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_24200
|
The gene HNF1B (HNF1 homeobox B), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Renal cysts and diabetes syndrome
|
CACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAACAACAATCTCTTGAAGAGGCTGTTGTATTTGTAAAACGTCCCTTCCTCAGCATCTTGAGAAACTTTCTGGACCTCTGTCTTTTGAGAAGTTTCCAGTCTGCCTTTCCTGCCTCCTTCTCCTTTCTGAAGAAATTCTCATTGAATACAGAGAGGCAGCACAGACTGGAAATGCTGCATAAAGCTTAAATTGGGCAGGGCCCAAGCGTTGTTGGGTCTTTGGAGACAATGGCTCCTGAGAATTTTTTTAGGCTTTCCAGGAACTACAGAGAGTTGCTTCATGTCAGGAACACAAATTCTTAAAGAGCTAGTCACCAAGTATGGGGGGCCAACCCATTCTTGGAAAGGTCTCTCGCTCTAAGCAGCAAACAGCTCTCATGTTGCTTCTTCCAATCTATTCATGTAATGCTCCCAACAAAAGCACAAACACCACAATATGAAATGAACACCTAAAACCATTCCTTTCACCAGCCCAGGGACATTGAGACAATAAATACTGAAACAATCACTTCAGAGCAGTGTGTAACAGAAGACAAGAGTCATTTTAAAAAGCAACAGGGAAAAAACCCAACCCAGAAACCCAGATAGTGGTGGAAATTAACATCTTGATAAAGACAGAGAAGCCTAGATAAAGCCAGAGGATAGTGTGTGGGGAGAGTGAAAACCGATACAAATTTTCCAGGAAAAGGATTGGATCAAAGTAATGAAAGTGTAATGTCAAAGAATACTTTCCTAAAATACAGACAGTATGTCATTCCTACTCTTGTTATTCATAGGCAGTTCAAACTTCTCTAGACGTACTTCAAAACAAAAACCTTTTAGAATTATTGGGTGGGAGAAATCTTGGGACAGAAAAAAAACTTTGGGATGGGAATGGGGATGACAAGAATTGATGGGTCAGAGTTCCAAATGCAGATGCTTTTCCTGTGCCCTGCCTTAGCCAGAAATAGCTTCTTCATGAGCAGGGCCACCAGCTGAGGTCCCCACACTCTACCAGTGTTGGTAAATGTGGGTAAACACCTTAAATTGCCTCAGGATTCAATCCCTCCCACTATCCTCCAAGAACAGGGTGAAGTTCTGAATATATCTCTCTATACAAATGCATTCTATTGTTGATACTTTTTCCAGAGAGGAGGAAATTAACAGTAATAGTAATCAATATTATTGACTGCAACGAAATGTCTTCTTTGGAAATTGACTGATGGTCACGTATCAAGGGGAGATGCTGGGTTTTCTCTCAGGGAAGACATTTCACTCTGTCACCTACTTGGTTTCAAAGAGAAGGAGGTGGAAGGAGGGGCCAAAAAGTTTAAGGTATGCTGCATACACTGACAGGCTCCTCAGAGCAACTGGCTGGGTAGCAAGGGGGCTGTGACTGAAGAACATGACAGAAGCCAATCCATTGTACAGCAACCACCAAGGCCAAATCTACTTGCCACCTTCCTCATATCTGCCAAGTGCTCACAAGGCCTTGTCGATGAAAGGGAAACTGAGGCAGCCAATGGGGTGAGAGGGCAAAGGTCACTTCAGGTTGAGGCAGAGGCAGGATGAAAACACTTACGTCGGAGGATCTCTCGTTGCTTTCTGACGTACCAGGTGTACAGAGCGGCACGCTTCTGGGTCTTCATAGGGGTGCCCTTGTTGAGATGCTGGGAGAGGTGCGACTGGTTCAGGCCGGTGACATCGACCACCTCCCTCTGGGGGATGTTGTGTTGCTGCATGTAACCCTTGATCATTTTAGCAGCCCTCCAAGGGTCCTCACTAGACAGACAAGCAGATGGTTAGGGTACTAGTGGGAGACATCTGGGGAGAAACATTCTTTTTCTAGGGGGTGCTACCTATGGTCTATGCAAAATTCTGAATTTTCCCCCCATCTAAGCTACAACTTTGGGGTAGACATGAGGCCAAAATGGAAGCTAAACAGAGGAGAAGGTGACTGCCCCTGTACGGTACACCTCATCCCTTTCTTCTGAGGTTAGTGGGCAAAAGAGGACTTCCCATCTTCAGGAATAAAAAAGCACCACCACCACTCTCTCTTATTAAGCAAAAAGAAAAGCTCTTGTTTTATTTAATTAATTAATTAATTTATTTATTATTATTTTTTTTGATGTGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAACGGCATCTTGGCTCACTGCAACCTCCACCAGGATCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAACTGGGATTATAGATGCCCAGCACCACACCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCACACTCCTGACCTTAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCCATTTTATTTTGCTTTCCTCCATTTTCCTGCAATGTGGGAGATTTAAAAGGCAGGAGGCCCACTGGAAAGTGGGGATGCCTTTAGCTTGGGGCTGGACTCCCTGATCCTACAATGAAGTAGGGATAGCATCAGTTTCTGAATTTGCCCAATTTTAGCTTCAACCTCTCCTACATTATTTTCCTTTTGAATGGGTATCTCCATTTCTTATAAAACAGGGGTGAAATGTATGTGTTCACCTTCTAAGAAGCAAGGAGGATGTCTTAGCCAAATAGTAAATAATTTTCAGAGTTTTAGAAAAGTTTTCCAAAATACAATGTTGTATCTCCTTGGGACGGGAGGATCACACCACTGAGGTGAGGCAAGTAGTTAAAAAAAAAAAAAATCCACAGCTCCACCTTCCAGACAAAATCTACTGGGCTAATGGGGACAAATAACTTCAATTTCGGACATTAACAATTTTAGATGCTTGTTTTCCTGTATTATGTTTCTCATAAATTTTAAATACTGGATAAGAACATGGTTATACTTTTCATTTCTCATAAACACAGGTGTGTAAACTGCTAGTTTTAGCACCTTTGAATTTTATTTGTCTAGAATGGTTTCAACTTTGCCAATATCTTTTCTTGCTTATTGAACAGATGCTTTGAAAAGAGAGATATAATTTAAAACTAGAAATTAAAATAGTGTGCAGCACAGAACAAAAGTACTAAAGAAGCAATATATACATGTTTACTATTTATTTAATGCAGGTACATATTTAACTTACAAAAACCAGCACCCCATTACTGTATGTTGATATATATATTAGCTTGATAGAACAAGAAAAAAAACGGAAGGGAAAACTAGTTTCAGGTGAAACAAAAAAGAAAACGGTGTAGAGGCTGAAATAGATACAGCATTGCAACATAATAAGCAATTTTATTTCTAAATGGCGCCTTTAAATATGTCAAATAAAATTAATTCTGTTTAATGAATAAAAATCCAGTAATCGAACATATTTTATAAGCATTTGGGTAGTTGTGATTATTTTATTAAGACTTTGATATTAAACTCGTGAGAACACAGGCTTTGATAGAGATGTTTTTGAGAAATGCAAACTTTTTATATTAATTATATATAAGAACGAATTTCTCAAGTATTTACAAAGGTAATTTCCAAGTACACAATATGAGGAAGTAACAAGAAGAACAAAAAATGAGAAAACGAGTTACAGTTTCAAACGTGGAGAATTCACATTAAGAGGAAAATAATGTAATAAACGTTTTAGACATATCCTTGTAAACAT
|
CACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAACAACAATCTCTTGAAGAGGCTGTTGTATTTGTAAAACGTCCCTTCCTCAGCATCTTGAGAAACTTTCTGGACCTCTGTCTTTTGAGAAGTTTCCAGTCTGCCTTTCCTGCCTCCTTCTCCTTTCTGAAGAAATTCTCATTGAATACAGAGAGGCAGCACAGACTGGAAATGCTGCATAAAGCTTAAATTGGGCAGGGCCCAAGCGTTGTTGGGTCTTTGGAGACAATGGCTCCTGAGAATTTTTTTAGGCTTTCCAGGAACTACAGAGAGTTGCTTCATGTCAGGAACACAAATTCTTAAAGAGCTAGTCACCAAGTATGGGGGGCCAACCCATTCTTGGAAAGGTCTCTCGCTCTAAGCAGCAAACAGCTCTCATGTTGCTTCTTCCAATCTATTCATGTAATGCTCCCAACAAAAGCACAAACACCACAATATGAAATGAACACCTAAAACCATTCCTTTCACCAGCCCAGGGACATTGAGACAATAAATACTGAAACAATCACTTCAGAGCAGTGTGTAACAGAAGACAAGAGTCATTTTAAAAAGCAACAGGGAAAAAACCCAACCCAGAAACCCAGATAGTGGTGGAAATTAACATCTTGATAAAGACAGAGAAGCCTAGATAAAGCCAGAGGATAGTGTGTGGGGAGAGTGAAAACCGATACAAATTTTCCAGGAAAAGGATTGGATCAAAGTAATGAAAGTGTAATGTCAAAGAATACTTTCCTAAAATACAGACAGTATGTCATTCCTACTCTTGTTATTCATAGGCAGTTCAAACTTCTCTAGACGTACTTCAAAACAAAAACCTTTTAGAATTATTGGGTGGGAGAAATCTTGGGACAGAAAAAAAACTTTGGGATGGGAATGGGGATGACAAGAATTGATGGGTCAGAGTTCCAAATGCAGATGCTTTTCCTGTGCCCTGCCTTAGCCAGAAATAGCTTCTTCATGAGCAGGGCCACCAGCTGAGGTCCCCACACTCTACCAGTGTTGGTAAATGTGGGTAAACACCTTAAATTGCCTCAGGATTCAATCCCTCCCACTATCCTCCAAGAACAGGGTGAAGTTCTGAATATATCTCTCTATACAAATGCATTCTATTGTTGATACTTTTTCCAGAGAGGAGGAAATTAACAGTAATAGTAATCAATATTATTGACTGCAACGAAATGTCTTCTTTGGAAATTGACTGATGGTCACGTATCAAGGGGAGATGCTGGGTTTTCTCTCAGGGAAGACATTTCACTCTGTCACCTACTTGGTTTCAAAGAGAAGGAGGTGGAAGGAGGGGCCAAAAAGTTTAAGGTATGCTGCATACACTGACAGGCTCCTCAGAGCAACTGGCTGGGTAGCAAGGGGGCTGTGACTGAAGAACATGACAGAAGCCAATCCATTGTACAGCAACCACCAAGGCCAAATCTACTTGCCACCTTCCTCATATCTGCCAAGTGCTCACAAGGCCTTGTCGATGAAAGGGAAACTGAGGCAGCCAATGGGGTGAGAGGGCAAAGGTCACTTCAGGTTGAGGCAGAGGCAGGATGAAAACACTTACGTCGGAGGATCTCTCGTTGCTTTCTGACGTACCAGGTGTACAGAGCGGCACGCTTCTGGGTCTTCACAGGGGTGCCCTTGTTGAGATGCTGGGAGAGGTGCGACTGGTTCAGGCCGGTGACATCGACCACCTCCCTCTGGGGGATGTTGTGTTGCTGCATGTAACCCTTGATCATTTTAGCAGCCCTCCAAGGGTCCTCACTAGACAGACAAGCAGATGGTTAGGGTACTAGTGGGAGACATCTGGGGAGAAACATTCTTTTTCTAGGGGGTGCTACCTATGGTCTATGCAAAATTCTGAATTTTCCCCCCATCTAAGCTACAACTTTGGGGTAGACATGAGGCCAAAATGGAAGCTAAACAGAGGAGAAGGTGACTGCCCCTGTACGGTACACCTCATCCCTTTCTTCTGAGGTTAGTGGGCAAAAGAGGACTTCCCATCTTCAGGAATAAAAAAGCACCACCACCACTCTCTCTTATTAAGCAAAAAGAAAAGCTCTTGTTTTATTTAATTAATTAATTAATTTATTTATTATTATTTTTTTTGATGTGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAACGGCATCTTGGCTCACTGCAACCTCCACCAGGATCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAACTGGGATTATAGATGCCCAGCACCACACCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCACACTCCTGACCTTAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCCATTTTATTTTGCTTTCCTCCATTTTCCTGCAATGTGGGAGATTTAAAAGGCAGGAGGCCCACTGGAAAGTGGGGATGCCTTTAGCTTGGGGCTGGACTCCCTGATCCTACAATGAAGTAGGGATAGCATCAGTTTCTGAATTTGCCCAATTTTAGCTTCAACCTCTCCTACATTATTTTCCTTTTGAATGGGTATCTCCATTTCTTATAAAACAGGGGTGAAATGTATGTGTTCACCTTCTAAGAAGCAAGGAGGATGTCTTAGCCAAATAGTAAATAATTTTCAGAGTTTTAGAAAAGTTTTCCAAAATACAATGTTGTATCTCCTTGGGACGGGAGGATCACACCACTGAGGTGAGGCAAGTAGTTAAAAAAAAAAAAAATCCACAGCTCCACCTTCCAGACAAAATCTACTGGGCTAATGGGGACAAATAACTTCAATTTCGGACATTAACAATTTTAGATGCTTGTTTTCCTGTATTATGTTTCTCATAAATTTTAAATACTGGATAAGAACATGGTTATACTTTTCATTTCTCATAAACACAGGTGTGTAAACTGCTAGTTTTAGCACCTTTGAATTTTATTTGTCTAGAATGGTTTCAACTTTGCCAATATCTTTTCTTGCTTATTGAACAGATGCTTTGAAAAGAGAGATATAATTTAAAACTAGAAATTAAAATAGTGTGCAGCACAGAACAAAAGTACTAAAGAAGCAATATATACATGTTTACTATTTATTTAATGCAGGTACATATTTAACTTACAAAAACCAGCACCCCATTACTGTATGTTGATATATATATTAGCTTGATAGAACAAGAAAAAAAACGGAAGGGAAAACTAGTTTCAGGTGAAACAAAAAAGAAAACGGTGTAGAGGCTGAAATAGATACAGCATTGCAACATAATAAGCAATTTTATTTCTAAATGGCGCCTTTAAATATGTCAAATAAAATTAATTCTGTTTAATGAATAAAAATCCAGTAATCGAACATATTTTATAAGCATTTGGGTAGTTGTGATTATTTTATTAAGACTTTGATATTAAACTCGTGAGAACACAGGCTTTGATAGAGATGTTTTTGAGAAATGCAAACTTTTTATATTAATTATATATAAGAACGAATTTCTCAAGTATTTACAAAGGTAATTTCCAAGTACACAATATGAGGAAGTAACAAGAAGAACAAAAAATGAGAAAACGAGTTACAGTTTCAAACGTGGAGAATTCACATTAAGAGGAAAATAATGTAATAAACGTTTTAGACATATCCTTGTAAACAT
|
Task1_train_24201
|
This variant lies on Chromosome 17 and affects the gene HNF1B (HNF1 homeobox B). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Renal cysts and diabetes syndrome
|
GCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAACAACAATCTCTTGAAGAGGCTGTTGTATTTGTAAAACGTCCCTTCCTCAGCATCTTGAGAAACTTTCTGGACCTCTGTCTTTTGAGAAGTTTCCAGTCTGCCTTTCCTGCCTCCTTCTCCTTTCTGAAGAAATTCTCATTGAATACAGAGAGGCAGCACAGACTGGAAATGCTGCATAAAGCTTAAATTGGGCAGGGCCCAAGCGTTGTTGGGTCTTTGGAGACAATGGCTCCTGAGAATTTTTTTAGGCTTTCCAGGAACTACAGAGAGTTGCTTCATGTCAGGAACACAAATTCTTAAAGAGCTAGTCACCAAGTATGGGGGGCCAACCCATTCTTGGAAAGGTCTCTCGCTCTAAGCAGCAAACAGCTCTCATGTTGCTTCTTCCAATCTATTCATGTAATGCTCCCAACAAAAGCACAAACACCACAATATGAAATGAACACCTAAAACCATTCCTTTCACCAGCCCAGGGACATTGAGACAATAAATACTGAAACAATCACTTCAGAGCAGTGTGTAACAGAAGACAAGAGTCATTTTAAAAAGCAACAGGGAAAAAACCCAACCCAGAAACCCAGATAGTGGTGGAAATTAACATCTTGATAAAGACAGAGAAGCCTAGATAAAGCCAGAGGATAGTGTGTGGGGAGAGTGAAAACCGATACAAATTTTCCAGGAAAAGGATTGGATCAAAGTAATGAAAGTGTAATGTCAAAGAATACTTTCCTAAAATACAGACAGTATGTCATTCCTACTCTTGTTATTCATAGGCAGTTCAAACTTCTCTAGACGTACTTCAAAACAAAAACCTTTTAGAATTATTGGGTGGGAGAAATCTTGGGACAGAAAAAAAACTTTGGGATGGGAATGGGGATGACAAGAATTGATGGGTCAGAGTTCCAAATGCAGATGCTTTTCCTGTGCCCTGCCTTAGCCAGAAATAGCTTCTTCATGAGCAGGGCCACCAGCTGAGGTCCCCACACTCTACCAGTGTTGGTAAATGTGGGTAAACACCTTAAATTGCCTCAGGATTCAATCCCTCCCACTATCCTCCAAGAACAGGGTGAAGTTCTGAATATATCTCTCTATACAAATGCATTCTATTGTTGATACTTTTTCCAGAGAGGAGGAAATTAACAGTAATAGTAATCAATATTATTGACTGCAACGAAATGTCTTCTTTGGAAATTGACTGATGGTCACGTATCAAGGGGAGATGCTGGGTTTTCTCTCAGGGAAGACATTTCACTCTGTCACCTACTTGGTTTCAAAGAGAAGGAGGTGGAAGGAGGGGCCAAAAAGTTTAAGGTATGCTGCATACACTGACAGGCTCCTCAGAGCAACTGGCTGGGTAGCAAGGGGGCTGTGACTGAAGAACATGACAGAAGCCAATCCATTGTACAGCAACCACCAAGGCCAAATCTACTTGCCACCTTCCTCATATCTGCCAAGTGCTCACAAGGCCTTGTCGATGAAAGGGAAACTGAGGCAGCCAATGGGGTGAGAGGGCAAAGGTCACTTCAGGTTGAGGCAGAGGCAGGATGAAAACACTTACGTCGGAGGATCTCTCGTTGCTTTCTGACGTACCAGGTGTACAGAGCGGCACGCTTCTGGGTCTTCATAGGGGTGCCCTTGTTGAGATGCTGGGAGAGGTGCGACTGGTTCAGGCCGGTGACATCGACCACCTCCCTCTGGGGGATGTTGTGTTGCTGCATGTAACCCTTGATCATTTTAGCAGCCCTCCAAGGGTCCTCACTAGACAGACAAGCAGATGGTTAGGGTACTAGTGGGAGACATCTGGGGAGAAACATTCTTTTTCTAGGGGGTGCTACCTATGGTCTATGCAAAATTCTGAATTTTCCCCCCATCTAAGCTACAACTTTGGGGTAGACATGAGGCCAAAATGGAAGCTAAACAGAGGAGAAGGTGACTGCCCCTGTACGGTACACCTCATCCCTTTCTTCTGAGGTTAGTGGGCAAAAGAGGACTTCCCATCTTCAGGAATAAAAAAGCACCACCACCACTCTCTCTTATTAAGCAAAAAGAAAAGCTCTTGTTTTATTTAATTAATTAATTAATTTATTTATTATTATTTTTTTTGATGTGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAACGGCATCTTGGCTCACTGCAACCTCCACCAGGATCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAACTGGGATTATAGATGCCCAGCACCACACCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCACACTCCTGACCTTAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCCATTTTATTTTGCTTTCCTCCATTTTCCTGCAATGTGGGAGATTTAAAAGGCAGGAGGCCCACTGGAAAGTGGGGATGCCTTTAGCTTGGGGCTGGACTCCCTGATCCTACAATGAAGTAGGGATAGCATCAGTTTCTGAATTTGCCCAATTTTAGCTTCAACCTCTCCTACATTATTTTCCTTTTGAATGGGTATCTCCATTTCTTATAAAACAGGGGTGAAATGTATGTGTTCACCTTCTAAGAAGCAAGGAGGATGTCTTAGCCAAATAGTAAATAATTTTCAGAGTTTTAGAAAAGTTTTCCAAAATACAATGTTGTATCTCCTTGGGACGGGAGGATCACACCACTGAGGTGAGGCAAGTAGTTAAAAAAAAAAAAAATCCACAGCTCCACCTTCCAGACAAAATCTACTGGGCTAATGGGGACAAATAACTTCAATTTCGGACATTAACAATTTTAGATGCTTGTTTTCCTGTATTATGTTTCTCATAAATTTTAAATACTGGATAAGAACATGGTTATACTTTTCATTTCTCATAAACACAGGTGTGTAAACTGCTAGTTTTAGCACCTTTGAATTTTATTTGTCTAGAATGGTTTCAACTTTGCCAATATCTTTTCTTGCTTATTGAACAGATGCTTTGAAAAGAGAGATATAATTTAAAACTAGAAATTAAAATAGTGTGCAGCACAGAACAAAAGTACTAAAGAAGCAATATATACATGTTTACTATTTATTTAATGCAGGTACATATTTAACTTACAAAAACCAGCACCCCATTACTGTATGTTGATATATATATTAGCTTGATAGAACAAGAAAAAAAACGGAAGGGAAAACTAGTTTCAGGTGAAACAAAAAAGAAAACGGTGTAGAGGCTGAAATAGATACAGCATTGCAACATAATAAGCAATTTTATTTCTAAATGGCGCCTTTAAATATGTCAAATAAAATTAATTCTGTTTAATGAATAAAAATCCAGTAATCGAACATATTTTATAAGCATTTGGGTAGTTGTGATTATTTTATTAAGACTTTGATATTAAACTCGTGAGAACACAGGCTTTGATAGAGATGTTTTTGAGAAATGCAAACTTTTTATATTAATTATATATAAGAACGAATTTCTCAAGTATTTACAAAGGTAATTTCCAAGTACACAATATGAGGAAGTAACAAGAAGAACAAAAAATGAGAAAACGAGTTACAGTTTCAAACGTGGAGAATTCACATTAAGAGGAAAATAATGTAATAAACGTTTTAGACATATCCTTGTAAACATCACAGATCATTT
|
GCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAACAACAATCTCTTGAAGAGGCTGTTGTATTTGTAAAACGTCCCTTCCTCAGCATCTTGAGAAACTTTCTGGACCTCTGTCTTTTGAGAAGTTTCCAGTCTGCCTTTCCTGCCTCCTTCTCCTTTCTGAAGAAATTCTCATTGAATACAGAGAGGCAGCACAGACTGGAAATGCTGCATAAAGCTTAAATTGGGCAGGGCCCAAGCGTTGTTGGGTCTTTGGAGACAATGGCTCCTGAGAATTTTTTTAGGCTTTCCAGGAACTACAGAGAGTTGCTTCATGTCAGGAACACAAATTCTTAAAGAGCTAGTCACCAAGTATGGGGGGCCAACCCATTCTTGGAAAGGTCTCTCGCTCTAAGCAGCAAACAGCTCTCATGTTGCTTCTTCCAATCTATTCATGTAATGCTCCCAACAAAAGCACAAACACCACAATATGAAATGAACACCTAAAACCATTCCTTTCACCAGCCCAGGGACATTGAGACAATAAATACTGAAACAATCACTTCAGAGCAGTGTGTAACAGAAGACAAGAGTCATTTTAAAAAGCAACAGGGAAAAAACCCAACCCAGAAACCCAGATAGTGGTGGAAATTAACATCTTGATAAAGACAGAGAAGCCTAGATAAAGCCAGAGGATAGTGTGTGGGGAGAGTGAAAACCGATACAAATTTTCCAGGAAAAGGATTGGATCAAAGTAATGAAAGTGTAATGTCAAAGAATACTTTCCTAAAATACAGACAGTATGTCATTCCTACTCTTGTTATTCATAGGCAGTTCAAACTTCTCTAGACGTACTTCAAAACAAAAACCTTTTAGAATTATTGGGTGGGAGAAATCTTGGGACAGAAAAAAAACTTTGGGATGGGAATGGGGATGACAAGAATTGATGGGTCAGAGTTCCAAATGCAGATGCTTTTCCTGTGCCCTGCCTTAGCCAGAAATAGCTTCTTCATGAGCAGGGCCACCAGCTGAGGTCCCCACACTCTACCAGTGTTGGTAAATGTGGGTAAACACCTTAAATTGCCTCAGGATTCAATCCCTCCCACTATCCTCCAAGAACAGGGTGAAGTTCTGAATATATCTCTCTATACAAATGCATTCTATTGTTGATACTTTTTCCAGAGAGGAGGAAATTAACAGTAATAGTAATCAATATTATTGACTGCAACGAAATGTCTTCTTTGGAAATTGACTGATGGTCACGTATCAAGGGGAGATGCTGGGTTTTCTCTCAGGGAAGACATTTCACTCTGTCACCTACTTGGTTTCAAAGAGAAGGAGGTGGAAGGAGGGGCCAAAAAGTTTAAGGTATGCTGCATACACTGACAGGCTCCTCAGAGCAACTGGCTGGGTAGCAAGGGGGCTGTGACTGAAGAACATGACAGAAGCCAATCCATTGTACAGCAACCACCAAGGCCAAATCTACTTGCCACCTTCCTCATATCTGCCAAGTGCTCACAAGGCCTTGTCGATGAAAGGGAAACTGAGGCAGCCAATGGGGTGAGAGGGCAAAGGTCACTTCAGGTTGAGGCAGAGGCAGGATGAAAACACTTACGTCGGAGGATCTCTCGTTGCTTTCTGACGTACCAGGTGTACAGAGCGGCACGCTTCTGGGTCTTCATAGGGGTGCCCTCGTTGAGATGCTGGGAGAGGTGCGACTGGTTCAGGCCGGTGACATCGACCACCTCCCTCTGGGGGATGTTGTGTTGCTGCATGTAACCCTTGATCATTTTAGCAGCCCTCCAAGGGTCCTCACTAGACAGACAAGCAGATGGTTAGGGTACTAGTGGGAGACATCTGGGGAGAAACATTCTTTTTCTAGGGGGTGCTACCTATGGTCTATGCAAAATTCTGAATTTTCCCCCCATCTAAGCTACAACTTTGGGGTAGACATGAGGCCAAAATGGAAGCTAAACAGAGGAGAAGGTGACTGCCCCTGTACGGTACACCTCATCCCTTTCTTCTGAGGTTAGTGGGCAAAAGAGGACTTCCCATCTTCAGGAATAAAAAAGCACCACCACCACTCTCTCTTATTAAGCAAAAAGAAAAGCTCTTGTTTTATTTAATTAATTAATTAATTTATTTATTATTATTTTTTTTGATGTGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAACGGCATCTTGGCTCACTGCAACCTCCACCAGGATCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAACTGGGATTATAGATGCCCAGCACCACACCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCACACTCCTGACCTTAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCCATTTTATTTTGCTTTCCTCCATTTTCCTGCAATGTGGGAGATTTAAAAGGCAGGAGGCCCACTGGAAAGTGGGGATGCCTTTAGCTTGGGGCTGGACTCCCTGATCCTACAATGAAGTAGGGATAGCATCAGTTTCTGAATTTGCCCAATTTTAGCTTCAACCTCTCCTACATTATTTTCCTTTTGAATGGGTATCTCCATTTCTTATAAAACAGGGGTGAAATGTATGTGTTCACCTTCTAAGAAGCAAGGAGGATGTCTTAGCCAAATAGTAAATAATTTTCAGAGTTTTAGAAAAGTTTTCCAAAATACAATGTTGTATCTCCTTGGGACGGGAGGATCACACCACTGAGGTGAGGCAAGTAGTTAAAAAAAAAAAAAATCCACAGCTCCACCTTCCAGACAAAATCTACTGGGCTAATGGGGACAAATAACTTCAATTTCGGACATTAACAATTTTAGATGCTTGTTTTCCTGTATTATGTTTCTCATAAATTTTAAATACTGGATAAGAACATGGTTATACTTTTCATTTCTCATAAACACAGGTGTGTAAACTGCTAGTTTTAGCACCTTTGAATTTTATTTGTCTAGAATGGTTTCAACTTTGCCAATATCTTTTCTTGCTTATTGAACAGATGCTTTGAAAAGAGAGATATAATTTAAAACTAGAAATTAAAATAGTGTGCAGCACAGAACAAAAGTACTAAAGAAGCAATATATACATGTTTACTATTTATTTAATGCAGGTACATATTTAACTTACAAAAACCAGCACCCCATTACTGTATGTTGATATATATATTAGCTTGATAGAACAAGAAAAAAAACGGAAGGGAAAACTAGTTTCAGGTGAAACAAAAAAGAAAACGGTGTAGAGGCTGAAATAGATACAGCATTGCAACATAATAAGCAATTTTATTTCTAAATGGCGCCTTTAAATATGTCAAATAAAATTAATTCTGTTTAATGAATAAAAATCCAGTAATCGAACATATTTTATAAGCATTTGGGTAGTTGTGATTATTTTATTAAGACTTTGATATTAAACTCGTGAGAACACAGGCTTTGATAGAGATGTTTTTGAGAAATGCAAACTTTTTATATTAATTATATATAAGAACGAATTTCTCAAGTATTTACAAAGGTAATTTCCAAGTACACAATATGAGGAAGTAACAAGAAGAACAAAAAATGAGAAAACGAGTTACAGTTTCAAACGTGGAGAATTCACATTAAGAGGAAAATAATGTAATAAACGTTTTAGACATATCCTTGTAAACATCACAGATCATTT
|
Task1_train_24202
|
This alteration occurs within gene HNF1B (HNF1 homeobox B) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Renal cysts and diabetes syndrome
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ATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAACAACAATCTCTTGAAGAGGCTGTTGTATTTGTAAAACGTCCCTTCCTCAGCATCTTGAGAAACTTTCTGGACCTCTGTCTTTTGAGAAGTTTCCAGTCTGCCTTTCCTGCCTCCTTCTCCTTTCTGAAGAAATTCTCATTGAATACAGAGAGGCAGCACAGACTGGAAATGCTGCATAAAGCTTAAATTGGGCAGGGCCCAAGCGTTGTTGGGTCTTTGGAGACAATGGCTCCTGAGAATTTTTTTAGGCTTTCCAGGAACTACAGAGAGTTGCTTCATGTCAGGAACACAAATTCTTAAAGAGCTAGTCACCAAGTATGGGGGGCCAACCCATTCTTGGAAAGGTCTCTCGCTCTAAGCAGCAAACAGCTCTCATGTTGCTTCTTCCAATCTATTCATGTAATGCTCCCAACAAAAGCACAAACACCACAATATGAAATGAACACCTAAAACCATTCCTTTCACCAGCCCAGGGACATTGAGACAATAAATACTGAAACAATCACTTCAGAGCAGTGTGTAACAGAAGACAAGAGTCATTTTAAAAAGCAACAGGGAAAAAACCCAACCCAGAAACCCAGATAGTGGTGGAAATTAACATCTTGATAAAGACAGAGAAGCCTAGATAAAGCCAGAGGATAGTGTGTGGGGAGAGTGAAAACCGATACAAATTTTCCAGGAAAAGGATTGGATCAAAGTAATGAAAGTGTAATGTCAAAGAATACTTTCCTAAAATACAGACAGTATGTCATTCCTACTCTTGTTATTCATAGGCAGTTCAAACTTCTCTAGACGTACTTCAAAACAAAAACCTTTTAGAATTATTGGGTGGGAGAAATCTTGGGACAGAAAAAAAACTTTGGGATGGGAATGGGGATGACAAGAATTGATGGGTCAGAGTTCCAAATGCAGATGCTTTTCCTGTGCCCTGCCTTAGCCAGAAATAGCTTCTTCATGAGCAGGGCCACCAGCTGAGGTCCCCACACTCTACCAGTGTTGGTAAATGTGGGTAAACACCTTAAATTGCCTCAGGATTCAATCCCTCCCACTATCCTCCAAGAACAGGGTGAAGTTCTGAATATATCTCTCTATACAAATGCATTCTATTGTTGATACTTTTTCCAGAGAGGAGGAAATTAACAGTAATAGTAATCAATATTATTGACTGCAACGAAATGTCTTCTTTGGAAATTGACTGATGGTCACGTATCAAGGGGAGATGCTGGGTTTTCTCTCAGGGAAGACATTTCACTCTGTCACCTACTTGGTTTCAAAGAGAAGGAGGTGGAAGGAGGGGCCAAAAAGTTTAAGGTATGCTGCATACACTGACAGGCTCCTCAGAGCAACTGGCTGGGTAGCAAGGGGGCTGTGACTGAAGAACATGACAGAAGCCAATCCATTGTACAGCAACCACCAAGGCCAAATCTACTTGCCACCTTCCTCATATCTGCCAAGTGCTCACAAGGCCTTGTCGATGAAAGGGAAACTGAGGCAGCCAATGGGGTGAGAGGGCAAAGGTCACTTCAGGTTGAGGCAGAGGCAGGATGAAAACACTTACGTCGGAGGATCTCTCGTTGCTTTCTGACGTACCAGGTGTACAGAGCGGCACGCTTCTGGGTCTTCATAGGGGTGCCCTTGTTGAGATGCTGGGAGAGGTGCGACTGGTTCAGGCCGGTGACATCGACCACCTCCCTCTGGGGGATGTTGTGTTGCTGCATGTAACCCTTGATCATTTTAGCAGCCCTCCAAGGGTCCTCACTAGACAGACAAGCAGATGGTTAGGGTACTAGTGGGAGACATCTGGGGAGAAACATTCTTTTTCTAGGGGGTGCTACCTATGGTCTATGCAAAATTCTGAATTTTCCCCCCATCTAAGCTACAACTTTGGGGTAGACATGAGGCCAAAATGGAAGCTAAACAGAGGAGAAGGTGACTGCCCCTGTACGGTACACCTCATCCCTTTCTTCTGAGGTTAGTGGGCAAAAGAGGACTTCCCATCTTCAGGAATAAAAAAGCACCACCACCACTCTCTCTTATTAAGCAAAAAGAAAAGCTCTTGTTTTATTTAATTAATTAATTAATTTATTTATTATTATTTTTTTTGATGTGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAACGGCATCTTGGCTCACTGCAACCTCCACCAGGATCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAACTGGGATTATAGATGCCCAGCACCACACCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCACACTCCTGACCTTAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCCATTTTATTTTGCTTTCCTCCATTTTCCTGCAATGTGGGAGATTTAAAAGGCAGGAGGCCCACTGGAAAGTGGGGATGCCTTTAGCTTGGGGCTGGACTCCCTGATCCTACAATGAAGTAGGGATAGCATCAGTTTCTGAATTTGCCCAATTTTAGCTTCAACCTCTCCTACATTATTTTCCTTTTGAATGGGTATCTCCATTTCTTATAAAACAGGGGTGAAATGTATGTGTTCACCTTCTAAGAAGCAAGGAGGATGTCTTAGCCAAATAGTAAATAATTTTCAGAGTTTTAGAAAAGTTTTCCAAAATACAATGTTGTATCTCCTTGGGACGGGAGGATCACACCACTGAGGTGAGGCAAGTAGTTAAAAAAAAAAAAAATCCACAGCTCCACCTTCCAGACAAAATCTACTGGGCTAATGGGGACAAATAACTTCAATTTCGGACATTAACAATTTTAGATGCTTGTTTTCCTGTATTATGTTTCTCATAAATTTTAAATACTGGATAAGAACATGGTTATACTTTTCATTTCTCATAAACACAGGTGTGTAAACTGCTAGTTTTAGCACCTTTGAATTTTATTTGTCTAGAATGGTTTCAACTTTGCCAATATCTTTTCTTGCTTATTGAACAGATGCTTTGAAAAGAGAGATATAATTTAAAACTAGAAATTAAAATAGTGTGCAGCACAGAACAAAAGTACTAAAGAAGCAATATATACATGTTTACTATTTATTTAATGCAGGTACATATTTAACTTACAAAAACCAGCACCCCATTACTGTATGTTGATATATATATTAGCTTGATAGAACAAGAAAAAAAACGGAAGGGAAAACTAGTTTCAGGTGAAACAAAAAAGAAAACGGTGTAGAGGCTGAAATAGATACAGCATTGCAACATAATAAGCAATTTTATTTCTAAATGGCGCCTTTAAATATGTCAAATAAAATTAATTCTGTTTAATGAATAAAAATCCAGTAATCGAACATATTTTATAAGCATTTGGGTAGTTGTGATTATTTTATTAAGACTTTGATATTAAACTCGTGAGAACACAGGCTTTGATAGAGATGTTTTTGAGAAATGCAAACTTTTTATATTAATTATATATAAGAACGAATTTCTCAAGTATTTACAAAGGTAATTTCCAAGTACACAATATGAGGAAGTAACAAGAAGAACAAAAAATGAGAAAACGAGTTACAGTTTCAAACGTGGAGAATTCACATTAAGAGGAAAATAATGTAATAAACGTTTTAGACATATCCTTGTAAACATCACAGATCATTTAAAAGTTTA
