAATCCCAGAATACAGATTCACAGTTAGCAGACTTTTCCTACTCCCTGCTGAGCTGTGGGGCACAGAGTTTCTTGGTAAGGTAGACTGGTGGGCAGATACAGCTTGAGTACCACTTAGAGGCTCCCACTCAGTTTCTCCATCTCTCCCTTTTGCTTCTCTTTGCTCCTTGGGCTCTGAAATAATTTAGCATGGAAAGAAGCTGAGGGTCAGCATTGCAGTTCTAGTAGCATGATACCCTCTCTGTCCCCACTTCAGACATACTCTCTAAGTTCTTGAGGAGGAAAAGCCTTGGGAGGACATGGACTGAACCAAACTGGGCTCTTATTATATCCTCAGATCATTGATCCAAAGATGCCCCGAGAAGGTATGTTCCACCATGGGGTTCCCATCCCTGTGCCCCCACTGGAGGTGCTGAAACTTGGGGAGCAGATGACCCAGGAAGCCCGAGAGCATCTCTACCTCGTCCTCTTCTTTGACAACAAACGAACCTGGTAAGGAGGGGAGCATTTGGTGTGACTCACAGCCACAGATGCAGCCCTGTGTGGTATGGGGGCAGACTGCCAGGAAACTCCAGCAACAGGCAGACTGGGCTATCACAAGTCAGTGGGGGAGGGACTTAGAACAGTTTTTTGAGCGAAAGGGTTGTGTCGACCATGTGTCTGAGAGGCTGAGTGGGCACTAGTGGACACAGCTATAGCTAGAAACCAAAGGACCATCAGAGACTTATGACAAATATAGAGGTGGCTCCCACCCAGACTCAGATGGCTTCTAGACTTAGTTTTCCCACCTCTGCCTCCACAGTGACAAAATGAGGATAAAGCAGGCATAAACATTCAGGCTCTGAATCCCTGTTCTGTCACATTTACACATGTAGTCTTTTTGTTAATTGTCTGCAGAGGATATTCAATGTCAGTAAAGTCTGCCTAGAGCCTATGGCACAGGGTAGCTATTTCTGGTGAGGTCAGGGTGCCTCCTTTTTGTACCCATAAATACCCTGTGATTACCCTCCCGCCGCCACCACACAGTATAACTGTTGACTGGGCTCTTTCATCTCTAGACCATGAACAGTCCTTTGAGGGCAGGGACCATCACAGAGTCTGGCCAGAGTGGGTGCTTGGGTGGTGTGTTTGAGTGAATAGAGGAGGAAGGCTGGTCCTTGTTCTCCCTGAGATGATTTATTTGATCTTCACCTTATCCTATAGGCAGTGGCTGCCCAGGACCAAGCTGGTTCCTCTGGGTGTGAACCAGGACCTAGACAAGGAGAAGATGCTGGAGGGCCGCAAGTCCAACATCCGCAAGTCAGTACAGATCGCCTACCACAGGGCTCTGCAGCACCGCAGCAAGGTGCAAGGCGAGCAGAGCAGTGAGACCAGCGATAGTGATTGATACTGCTCAACACAGCCCAACCTATAGTGCCCTGTGACTTCTCTCCTCCCCTTTGCTCACTGTCCTGGAGTGGCACCGGCCTCTGCACTGACTCATTTCTGGTCTTGGGGCCAGTCTCAGGGGAAGCTGGGTGGGGGAGGTCCCTCCTGCCCTAAGTGCAGCTGGACTGTACAGAACACTCCAAGGGCCAATGGCAGTTCAGCGCAAGGAGAGGGAGGGCCCACAGGTCAGAAAAAGCTCCAGAGACCTCACAGCATTGTAGGGCGGGGTGGTGGGCCAAAGTTAGGACACTGCGTAAAACAGGCCATCCCACCACCTCTACCTGCTCATGCCAGGAGAATCCATAACTGCCTA
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AGAACCAGAAGCACCTGCCAGTGGAAGAACAGCTAAAGCTGCTTCTGGAGCGGCTGGACGAAGTGAATGCCAGCAAGCAGAGTGTGGGCCGCTCACGGCGTGCAAAGATGATCAAGAAAGAGATGACGGCACTGCGGCGGAAGCTTGCCCATCAGCGAGAGACGGGACGTGATGGCCCTGAGCGGCATGGCCCCTCGAGCCGGGGTAGTCTGACACCCCACCCGGCAGCCTGTGACAAGGATGGGCAGACAGATAGTGCGGCAGAGGAGAGCAGCAGCCAGGAGACAAGCAAAGGTCTGAATCCCATGGCAAGGTGGACCCCAAAGCAAGTCAGACTTTGGCTCTGCAGCACACACTCAACCCCTGCCATTCCCCAGGCAGAGGTCCCTCCTACACAGCTAGCTGTACTTTCTCCCTCATTCCCCAATCAGGGGCCTCTTAGCTGCCTCTCTGGCTATTTGTATAAGAGTTAATCTTCCAAATTCCAAGCCCCTAAAATGATCTCCCCAACGTTAGCTGGAGTAATGGTCCTATATGCCCAGGGCATGACCCTGGATATCTACCCTTCTCAAATCAGGCCCCTCACCAACTCTCCTTCTTTCTTTCTCTGCTCCAGGCCTGGGTCCCAACATGTCCTCAACCCCCGCACATGAGGTGGGCAGGAGAACCTCAGTTCTGTTCTCCAAAAAGAACCCGAAGACAGCTGGACCGCCCAAGAGGCCGGGCCGGCCCCCCAAAAACCGGGAGAGCCAGATGACCCCCAGCCACGGAGGCAGTCCTGTGGGGCCCCCCCAGCTCCCCATCATGAGTTCCCTGCGTCAGCGCAAGCGGGGTAGGAGCCCCCGGCCCAGTTCGAGCTCAGACAGCGACAGTGATAAGTCCACAGAAGACCCCCCAATGGGTGAGCCTTACCATCACCCAGCCCCCCAAGAGAGTGAGCAAAGCTGCCATTCTTCCCAGCATACTCCCAGTTACCCCTTTATTTGCCCATAAAAGAGCGAGCTAGAAGGGTCCTTAGGAATCCTTTAACTCCACTCACTCATCTTACAGTTGGGAAAACTGAGGCCCAGAGACACTACGACCCAGCTAAAGTCCCATCCAGGGCCCCCTGCCTCCATTGTATCACTTTACCTTTTCTCTTCTCACCTTCCTTGGGGATCTCCTGCCCTTTAAGCCATTTGTGTCCTAAAGCCAGTAACTGCCGAGGGAAGCAAGGGGTGGAGCAGGGCTGTGGCCAACTGTGGTAGACACTGCCCAGAGCTAGCTCTGCTGGCCAAGGTTGGAGGAATTTTCCAGCACAGAAGGGGAACCCAAGCTCCAAGTCCCTCTTACCTCCATGTCATCTCTGATCTACATCTTCCTGACCGGTTCCTTCCCTCCTCCCCTTCCCTTCAACCAAGACTTACCAGCCAATGGCTTCAGCGGTGGAAACCAACCAGTGAAGAAGAGTTTCTTGGTATACCGTAATGACTGCAGCCTTCCCCGGAGCAGCTCAGACTCTGAGTCCAGCAGCAGTAGCAGTAGCAGCGCTGCTTCAGACCGGACCAGGTACCAGCCCTCCAGATCGAGGCCAACCTCAGGGGATGCCCTTCCAGGGCTCTTGGGCCTGTGTAGGTTTCCCTGTTGGAAGTGGGGTGGCAGCCATCTCAGTCTAGATTAAGATGGCTCAAACTCAAGGTTCTCTGCTAAATAAATAAATCAGTGTTACCATTAATAGAACAGAGAGAACCATCCTGGATTAAGGTGATGATTAGAGTATGCACTCCTGCCGCCACTGCTCAGGCTAACCCACCTCTGTTAGGTCATCAGCCTAGCCCCTGTGGGTGTTTGAATTTGAAATTCCTCATATAGCCTCTGCTTTCCAAAAGTCTCAGACCCTGCGGGCTTTAAGAGCTGAGGGCACATACCATGCTGTTCCCCATTCTTCCCCTCCTTTGAGCTGAGCTCCCATTGTCTTGTCCACAGCACAACGCCCTCAAAACAAGGCCGGGGCAAACCCTCCTTCTCTCGGGGCACTTTCCCAGAGGACAGCAGTGAGGATACCTCAGACACTGAGAATGAGGCCTACTCCGTGGGCACTGGCCGCGGCGTGGGCCACAGCAGTAAGTTCCCTTGCCCAAGGCCAGGGATGCTGGGGACCCAGTGTCAGGGTCTCGCCAGCCCCCCAGCTGCTGATCCACCCCCTCTCCCCCATTCCTGTGAAGTGGTAAGGAAGAGTCTGGGCCGGGGAGCTGGCTGGCTGTCAGAGGATGAGGACTCCCCGCTGGATGCTCTGGACCTCGTGTGGGCCAAATGCCGAGGCTATCCATCATACCCAGCTCTGGTATGCTTGCTTCTGTTACACTTCTTGCTTTCCAATCCCAGAATACAGATTCACAGTTAGCAGACTTTTCCTACTCCCTGCTGAGCTGTGGGGCACAGAGTTTCTTGGTAAGGTAGACTGGTGGGCAGATACAGCTTGAGTACCACTTAGAGGCTCCCACTCAGTTTCTCCATCTCTCCCTTTTGCTTCTCTTTGCTCCTTGGGCTCTGAAATAATTTAGCATGGAAAGAAGCTGAGGGTCAGCATTGCAGTTCTAGTAGCATGATACCCTCTCTGTCCCCACTTCAGACATACTCTCTAAGTTCTTGAGGAGGAAAAGCCTTGGGAGGACATGGACTGAACCAAACTGGGCTCTTATTATATCCTCAGATCATTGATCCAAAGATGCCCCGAGAAGGTATGTTCCACCATGGGGTTCCCATCCCTGTGCCCCCACTGGAGGTGCTGAAACTTGGGGAGCAGATGACCCAGGAAGCCCGAGAGCATCTCTACCTCGTCCTCTTCTTTGACAACAAACGAACCTGGTAAGGAGGGGAGCATTTGGTGTGACTCACAGCCACAGATGCAGCCCTGTGTGGTATGGGGGCAGACTGCCAGGAAACTCCAGCAACAGGCAGACTGGGCTATCACAAGTCAGTGGGGGAGGGACTTAGAACAGTTTTTTGAGCGAAAGGGTTGTGTCGACCATGTGTCTGAGAGGCTGAGTGGGCACTAGTGGACACAGCTATAGCTAGAAACCAAAGGACCATCAGAGACTTATGACAAATATAGAGGTGGCTCCCACCCAGACTCAGATGGCTTCTAGACTTAGTTTTCCCACCTCTGCCTCCACAGTGACAAAATGAGGATAAAGCAGGCATAAACATTCAGGCTCTGAATCCCTGTTCTGTCACATTTACACATGTAGTCTTTTTGTTAATTGTCTGCAGAGGATATTCAATGTCAGTAAAGTCTGCCTAGAGCCTATGGCACAGGGTAGCTATTTCTGGTGAGGTCAGGGTGCCTCCTTTTTGTACCCATAAATACCCTGTGATTACCCTCCCGCCGCCACCACACAGTATAACTGTTGACTGGGCTCTTTCATCTCTAGACCATGAACAGTCCTTTGAGGGCAGGGACCATCACAGAGTCTGGCCAGAGTGGGTGCTTGGGTGGTGTGTTTGAGTGAATAGAGGAGGAAGGCTGGTCCTTGTTCTCCCTGAGATGATTTATTTGATCTTCACCTTATCCTATAGGCAGTGGCTGCCCAGGACCAAGCTGGTTCCTCTGGGTGTGAACCAGGACCTAGACAAGGAGAAGATGCTGGAGGGCCGCAAGTCCAACATCCGCAAGTCAGTACAGATCGCCTACCACAGGGCTCTGCAGCACCGCAGCAAGGTGCAAGGCGAGCAGAGCAGTGAGACCAGCGATAGTGATTGATACTGCTCAACACAGCCCAACCTATAGTGCCCTGTGACTTCTCTCCTCCCCTTTGCTCACTGTCCTGGAGTGGCACCGGCCTCTGCACTGACTCATTTCTGGTCTTGGGGCCAGTCTCAGGGGAAGCTGGGTGGGGGAGGTCCCTCCTGCCCTAAGTGCAGCTGGACTGTACAGAACACTCCAAGGGCCAATGGCAGTTCAGCGCAAGGAGAGGGAGGGCCCACAGGTCAGAAAAAGCTCCAGAGACCTCACAGCATTGTAGGGCGGGGTGGTGGGCCAAAGTTAGGACACTGCGTAAAACAGGCCATCCCACCACCTCTACCTGCTCATGCCAGGAGAATCCATAACTGCCTA
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Task1_train_5925
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A genetic alteration is present in JAGN1 (jagunal homolog 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
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TGCCCAGAATGGAATGCAGTGGCATAATCATGGCTCACTGTAACCTTGAACTCCTGGTCTCAAATGATTCTCCCACCTCATCCTCCCGAGTAGCCTGGACTACAGGCACGCACCACCATGCCAGTTAATATTATTTTATTTTTTATTTTTGTAGAGACGGGAGTCTCACTATGTTGCCCAGGCTGATCTCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGGCACTGTGCCCCCACCTAGACCTATCTTTTAAAAATGCAAAACTGTGTCATTTTCCTGGTTAAACCTTTTAGTGGTTCCCCAAACCCCCTGGGATAAAGACTTAACTCTTTACTGAACCCTCCAAATGCTCCAGTCACTCTTAAGTTTCTCAGTTCTTTGAAGAGCCAAGTGCTCTCTGGATTTGGGGCCTTCACACATGCTGTTCCCTCTGCCTGAAAAGCTCTTCCGCTCCCCACCTCTTTAGCCAATTCCCACTCAGGCTTCAGACCTCAGCTCAATTGCTGCCACTCCAGAGAGACTTTCCTAACCCTCCAGGTCAGGGAGAGAGGCCTCATTTTTCCTCCCTCAGCCTCCTGTGTTTTCTTGAATTTCTTAGCTTCATGGGTACAAGTTCTTCCCCCGACTGGGCTGGGATCCCTCAGGGGAAATGGACCATGTTTATTTCTGCGTCCCCAGGTCATAGCAGAGCATCCTGGTGCATGGAAGATGCTCACTATACATGCTTTTTTCTTTCTTTTTTTCTTTATTCGGATAATATAACTTCTTTCTTTAAAGTTTCGCTTAGTATTTTGTTGTGGTAAAATGCACATAACATAAAACTTACTATGTTAATCATTTTTAAGTGTACAGTTTCCGTGGCATTAAGCACACACATATAGTTGTGCAATCAGTACCACCATCCATCTCCAGAACTTTTTTCATCTTCCCGAACTGAAGCTCTGTACCCATTAAACACTAGCTCCCCATTCTCTGTCCACCCCTCGAGCTTCTGGCAATGGTCATTCTACTTTGTCTCTACAGATAAAGTTTATTTGGAAATAATTTTTCTTTCATGGCCTTGACATTTTTGAAGAGTACAGTCCAGCTCTCTTCTAGACTGTCCCTCCGTCTGGATTTATGTCATTTCTTCATGATTAGATTCAGTTAGGTATTTTTGGCAGAAACATCATAGAAGTGATGCTGTGTCCTCAGTCTATTAAAAGAGGCACAAGATATCAGTTTATCTCATTATTGATCAAATTAACTGACTATATGTTTAAGGGAGACAAGCCAGATTTCCTCACTGAGAGATTCCCTGTTTCTCTTTGCAATAATTAAATGTGAGAAACTTATTTTGAGACAAAGTCTCACTCTGCACTCTGTCCCCCAGGCTGGAGTGCATTGGCACAATCTCGACTTACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCACCCAAGTAGCTGGGGTCACAGGAACCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTGTGAGGCTGTGTGAATGATGTGTGCTCCAGGGAAAGTCATAGAATATATCAGTTTCCCCCTCTGTAAAGTGTGGACAGAAGTATCCTAACTGATATTACAGCTTAAGAAAGTAAAAGTGTTCAAGCGGCCTCTGGGCGCCAGCAAAAGAGGCTGGGGATTAATTTCCTGCGCGCTCCACAAGAGGCGGGGCTGGGCGGGGCGGGGGCGAGAGGGAACGAGGGCGCCTGCGCGGAGAGGAGTGACCATAGAGTCGGTCCTCCAGAGACAGAGGGGCCGGAAGTTCTCTTCACGGAGCCGCGCGGCTGCGGGGGCGCAAATAGGGTCAGTGGGCCGCTTGGCGGTGTCGTTGCGGTACCAGGTCCGCGTGAGGGGTTCGGGGGTTCTGGGCAGGCACAATGGCGTCTCGAGCAGGCCCGCGAGCGGCCGGCACCGACGGCAGCGACTTTCAGCACCGGGAGCGCGTCGCCATGCACTACCAGATGAGGTATGAAGTGAGGCGAGGAGCACGGAGGCTTTCTCCCCCGCTGGAGCCTGCGGGGCTTGGGGAGCGACGCCGGCCCGGCCTCAGGGTCTTGCTCCCCAGCCAGCCCCCGCTCACCTGCCAAGTCCCCTCCTCCCGTGACGGCTTCGGGCCTGTCCCCCATCCTGGAAAGCCCCGTGGCCCCCGCGAGCTCCACCCCTTGTTCCGCCCGGTGCCTTGAGGGGATCCAGCCCCGCGTGGGCTCCCGCCCTGCGTGGGCTCCCGAGTCACGTCGATGCTGGCCCCGCTGTATCACCTTCGAAACCGAATTTCTAATTTGAGCCTCAGCTTCCTCATCTGTAGAGGGAGAGAATAATCTGCCTTTTAGGTTTTGGTGAAAGATTAATCAGTAATTCGTGTAAAGAAAGTAGCATAAGGCCTACCACGTAATATATGGTAGGTGTTATATTTTGGGCCGTTTGGGGGGATATAGACAGTAAAAGGCAGCCTTTCCTAAGGACGCCTTGCCTAAAATGAATTTTATAAACACTCCCACGTAAGGGGTATTTCTACATTCAATTACTAGTTCGACAAATACTGAGCTTCCAAACATCATACACTGCTAGACACTAGGTTATAATAGTGAGCAAAAGCAGACGTGGTCTTTGTATACATGTTATACCTTCAATAAACAATTTTATTAAAGAAAAAAAAAACTGTTCCCTGCCTTCATGGAGCTTGAAGTCTAGAGATGACTGTTTTTTTTTTCCAACCTTTCCACATTTTCTACAATAAATATTTTTAAATAAAAATTTTAAAATTTTTACTTCCTTAAATCCATTGATCTCTCCCAGAATGTTCTTCACATCTCTCTCTCCAGAGTTTTAAAGAATGACAAGCTCTTTGAACTCTCATTTGTTTCACATCTCTAGGCCCCGGCTGAAAGGGCCCTCACAACTTAAGCAGGTGTTTTCATGCCAGCCCAGAGTAGAAACATTGCCTTTAGGGATATGAGGAGGATACGTTTGGGACGTGAGAGAATTAGAAGAATAAGATAAGTATGTACTTCTTTTGGATGAAAAAATCTAGCTGGAGAAGTATGGGCGGCCTGAGTACGTTTCCTCTCTGCCAATACCTTCTCCCGCCAGACTTTAATCCTATGGTGCAGTCAGCGTCCTCTTGCTAAACACAGCTCTGAGCTACCCTTCTGCCTTTATTATTATTATTAATTTATTTATTTATTTTTGAGACGGAGTCACGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGTGCTGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTGCCTTTTTATTAGTAGTATTGTTGTTGTTTTTTTTTTTTATGGAGATGGGGTCTCATTTTGTTGCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCCTCCTGCTTCAGCCTACCAAAGTGCTTGGATTAGAGTTGTGAGCCCAGCCTCTTCTACTTTTAACTCTCATAGTCTTTGTGATTCATATCCCACTACCCCTCTCCCCCTAACAATATGTTCCTGCCACACATAACCACTTGCTTTCCTGGAACACAAATACTTGGGCCTTTTTGTCTGCATGCTCCTGCATGGGATGCCCATCTTCACTCATTCCTGAGCCTAGTTCAGATATCACCTGCCTCTAGATAGCCATCTCTGACATTCCATGCCAGGCAGAGTTGATTCCTCCTTCCTGTGATCCCATATATCTGGGAACATATATTTACTAGAACTTTTTCACTTCATTTTCTAATTACTTTTTCCTCCTCTGTTCTTTGTGTCCGGCTTCTAGG
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TGCCCAGAATGGAATGCAGTGGCATAATCATGGCTCACTGTAACCTTGAACTCCTGGTCTCAAATGATTCTCCCACCTCATCCTCCCGAGTAGCCTGGACTACAGGCACGCACCACCATGCCAGTTAATATTATTTTATTTTTTATTTTTGTAGAGACGGGAGTCTCACTATGTTGCCCAGGCTGATCTCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGGCACTGTGCCCCCACCTAGACCTATCTTTTAAAAATGCAAAACTGTGTCATTTTCCTGGTTAAACCTTTTAGTGGTTCCCCAAACCCCCTGGGATAAAGACTTAACTCTTTACTGAACCCTCCAAATGCTCCAGTCACTCTTAAGTTTCTCAGTTCTTTGAAGAGCCAAGTGCTCTCTGGATTTGGGGCCTTCACACATGCTGTTCCCTCTGCCTGAAAAGCTCTTCCGCTCCCCACCTCTTTAGCCAATTCCCACTCAGGCTTCAGACCTCAGCTCAATTGCTGCCACTCCAGAGAGACTTTCCTAACCCTCCAGGTCAGGGAGAGAGGCCTCATTTTTCCTCCCTCAGCCTCCTGTGTTTTCTTGAATTTCTTAGCTTCATGGGTACAAGTTCTTCCCCCGACTGGGCTGGGATCCCTCAGGGGAAATGGACCATGTTTATTTCTGCGTCCCCAGGTCATAGCAGAGCATCCTGGTGCATGGAAGATGCTCACTATACATGCTTTTTTCTTTCTTTTTTTCTTTATTCGGATAATATAACTTCTTTCTTTAAAGTTTCGCTTAGTATTTTGTTGTGGTAAAATGCACATAACATAAAACTTACTATGTTAATCATTTTTAAGTGTACAGTTTCCGTGGCATTAAGCACACACATATAGTTGTGCAATCAGTACCACCATCCATCTCCAGAACTTTTTTCATCTTCCCGAACTGAAGCTCTGTACCCATTAAACACTAGCTCCCCATTCTCTGTCCACCCCTCGAGCTTCTGGCAATGGTCATTCTACTTTGTCTCTACAGATAAAGTTTATTTGGAAATAATTTTTCTTTCATGGCCTTGACATTTTTGAAGAGTACAGTCCAGCTCTCTTCTAGACTGTCCCTCCGTCTGGATTTATGTCATTTCTTCATGATTAGATTCAGTTAGGTATTTTTGGCAGAAACATCATAGAAGTGATGCTGTGTCCTCAGTCTATTAAAAGAGGCACAAGATATCAGTTTATCTCATTATTGATCAAATTAACTGACTATATGTTTAAGGGAGACAAGCCAGATTTCCTCACTGAGAGATTCCCTGTTTCTCTTTGCAATAATTAAATGTGAGAAACTTATTTTGAGACAAAGTCTCACTCTGCACTCTGTCCCCCAGGCTGGAGTGCATTGGCACAATCTCGACTTACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCACCCAAGTAGCTGGGGTCACAGGAACCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTGTGAGGCTGTGTGAATGATGTGTGCTCCAGGGAAAGTCATAGAATATATCAGTTTCCCCCTCTGTAAAGTGTGGACAGAAGTATCCTAACTGATATTACAGCTTAAGAAAGTAAAAGTGTTCAAGCGGCCTCTGGGCGCCAGCAAAAGAGGCTGGGGATTAATTTCCTGCGCGCTCCACAAGAGGCGGGGCTGGGCGGGGCGGGGGCGAGAGGGAACGAGGGCGCCTGCGCGGAGAGGAGTGACCATAGAGTCGGTCCTCCAGAGACAGAGGGGCCGGAAGTTCTCTTCACGGAGCCGCGCGGCTGCGGGGGCGCAAATAGGGTCAGTGGGCCGCTTGGCGGTGTCGTTGCGGTACCAGGTCCGCGTGAGGGGTTCGGGGGTTCTGGGCAGGCACAATGGCGTCTCGAGCAGGCCCGCGAGCGGCCGGCACCGACAGCAGCGACTTTCAGCACCGGGAGCGCGTCGCCATGCACTACCAGATGAGGTATGAAGTGAGGCGAGGAGCACGGAGGCTTTCTCCCCCGCTGGAGCCTGCGGGGCTTGGGGAGCGACGCCGGCCCGGCCTCAGGGTCTTGCTCCCCAGCCAGCCCCCGCTCACCTGCCAAGTCCCCTCCTCCCGTGACGGCTTCGGGCCTGTCCCCCATCCTGGAAAGCCCCGTGGCCCCCGCGAGCTCCACCCCTTGTTCCGCCCGGTGCCTTGAGGGGATCCAGCCCCGCGTGGGCTCCCGCCCTGCGTGGGCTCCCGAGTCACGTCGATGCTGGCCCCGCTGTATCACCTTCGAAACCGAATTTCTAATTTGAGCCTCAGCTTCCTCATCTGTAGAGGGAGAGAATAATCTGCCTTTTAGGTTTTGGTGAAAGATTAATCAGTAATTCGTGTAAAGAAAGTAGCATAAGGCCTACCACGTAATATATGGTAGGTGTTATATTTTGGGCCGTTTGGGGGGATATAGACAGTAAAAGGCAGCCTTTCCTAAGGACGCCTTGCCTAAAATGAATTTTATAAACACTCCCACGTAAGGGGTATTTCTACATTCAATTACTAGTTCGACAAATACTGAGCTTCCAAACATCATACACTGCTAGACACTAGGTTATAATAGTGAGCAAAAGCAGACGTGGTCTTTGTATACATGTTATACCTTCAATAAACAATTTTATTAAAGAAAAAAAAAACTGTTCCCTGCCTTCATGGAGCTTGAAGTCTAGAGATGACTGTTTTTTTTTTCCAACCTTTCCACATTTTCTACAATAAATATTTTTAAATAAAAATTTTAAAATTTTTACTTCCTTAAATCCATTGATCTCTCCCAGAATGTTCTTCACATCTCTCTCTCCAGAGTTTTAAAGAATGACAAGCTCTTTGAACTCTCATTTGTTTCACATCTCTAGGCCCCGGCTGAAAGGGCCCTCACAACTTAAGCAGGTGTTTTCATGCCAGCCCAGAGTAGAAACATTGCCTTTAGGGATATGAGGAGGATACGTTTGGGACGTGAGAGAATTAGAAGAATAAGATAAGTATGTACTTCTTTTGGATGAAAAAATCTAGCTGGAGAAGTATGGGCGGCCTGAGTACGTTTCCTCTCTGCCAATACCTTCTCCCGCCAGACTTTAATCCTATGGTGCAGTCAGCGTCCTCTTGCTAAACACAGCTCTGAGCTACCCTTCTGCCTTTATTATTATTATTAATTTATTTATTTATTTTTGAGACGGAGTCACGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGTGCTGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTGCCTTTTTATTAGTAGTATTGTTGTTGTTTTTTTTTTTTATGGAGATGGGGTCTCATTTTGTTGCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCCTCCTGCTTCAGCCTACCAAAGTGCTTGGATTAGAGTTGTGAGCCCAGCCTCTTCTACTTTTAACTCTCATAGTCTTTGTGATTCATATCCCACTACCCCTCTCCCCCTAACAATATGTTCCTGCCACACATAACCACTTGCTTTCCTGGAACACAAATACTTGGGCCTTTTTGTCTGCATGCTCCTGCATGGGATGCCCATCTTCACTCATTCCTGAGCCTAGTTCAGATATCACCTGCCTCTAGATAGCCATCTCTGACATTCCATGCCAGGCAGAGTTGATTCCTCCTTCCTGTGATCCCATATATCTGGGAACATATATTTACTAGAACTTTTTCACTTCATTTTCTAATTACTTTTTCCTCCTCTGTTCTTTGTGTCCGGCTTCTAGG
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Task1_train_5926
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With a mutation on Chromosome 3 in gene JAGN1 (jagunal homolog 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Severe congenital neutropenia