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ATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAACAACAATCTCTTGAAGAGGCTGTTGTATTTGTAAAACGTCCCTTCCTCAGCATCTTGAGAAACTTTCTGGACCTCTGTCTTTTGAGAAGTTTCCAGTCTGCCTTTCCTGCCTCCTTCTCCTTTCTGAAGAAATTCTCATTGAATACAGAGAGGCAGCACAGACTGGAAATGCTGCATAAAGCTTAAATTGGGCAGGGCCCAAGCGTTGTTGGGTCTTTGGAGACAATGGCTCCTGAGAATTTTTTTAGGCTTTCCAGGAACTACAGAGAGTTGCTTCATGTCAGGAACACAAATTCTTAAAGAGCTAGTCACCAAGTATGGGGGGCCAACCCATTCTTGGAAAGGTCTCTCGCTCTAAGCAGCAAACAGCTCTCATGTTGCTTCTTCCAATCTATTCATGTAATGCTCCCAACAAAAGCACAAACACCACAATATGAAATGAACACCTAAAACCATTCCTTTCACCAGCCCAGGGACATTGAGACAATAAATACTGAAACAATCACTTCAGAGCAGTGTGTAACAGAAGACAAGAGTCATTTTAAAAAGCAACAGGGAAAAAACCCAACCCAGAAACCCAGATAGTGGTGGAAATTAACATCTTGATAAAGACAGAGAAGCCTAGATAAAGCCAGAGGATAGTGTGTGGGGAGAGTGAAAACCGATACAAATTTTCCAGGAAAAGGATTGGATCAAAGTAATGAAAGTGTAATGTCAAAGAATACTTTCCTAAAATACAGACAGTATGTCATTCCTACTCTTGTTATTCATAGGCAGTTCAAACTTCTCTAGACGTACTTCAAAACAAAAACCTTTTAGAATTATTGGGTGGGAGAAATCTTGGGACAGAAAAAAAACTTTGGGATGGGAATGGGGATGACAAGAATTGATGGGTCAGAGTTCCAAATGCAGATGCTTTTCCTGTGCCCTGCCTTAGCCAGAAATAGCTTCTTCATGAGCAGGGCCACCAGCTGAGGTCCCCACACTCTACCAGTGTTGGTAAATGTGGGTAAACACCTTAAATTGCCTCAGGATTCAATCCCTCCCACTATCCTCCAAGAACAGGGTGAAGTTCTGAATATATCTCTCTATACAAATGCATTCTATTGTTGATACTTTTTCCAGAGAGGAGGAAATTAACAGTAATAGTAATCAATATTATTGACTGCAACGAAATGTCTTCTTTGGAAATTGACTGATGGTCACGTATCAAGGGGAGATGCTGGGTTTTCTCTCAGGGAAGACATTTCACTCTGTCACCTACTTGGTTTCAAAGAGAAGGAGGTGGAAGGAGGGGCCAAAAAGTTTAAGGTATGCTGCATACACTGACAGGCTCCTCAGAGCAACTGGCTGGGTAGCAAGGGGGCTGTGACTGAAGAACATGACAGAAGCCAATCCATTGTACAGCAACCACCAAGGCCAAATCTACTTGCCACCTTCCTCATATCTGCCAAGTGCTCACAAGGCCTTGTCGATGAAAGGGAAACTGAGGCAGCCAATGGGGTGAGAGGGCAAAGGTCACTTCAGGTTGAGGCAGAGGCAGGATGAAAACACTTACGTCGGAGGATCTCTCGTTGCTTTCTGACGTACCAGGTGTACAGAGCGGCACGCTTCTGGGTCTTCATAGGGGTGCCCTTGTTGAGATTCTGGGAGAGGTGCGACTGGTTCAGGCCGGTGACATCGACCACCTCCCTCTGGGGGATGTTGTGTTGCTGCATGTAACCCTTGATCATTTTAGCAGCCCTCCAAGGGTCCTCACTAGACAGACAAGCAGATGGTTAGGGTACTAGTGGGAGACATCTGGGGAGAAACATTCTTTTTCTAGGGGGTGCTACCTATGGTCTATGCAAAATTCTGAATTTTCCCCCCATCTAAGCTACAACTTTGGGGTAGACATGAGGCCAAAATGGAAGCTAAACAGAGGAGAAGGTGACTGCCCCTGTACGGTACACCTCATCCCTTTCTTCTGAGGTTAGTGGGCAAAAGAGGACTTCCCATCTTCAGGAATAAAAAAGCACCACCACCACTCTCTCTTATTAAGCAAAAAGAAAAGCTCTTGTTTTATTTAATTAATTAATTAATTTATTTATTATTATTTTTTTTGATGTGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAACGGCATCTTGGCTCACTGCAACCTCCACCAGGATCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAACTGGGATTATAGATGCCCAGCACCACACCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCACACTCCTGACCTTAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCCATTTTATTTTGCTTTCCTCCATTTTCCTGCAATGTGGGAGATTTAAAAGGCAGGAGGCCCACTGGAAAGTGGGGATGCCTTTAGCTTGGGGCTGGACTCCCTGATCCTACAATGAAGTAGGGATAGCATCAGTTTCTGAATTTGCCCAATTTTAGCTTCAACCTCTCCTACATTATTTTCCTTTTGAATGGGTATCTCCATTTCTTATAAAACAGGGGTGAAATGTATGTGTTCACCTTCTAAGAAGCAAGGAGGATGTCTTAGCCAAATAGTAAATAATTTTCAGAGTTTTAGAAAAGTTTTCCAAAATACAATGTTGTATCTCCTTGGGACGGGAGGATCACACCACTGAGGTGAGGCAAGTAGTTAAAAAAAAAAAAAATCCACAGCTCCACCTTCCAGACAAAATCTACTGGGCTAATGGGGACAAATAACTTCAATTTCGGACATTAACAATTTTAGATGCTTGTTTTCCTGTATTATGTTTCTCATAAATTTTAAATACTGGATAAGAACATGGTTATACTTTTCATTTCTCATAAACACAGGTGTGTAAACTGCTAGTTTTAGCACCTTTGAATTTTATTTGTCTAGAATGGTTTCAACTTTGCCAATATCTTTTCTTGCTTATTGAACAGATGCTTTGAAAAGAGAGATATAATTTAAAACTAGAAATTAAAATAGTGTGCAGCACAGAACAAAAGTACTAAAGAAGCAATATATACATGTTTACTATTTATTTAATGCAGGTACATATTTAACTTACAAAAACCAGCACCCCATTACTGTATGTTGATATATATATTAGCTTGATAGAACAAGAAAAAAAACGGAAGGGAAAACTAGTTTCAGGTGAAACAAAAAAGAAAACGGTGTAGAGGCTGAAATAGATACAGCATTGCAACATAATAAGCAATTTTATTTCTAAATGGCGCCTTTAAATATGTCAAATAAAATTAATTCTGTTTAATGAATAAAAATCCAGTAATCGAACATATTTTATAAGCATTTGGGTAGTTGTGATTATTTTATTAAGACTTTGATATTAAACTCGTGAGAACACAGGCTTTGATAGAGATGTTTTTGAGAAATGCAAACTTTTTATATTAATTATATATAAGAACGAATTTCTCAAGTATTTACAAAGGTAATTTCCAAGTACACAATATGAGGAAGTAACAAGAAGAACAAAAAATGAGAAAACGAGTTACAGTTTCAAACGTGGAGAATTCACATTAAGAGGAAAATAATGTAATAAACGTTTTAGACATATCCTTGTAAACATCACAGATCATTTAAAAGTTTA
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Task1_train_24203
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A variant on Chromosome 17 in gene HNF1B (HNF1 homeobox B) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Renal cysts and diabetes syndrome
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AAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAACAACAATCTCTTGAAGAGGCTGTTGTATTTGTAAAACGTCCCTTCCTCAGCATCTTGAGAAACTTTCTGGACCTCTGTCTTTTGAGAAGTTTCCAGTCTGCCTTTCCTGCCTCCTTCTCCTTTCTGAAGAAATTCTCATTGAATACAGAGAGGCAGCACAGACTGGAAATGCTGCATAAAGCTTAAATTGGGCAGGGCCCAAGCGTTGTTGGGTCTTTGGAGACAATGGCTCCTGAGAATTTTTTTAGGCTTTCCAGGAACTACAGAGAGTTGCTTCATGTCAGGAACACAAATTCTTAAAGAGCTAGTCACCAAGTATGGGGGGCCAACCCATTCTTGGAAAGGTCTCTCGCTCTAAGCAGCAAACAGCTCTCATGTTGCTTCTTCCAATCTATTCATGTAATGCTCCCAACAAAAGCACAAACACCACAATATGAAATGAACACCTAAAACCATTCCTTTCACCAGCCCAGGGACATTGAGACAATAAATACTGAAACAATCACTTCAGAGCAGTGTGTAACAGAAGACAAGAGTCATTTTAAAAAGCAACAGGGAAAAAACCCAACCCAGAAACCCAGATAGTGGTGGAAATTAACATCTTGATAAAGACAGAGAAGCCTAGATAAAGCCAGAGGATAGTGTGTGGGGAGAGTGAAAACCGATACAAATTTTCCAGGAAAAGGATTGGATCAAAGTAATGAAAGTGTAATGTCAAAGAATACTTTCCTAAAATACAGACAGTATGTCATTCCTACTCTTGTTATTCATAGGCAGTTCAAACTTCTCTAGACGTACTTCAAAACAAAAACCTTTTAGAATTATTGGGTGGGAGAAATCTTGGGACAGAAAAAAAACTTTGGGATGGGAATGGGGATGACAAGAATTGATGGGTCAGAGTTCCAAATGCAGATGCTTTTCCTGTGCCCTGCCTTAGCCAGAAATAGCTTCTTCATGAGCAGGGCCACCAGCTGAGGTCCCCACACTCTACCAGTGTTGGTAAATGTGGGTAAACACCTTAAATTGCCTCAGGATTCAATCCCTCCCACTATCCTCCAAGAACAGGGTGAAGTTCTGAATATATCTCTCTATACAAATGCATTCTATTGTTGATACTTTTTCCAGAGAGGAGGAAATTAACAGTAATAGTAATCAATATTATTGACTGCAACGAAATGTCTTCTTTGGAAATTGACTGATGGTCACGTATCAAGGGGAGATGCTGGGTTTTCTCTCAGGGAAGACATTTCACTCTGTCACCTACTTGGTTTCAAAGAGAAGGAGGTGGAAGGAGGGGCCAAAAAGTTTAAGGTATGCTGCATACACTGACAGGCTCCTCAGAGCAACTGGCTGGGTAGCAAGGGGGCTGTGACTGAAGAACATGACAGAAGCCAATCCATTGTACAGCAACCACCAAGGCCAAATCTACTTGCCACCTTCCTCATATCTGCCAAGTGCTCACAAGGCCTTGTCGATGAAAGGGAAACTGAGGCAGCCAATGGGGTGAGAGGGCAAAGGTCACTTCAGGTTGAGGCAGAGGCAGGATGAAAACACTTACGTCGGAGGATCTCTCGTTGCTTTCTGACGTACCAGGTGTACAGAGCGGCACGCTTCTGGGTCTTCATAGGGGTGCCCTTGTTGAGATGCTGGGAGAGGTGCGACTGGTTCAGGCCGGTGACATCGACCACCTCCCTCTGGGGGATGTTGTGTTGCTGCATGTAACCCTTGATCATTTTAGCAGCCCTCCAAGGGTCCTCACTAGACAGACAAGCAGATGGTTAGGGTACTAGTGGGAGACATCTGGGGAGAAACATTCTTTTTCTAGGGGGTGCTACCTATGGTCTATGCAAAATTCTGAATTTTCCCCCCATCTAAGCTACAACTTTGGGGTAGACATGAGGCCAAAATGGAAGCTAAACAGAGGAGAAGGTGACTGCCCCTGTACGGTACACCTCATCCCTTTCTTCTGAGGTTAGTGGGCAAAAGAGGACTTCCCATCTTCAGGAATAAAAAAGCACCACCACCACTCTCTCTTATTAAGCAAAAAGAAAAGCTCTTGTTTTATTTAATTAATTAATTAATTTATTTATTATTATTTTTTTTGATGTGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAACGGCATCTTGGCTCACTGCAACCTCCACCAGGATCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAACTGGGATTATAGATGCCCAGCACCACACCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCACACTCCTGACCTTAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCCATTTTATTTTGCTTTCCTCCATTTTCCTGCAATGTGGGAGATTTAAAAGGCAGGAGGCCCACTGGAAAGTGGGGATGCCTTTAGCTTGGGGCTGGACTCCCTGATCCTACAATGAAGTAGGGATAGCATCAGTTTCTGAATTTGCCCAATTTTAGCTTCAACCTCTCCTACATTATTTTCCTTTTGAATGGGTATCTCCATTTCTTATAAAACAGGGGTGAAATGTATGTGTTCACCTTCTAAGAAGCAAGGAGGATGTCTTAGCCAAATAGTAAATAATTTTCAGAGTTTTAGAAAAGTTTTCCAAAATACAATGTTGTATCTCCTTGGGACGGGAGGATCACACCACTGAGGTGAGGCAAGTAGTTAAAAAAAAAAAAAATCCACAGCTCCACCTTCCAGACAAAATCTACTGGGCTAATGGGGACAAATAACTTCAATTTCGGACATTAACAATTTTAGATGCTTGTTTTCCTGTATTATGTTTCTCATAAATTTTAAATACTGGATAAGAACATGGTTATACTTTTCATTTCTCATAAACACAGGTGTGTAAACTGCTAGTTTTAGCACCTTTGAATTTTATTTGTCTAGAATGGTTTCAACTTTGCCAATATCTTTTCTTGCTTATTGAACAGATGCTTTGAAAAGAGAGATATAATTTAAAACTAGAAATTAAAATAGTGTGCAGCACAGAACAAAAGTACTAAAGAAGCAATATATACATGTTTACTATTTATTTAATGCAGGTACATATTTAACTTACAAAAACCAGCACCCCATTACTGTATGTTGATATATATATTAGCTTGATAGAACAAGAAAAAAAACGGAAGGGAAAACTAGTTTCAGGTGAAACAAAAAAGAAAACGGTGTAGAGGCTGAAATAGATACAGCATTGCAACATAATAAGCAATTTTATTTCTAAATGGCGCCTTTAAATATGTCAAATAAAATTAATTCTGTTTAATGAATAAAAATCCAGTAATCGAACATATTTTATAAGCATTTGGGTAGTTGTGATTATTTTATTAAGACTTTGATATTAAACTCGTGAGAACACAGGCTTTGATAGAGATGTTTTTGAGAAATGCAAACTTTTTATATTAATTATATATAAGAACGAATTTCTCAAGTATTTACAAAGGTAATTTCCAAGTACACAATATGAGGAAGTAACAAGAAGAACAAAAAATGAGAAAACGAGTTACAGTTTCAAACGTGGAGAATTCACATTAAGAGGAAAATAATGTAATAAACGTTTTAGACATATCCTTGTAAACATCACAGATCATTTAAAAGTTTATTTCTGGTCAATAT
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AAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAACAACAATCTCTTGAAGAGGCTGTTGTATTTGTAAAACGTCCCTTCCTCAGCATCTTGAGAAACTTTCTGGACCTCTGTCTTTTGAGAAGTTTCCAGTCTGCCTTTCCTGCCTCCTTCTCCTTTCTGAAGAAATTCTCATTGAATACAGAGAGGCAGCACAGACTGGAAATGCTGCATAAAGCTTAAATTGGGCAGGGCCCAAGCGTTGTTGGGTCTTTGGAGACAATGGCTCCTGAGAATTTTTTTAGGCTTTCCAGGAACTACAGAGAGTTGCTTCATGTCAGGAACACAAATTCTTAAAGAGCTAGTCACCAAGTATGGGGGGCCAACCCATTCTTGGAAAGGTCTCTCGCTCTAAGCAGCAAACAGCTCTCATGTTGCTTCTTCCAATCTATTCATGTAATGCTCCCAACAAAAGCACAAACACCACAATATGAAATGAACACCTAAAACCATTCCTTTCACCAGCCCAGGGACATTGAGACAATAAATACTGAAACAATCACTTCAGAGCAGTGTGTAACAGAAGACAAGAGTCATTTTAAAAAGCAACAGGGAAAAAACCCAACCCAGAAACCCAGATAGTGGTGGAAATTAACATCTTGATAAAGACAGAGAAGCCTAGATAAAGCCAGAGGATAGTGTGTGGGGAGAGTGAAAACCGATACAAATTTTCCAGGAAAAGGATTGGATCAAAGTAATGAAAGTGTAATGTCAAAGAATACTTTCCTAAAATACAGACAGTATGTCATTCCTACTCTTGTTATTCATAGGCAGTTCAAACTTCTCTAGACGTACTTCAAAACAAAAACCTTTTAGAATTATTGGGTGGGAGAAATCTTGGGACAGAAAAAAAACTTTGGGATGGGAATGGGGATGACAAGAATTGATGGGTCAGAGTTCCAAATGCAGATGCTTTTCCTGTGCCCTGCCTTAGCCAGAAATAGCTTCTTCATGAGCAGGGCCACCAGCTGAGGTCCCCACACTCTACCAGTGTTGGTAAATGTGGGTAAACACCTTAAATTGCCTCAGGATTCAATCCCTCCCACTATCCTCCAAGAACAGGGTGAAGTTCTGAATATATCTCTCTATACAAATGCATTCTATTGTTGATACTTTTTCCAGAGAGGAGGAAATTAACAGTAATAGTAATCAATATTATTGACTGCAACGAAATGTCTTCTTTGGAAATTGACTGATGGTCACGTATCAAGGGGAGATGCTGGGTTTTCTCTCAGGGAAGACATTTCACTCTGTCACCTACTTGGTTTCAAAGAGAAGGAGGTGGAAGGAGGGGCCAAAAAGTTTAAGGTATGCTGCATACACTGACAGGCTCCTCAGAGCAACTGGCTGGGTAGCAAGGGGGCTGTGACTGAAGAACATGACAGAAGCCAATCCATTGTACAGCAACCACCAAGGCCAAATCTACTTGCCACCTTCCTCATATCTGCCAAGTGCTCACAAGGCCTTGTCGATGAAAGGGAAACTGAGGCAGCCAATGGGGTGAGAGGGCAAAGGTCACTTCAGGTTGAGGCAGAGGCAGGATGAAAACACTTACGTCGGAGGATCTCTCGTTGCTTTCTGACGTACCAGGTGTACAGAGCGGCACGCTTCTGGGTCTTCATAGGGGTGCCCTTGTTGAGATGCTGGGAGAGGTGCCACTGGTTCAGGCCGGTGACATCGACCACCTCCCTCTGGGGGATGTTGTGTTGCTGCATGTAACCCTTGATCATTTTAGCAGCCCTCCAAGGGTCCTCACTAGACAGACAAGCAGATGGTTAGGGTACTAGTGGGAGACATCTGGGGAGAAACATTCTTTTTCTAGGGGGTGCTACCTATGGTCTATGCAAAATTCTGAATTTTCCCCCCATCTAAGCTACAACTTTGGGGTAGACATGAGGCCAAAATGGAAGCTAAACAGAGGAGAAGGTGACTGCCCCTGTACGGTACACCTCATCCCTTTCTTCTGAGGTTAGTGGGCAAAAGAGGACTTCCCATCTTCAGGAATAAAAAAGCACCACCACCACTCTCTCTTATTAAGCAAAAAGAAAAGCTCTTGTTTTATTTAATTAATTAATTAATTTATTTATTATTATTTTTTTTGATGTGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAACGGCATCTTGGCTCACTGCAACCTCCACCAGGATCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAACTGGGATTATAGATGCCCAGCACCACACCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCACACTCCTGACCTTAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCCATTTTATTTTGCTTTCCTCCATTTTCCTGCAATGTGGGAGATTTAAAAGGCAGGAGGCCCACTGGAAAGTGGGGATGCCTTTAGCTTGGGGCTGGACTCCCTGATCCTACAATGAAGTAGGGATAGCATCAGTTTCTGAATTTGCCCAATTTTAGCTTCAACCTCTCCTACATTATTTTCCTTTTGAATGGGTATCTCCATTTCTTATAAAACAGGGGTGAAATGTATGTGTTCACCTTCTAAGAAGCAAGGAGGATGTCTTAGCCAAATAGTAAATAATTTTCAGAGTTTTAGAAAAGTTTTCCAAAATACAATGTTGTATCTCCTTGGGACGGGAGGATCACACCACTGAGGTGAGGCAAGTAGTTAAAAAAAAAAAAAATCCACAGCTCCACCTTCCAGACAAAATCTACTGGGCTAATGGGGACAAATAACTTCAATTTCGGACATTAACAATTTTAGATGCTTGTTTTCCTGTATTATGTTTCTCATAAATTTTAAATACTGGATAAGAACATGGTTATACTTTTCATTTCTCATAAACACAGGTGTGTAAACTGCTAGTTTTAGCACCTTTGAATTTTATTTGTCTAGAATGGTTTCAACTTTGCCAATATCTTTTCTTGCTTATTGAACAGATGCTTTGAAAAGAGAGATATAATTTAAAACTAGAAATTAAAATAGTGTGCAGCACAGAACAAAAGTACTAAAGAAGCAATATATACATGTTTACTATTTATTTAATGCAGGTACATATTTAACTTACAAAAACCAGCACCCCATTACTGTATGTTGATATATATATTAGCTTGATAGAACAAGAAAAAAAACGGAAGGGAAAACTAGTTTCAGGTGAAACAAAAAAGAAAACGGTGTAGAGGCTGAAATAGATACAGCATTGCAACATAATAAGCAATTTTATTTCTAAATGGCGCCTTTAAATATGTCAAATAAAATTAATTCTGTTTAATGAATAAAAATCCAGTAATCGAACATATTTTATAAGCATTTGGGTAGTTGTGATTATTTTATTAAGACTTTGATATTAAACTCGTGAGAACACAGGCTTTGATAGAGATGTTTTTGAGAAATGCAAACTTTTTATATTAATTATATATAAGAACGAATTTCTCAAGTATTTACAAAGGTAATTTCCAAGTACACAATATGAGGAAGTAACAAGAAGAACAAAAAATGAGAAAACGAGTTACAGTTTCAAACGTGGAGAATTCACATTAAGAGGAAAATAATGTAATAAACGTTTTAGACATATCCTTGTAAACATCACAGATCATTTAAAAGTTTATTTCTGGTCAATAT