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TGCCCAGAATGGAATGCAGTGGCATAATCATGGCTCACTGTAACCTTGAACTCCTGGTCTCAAATGATTCTCCCACCTCATCCTCCCGAGTAGCCTGGACTACAGGCACGCACCACCATGCCAGTTAATATTATTTTATTTTTTATTTTTGTAGAGACGGGAGTCTCACTATGTTGCCCAGGCTGATCTCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGGCACTGTGCCCCCACCTAGACCTATCTTTTAAAAATGCAAAACTGTGTCATTTTCCTGGTTAAACCTTTTAGTGGTTCCCCAAACCCCCTGGGATAAAGACTTAACTCTTTACTGAACCCTCCAAATGCTCCAGTCACTCTTAAGTTTCTCAGTTCTTTGAAGAGCCAAGTGCTCTCTGGATTTGGGGCCTTCACACATGCTGTTCCCTCTGCCTGAAAAGCTCTTCCGCTCCCCACCTCTTTAGCCAATTCCCACTCAGGCTTCAGACCTCAGCTCAATTGCTGCCACTCCAGAGAGACTTTCCTAACCCTCCAGGTCAGGGAGAGAGGCCTCATTTTTCCTCCCTCAGCCTCCTGTGTTTTCTTGAATTTCTTAGCTTCATGGGTACAAGTTCTTCCCCCGACTGGGCTGGGATCCCTCAGGGGAAATGGACCATGTTTATTTCTGCGTCCCCAGGTCATAGCAGAGCATCCTGGTGCATGGAAGATGCTCACTATACATGCTTTTTTCTTTCTTTTTTTCTTTATTCGGATAATATAACTTCTTTCTTTAAAGTTTCGCTTAGTATTTTGTTGTGGTAAAATGCACATAACATAAAACTTACTATGTTAATCATTTTTAAGTGTACAGTTTCCGTGGCATTAAGCACACACATATAGTTGTGCAATCAGTACCACCATCCATCTCCAGAACTTTTTTCATCTTCCCGAACTGAAGCTCTGTACCCATTAAACACTAGCTCCCCATTCTCTGTCCACCCCTCGAGCTTCTGGCAATGGTCATTCTACTTTGTCTCTACAGATAAAGTTTATTTGGAAATAATTTTTCTTTCATGGCCTTGACATTTTTGAAGAGTACAGTCCAGCTCTCTTCTAGACTGTCCCTCCGTCTGGATTTATGTCATTTCTTCATGATTAGATTCAGTTAGGTATTTTTGGCAGAAACATCATAGAAGTGATGCTGTGTCCTCAGTCTATTAAAAGAGGCACAAGATATCAGTTTATCTCATTATTGATCAAATTAACTGACTATATGTTTAAGGGAGACAAGCCAGATTTCCTCACTGAGAGATTCCCTGTTTCTCTTTGCAATAATTAAATGTGAGAAACTTATTTTGAGACAAAGTCTCACTCTGCACTCTGTCCCCCAGGCTGGAGTGCATTGGCACAATCTCGACTTACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCACCCAAGTAGCTGGGGTCACAGGAACCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTGTGAGGCTGTGTGAATGATGTGTGCTCCAGGGAAAGTCATAGAATATATCAGTTTCCCCCTCTGTAAAGTGTGGACAGAAGTATCCTAACTGATATTACAGCTTAAGAAAGTAAAAGTGTTCAAGCGGCCTCTGGGCGCCAGCAAAAGAGGCTGGGGATTAATTTCCTGCGCGCTCCACAAGAGGCGGGGCTGGGCGGGGCGGGGGCGAGAGGGAACGAGGGCGCCTGCGCGGAGAGGAGTGACCATAGAGTCGGTCCTCCAGAGACAGAGGGGCCGGAAGTTCTCTTCACGGAGCCGCGCGGCTGCGGGGGCGCAAATAGGGTCAGTGGGCCGCTTGGCGGTGTCGTTGCGGTACCAGGTCCGCGTGAGGGGTTCGGGGGTTCTGGGCAGGCACAATGGCGTCTCGAGCAGGCCCGCGAGCGGCCGGCACCGACGGCAGCGACTTTCAGCACCGGGAGCGCGTCGCCATGCACTACCAGATGAGGTATGAAGTGAGGCGAGGAGCACGGAGGCTTTCTCCCCCGCTGGAGCCTGCGGGGCTTGGGGAGCGACGCCGGCCCGGCCTCAGGGTCTTGCTCCCCAGCCAGCCCCCGCTCACCTGCCAAGTCCCCTCCTCCCGTGACGGCTTCGGGCCTGTCCCCCATCCTGGAAAGCCCCGTGGCCCCCGCGAGCTCCACCCCTTGTTCCGCCCGGTGCCTTGAGGGGATCCAGCCCCGCGTGGGCTCCCGCCCTGCGTGGGCTCCCGAGTCACGTCGATGCTGGCCCCGCTGTATCACCTTCGAAACCGAATTTCTAATTTGAGCCTCAGCTTCCTCATCTGTAGAGGGAGAGAATAATCTGCCTTTTAGGTTTTGGTGAAAGATTAATCAGTAATTCGTGTAAAGAAAGTAGCATAAGGCCTACCACGTAATATATGGTAGGTGTTATATTTTGGGCCGTTTGGGGGGATATAGACAGTAAAAGGCAGCCTTTCCTAAGGACGCCTTGCCTAAAATGAATTTTATAAACACTCCCACGTAAGGGGTATTTCTACATTCAATTACTAGTTCGACAAATACTGAGCTTCCAAACATCATACACTGCTAGACACTAGGTTATAATAGTGAGCAAAAGCAGACGTGGTCTTTGTATACATGTTATACCTTCAATAAACAATTTTATTAAAGAAAAAAAAAACTGTTCCCTGCCTTCATGGAGCTTGAAGTCTAGAGATGACTGTTTTTTTTTTCCAACCTTTCCACATTTTCTACAATAAATATTTTTAAATAAAAATTTTAAAATTTTTACTTCCTTAAATCCATTGATCTCTCCCAGAATGTTCTTCACATCTCTCTCTCCAGAGTTTTAAAGAATGACAAGCTCTTTGAACTCTCATTTGTTTCACATCTCTAGGCCCCGGCTGAAAGGGCCCTCACAACTTAAGCAGGTGTTTTCATGCCAGCCCAGAGTAGAAACATTGCCTTTAGGGATATGAGGAGGATACGTTTGGGACGTGAGAGAATTAGAAGAATAAGATAAGTATGTACTTCTTTTGGATGAAAAAATCTAGCTGGAGAAGTATGGGCGGCCTGAGTACGTTTCCTCTCTGCCAATACCTTCTCCCGCCAGACTTTAATCCTATGGTGCAGTCAGCGTCCTCTTGCTAAACACAGCTCTGAGCTACCCTTCTGCCTTTATTATTATTATTAATTTATTTATTTATTTTTGAGACGGAGTCACGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGTGCTGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTGCCTTTTTATTAGTAGTATTGTTGTTGTTTTTTTTTTTTATGGAGATGGGGTCTCATTTTGTTGCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCCTCCTGCTTCAGCCTACCAAAGTGCTTGGATTAGAGTTGTGAGCCCAGCCTCTTCTACTTTTAACTCTCATAGTCTTTGTGATTCATATCCCACTACCCCTCTCCCCCTAACAATATGTTCCTGCCACACATAACCACTTGCTTTCCTGGAACACAAATACTTGGGCCTTTTTGTCTGCATGCTCCTGCATGGGATGCCCATCTTCACTCATTCCTGAGCCTAGTTCAGATATCACCTGCCTCTAGATAGCCATCTCTGACATTCCATGCCAGGCAGAGTTGATTCCTCCTTCCTGTGATCCCATATATCTGGGAACATATATTTACTAGAACTTTTTCACTTCATTTTCTAATTACTTTTTCCTCCTCTGTTCTTTGTGTCCGGCTTCTAGG
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TGCCCAGAATGGAATGCAGTGGCATAATCATGGCTCACTGTAACCTTGAACTCCTGGTCTCAAATGATTCTCCCACCTCATCCTCCCGAGTAGCCTGGACTACAGGCACGCACCACCATGCCAGTTAATATTATTTTATTTTTTATTTTTGTAGAGACGGGAGTCTCACTATGTTGCCCAGGCTGATCTCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGGCACTGTGCCCCCACCTAGACCTATCTTTTAAAAATGCAAAACTGTGTCATTTTCCTGGTTAAACCTTTTAGTGGTTCCCCAAACCCCCTGGGATAAAGACTTAACTCTTTACTGAACCCTCCAAATGCTCCAGTCACTCTTAAGTTTCTCAGTTCTTTGAAGAGCCAAGTGCTCTCTGGATTTGGGGCCTTCACACATGCTGTTCCCTCTGCCTGAAAAGCTCTTCCGCTCCCCACCTCTTTAGCCAATTCCCACTCAGGCTTCAGACCTCAGCTCAATTGCTGCCACTCCAGAGAGACTTTCCTAACCCTCCAGGTCAGGGAGAGAGGCCTCATTTTTCCTCCCTCAGCCTCCTGTGTTTTCTTGAATTTCTTAGCTTCATGGGTACAAGTTCTTCCCCCGACTGGGCTGGGATCCCTCAGGGGAAATGGACCATGTTTATTTCTGCGTCCCCAGGTCATAGCAGAGCATCCTGGTGCATGGAAGATGCTCACTATACATGCTTTTTTCTTTCTTTTTTTCTTTATTCGGATAATATAACTTCTTTCTTTAAAGTTTCGCTTAGTATTTTGTTGTGGTAAAATGCACATAACATAAAACTTACTATGTTAATCATTTTTAAGTGTACAGTTTCCGTGGCATTAAGCACACACATATAGTTGTGCAATCAGTACCACCATCCATCTCCAGAACTTTTTTCATCTTCCCGAACTGAAGCTCTGTACCCATTAAACACTAGCTCCCCATTCTCTGTCCACCCCTCGAGCTTCTGGCAATGGTCATTCTACTTTGTCTCTACAGATAAAGTTTATTTGGAAATAATTTTTCTTTCATGGCCTTGACATTTTTGAAGAGTACAGTCCAGCTCTCTTCTAGACTGTCCCTCCGTCTGGATTTATGTCATTTCTTCATGATTAGATTCAGTTAGGTATTTTTGGCAGAAACATCATAGAAGTGATGCTGTGTCCTCAGTCTATTAAAAGAGGCACAAGATATCAGTTTATCTCATTATTGATCAAATTAACTGACTATATGTTTAAGGGAGACAAGCCAGATTTCCTCACTGAGAGATTCCCTGTTTCTCTTTGCAATAATTAAATGTGAGAAACTTATTTTGAGACAAAGTCTCACTCTGCACTCTGTCCCCCAGGCTGGAGTGCATTGGCACAATCTCGACTTACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCACCCAAGTAGCTGGGGTCACAGGAACCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTGTGAGGCTGTGTGAATGATGTGTGCTCCAGGGAAAGTCATAGAATATATCAGTTTCCCCCTCTGTAAAGTGTGGACAGAAGTATCCTAACTGATATTACAGCTTAAGAAAGTAAAAGTGTTCAAGCGGCCTCTGGGCGCCAGCAAAAGAGGCTGGGGATTAATTTCCTGCGCGCTCCACAAGAGGCGGGGCTGGGCGGGGCGGGGGCGAGAGGGAACGAGGGCGCCTGCGCGGAGAGGAGTGACCATAGAGTCGGTCCTCCAGAGACAGAGGGGCCGGAAGTTCTCTTCACGGAGCCGCGCGGCTGCGGGGGCGCAAATAGGGTCAGTGGGCCGCTTGGCGGTGTCGTTGCGGTACCAGGTCCGCGTGAGGGGTTCGGGGGTTCTGGGCAGGCACAATGGCGTCTCGAGCAGGCCCGCGAGCGGCCGGCACCGACAGCAGCGACTTTCAGCACCGGGAGCGCGTCGCCATGCACTACCAGATGAGGTATGAAGTGAGGCGAGGAGCACGGAGGCTTTCTCCCCCGCTGGAGCCTGCGGGGCTTGGGGAGCGACGCCGGCCCGGCCTCAGGGTCTTGCTCCCCAGCCAGCCCCCGCTCACCTGCCAAGTCCCCTCCTCCCGTGACGGCTTCGGGCCTGTCCCCCATCCTGGAAAGCCCCGTGGCCCCCGCGAGCTCCACCCCTTGTTCCGCCCGGTGCCTTGAGGGGATCCAGCCCCGCGTGGGCTCCCGCCCTGCGTGGGCTCCCGAGTCACGTCGATGCTGGCCCCGCTGTATCACCTTCGAAACCGAATTTCTAATTTGAGCCTCAGCTTCCTCATCTGTAGAGGGAGAGAATAATCTGCCTTTTAGGTTTTGGTGAAAGATTAATCAGTAATTCGTGTAAAGAAAGTAGCATAAGGCCTACCACGTAATATATGGTAGGTGTTATATTTTGGGCCGTTTGGGGGGATATAGACAGTAAAAGGCAGCCTTTCCTAAGGACGCCTTGCCTAAAATGAATTTTATAAACACTCCCACGTAAGGGGTATTTCTACATTCAATTACTAGTTCGACAAATACTGAGCTTCCAAACATCATACACTGCTAGACACTAGGTTATAATAGTGAGCAAAAGCAGACGTGGTCTTTGTATACATGTTATACCTTCAATAAACAATTTTATTAAAGAAAAAAAAAACTGTTCCCTGCCTTCATGGAGCTTGAAGTCTAGAGATGACTGTTTTTTTTTTCCAACCTTTCCACATTTTCTACAATAAATATTTTTAAATAAAAATTTTAAAATTTTTACTTCCTTAAATCCATTGATCTCTCCCAGAATGTTCTTCACATCTCTCTCTCCAGAGTTTTAAAGAATGACAAGCTCTTTGAACTCTCATTTGTTTCACATCTCTAGGCCCCGGCTGAAAGGGCCCTCACAACTTAAGCAGGTGTTTTCATGCCAGCCCAGAGTAGAAACATTGCCTTTAGGGATATGAGGAGGATACGTTTGGGACGTGAGAGAATTAGAAGAATAAGATAAGTATGTACTTCTTTTGGATGAAAAAATCTAGCTGGAGAAGTATGGGCGGCCTGAGTACGTTTCCTCTCTGCCAATACCTTCTCCCGCCAGACTTTAATCCTATGGTGCAGTCAGCGTCCTCTTGCTAAACACAGCTCTGAGCTACCCTTCTGCCTTTATTATTATTATTAATTTATTTATTTATTTTTGAGACGGAGTCACGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGTGCTGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTGCCTTTTTATTAGTAGTATTGTTGTTGTTTTTTTTTTTTATGGAGATGGGGTCTCATTTTGTTGCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCCTCCTGCTTCAGCCTACCAAAGTGCTTGGATTAGAGTTGTGAGCCCAGCCTCTTCTACTTTTAACTCTCATAGTCTTTGTGATTCATATCCCACTACCCCTCTCCCCCTAACAATATGTTCCTGCCACACATAACCACTTGCTTTCCTGGAACACAAATACTTGGGCCTTTTTGTCTGCATGCTCCTGCATGGGATGCCCATCTTCACTCATTCCTGAGCCTAGTTCAGATATCACCTGCCTCTAGATAGCCATCTCTGACATTCCATGCCAGGCAGAGTTGATTCCTCCTTCCTGTGATCCCATATATCTGGGAACATATATTTACTAGAACTTTTTCACTTCATTTTCTAATTACTTTTTCCTCCTCTGTTCTTTGTGTCCGGCTTCTAGG
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Task1_train_5927
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Chromosome 3 houses a mutation in gene JAGN1 (jagunal homolog 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Severe congenital neutropenia
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GCCGTTTGGGGGGATATAGACAGTAAAAGGCAGCCTTTCCTAAGGACGCCTTGCCTAAAATGAATTTTATAAACACTCCCACGTAAGGGGTATTTCTACATTCAATTACTAGTTCGACAAATACTGAGCTTCCAAACATCATACACTGCTAGACACTAGGTTATAATAGTGAGCAAAAGCAGACGTGGTCTTTGTATACATGTTATACCTTCAATAAACAATTTTATTAAAGAAAAAAAAAACTGTTCCCTGCCTTCATGGAGCTTGAAGTCTAGAGATGACTGTTTTTTTTTTCCAACCTTTCCACATTTTCTACAATAAATATTTTTAAATAAAAATTTTAAAATTTTTACTTCCTTAAATCCATTGATCTCTCCCAGAATGTTCTTCACATCTCTCTCTCCAGAGTTTTAAAGAATGACAAGCTCTTTGAACTCTCATTTGTTTCACATCTCTAGGCCCCGGCTGAAAGGGCCCTCACAACTTAAGCAGGTGTTTTCATGCCAGCCCAGAGTAGAAACATTGCCTTTAGGGATATGAGGAGGATACGTTTGGGACGTGAGAGAATTAGAAGAATAAGATAAGTATGTACTTCTTTTGGATGAAAAAATCTAGCTGGAGAAGTATGGGCGGCCTGAGTACGTTTCCTCTCTGCCAATACCTTCTCCCGCCAGACTTTAATCCTATGGTGCAGTCAGCGTCCTCTTGCTAAACACAGCTCTGAGCTACCCTTCTGCCTTTATTATTATTATTAATTTATTTATTTATTTTTGAGACGGAGTCACGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGTGCTGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTGCCTTTTTATTAGTAGTATTGTTGTTGTTTTTTTTTTTTATGGAGATGGGGTCTCATTTTGTTGCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCCTCCTGCTTCAGCCTACCAAAGTGCTTGGATTAGAGTTGTGAGCCCAGCCTCTTCTACTTTTAACTCTCATAGTCTTTGTGATTCATATCCCACTACCCCTCTCCCCCTAACAATATGTTCCTGCCACACATAACCACTTGCTTTCCTGGAACACAAATACTTGGGCCTTTTTGTCTGCATGCTCCTGCATGGGATGCCCATCTTCACTCATTCCTGAGCCTAGTTCAGATATCACCTGCCTCTAGATAGCCATCTCTGACATTCCATGCCAGGCAGAGTTGATTCCTCCTTCCTGTGATCCCATATATCTGGGAACATATATTTACTAGAACTTTTTCACTTCATTTTCTAATTACTTTTTCCTCCTCTGTTCTTTGTGTCCGGCTTCTAGGCTGTTTTATTCAAATTTGTATCCCAGTGTCCAGTACAGTTGTCTGGCATATAGTTGGTGGTAAGAAAAATTTGAAAGATACTTCTCCCTCTGCTCTGCCCCACAGTGTGACTCTCAAGTATGAAATCAAGAAGCTGATCTACGTACATCTGGTCATATGGCTGCTGCTGGTTGCTAAGATGAGCGTGGGACACCTGAGGCTCTTGTCACATGATCAGGTGGCCATGCCCTATCAGTGGGAATACCCGTATTTGCTGAGCATTTTGCCCTCTCTCTTGGGCCTTCTCTCCTTTCCCCGCAACAACATTAGCTACCTGGTGCTCTCCATGATCAGCATGGGACTCTTTTCCATCGCTCCACTCATTTATGGCAGCATGGAGATGTTCCCTGCTGCACAGCAGCTCTACCGCCATGGCAAGGCCTACCGTTTCCTCTTTGGTTTTTCTGCCGTTTCCATCATGTACCTGGTGTTGGTGTTGGCAGTGCAAGTGCATGCCTGGCAGTTGTACTACAGCAAGAAGCTCCTAGACTCTTGGTTCACCAGCACACAGGAGAAGAAGCATAAATGAAGCCTCTTTGGGGTGAAGCCTGGACATCCCATCGAATGAAAGGACACTAGTACAGCGGTTCCAAAATCCCTTCTGGTGATTTTAGCAGCTGTGATGTTGGTACCTGGTGCAGACCAGGCCAAAGTTCTGGAAAGCTCCTTTTGCCATCTGCTGAGGTGGCAAAACTATAATTTATTCCTGGTTGGCTAGAACTGGGTGACCAACAGCTATGAAACAAATTTCAGCTGTTTGAAGTTGAACTTTGAGGTTTTTCTTTAAGAATGAGCTTCGTCCTTGCCTCTACTCGGTCATTCTCCCCATTTCCATCCATTACCCCTTAGCCATTGAGACTAAAGGAAATAGGGAATAAATCAAATTACTTCATCTCTAGGTCACGGGTCAGGAAACATTTGGGCAGCTGCTCCCTTGGCAGGCTGTGGTCTCCTCTGCAAAGCATTTTAATTAAAAACCTCAATAAAGATGGCCCTGCCCACACTGTGCCTTGTGTTTGGGGCTTGATAGAGTGTGAAAGGTGTGTTGCTTGAAAGGTGTGGCCTTAGACACTAGGAGATGATGGGTAGAAGCTCCTTGAGAAACCTAGCAGTGGCCATAGAGAAGTAGACTGGGTATGGGGAACCTAAGTCATAGTTGTAACCTACAGCTGATTGGTAAGAACTATGGGCCAGACATTTAATCTCTCCATCTATGAAATAGTCCATTCTCATTTATCTACCTTAGGTTATGGGCTCTTCTTTTAGTTGGATATTCACATTTATCTTTCAGTGTTAACTGGGTATCAGTTATGAGTCTACTACTGTATAATGGCATCCAAAAGAATTTTAAAGTACCTCGGTTTATAGGGATTTACAATTCAGTAGAAACTTGTTATTCATGTGAAACAGTGAACATAATATCTAATGATGTGGAGCAAGTACATTAAAAACAGGAAGGAAGAGATCTGTGATTAAACTAAAGGCCCTTTCACACCTAAAATTCTGGCAGTATTTATTGCATGAAAGATAATGTGTCTCTTTGCACTTGATTTTATTGTCTCTGGATGATGCCCAGATCTGTAACTGCAGAGCTCTGCCCTCTCCAGAGATGTAGTCATTATTTTGTTCTAGAAACATTGTGTATGTAGTTAGTCATTACTGAGTCACTTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTGCCTCAACCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCTAGGATGCTCTCGATCTCCTGACCTCATGATCCGCCCTCCTCAACCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGGCAGTGTTTCATTTCCCTCACCCAGGCTGGAATGCAGTAGCGCCATCTTGGCTCGCCTCTACCTACCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCTCAAAGTGCTTGTGTTACAGGTGTGAGCCATCGCGCCTGGCTGGCAGTACTTACAACTCTAAAACCTCTTCCTCTAGATGTCCTAATTATCATCTCAAAATAAGTATGTCCCAAACAGACCTTTGTGTTTCTGCCTCATACCCATTCCTCTTCCTGCATCCCTTTGTTCAAGTGAGTATATACCAAGAGTACAGCTCTGGATTATCTGTTCCATGATCATTAAGTCCCTACTATGATCTTTGTTGCAACTTAAATGCCTTAAGCTCTGAGGTTTCCAAAGTGGTCCCAATCCACCAGTCCTGCATTATCTCCCAATACCCCTAGTCTCATGCTGTCTTAGTCAACTAAACCTCTTATGGATCCCCATGTAGGTTTCGTGGTTTCCCAGTTTCCTTTGCTTAAAAATTTCCC
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GCCGTTTGGGGGGATATAGACAGTAAAAGGCAGCCTTTCCTAAGGACGCCTTGCCTAAAATGAATTTTATAAACACTCCCACGTAAGGGGTATTTCTACATTCAATTACTAGTTCGACAAATACTGAGCTTCCAAACATCATACACTGCTAGACACTAGGTTATAATAGTGAGCAAAAGCAGACGTGGTCTTTGTATACATGTTATACCTTCAATAAACAATTTTATTAAAGAAAAAAAAAACTGTTCCCTGCCTTCATGGAGCTTGAAGTCTAGAGATGACTGTTTTTTTTTTCCAACCTTTCCACATTTTCTACAATAAATATTTTTAAATAAAAATTTTAAAATTTTTACTTCCTTAAATCCATTGATCTCTCCCAGAATGTTCTTCACATCTCTCTCTCCAGAGTTTTAAAGAATGACAAGCTCTTTGAACTCTCATTTGTTTCACATCTCTAGGCCCCGGCTGAAAGGGCCCTCACAACTTAAGCAGGTGTTTTCATGCCAGCCCAGAGTAGAAACATTGCCTTTAGGGATATGAGGAGGATACGTTTGGGACGTGAGAGAATTAGAAGAATAAGATAAGTATGTACTTCTTTTGGATGAAAAAATCTAGCTGGAGAAGTATGGGCGGCCTGAGTACGTTTCCTCTCTGCCAATACCTTCTCCCGCCAGACTTTAATCCTATGGTGCAGTCAGCGTCCTCTTGCTAAACACAGCTCTGAGCTACCCTTCTGCCTTTATTATTATTATTAATTTATTTATTTATTTTTGAGACGGAGTCACGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGTGCTGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTGCCTTTTTATTAGTAGTATTGTTGTTGTTTTTTTTTTTTATGGAGATGGGGTCTCATTTTGTTGCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCCTCCTGCTTCAGCCTACCAAAGTGCTTGGATTAGAGTTGTGAGCCCAGCCTCTTCTACTTTTAACTCTCATAGTCTTTGTGATTCATATCCCACTACCCCTCTCCCCCTAACAATATGTTCCTGCCACACATAACCACTTGCTTTCCTGGAACACAAATACTTGGGCCTTTTTGTCTGCATGCTCCTGCATGGGATGCCCATCTTCACTCATTCCTGAGCCTAGTTCAGATATCACCTGCCTCTAGATAGCCATCTCTGACATTCCATGCCAGGCAGAGTTGATTCCTCCTTCCTGTGATCCCATATATCTGGGAACATATATTTACTAGAACTTTTTCACTTCATTTTCTAATTACTTTTTCCTCCTCTGTTCTTTGTGTCCGGCTTCTAGGCTGTTTTATTCAAATTTGTATCCCAGTGTCCAGTACAGTTGTCTGGCATATAGTTGGTGGTAAGAAAAATTTGAAAGATACTTCTCCCTCTGCTCTGCCCCACAGTGTGACTCTCAAGTATGAAATCAAGAAGCTGATCTACGTACATCTGGTCATATGGCTGCTGCTGGTTGCTAAGATGAGCGTGGGACACCTGAGGCTCTTGTCACATGATCAGGTGGCCATGCCCTATCAGTGGGAATACCCGTATTTGCTGAGCATTTTGCCCTCTCTCTTGGGCCTTCTCTCCTTTCCCCGCAACAACATTAGCTACCTGGTGCTCTCCATGATCAGCATGGGACTCTTTTCCATCGCTCCACTCATTTATGGCAGCATGGAGATGTTCCCTGCTGCACAGCAGCTCTACCGCCATGGCAAGGCCTACCGTTTCCTCTTTGGTTTTTCTGCCGTTTCCATCATGTACCTGGTGTTGGTGTTGGCAGTGCAAGTGCATGCCTGGCGGTTGTACTACAGCAAGAAGCTCCTAGACTCTTGGTTCACCAGCACACAGGAGAAGAAGCATAAATGAAGCCTCTTTGGGGTGAAGCCTGGACATCCCATCGAATGAAAGGACACTAGTACAGCGGTTCCAAAATCCCTTCTGGTGATTTTAGCAGCTGTGATGTTGGTACCTGGTGCAGACCAGGCCAAAGTTCTGGAAAGCTCCTTTTGCCATCTGCTGAGGTGGCAAAACTATAATTTATTCCTGGTTGGCTAGAACTGGGTGACCAACAGCTATGAAACAAATTTCAGCTGTTTGAAGTTGAACTTTGAGGTTTTTCTTTAAGAATGAGCTTCGTCCTTGCCTCTACTCGGTCATTCTCCCCATTTCCATCCATTACCCCTTAGCCATTGAGACTAAAGGAAATAGGGAATAAATCAAATTACTTCATCTCTAGGTCACGGGTCAGGAAACATTTGGGCAGCTGCTCCCTTGGCAGGCTGTGGTCTCCTCTGCAAAGCATTTTAATTAAAAACCTCAATAAAGATGGCCCTGCCCACACTGTGCCTTGTGTTTGGGGCTTGATAGAGTGTGAAAGGTGTGTTGCTTGAAAGGTGTGGCCTTAGACACTAGGAGATGATGGGTAGAAGCTCCTTGAGAAACCTAGCAGTGGCCATAGAGAAGTAGACTGGGTATGGGGAACCTAAGTCATAGTTGTAACCTACAGCTGATTGGTAAGAACTATGGGCCAGACATTTAATCTCTCCATCTATGAAATAGTCCATTCTCATTTATCTACCTTAGGTTATGGGCTCTTCTTTTAGTTGGATATTCACATTTATCTTTCAGTGTTAACTGGGTATCAGTTATGAGTCTACTACTGTATAATGGCATCCAAAAGAATTTTAAAGTACCTCGGTTTATAGGGATTTACAATTCAGTAGAAACTTGTTATTCATGTGAAACAGTGAACATAATATCTAATGATGTGGAGCAAGTACATTAAAAACAGGAAGGAAGAGATCTGTGATTAAACTAAAGGCCCTTTCACACCTAAAATTCTGGCAGTATTTATTGCATGAAAGATAATGTGTCTCTTTGCACTTGATTTTATTGTCTCTGGATGATGCCCAGATCTGTAACTGCAGAGCTCTGCCCTCTCCAGAGATGTAGTCATTATTTTGTTCTAGAAACATTGTGTATGTAGTTAGTCATTACTGAGTCACTTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTGCCTCAACCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCTAGGATGCTCTCGATCTCCTGACCTCATGATCCGCCCTCCTCAACCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGGCAGTGTTTCATTTCCCTCACCCAGGCTGGAATGCAGTAGCGCCATCTTGGCTCGCCTCTACCTACCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCTCAAAGTGCTTGTGTTACAGGTGTGAGCCATCGCGCCTGGCTGGCAGTACTTACAACTCTAAAACCTCTTCCTCTAGATGTCCTAATTATCATCTCAAAATAAGTATGTCCCAAACAGACCTTTGTGTTTCTGCCTCATACCCATTCCTCTTCCTGCATCCCTTTGTTCAAGTGAGTATATACCAAGAGTACAGCTCTGGATTATCTGTTCCATGATCATTAAGTCCCTACTATGATCTTTGTTGCAACTTAAATGCCTTAAGCTCTGAGGTTTCCAAAGTGGTCCCAATCCACCAGTCCTGCATTATCTCCCAATACCCCTAGTCTCATGCTGTCTTAGTCAACTAAACCTCTTATGGATCCCCATGTAGGTTTCGTGGTTTCCCAGTTTCCTTTGCTTAAAAATTTCCC
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Task1_train_5928
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This sequence variant lies in FANCD2 (FA complementation group D2) on Chromosome 3. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Fanconi anemia
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GGGATAATCCCCACAGGTACCTTTCTGCGTCATTAAAATGCGGAAACGAGAAAGGCTTTTACCCTCACCCGCTTCCCGATGAACTAATCCAGGCAGTCGGCCTCATCTCACTTCTGTTGGGCTTTTCTGGAAGCCAGATGGTATCGCACGTGTTAAAGGCGGGTGCCTGGAAGCCGGACGTGCTGACAAGACTTAGTTTTTCCATCTGCAAGATGGCTGATAATGGTTATCCGTATTAACCGAAGCGGCGATAAATAAAAAGTTTAGCACAGGGCCCGGTACCTCGTAAATGTTAACCATTATTAGAAGTCATTATAATCATCAAGAGTAAGTATAGGTGGTGAAGAGCGCAGGTGCTGAAGCCAGACTCCGAGTTAGAATCCCAGTTCTGCCCGTGATGATGAGAATAATGGTACCCACCTCAAAAAGTTTTGTGGGAAATAAATGAATTATTAAATATAAAGCACTTGAAACAGTTCTTGTTAGCTTTTAGCATTTCCCCTGCACTGCGAGCTTTTTTCACTCTGAATATTCTCAGAAATTTTCCTTATGCCGGTAACTATGCTGGGCATTAGGGACATTGAGTAAGTGAGACTGGGTTCCTGCTCTCAAAGAGCCCCAGTCTAGTGTGAGGTAAGGGCCCCTAGGTATACCCTGTGGAGCAGGGAAGCTGCAGTAGCAAACTCCCTTAGGGATAGGAGGAACACTTTTCAAGGAAGATGACATTCGATTGAATGTTTAGATCTGAGTAGGAATTTCCAGGCAAATAAGAGCACTTCAGATGAAAAGAACACCTTTGTGCAAAGGCACTGAGACCACGAAGGTTCTGATTTACAAGATTAAAAGGTCATGTGATTCAGGCACTTCCCCCACCTCTGCTGTCTGATTTCTAACTCCACATCTCCTTGTTTCAGTATGAGTATCTATTTGCCTGGACTCCTCTTCTCCTACCCCTTCTACTGGCTAACTGCTGTTTCAGCCCTCAAGTCCCTGCCTAAAAATCACTTCTTCAGGCCGGGCGCGGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCGGGCGGATTATGAGGTTATGAGATCAAGACTATCCTGGGTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGGCTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATCACTTCTTTAGGCCGGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTAGCCGACATGGTGAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAAAATTCAAGGAGATTGTCCCTAAGAAATGGTCCTTGCTTCTCTTTACCACCCTTACTAGCAACTAGACTAAATTTCCTAGTAAGCCCTCATAGAACCTGTACTTTTATAGCACTTACATAACTGTAGTTCAGTACATTAAGGCTATTTGTTACCATACTGTAAATTCCCTGAGGACAGGGATCATGTCTGTCTAGTTCACAGTTGTAACCCCAGCACCTAGCACAGTCCCTAACATATAGTATTGAAATCATGAATTAAAGGACAGGTACGTTGGGGATAGATAATGGAGGGTCTTGAATCTCAGATGGAGAGTGATGGGTTTTATCCTTCAGCAACAGCGAAGTAGTCTGCCTAAAGAGGTAACTAAGACTTGAAAGGAAGGTAGTATTGGCTAGATGTAAGAGTTGAAATTTGCTTAGCACCTAGGTTTAGGTAGCATTAATATGGAGATGTGAGCCCCTCTGATTTTGGATAGAGCAGTTTTCTTTGAACAATAGCTTTAACTTCTCAGAATTTATCTTCTAGAGGGTAACTTCTGTTTCCCGATTTTGCTCTAGGAAGTAATTTAAGTGCACAAGACATTGGTCAAAATGGTTTCCAAAAGAAGACTGTCAAAATCTGAGGATAAAGAGAGCCTGACAGAAGATGCCTCCAGTAAGTATCTAGTCATTTGTTGCTTTATTTCCTGTAGCAATGTGTGAGGCATGTGAGAGATATAAAGTTCCTGCTTTTCAAGTGCTGAGAATCTTCAAAGTGTAATGAATGGAGTGCACAGAATTAAGGGAGAAATATCAGATTTGGGACTGAGTTTTTGCCTCGAATTCTGCGTATAACTTTGAGTATGACCACAGCCTCTGGACCTCAGTCTCCACATCCATAAGAGGAATTAGTGTTACAGACTTTTTCTGCTATACATCATTTAGGTGTTGAGACACAAAGACATAACATAGTCTGTACCCTTAAAAAACTTTATGGTCTTTCTTCCTCTCTTGGAAAAAAAATATTATGATCTAGACACATGCTATGTTAGTGATGTGAAAGGAAAAATACATCAAAGCAAGCAAACCAGAGGCAAAGAAACAGTGCAGACTCTGCCCATATGAGAAATAGTTGACAAAGATCCCAAGAGTTCCAGATATAAGGAGTTGATGGCTGGGTGCTATCGCTCACACCTGTAATCCAAGCACTTTGAGGGGCTAAGGTGAGAGGGTCACCTAAAGCTAGGAGTTCAAGACCAGCCTGGGTAACATAGCGAGACTCCATCTCTACAAAAAATTTTTTTAATTAGCTGGGCATGGTGGTTTGTGCCTGTGGTCCCAGCTACTGAGGAGGCTGAAGTGGAAGGATCACTTGAGCTCAGGAGGTCGAGGGTGCAATGAGTCAATAACAGCACCACTGCACTCCAGCCTAGGCGACAGAGCAAGAGAGACCATGTCTCAAAAAGGGAGTGGGGGGCGGGGAGGTTGATAGTTCATTTATTGCTCTTATCTACTCTATTAATCTTGATTTGTGTTGGTTTGTTTTTATTTTACTAGGTTTTTTGGGAACAGGTGGTGTTCGGTTACATAAATAAGTTCTCTAGTGGTGATTTCTGAAATTTTGGTGCACCTGTCACCCGAAAAGTGTATGGTGTACCCAATGTGTATTTTTTCAATCCCTAACCCCCCTTCCACCCTTTCTCTTGAGTATCCAAAGTCCATTATATCATTCTTGTTGTTGTTGTTGTTGTTGTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCAGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCAGCCACCATGCCCGGCTGATTTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGGGCTGTCTGGAACTCCTGACCTCAAGTGATCCATCCATCTCGGCCTCCCAAAGTGCAAGGATTACAGGCTTGAGCCACCACGCCTGGCCCATTATATCATTTTTTTTTTTTTTTTTGAGATGGAGTTTGGCTCTTGTTGCCCAGTCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGGCTCAGCCGCCCAAGTAGCTGGGATTACATGTACATGCCATCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCGTGTTAGTCAGGCTGGTCTCAAACTCCTGACCTCCGGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATATCGGACGTGAGCCACCATGCCTGGCCTCATTATGTCATTCTTAATGCCTTTGCATTCTCATAGCTTAGCTTCTACTGACTTGTGGATTGAAGAGTTATTTCTTACTAGGTTATTGGAAGTTAAGTCTGATTCTTGGTCAATTCAACCGAAATAGATGAAAATGCTTGCTGAACAGTGATTATAATGATAAAAATTGTGAGTCCAAAACCATGTAAGGAATAGGCTTGATTTAGAAACGGAAACTGTGGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGATCAGC
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GGGATAATCCCCACAGGTACCTTTCTGCGTCATTAAAATGCGGAAACGAGAAAGGCTTTTACCCTCACCCGCTTCCCGATGAACTAATCCAGGCAGTCGGCCTCATCTCACTTCTGTTGGGCTTTTCTGGAAGCCAGATGGTATCGCACGTGTTAAAGGCGGGTGCCTGGAAGCCGGACGTGCTGACAAGACTTAGTTTTTCCATCTGCAAGATGGCTGATAATGGTTATCCGTATTAACCGAAGCGGCGATAAATAAAAAGTTTAGCACAGGGCCCGGTACCTCGTAAATGTTAACCATTATTAGAAGTCATTATAATCATCAAGAGTAAGTATAGGTGGTGAAGAGCGCAGGTGCTGAAGCCAGACTCCGAGTTAGAATCCCAGTTCTGCCCGTGATGATGAGAATAATGGTACCCACCTCAAAAAGTTTTGTGGGAAATAAATGAATTATTAAATATAAAGCACTTGAAACAGTTCTTGTTAGCTTTTAGCATTTCCCCTGCACTGCGAGCTTTTTTCACTCTGAATATTCTCAGAAATTTTCCTTATGCCGGTAACTATGCTGGGCATTAGGGACATTGAGTAAGTGAGACTGGGTTCCTGCTCTCAAAGAGCCCCAGTCTAGTGTGAGGTAAGGGCCCCTAGGTATACCCTGTGGAGCAGGGAAGCTGCAGTAGCAAACTCCCTTAGGGATAGGAGGAACACTTTTCAAGGAAGATGACATTCGATTGAATGTTTAGATCTGAGTAGGAATTTCCAGGCAAATAAGAGCACTTCAGATGAAAAGAACACCTTTGTGCAAAGGCACTGAGACCACGAAGGTTCTGATTTACAAGATTAAAAGGTCATGTGATTCAGGCACTTCCCCCACCTCTGCTGTCTGATTTCTAACTCCACATCTCCTTGTTTCAGTATGAGTATCTATTTGCCTGGACTCCTCTTCTCCTACCCCTTCTACTGGCTAACTGCTGTTTCAGCCCTCAAGTCCCTGCCTAAAAATCACTTCTTCAGGCCGGGCGCGGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCGGGCGGATTATGAGGTTATGAGATCAAGACTATCCTGGGTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGGCTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATCACTTCTTTAGGCCGGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTAGCCGACATGGTGAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAAAATTCAAGGAGATTGTCCCTAAGAAATGGTCCTTGCTTCTCTTTACCACCCTTACTAGCAACTAGACTAAATTTCCTAGTAAGCCCTCATAGAACCTGTACTTTTATAGCACTTACATAACTGTAGTTCAGTACATTAAGGCTATTTGTTACCATACTGTAAATTCCCTGAGGACAGGGATCATGTCTGTCTAGTTCACAGTTGTAACCCCAGCACCTAGCACAGTCCCTAACATATAGTATTGAAATCATGAATTAAAGGACAGGTACGTTGGGGATAGATAATGGAGGGTCTTGAATCTCAGATGGAGAGTGATGGGTTTTATCCTTCAGCAACAGCGAAGTAGTCTGCCTAAAGAGGTAACTAAGACTTGAAAGGAAGGTAGTATTGGCTAGATGTAAGAGTTGAAATTTGCTTAGCACCTAGGTTTAGGTAGCATTAATATGGAGATGTGAGCCCCTCTGATTTTGGATAGAGCAGTTTTCTTTGAACAATAGCTTTAACTTCTCAGAATTTATCTTCTAGAGGGTAACTTCTGTTTCCCGATTTTGCTCTAGGAAGTAATTTAAGTGCACAAGACATTGGTCAAAACGGTTTCCAAAAGAAGACTGTCAAAATCTGAGGATAAAGAGAGCCTGACAGAAGATGCCTCCAGTAAGTATCTAGTCATTTGTTGCTTTATTTCCTGTAGCAATGTGTGAGGCATGTGAGAGATATAAAGTTCCTGCTTTTCAAGTGCTGAGAATCTTCAAAGTGTAATGAATGGAGTGCACAGAATTAAGGGAGAAATATCAGATTTGGGACTGAGTTTTTGCCTCGAATTCTGCGTATAACTTTGAGTATGACCACAGCCTCTGGACCTCAGTCTCCACATCCATAAGAGGAATTAGTGTTACAGACTTTTTCTGCTATACATCATTTAGGTGTTGAGACACAAAGACATAACATAGTCTGTACCCTTAAAAAACTTTATGGTCTTTCTTCCTCTCTTGGAAAAAAAATATTATGATCTAGACACATGCTATGTTAGTGATGTGAAAGGAAAAATACATCAAAGCAAGCAAACCAGAGGCAAAGAAACAGTGCAGACTCTGCCCATATGAGAAATAGTTGACAAAGATCCCAAGAGTTCCAGATATAAGGAGTTGATGGCTGGGTGCTATCGCTCACACCTGTAATCCAAGCACTTTGAGGGGCTAAGGTGAGAGGGTCACCTAAAGCTAGGAGTTCAAGACCAGCCTGGGTAACATAGCGAGACTCCATCTCTACAAAAAATTTTTTTAATTAGCTGGGCATGGTGGTTTGTGCCTGTGGTCCCAGCTACTGAGGAGGCTGAAGTGGAAGGATCACTTGAGCTCAGGAGGTCGAGGGTGCAATGAGTCAATAACAGCACCACTGCACTCCAGCCTAGGCGACAGAGCAAGAGAGACCATGTCTCAAAAAGGGAGTGGGGGGCGGGGAGGTTGATAGTTCATTTATTGCTCTTATCTACTCTATTAATCTTGATTTGTGTTGGTTTGTTTTTATTTTACTAGGTTTTTTGGGAACAGGTGGTGTTCGGTTACATAAATAAGTTCTCTAGTGGTGATTTCTGAAATTTTGGTGCACCTGTCACCCGAAAAGTGTATGGTGTACCCAATGTGTATTTTTTCAATCCCTAACCCCCCTTCCACCCTTTCTCTTGAGTATCCAAAGTCCATTATATCATTCTTGTTGTTGTTGTTGTTGTTGTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCAGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCAGCCACCATGCCCGGCTGATTTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGGGCTGTCTGGAACTCCTGACCTCAAGTGATCCATCCATCTCGGCCTCCCAAAGTGCAAGGATTACAGGCTTGAGCCACCACGCCTGGCCCATTATATCATTTTTTTTTTTTTTTTTGAGATGGAGTTTGGCTCTTGTTGCCCAGTCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGGCTCAGCCGCCCAAGTAGCTGGGATTACATGTACATGCCATCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCGTGTTAGTCAGGCTGGTCTCAAACTCCTGACCTCCGGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATATCGGACGTGAGCCACCATGCCTGGCCTCATTATGTCATTCTTAATGCCTTTGCATTCTCATAGCTTAGCTTCTACTGACTTGTGGATTGAAGAGTTATTTCTTACTAGGTTATTGGAAGTTAAGTCTGATTCTTGGTCAATTCAACCGAAATAGATGAAAATGCTTGCTGAACAGTGATTATAATGATAAAAATTGTGAGTCCAAAACCATGTAAGGAATAGGCTTGATTTAGAAACGGAAACTGTGGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGATCAGC
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Task1_train_5929
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A genetic alteration is present in FANCD2, LOC107303338 (FA complementation group D2| 3p25 FANCD2 Alu-mediated recombination region) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Fanconi anemia complementation group D2
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CTCTCATGATTATTATTCCTGGGTTTAAGTTTTAATTTTTCCTTTACTATTTGCCATATTCTTGAAAATTTTTCTATTTTCAGAAACCAGGAAGCAACCACTTTCCAAAAAGACAAAGAAATCTCATATTGCTAATGAAGTTGAAGAAAATGACAGCATCTTTGTAAAGCTTCTTAAGATATCAGGAATTATTCTTAAAACGGGAGAGAGTCAGAATCAACTAGGTAATATTTTAATCTAATTTTATTCTCTGGGTTTAATGAAATAGTTCAGGACTGAATCATGGGTTTTCTAAATAGAGAGGCAATGAAGATTAGAAATCAGAGGGCCATCCATCTTGAGACAAAGTTGAAATTGCTTTTTAGAAAATGGTACAGTCAGGCCGGGCGCGGTGGCTCACGTTTATCATCCCAGCACTTTGGGAGGCTCGAGGCAGGCGGATTGCCTGAGCTCAGGAATTTGCGACCGGCCTGGGCAACACGTCTCTACTAAAATATAAAAAATTAGCCGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTGCTTGGGCGCCTGAGTCAGGAGAATTGCTTGAACCCGGGAGGTGAAAGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACTCCATTTCCAAAAAACAAAAATGGAAAAAGAAAATGGTACAGTCTTTGGTCCTCATTACTATGTCTTAAGTAAAGCATTTCTCATCCTTTTATTAGAAAAAATATTATATATTATTTATTTTGTGTTTTCTTATGAAAAAATAAATATCCAGAAAGCAGCTGTATCAGTGTCAGAATAATTTCAGAAGAAAATTTATAAAGCCATATAAGATTCTGTTTTGGGGGAGCAGATTATTCTATCTTGCTAAGGTTATGGCAGGTCTTTTTTAGAACACTTAGTGGCTATCTGCTATCAAAGCTAAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCAAAGCTAAGTCTTTTATGTGGGTTTAGACACAACCCCATGACTCTGGGCTGGGCACAGTGGCTTATGCCTGTAATCCCAGCACTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAACGAAACAAAACAAAAAAAAACGTGTCTGTAGTCCCAGCTACTTGGGGGGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCGGAAGTTCCTGTGAGCTGAGATCACGCCACTGCACTCCAGCCTAGGCAACAGAACAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGATTTGTCTCTGAAATTAGGTTGAAAATATTTTTATTGGTTTCATCAGGCAAGAAACTTGGGTTTTTAGAGAAGGAAAACTATGGTAGGAAACTGGTGACCAGCTCTTCTTTTTTCTGCATAGCTGTGGATCAAATAGCTTTCCAAAAGAAGCTCTTTCAGACCCTGAGGAGACACCCTTCCTATCCCAAAGTATGTATTTTTCCCCTGGTATTTTTGCTTGTGCCAGCATAACTCTAGAATTTGGAATTTAAGGACACTGGTATAAAGTTGAGTGGGCTAGAATGATTTTTAACAGCAAATATTAAACTAAAAATTTTATTCTTTTTTATTTTTTAAATCTCCTTAAGATAATAGAAGAATTTGTTAGTGGCCTGGAGTCTTACATTGAGGATGAAGACAGTTTCAGGAACTGCCTTTTGTCTTGTGAGCGTCTGCAGGATGAGGAAGCCAGGTGTGGAGAGGAGGCATGGAATCTTGCTGAAATTCAGTCTGTTTTGCCAACTTCATGGGGCTGGGGAGGGAGAGCACAGTTGTTTCAAATTTCATTTTTGGTGTAAGCTCTGTTTTCCTCAGAGTTTAAACTAAGTTTAAAATTCCTAAGCTTGTGGTTATGAGCCTAACAATCAGTGTTTTACCTATGCTGACAGAATTTCAAATCTCTACCTCTCCCTTGCAAAGAGCCATCTGCTCATTTCTGTATTTCTTGTCTAACAGGGTAGTTCCTCTTTAAATATTATGTATTTAACCAATTTTATTGAGAAAAGATGATAAAAGCATTAAAACAAGGAAAGCAAAGTGGAAAACAGATTTCTTTTTTTTTTACAGTATGGGTGCATCTTATTCTAAGAGTCTCATCAAACTGCTTCTGGGGATTGACATACTGCAGGTAAGACTGTCACTTTTTCTGTGAACATTTGATGGAAGAGGTTTGTGGTGTATGCTCAAGTCTAAATAGCGGGAACACAGGATAGAGTAGGGTTAATTGGAGAATTTGGGTTTGTAGCAGCTTTAGCACAGCCCTGTTGCTGTGATGGGTTTGGTAGGGTAATGTCTGTGTTTTAAAACTGTGCTTATTAGCCTAATACATCTGGCGGCCCCATTTATTCTCTCTGCATCTGATTCCTGTTCTTAAAGCTGCATCCTGTGTATCTCTGAGTATCTGGTAATCTTTATCATATTCATATCTACATTATCTCCCATTTAGCTTTTTAGATGCTTATGTAACTTAATTTTGTCCTTTTCCTCCTCCTCGTCTCTTTTATTAAGTAGACAATACATTGATATGATTTAAATATCTCAAGTTATACAAATGTATATAGAGCAGAAAACTTCCCTCCACCCCATTCTCCATTTTTCCTCTTCTCCCCTACTGTTAATCTTTTCACACTCTTAAACTCTTCCTTTTCACTGGAAATCTTGAAGATAATTTAGTTATTTTAAGTCTAAGAGCTCCCTTGTTCCTCCTGAGAGCTCCCCTTGCAAGTTATTTGATAATCTTTTAAAGTTTGCATTTTGTGGATTAACAGTTATTGTATTTAATAATATTTTAATTATCTGATTATTTTAACGTTGCCTTGATAATCATTTTCAGTTTTTCAGAAGACAAATTAAGTCTTTGTATTCCAATAGCATATTCTAAAAATGAAGACATATTCGTGTGGATATCCTTGTAATAAGATATCAACTTTAGCAAAGTGTTTATTCCAGGAGCTCTAGTTGGAAAGAGAATTATACATTTCTTTTTTTTTTTTTTTTTTTGAGTCAGAGTCTCCTTTGTCACCCAGGCTGGAGTGGAGTGGTGCAATCTCGGCTCACTGCAATCTCTGCCTTCCCCAGGTCCAAGAGGTTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTATACATTTCTATTGTGTATTTTGAGATCATCTCCTAACTCCCTATGTCTTCTTTTTTAGCCTGCCATTATCAAAACCTTATTTGAGAAGTTGCCAGAATATTTTTTTGAAAAGTAAGTGGCGTTATTATGGAATGTTCAAAGTACCCTGATGTACTTAAGTTCTCTCTGAAAAGGTTACTCTGAAAACTATTGGTTTCTCTGAAAGTCATATTTATCATTATATTTCTTAAGTGACTACTAAAATTTTACTGGAGTGTCTTTGAAGTTTCATCTATTAATATGACTTTGTAAAAATAGATAGGATTACTGTTAAAAGTAACTATTGGCCTGGTGCAGTGGCTCACACCTGTAATCCCAACAGTTTGGGAAGCTGAGGGAGGAGGATTGCTTGAGTTCAGGAATTCAAGACCAGCCTGGGCAATGTAGTGAGACCTTGTCTGTATTTCAAAACAGAATTTTTTTTTTTTTTTTAAGTATCTGTTGCTTATGCTCAGGGATAATCCCTAGTAGAAGGATACACAATATACTGGTAATGGTAGTTGTCTCCAAAGAGGGTAGCCAGTTGGTTGGAATCAGGTATTTTCTGAATACTTTTCTTTACCTTTTAAATTTTGTA
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CTCTCATGATTATTATTCCTGGGTTTAAGTTTTAATTTTTCCTTTACTATTTGCCATATTCTTGAAAATTTTTCTATTTTCAGAAACCAGGAAGCAACCACTTTCCAAAAAGACAAAGAAATCTCATATTGCTAATGAAGTTGAAGAAAATGACAGCATCTTTGTAAAGCTTCTTAAGATATCAGGAATTATTCTTAAAACGGGAGAGAGTCAGAATCAACTAGGTAATATTTTAATCTAATTTTATTCTCTGGGTTTAATGAAATAGTTCAGGACTGAATCATGGGTTTTCTAAATAGAGAGGCAATGAAGATTAGAAATCAGAGGGCCATCCATCTTGAGACAAAGTTGAAATTGCTTTTTAGAAAATGGTACAGTCAGGCCGGGCGCGGTGGCTCACGTTTATCATCCCAGCACTTTGGGAGGCTCGAGGCAGGCGGATTGCCTGAGCTCAGGAATTTGCGACCGGCCTGGGCAACACGTCTCTACTAAAATATAAAAAATTAGCCGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTGCTTGGGCGCCTGAGTCAGGAGAATTGCTTGAACCCGGGAGGTGAAAGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACTCCATTTCCAAAAAACAAAAATGGAAAAAGAAAATGGTACAGTCTTTGGTCCTCATTACTATGTCTTAAGTAAAGCATTTCTCATCCTTTTATTAGAAAAAATATTATATATTATTTATTTTGTGTTTTCTTATGAAAAAATAAATATCCAGAAAGCAGCTGTATCAGTGTCAGAATAATTTCAGAAGAAAATTTATAAAGCCATATAAGATTCTGTTTTGGGGGAGCAGATTATTCTATCTTGCTAAGGTTATGGCAGGTCTTTTTTAGAACACTTAGTGGCTATCTGCTATCAAAGCTAAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCAAAGCTAAGTCTTTTATGTGGGTTTAGACACAACCCCATGACTCTGGGCTGGGCACAGTGGCTTATGCCTGTAATCCCAGCACTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAACGAAACAAAACAAAAAAAAACGTGTCTGTAGTCCCAGCTACTTGGGGGGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCGGAAGTTCCTGTGAGCTGAGATCACGCCACTGCACTCCAGCCTAGGCAACAGAACAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGATTTGTCTCTGAAATTAGGTTGAAAATATTTTTATTGGTTTCATCAGGCAAGAAACTTGGGTTTTTAGAGAAGGAAAACTATGGTAGGAAACTGGTGACCAGCTCTTCTTTTTTCTGCATAGCTGTGGATCAAATAGCTTTCCAAAAGAAGCTCTTTCAGACCCTGAGGAGACACCCTTCCTATCCCAAAGTATGTATTTTTCCCCTGGTATTTTTGCTTGTGCCAGCATAACTCTAGAATTTGGAATTTAAGGACACTGGTATAAAGTTGAGTGGGCTAGAATGATTTTTAACAGCAAATATTAAACTAAAAATTTTATTCTTTTTTATTTTTTAAATCTCCTTAAGATAATAGAAGAATTTGTTAGTGGCCTGGAGTCTTACATTGAGGATGAAGACAGTTTCAGGAACTGCCTTTTGTCTTGTGAGCGTCTGCAGGATGAGGAAGCCGGGTGTGGAGAGGAGGCATGGAATCTTGCTGAAATTCAGTCTGTTTTGCCAACTTCATGGGGCTGGGGAGGGAGAGCACAGTTGTTTCAAATTTCATTTTTGGTGTAAGCTCTGTTTTCCTCAGAGTTTAAACTAAGTTTAAAATTCCTAAGCTTGTGGTTATGAGCCTAACAATCAGTGTTTTACCTATGCTGACAGAATTTCAAATCTCTACCTCTCCCTTGCAAAGAGCCATCTGCTCATTTCTGTATTTCTTGTCTAACAGGGTAGTTCCTCTTTAAATATTATGTATTTAACCAATTTTATTGAGAAAAGATGATAAAAGCATTAAAACAAGGAAAGCAAAGTGGAAAACAGATTTCTTTTTTTTTTACAGTATGGGTGCATCTTATTCTAAGAGTCTCATCAAACTGCTTCTGGGGATTGACATACTGCAGGTAAGACTGTCACTTTTTCTGTGAACATTTGATGGAAGAGGTTTGTGGTGTATGCTCAAGTCTAAATAGCGGGAACACAGGATAGAGTAGGGTTAATTGGAGAATTTGGGTTTGTAGCAGCTTTAGCACAGCCCTGTTGCTGTGATGGGTTTGGTAGGGTAATGTCTGTGTTTTAAAACTGTGCTTATTAGCCTAATACATCTGGCGGCCCCATTTATTCTCTCTGCATCTGATTCCTGTTCTTAAAGCTGCATCCTGTGTATCTCTGAGTATCTGGTAATCTTTATCATATTCATATCTACATTATCTCCCATTTAGCTTTTTAGATGCTTATGTAACTTAATTTTGTCCTTTTCCTCCTCCTCGTCTCTTTTATTAAGTAGACAATACATTGATATGATTTAAATATCTCAAGTTATACAAATGTATATAGAGCAGAAAACTTCCCTCCACCCCATTCTCCATTTTTCCTCTTCTCCCCTACTGTTAATCTTTTCACACTCTTAAACTCTTCCTTTTCACTGGAAATCTTGAAGATAATTTAGTTATTTTAAGTCTAAGAGCTCCCTTGTTCCTCCTGAGAGCTCCCCTTGCAAGTTATTTGATAATCTTTTAAAGTTTGCATTTTGTGGATTAACAGTTATTGTATTTAATAATATTTTAATTATCTGATTATTTTAACGTTGCCTTGATAATCATTTTCAGTTTTTCAGAAGACAAATTAAGTCTTTGTATTCCAATAGCATATTCTAAAAATGAAGACATATTCGTGTGGATATCCTTGTAATAAGATATCAACTTTAGCAAAGTGTTTATTCCAGGAGCTCTAGTTGGAAAGAGAATTATACATTTCTTTTTTTTTTTTTTTTTTTGAGTCAGAGTCTCCTTTGTCACCCAGGCTGGAGTGGAGTGGTGCAATCTCGGCTCACTGCAATCTCTGCCTTCCCCAGGTCCAAGAGGTTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTATACATTTCTATTGTGTATTTTGAGATCATCTCCTAACTCCCTATGTCTTCTTTTTTAGCCTGCCATTATCAAAACCTTATTTGAGAAGTTGCCAGAATATTTTTTTGAAAAGTAAGTGGCGTTATTATGGAATGTTCAAAGTACCCTGATGTACTTAAGTTCTCTCTGAAAAGGTTACTCTGAAAACTATTGGTTTCTCTGAAAGTCATATTTATCATTATATTTCTTAAGTGACTACTAAAATTTTACTGGAGTGTCTTTGAAGTTTCATCTATTAATATGACTTTGTAAAAATAGATAGGATTACTGTTAAAAGTAACTATTGGCCTGGTGCAGTGGCTCACACCTGTAATCCCAACAGTTTGGGAAGCTGAGGGAGGAGGATTGCTTGAGTTCAGGAATTCAAGACCAGCCTGGGCAATGTAGTGAGACCTTGTCTGTATTTCAAAACAGAATTTTTTTTTTTTTTTTAAGTATCTGTTGCTTATGCTCAGGGATAATCCCTAGTAGAAGGATACACAATATACTGGTAATGGTAGTTGTCTCCAAAGAGGGTAGCCAGTTGGTTGGAATCAGGTATTTTCTGAATACTTTTCTTTACCTTTTAAATTTTGTA
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Task1_train_5930
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This variant affects gene FANCD2, LOC107303338 (FA complementation group D2| 3p25 FANCD2 Alu-mediated recombination region) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
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Pathogenic; Fanconi anemia