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Task1_train_24204
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Given this variant in gene HNF1B (HNF1 homeobox B) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Renal cysts and diabetes syndrome
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TTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAACAACAATCTCTTGAAGAGGCTGTTGTATTTGTAAAACGTCCCTTCCTCAGCATCTTGAGAAACTTTCTGGACCTCTGTCTTTTGAGAAGTTTCCAGTCTGCCTTTCCTGCCTCCTTCTCCTTTCTGAAGAAATTCTCATTGAATACAGAGAGGCAGCACAGACTGGAAATGCTGCATAAAGCTTAAATTGGGCAGGGCCCAAGCGTTGTTGGGTCTTTGGAGACAATGGCTCCTGAGAATTTTTTTAGGCTTTCCAGGAACTACAGAGAGTTGCTTCATGTCAGGAACACAAATTCTTAAAGAGCTAGTCACCAAGTATGGGGGGCCAACCCATTCTTGGAAAGGTCTCTCGCTCTAAGCAGCAAACAGCTCTCATGTTGCTTCTTCCAATCTATTCATGTAATGCTCCCAACAAAAGCACAAACACCACAATATGAAATGAACACCTAAAACCATTCCTTTCACCAGCCCAGGGACATTGAGACAATAAATACTGAAACAATCACTTCAGAGCAGTGTGTAACAGAAGACAAGAGTCATTTTAAAAAGCAACAGGGAAAAAACCCAACCCAGAAACCCAGATAGTGGTGGAAATTAACATCTTGATAAAGACAGAGAAGCCTAGATAAAGCCAGAGGATAGTGTGTGGGGAGAGTGAAAACCGATACAAATTTTCCAGGAAAAGGATTGGATCAAAGTAATGAAAGTGTAATGTCAAAGAATACTTTCCTAAAATACAGACAGTATGTCATTCCTACTCTTGTTATTCATAGGCAGTTCAAACTTCTCTAGACGTACTTCAAAACAAAAACCTTTTAGAATTATTGGGTGGGAGAAATCTTGGGACAGAAAAAAAACTTTGGGATGGGAATGGGGATGACAAGAATTGATGGGTCAGAGTTCCAAATGCAGATGCTTTTCCTGTGCCCTGCCTTAGCCAGAAATAGCTTCTTCATGAGCAGGGCCACCAGCTGAGGTCCCCACACTCTACCAGTGTTGGTAAATGTGGGTAAACACCTTAAATTGCCTCAGGATTCAATCCCTCCCACTATCCTCCAAGAACAGGGTGAAGTTCTGAATATATCTCTCTATACAAATGCATTCTATTGTTGATACTTTTTCCAGAGAGGAGGAAATTAACAGTAATAGTAATCAATATTATTGACTGCAACGAAATGTCTTCTTTGGAAATTGACTGATGGTCACGTATCAAGGGGAGATGCTGGGTTTTCTCTCAGGGAAGACATTTCACTCTGTCACCTACTTGGTTTCAAAGAGAAGGAGGTGGAAGGAGGGGCCAAAAAGTTTAAGGTATGCTGCATACACTGACAGGCTCCTCAGAGCAACTGGCTGGGTAGCAAGGGGGCTGTGACTGAAGAACATGACAGAAGCCAATCCATTGTACAGCAACCACCAAGGCCAAATCTACTTGCCACCTTCCTCATATCTGCCAAGTGCTCACAAGGCCTTGTCGATGAAAGGGAAACTGAGGCAGCCAATGGGGTGAGAGGGCAAAGGTCACTTCAGGTTGAGGCAGAGGCAGGATGAAAACACTTACGTCGGAGGATCTCTCGTTGCTTTCTGACGTACCAGGTGTACAGAGCGGCACGCTTCTGGGTCTTCATAGGGGTGCCCTTGTTGAGATGCTGGGAGAGGTGCGACTGGTTCAGGCCGGTGACATCGACCACCTCCCTCTGGGGGATGTTGTGTTGCTGCATGTAACCCTTGATCATTTTAGCAGCCCTCCAAGGGTCCTCACTAGACAGACAAGCAGATGGTTAGGGTACTAGTGGGAGACATCTGGGGAGAAACATTCTTTTTCTAGGGGGTGCTACCTATGGTCTATGCAAAATTCTGAATTTTCCCCCCATCTAAGCTACAACTTTGGGGTAGACATGAGGCCAAAATGGAAGCTAAACAGAGGAGAAGGTGACTGCCCCTGTACGGTACACCTCATCCCTTTCTTCTGAGGTTAGTGGGCAAAAGAGGACTTCCCATCTTCAGGAATAAAAAAGCACCACCACCACTCTCTCTTATTAAGCAAAAAGAAAAGCTCTTGTTTTATTTAATTAATTAATTAATTTATTTATTATTATTTTTTTTGATGTGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAACGGCATCTTGGCTCACTGCAACCTCCACCAGGATCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAACTGGGATTATAGATGCCCAGCACCACACCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCACACTCCTGACCTTAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCCATTTTATTTTGCTTTCCTCCATTTTCCTGCAATGTGGGAGATTTAAAAGGCAGGAGGCCCACTGGAAAGTGGGGATGCCTTTAGCTTGGGGCTGGACTCCCTGATCCTACAATGAAGTAGGGATAGCATCAGTTTCTGAATTTGCCCAATTTTAGCTTCAACCTCTCCTACATTATTTTCCTTTTGAATGGGTATCTCCATTTCTTATAAAACAGGGGTGAAATGTATGTGTTCACCTTCTAAGAAGCAAGGAGGATGTCTTAGCCAAATAGTAAATAATTTTCAGAGTTTTAGAAAAGTTTTCCAAAATACAATGTTGTATCTCCTTGGGACGGGAGGATCACACCACTGAGGTGAGGCAAGTAGTTAAAAAAAAAAAAAATCCACAGCTCCACCTTCCAGACAAAATCTACTGGGCTAATGGGGACAAATAACTTCAATTTCGGACATTAACAATTTTAGATGCTTGTTTTCCTGTATTATGTTTCTCATAAATTTTAAATACTGGATAAGAACATGGTTATACTTTTCATTTCTCATAAACACAGGTGTGTAAACTGCTAGTTTTAGCACCTTTGAATTTTATTTGTCTAGAATGGTTTCAACTTTGCCAATATCTTTTCTTGCTTATTGAACAGATGCTTTGAAAAGAGAGATATAATTTAAAACTAGAAATTAAAATAGTGTGCAGCACAGAACAAAAGTACTAAAGAAGCAATATATACATGTTTACTATTTATTTAATGCAGGTACATATTTAACTTACAAAAACCAGCACCCCATTACTGTATGTTGATATATATATTAGCTTGATAGAACAAGAAAAAAAACGGAAGGGAAAACTAGTTTCAGGTGAAACAAAAAAGAAAACGGTGTAGAGGCTGAAATAGATACAGCATTGCAACATAATAAGCAATTTTATTTCTAAATGGCGCCTTTAAATATGTCAAATAAAATTAATTCTGTTTAATGAATAAAAATCCAGTAATCGAACATATTTTATAAGCATTTGGGTAGTTGTGATTATTTTATTAAGACTTTGATATTAAACTCGTGAGAACACAGGCTTTGATAGAGATGTTTTTGAGAAATGCAAACTTTTTATATTAATTATATATAAGAACGAATTTCTCAAGTATTTACAAAGGTAATTTCCAAGTACACAATATGAGGAAGTAACAAGAAGAACAAAAAATGAGAAAACGAGTTACAGTTTCAAACGTGGAGAATTCACATTAAGAGGAAAATAATGTAATAAACGTTTTAGACATATCCTTGTAAACATCACAGATCATTTAAAAGTTTATTTCTGGTCAATATTTCCACCGATATTTTTAGGATGGAAAAATACTTTCAA
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TTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAACAACAATCTCTTGAAGAGGCTGTTGTATTTGTAAAACGTCCCTTCCTCAGCATCTTGAGAAACTTTCTGGACCTCTGTCTTTTGAGAAGTTTCCAGTCTGCCTTTCCTGCCTCCTTCTCCTTTCTGAAGAAATTCTCATTGAATACAGAGAGGCAGCACAGACTGGAAATGCTGCATAAAGCTTAAATTGGGCAGGGCCCAAGCGTTGTTGGGTCTTTGGAGACAATGGCTCCTGAGAATTTTTTTAGGCTTTCCAGGAACTACAGAGAGTTGCTTCATGTCAGGAACACAAATTCTTAAAGAGCTAGTCACCAAGTATGGGGGGCCAACCCATTCTTGGAAAGGTCTCTCGCTCTAAGCAGCAAACAGCTCTCATGTTGCTTCTTCCAATCTATTCATGTAATGCTCCCAACAAAAGCACAAACACCACAATATGAAATGAACACCTAAAACCATTCCTTTCACCAGCCCAGGGACATTGAGACAATAAATACTGAAACAATCACTTCAGAGCAGTGTGTAACAGAAGACAAGAGTCATTTTAAAAAGCAACAGGGAAAAAACCCAACCCAGAAACCCAGATAGTGGTGGAAATTAACATCTTGATAAAGACAGAGAAGCCTAGATAAAGCCAGAGGATAGTGTGTGGGGAGAGTGAAAACCGATACAAATTTTCCAGGAAAAGGATTGGATCAAAGTAATGAAAGTGTAATGTCAAAGAATACTTTCCTAAAATACAGACAGTATGTCATTCCTACTCTTGTTATTCATAGGCAGTTCAAACTTCTCTAGACGTACTTCAAAACAAAAACCTTTTAGAATTATTGGGTGGGAGAAATCTTGGGACAGAAAAAAAACTTTGGGATGGGAATGGGGATGACAAGAATTGATGGGTCAGAGTTCCAAATGCAGATGCTTTTCCTGTGCCCTGCCTTAGCCAGAAATAGCTTCTTCATGAGCAGGGCCACCAGCTGAGGTCCCCACACTCTACCAGTGTTGGTAAATGTGGGTAAACACCTTAAATTGCCTCAGGATTCAATCCCTCCCACTATCCTCCAAGAACAGGGTGAAGTTCTGAATATATCTCTCTATACAAATGCATTCTATTGTTGATACTTTTTCCAGAGAGGAGGAAATTAACAGTAATAGTAATCAATATTATTGACTGCAACGAAATGTCTTCTTTGGAAATTGACTGATGGTCACGTATCAAGGGGAGATGCTGGGTTTTCTCTCAGGGAAGACATTTCACTCTGTCACCTACTTGGTTTCAAAGAGAAGGAGGTGGAAGGAGGGGCCAAAAAGTTTAAGGTATGCTGCATACACTGACAGGCTCCTCAGAGCAACTGGCTGGGTAGCAAGGGGGCTGTGACTGAAGAACATGACAGAAGCCAATCCATTGTACAGCAACCACCAAGGCCAAATCTACTTGCCACCTTCCTCATATCTGCCAAGTGCTCACAAGGCCTTGTCGATGAAAGGGAAACTGAGGCAGCCAATGGGGTGAGAGGGCAAAGGTCACTTCAGGTTGAGGCAGAGGCAGGATGAAAACACTTACGTCGGAGGATCTCTCGTTGCTTTCTGACGTACCAGGTGTACAGAGCGGCACGCTTCTGGGTCTTCATAGGGGTGCCCTTGTTGAGATGCTGGGAGAGGTGCGACTGGTTCAGGCCGGTGACATCGACCACCTCCCTCTCGGGGATGTTGTGTTGCTGCATGTAACCCTTGATCATTTTAGCAGCCCTCCAAGGGTCCTCACTAGACAGACAAGCAGATGGTTAGGGTACTAGTGGGAGACATCTGGGGAGAAACATTCTTTTTCTAGGGGGTGCTACCTATGGTCTATGCAAAATTCTGAATTTTCCCCCCATCTAAGCTACAACTTTGGGGTAGACATGAGGCCAAAATGGAAGCTAAACAGAGGAGAAGGTGACTGCCCCTGTACGGTACACCTCATCCCTTTCTTCTGAGGTTAGTGGGCAAAAGAGGACTTCCCATCTTCAGGAATAAAAAAGCACCACCACCACTCTCTCTTATTAAGCAAAAAGAAAAGCTCTTGTTTTATTTAATTAATTAATTAATTTATTTATTATTATTTTTTTTGATGTGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAACGGCATCTTGGCTCACTGCAACCTCCACCAGGATCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAACTGGGATTATAGATGCCCAGCACCACACCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCACACTCCTGACCTTAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCCATTTTATTTTGCTTTCCTCCATTTTCCTGCAATGTGGGAGATTTAAAAGGCAGGAGGCCCACTGGAAAGTGGGGATGCCTTTAGCTTGGGGCTGGACTCCCTGATCCTACAATGAAGTAGGGATAGCATCAGTTTCTGAATTTGCCCAATTTTAGCTTCAACCTCTCCTACATTATTTTCCTTTTGAATGGGTATCTCCATTTCTTATAAAACAGGGGTGAAATGTATGTGTTCACCTTCTAAGAAGCAAGGAGGATGTCTTAGCCAAATAGTAAATAATTTTCAGAGTTTTAGAAAAGTTTTCCAAAATACAATGTTGTATCTCCTTGGGACGGGAGGATCACACCACTGAGGTGAGGCAAGTAGTTAAAAAAAAAAAAAATCCACAGCTCCACCTTCCAGACAAAATCTACTGGGCTAATGGGGACAAATAACTTCAATTTCGGACATTAACAATTTTAGATGCTTGTTTTCCTGTATTATGTTTCTCATAAATTTTAAATACTGGATAAGAACATGGTTATACTTTTCATTTCTCATAAACACAGGTGTGTAAACTGCTAGTTTTAGCACCTTTGAATTTTATTTGTCTAGAATGGTTTCAACTTTGCCAATATCTTTTCTTGCTTATTGAACAGATGCTTTGAAAAGAGAGATATAATTTAAAACTAGAAATTAAAATAGTGTGCAGCACAGAACAAAAGTACTAAAGAAGCAATATATACATGTTTACTATTTATTTAATGCAGGTACATATTTAACTTACAAAAACCAGCACCCCATTACTGTATGTTGATATATATATTAGCTTGATAGAACAAGAAAAAAAACGGAAGGGAAAACTAGTTTCAGGTGAAACAAAAAAGAAAACGGTGTAGAGGCTGAAATAGATACAGCATTGCAACATAATAAGCAATTTTATTTCTAAATGGCGCCTTTAAATATGTCAAATAAAATTAATTCTGTTTAATGAATAAAAATCCAGTAATCGAACATATTTTATAAGCATTTGGGTAGTTGTGATTATTTTATTAAGACTTTGATATTAAACTCGTGAGAACACAGGCTTTGATAGAGATGTTTTTGAGAAATGCAAACTTTTTATATTAATTATATATAAGAACGAATTTCTCAAGTATTTACAAAGGTAATTTCCAAGTACACAATATGAGGAAGTAACAAGAAGAACAAAAAATGAGAAAACGAGTTACAGTTTCAAACGTGGAGAATTCACATTAAGAGGAAAATAATGTAATAAACGTTTTAGACATATCCTTGTAAACATCACAGATCATTTAAAAGTTTATTTCTGGTCAATATTTCCACCGATATTTTTAGGATGGAAAAATACTTTCAA
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Task1_train_24205
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The gene HNF1B (HNF1 homeobox B) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Renal cysts and diabetes syndrome