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CTCTCATGATTATTATTCCTGGGTTTAAGTTTTAATTTTTCCTTTACTATTTGCCATATTCTTGAAAATTTTTCTATTTTCAGAAACCAGGAAGCAACCACTTTCCAAAAAGACAAAGAAATCTCATATTGCTAATGAAGTTGAAGAAAATGACAGCATCTTTGTAAAGCTTCTTAAGATATCAGGAATTATTCTTAAAACGGGAGAGAGTCAGAATCAACTAGGTAATATTTTAATCTAATTTTATTCTCTGGGTTTAATGAAATAGTTCAGGACTGAATCATGGGTTTTCTAAATAGAGAGGCAATGAAGATTAGAAATCAGAGGGCCATCCATCTTGAGACAAAGTTGAAATTGCTTTTTAGAAAATGGTACAGTCAGGCCGGGCGCGGTGGCTCACGTTTATCATCCCAGCACTTTGGGAGGCTCGAGGCAGGCGGATTGCCTGAGCTCAGGAATTTGCGACCGGCCTGGGCAACACGTCTCTACTAAAATATAAAAAATTAGCCGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTGCTTGGGCGCCTGAGTCAGGAGAATTGCTTGAACCCGGGAGGTGAAAGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACTCCATTTCCAAAAAACAAAAATGGAAAAAGAAAATGGTACAGTCTTTGGTCCTCATTACTATGTCTTAAGTAAAGCATTTCTCATCCTTTTATTAGAAAAAATATTATATATTATTTATTTTGTGTTTTCTTATGAAAAAATAAATATCCAGAAAGCAGCTGTATCAGTGTCAGAATAATTTCAGAAGAAAATTTATAAAGCCATATAAGATTCTGTTTTGGGGGAGCAGATTATTCTATCTTGCTAAGGTTATGGCAGGTCTTTTTTAGAACACTTAGTGGCTATCTGCTATCAAAGCTAAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCAAAGCTAAGTCTTTTATGTGGGTTTAGACACAACCCCATGACTCTGGGCTGGGCACAGTGGCTTATGCCTGTAATCCCAGCACTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAACGAAACAAAACAAAAAAAAACGTGTCTGTAGTCCCAGCTACTTGGGGGGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCGGAAGTTCCTGTGAGCTGAGATCACGCCACTGCACTCCAGCCTAGGCAACAGAACAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGATTTGTCTCTGAAATTAGGTTGAAAATATTTTTATTGGTTTCATCAGGCAAGAAACTTGGGTTTTTAGAGAAGGAAAACTATGGTAGGAAACTGGTGACCAGCTCTTCTTTTTTCTGCATAGCTGTGGATCAAATAGCTTTCCAAAAGAAGCTCTTTCAGACCCTGAGGAGACACCCTTCCTATCCCAAAGTATGTATTTTTCCCCTGGTATTTTTGCTTGTGCCAGCATAACTCTAGAATTTGGAATTTAAGGACACTGGTATAAAGTTGAGTGGGCTAGAATGATTTTTAACAGCAAATATTAAACTAAAAATTTTATTCTTTTTTATTTTTTAAATCTCCTTAAGATAATAGAAGAATTTGTTAGTGGCCTGGAGTCTTACATTGAGGATGAAGACAGTTTCAGGAACTGCCTTTTGTCTTGTGAGCGTCTGCAGGATGAGGAAGCCAGGTGTGGAGAGGAGGCATGGAATCTTGCTGAAATTCAGTCTGTTTTGCCAACTTCATGGGGCTGGGGAGGGAGAGCACAGTTGTTTCAAATTTCATTTTTGGTGTAAGCTCTGTTTTCCTCAGAGTTTAAACTAAGTTTAAAATTCCTAAGCTTGTGGTTATGAGCCTAACAATCAGTGTTTTACCTATGCTGACAGAATTTCAAATCTCTACCTCTCCCTTGCAAAGAGCCATCTGCTCATTTCTGTATTTCTTGTCTAACAGGGTAGTTCCTCTTTAAATATTATGTATTTAACCAATTTTATTGAGAAAAGATGATAAAAGCATTAAAACAAGGAAAGCAAAGTGGAAAACAGATTTCTTTTTTTTTTACAGTATGGGTGCATCTTATTCTAAGAGTCTCATCAAACTGCTTCTGGGGATTGACATACTGCAGGTAAGACTGTCACTTTTTCTGTGAACATTTGATGGAAGAGGTTTGTGGTGTATGCTCAAGTCTAAATAGCGGGAACACAGGATAGAGTAGGGTTAATTGGAGAATTTGGGTTTGTAGCAGCTTTAGCACAGCCCTGTTGCTGTGATGGGTTTGGTAGGGTAATGTCTGTGTTTTAAAACTGTGCTTATTAGCCTAATACATCTGGCGGCCCCATTTATTCTCTCTGCATCTGATTCCTGTTCTTAAAGCTGCATCCTGTGTATCTCTGAGTATCTGGTAATCTTTATCATATTCATATCTACATTATCTCCCATTTAGCTTTTTAGATGCTTATGTAACTTAATTTTGTCCTTTTCCTCCTCCTCGTCTCTTTTATTAAGTAGACAATACATTGATATGATTTAAATATCTCAAGTTATACAAATGTATATAGAGCAGAAAACTTCCCTCCACCCCATTCTCCATTTTTCCTCTTCTCCCCTACTGTTAATCTTTTCACACTCTTAAACTCTTCCTTTTCACTGGAAATCTTGAAGATAATTTAGTTATTTTAAGTCTAAGAGCTCCCTTGTTCCTCCTGAGAGCTCCCCTTGCAAGTTATTTGATAATCTTTTAAAGTTTGCATTTTGTGGATTAACAGTTATTGTATTTAATAATATTTTAATTATCTGATTATTTTAACGTTGCCTTGATAATCATTTTCAGTTTTTCAGAAGACAAATTAAGTCTTTGTATTCCAATAGCATATTCTAAAAATGAAGACATATTCGTGTGGATATCCTTGTAATAAGATATCAACTTTAGCAAAGTGTTTATTCCAGGAGCTCTAGTTGGAAAGAGAATTATACATTTCTTTTTTTTTTTTTTTTTTTGAGTCAGAGTCTCCTTTGTCACCCAGGCTGGAGTGGAGTGGTGCAATCTCGGCTCACTGCAATCTCTGCCTTCCCCAGGTCCAAGAGGTTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTATACATTTCTATTGTGTATTTTGAGATCATCTCCTAACTCCCTATGTCTTCTTTTTTAGCCTGCCATTATCAAAACCTTATTTGAGAAGTTGCCAGAATATTTTTTTGAAAAGTAAGTGGCGTTATTATGGAATGTTCAAAGTACCCTGATGTACTTAAGTTCTCTCTGAAAAGGTTACTCTGAAAACTATTGGTTTCTCTGAAAGTCATATTTATCATTATATTTCTTAAGTGACTACTAAAATTTTACTGGAGTGTCTTTGAAGTTTCATCTATTAATATGACTTTGTAAAAATAGATAGGATTACTGTTAAAAGTAACTATTGGCCTGGTGCAGTGGCTCACACCTGTAATCCCAACAGTTTGGGAAGCTGAGGGAGGAGGATTGCTTGAGTTCAGGAATTCAAGACCAGCCTGGGCAATGTAGTGAGACCTTGTCTGTATTTCAAAACAGAATTTTTTTTTTTTTTTTAAGTATCTGTTGCTTATGCTCAGGGATAATCCCTAGTAGAAGGATACACAATATACTGGTAATGGTAGTTGTCTCCAAAGAGGGTAGCCAGTTGGTTGGAATCAGGTATTTTCTGAATACTTTTCTTTACCTTTTAAATTTTGTA
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CTCTCATGATTATTATTCCTGGGTTTAAGTTTTAATTTTTCCTTTACTATTTGCCATATTCTTGAAAATTTTTCTATTTTCAGAAACCAGGAAGCAACCACTTTCCAAAAAGACAAAGAAATCTCATATTGCTAATGAAGTTGAAGAAAATGACAGCATCTTTGTAAAGCTTCTTAAGATATCAGGAATTATTCTTAAAACGGGAGAGAGTCAGAATCAACTAGGTAATATTTTAATCTAATTTTATTCTCTGGGTTTAATGAAATAGTTCAGGACTGAATCATGGGTTTTCTAAATAGAGAGGCAATGAAGATTAGAAATCAGAGGGCCATCCATCTTGAGACAAAGTTGAAATTGCTTTTTAGAAAATGGTACAGTCAGGCCGGGCGCGGTGGCTCACGTTTATCATCCCAGCACTTTGGGAGGCTCGAGGCAGGCGGATTGCCTGAGCTCAGGAATTTGCGACCGGCCTGGGCAACACGTCTCTACTAAAATATAAAAAATTAGCCGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTGCTTGGGCGCCTGAGTCAGGAGAATTGCTTGAACCCGGGAGGTGAAAGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACTCCATTTCCAAAAAACAAAAATGGAAAAAGAAAATGGTACAGTCTTTGGTCCTCATTACTATGTCTTAAGTAAAGCATTTCTCATCCTTTTATTAGAAAAAATATTATATATTATTTATTTTGTGTTTTCTTATGAAAAAATAAATATCCAGAAAGCAGCTGTATCAGTGTCAGAATAATTTCAGAAGAAAATTTATAAAGCCATATAAGATTCTGTTTTGGGGGAGCAGATTATTCTATCTTGCTAAGGTTATGGCAGGTCTTTTTTAGAACACTTAGTGGCTATCTGCTATCAAAGCTAAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCAAAGCTAAGTCTTTTATGTGGGTTTAGACACAACCCCATGACTCTGGGCTGGGCACAGTGGCTTATGCCTGTAATCCCAGCACTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAACGAAACAAAACAAAAAAAAACGTGTCTGTAGTCCCAGCTACTTGGGGGGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCGGAAGTTCCTGTGAGCTGAGATCACGCCACTGCACTCCAGCCTAGGCAACAGAACAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGATTTGTCTCTGAAATTAGGTTGAAAATATTTTTATTGGTTTCATCAGGCAAGAAACTTGGGTTTTTAGAGAAGGAAAACTATGGTAGGAAACTGGTGACCAGCTCTTCTTTTTTCTGCATAGCTGTGGATCAAATAGCTTTCCAAAAGAAGCTCTTTCAGACCCTGAGGAGACACCCTTCCTATCCCAAAGTATGTATTTTTCCCCTGGTATTTTTGCTTGTGCCAGCATAACTCTAGAATTTGGAATTTAAGGACACTGGTATAAAGTTGAGTGGGCTAGAATGATTTTTAACAGCAAATATTAAACTAAAAATTTTATTCTTTTTTATTTTTTAAATCTCCTTAAGATAATAGAAGAATTTGTTAGTGGCCTGGAGTCTTACATTGAGGATGAAGACAGTTTCAGGAACTGCCTTTTGTCTTGTGAGCGTCTGCAGGATGAGGAAGCCGGGTGTGGAGAGGAGGCATGGAATCTTGCTGAAATTCAGTCTGTTTTGCCAACTTCATGGGGCTGGGGAGGGAGAGCACAGTTGTTTCAAATTTCATTTTTGGTGTAAGCTCTGTTTTCCTCAGAGTTTAAACTAAGTTTAAAATTCCTAAGCTTGTGGTTATGAGCCTAACAATCAGTGTTTTACCTATGCTGACAGAATTTCAAATCTCTACCTCTCCCTTGCAAAGAGCCATCTGCTCATTTCTGTATTTCTTGTCTAACAGGGTAGTTCCTCTTTAAATATTATGTATTTAACCAATTTTATTGAGAAAAGATGATAAAAGCATTAAAACAAGGAAAGCAAAGTGGAAAACAGATTTCTTTTTTTTTTACAGTATGGGTGCATCTTATTCTAAGAGTCTCATCAAACTGCTTCTGGGGATTGACATACTGCAGGTAAGACTGTCACTTTTTCTGTGAACATTTGATGGAAGAGGTTTGTGGTGTATGCTCAAGTCTAAATAGCGGGAACACAGGATAGAGTAGGGTTAATTGGAGAATTTGGGTTTGTAGCAGCTTTAGCACAGCCCTGTTGCTGTGATGGGTTTGGTAGGGTAATGTCTGTGTTTTAAAACTGTGCTTATTAGCCTAATACATCTGGCGGCCCCATTTATTCTCTCTGCATCTGATTCCTGTTCTTAAAGCTGCATCCTGTGTATCTCTGAGTATCTGGTAATCTTTATCATATTCATATCTACATTATCTCCCATTTAGCTTTTTAGATGCTTATGTAACTTAATTTTGTCCTTTTCCTCCTCCTCGTCTCTTTTATTAAGTAGACAATACATTGATATGATTTAAATATCTCAAGTTATACAAATGTATATAGAGCAGAAAACTTCCCTCCACCCCATTCTCCATTTTTCCTCTTCTCCCCTACTGTTAATCTTTTCACACTCTTAAACTCTTCCTTTTCACTGGAAATCTTGAAGATAATTTAGTTATTTTAAGTCTAAGAGCTCCCTTGTTCCTCCTGAGAGCTCCCCTTGCAAGTTATTTGATAATCTTTTAAAGTTTGCATTTTGTGGATTAACAGTTATTGTATTTAATAATATTTTAATTATCTGATTATTTTAACGTTGCCTTGATAATCATTTTCAGTTTTTCAGAAGACAAATTAAGTCTTTGTATTCCAATAGCATATTCTAAAAATGAAGACATATTCGTGTGGATATCCTTGTAATAAGATATCAACTTTAGCAAAGTGTTTATTCCAGGAGCTCTAGTTGGAAAGAGAATTATACATTTCTTTTTTTTTTTTTTTTTTTGAGTCAGAGTCTCCTTTGTCACCCAGGCTGGAGTGGAGTGGTGCAATCTCGGCTCACTGCAATCTCTGCCTTCCCCAGGTCCAAGAGGTTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTATACATTTCTATTGTGTATTTTGAGATCATCTCCTAACTCCCTATGTCTTCTTTTTTAGCCTGCCATTATCAAAACCTTATTTGAGAAGTTGCCAGAATATTTTTTTGAAAAGTAAGTGGCGTTATTATGGAATGTTCAAAGTACCCTGATGTACTTAAGTTCTCTCTGAAAAGGTTACTCTGAAAACTATTGGTTTCTCTGAAAGTCATATTTATCATTATATTTCTTAAGTGACTACTAAAATTTTACTGGAGTGTCTTTGAAGTTTCATCTATTAATATGACTTTGTAAAAATAGATAGGATTACTGTTAAAAGTAACTATTGGCCTGGTGCAGTGGCTCACACCTGTAATCCCAACAGTTTGGGAAGCTGAGGGAGGAGGATTGCTTGAGTTCAGGAATTCAAGACCAGCCTGGGCAATGTAGTGAGACCTTGTCTGTATTTCAAAACAGAATTTTTTTTTTTTTTTTAAGTATCTGTTGCTTATGCTCAGGGATAATCCCTAGTAGAAGGATACACAATATACTGGTAATGGTAGTTGTCTCCAAAGAGGGTAGCCAGTTGGTTGGAATCAGGTATTTTCTGAATACTTTTCTTTACCTTTTAAATTTTGTA
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Task1_train_5931
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Here is a mutation in LOC107303338, FANCD2 (3p25 FANCD2 Alu-mediated recombination region| FA complementation group D2) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Fanconi anemia complementation group D2
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CATAGCACTTATATTAGGTTGGTGCAAAAGTAATTGCAGTTTTTGCAATAAGTAGTTCAGTATTTTGTTTAAAAAAGAAGATACACACATACACATATGTATATTAATAGTGTACCTTTCTGGAATGACAGGATTATAGTCATTTTTATGTTCTCCTTTTTAATTTTTTCAGAGTCCTGATACAGTAATAGTAAGTTTAAAGGTTTACTTATTTTGAGACGGAATCTCACTCTGTTGCCCAGGCTAGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTTTGGTATTTTTAGTAGATATGAGGTTTCGCCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCAAGTGATCTGCTTGCCTCAGCCCCACAAAGTGCTGGGATTGCAGGAGTGAGCCACTGCACCCACTGAAGGTTTATTTTTTCAAATTTGTTTTAGCTAAATGTCTCATGCTGGATGCTTTACATCCTGGCTAGTCTTTTTCAGTTAAGATTGGCTGCAATAACAAGGACCATGCTGTCAAGGAGATGGAAGTGGTCCAAAACTTTAGATATAGGAGGCTCGAAGGAAGGTGGAAACTATCATATTTGGAAAAATGATAATTGAGCCAACATTTCTTTATTTATAAATGATTTTTAGTACTTTTATAAATATAATCTAATTTGACTTTCTATGTTCCCTTAGCAATATATGCTTGCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACCCACCATCGTGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCATGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCTGACTTATGCTTGCCTTTTTAAGCACTTACTGCGTTGATGTTATTAGTGTCTTACCTTTTAAAAATACTTGTCATATTCAGTTTTTAAGATTTATTAACATTGTCTTTTTAAAAATTATTATTAAGAGATGCTGTCTAGCCCTGTCATCCCTTCTCTCTAAATCCTCCCTGGATGTAGTCACTGTTCATATTTAGCATGTCTTCTAGACATTTTTCTTAACATACGTAAGCATGTATCTCCTGCATCTTGGGTATCACTTGTGTGTCTAGTGCAGTGCCGAATGCATAGTAGGTGTTCGGTAAATGTTAATGGAATGGCTAAAATATTTTGTGCAGTATTAATGCTTGCTGTTATTTTGACCAGAAAGGCTCAGTTCCCTGTTTTCTCTTCCTAACATTTTAGCAAGAACAGTGATGAAATCAACATACCTCGACTCATTGTCAGTCAACTAAAATGGCTTGACAGAGTTGTGGATGGCAAGGTAGGCTTATGGACTTTATCTCTTGAATTTAAAGAGTATGTTTCTCATATCTTTTGGAGGTTGTATTTTTTTTTCTTTCTAAACAGAAAATTCATACTTTTCCATCCATCCATTAGCTTTTTCCAATTTTCATAATTTGAGAATCATAGATACTTCACCCTTTAAATTTCAGAAAAGTTTAAATACGAAGAGTAGATATCATTTATTAAATAAATTAAATATTTGGGAAGATTCTTTTTCAAAGTACAGAGATAAATGACTGTGTTTATTTCTCAAATAATTTCAGCTCTGCATTTCACACGTAGGTAGTCTTTCTTTATTCTGGGTAATGTGCTGCAGTTCTAATAGTGTCTTCTACTGCAGGACCTCACCACCAAGATCATGCAGCTGATCAGTATTGCTCCAGAGAACCTGCAGCATGACATCATCACCAGCCTACCTGAGATCCTAGGGGATTCCCAGCACGCTGATGTGGGGAAAGAACTCAGGTGGATAAACCCTCTGTCATCATCTAAGTGAGGCTCAGCTATGGGGGTTCTATCACTGCAGTATGCAAAGAGCAGTAGTAATATGGTCTCTTCTATCTAAAAAGAGGATGATACCCCCCTTCATGAGTAGGGTATGGGATTTGACTTAAAAAAAAAAGGTATATATTTGAATAGATCCACATACTTTCTTTTTTTTTTTTTTTTTTTCTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCACCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAGAGGCACCTGCTACCATGCCCGACTAATTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCTCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCCCATGTACTTTCTTTTAAATGGTATACCTGTTATGAGCGTGAAGTCTGGCTTAGGATTAGATATCTAAATTTGGCCAGTGGAGAAGTTGACCATGATCCCTTAAGTTTCATTAACTTGTTCTTCAGGGGGTCCTTAACCCTGGCTGCACATTAAAATCATTTGTGGAGCCTATTAAACATCTACCTTCTTTGGGTTCCTAGGTGATTCATTCTAATGCACAGTCCTGCATCAGACCGCTTGCGGAGACCCATTGCTTACTGTCATTCATTTGAAAAATAGTAATTGGTAGGGAAGTATTGAAGAAGGGGAGAACAATATCCCTAGGTAATAAAGTTTCCATCTTAATGCAACTTTTTATTGTACTAGAAGTATTTTTTTTAAATTCAGTTTGTAATACTTCCTTTTGTATAGTTGTCTGCAAAGCTACCTCCAAAACATCCAGTGATTTCTTGCCCTCATCCTTTTGGGCAGGATGCTCCTTCTGGGCAAAGTACTACGCCATCCACTTTACCTGCCTGATGCCAGCTCATCTCCTTTTGTATAGTCTTTTTTTTTTTTTAGCATCTGTCACCGTCTGTTGGGCGCAGTGGCTCATGCCTTTAATCCCAGCATGTTGGGCGGCTGAAGTGGGTGGGTCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAAAGCCGTCTTTCAAAAACATACAAAAATTAGGTGGGCGTGGTGGTACGCACTTATAATTCTAGCTACTCAGGAGGCTGAGATGGGAGGATCAATTGAGCGTGGAAGGTCGAAGCTACAGTGAGCTGTGATGACACCACTGTAACTGTACTCAAGCCTGGGCATCAGAGTAAGACCCTGTCTCAAAAAACAAACAAACAAAAAAAAAAGCAATCTATCACTGTCCTTCTCACTATGTTGTGCTCCTGTAGCACCACCTACATGTGTCTCTCATACTTATCAGATTTCATTGTAAATGTTTTGGGTTTTCTTTTTCCTTTTTGCGGGGAAGGATACATACCAAACTAAATAGTGGTGTTCTCTGGGTAGTGGGGATTGTGATGGAAGGCTTCTTGTTTCTACTTTTATTATTTGAATTTTTATAATGAGCATGTATTATTTTTTGCAGTCAAAACAATTTTTAAAGAAACATACTATAAACGGTAACTTAATGGCAACTAAGTATGTCCTTTATTTTCATACTCTAATAAATGATTTTCTCAAGTCATTGTCTGCCCAGCTCTGTTCAAACCATTATACAACTTTTTTCTTTTTCTACCATTCACAGTGACCTACTGATAGAGAATACTTCACTCACTGTCCCAATCCTGGATGTCCTTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAGGTAGAAAAGACTCAGCTTTCCAGAAACAGAGCCAGCTTTCCAACCTCCCAGAACAAGTGTCAGTCAGTCATTGCCTTGGGAGTAATGAATATTTCATTTTGAAACCATAGTGAATCACATTTGATATCTCTCTTTTTTTTTTTTTTTCCCCTCAATGAGTTTCAGATGCTATTCTATGG
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CATAGCACTTATATTAGGTTGGTGCAAAAGTAATTGCAGTTTTTGCAATAAGTAGTTCAGTATTTTGTTTAAAAAAGAAGATACACACATACACATATGTATATTAATAGTGTACCTTTCTGGAATGACAGGATTATAGTCATTTTTATGTTCTCCTTTTTAATTTTTTCAGAGTCCTGATACAGTAATAGTAAGTTTAAAGGTTTACTTATTTTGAGACGGAATCTCACTCTGTTGCCCAGGCTAGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTTTGGTATTTTTAGTAGATATGAGGTTTCGCCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCAAGTGATCTGCTTGCCTCAGCCCCACAAAGTGCTGGGATTGCAGGAGTGAGCCACTGCACCCACTGAAGGTTTATTTTTTCAAATTTGTTTTAGCTAAATGTCTCATGCTGGATGCTTTACATCCTGGCTAGTCTTTTTCAGTTAAGATTGGCTGCAATAACAAGGACCATGCTGTCAAGGAGATGGAAGTGGTCCAAAACTTTAGATATAGGAGGCTCGAAGGAAGGTGGAAACTATCATATTTGGAAAAATGATAATTGAGCCAACATTTCTTTATTTATAAATGATTTTTAGTACTTTTATAAATATAATCTAATTTGACTTTCTATGTTCCCTTAGCAATATATGCTTGCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACCCACCATCGTGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCATGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCTGACTTATGCTTGCCTTTTTAAGCACTTACTGCGTTGATGTTATTAGTGTCTTACCTTTTAAAAATACTTGTCATATTCAGTTTTTAAGATTTATTAACATTGTCTTTTTAAAAATTATTATTAAGAGATGCTGTCTAGCCCTGTCATCCCTTCTCTCTAAATCCTCCCTGGATGTAGTCACTGTTCATATTTAGCATGTCTTCTAGACATTTTTCTTAACATACGTAAGCATGTATCTCCTGCATCTTGGGTATCACTTGTGTGTCTAGTGCAGTGCCGAATGCATAGTAGGTGTTCGGTAAATGTTAATGGAATGGCTAAAATATTTTGTGCAGTATTAATGCTTGCTGTTATTTTGACCAGAAAGGCTCAGTTCCCTGTTTTCTCTTCCTAACATTTTAGCAAGAACAGTGATGAAATCAACATACCTCGACTCATTGTCAGTCAACTAAAATGGCTTGACAGAGTTGTGGATGGCAAGGTAGGCTTATGGACTTTATCTCTTGAATTTAAAGAGTATGTTTCTCATATCTTTTGGAGGTTGTATTTTTTTTTCTTTCTAAACAGAAAATTCATACTTTTCCATCCATCCATTAGCTTTTTCCAATTTTCATAATTTGAGAATCATAGATACTTCACCCTTTAAATTTCAGAAAAGTTTAAATACGAAGAGTAGATATCATTTATTAAATAAATTAAATATTTGGGAAGATTCTTTTTCAAAGTACAGAGATAAATGACTGTGTTTATTTCTCAAATAATTTCAGCTCTGCATTTCACACGTAGGTAGTCTTTCTTTATTCTGGGTAATGTGCTGCAGTTCTAATAGTGTCTTCTACTGCAGGACCTCACCACCAAGATCATGCAGCTGATCAGTATTGCTCCAGAGAACCTGCAGCATGACATCATCACCAGCCTACCTGAGATCCTAGGGGATTCCCAGCACGCTGATGTGGGGAAAGAACGCAGGTGGATAAACCCTCTGTCATCATCTAAGTGAGGCTCAGCTATGGGGGTTCTATCACTGCAGTATGCAAAGAGCAGTAGTAATATGGTCTCTTCTATCTAAAAAGAGGATGATACCCCCCTTCATGAGTAGGGTATGGGATTTGACTTAAAAAAAAAAGGTATATATTTGAATAGATCCACATACTTTCTTTTTTTTTTTTTTTTTTTCTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCACCCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAGAGGCACCTGCTACCATGCCCGACTAATTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCTCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCCCATGTACTTTCTTTTAAATGGTATACCTGTTATGAGCGTGAAGTCTGGCTTAGGATTAGATATCTAAATTTGGCCAGTGGAGAAGTTGACCATGATCCCTTAAGTTTCATTAACTTGTTCTTCAGGGGGTCCTTAACCCTGGCTGCACATTAAAATCATTTGTGGAGCCTATTAAACATCTACCTTCTTTGGGTTCCTAGGTGATTCATTCTAATGCACAGTCCTGCATCAGACCGCTTGCGGAGACCCATTGCTTACTGTCATTCATTTGAAAAATAGTAATTGGTAGGGAAGTATTGAAGAAGGGGAGAACAATATCCCTAGGTAATAAAGTTTCCATCTTAATGCAACTTTTTATTGTACTAGAAGTATTTTTTTTAAATTCAGTTTGTAATACTTCCTTTTGTATAGTTGTCTGCAAAGCTACCTCCAAAACATCCAGTGATTTCTTGCCCTCATCCTTTTGGGCAGGATGCTCCTTCTGGGCAAAGTACTACGCCATCCACTTTACCTGCCTGATGCCAGCTCATCTCCTTTTGTATAGTCTTTTTTTTTTTTTAGCATCTGTCACCGTCTGTTGGGCGCAGTGGCTCATGCCTTTAATCCCAGCATGTTGGGCGGCTGAAGTGGGTGGGTCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAAAGCCGTCTTTCAAAAACATACAAAAATTAGGTGGGCGTGGTGGTACGCACTTATAATTCTAGCTACTCAGGAGGCTGAGATGGGAGGATCAATTGAGCGTGGAAGGTCGAAGCTACAGTGAGCTGTGATGACACCACTGTAACTGTACTCAAGCCTGGGCATCAGAGTAAGACCCTGTCTCAAAAAACAAACAAACAAAAAAAAAAGCAATCTATCACTGTCCTTCTCACTATGTTGTGCTCCTGTAGCACCACCTACATGTGTCTCTCATACTTATCAGATTTCATTGTAAATGTTTTGGGTTTTCTTTTTCCTTTTTGCGGGGAAGGATACATACCAAACTAAATAGTGGTGTTCTCTGGGTAGTGGGGATTGTGATGGAAGGCTTCTTGTTTCTACTTTTATTATTTGAATTTTTATAATGAGCATGTATTATTTTTTGCAGTCAAAACAATTTTTAAAGAAACATACTATAAACGGTAACTTAATGGCAACTAAGTATGTCCTTTATTTTCATACTCTAATAAATGATTTTCTCAAGTCATTGTCTGCCCAGCTCTGTTCAAACCATTATACAACTTTTTTCTTTTTCTACCATTCACAGTGACCTACTGATAGAGAATACTTCACTCACTGTCCCAATCCTGGATGTCCTTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAGGTAGAAAAGACTCAGCTTTCCAGAAACAGAGCCAGCTTTCCAACCTCCCAGAACAAGTGTCAGTCAGTCATTGCCTTGGGAGTAATGAATATTTCATTTTGAAACCATAGTGAATCACATTTGATATCTCTCTTTTTTTTTTTTTTTCCCCTCAATGAGTTTCAGATGCTATTCTATGG
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Task1_train_5932
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This mutation is located in gene FANCD2, LOC107303338 (FA complementation group D2| 3p25 FANCD2 Alu-mediated recombination region) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Fanconi anemia complementation group D2