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AAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAACAACAATCTCTTGAAGAGGCTGTTGTATTTGTAAAACGTCCCTTCCTCAGCATCTTGAGAAACTTTCTGGACCTCTGTCTTTTGAGAAGTTTCCAGTCTGCCTTTCCTGCCTCCTTCTCCTTTCTGAAGAAATTCTCATTGAATACAGAGAGGCAGCACAGACTGGAAATGCTGCATAAAGCTTAAATTGGGCAGGGCCCAAGCGTTGTTGGGTCTTTGGAGACAATGGCTCCTGAGAATTTTTTTAGGCTTTCCAGGAACTACAGAGAGTTGCTTCATGTCAGGAACACAAATTCTTAAAGAGCTAGTCACCAAGTATGGGGGGCCAACCCATTCTTGGAAAGGTCTCTCGCTCTAAGCAGCAAACAGCTCTCATGTTGCTTCTTCCAATCTATTCATGTAATGCTCCCAACAAAAGCACAAACACCACAATATGAAATGAACACCTAAAACCATTCCTTTCACCAGCCCAGGGACATTGAGACAATAAATACTGAAACAATCACTTCAGAGCAGTGTGTAACAGAAGACAAGAGTCATTTTAAAAAGCAACAGGGAAAAAACCCAACCCAGAAACCCAGATAGTGGTGGAAATTAACATCTTGATAAAGACAGAGAAGCCTAGATAAAGCCAGAGGATAGTGTGTGGGGAGAGTGAAAACCGATACAAATTTTCCAGGAAAAGGATTGGATCAAAGTAATGAAAGTGTAATGTCAAAGAATACTTTCCTAAAATACAGACAGTATGTCATTCCTACTCTTGTTATTCATAGGCAGTTCAAACTTCTCTAGACGTACTTCAAAACAAAAACCTTTTAGAATTATTGGGTGGGAGAAATCTTGGGACAGAAAAAAAACTTTGGGATGGGAATGGGGATGACAAGAATTGATGGGTCAGAGTTCCAAATGCAGATGCTTTTCCTGTGCCCTGCCTTAGCCAGAAATAGCTTCTTCATGAGCAGGGCCACCAGCTGAGGTCCCCACACTCTACCAGTGTTGGTAAATGTGGGTAAACACCTTAAATTGCCTCAGGATTCAATCCCTCCCACTATCCTCCAAGAACAGGGTGAAGTTCTGAATATATCTCTCTATACAAATGCATTCTATTGTTGATACTTTTTCCAGAGAGGAGGAAATTAACAGTAATAGTAATCAATATTATTGACTGCAACGAAATGTCTTCTTTGGAAATTGACTGATGGTCACGTATCAAGGGGAGATGCTGGGTTTTCTCTCAGGGAAGACATTTCACTCTGTCACCTACTTGGTTTCAAAGAGAAGGAGGTGGAAGGAGGGGCCAAAAAGTTTAAGGTATGCTGCATACACTGACAGGCTCCTCAGAGCAACTGGCTGGGTAGCAAGGGGGCTGTGACTGAAGAACATGACAGAAGCCAATCCATTGTACAGCAACCACCAAGGCCAAATCTACTTGCCACCTTCCTCATATCTGCCAAGTGCTCACAAGGCCTTGTCGATGAAAGGGAAACTGAGGCAGCCAATGGGGTGAGAGGGCAAAGGTCACTTCAGGTTGAGGCAGAGGCAGGATGAAAACACTTACGTCGGAGGATCTCTCGTTGCTTTCTGACGTACCAGGTGTACAGAGCGGCACGCTTCTGGGTCTTCATAGGGGTGCCCTTGTTGAGATGCTGGGAGAGGTGCGACTGGTTCAGGCCGGTGACATCGACCACCTCCCTCTGGGGGATGTTGTGTTGCTGCATGTAACCCTTGATCATTTTAGCAGCCCTCCAAGGGTCCTCACTAGACAGACAAGCAGATGGTTAGGGTACTAGTGGGAGACATCTGGGGAGAAACATTCTTTTTCTAGGGGGTGCTACCTATGGTCTATGCAAAATTCTGAATTTTCCCCCCATCTAAGCTACAACTTTGGGGTAGACATGAGGCCAAAATGGAAGCTAAACAGAGGAGAAGGTGACTGCCCCTGTACGGTACACCTCATCCCTTTCTTCTGAGGTTAGTGGGCAAAAGAGGACTTCCCATCTTCAGGAATAAAAAAGCACCACCACCACTCTCTCTTATTAAGCAAAAAGAAAAGCTCTTGTTTTATTTAATTAATTAATTAATTTATTTATTATTATTTTTTTTGATGTGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAACGGCATCTTGGCTCACTGCAACCTCCACCAGGATCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAACTGGGATTATAGATGCCCAGCACCACACCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCACACTCCTGACCTTAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCCATTTTATTTTGCTTTCCTCCATTTTCCTGCAATGTGGGAGATTTAAAAGGCAGGAGGCCCACTGGAAAGTGGGGATGCCTTTAGCTTGGGGCTGGACTCCCTGATCCTACAATGAAGTAGGGATAGCATCAGTTTCTGAATTTGCCCAATTTTAGCTTCAACCTCTCCTACATTATTTTCCTTTTGAATGGGTATCTCCATTTCTTATAAAACAGGGGTGAAATGTATGTGTTCACCTTCTAAGAAGCAAGGAGGATGTCTTAGCCAAATAGTAAATAATTTTCAGAGTTTTAGAAAAGTTTTCCAAAATACAATGTTGTATCTCCTTGGGACGGGAGGATCACACCACTGAGGTGAGGCAAGTAGTTAAAAAAAAAAAAAATCCACAGCTCCACCTTCCAGACAAAATCTACTGGGCTAATGGGGACAAATAACTTCAATTTCGGACATTAACAATTTTAGATGCTTGTTTTCCTGTATTATGTTTCTCATAAATTTTAAATACTGGATAAGAACATGGTTATACTTTTCATTTCTCATAAACACAGGTGTGTAAACTGCTAGTTTTAGCACCTTTGAATTTTATTTGTCTAGAATGGTTTCAACTTTGCCAATATCTTTTCTTGCTTATTGAACAGATGCTTTGAAAAGAGAGATATAATTTAAAACTAGAAATTAAAATAGTGTGCAGCACAGAACAAAAGTACTAAAGAAGCAATATATACATGTTTACTATTTATTTAATGCAGGTACATATTTAACTTACAAAAACCAGCACCCCATTACTGTATGTTGATATATATATTAGCTTGATAGAACAAGAAAAAAAACGGAAGGGAAAACTAGTTTCAGGTGAAACAAAAAAGAAAACGGTGTAGAGGCTGAAATAGATACAGCATTGCAACATAATAAGCAATTTTATTTCTAAATGGCGCCTTTAAATATGTCAAATAAAATTAATTCTGTTTAATGAATAAAAATCCAGTAATCGAACATATTTTATAAGCATTTGGGTAGTTGTGATTATTTTATTAAGACTTTGATATTAAACTCGTGAGAACACAGGCTTTGATAGAGATGTTTTTGAGAAATGCAAACTTTTTATATTAATTATATATAAGAACGAATTTCTCAAGTATTTACAAAGGTAATTTCCAAGTACACAATATGAGGAAGTAACAAGAAGAACAAAAAATGAGAAAACGAGTTACAGTTTCAAACGTGGAGAATTCACATTAAGAGGAAAATAATGTAATAAACGTTTTAGACATATCCTTGTAAACATCACAGATCATTTAAAAGTTTATTTCTGGTCAATATTTCCACCGATATTTTTAGGATGGAAAAATACTTTCAACGGCTACG
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AAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAACAACAATCTCTTGAAGAGGCTGTTGTATTTGTAAAACGTCCCTTCCTCAGCATCTTGAGAAACTTTCTGGACCTCTGTCTTTTGAGAAGTTTCCAGTCTGCCTTTCCTGCCTCCTTCTCCTTTCTGAAGAAATTCTCATTGAATACAGAGAGGCAGCACAGACTGGAAATGCTGCATAAAGCTTAAATTGGGCAGGGCCCAAGCGTTGTTGGGTCTTTGGAGACAATGGCTCCTGAGAATTTTTTTAGGCTTTCCAGGAACTACAGAGAGTTGCTTCATGTCAGGAACACAAATTCTTAAAGAGCTAGTCACCAAGTATGGGGGGCCAACCCATTCTTGGAAAGGTCTCTCGCTCTAAGCAGCAAACAGCTCTCATGTTGCTTCTTCCAATCTATTCATGTAATGCTCCCAACAAAAGCACAAACACCACAATATGAAATGAACACCTAAAACCATTCCTTTCACCAGCCCAGGGACATTGAGACAATAAATACTGAAACAATCACTTCAGAGCAGTGTGTAACAGAAGACAAGAGTCATTTTAAAAAGCAACAGGGAAAAAACCCAACCCAGAAACCCAGATAGTGGTGGAAATTAACATCTTGATAAAGACAGAGAAGCCTAGATAAAGCCAGAGGATAGTGTGTGGGGAGAGTGAAAACCGATACAAATTTTCCAGGAAAAGGATTGGATCAAAGTAATGAAAGTGTAATGTCAAAGAATACTTTCCTAAAATACAGACAGTATGTCATTCCTACTCTTGTTATTCATAGGCAGTTCAAACTTCTCTAGACGTACTTCAAAACAAAAACCTTTTAGAATTATTGGGTGGGAGAAATCTTGGGACAGAAAAAAAACTTTGGGATGGGAATGGGGATGACAAGAATTGATGGGTCAGAGTTCCAAATGCAGATGCTTTTCCTGTGCCCTGCCTTAGCCAGAAATAGCTTCTTCATGAGCAGGGCCACCAGCTGAGGTCCCCACACTCTACCAGTGTTGGTAAATGTGGGTAAACACCTTAAATTGCCTCAGGATTCAATCCCTCCCACTATCCTCCAAGAACAGGGTGAAGTTCTGAATATATCTCTCTATACAAATGCATTCTATTGTTGATACTTTTTCCAGAGAGGAGGAAATTAACAGTAATAGTAATCAATATTATTGACTGCAACGAAATGTCTTCTTTGGAAATTGACTGATGGTCACGTATCAAGGGGAGATGCTGGGTTTTCTCTCAGGGAAGACATTTCACTCTGTCACCTACTTGGTTTCAAAGAGAAGGAGGTGGAAGGAGGGGCCAAAAAGTTTAAGGTATGCTGCATACACTGACAGGCTCCTCAGAGCAACTGGCTGGGTAGCAAGGGGGCTGTGACTGAAGAACATGACAGAAGCCAATCCATTGTACAGCAACCACCAAGGCCAAATCTACTTGCCACCTTCCTCATATCTGCCAAGTGCTCACAAGGCCTTGTCGATGAAAGGGAAACTGAGGCAGCCAATGGGGTGAGAGGGCAAAGGTCACTTCAGGTTGAGGCAGAGGCAGGATGAAAACACTTACGTCGGAGGATCTCTCGTTGCTTTCTGACGTACCAGGTGTACAGAGCGGCACGCTTCTGGGTCTTCATAGGGGTGCCCTTGTTGAGATGCTGGGAGAGGTGCGACTGGTTCAGGCCGGTGACATCGACCACCTCCCTCTGGGGGATGCTGTGTTGCTGCATGTAACCCTTGATCATTTTAGCAGCCCTCCAAGGGTCCTCACTAGACAGACAAGCAGATGGTTAGGGTACTAGTGGGAGACATCTGGGGAGAAACATTCTTTTTCTAGGGGGTGCTACCTATGGTCTATGCAAAATTCTGAATTTTCCCCCCATCTAAGCTACAACTTTGGGGTAGACATGAGGCCAAAATGGAAGCTAAACAGAGGAGAAGGTGACTGCCCCTGTACGGTACACCTCATCCCTTTCTTCTGAGGTTAGTGGGCAAAAGAGGACTTCCCATCTTCAGGAATAAAAAAGCACCACCACCACTCTCTCTTATTAAGCAAAAAGAAAAGCTCTTGTTTTATTTAATTAATTAATTAATTTATTTATTATTATTTTTTTTGATGTGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAACGGCATCTTGGCTCACTGCAACCTCCACCAGGATCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAACTGGGATTATAGATGCCCAGCACCACACCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCACACTCCTGACCTTAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCCATTTTATTTTGCTTTCCTCCATTTTCCTGCAATGTGGGAGATTTAAAAGGCAGGAGGCCCACTGGAAAGTGGGGATGCCTTTAGCTTGGGGCTGGACTCCCTGATCCTACAATGAAGTAGGGATAGCATCAGTTTCTGAATTTGCCCAATTTTAGCTTCAACCTCTCCTACATTATTTTCCTTTTGAATGGGTATCTCCATTTCTTATAAAACAGGGGTGAAATGTATGTGTTCACCTTCTAAGAAGCAAGGAGGATGTCTTAGCCAAATAGTAAATAATTTTCAGAGTTTTAGAAAAGTTTTCCAAAATACAATGTTGTATCTCCTTGGGACGGGAGGATCACACCACTGAGGTGAGGCAAGTAGTTAAAAAAAAAAAAAATCCACAGCTCCACCTTCCAGACAAAATCTACTGGGCTAATGGGGACAAATAACTTCAATTTCGGACATTAACAATTTTAGATGCTTGTTTTCCTGTATTATGTTTCTCATAAATTTTAAATACTGGATAAGAACATGGTTATACTTTTCATTTCTCATAAACACAGGTGTGTAAACTGCTAGTTTTAGCACCTTTGAATTTTATTTGTCTAGAATGGTTTCAACTTTGCCAATATCTTTTCTTGCTTATTGAACAGATGCTTTGAAAAGAGAGATATAATTTAAAACTAGAAATTAAAATAGTGTGCAGCACAGAACAAAAGTACTAAAGAAGCAATATATACATGTTTACTATTTATTTAATGCAGGTACATATTTAACTTACAAAAACCAGCACCCCATTACTGTATGTTGATATATATATTAGCTTGATAGAACAAGAAAAAAAACGGAAGGGAAAACTAGTTTCAGGTGAAACAAAAAAGAAAACGGTGTAGAGGCTGAAATAGATACAGCATTGCAACATAATAAGCAATTTTATTTCTAAATGGCGCCTTTAAATATGTCAAATAAAATTAATTCTGTTTAATGAATAAAAATCCAGTAATCGAACATATTTTATAAGCATTTGGGTAGTTGTGATTATTTTATTAAGACTTTGATATTAAACTCGTGAGAACACAGGCTTTGATAGAGATGTTTTTGAGAAATGCAAACTTTTTATATTAATTATATATAAGAACGAATTTCTCAAGTATTTACAAAGGTAATTTCCAAGTACACAATATGAGGAAGTAACAAGAAGAACAAAAAATGAGAAAACGAGTTACAGTTTCAAACGTGGAGAATTCACATTAAGAGGAAAATAATGTAATAAACGTTTTAGACATATCCTTGTAAACATCACAGATCATTTAAAAGTTTATTTCTGGTCAATATTTCCACCGATATTTTTAGGATGGAAAAATACTTTCAACGGCTACG
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Task1_train_24206
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This sequence change occurs on Chromosome 17, altering HNF1B (HNF1 homeobox B). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Renal cysts and diabetes syndrome
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TCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAACAACAATCTCTTGAAGAGGCTGTTGTATTTGTAAAACGTCCCTTCCTCAGCATCTTGAGAAACTTTCTGGACCTCTGTCTTTTGAGAAGTTTCCAGTCTGCCTTTCCTGCCTCCTTCTCCTTTCTGAAGAAATTCTCATTGAATACAGAGAGGCAGCACAGACTGGAAATGCTGCATAAAGCTTAAATTGGGCAGGGCCCAAGCGTTGTTGGGTCTTTGGAGACAATGGCTCCTGAGAATTTTTTTAGGCTTTCCAGGAACTACAGAGAGTTGCTTCATGTCAGGAACACAAATTCTTAAAGAGCTAGTCACCAAGTATGGGGGGCCAACCCATTCTTGGAAAGGTCTCTCGCTCTAAGCAGCAAACAGCTCTCATGTTGCTTCTTCCAATCTATTCATGTAATGCTCCCAACAAAAGCACAAACACCACAATATGAAATGAACACCTAAAACCATTCCTTTCACCAGCCCAGGGACATTGAGACAATAAATACTGAAACAATCACTTCAGAGCAGTGTGTAACAGAAGACAAGAGTCATTTTAAAAAGCAACAGGGAAAAAACCCAACCCAGAAACCCAGATAGTGGTGGAAATTAACATCTTGATAAAGACAGAGAAGCCTAGATAAAGCCAGAGGATAGTGTGTGGGGAGAGTGAAAACCGATACAAATTTTCCAGGAAAAGGATTGGATCAAAGTAATGAAAGTGTAATGTCAAAGAATACTTTCCTAAAATACAGACAGTATGTCATTCCTACTCTTGTTATTCATAGGCAGTTCAAACTTCTCTAGACGTACTTCAAAACAAAAACCTTTTAGAATTATTGGGTGGGAGAAATCTTGGGACAGAAAAAAAACTTTGGGATGGGAATGGGGATGACAAGAATTGATGGGTCAGAGTTCCAAATGCAGATGCTTTTCCTGTGCCCTGCCTTAGCCAGAAATAGCTTCTTCATGAGCAGGGCCACCAGCTGAGGTCCCCACACTCTACCAGTGTTGGTAAATGTGGGTAAACACCTTAAATTGCCTCAGGATTCAATCCCTCCCACTATCCTCCAAGAACAGGGTGAAGTTCTGAATATATCTCTCTATACAAATGCATTCTATTGTTGATACTTTTTCCAGAGAGGAGGAAATTAACAGTAATAGTAATCAATATTATTGACTGCAACGAAATGTCTTCTTTGGAAATTGACTGATGGTCACGTATCAAGGGGAGATGCTGGGTTTTCTCTCAGGGAAGACATTTCACTCTGTCACCTACTTGGTTTCAAAGAGAAGGAGGTGGAAGGAGGGGCCAAAAAGTTTAAGGTATGCTGCATACACTGACAGGCTCCTCAGAGCAACTGGCTGGGTAGCAAGGGGGCTGTGACTGAAGAACATGACAGAAGCCAATCCATTGTACAGCAACCACCAAGGCCAAATCTACTTGCCACCTTCCTCATATCTGCCAAGTGCTCACAAGGCCTTGTCGATGAAAGGGAAACTGAGGCAGCCAATGGGGTGAGAGGGCAAAGGTCACTTCAGGTTGAGGCAGAGGCAGGATGAAAACACTTACGTCGGAGGATCTCTCGTTGCTTTCTGACGTACCAGGTGTACAGAGCGGCACGCTTCTGGGTCTTCATAGGGGTGCCCTTGTTGAGATGCTGGGAGAGGTGCGACTGGTTCAGGCCGGTGACATCGACCACCTCCCTCTGGGGGATGTTGTGTTGCTGCATGTAACCCTTGATCATTTTAGCAGCCCTCCAAGGGTCCTCACTAGACAGACAAGCAGATGGTTAGGGTACTAGTGGGAGACATCTGGGGAGAAACATTCTTTTTCTAGGGGGTGCTACCTATGGTCTATGCAAAATTCTGAATTTTCCCCCCATCTAAGCTACAACTTTGGGGTAGACATGAGGCCAAAATGGAAGCTAAACAGAGGAGAAGGTGACTGCCCCTGTACGGTACACCTCATCCCTTTCTTCTGAGGTTAGTGGGCAAAAGAGGACTTCCCATCTTCAGGAATAAAAAAGCACCACCACCACTCTCTCTTATTAAGCAAAAAGAAAAGCTCTTGTTTTATTTAATTAATTAATTAATTTATTTATTATTATTTTTTTTGATGTGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAACGGCATCTTGGCTCACTGCAACCTCCACCAGGATCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAACTGGGATTATAGATGCCCAGCACCACACCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCACACTCCTGACCTTAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCCATTTTATTTTGCTTTCCTCCATTTTCCTGCAATGTGGGAGATTTAAAAGGCAGGAGGCCCACTGGAAAGTGGGGATGCCTTTAGCTTGGGGCTGGACTCCCTGATCCTACAATGAAGTAGGGATAGCATCAGTTTCTGAATTTGCCCAATTTTAGCTTCAACCTCTCCTACATTATTTTCCTTTTGAATGGGTATCTCCATTTCTTATAAAACAGGGGTGAAATGTATGTGTTCACCTTCTAAGAAGCAAGGAGGATGTCTTAGCCAAATAGTAAATAATTTTCAGAGTTTTAGAAAAGTTTTCCAAAATACAATGTTGTATCTCCTTGGGACGGGAGGATCACACCACTGAGGTGAGGCAAGTAGTTAAAAAAAAAAAAAATCCACAGCTCCACCTTCCAGACAAAATCTACTGGGCTAATGGGGACAAATAACTTCAATTTCGGACATTAACAATTTTAGATGCTTGTTTTCCTGTATTATGTTTCTCATAAATTTTAAATACTGGATAAGAACATGGTTATACTTTTCATTTCTCATAAACACAGGTGTGTAAACTGCTAGTTTTAGCACCTTTGAATTTTATTTGTCTAGAATGGTTTCAACTTTGCCAATATCTTTTCTTGCTTATTGAACAGATGCTTTGAAAAGAGAGATATAATTTAAAACTAGAAATTAAAATAGTGTGCAGCACAGAACAAAAGTACTAAAGAAGCAATATATACATGTTTACTATTTATTTAATGCAGGTACATATTTAACTTACAAAAACCAGCACCCCATTACTGTATGTTGATATATATATTAGCTTGATAGAACAAGAAAAAAAACGGAAGGGAAAACTAGTTTCAGGTGAAACAAAAAAGAAAACGGTGTAGAGGCTGAAATAGATACAGCATTGCAACATAATAAGCAATTTTATTTCTAAATGGCGCCTTTAAATATGTCAAATAAAATTAATTCTGTTTAATGAATAAAAATCCAGTAATCGAACATATTTTATAAGCATTTGGGTAGTTGTGATTATTTTATTAAGACTTTGATATTAAACTCGTGAGAACACAGGCTTTGATAGAGATGTTTTTGAGAAATGCAAACTTTTTATATTAATTATATATAAGAACGAATTTCTCAAGTATTTACAAAGGTAATTTCCAAGTACACAATATGAGGAAGTAACAAGAAGAACAAAAAATGAGAAAACGAGTTACAGTTTCAAACGTGGAGAATTCACATTAAGAGGAAAATAATGTAATAAACGTTTTAGACATATCCTTGTAAACATCACAGATCATTTAAAAGTTTATTTCTGGTCAATATTTCCACCGATATTTTTAGGATGGAAAAATACTTTCAACGGCTACGAACAAGACTCCTCGAACCTTAGGG