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AGTTGGCAAGTGATTGAATCTTTCTTTTAATAAATGTCAAGATGTTCAGAGTTACTTCTGTAGTAATATCACTTTCATGCATATTGCTCTGTATTCTTTTTTTTTTTTTTTGAGAATGGAATCTCGCTCTCTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTATAGGTGCATGCTGCCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCTGCTCTGTATTCTTAAGGGGTATCAATGGTTAACAGTTGTGGCACTTTATTTATCTGAAAAATATTTCTGAGTTTTGTGAAAAGTGTAGATACTCCCAGGGGAGTGTGTGGAACAAATGAGCATTATCCATTCTGTGTTTTAATTAGAGGAAAAGCTGCTGTTTCATTGTAGCAAATGTACTGATTTGTTAACTGTTTTTCTGTTGTTGCATATTTATTGACAATAGGTGTTTGACCTGGTGATGCTTTTCATCATCTATAGCACCAATACTCAGACAAAGAAGTACATTGACAGGGTGCTAAGAAATAAGATTCGATCAGGCTGCATTCAAGAACAGCTGCTCCAGAGTACATTCTCTGTTCATTACTTAGTAAGTGTCAGAGACTATTGATTTTTAATCTAAAACAGAAAGCTTTACAGCTCTCATGTAAAATTTCATCTTATTTCAGTCCATTGTTCAAACCCATTGAGATTTTTGAATTTTGTTTTTGCATTAATCATTTTAATTGTCTATCTCAATGCAGTTTGCAACTTTGACAAACTGGCCTTCCGTATCCTATTTAAGTAGCTTATAAAAACCTTGAGGGGAATAGGACCAGCCTGTAGAAACTAGTAGAAATGTAAATATGTACCTATTTGAACTATCACTCTTTAGCCATTCAAAACTGTGGACTTTAGGTGATAATTCCTCTAGAAATGTAAATTATTCAAAGTGGAATTTTATAAGCTAGGAATAGTGTTTTGCCAGCTGAACGTTCAGGATATTAGCAGTATAGAACTTAGAAAACTGGATGGGCCAGTGGTTTGGGGTTTGGGTTAGGAGCTAATGAGAATACCTCGCTGGGTCTTAAATTTTATATTTAGGAATAGATTTAACGGTTGTATTATTTTATCTTGCAGTTCTTTCTGTGTTTATTTCTGCCAATTATACATGTTTTGGGCTGTAATTTTCTAGATGCAGAAACCACATGTAATTTTTCATTGCATTTTCCCCAATAAAGCATTATACCCAGCTTAGTACTAAATATAAGATTTTTAAAAATTATGGTATCAATAAGGAAGCTATGTTTATTAACTGGTTATTTAGTCTGGGTCCATTAATGTCTATGTACATTGAATTATTGGTAGGTTATGATCACTTCTCTTCTTGATCTTCTTTTAAAAAAATCAGCTTAGTTAGCATTGAACCTTATAGACCTACTTCAAATTATAACCAAGGTGGAACATCCCTGGGGGTAGTATGATTGCATGGGGAAACTGGGATTTAGAACATCTGGCCTCCAATCCCAAATTGAGCAGATAGGAATGTTCTATTAGGCTTGTAATTTAACTTCTTTGAGCTTAAAAGTCAATTATTATCCAAACGTGGAATCCCATTGATGCTGAGAGTAATCTCAGAATGATGAAGGATTATTTTTGTGTAAAACAAAGATTAAGATTTCCTAAGTTAAAATGAGAGCTAGGGAGGAGAAGTCTGACATTCCAAAAGGATAAGCAACTCTTAGGTTGTGTACTAACTGTTTCCTACAGCTTCTTTTCTCTCTCTACTCTTCCCCACTCAAGGTTCTTAAGGATATGTGTTCATCCATTCTGTCGCTGGCTCAGAGTTTGCTTCACTCTCTAGACCAGAGTATAATTTCATTTGGCAGTCTCCTATACAAATATGCATTTAAGTTTTTTGACACGTACTGCCAGCAGGTATGTTGAAACATTTATTTTGGCAAGGAGGGAACACAGAAAGGGAAAATAATCTGATGTTTATTTCTTGTTGGTTGGAACTCACTGAAGGGGAAGGAACTCTGACCTGGGTCTCAAGAAAGCTCAATTCTAGTCCCAGCCTTGATGAAAGGAAGAGACTTGACTGGTGGCTCTAACTCTGTGTTCTGAGCTCTAAAATTCTCTGTCTGAAATTAAGATCCAGATCTAGTCCATTTCAAAACATGAGACACTTTTTTTTGTTTTGTTTTGAGACGTGGTTTTGCTCTTCATGCCCAGGCTGGAGTGCAGTGGTGCTATCTCAGCTCACTGCAACCTTCACCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCTTCCTAAGTAGCTGTGATTACAGGCACACACCACCACGCCCGGTTAATTTTTTGTATTTTTAGTAGACACAGCGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAACCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCATTGGGCCTGGCCGAGACACATTTTAATAGCATATATCCAGAGAGGGAGGACTGTATTTGTGGAAAATGTTTATGAAAGCAAGTAAAGAACAGTGTCTTATTTTGTATTTTTACATATATTCTTCCTGTCATTAACAATGTTAAAACGCATTTGAATGGAACTTTTAAAATGAAGATTTGTAAAAAAATTTTAAACATTTAAAGTAGAGCAATAGTTGCAGCTGACATGAGGTAGCTGTTGCAGTTGAAAATGTAATTCTGTTATGACTATTATGGAGTGACAGTATAAAGGGAGAATGGCATCTAAGACATTTCTGGACCCTCTTAATGTCTTAGAGACACTGTCATAATCCATGTTTGCTTGGAAACATGCAAGTCTAGCCTGTACTATATGGAGAAAACCTTTAAAGCTTTTAGCTCCTTGAGTGCCATCTTTTTGAGGAATTTCAACTGATCTTGTACAACCTCAACCTAAAGGGTAAAATTTAACCCATATGGGAAAAAGAAAGAGGAAAACTACGCCAAGGAGCAAAATCAGGAGGGCTTAGGTAGAGCTCACTGATAAAATATGGGAAATAGGTCAAGATGGGATGGTCAAGTTACACTGGCATATTCCTAAATCTCCTGAAGCCAACATTAATGAAAACTAGATAATAGGTGATGGGTTTGGGTTGATTGTGATTTTAACAAAGTAGAGATTGGAGAGGCCTTGGGGGTGAATCCCTTTAGAATGGCCATCCATATTTTGTTTTACACTGTTCTGTTGACTCTCCCCTGTATAGGAAGTGGTTGGTGCCTTAGTGACCCATATCTGCAGTGGGAATGAAGCTGAAGTTGATACTGCCTTAGATGTCCTTCTAGAGTTGGTAGTGTTAAACCCATCTGCTATGATGATGAATGCTGTCTTTGTAAAGGTATCTTATTGGCTTCTTGTACTTTAGATATTGAATACTATAATTGGTGGGAGGTGGTGGGAAGGAGGTGAGATGATGGGCAAGTAATATAAATAAAAAGTGACTATTCTATCTATGTGTTAATTCATTCAGCAAACACTTCTTTATACCTAACCTACAGGCTAATCTCTATTCTGGGTGCTGTGAATGTAAAGTAGGCCCTTACCTTTCATGTTAAAGACTAAGACACATAAGCAAGTCACTATAAATACAACATGGTGAATTCTCTGGTAAAGTACTATAGATATAACAGAGTAAGAATAATTAAATTTAGCCTGGGAAGCTGGAGAATTCTTCAAAGAGGCAATGTGAGTGATTGCTGAAGGATGGGAATGACTGACAAGAGAAAGTATGGGAAGTGCGTTCTAGGCAGAGAAGAGTTTGAGCAGAAGCAAACTGGTGCCCAAGTCAATGGTGTGACTGAGGAATGAGAAGCAAACAAGCATGACTGGAGAATAGGATATATATGGAGAGGAATGATTGGAGGCAAGGCTGGTAAGACATAGGACAG
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AGTTGGCAAGTGATTGAATCTTTCTTTTAATAAATGTCAAGATGTTCAGAGTTACTTCTGTAGTAATATCACTTTCATGCATATTGCTCTGTATTCTTTTTTTTTTTTTTTGAGAATGGAATCTCGCTCTCTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTATAGGTGCATGCTGCCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGTCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCTGCTCTGTATTCTTAAGGGGTATCAATGGTTAACAGTTGTGGCACTTTATTTATCTGAAAAATATTTCTGAGTTTTGTGAAAAGTGTAGATACTCCCAGGGGAGTGTGTGGAACAAATGAGCATTATCCATTCTGTGTTTTAATTAGAGGAAAAGCTGCTGTTTCATTGTAGCAAATGTACTGATTTGTTAACTGTTTTTCTGTTGTTGCATATTTATTGACAATAGGTGTTTGACCTGGTGATGCTTTTCATCATCTATAGCACCAATACTCAGACAAAGAAGTACATTGACAGGGTGCTAAGAAATAAGATTCGATCAGGCTGCATTCAAGAACAGCTGCTCCAGAGTACATTCTCTGTTCATTACTTAGTAAGTGTCAGAGACTATTGATTTTTAATCTAAAACAGAAAGCTTTACAGCTCTCATGTAAAATTTCATCTTATTTCAGTCCATTGTTCAAACCCATTGAGATTTTTGAATTTTGTTTTTGCATTAATCATTTTAATTGTCTATCTCAATGCAGTTTGCAACTTTGACAAACTGGCCTTCCGTATCCTATTTAAGTAGCTTATAAAAACCTTGAGGGGAATAGGACCAGCCTGTAGAAACTAGTAGAAATGTAAATATGTACCTATTTGAACTATCACTCTTTAGCCATTCAAAACTGTGGACTTTAGGTGATAATTCCTCTAGAAATGTAAATTATTCAAAGTGGAATTTTATAAGCTAGGAATAGTGTTTTGCCAGCTGAACGTTCAGGATATTAGCAGTATAGAACTTAGAAAACTGGATGGGCCAGTGGTTTGGGGTTTGGGTTAGGAGCTAATGAGAATACCTCGCTGGGTCTTAAATTTTATATTTAGGAATAGATTTAACGGTTGTATTATTTTATCTTGCAGTTCTTTCTGTGTTTATTTCTGCCAATTATACATGTTTTGGGCTGTAATTTTCTAGATGCAGAAACCACATGTAATTTTTCATTGCATTTTCCCCAATAAAGCATTATACCCAGCTTAGTACTAAATATAAGATTTTTAAAAATTATGGTATCAATAAGGAAGCTATGTTTATTAACTGGTTATTTAGTCTGGGTCCATTAATGTCTATGTACATTGAATTATTGGTAGGTTATGATCACTTCTCTTCTTGATCTTCTTTTAAAAAAATCAGCTTAGTTAGCATTGAACCTTATAGACCTACTTCAAATTATAACCAAGGTGGAACATCCCTGGGGGTAGTATGATTGCATGGGGAAACTGGGATTTAGAACATCTGGCCTCCAATCCCAAATTGAGCAGATAGGAATGTTCTATTAGGCTTGTAATTTAACTTCTTTGAGCTTAAAAGTCAATTATTATCCAAACGTGGAATCCCATTGATGCTGAGAGTAATCTCAGAATGATGAAGGATTATTTTTGTGTAAAACAAAGATTAAGATTTCCTAAGTTAAAATGAGAGCTAGGGAGGAGAAGTCTGACATTCCAAAAGGATAAGCAACTCTTAGGTTGTGTACTAACTGTTTCCTACAGCTTCTTTTCTCTCTCTACTCTTCCCCACTCAAGGTTCTTAAGGATATGTGTTCATCCATTCTGTCGCTGGCTCAGAGTTTGCTTCACTCTCTAGACCAGAGTATAATTTCATTTGGCAGTCTCCCATACAAATATGCATTTAAGTTTTTTGACACGTACTGCCAGCAGGTATGTTGAAACATTTATTTTGGCAAGGAGGGAACACAGAAAGGGAAAATAATCTGATGTTTATTTCTTGTTGGTTGGAACTCACTGAAGGGGAAGGAACTCTGACCTGGGTCTCAAGAAAGCTCAATTCTAGTCCCAGCCTTGATGAAAGGAAGAGACTTGACTGGTGGCTCTAACTCTGTGTTCTGAGCTCTAAAATTCTCTGTCTGAAATTAAGATCCAGATCTAGTCCATTTCAAAACATGAGACACTTTTTTTTGTTTTGTTTTGAGACGTGGTTTTGCTCTTCATGCCCAGGCTGGAGTGCAGTGGTGCTATCTCAGCTCACTGCAACCTTCACCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCTTCCTAAGTAGCTGTGATTACAGGCACACACCACCACGCCCGGTTAATTTTTTGTATTTTTAGTAGACACAGCGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAACCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCATTGGGCCTGGCCGAGACACATTTTAATAGCATATATCCAGAGAGGGAGGACTGTATTTGTGGAAAATGTTTATGAAAGCAAGTAAAGAACAGTGTCTTATTTTGTATTTTTACATATATTCTTCCTGTCATTAACAATGTTAAAACGCATTTGAATGGAACTTTTAAAATGAAGATTTGTAAAAAAATTTTAAACATTTAAAGTAGAGCAATAGTTGCAGCTGACATGAGGTAGCTGTTGCAGTTGAAAATGTAATTCTGTTATGACTATTATGGAGTGACAGTATAAAGGGAGAATGGCATCTAAGACATTTCTGGACCCTCTTAATGTCTTAGAGACACTGTCATAATCCATGTTTGCTTGGAAACATGCAAGTCTAGCCTGTACTATATGGAGAAAACCTTTAAAGCTTTTAGCTCCTTGAGTGCCATCTTTTTGAGGAATTTCAACTGATCTTGTACAACCTCAACCTAAAGGGTAAAATTTAACCCATATGGGAAAAAGAAAGAGGAAAACTACGCCAAGGAGCAAAATCAGGAGGGCTTAGGTAGAGCTCACTGATAAAATATGGGAAATAGGTCAAGATGGGATGGTCAAGTTACACTGGCATATTCCTAAATCTCCTGAAGCCAACATTAATGAAAACTAGATAATAGGTGATGGGTTTGGGTTGATTGTGATTTTAACAAAGTAGAGATTGGAGAGGCCTTGGGGGTGAATCCCTTTAGAATGGCCATCCATATTTTGTTTTACACTGTTCTGTTGACTCTCCCCTGTATAGGAAGTGGTTGGTGCCTTAGTGACCCATATCTGCAGTGGGAATGAAGCTGAAGTTGATACTGCCTTAGATGTCCTTCTAGAGTTGGTAGTGTTAAACCCATCTGCTATGATGATGAATGCTGTCTTTGTAAAGGTATCTTATTGGCTTCTTGTACTTTAGATATTGAATACTATAATTGGTGGGAGGTGGTGGGAAGGAGGTGAGATGATGGGCAAGTAATATAAATAAAAAGTGACTATTCTATCTATGTGTTAATTCATTCAGCAAACACTTCTTTATACCTAACCTACAGGCTAATCTCTATTCTGGGTGCTGTGAATGTAAAGTAGGCCCTTACCTTTCATGTTAAAGACTAAGACACATAAGCAAGTCACTATAAATACAACATGGTGAATTCTCTGGTAAAGTACTATAGATATAACAGAGTAAGAATAATTAAATTTAGCCTGGGAAGCTGGAGAATTCTTCAAAGAGGCAATGTGAGTGATTGCTGAAGGATGGGAATGACTGACAAGAGAAAGTATGGGAAGTGCGTTCTAGGCAGAGAAGAGTTTGAGCAGAAGCAAACTGGTGCCCAAGTCAATGGTGTGACTGAGGAATGAGAAGCAAACAAGCATGACTGGAGAATAGGATATATATGGAGAGGAATGATTGGAGGCAAGGCTGGTAAGACATAGGACAG
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Task1_train_5933
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The gene FANCD2, LOC107303338 (FA complementation group D2| 3p25 FANCD2 Alu-mediated recombination region) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Fanconi anemia complementation group D2
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GCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGACTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAGAAGTTGTGTTCCCTATGTATGTGGAGTAATATCTCCCTATGTACGTGGAGTAATACACCTATGAAGTGTGGTCTAGAAATTTATTTCTCCTTCTCAGATTGGTGTCTCCGCTGTGCCTGGCTCCGTATTTCCGGTTACTGAGACTTTGTGTGGAGAGACAGCATAACGGAAACTTGGAGGAGATTGATGGTCTACTAGGTATGGGATGAAGTCATCAGATCCTTTCTTCTTTATACTCTTCCTTTGGTAAACTTAGGGAAAGGGCAGATCAATACATGGTGTATGTGGGGAGGAATTTTCTAACTTCAGCAGAATAGTTTATCATTGGAATTCCAAAGACAAAATAGTACATACAGAATCCCATTATGTTAACAAATCAATTGTTGCAAAAACTTTCTAGTTATATTTGTTGATTGCTATATGATATGCAAATATTTTAATCAGATCTTGGCCTTCAAATATGAGTTAAAGGGGAAAGTAAATAGCAAGGACAGCTAGCTCCAGAGGCAACCTCCAGGTTTTATTGGCTTGCACTAAAGGTAGTTGGAAATGTTTGTTCTCTCTCAGATTGTCCTATATTCCTAACTGACCTGGAGCCTGGAGAGAAGTTGGAGTCCATGTCTGCTAAAGAGCGTTCATTCATGTGTTCTCTCATATTTCTTACTCTCAACTGGTTCCGAGAGGTGAGCAGAGTTAATAGGATGTTTCACTTATTGTGCATAGTTTTTCTCAAAACTATTTTCTTAGTTCCCACAAGACTCCCTAGAAGTCTTCACCAAGCACTAACCCCCGTGTGCTTCTCTAGCTGTTATGTCCCACCACTCCCCAGTTATATGAACCTCCTTAGGTAGCCAAATGAGAATACTTAGAATTCACTTCACATTGCCCATGCTTTATTTTCTCCAAGCTGCCTTCTCCCTAGAATGACCTTCTCACCTTCACTGTGGAACTACTGTTCGTCCTGGCACAGGCATATGCCTACTGTTTTGATTCAGTGAGTGGTGGTAGTTTCCCTCCCATTAGAATGTATTTGTGTTTGGTGATAATGACAATGATGGCAACATCTTATATCTCTACCTCACTGTCTTCCTCTCTGATATTATTTCAGGAATGTTTGTGCACTTGAATGAGCTTATTTGATTACCACATCTCTATTATGATACGGGCAGGATAGCTATTGTCCTCATTTTACACATACGAATTTCAATAGGGAGTTCAAAGTCATTAAAAATTTTTAAGTACTTACACTGTACCAAGTGCTGGACTCATTTCTTTATGAAGAAATACTTAGAAAGGTTAAAGACTCAGCCAAGGTCACACAGTAAGTAGCAGTATAGAACTTGTTTCACCAAATTGTGTGCTGTCTGGCTATTCCACCTTGTAACATAACTAGTAATAAGTAAAACTAGGGTCACAAGCCTAATCTCCTTTGTTTTTTGTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGGTGGCTCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCAATTCTCCTTCTTCAGCCTCCCTAGTAGCTGGGATTACAGATGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGCTTTCACCATGTTGGCCAGACTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCCTGGCTGAATCTCCTATATTTTGGGCCAGAGATTTTTTTTCTGTATACCACGTTGTTGAGGACAGTTCTATTACAGACTAAACTCAAAGATCTTGCTTTTCATAGACATCTCTCAGCTCTGGATAAATAATATAAACAAGGTTAAAATCTGAACATTTGGAAGTATGAGAATGTAATTTGTACTTTGCAGATTGTAAATGCCTTCTGCCAGGAAACATCACCTGAGATGAAGGGGAAGGTGCTCACTCGGTTAAAGCACATTGTAGAATTGCAAATAATCCTGGAAAAGTACTTGGCAGGTAAGAGAAGTGTCCTATACTGGTAGTACTACTAGGCCAGTAGTGAGGCAATAAAGCACTTAGCTTTCCCTGATACCAAAACCAGACAAAGACACATCAAAAAAAGAAATCTCAGGCCAATATCCCTGATGAACATTGATACAAAAATCCTAACAAAATACTAGCAAACCTAATTCAGCAACACATTAAAAATATCAGCTGGGCACGAGGTGGCTCACGCCTGTAATCCTAGCACTTTTGGAAGCCAAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTGTACTAAACATACAAAAATTAGCCAGGCGTGGTTGTGGGCACCTGTAATCCCAACTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCCATCTCAAAAACAAACAAAAGAAAGATTATTCATCATGGCCAAATGGGATGATTTATCCCAGGGATGCAAGGATTGTTCAACATATGTAAATCAATGTGATACCTCCTATCAACAGAATGAAGGACAAAAACCACATGATATTTAAATTGATGCTTAAAAAAATTTTATAAAATTCAACATCCTTTCATCATAAAAAACCCTCAGAAAACTGGGTATAGATCCATAGCTACTATTAAACTGAACAGAAAAAAACTGAAAGCCTTTCCTCTAAGATCTGAACAAGACAAGGATACCCACTTATATAATACCACTATTATAAAATACAGTATTGGAAGTCCTAGCTAGAACAATTAGACAAGAGAGAGAAAGAAAGAAAGGGCATCCAAATTGGAAAGGAAGATGTTAAATTATCCTTGTTTGCAGATGATATGATCTTATATTTGGAAAAGCCTAAAGACTCCACCAAAAAACTATTAGATAAATTCAGTAAAGTTGCAAGATACAAAATCATCATATAAAAATGAGTAGCATTTCTGTATGCCAACAACTAAGAATCTGAAAAAAATCAAGAAAGTAATCCATTTACAATAGCTACAAATAAAATAAACAAAAGTTACAAATAAAATAGGAATAAGCTTAACCAAAGAAGTGAAAGAGCACTATAATGAGTACTATGAAACATTGATGCAAGAAATTAAAGAGCAAATAAAAAAAGGAAAGATACTTCATGTTCATGGATCGGAAGAATTAATATTGTTAAAATTTCCATGCTACCCAACACAATCTACAGATTCAAGGCAATCCCTATTAAAATACCAATGACATTCTTCACAGAAATAGAAAAAAAAAAAGCCTAAAATTTATATAGAACCACCGAAGACCCAGAATAGCCAAAGCTGTCCTGAGTAAAATGAATGAAACTGGAGGAATCGCATTACCTGACTTCAAATTATACTACAGAGCTATAGTAACCAAAACAGCATGGTGCTGGCACAAAAACAGATGCATATACCAATGGAACAGAAGAGAGCCCAGAAATAAGTCCATACACCTACAATGAACTCATTCTCAGCAAAGGTGCCAAGAATATACATTGGGGAAAGACACTCTCTTCAATAAATGGTGTTGGGAAAACTGGATATCCATATGCAGAAGAATGAAACTAGACCCCTATCTCTTGCCATATACAAAAATCAAAATGGATTATAGACTTAAATCTAAGACTTCAAATTATGAAACTACTAACAACAACAACAAAAAACATTCAGAAAACTCTTCAGGACATTAGAGTGGGCAAAGATTTCCTGAGGAATACCCTACAAGCACAGGCAACCAAAGCAAAAATGGACAAATGGGATCACATTAAGTTAAAAAGTTAAGTTCCTTTCCTCTGCATAGCAAAGGAAACACCAAAGTGAAGAGACAGCCCACAGAATGCGAGAAAATATTTGCAAACTATGTATCTGACAAGGGACTAATAACTGGAATATATAAAGATAGGAAAAAAAATTATTCGGATTG
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GCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGACTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAGAAGTTGTGTTCCCTATGTATGTGGAGTAATATCTCCCTATGTACGTGGAGTAATACACCTATGAAGTGTGGTCTAGAAATTTATTTCTCCTTCTCAGATTGGTGTCTCCGCTGTGCCTGGCTCCGTATTTCCGGTTACTGAGACTTTGTGTGGAGAGACAGCATAACGGAAACTTGGAGGAGATTGATGGTCTACTAGGTATGGGATGAAGTCATCAGATCCTTTCTTCTTTATACTCTTCCTTTGGTAAACTTAGGGAAAGGGCAGATCAATACATGGTGTATGTGGGGAGGAATTTTCTAACTTCAGCAGAATAGTTTATCATTGGAATTCCAAAGACAAAATAGTACATACAGAATCCCATTATGTTAACAAATCAATTGTTGCAAAAACTTTCTAGTTATATTTGTTGATTGCTATATGATATGCAAATATTTTAATCAGATCTTGGCCTTCAAATATGAGTTAAAGGGGAAAGTAAATAGCAAGGACAGCTAGCTCCAGAGGCAACCTCCAGGTTTTATTGGCTTGCACTAAAGGTAGTTGGAAATGTTTGTTCTCTCTCAGATTGTCCTATATTCCTAACTGACCTGGAGCCTGGAGAGAAGTTGGAGTCCATGTCTGCTAAAGAGCGTTCATTCATGTGTTCTCTCATATTTCTTACTCTCAACTGGTTCCGAGAGGTGAGCAGAGTTAATAGGATGTTTCACTTATTGTGCATAGTTTTTCTCAAAACTATTTTCTTAGTTCCCACAAGACTCCCTAGAAGTCTTCACCAAGCACTAACCCCCGTGTGCTTCTCTAGCTGTTATGTCCCACCACTCCCCAGTTATATGAACCTCCTTAGGTAGCCAAATGAGAATACTTAGAATTCACTTCACATTGCCCATGCTTTATTTTCTCCAAGCTGCCTTCTCCCTAGAATGACCTTCTCACCTTCACTGTGGAACTACTGTTCGTCCTGGCACAGGCATATGCCTACTGTTTTGATTCAGTGAGTGGTGGTAGTTTCCCTCCCATTAGAATGTATTTGTGTTTGGTGATAATGACAATGATGGCAACATCTTATATCTCTACCTCACTGTCTTCCTCTCTGATATTATTTCAGGAATGTTTGTGCACTTGAATGAGCTTATTTGATTACCACATCTCTATTATGATACGGGCAGGATAGCTATTGTCCTCATTTTACACATACGAATTTCAATAGGGAGTTCAAAGTCATTAAAAATTTTTAAGTACTTACACTGTACCAAGTGCTGGACTCATTTCTTTATGAAGAAATACTTAGAAAGGTTAAAGACTCAGCCAAGGTCACACAGTAAGTAGCAGTATAGAACTTGTTTCACCAAATTGTGTGCTGTCTGGCTATTCCACCTTGTAACATAACTAGTAATAAGTAAAACTAGGGTCACAAGCCTAATCTCCTTTGTTTTTTGTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGGTGGCTCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCAATTCTCCTTCTTCAGCCTCCCTAGTAGCTGGGATTACAGATGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGCTTTCACCATGTTGGCCAGACTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCCTGGCTGAATCTCCTATATTTTGGGCCAGAGATTTTTTTTCTGTATACCACGTTGTTGAGGACAGTTCTATTACAGACTAAACTCAAAGATCTTGCTTTTCATAGACATCTCTCAGCTCTGGATAAATAATATAAACAAGGTTAAAATCTGAACATTTGGAAGTATGAGAATGTAATTTGTACTTTGCAGATTGTAAATGCCTTCTGCCAGGAAACATCACCTGAGATGAAGGGGAAGGTGCTCACTCAGTTAAAGCACATTGTAGAATTGCAAATAATCCTGGAAAAGTACTTGGCAGGTAAGAGAAGTGTCCTATACTGGTAGTACTACTAGGCCAGTAGTGAGGCAATAAAGCACTTAGCTTTCCCTGATACCAAAACCAGACAAAGACACATCAAAAAAAGAAATCTCAGGCCAATATCCCTGATGAACATTGATACAAAAATCCTAACAAAATACTAGCAAACCTAATTCAGCAACACATTAAAAATATCAGCTGGGCACGAGGTGGCTCACGCCTGTAATCCTAGCACTTTTGGAAGCCAAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTGTACTAAACATACAAAAATTAGCCAGGCGTGGTTGTGGGCACCTGTAATCCCAACTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCCATCTCAAAAACAAACAAAAGAAAGATTATTCATCATGGCCAAATGGGATGATTTATCCCAGGGATGCAAGGATTGTTCAACATATGTAAATCAATGTGATACCTCCTATCAACAGAATGAAGGACAAAAACCACATGATATTTAAATTGATGCTTAAAAAAATTTTATAAAATTCAACATCCTTTCATCATAAAAAACCCTCAGAAAACTGGGTATAGATCCATAGCTACTATTAAACTGAACAGAAAAAAACTGAAAGCCTTTCCTCTAAGATCTGAACAAGACAAGGATACCCACTTATATAATACCACTATTATAAAATACAGTATTGGAAGTCCTAGCTAGAACAATTAGACAAGAGAGAGAAAGAAAGAAAGGGCATCCAAATTGGAAAGGAAGATGTTAAATTATCCTTGTTTGCAGATGATATGATCTTATATTTGGAAAAGCCTAAAGACTCCACCAAAAAACTATTAGATAAATTCAGTAAAGTTGCAAGATACAAAATCATCATATAAAAATGAGTAGCATTTCTGTATGCCAACAACTAAGAATCTGAAAAAAATCAAGAAAGTAATCCATTTACAATAGCTACAAATAAAATAAACAAAAGTTACAAATAAAATAGGAATAAGCTTAACCAAAGAAGTGAAAGAGCACTATAATGAGTACTATGAAACATTGATGCAAGAAATTAAAGAGCAAATAAAAAAAGGAAAGATACTTCATGTTCATGGATCGGAAGAATTAATATTGTTAAAATTTCCATGCTACCCAACACAATCTACAGATTCAAGGCAATCCCTATTAAAATACCAATGACATTCTTCACAGAAATAGAAAAAAAAAAAGCCTAAAATTTATATAGAACCACCGAAGACCCAGAATAGCCAAAGCTGTCCTGAGTAAAATGAATGAAACTGGAGGAATCGCATTACCTGACTTCAAATTATACTACAGAGCTATAGTAACCAAAACAGCATGGTGCTGGCACAAAAACAGATGCATATACCAATGGAACAGAAGAGAGCCCAGAAATAAGTCCATACACCTACAATGAACTCATTCTCAGCAAAGGTGCCAAGAATATACATTGGGGAAAGACACTCTCTTCAATAAATGGTGTTGGGAAAACTGGATATCCATATGCAGAAGAATGAAACTAGACCCCTATCTCTTGCCATATACAAAAATCAAAATGGATTATAGACTTAAATCTAAGACTTCAAATTATGAAACTACTAACAACAACAACAAAAAACATTCAGAAAACTCTTCAGGACATTAGAGTGGGCAAAGATTTCCTGAGGAATACCCTACAAGCACAGGCAACCAAAGCAAAAATGGACAAATGGGATCACATTAAGTTAAAAAGTTAAGTTCCTTTCCTCTGCATAGCAAAGGAAACACCAAAGTGAAGAGACAGCCCACAGAATGCGAGAAAATATTTGCAAACTATGTATCTGACAAGGGACTAATAACTGGAATATATAAAGATAGGAAAAAAAATTATTCGGATTG
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Task1_train_5934
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This variant impacts the gene FANCD2, LOC107303338 (FA complementation group D2| 3p25 FANCD2 Alu-mediated recombination region) on Chromosome 3. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Fanconi anemia
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GCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGACTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAGAAGTTGTGTTCCCTATGTATGTGGAGTAATATCTCCCTATGTACGTGGAGTAATACACCTATGAAGTGTGGTCTAGAAATTTATTTCTCCTTCTCAGATTGGTGTCTCCGCTGTGCCTGGCTCCGTATTTCCGGTTACTGAGACTTTGTGTGGAGAGACAGCATAACGGAAACTTGGAGGAGATTGATGGTCTACTAGGTATGGGATGAAGTCATCAGATCCTTTCTTCTTTATACTCTTCCTTTGGTAAACTTAGGGAAAGGGCAGATCAATACATGGTGTATGTGGGGAGGAATTTTCTAACTTCAGCAGAATAGTTTATCATTGGAATTCCAAAGACAAAATAGTACATACAGAATCCCATTATGTTAACAAATCAATTGTTGCAAAAACTTTCTAGTTATATTTGTTGATTGCTATATGATATGCAAATATTTTAATCAGATCTTGGCCTTCAAATATGAGTTAAAGGGGAAAGTAAATAGCAAGGACAGCTAGCTCCAGAGGCAACCTCCAGGTTTTATTGGCTTGCACTAAAGGTAGTTGGAAATGTTTGTTCTCTCTCAGATTGTCCTATATTCCTAACTGACCTGGAGCCTGGAGAGAAGTTGGAGTCCATGTCTGCTAAAGAGCGTTCATTCATGTGTTCTCTCATATTTCTTACTCTCAACTGGTTCCGAGAGGTGAGCAGAGTTAATAGGATGTTTCACTTATTGTGCATAGTTTTTCTCAAAACTATTTTCTTAGTTCCCACAAGACTCCCTAGAAGTCTTCACCAAGCACTAACCCCCGTGTGCTTCTCTAGCTGTTATGTCCCACCACTCCCCAGTTATATGAACCTCCTTAGGTAGCCAAATGAGAATACTTAGAATTCACTTCACATTGCCCATGCTTTATTTTCTCCAAGCTGCCTTCTCCCTAGAATGACCTTCTCACCTTCACTGTGGAACTACTGTTCGTCCTGGCACAGGCATATGCCTACTGTTTTGATTCAGTGAGTGGTGGTAGTTTCCCTCCCATTAGAATGTATTTGTGTTTGGTGATAATGACAATGATGGCAACATCTTATATCTCTACCTCACTGTCTTCCTCTCTGATATTATTTCAGGAATGTTTGTGCACTTGAATGAGCTTATTTGATTACCACATCTCTATTATGATACGGGCAGGATAGCTATTGTCCTCATTTTACACATACGAATTTCAATAGGGAGTTCAAAGTCATTAAAAATTTTTAAGTACTTACACTGTACCAAGTGCTGGACTCATTTCTTTATGAAGAAATACTTAGAAAGGTTAAAGACTCAGCCAAGGTCACACAGTAAGTAGCAGTATAGAACTTGTTTCACCAAATTGTGTGCTGTCTGGCTATTCCACCTTGTAACATAACTAGTAATAAGTAAAACTAGGGTCACAAGCCTAATCTCCTTTGTTTTTTGTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGGTGGCTCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCAATTCTCCTTCTTCAGCCTCCCTAGTAGCTGGGATTACAGATGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGCTTTCACCATGTTGGCCAGACTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCCTGGCTGAATCTCCTATATTTTGGGCCAGAGATTTTTTTTCTGTATACCACGTTGTTGAGGACAGTTCTATTACAGACTAAACTCAAAGATCTTGCTTTTCATAGACATCTCTCAGCTCTGGATAAATAATATAAACAAGGTTAAAATCTGAACATTTGGAAGTATGAGAATGTAATTTGTACTTTGCAGATTGTAAATGCCTTCTGCCAGGAAACATCACCTGAGATGAAGGGGAAGGTGCTCACTCGGTTAAAGCACATTGTAGAATTGCAAATAATCCTGGAAAAGTACTTGGCAGGTAAGAGAAGTGTCCTATACTGGTAGTACTACTAGGCCAGTAGTGAGGCAATAAAGCACTTAGCTTTCCCTGATACCAAAACCAGACAAAGACACATCAAAAAAAGAAATCTCAGGCCAATATCCCTGATGAACATTGATACAAAAATCCTAACAAAATACTAGCAAACCTAATTCAGCAACACATTAAAAATATCAGCTGGGCACGAGGTGGCTCACGCCTGTAATCCTAGCACTTTTGGAAGCCAAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTGTACTAAACATACAAAAATTAGCCAGGCGTGGTTGTGGGCACCTGTAATCCCAACTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCCATCTCAAAAACAAACAAAAGAAAGATTATTCATCATGGCCAAATGGGATGATTTATCCCAGGGATGCAAGGATTGTTCAACATATGTAAATCAATGTGATACCTCCTATCAACAGAATGAAGGACAAAAACCACATGATATTTAAATTGATGCTTAAAAAAATTTTATAAAATTCAACATCCTTTCATCATAAAAAACCCTCAGAAAACTGGGTATAGATCCATAGCTACTATTAAACTGAACAGAAAAAAACTGAAAGCCTTTCCTCTAAGATCTGAACAAGACAAGGATACCCACTTATATAATACCACTATTATAAAATACAGTATTGGAAGTCCTAGCTAGAACAATTAGACAAGAGAGAGAAAGAAAGAAAGGGCATCCAAATTGGAAAGGAAGATGTTAAATTATCCTTGTTTGCAGATGATATGATCTTATATTTGGAAAAGCCTAAAGACTCCACCAAAAAACTATTAGATAAATTCAGTAAAGTTGCAAGATACAAAATCATCATATAAAAATGAGTAGCATTTCTGTATGCCAACAACTAAGAATCTGAAAAAAATCAAGAAAGTAATCCATTTACAATAGCTACAAATAAAATAAACAAAAGTTACAAATAAAATAGGAATAAGCTTAACCAAAGAAGTGAAAGAGCACTATAATGAGTACTATGAAACATTGATGCAAGAAATTAAAGAGCAAATAAAAAAAGGAAAGATACTTCATGTTCATGGATCGGAAGAATTAATATTGTTAAAATTTCCATGCTACCCAACACAATCTACAGATTCAAGGCAATCCCTATTAAAATACCAATGACATTCTTCACAGAAATAGAAAAAAAAAAAGCCTAAAATTTATATAGAACCACCGAAGACCCAGAATAGCCAAAGCTGTCCTGAGTAAAATGAATGAAACTGGAGGAATCGCATTACCTGACTTCAAATTATACTACAGAGCTATAGTAACCAAAACAGCATGGTGCTGGCACAAAAACAGATGCATATACCAATGGAACAGAAGAGAGCCCAGAAATAAGTCCATACACCTACAATGAACTCATTCTCAGCAAAGGTGCCAAGAATATACATTGGGGAAAGACACTCTCTTCAATAAATGGTGTTGGGAAAACTGGATATCCATATGCAGAAGAATGAAACTAGACCCCTATCTCTTGCCATATACAAAAATCAAAATGGATTATAGACTTAAATCTAAGACTTCAAATTATGAAACTACTAACAACAACAACAAAAAACATTCAGAAAACTCTTCAGGACATTAGAGTGGGCAAAGATTTCCTGAGGAATACCCTACAAGCACAGGCAACCAAAGCAAAAATGGACAAATGGGATCACATTAAGTTAAAAAGTTAAGTTCCTTTCCTCTGCATAGCAAAGGAAACACCAAAGTGAAGAGACAGCCCACAGAATGCGAGAAAATATTTGCAAACTATGTATCTGACAAGGGACTAATAACTGGAATATATAAAGATAGGAAAAAAAATTATTCGGATTG
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GCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGACTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAGAAGTTGTGTTCCCTATGTATGTGGAGTAATATCTCCCTATGTACGTGGAGTAATACACCTATGAAGTGTGGTCTAGAAATTTATTTCTCCTTCTCAGATTGGTGTCTCCGCTGTGCCTGGCTCCGTATTTCCGGTTACTGAGACTTTGTGTGGAGAGACAGCATAACGGAAACTTGGAGGAGATTGATGGTCTACTAGGTATGGGATGAAGTCATCAGATCCTTTCTTCTTTATACTCTTCCTTTGGTAAACTTAGGGAAAGGGCAGATCAATACATGGTGTATGTGGGGAGGAATTTTCTAACTTCAGCAGAATAGTTTATCATTGGAATTCCAAAGACAAAATAGTACATACAGAATCCCATTATGTTAACAAATCAATTGTTGCAAAAACTTTCTAGTTATATTTGTTGATTGCTATATGATATGCAAATATTTTAATCAGATCTTGGCCTTCAAATATGAGTTAAAGGGGAAAGTAAATAGCAAGGACAGCTAGCTCCAGAGGCAACCTCCAGGTTTTATTGGCTTGCACTAAAGGTAGTTGGAAATGTTTGTTCTCTCTCAGATTGTCCTATATTCCTAACTGACCTGGAGCCTGGAGAGAAGTTGGAGTCCATGTCTGCTAAAGAGCGTTCATTCATGTGTTCTCTCATATTTCTTACTCTCAACTGGTTCCGAGAGGTGAGCAGAGTTAATAGGATGTTTCACTTATTGTGCATAGTTTTTCTCAAAACTATTTTCTTAGTTCCCACAAGACTCCCTAGAAGTCTTCACCAAGCACTAACCCCCGTGTGCTTCTCTAGCTGTTATGTCCCACCACTCCCCAGTTATATGAACCTCCTTAGGTAGCCAAATGAGAATACTTAGAATTCACTTCACATTGCCCATGCTTTATTTTCTCCAAGCTGCCTTCTCCCTAGAATGACCTTCTCACCTTCACTGTGGAACTACTGTTCGTCCTGGCACAGGCATATGCCTACTGTTTTGATTCAGTGAGTGGTGGTAGTTTCCCTCCCATTAGAATGTATTTGTGTTTGGTGATAATGACAATGATGGCAACATCTTATATCTCTACCTCACTGTCTTCCTCTCTGATATTATTTCAGGAATGTTTGTGCACTTGAATGAGCTTATTTGATTACCACATCTCTATTATGATACGGGCAGGATAGCTATTGTCCTCATTTTACACATACGAATTTCAATAGGGAGTTCAAAGTCATTAAAAATTTTTAAGTACTTACACTGTACCAAGTGCTGGACTCATTTCTTTATGAAGAAATACTTAGAAAGGTTAAAGACTCAGCCAAGGTCACACAGTAAGTAGCAGTATAGAACTTGTTTCACCAAATTGTGTGCTGTCTGGCTATTCCACCTTGTAACATAACTAGTAATAAGTAAAACTAGGGTCACAAGCCTAATCTCCTTTGTTTTTTGTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGGTGGCTCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGCAATTCTCCTTCTTCAGCCTCCCTAGTAGCTGGGATTACAGATGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGCTTTCACCATGTTGGCCAGACTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCCTGGCTGAATCTCCTATATTTTGGGCCAGAGATTTTTTTTCTGTATACCACGTTGTTGAGGACAGTTCTATTACAGACTAAACTCAAAGATCTTGCTTTTCATAGACATCTCTCAGCTCTGGATAAATAATATAAACAAGGTTAAAATCTGAACATTTGGAAGTATGAGAATGTAATTTGTACTTTGCAGATTGTAAATGCCTTCTGCCAGGAAACATCACCTGAGATGAAGGGGAAGGTGCTCACTCAGTTAAAGCACATTGTAGAATTGCAAATAATCCTGGAAAAGTACTTGGCAGGTAAGAGAAGTGTCCTATACTGGTAGTACTACTAGGCCAGTAGTGAGGCAATAAAGCACTTAGCTTTCCCTGATACCAAAACCAGACAAAGACACATCAAAAAAAGAAATCTCAGGCCAATATCCCTGATGAACATTGATACAAAAATCCTAACAAAATACTAGCAAACCTAATTCAGCAACACATTAAAAATATCAGCTGGGCACGAGGTGGCTCACGCCTGTAATCCTAGCACTTTTGGAAGCCAAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTGTACTAAACATACAAAAATTAGCCAGGCGTGGTTGTGGGCACCTGTAATCCCAACTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCCATCTCAAAAACAAACAAAAGAAAGATTATTCATCATGGCCAAATGGGATGATTTATCCCAGGGATGCAAGGATTGTTCAACATATGTAAATCAATGTGATACCTCCTATCAACAGAATGAAGGACAAAAACCACATGATATTTAAATTGATGCTTAAAAAAATTTTATAAAATTCAACATCCTTTCATCATAAAAAACCCTCAGAAAACTGGGTATAGATCCATAGCTACTATTAAACTGAACAGAAAAAAACTGAAAGCCTTTCCTCTAAGATCTGAACAAGACAAGGATACCCACTTATATAATACCACTATTATAAAATACAGTATTGGAAGTCCTAGCTAGAACAATTAGACAAGAGAGAGAAAGAAAGAAAGGGCATCCAAATTGGAAAGGAAGATGTTAAATTATCCTTGTTTGCAGATGATATGATCTTATATTTGGAAAAGCCTAAAGACTCCACCAAAAAACTATTAGATAAATTCAGTAAAGTTGCAAGATACAAAATCATCATATAAAAATGAGTAGCATTTCTGTATGCCAACAACTAAGAATCTGAAAAAAATCAAGAAAGTAATCCATTTACAATAGCTACAAATAAAATAAACAAAAGTTACAAATAAAATAGGAATAAGCTTAACCAAAGAAGTGAAAGAGCACTATAATGAGTACTATGAAACATTGATGCAAGAAATTAAAGAGCAAATAAAAAAAGGAAAGATACTTCATGTTCATGGATCGGAAGAATTAATATTGTTAAAATTTCCATGCTACCCAACACAATCTACAGATTCAAGGCAATCCCTATTAAAATACCAATGACATTCTTCACAGAAATAGAAAAAAAAAAAGCCTAAAATTTATATAGAACCACCGAAGACCCAGAATAGCCAAAGCTGTCCTGAGTAAAATGAATGAAACTGGAGGAATCGCATTACCTGACTTCAAATTATACTACAGAGCTATAGTAACCAAAACAGCATGGTGCTGGCACAAAAACAGATGCATATACCAATGGAACAGAAGAGAGCCCAGAAATAAGTCCATACACCTACAATGAACTCATTCTCAGCAAAGGTGCCAAGAATATACATTGGGGAAAGACACTCTCTTCAATAAATGGTGTTGGGAAAACTGGATATCCATATGCAGAAGAATGAAACTAGACCCCTATCTCTTGCCATATACAAAAATCAAAATGGATTATAGACTTAAATCTAAGACTTCAAATTATGAAACTACTAACAACAACAACAAAAAACATTCAGAAAACTCTTCAGGACATTAGAGTGGGCAAAGATTTCCTGAGGAATACCCTACAAGCACAGGCAACCAAAGCAAAAATGGACAAATGGGATCACATTAAGTTAAAAAGTTAAGTTCCTTTCCTCTGCATAGCAAAGGAAACACCAAAGTGAAGAGACAGCCCACAGAATGCGAGAAAATATTTGCAAACTATGTATCTGACAAGGGACTAATAACTGGAATATATAAAGATAGGAAAAAAAATTATTCGGATTG
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Task1_train_5935
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The variant affects gene FANCD2, FANCD2OS (FA complementation group D2| FANCD2 opposite strand), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Fanconi anemia
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CTGGCAAAAGGGCCAGTGGATCAGGAACGTGACAGCTTTTTGTAAGTTGCCTGTTAGACCGGGAACGTCTTAGTAAATCTAAACTAATAATCCTTTTGATCAATAATCATCCTCAAAAACCTGAAAAGCAAGAATGAGGTCAAGTTCCCATATGTAAGATTCCTTTGTCTTCTTTTCTAACAGCTTCCCTTGCCAGACAATTCCTCTGTCGGGTGTGGCCAAGTGGGGATAAAGAGAAGAGCAACATCTCTAATGACCAGCTCCATGCTCTGCTCTGGTGAGATGTTTGGTTTCTTCCAATGAGCCAAATAGCTTTTTTCTATTTTGCTACTGTTGTTTGTCAGAGACTGGACAAATGACCTTTTTAGTGGGAATTTGAAAACAATGAAGTAGGTTAAAAATGAACACAATTTGGAACATGTGGATCTTAAGATCCTCTGGTTCTGTTTTATACTGTTAGCTAACTGCTTATTGTTAATTCAGATCATAGAGGAATTAGAGGAATCTGTAGTTGTATTCTACTTTGTTAATTAGTGGGTCAAATATTTGACTCTCAATGCAGTATCTACCTGGAGCACACAGAGAGCATTCTGAAGGCCATAGAGGAGATTGCTGGTGTTGGTGTCCCAGAACTGATCAACTCTCCTAAAGATGCATCTTCCTCCACATTCCCTACACTGACCAGGTAAGGGAGTTCTTTCCTCCAGTTTTTCCCTTAAGATAGAATCATCATCAGGCTGGGCACGGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACCTTGAGGTCAGGAGTTTTGAGACCCACTTGGCCAACATAGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGTAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCATCTCAAAAAAAAAAAGAATCATAATCACACTGTCCAACGTATATAGCTTCCACACAACTGCCTTGCTCCTCCTCATCTAATTCTGATACAGACAGTAGATATAATCATTCATTCAATAAAGAGAGTCTGTTATGCATTCCTTTCAAGGGCTCTCAGCTAATATATTTGAGAGGACCATGGTGGTTTTTGTTTTGTATTGTTTTGTTTTGTTTTTGAGAAAACTTGTCACCCAGGCTGGAGTGCAGTGGCGTAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACGATTCTCCTACCCCAGCCTTTCAAGTAACTGGGATTATAGGCACCCACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATTGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACCCAACCTCAGGTGATCTGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCTGAGATATTTTAGCCATCTTGAGAACAGGGTGCTCACATGTATGTCTCACTTAATGGGTGTGTGTCTCAGAATATCAATAGTTATCTTAACATTTGTAGTCTTTTCAGTTTATAAAGCACTTTCACTTTATCTCATTTGATCCTTTTGATAATTCTGTGAGGTTGGTATCATTGCCCCTATTTTACTGCTGAGGAAAATGAGAGCTAGAGAACTTCTCAAGCTTACACGTGCAATAAAATAAACATAGAACCAGGACTCAAACTCAGATCTTCTCACTGTTACTTCATTGCTTTTTCCATACTACCATAACACCTCCTTTCATAAAGTTAATTCCATTGTTTGACAGGCAATCTTCTTGGGCTTATTACTGAGTCCTTTCCGCTCCCCCATCCTCTTACTAAGGACCCTAGTGAAAGGACATTTAGAGAGGTAGGGAAGGAAGCTACTTTTGGTTCCTGGTTCTTCCCAGGTAGTTCTAAGCAGTGCATCATGGTGTGGGCACGCATGCTTTTCCCGTCTTCTAGGCATACTTTTGTTGTTTTCTTCCGTGTGATGATGGCTGAACTAGAGAAGACGGTGAAAAAAATTGAGCCTGGCACAGCAGCAGACTCGCAGCAGGTGAGTAAGATAATAGTCACTTCAAGAAGTGGACTTTGGATTACTTGGAAGTTGCTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTTGCTTGTTCTGTTGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGACTCCTGAATAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTTATATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACTTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGACGTGCGCCACTGCGCCCGGTGGTAGTTGCTGATTCTTCTATGTCTTGGGTCCAAGTTTTCTCCTAAGCTGTTTTTTGTTTTTGTTTTGTTTTGAGTTTCTGAGATTCAGGATTTTTTTTCAAAGAGTTCCTAGTTTAATTTCCTTTCCCTCTAGTTAGAGGTGAGGAATGGGCTCTCTTTTCCTTGGCTACTGCCCAGTTTGCCTCCTGCTAACTGGCATGAGGTAAGCCAGCCTGTTTGAGATACTGTGGATCTTGGCAGCCTGCTAACCAGAACGGAGCTAGACAAGTAAGAGAAAGGGCTAGCATAGGGAAGCAGAGAAGCTACAGCCAGTATATGTTTTTTCTTTTTTTTTTCTTTTTGAGACAGGGTCTGAGTCTGACATCCAGGTTGGAGTGTAGTGGTGCAAACTTGGCTCACTGCAGCCTTTGCCTTCTGGGCTCAGATGATCCTCCCACGTCAGCCTCCCAAATAGCTGGGACCACAGGTGCACGCCACCATGCCCGGCTAATTTTTCTATTTTTAGTAGAGGCGGGGTTTTGTCGTGTTGCTCAGGCTGGTCTTGAACTCATAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATAAACCACTGCACCTGGCATAAACCAGTGCAGCCCAGAAGGCAAAGGCTGCAGTGAGCCAAGTTTGCACCACTGCACTCCAACCTGGATGTCAGACTCAGACCCTGTCTCAAAAAGAAAAAAAAAAGAAAAAACATATACCGGCTGTAGCTTCTCTGCTTCCCTATGCTAGCCCTTTCTCTTACTTGTCTAGCTCCGTTCTGGTTAGCAGGCTGCCAAGATCCACAGTATCTCAAACAGGCTGGCTTACCTCATGCCAGTTAGCAGGAGGCAAACTGGGCAGTAGCCAAGGAAAAGAGAGCCCATTCCTCACCTCTAACTAGAGGGAAAGGAAATTAAACTAGGAACTCTTTGAAAAAAAATCCTGAATCTCAGAAACTCAAAACAAAACAAAAACAAAAAACAGCTTAGGAGAAAACTTGGACCCAAGACATAGAAGAATCAGCAACTACCACCGGGTGCAGTGGCGCACGTCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATGAAGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTCAGTATATGTTGCAAAGGCTTTTACTTACTTGGGAATTGCTGAAGAGGAAACTTTTTAGAAAGTCTGTCCCTATGAGGTGTTCTAATGTTACCACAACATGTGCAGGCCTCAGAACCATCTTGTGGATGCACTGGTTGCTACATCTAAGGATAATTGGCTTAAATATCTGTATAGCTATGTAATTCAAGAACTATATCTTAGTGGGAATACAGTAAGGGAAGTATTTGGCTGTGACTCAGAGGTGCCCATATATTTGGCTGCCCCAGATTCATGAAGAGAAACTCCTCTACTGGAACATGGCTGTTCGAGACTTCAGTATCCTCATCAACTTGATAAAGGTGAGTATGGAGACTGCTTGACACATCTCACCAAATAACTGCAGAAACCAAGTGTCCTGGCTTCCAAAATGGACTTTCCTTGCTCCTCTTCCCACTCTTCCTTGGGGCC
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CTGGCAAAAGGGCCAGTGGATCAGGAACGTGACAGCTTTTTGTAAGTTGCCTGTTAGACCGGGAACGTCTTAGTAAATCTAAACTAATAATCCTTTTGATCAATAATCATCCTCAAAAACCTGAAAAGCAAGAATGAGGTCAAGTTCCCATATGTAAGATTCCTTTGTCTTCTTTTCTAACAGCTTCCCTTGCCAGACAATTCCTCTGTCGGGTGTGGCCAAGTGGGGATAAAGAGAAGAGCAACATCTCTAATGACCAGCTCCATGCTCTGCTCTGGTGAGATGTTTGGTTTCTTCCAATGAGCCAAATAGCTTTTTTCTATTTTGCTACTGTTGTTTGTCAGAGACTGGACAAATGACCTTTTTAGTGGGAATTTGAAAACAATGAAGTAGGTTAAAAATGAACACAATTTGGAACATGTGGATCTTAAGATCCTCTGGTTCTGTTTTATACTGTTAGCTAACTGCTTATTGTTAATTCAGATCATAGAGGAATTAGAGGAATCTGTAGTTGTATTCTACTTTGTTAATTAGTGGGTCAAATATTTGACTCTCAATGCAGTATCTACCTGGAGCACACAGAGAGCATTCTGAAGGCCATAGAGGAGATTGCTGGTGTTGGTGTCCCAGAACTGATCAACTCTCCTAAAGATGCATCTTCCTCCACATTCCCTACACTGACCAGGTAAGGGAGTTCTTTCCTCCAGTTTTTCCCTTAAGATAGAATCATCATCAGGCTGGGCACGGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACCTTGAGGTCAGGAGTTTTGAGACCCACTTGGCCAACATAGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGTAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCATCTCAAAAAAAAAAAGAATCATAATCACACTGTCCAACGTATATAGCTTCCACACAACTGCCTTGCTCCTCCTCATCTAATTCTGATACAGACAGTAGATATAATCATTCATTCAATAAAGAGAGTCTGTTATGCATTCCTTTCAAGGGCTCTCAGCTAATATATTTGAGAGGACCATGGTGGTTTTTGTTTTGTATTGTTTTGTTTTGTTTTTGAGAAAACTTGTCACCCAGGCTGGAGTGCAGTGGCGTAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACGATTCTCCTACCCCAGCCTTTCAAGTAACTGGGATTATAGGCACCCACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATTGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACCCAACCTCAGGTGATCTGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCTGAGATATTTTAGCCATCTTGAGAACAGGGTGCTCACATGTATGTCTCACTTAATGGGTGTGTGTCTCAGAATATCAATAGTTATCTTAACATTTGTAGTCTTTTCAGTTTATAAAGCACTTTCACTTTATCTCATTTGATCCTTTTGATAATTCTGTGAGGTTGGTATCATTGCCCCTATTTTACTGCTGAGGAAAATGAGAGCTAGAGAACTTCTCAAGCTTACACGTGCAATAAAATAAACATAGAACCAGGACTCAAACTCAGATCTTCTCACTGTTACTTCATTGCTTTTTCCATACTACCATAACACCTCCTTTCATAAAGTTAATTCCATTGTTTGACAGGCAATCTTCTTGGGCTTATTACTGAGTCCTTTCCGCTCCCCCATCCTCTTACTAAGGACCCTAGTGAAAGGACATTTAGAGAGGTAGGGAAGGAAGCTACTTTTGGTTCCTGGTTCTTCCCAGGTAGTTCTAAGCAGTGCATCATGGTGTGGGCACGCATGCTTTTCCCGTCTTCTAGGCATACTTTTGTTGTTTTCTTCAGTGTGATGATGGCTGAACTAGAGAAGACGGTGAAAAAAATTGAGCCTGGCACAGCAGCAGACTCGCAGCAGGTGAGTAAGATAATAGTCACTTCAAGAAGTGGACTTTGGATTACTTGGAAGTTGCTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTTGCTTGTTCTGTTGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGACTCCTGAATAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTTATATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACTTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGACGTGCGCCACTGCGCCCGGTGGTAGTTGCTGATTCTTCTATGTCTTGGGTCCAAGTTTTCTCCTAAGCTGTTTTTTGTTTTTGTTTTGTTTTGAGTTTCTGAGATTCAGGATTTTTTTTCAAAGAGTTCCTAGTTTAATTTCCTTTCCCTCTAGTTAGAGGTGAGGAATGGGCTCTCTTTTCCTTGGCTACTGCCCAGTTTGCCTCCTGCTAACTGGCATGAGGTAAGCCAGCCTGTTTGAGATACTGTGGATCTTGGCAGCCTGCTAACCAGAACGGAGCTAGACAAGTAAGAGAAAGGGCTAGCATAGGGAAGCAGAGAAGCTACAGCCAGTATATGTTTTTTCTTTTTTTTTTCTTTTTGAGACAGGGTCTGAGTCTGACATCCAGGTTGGAGTGTAGTGGTGCAAACTTGGCTCACTGCAGCCTTTGCCTTCTGGGCTCAGATGATCCTCCCACGTCAGCCTCCCAAATAGCTGGGACCACAGGTGCACGCCACCATGCCCGGCTAATTTTTCTATTTTTAGTAGAGGCGGGGTTTTGTCGTGTTGCTCAGGCTGGTCTTGAACTCATAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATAAACCACTGCACCTGGCATAAACCAGTGCAGCCCAGAAGGCAAAGGCTGCAGTGAGCCAAGTTTGCACCACTGCACTCCAACCTGGATGTCAGACTCAGACCCTGTCTCAAAAAGAAAAAAAAAAGAAAAAACATATACCGGCTGTAGCTTCTCTGCTTCCCTATGCTAGCCCTTTCTCTTACTTGTCTAGCTCCGTTCTGGTTAGCAGGCTGCCAAGATCCACAGTATCTCAAACAGGCTGGCTTACCTCATGCCAGTTAGCAGGAGGCAAACTGGGCAGTAGCCAAGGAAAAGAGAGCCCATTCCTCACCTCTAACTAGAGGGAAAGGAAATTAAACTAGGAACTCTTTGAAAAAAAATCCTGAATCTCAGAAACTCAAAACAAAACAAAAACAAAAAACAGCTTAGGAGAAAACTTGGACCCAAGACATAGAAGAATCAGCAACTACCACCGGGTGCAGTGGCGCACGTCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATGAAGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTCAGTATATGTTGCAAAGGCTTTTACTTACTTGGGAATTGCTGAAGAGGAAACTTTTTAGAAAGTCTGTCCCTATGAGGTGTTCTAATGTTACCACAACATGTGCAGGCCTCAGAACCATCTTGTGGATGCACTGGTTGCTACATCTAAGGATAATTGGCTTAAATATCTGTATAGCTATGTAATTCAAGAACTATATCTTAGTGGGAATACAGTAAGGGAAGTATTTGGCTGTGACTCAGAGGTGCCCATATATTTGGCTGCCCCAGATTCATGAAGAGAAACTCCTCTACTGGAACATGGCTGTTCGAGACTTCAGTATCCTCATCAACTTGATAAAGGTGAGTATGGAGACTGCTTGACACATCTCACCAAATAACTGCAGAAACCAAGTGTCCTGGCTTCCAAAATGGACTTTCCTTGCTCCTCTTCCCACTCTTCCTTGGGGCC