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TCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAACAACAATCTCTTGAAGAGGCTGTTGTATTTGTAAAACGTCCCTTCCTCAGCATCTTGAGAAACTTTCTGGACCTCTGTCTTTTGAGAAGTTTCCAGTCTGCCTTTCCTGCCTCCTTCTCCTTTCTGAAGAAATTCTCATTGAATACAGAGAGGCAGCACAGACTGGAAATGCTGCATAAAGCTTAAATTGGGCAGGGCCCAAGCGTTGTTGGGTCTTTGGAGACAATGGCTCCTGAGAATTTTTTTAGGCTTTCCAGGAACTACAGAGAGTTGCTTCATGTCAGGAACACAAATTCTTAAAGAGCTAGTCACCAAGTATGGGGGGCCAACCCATTCTTGGAAAGGTCTCTCGCTCTAAGCAGCAAACAGCTCTCATGTTGCTTCTTCCAATCTATTCATGTAATGCTCCCAACAAAAGCACAAACACCACAATATGAAATGAACACCTAAAACCATTCCTTTCACCAGCCCAGGGACATTGAGACAATAAATACTGAAACAATCACTTCAGAGCAGTGTGTAACAGAAGACAAGAGTCATTTTAAAAAGCAACAGGGAAAAAACCCAACCCAGAAACCCAGATAGTGGTGGAAATTAACATCTTGATAAAGACAGAGAAGCCTAGATAAAGCCAGAGGATAGTGTGTGGGGAGAGTGAAAACCGATACAAATTTTCCAGGAAAAGGATTGGATCAAAGTAATGAAAGTGTAATGTCAAAGAATACTTTCCTAAAATACAGACAGTATGTCATTCCTACTCTTGTTATTCATAGGCAGTTCAAACTTCTCTAGACGTACTTCAAAACAAAAACCTTTTAGAATTATTGGGTGGGAGAAATCTTGGGACAGAAAAAAAACTTTGGGATGGGAATGGGGATGACAAGAATTGATGGGTCAGAGTTCCAAATGCAGATGCTTTTCCTGTGCCCTGCCTTAGCCAGAAATAGCTTCTTCATGAGCAGGGCCACCAGCTGAGGTCCCCACACTCTACCAGTGTTGGTAAATGTGGGTAAACACCTTAAATTGCCTCAGGATTCAATCCCTCCCACTATCCTCCAAGAACAGGGTGAAGTTCTGAATATATCTCTCTATACAAATGCATTCTATTGTTGATACTTTTTCCAGAGAGGAGGAAATTAACAGTAATAGTAATCAATATTATTGACTGCAACGAAATGTCTTCTTTGGAAATTGACTGATGGTCACGTATCAAGGGGAGATGCTGGGTTTTCTCTCAGGGAAGACATTTCACTCTGTCACCTACTTGGTTTCAAAGAGAAGGAGGTGGAAGGAGGGGCCAAAAAGTTTAAGGTATGCTGCATACACTGACAGGCTCCTCAGAGCAACTGGCTGGGTAGCAAGGGGGCTGTGACTGAAGAACATGACAGAAGCCAATCCATTGTACAGCAACCACCAAGGCCAAATCTACTTGCCACCTTCCTCATATCTGCCAAGTGCTCACAAGGCCTTGTCGATGAAAGGGAAACTGAGGCAGCCAATGGGGTGAGAGGGCAAAGGTCACTTCAGGTTGAGGCAGAGGCAGGATGAAAACACTTACGTCGGAGGATCTCTCGTTGCTTTCTGACGTACCAGGTGTACAGAGCGGCACGCTTCTGGGTCTTCATAGGGGTGCCCTTGTTGAGATGCTGGGAGAGGTGCGACTGGTTCAGGCCGGTGACATCGACCACCTCCCTCTGGGGGATGTTGTGTTGCTGCATGTAACCCTTGGTCATTTTAGCAGCCCTCCAAGGGTCCTCACTAGACAGACAAGCAGATGGTTAGGGTACTAGTGGGAGACATCTGGGGAGAAACATTCTTTTTCTAGGGGGTGCTACCTATGGTCTATGCAAAATTCTGAATTTTCCCCCCATCTAAGCTACAACTTTGGGGTAGACATGAGGCCAAAATGGAAGCTAAACAGAGGAGAAGGTGACTGCCCCTGTACGGTACACCTCATCCCTTTCTTCTGAGGTTAGTGGGCAAAAGAGGACTTCCCATCTTCAGGAATAAAAAAGCACCACCACCACTCTCTCTTATTAAGCAAAAAGAAAAGCTCTTGTTTTATTTAATTAATTAATTAATTTATTTATTATTATTTTTTTTGATGTGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAACGGCATCTTGGCTCACTGCAACCTCCACCAGGATCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAACTGGGATTATAGATGCCCAGCACCACACCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCACACTCCTGACCTTAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCCATTTTATTTTGCTTTCCTCCATTTTCCTGCAATGTGGGAGATTTAAAAGGCAGGAGGCCCACTGGAAAGTGGGGATGCCTTTAGCTTGGGGCTGGACTCCCTGATCCTACAATGAAGTAGGGATAGCATCAGTTTCTGAATTTGCCCAATTTTAGCTTCAACCTCTCCTACATTATTTTCCTTTTGAATGGGTATCTCCATTTCTTATAAAACAGGGGTGAAATGTATGTGTTCACCTTCTAAGAAGCAAGGAGGATGTCTTAGCCAAATAGTAAATAATTTTCAGAGTTTTAGAAAAGTTTTCCAAAATACAATGTTGTATCTCCTTGGGACGGGAGGATCACACCACTGAGGTGAGGCAAGTAGTTAAAAAAAAAAAAAATCCACAGCTCCACCTTCCAGACAAAATCTACTGGGCTAATGGGGACAAATAACTTCAATTTCGGACATTAACAATTTTAGATGCTTGTTTTCCTGTATTATGTTTCTCATAAATTTTAAATACTGGATAAGAACATGGTTATACTTTTCATTTCTCATAAACACAGGTGTGTAAACTGCTAGTTTTAGCACCTTTGAATTTTATTTGTCTAGAATGGTTTCAACTTTGCCAATATCTTTTCTTGCTTATTGAACAGATGCTTTGAAAAGAGAGATATAATTTAAAACTAGAAATTAAAATAGTGTGCAGCACAGAACAAAAGTACTAAAGAAGCAATATATACATGTTTACTATTTATTTAATGCAGGTACATATTTAACTTACAAAAACCAGCACCCCATTACTGTATGTTGATATATATATTAGCTTGATAGAACAAGAAAAAAAACGGAAGGGAAAACTAGTTTCAGGTGAAACAAAAAAGAAAACGGTGTAGAGGCTGAAATAGATACAGCATTGCAACATAATAAGCAATTTTATTTCTAAATGGCGCCTTTAAATATGTCAAATAAAATTAATTCTGTTTAATGAATAAAAATCCAGTAATCGAACATATTTTATAAGCATTTGGGTAGTTGTGATTATTTTATTAAGACTTTGATATTAAACTCGTGAGAACACAGGCTTTGATAGAGATGTTTTTGAGAAATGCAAACTTTTTATATTAATTATATATAAGAACGAATTTCTCAAGTATTTACAAAGGTAATTTCCAAGTACACAATATGAGGAAGTAACAAGAAGAACAAAAAATGAGAAAACGAGTTACAGTTTCAAACGTGGAGAATTCACATTAAGAGGAAAATAATGTAATAAACGTTTTAGACATATCCTTGTAAACATCACAGATCATTTAAAAGTTTATTTCTGGTCAATATTTCCACCGATATTTTTAGGATGGAAAAATACTTTCAACGGCTACGAACAAGACTCCTCGAACCTTAGGG
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Task1_train_24207
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Chromosome 17 houses a mutation in gene HNF1B (HNF1 homeobox B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Renal cysts and diabetes syndrome
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CCTAGGAACCGCTAGCGATTTCTTGAAAAATTACTTTAATCAAGTCCGGCGCTCCCGGGAGCGGGGGAGGAAAGGCAGCACCCGCTCGGGACGGGAGAAAAAAGCCTCCAGGTCTGTCCCGCGTCTCCAACTCGGCGAGGGTCTCCGGCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCACGTGCTGCAGTTTATGTTACGTCTCAGCTGCGGCCAGCCCGGCGCGGGGCTGGGTGCGGAGGGGCGCCCCAGGTCCTTCCAGCGCCGCGCTAGAAAGCGGGCGCCTGCGGCCGAGTGGGAGGGCCTAGGCCCTGTGGCCCCCGGTGGCCGGCGGTGGGAGCCTGGTTCATCCGCCAGGTCCTGAGCGACCTCCCCGGCAGCCCTGGCGCCCCAGCCGCTCCTAGGGGCCACTCTCTCGACCCCTCTTAGCCTCCGCGACTCACACCTTCCGCCTCGCGGAACTCTCTTGCAGGAGTTCTCTCCCGGTAGGGGAGAAATCACCTCCGGGCGGGAGAGCGACGAGGGAAGAACCTCAAACCTATGAATTATACCAAAGTGTGTTTGGGGAAAAAAAATCTACAAGTTCCCCTGATTGTTTTGGCTAGAGGGCAAACCGCCAGGCCCTCGGAGCACAAATTCAAATGCAAGGTCATATCCCACCCCAAACCGCCGCTGCGGACGTGCGGCCAAGGCTCAGCCCCGAAATCGCAGCGCTTCAGTGTCCGAAGCCACGCGATGGGCTCTGTCCTAAAGCGGAGTGGCCCGGGAGCGACGTGCTGTCTCAGGGAACCGCTCGGCTCCTTAGATAATTAGTAACCAGCTGTCAAAGTCTAGGGCGGTCGGGGAGGACCCACAAACGATCCCGGCCCTGGGGATACACTGCCAGCCGGCCTGAACTCCCGGGGAGAGGCCGGGGGTGGGCAGCGAGGTCTGGAAACGCCCTCCTTTCTCAGACTGAGACCAGATCCTCTGCGAACTGAGGTCTGAGACGCGTTCGCCCCCACACCACCGCGCTTGGTTTCTTTGGCCCCGCGCGTGTCCACCCGGACCCTGCATGGAACATGCCCTTTGCAAATCTAAACCCGCGTTGGGGATCCCGGATAATTCCGGGCCTTGCATGGGCGCGGCTAACAAGAGTGCCCACCAGGGAACTCGCCTCCCAGATCCCGGCTCCGGATGCCGCCTGTCCTTCGGCAAAGAACTGCAGGTCATCATGCAGGTCAATGTGTCCGAGGCCGACATGCGGCTTTCCAGACCCGAGGCAGGGCGCAGGAAAAATGCGCGGCCTGGGGCTTGCAGCGGCGCGAGGCTCTGCTCCCGGGAAGTCGCAGCGGTTTCACTGCACCCACTCGCACCTTCAGTCGCGTGGGCAAACCTCCCGGCAAAGGGCTCCACAGCTCCAGTTCTCCCCGGCCCAGCCCCAGCCCCGCGGGGAAAAGCCCTTGGGTCTCGGACGCTGGCCTGGGCCTGGGGAGAAGAAGCCCGGTGGGCCGCAGGGTCGTCCCGCTAAGGGATTGGGAAGGGTCCGGGTGTTGGGAGAGAAGCAGAGCGCCCCCCGGGGGACTTCTCTGGTGGGAAACGGGCTTGGCGAGTGTGGTCGGGCGCAGTGTCACTCAGGCCCGGGGCCGGGGCTCCAGGGGTTCGGGTGGGTCCCCTCCACCTCGCTCTGCGCCTACCTGAGCATCCGGTCCACCTCCGCCCGCTGCTCCGCCGCCTCCTCGGTGTTGAGCGCCTGCAGCTCCTTGAGGATGGGAGGTGTGTCATAGTCGTCGCCGTCCTCGGAGCCCTCGTCGCCGGACAAGCGGCCCTTGGCGTGGCCGTTGGTGAGAGTATGGAAGACCGGCTTGGTGTCGGGCTCGGCCCCGCTGCCAGGGGACAGGGGCAGCGTCTCCAGCTTCACCCCGAAGTTCGGGGATGGCAGCAACTCCTCCAAGGCCTGAACCAGCACCTCCTTGGTGACCCCGGAGCTCAGCAGGGCGCTCAGGAGTTCTTGCTGGAGCGACGTGAGCTTGGACACCATTTTCCAAGGACGGAAAAAGAAGGGGGTGAGGGGGTGGGTGGGTGCGAGAGAGGAGGGTGGAGGGGAGTTTCACAAGCAAACCCCAAATCCAGGAACCCCTCCACCCTTCAGCCTCCAGACACCTGTTACTCCCCGGGGTCCCGGAGGCTCCTCCGAAAGGAGTCAGAAAACTTCTAACTTGCCATGATCGCCACCATTAGGCCATATAAGATATGCAAATTAGTGGGAAGGGCCCAGCTTTCGGCTGGATGCAAATGATGGTGGGGAGGGGGAAACCCGGAGAGAGGGAGAGCCGGAGGGGCAGACCTGGAGAGCAGAAGACCTGGGCCGGGAGCGGGGCTTTGCCAGGGTCCATTGTACTCACGCTGGGGGGCTAGAGACCTTCTTTTACTGGTTCTGCTTATCAGCCAAACTTCACCTAACCTTTGGACTTGTTAAGCCAGTGCCTTGCAGCCTAGGCGCGGGGCTTTTCCACCGGTTCTCAGTTCCGCTTTAGTCCAGAGAGAAGACACTACGCTTCGGGGTTCAGGTGAGAGCCAGAGGAAGCTGGGGTGCTCGTGGAAGAAGGGGACGCAGGAGGAAGCGAAGAGTAGAGACCCTGGATGCGTCCCGGCCGACGCAGGTGGTGGGCCAGGAGAGCCCGCAGGGCGGAAGAGAAACTGACCACTTAGGAAGGGGCGCCGAGGCCACGGGGGAGGTGAGGCAGCGTTAGGTGTGGTGAGCATGCCCTGGAGGGACTCCATTTATTTCTACCTCGGTTACTACCTCCAGGCCCCAGAACCTCCCTGGCCTGGTCTGGCGGTTTGGGTTTGCAGAACTGCCCGCCAGAGAGCGTAGGCGAGGGTGAAGGAGTCCGGGAGAACTCTTGGAAAGAGACTACTTTATGGGTAGAGGGAGTAGCCAAAGTGAAGCTCCCCCAGCAGCTGGGCTGCACCGGCGCCCAGCCTGGCCACGCCACTGGGGAGCTGGACCCCTGGGGCTCCTCACTCTCCTGTTTAAACCCGGATGTCAAGGCGCCTCCGCCTTGGGGGAGGATGGTGAGGCAGAATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCAGTGAAAGCAAAGCTTGACCTGCAGCTGGGTGGACACTTGCAGCCGAGGGTCCCCCCGGCCCACTCATTTCTGGTTTATTCGTAGTTCCAGAACATCTGTGGTTCCCTGGGCCGGGGACGAGCTCTGTAGACGAGGTCACTGCAGCAGTGGCAGAAGTCTTGCACTCCTAGTACAGAAGGTGTCGACAGAGCTACTGAGGGAAAGATGTTTTTTTTCCCACTCTGGCCTGGGCCAGGTAGGAAGCCATAGGCCTTGCAGCACTATTGGAGTTTCACCTGCTTCCCCCCTGGTGACGGGCAGGAGGGGAGGGCGGCGGAAGCGCGCCCAAACCGGCAAGCTAGGACCTGACCTGTAGAAGAACAGGGAAAGGGGCTTCTTTGCTTCCACCACACACAGACCTAAAGCTTCTGGGGAGGAGCATAACGCTTCCCTTCTGGGAGCCTCAGTTTCCTCATCTGCAAAAAGAGGATACCACTGATAACCTTTTTTTGGGGGTTGTGTATATTGACTGAGGCCACTTGTGCAACCGCTTGGTCTAATAATAAAGTTCAACACTTTCTGGTCTGAGAAGACGGGAAGCCAGTTCCCAGTAGTAAAACTGAGTTAC