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Task1_train_5936
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A variant has been detected on Chromosome 3 in VHL (von Hippel-Lindau tumor suppressor). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Chuvash polycythemia
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GACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAA
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GACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCACGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAA
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Task1_train_5937
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Chromosome 3 houses a mutation in gene VHL (von Hippel-Lindau tumor suppressor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Von Hippel-Lindau syndrome
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GACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAA
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GACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCACGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAA
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Task1_train_5938
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This mutation is located in gene VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Von Hippel-Lindau syndrome
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GACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAA
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GACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCCCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAA
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Task1_train_5939
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Mutation context: Chromosome 3, Gene VHL (von Hippel-Lindau tumor suppressor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Von Hippel-Lindau syndrome
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTGGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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Task1_train_5940
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Chromosome 3 houses a mutation in gene VHL (von Hippel-Lindau tumor suppressor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Hereditary cancer-predisposing syndrome
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTTGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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Task1_train_5941
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This alteration occurs within gene VHL (von Hippel-Lindau tumor suppressor) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
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Pathogenic; Pancreatic cysts
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTTGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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Task1_train_5942
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This variant affects the gene VHL (von Hippel-Lindau tumor suppressor) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Retinal capillary hemangioma
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTTGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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Task1_train_5943
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The gene VHL (von Hippel-Lindau tumor suppressor) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Spinal hemangioblastoma
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTTGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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Task1_train_5944
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A mutation found in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Cerebellar hemangioblastoma
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTTGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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Task1_train_5945
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A variant has been detected on Chromosome 3 in VHL (von Hippel-Lindau tumor suppressor). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Chuvash polycythemia
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTTGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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Task1_train_5946
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Consider a variant on Chromosome 3 in gene VHL (von Hippel-Lindau tumor suppressor). Determine its clinical classification and disease relevance.
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Pathogenic; Von Hippel-Lindau syndrome
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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ACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTTGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAAC
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Task1_train_5947
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This sequence variant lies in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Von Hippel-Lindau syndrome
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CTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATG
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CTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCCATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATG
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Task1_train_5948
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This alteration occurs within gene VHL (von Hippel-Lindau tumor suppressor) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
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Pathogenic; Chuvash polycythemia
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TGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGA
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TGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCACTCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGA
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Task1_train_5949
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A variant was discovered in gene VHL (von Hippel-Lindau tumor suppressor), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Von Hippel-Lindau syndrome
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TGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGA
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TGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCACTCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGA
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Task1_train_5950
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Given this context: Chromosome 3, gene VHL (von Hippel-Lindau tumor suppressor) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Von Hippel-Lindau syndrome
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TGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGA
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TGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAGTCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGA
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Task1_train_5951
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A genomic change on Chromosome 3 affects VHL (von Hippel-Lindau tumor suppressor). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Von Hippel-Lindau syndrome
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CTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTT
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CTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCCGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTT
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Task1_train_5952
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This gene mutation involves VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Chuvash polycythemia
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TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTG
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TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAATCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTG
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Task1_train_5953
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Here is a genetic alteration in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Von Hippel-Lindau syndrome
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TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTG
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TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAATCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTG
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Task1_train_5954
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This sequence change occurs on Chromosome 3, altering VHL (von Hippel-Lindau tumor suppressor). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Chuvash polycythemia
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TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTG
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TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCATTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTG
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Task1_train_5955
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An alteration has been detected in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Von Hippel-Lindau syndrome
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TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTG
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TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCATTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTG
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Task1_train_5956
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The gene VHL (von Hippel-Lindau tumor suppressor), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Von Hippel-Lindau syndrome
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TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTG
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TTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCATTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTG
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Task1_train_5957
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This alteration occurs within gene VHL (von Hippel-Lindau tumor suppressor) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
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Pathogenic; Von Hippel-Lindau syndrome
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GATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTT
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GATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCCCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTT
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Task1_train_5958
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A variant affecting Chromosome 3, within the gene VHL (von Hippel-Lindau tumor suppressor), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Hereditary cancer-predisposing syndrome
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCCTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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Task1_train_5959
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This alteration in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Von Hippel-Lindau syndrome
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCCTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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Task1_train_5960
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Here is a genetic alteration in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Chuvash polycythemia
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCCTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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Task1_train_5961
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This sequence variant lies in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Von Hippel-Lindau syndrome
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCCTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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Task1_train_5962
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Given this variant in gene VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Von Hippel-Lindau syndrome
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCTTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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Task1_train_5963
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Chromosome 3 houses a mutation in gene VHL (von Hippel-Lindau tumor suppressor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Hereditary cancer-predisposing syndrome
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCTTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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Task1_train_5964
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A variant was discovered in gene VHL (von Hippel-Lindau tumor suppressor), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Chuvash polycythemia
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCTTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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Task1_train_5965
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Here is a variant affecting VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Von Hippel-Lindau syndrome
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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TTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCTTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCC
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Task1_train_5966
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This variant lies on Chromosome 3 and affects the gene VHL (von Hippel-Lindau tumor suppressor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Von Hippel-Lindau syndrome
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TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTT
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TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCGCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTT
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Task1_train_5967
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Consider this mutation in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Is this a benign change or a disease-causing variant?
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Pathogenic; Chuvash polycythemia
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TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTT
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TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCGCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTT
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Task1_train_5968
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This mutation occurs in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Von Hippel-Lindau syndrome