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CCTAGGAACCGCTAGCGATTTCTTGAAAAATTACTTTAATCAAGTCCGGCGCTCCCGGGAGCGGGGGAGGAAAGGCAGCACCCGCTCGGGACGGGAGAAAAAAGCCTCCAGGTCTGTCCCGCGTCTCCAACTCGGCGAGGGTCTCCGGCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCACGTGCTGCAGTTTATGTTACGTCTCAGCTGCGGCCAGCCCGGCGCGGGGCTGGGTGCGGAGGGGCGCCCCAGGTCCTTCCAGCGCCGCGCTAGAAAGCGGGCGCCTGCGGCCGAGTGGGAGGGCCTAGGCCCTGTGGCCCCCGGTGGCCGGCGGTGGGAGCCTGGTTCATCCGCCAGGTCCTGAGCGACCTCCCCGGCAGCCCTGGCGCCCCAGCCGCTCCTAGGGGCCACTCTCTCGACCCCTCTTAGCCTCCGCGACTCACACCTTCCGCCTCGCGGAACTCTCTTGCAGGAGTTCTCTCCCGGTAGGGGAGAAATCACCTCCGGGCGGGAGAGCGACGAGGGAAGAACCTCAAACCTATGAATTATACCAAAGTGTGTTTGGGGAAAAAAAATCTACAAGTTCCCCTGATTGTTTTGGCTAGAGGGCAAACCGCCAGGCCCTCGGAGCACAAATTCAAATGCAAGGTCATATCCCACCCCAAACCGCCGCTGCGGACGTGCGGCCAAGGCTCAGCCCCGAAATCGCAGCGCTTCAGTGTCCGAAGCCACGCGATGGGCTCTGTCCTAAAGCGGAGTGGCCCGGGAGCGACGTGCTGTCTCAGGGAACCGCTCGGCTCCTTAGATAATTAGTAACCAGCTGTCAAAGTCTAGGGCGGTCGGGGAGGACCCACAAACGATCCCGGCCCTGGGGATACACTGCCAGCCGGCCTGAACTCCCGGGGAGAGGCCGGGGGTGGGCAGCGAGGTCTGGAAACGCCCTCCTTTCTCAGACTGAGACCAGATCCTCTGCGAACTGAGGTCTGAGACGCGTTCGCCCCCACACCACCGCGCTTGGTTTCTTTGGCCCCGCGCGTGTCCACCCGGACCCTGCATGGAACATGCCCTTTGCAAATCTAAACCCGCGTTGGGGATCCCGGATAATTCCGGGCCTTGCATGGGCGCGGCTAACAAGAGTGCCCACCAGGGAACTCGCCTCCCAGATCCCGGCTCCGGATGCCGCCTGTCCTTCGGCAAAGAACTGCAGGTCATCATGCAGGTCAATGTGTCCGAGGCCGACATGCGGCTTTCCAGACCCGAGGCAGGGCGCAGGAAAAATGCGCGGCCTGGGGCTTGCAGCGGCGCGAGGCTCTGCTCCCGGGAAGTCGCAGCGGTTTCACTGCACCCACTCGCACCTTCAGTCGCGTGGGCAAACCTCCCGGCAAAGGGCTCCACAGCTCCAGTTCTCCCCGGCCCAGCCCCAGCCCCGCGGGGAAAAGCCCTTGGGTCTCGGACGCTGGCCTGGGCCTGGGGAGAAGAAGCCCGGTGGGCCGCAGGGTCGTCCCGCTAAGGGATTGGGAAGGGTCCGGGTGTTGGGAGAGAAGCAGAGCGCCCCCCGGGGGACTTCTCTGGTGGGAAACGGGCTTGGCGAGTGTGGTCGGGCGCAGTGTCACTCAGGCCCGGGGCCGGGGCTCCAGGGGTTCGGGTGGGTCCCCTCCACCTCGCTCTGCGCCTACCTGAGCATCGGGTCCACCTCCGCCCGCTGCTCCGCCGCCTCCTCGGTGTTGAGCGCCTGCAGCTCCTTGAGGATGGGAGGTGTGTCATAGTCGTCGCCGTCCTCGGAGCCCTCGTCGCCGGACAAGCGGCCCTTGGCGTGGCCGTTGGTGAGAGTATGGAAGACCGGCTTGGTGTCGGGCTCGGCCCCGCTGCCAGGGGACAGGGGCAGCGTCTCCAGCTTCACCCCGAAGTTCGGGGATGGCAGCAACTCCTCCAAGGCCTGAACCAGCACCTCCTTGGTGACCCCGGAGCTCAGCAGGGCGCTCAGGAGTTCTTGCTGGAGCGACGTGAGCTTGGACACCATTTTCCAAGGACGGAAAAAGAAGGGGGTGAGGGGGTGGGTGGGTGCGAGAGAGGAGGGTGGAGGGGAGTTTCACAAGCAAACCCCAAATCCAGGAACCCCTCCACCCTTCAGCCTCCAGACACCTGTTACTCCCCGGGGTCCCGGAGGCTCCTCCGAAAGGAGTCAGAAAACTTCTAACTTGCCATGATCGCCACCATTAGGCCATATAAGATATGCAAATTAGTGGGAAGGGCCCAGCTTTCGGCTGGATGCAAATGATGGTGGGGAGGGGGAAACCCGGAGAGAGGGAGAGCCGGAGGGGCAGACCTGGAGAGCAGAAGACCTGGGCCGGGAGCGGGGCTTTGCCAGGGTCCATTGTACTCACGCTGGGGGGCTAGAGACCTTCTTTTACTGGTTCTGCTTATCAGCCAAACTTCACCTAACCTTTGGACTTGTTAAGCCAGTGCCTTGCAGCCTAGGCGCGGGGCTTTTCCACCGGTTCTCAGTTCCGCTTTAGTCCAGAGAGAAGACACTACGCTTCGGGGTTCAGGTGAGAGCCAGAGGAAGCTGGGGTGCTCGTGGAAGAAGGGGACGCAGGAGGAAGCGAAGAGTAGAGACCCTGGATGCGTCCCGGCCGACGCAGGTGGTGGGCCAGGAGAGCCCGCAGGGCGGAAGAGAAACTGACCACTTAGGAAGGGGCGCCGAGGCCACGGGGGAGGTGAGGCAGCGTTAGGTGTGGTGAGCATGCCCTGGAGGGACTCCATTTATTTCTACCTCGGTTACTACCTCCAGGCCCCAGAACCTCCCTGGCCTGGTCTGGCGGTTTGGGTTTGCAGAACTGCCCGCCAGAGAGCGTAGGCGAGGGTGAAGGAGTCCGGGAGAACTCTTGGAAAGAGACTACTTTATGGGTAGAGGGAGTAGCCAAAGTGAAGCTCCCCCAGCAGCTGGGCTGCACCGGCGCCCAGCCTGGCCACGCCACTGGGGAGCTGGACCCCTGGGGCTCCTCACTCTCCTGTTTAAACCCGGATGTCAAGGCGCCTCCGCCTTGGGGGAGGATGGTGAGGCAGAATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCAGTGAAAGCAAAGCTTGACCTGCAGCTGGGTGGACACTTGCAGCCGAGGGTCCCCCCGGCCCACTCATTTCTGGTTTATTCGTAGTTCCAGAACATCTGTGGTTCCCTGGGCCGGGGACGAGCTCTGTAGACGAGGTCACTGCAGCAGTGGCAGAAGTCTTGCACTCCTAGTACAGAAGGTGTCGACAGAGCTACTGAGGGAAAGATGTTTTTTTTCCCACTCTGGCCTGGGCCAGGTAGGAAGCCATAGGCCTTGCAGCACTATTGGAGTTTCACCTGCTTCCCCCCTGGTGACGGGCAGGAGGGGAGGGCGGCGGAAGCGCGCCCAAACCGGCAAGCTAGGACCTGACCTGTAGAAGAACAGGGAAAGGGGCTTCTTTGCTTCCACCACACACAGACCTAAAGCTTCTGGGGAGGAGCATAACGCTTCCCTTCTGGGAGCCTCAGTTTCCTCATCTGCAAAAAGAGGATACCACTGATAACCTTTTTTTGGGGGTTGTGTATATTGACTGAGGCCACTTGTGCAACCGCTTGGTCTAATAATAAAGTTCAACACTTTCTGGTCTGAGAAGACGGGAAGCCAGTTCCCAGTAGTAAAACTGAGTTAC
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Task1_train_24208
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A mutation on Chromosome 17 affecting HNF1B (HNF1 homeobox B) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Maturity onset diabetes mellitus in young
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TGTCCCGCGTCTCCAACTCGGCGAGGGTCTCCGGCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCACGTGCTGCAGTTTATGTTACGTCTCAGCTGCGGCCAGCCCGGCGCGGGGCTGGGTGCGGAGGGGCGCCCCAGGTCCTTCCAGCGCCGCGCTAGAAAGCGGGCGCCTGCGGCCGAGTGGGAGGGCCTAGGCCCTGTGGCCCCCGGTGGCCGGCGGTGGGAGCCTGGTTCATCCGCCAGGTCCTGAGCGACCTCCCCGGCAGCCCTGGCGCCCCAGCCGCTCCTAGGGGCCACTCTCTCGACCCCTCTTAGCCTCCGCGACTCACACCTTCCGCCTCGCGGAACTCTCTTGCAGGAGTTCTCTCCCGGTAGGGGAGAAATCACCTCCGGGCGGGAGAGCGACGAGGGAAGAACCTCAAACCTATGAATTATACCAAAGTGTGTTTGGGGAAAAAAAATCTACAAGTTCCCCTGATTGTTTTGGCTAGAGGGCAAACCGCCAGGCCCTCGGAGCACAAATTCAAATGCAAGGTCATATCCCACCCCAAACCGCCGCTGCGGACGTGCGGCCAAGGCTCAGCCCCGAAATCGCAGCGCTTCAGTGTCCGAAGCCACGCGATGGGCTCTGTCCTAAAGCGGAGTGGCCCGGGAGCGACGTGCTGTCTCAGGGAACCGCTCGGCTCCTTAGATAATTAGTAACCAGCTGTCAAAGTCTAGGGCGGTCGGGGAGGACCCACAAACGATCCCGGCCCTGGGGATACACTGCCAGCCGGCCTGAACTCCCGGGGAGAGGCCGGGGGTGGGCAGCGAGGTCTGGAAACGCCCTCCTTTCTCAGACTGAGACCAGATCCTCTGCGAACTGAGGTCTGAGACGCGTTCGCCCCCACACCACCGCGCTTGGTTTCTTTGGCCCCGCGCGTGTCCACCCGGACCCTGCATGGAACATGCCCTTTGCAAATCTAAACCCGCGTTGGGGATCCCGGATAATTCCGGGCCTTGCATGGGCGCGGCTAACAAGAGTGCCCACCAGGGAACTCGCCTCCCAGATCCCGGCTCCGGATGCCGCCTGTCCTTCGGCAAAGAACTGCAGGTCATCATGCAGGTCAATGTGTCCGAGGCCGACATGCGGCTTTCCAGACCCGAGGCAGGGCGCAGGAAAAATGCGCGGCCTGGGGCTTGCAGCGGCGCGAGGCTCTGCTCCCGGGAAGTCGCAGCGGTTTCACTGCACCCACTCGCACCTTCAGTCGCGTGGGCAAACCTCCCGGCAAAGGGCTCCACAGCTCCAGTTCTCCCCGGCCCAGCCCCAGCCCCGCGGGGAAAAGCCCTTGGGTCTCGGACGCTGGCCTGGGCCTGGGGAGAAGAAGCCCGGTGGGCCGCAGGGTCGTCCCGCTAAGGGATTGGGAAGGGTCCGGGTGTTGGGAGAGAAGCAGAGCGCCCCCCGGGGGACTTCTCTGGTGGGAAACGGGCTTGGCGAGTGTGGTCGGGCGCAGTGTCACTCAGGCCCGGGGCCGGGGCTCCAGGGGTTCGGGTGGGTCCCCTCCACCTCGCTCTGCGCCTACCTGAGCATCCGGTCCACCTCCGCCCGCTGCTCCGCCGCCTCCTCGGTGTTGAGCGCCTGCAGCTCCTTGAGGATGGGAGGTGTGTCATAGTCGTCGCCGTCCTCGGAGCCCTCGTCGCCGGACAAGCGGCCCTTGGCGTGGCCGTTGGTGAGAGTATGGAAGACCGGCTTGGTGTCGGGCTCGGCCCCGCTGCCAGGGGACAGGGGCAGCGTCTCCAGCTTCACCCCGAAGTTCGGGGATGGCAGCAACTCCTCCAAGGCCTGAACCAGCACCTCCTTGGTGACCCCGGAGCTCAGCAGGGCGCTCAGGAGTTCTTGCTGGAGCGACGTGAGCTTGGACACCATTTTCCAAGGACGGAAAAAGAAGGGGGTGAGGGGGTGGGTGGGTGCGAGAGAGGAGGGTGGAGGGGAGTTTCACAAGCAAACCCCAAATCCAGGAACCCCTCCACCCTTCAGCCTCCAGACACCTGTTACTCCCCGGGGTCCCGGAGGCTCCTCCGAAAGGAGTCAGAAAACTTCTAACTTGCCATGATCGCCACCATTAGGCCATATAAGATATGCAAATTAGTGGGAAGGGCCCAGCTTTCGGCTGGATGCAAATGATGGTGGGGAGGGGGAAACCCGGAGAGAGGGAGAGCCGGAGGGGCAGACCTGGAGAGCAGAAGACCTGGGCCGGGAGCGGGGCTTTGCCAGGGTCCATTGTACTCACGCTGGGGGGCTAGAGACCTTCTTTTACTGGTTCTGCTTATCAGCCAAACTTCACCTAACCTTTGGACTTGTTAAGCCAGTGCCTTGCAGCCTAGGCGCGGGGCTTTTCCACCGGTTCTCAGTTCCGCTTTAGTCCAGAGAGAAGACACTACGCTTCGGGGTTCAGGTGAGAGCCAGAGGAAGCTGGGGTGCTCGTGGAAGAAGGGGACGCAGGAGGAAGCGAAGAGTAGAGACCCTGGATGCGTCCCGGCCGACGCAGGTGGTGGGCCAGGAGAGCCCGCAGGGCGGAAGAGAAACTGACCACTTAGGAAGGGGCGCCGAGGCCACGGGGGAGGTGAGGCAGCGTTAGGTGTGGTGAGCATGCCCTGGAGGGACTCCATTTATTTCTACCTCGGTTACTACCTCCAGGCCCCAGAACCTCCCTGGCCTGGTCTGGCGGTTTGGGTTTGCAGAACTGCCCGCCAGAGAGCGTAGGCGAGGGTGAAGGAGTCCGGGAGAACTCTTGGAAAGAGACTACTTTATGGGTAGAGGGAGTAGCCAAAGTGAAGCTCCCCCAGCAGCTGGGCTGCACCGGCGCCCAGCCTGGCCACGCCACTGGGGAGCTGGACCCCTGGGGCTCCTCACTCTCCTGTTTAAACCCGGATGTCAAGGCGCCTCCGCCTTGGGGGAGGATGGTGAGGCAGAATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCAGTGAAAGCAAAGCTTGACCTGCAGCTGGGTGGACACTTGCAGCCGAGGGTCCCCCCGGCCCACTCATTTCTGGTTTATTCGTAGTTCCAGAACATCTGTGGTTCCCTGGGCCGGGGACGAGCTCTGTAGACGAGGTCACTGCAGCAGTGGCAGAAGTCTTGCACTCCTAGTACAGAAGGTGTCGACAGAGCTACTGAGGGAAAGATGTTTTTTTTCCCACTCTGGCCTGGGCCAGGTAGGAAGCCATAGGCCTTGCAGCACTATTGGAGTTTCACCTGCTTCCCCCCTGGTGACGGGCAGGAGGGGAGGGCGGCGGAAGCGCGCCCAAACCGGCAAGCTAGGACCTGACCTGTAGAAGAACAGGGAAAGGGGCTTCTTTGCTTCCACCACACACAGACCTAAAGCTTCTGGGGAGGAGCATAACGCTTCCCTTCTGGGAGCCTCAGTTTCCTCATCTGCAAAAAGAGGATACCACTGATAACCTTTTTTTGGGGGTTGTGTATATTGACTGAGGCCACTTGTGCAACCGCTTGGTCTAATAATAAAGTTCAACACTTTCTGGTCTGAGAAGACGGGAAGCCAGTTCCCAGTAGTAAAACTGAGTTACTCTGGAAACTTAGGGTATTCAGAATTGGTGATACAGTGCTGGGGTTGGAGGGATTGGGGGACTAGGGTTTCAGAATCAGCAGAAAAATTGCAAAGGAGTTTCTAAGCACATTTT
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TGTCCCGCGTCTCCAACTCGGCGAGGGTCTCCGGCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCACGTGCTGCAGTTTATGTTACGTCTCAGCTGCGGCCAGCCCGGCGCGGGGCTGGGTGCGGAGGGGCGCCCCAGGTCCTTCCAGCGCCGCGCTAGAAAGCGGGCGCCTGCGGCCGAGTGGGAGGGCCTAGGCCCTGTGGCCCCCGGTGGCCGGCGGTGGGAGCCTGGTTCATCCGCCAGGTCCTGAGCGACCTCCCCGGCAGCCCTGGCGCCCCAGCCGCTCCTAGGGGCCACTCTCTCGACCCCTCTTAGCCTCCGCGACTCACACCTTCCGCCTCGCGGAACTCTCTTGCAGGAGTTCTCTCCCGGTAGGGGAGAAATCACCTCCGGGCGGGAGAGCGACGAGGGAAGAACCTCAAACCTATGAATTATACCAAAGTGTGTTTGGGGAAAAAAAATCTACAAGTTCCCCTGATTGTTTTGGCTAGAGGGCAAACCGCCAGGCCCTCGGAGCACAAATTCAAATGCAAGGTCATATCCCACCCCAAACCGCCGCTGCGGACGTGCGGCCAAGGCTCAGCCCCGAAATCGCAGCGCTTCAGTGTCCGAAGCCACGCGATGGGCTCTGTCCTAAAGCGGAGTGGCCCGGGAGCGACGTGCTGTCTCAGGGAACCGCTCGGCTCCTTAGATAATTAGTAACCAGCTGTCAAAGTCTAGGGCGGTCGGGGAGGACCCACAAACGATCCCGGCCCTGGGGATACACTGCCAGCCGGCCTGAACTCCCGGGGAGAGGCCGGGGGTGGGCAGCGAGGTCTGGAAACGCCCTCCTTTCTCAGACTGAGACCAGATCCTCTGCGAACTGAGGTCTGAGACGCGTTCGCCCCCACACCACCGCGCTTGGTTTCTTTGGCCCCGCGCGTGTCCACCCGGACCCTGCATGGAACATGCCCTTTGCAAATCTAAACCCGCGTTGGGGATCCCGGATAATTCCGGGCCTTGCATGGGCGCGGCTAACAAGAGTGCCCACCAGGGAACTCGCCTCCCAGATCCCGGCTCCGGATGCCGCCTGTCCTTCGGCAAAGAACTGCAGGTCATCATGCAGGTCAATGTGTCCGAGGCCGACATGCGGCTTTCCAGACCCGAGGCAGGGCGCAGGAAAAATGCGCGGCCTGGGGCTTGCAGCGGCGCGAGGCTCTGCTCCCGGGAAGTCGCAGCGGTTTCACTGCACCCACTCGCACCTTCAGTCGCGTGGGCAAACCTCCCGGCAAAGGGCTCCACAGCTCCAGTTCTCCCCGGCCCAGCCCCAGCCCCGCGGGGAAAAGCCCTTGGGTCTCGGACGCTGGCCTGGGCCTGGGGAGAAGAAGCCCGGTGGGCCGCAGGGTCGTCCCGCTAAGGGATTGGGAAGGGTCCGGGTGTTGGGAGAGAAGCAGAGCGCCCCCCGGGGGACTTCTCTGGTGGGAAACGGGCTTGGCGAGTGTGGTCGGGCGCAGTGTCACTCAGGCCCGGGGCCGGGGCTCCAGGGGTTCGGGTGGGTCCCCTCCACCTCGCTCTGCGCCTACCTGAGCATCCGGTCCACCTCCGCCCGCTGCTCCGCCGCCTCCTCGGTGTTGAGCGCCTGCAGCTCCTTGAGGATGGGAGGTGTGTCATAGTCGTCGCCGTCCTCGGAGCCCTCGTCGCCGGACCAGCGGCCCTTGGCGTGGCCGTTGGTGAGAGTATGGAAGACCGGCTTGGTGTCGGGCTCGGCCCCGCTGCCAGGGGACAGGGGCAGCGTCTCCAGCTTCACCCCGAAGTTCGGGGATGGCAGCAACTCCTCCAAGGCCTGAACCAGCACCTCCTTGGTGACCCCGGAGCTCAGCAGGGCGCTCAGGAGTTCTTGCTGGAGCGACGTGAGCTTGGACACCATTTTCCAAGGACGGAAAAAGAAGGGGGTGAGGGGGTGGGTGGGTGCGAGAGAGGAGGGTGGAGGGGAGTTTCACAAGCAAACCCCAAATCCAGGAACCCCTCCACCCTTCAGCCTCCAGACACCTGTTACTCCCCGGGGTCCCGGAGGCTCCTCCGAAAGGAGTCAGAAAACTTCTAACTTGCCATGATCGCCACCATTAGGCCATATAAGATATGCAAATTAGTGGGAAGGGCCCAGCTTTCGGCTGGATGCAAATGATGGTGGGGAGGGGGAAACCCGGAGAGAGGGAGAGCCGGAGGGGCAGACCTGGAGAGCAGAAGACCTGGGCCGGGAGCGGGGCTTTGCCAGGGTCCATTGTACTCACGCTGGGGGGCTAGAGACCTTCTTTTACTGGTTCTGCTTATCAGCCAAACTTCACCTAACCTTTGGACTTGTTAAGCCAGTGCCTTGCAGCCTAGGCGCGGGGCTTTTCCACCGGTTCTCAGTTCCGCTTTAGTCCAGAGAGAAGACACTACGCTTCGGGGTTCAGGTGAGAGCCAGAGGAAGCTGGGGTGCTCGTGGAAGAAGGGGACGCAGGAGGAAGCGAAGAGTAGAGACCCTGGATGCGTCCCGGCCGACGCAGGTGGTGGGCCAGGAGAGCCCGCAGGGCGGAAGAGAAACTGACCACTTAGGAAGGGGCGCCGAGGCCACGGGGGAGGTGAGGCAGCGTTAGGTGTGGTGAGCATGCCCTGGAGGGACTCCATTTATTTCTACCTCGGTTACTACCTCCAGGCCCCAGAACCTCCCTGGCCTGGTCTGGCGGTTTGGGTTTGCAGAACTGCCCGCCAGAGAGCGTAGGCGAGGGTGAAGGAGTCCGGGAGAACTCTTGGAAAGAGACTACTTTATGGGTAGAGGGAGTAGCCAAAGTGAAGCTCCCCCAGCAGCTGGGCTGCACCGGCGCCCAGCCTGGCCACGCCACTGGGGAGCTGGACCCCTGGGGCTCCTCACTCTCCTGTTTAAACCCGGATGTCAAGGCGCCTCCGCCTTGGGGGAGGATGGTGAGGCAGAATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCAGTGAAAGCAAAGCTTGACCTGCAGCTGGGTGGACACTTGCAGCCGAGGGTCCCCCCGGCCCACTCATTTCTGGTTTATTCGTAGTTCCAGAACATCTGTGGTTCCCTGGGCCGGGGACGAGCTCTGTAGACGAGGTCACTGCAGCAGTGGCAGAAGTCTTGCACTCCTAGTACAGAAGGTGTCGACAGAGCTACTGAGGGAAAGATGTTTTTTTTCCCACTCTGGCCTGGGCCAGGTAGGAAGCCATAGGCCTTGCAGCACTATTGGAGTTTCACCTGCTTCCCCCCTGGTGACGGGCAGGAGGGGAGGGCGGCGGAAGCGCGCCCAAACCGGCAAGCTAGGACCTGACCTGTAGAAGAACAGGGAAAGGGGCTTCTTTGCTTCCACCACACACAGACCTAAAGCTTCTGGGGAGGAGCATAACGCTTCCCTTCTGGGAGCCTCAGTTTCCTCATCTGCAAAAAGAGGATACCACTGATAACCTTTTTTTGGGGGTTGTGTATATTGACTGAGGCCACTTGTGCAACCGCTTGGTCTAATAATAAAGTTCAACACTTTCTGGTCTGAGAAGACGGGAAGCCAGTTCCCAGTAGTAAAACTGAGTTACTCTGGAAACTTAGGGTATTCAGAATTGGTGATACAGTGCTGGGGTTGGAGGGATTGGGGGACTAGGGTTTCAGAATCAGCAGAAAAATTGCAAAGGAGTTTCTAAGCACATTTT