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TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTT
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TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCGCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTT
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Task1_train_5969
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The gene VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Hereditary cancer-predisposing syndrome
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TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTT
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TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCGCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTT
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Task1_train_5970
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Gene VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Von Hippel-Lindau syndrome
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TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTT
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TCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCTCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTT
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Task1_train_5971
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The following genetic variant occurs in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Von Hippel-Lindau syndrome
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTAAGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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Task1_train_5972
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The variant affects gene VHL (von Hippel-Lindau tumor suppressor), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Chuvash polycythemia
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTAAGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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Task1_train_5973
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A variant was discovered on Chromosome 3, affecting VHL (von Hippel-Lindau tumor suppressor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Chuvash polycythemia
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTAAGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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Task1_train_5974
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A variant on Chromosome 3 in gene VHL (von Hippel-Lindau tumor suppressor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Von Hippel-Lindau syndrome
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTAAGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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Task1_train_5975
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A genomic change on Chromosome 3 affects VHL (von Hippel-Lindau tumor suppressor). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Hereditary cancer-predisposing syndrome
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTAAGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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Task1_train_5976
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Consider a variant on Chromosome 3 in gene VHL (von Hippel-Lindau tumor suppressor). Determine its clinical classification and disease relevance.
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Pathogenic; Von Hippel-Lindau syndrome
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTACGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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Task1_train_5977
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This mutation occurs in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Chuvash polycythemia
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTACGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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Task1_train_5978
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Gene VHL (von Hippel-Lindau tumor suppressor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Von Hippel-Lindau syndrome
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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TTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTACGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTG
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Task1_train_5979
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Chromosome 3 houses a mutation in gene VHL (von Hippel-Lindau tumor suppressor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Von Hippel-Lindau syndrome
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TGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGT
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TGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATCGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGT
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Task1_train_5980
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This variant impacts the gene VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Von Hippel-Lindau syndrome
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GAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTG
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GAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGCCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTG
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Task1_train_5981
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Chromosome 3 houses a mutation in gene VHL (von Hippel-Lindau tumor suppressor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Chuvash polycythemia
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GAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTG
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GAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGCCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTG
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Task1_train_5982
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This sequence change occurs on Chromosome 3, altering VHL (von Hippel-Lindau tumor suppressor). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Hereditary cancer-predisposing syndrome
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GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATAT
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GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACAGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATAT
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Task1_train_5983
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Mutation context: Chromosome 3, Gene VHL (von Hippel-Lindau tumor suppressor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Chuvash polycythemia
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GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATAT
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GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACAGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATAT
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Task1_train_5984
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The following genetic variant occurs in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Von Hippel-Lindau syndrome
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GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATAT
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GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACAGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATAT
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Task1_train_5985
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This alteration occurs within gene VHL (von Hippel-Lindau tumor suppressor) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
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Pathogenic; Chuvash polycythemia
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GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATAT
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GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACAGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATAT
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Task1_train_5986
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This variant lies on Chromosome 3 and affects the gene VHL (von Hippel-Lindau tumor suppressor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Von Hippel-Lindau syndrome
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GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATAT
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GAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACTGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATAT
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Task1_train_5987
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The gene VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Von Hippel-Lindau syndrome
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AGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATA
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AGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGACGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATA
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Task1_train_5988
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A genomic change on Chromosome 3 affects VHL (von Hippel-Lindau tumor suppressor). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Von Hippel-Lindau syndrome
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AGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATA
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AGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGACGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATA
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Task1_train_5989
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This variant lies on Chromosome 3 and affects the gene VHL (von Hippel-Lindau tumor suppressor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Chuvash polycythemia
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AGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATA
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AGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGACGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATA
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Task1_train_5990
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Given this context: Chromosome 3, gene VHL (von Hippel-Lindau tumor suppressor) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Chuvash polycythemia
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GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGC
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GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCCACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGC
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Task1_train_5991
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This variant affects the gene VHL (von Hippel-Lindau tumor suppressor) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Von Hippel-Lindau syndrome
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GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGC
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GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCCACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGC
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Task1_train_5992
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This mutation occurs in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Hereditary cancer-predisposing syndrome
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GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGC
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GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCCACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGC
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Task1_train_5993
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This genomic variant is located on Chromosome 3, within the VHL (von Hippel-Lindau tumor suppressor) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Von Hippel-Lindau syndrome
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GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGC
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GCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCCACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGC
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Task1_train_5994
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A mutation in VHL (von Hippel-Lindau tumor suppressor), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Von Hippel-Lindau syndrome
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CTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCC
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CTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTGCCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCC
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Task1_train_5995
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Here is a genetic alteration in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Chuvash polycythemia
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CTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCC
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CTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTGCCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCC
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Task1_train_5996
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This alteration in VHL (von Hippel-Lindau tumor suppressor) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Von Hippel-Lindau syndrome
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ACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCC
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ACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCCCGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCC
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Task1_train_5997
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This alteration occurs within gene VHL (von Hippel-Lindau tumor suppressor) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
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Pathogenic; Hereditary cancer-predisposing syndrome
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AAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATC
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AAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCACCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATC
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Task1_train_5998
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Here’s a variant in VHL (von Hippel-Lindau tumor suppressor) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Chuvash polycythemia
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AAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATC
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AAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCACCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATC
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Task1_train_5999
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A genomic change on Chromosome 3 affects VHL (von Hippel-Lindau tumor suppressor). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Von Hippel-Lindau syndrome
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AAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATC
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AAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCACCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATC
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Subsets and Splits
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