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Task1_train_24209
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A mutation in HNF1B (HNF1 homeobox B), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Renal cysts and diabetes syndrome
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GAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCACGTGCTGCAGTTTATGTTACGTCTCAGCTGCGGCCAGCCCGGCGCGGGGCTGGGTGCGGAGGGGCGCCCCAGGTCCTTCCAGCGCCGCGCTAGAAAGCGGGCGCCTGCGGCCGAGTGGGAGGGCCTAGGCCCTGTGGCCCCCGGTGGCCGGCGGTGGGAGCCTGGTTCATCCGCCAGGTCCTGAGCGACCTCCCCGGCAGCCCTGGCGCCCCAGCCGCTCCTAGGGGCCACTCTCTCGACCCCTCTTAGCCTCCGCGACTCACACCTTCCGCCTCGCGGAACTCTCTTGCAGGAGTTCTCTCCCGGTAGGGGAGAAATCACCTCCGGGCGGGAGAGCGACGAGGGAAGAACCTCAAACCTATGAATTATACCAAAGTGTGTTTGGGGAAAAAAAATCTACAAGTTCCCCTGATTGTTTTGGCTAGAGGGCAAACCGCCAGGCCCTCGGAGCACAAATTCAAATGCAAGGTCATATCCCACCCCAAACCGCCGCTGCGGACGTGCGGCCAAGGCTCAGCCCCGAAATCGCAGCGCTTCAGTGTCCGAAGCCACGCGATGGGCTCTGTCCTAAAGCGGAGTGGCCCGGGAGCGACGTGCTGTCTCAGGGAACCGCTCGGCTCCTTAGATAATTAGTAACCAGCTGTCAAAGTCTAGGGCGGTCGGGGAGGACCCACAAACGATCCCGGCCCTGGGGATACACTGCCAGCCGGCCTGAACTCCCGGGGAGAGGCCGGGGGTGGGCAGCGAGGTCTGGAAACGCCCTCCTTTCTCAGACTGAGACCAGATCCTCTGCGAACTGAGGTCTGAGACGCGTTCGCCCCCACACCACCGCGCTTGGTTTCTTTGGCCCCGCGCGTGTCCACCCGGACCCTGCATGGAACATGCCCTTTGCAAATCTAAACCCGCGTTGGGGATCCCGGATAATTCCGGGCCTTGCATGGGCGCGGCTAACAAGAGTGCCCACCAGGGAACTCGCCTCCCAGATCCCGGCTCCGGATGCCGCCTGTCCTTCGGCAAAGAACTGCAGGTCATCATGCAGGTCAATGTGTCCGAGGCCGACATGCGGCTTTCCAGACCCGAGGCAGGGCGCAGGAAAAATGCGCGGCCTGGGGCTTGCAGCGGCGCGAGGCTCTGCTCCCGGGAAGTCGCAGCGGTTTCACTGCACCCACTCGCACCTTCAGTCGCGTGGGCAAACCTCCCGGCAAAGGGCTCCACAGCTCCAGTTCTCCCCGGCCCAGCCCCAGCCCCGCGGGGAAAAGCCCTTGGGTCTCGGACGCTGGCCTGGGCCTGGGGAGAAGAAGCCCGGTGGGCCGCAGGGTCGTCCCGCTAAGGGATTGGGAAGGGTCCGGGTGTTGGGAGAGAAGCAGAGCGCCCCCCGGGGGACTTCTCTGGTGGGAAACGGGCTTGGCGAGTGTGGTCGGGCGCAGTGTCACTCAGGCCCGGGGCCGGGGCTCCAGGGGTTCGGGTGGGTCCCCTCCACCTCGCTCTGCGCCTACCTGAGCATCCGGTCCACCTCCGCCCGCTGCTCCGCCGCCTCCTCGGTGTTGAGCGCCTGCAGCTCCTTGAGGATGGGAGGTGTGTCATAGTCGTCGCCGTCCTCGGAGCCCTCGTCGCCGGACAAGCGGCCCTTGGCGTGGCCGTTGGTGAGAGTATGGAAGACCGGCTTGGTGTCGGGCTCGGCCCCGCTGCCAGGGGACAGGGGCAGCGTCTCCAGCTTCACCCCGAAGTTCGGGGATGGCAGCAACTCCTCCAAGGCCTGAACCAGCACCTCCTTGGTGACCCCGGAGCTCAGCAGGGCGCTCAGGAGTTCTTGCTGGAGCGACGTGAGCTTGGACACCATTTTCCAAGGACGGAAAAAGAAGGGGGTGAGGGGGTGGGTGGGTGCGAGAGAGGAGGGTGGAGGGGAGTTTCACAAGCAAACCCCAAATCCAGGAACCCCTCCACCCTTCAGCCTCCAGACACCTGTTACTCCCCGGGGTCCCGGAGGCTCCTCCGAAAGGAGTCAGAAAACTTCTAACTTGCCATGATCGCCACCATTAGGCCATATAAGATATGCAAATTAGTGGGAAGGGCCCAGCTTTCGGCTGGATGCAAATGATGGTGGGGAGGGGGAAACCCGGAGAGAGGGAGAGCCGGAGGGGCAGACCTGGAGAGCAGAAGACCTGGGCCGGGAGCGGGGCTTTGCCAGGGTCCATTGTACTCACGCTGGGGGGCTAGAGACCTTCTTTTACTGGTTCTGCTTATCAGCCAAACTTCACCTAACCTTTGGACTTGTTAAGCCAGTGCCTTGCAGCCTAGGCGCGGGGCTTTTCCACCGGTTCTCAGTTCCGCTTTAGTCCAGAGAGAAGACACTACGCTTCGGGGTTCAGGTGAGAGCCAGAGGAAGCTGGGGTGCTCGTGGAAGAAGGGGACGCAGGAGGAAGCGAAGAGTAGAGACCCTGGATGCGTCCCGGCCGACGCAGGTGGTGGGCCAGGAGAGCCCGCAGGGCGGAAGAGAAACTGACCACTTAGGAAGGGGCGCCGAGGCCACGGGGGAGGTGAGGCAGCGTTAGGTGTGGTGAGCATGCCCTGGAGGGACTCCATTTATTTCTACCTCGGTTACTACCTCCAGGCCCCAGAACCTCCCTGGCCTGGTCTGGCGGTTTGGGTTTGCAGAACTGCCCGCCAGAGAGCGTAGGCGAGGGTGAAGGAGTCCGGGAGAACTCTTGGAAAGAGACTACTTTATGGGTAGAGGGAGTAGCCAAAGTGAAGCTCCCCCAGCAGCTGGGCTGCACCGGCGCCCAGCCTGGCCACGCCACTGGGGAGCTGGACCCCTGGGGCTCCTCACTCTCCTGTTTAAACCCGGATGTCAAGGCGCCTCCGCCTTGGGGGAGGATGGTGAGGCAGAATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCAGTGAAAGCAAAGCTTGACCTGCAGCTGGGTGGACACTTGCAGCCGAGGGTCCCCCCGGCCCACTCATTTCTGGTTTATTCGTAGTTCCAGAACATCTGTGGTTCCCTGGGCCGGGGACGAGCTCTGTAGACGAGGTCACTGCAGCAGTGGCAGAAGTCTTGCACTCCTAGTACAGAAGGTGTCGACAGAGCTACTGAGGGAAAGATGTTTTTTTTCCCACTCTGGCCTGGGCCAGGTAGGAAGCCATAGGCCTTGCAGCACTATTGGAGTTTCACCTGCTTCCCCCCTGGTGACGGGCAGGAGGGGAGGGCGGCGGAAGCGCGCCCAAACCGGCAAGCTAGGACCTGACCTGTAGAAGAACAGGGAAAGGGGCTTCTTTGCTTCCACCACACACAGACCTAAAGCTTCTGGGGAGGAGCATAACGCTTCCCTTCTGGGAGCCTCAGTTTCCTCATCTGCAAAAAGAGGATACCACTGATAACCTTTTTTTGGGGGTTGTGTATATTGACTGAGGCCACTTGTGCAACCGCTTGGTCTAATAATAAAGTTCAACACTTTCTGGTCTGAGAAGACGGGAAGCCAGTTCCCAGTAGTAAAACTGAGTTACTCTGGAAACTTAGGGTATTCAGAATTGGTGATACAGTGCTGGGGTTGGAGGGATTGGGGGACTAGGGTTTCAGAATCAGCAGAAAAATTGCAAAGGAGTTTCTAAGCACATTTTCCTTCCTCTCCCACCCTTGAAAGATATCTAGGAGGAAGTAAGGTTAGGTTAGGGATAGAGAGGAATTTCAGCAGGAGGAGGAAGAGTCTAGCAGCTCTCATCTGCCTAGGGGCAGGATCTAATCTCCTAGGTGTGCAAGGGCTGATGGTGTAATTTATCAAGTCAGGCTGTTAAGGAGCTAGGATGCCTCTTAAATACAGGGTCTGCTACAGGTGCCT
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GAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCACGTGCTGCAGTTTATGTTACGTCTCAGCTGCGGCCAGCCCGGCGCGGGGCTGGGTGCGGAGGGGCGCCCCAGGTCCTTCCAGCGCCGCGCTAGAAAGCGGGCGCCTGCGGCCGAGTGGGAGGGCCTAGGCCCTGTGGCCCCCGGTGGCCGGCGGTGGGAGCCTGGTTCATCCGCCAGGTCCTGAGCGACCTCCCCGGCAGCCCTGGCGCCCCAGCCGCTCCTAGGGGCCACTCTCTCGACCCCTCTTAGCCTCCGCGACTCACACCTTCCGCCTCGCGGAACTCTCTTGCAGGAGTTCTCTCCCGGTAGGGGAGAAATCACCTCCGGGCGGGAGAGCGACGAGGGAAGAACCTCAAACCTATGAATTATACCAAAGTGTGTTTGGGGAAAAAAAATCTACAAGTTCCCCTGATTGTTTTGGCTAGAGGGCAAACCGCCAGGCCCTCGGAGCACAAATTCAAATGCAAGGTCATATCCCACCCCAAACCGCCGCTGCGGACGTGCGGCCAAGGCTCAGCCCCGAAATCGCAGCGCTTCAGTGTCCGAAGCCACGCGATGGGCTCTGTCCTAAAGCGGAGTGGCCCGGGAGCGACGTGCTGTCTCAGGGAACCGCTCGGCTCCTTAGATAATTAGTAACCAGCTGTCAAAGTCTAGGGCGGTCGGGGAGGACCCACAAACGATCCCGGCCCTGGGGATACACTGCCAGCCGGCCTGAACTCCCGGGGAGAGGCCGGGGGTGGGCAGCGAGGTCTGGAAACGCCCTCCTTTCTCAGACTGAGACCAGATCCTCTGCGAACTGAGGTCTGAGACGCGTTCGCCCCCACACCACCGCGCTTGGTTTCTTTGGCCCCGCGCGTGTCCACCCGGACCCTGCATGGAACATGCCCTTTGCAAATCTAAACCCGCGTTGGGGATCCCGGATAATTCCGGGCCTTGCATGGGCGCGGCTAACAAGAGTGCCCACCAGGGAACTCGCCTCCCAGATCCCGGCTCCGGATGCCGCCTGTCCTTCGGCAAAGAACTGCAGGTCATCATGCAGGTCAATGTGTCCGAGGCCGACATGCGGCTTTCCAGACCCGAGGCAGGGCGCAGGAAAAATGCGCGGCCTGGGGCTTGCAGCGGCGCGAGGCTCTGCTCCCGGGAAGTCGCAGCGGTTTCACTGCACCCACTCGCACCTTCAGTCGCGTGGGCAAACCTCCCGGCAAAGGGCTCCACAGCTCCAGTTCTCCCCGGCCCAGCCCCAGCCCCGCGGGGAAAAGCCCTTGGGTCTCGGACGCTGGCCTGGGCCTGGGGAGAAGAAGCCCGGTGGGCCGCAGGGTCGTCCCGCTAAGGGATTGGGAAGGGTCCGGGTGTTGGGAGAGAAGCAGAGCGCCCCCCGGGGGACTTCTCTGGTGGGAAACGGGCTTGGCGAGTGTGGTCGGGCGCAGTGTCACTCAGGCCCGGGGCCGGGGCTCCAGGGGTTCGGGTGGGTCCCCTCCACCTCGCTCTGCGCCTACCTGAGCATCCGGTCCACCTCCGCCCGCTGCTCCGCCGCCTCCTCGGTGTTGAGCGCCTGCAGCTCCTTGAGGATGGGAGGTGTGTCATAGTCGTCGCCGTCCTCGGAGCCCTCGTCGCCGGACAAGCGGCCCTTGGCGTGGCCGTTGGTGAGAGTATGGAAGACCGGCTTGGTGTCGGGCTCGGCCCCGCTGCCAGGGGACAGGGGCAGCGTCTCCAGCTTCACCCCGAAGTTCGGGGATGGCAGCAACTCCTCCAAGGCCTGAACCAGCACCTCCTTGGTGACCCCGGAGCTCAGCAGGGCGCTCAGGAGTTCTTGCTGGAGCGACGTGAGCTTGGACACAATTTTCCAAGGACGGAAAAAGAAGGGGGTGAGGGGGTGGGTGGGTGCGAGAGAGGAGGGTGGAGGGGAGTTTCACAAGCAAACCCCAAATCCAGGAACCCCTCCACCCTTCAGCCTCCAGACACCTGTTACTCCCCGGGGTCCCGGAGGCTCCTCCGAAAGGAGTCAGAAAACTTCTAACTTGCCATGATCGCCACCATTAGGCCATATAAGATATGCAAATTAGTGGGAAGGGCCCAGCTTTCGGCTGGATGCAAATGATGGTGGGGAGGGGGAAACCCGGAGAGAGGGAGAGCCGGAGGGGCAGACCTGGAGAGCAGAAGACCTGGGCCGGGAGCGGGGCTTTGCCAGGGTCCATTGTACTCACGCTGGGGGGCTAGAGACCTTCTTTTACTGGTTCTGCTTATCAGCCAAACTTCACCTAACCTTTGGACTTGTTAAGCCAGTGCCTTGCAGCCTAGGCGCGGGGCTTTTCCACCGGTTCTCAGTTCCGCTTTAGTCCAGAGAGAAGACACTACGCTTCGGGGTTCAGGTGAGAGCCAGAGGAAGCTGGGGTGCTCGTGGAAGAAGGGGACGCAGGAGGAAGCGAAGAGTAGAGACCCTGGATGCGTCCCGGCCGACGCAGGTGGTGGGCCAGGAGAGCCCGCAGGGCGGAAGAGAAACTGACCACTTAGGAAGGGGCGCCGAGGCCACGGGGGAGGTGAGGCAGCGTTAGGTGTGGTGAGCATGCCCTGGAGGGACTCCATTTATTTCTACCTCGGTTACTACCTCCAGGCCCCAGAACCTCCCTGGCCTGGTCTGGCGGTTTGGGTTTGCAGAACTGCCCGCCAGAGAGCGTAGGCGAGGGTGAAGGAGTCCGGGAGAACTCTTGGAAAGAGACTACTTTATGGGTAGAGGGAGTAGCCAAAGTGAAGCTCCCCCAGCAGCTGGGCTGCACCGGCGCCCAGCCTGGCCACGCCACTGGGGAGCTGGACCCCTGGGGCTCCTCACTCTCCTGTTTAAACCCGGATGTCAAGGCGCCTCCGCCTTGGGGGAGGATGGTGAGGCAGAATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCAGTGAAAGCAAAGCTTGACCTGCAGCTGGGTGGACACTTGCAGCCGAGGGTCCCCCCGGCCCACTCATTTCTGGTTTATTCGTAGTTCCAGAACATCTGTGGTTCCCTGGGCCGGGGACGAGCTCTGTAGACGAGGTCACTGCAGCAGTGGCAGAAGTCTTGCACTCCTAGTACAGAAGGTGTCGACAGAGCTACTGAGGGAAAGATGTTTTTTTTCCCACTCTGGCCTGGGCCAGGTAGGAAGCCATAGGCCTTGCAGCACTATTGGAGTTTCACCTGCTTCCCCCCTGGTGACGGGCAGGAGGGGAGGGCGGCGGAAGCGCGCCCAAACCGGCAAGCTAGGACCTGACCTGTAGAAGAACAGGGAAAGGGGCTTCTTTGCTTCCACCACACACAGACCTAAAGCTTCTGGGGAGGAGCATAACGCTTCCCTTCTGGGAGCCTCAGTTTCCTCATCTGCAAAAAGAGGATACCACTGATAACCTTTTTTTGGGGGTTGTGTATATTGACTGAGGCCACTTGTGCAACCGCTTGGTCTAATAATAAAGTTCAACACTTTCTGGTCTGAGAAGACGGGAAGCCAGTTCCCAGTAGTAAAACTGAGTTACTCTGGAAACTTAGGGTATTCAGAATTGGTGATACAGTGCTGGGGTTGGAGGGATTGGGGGACTAGGGTTTCAGAATCAGCAGAAAAATTGCAAAGGAGTTTCTAAGCACATTTTCCTTCCTCTCCCACCCTTGAAAGATATCTAGGAGGAAGTAAGGTTAGGTTAGGGATAGAGAGGAATTTCAGCAGGAGGAGGAAGAGTCTAGCAGCTCTCATCTGCCTAGGGGCAGGATCTAATCTCCTAGGTGTGCAAGGGCTGATGGTGTAATTTATCAAGTCAGGCTGTTAAGGAGCTAGGATGCCTCTTAAATACAGGGTCTGCTACAGGTGCCT
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Task1_train_24210
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Here is a mutation in HNF1B (HNF1 homeobox B) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Renal cysts and diabetes syndrome
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GAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCACGTGCTGCAGTTTATGTTACGTCTCAGCTGCGGCCAGCCCGGCGCGGGGCTGGGTGCGGAGGGGCGCCCCAGGTCCTTCCAGCGCCGCGCTAGAAAGCGGGCGCCTGCGGCCGAGTGGGAGGGCCTAGGCCCTGTGGCCCCCGGTGGCCGGCGGTGGGAGCCTGGTTCATCCGCCAGGTCCTGAGCGACCTCCCCGGCAGCCCTGGCGCCCCAGCCGCTCCTAGGGGCCACTCTCTCGACCCCTCTTAGCCTCCGCGACTCACACCTTCCGCCTCGCGGAACTCTCTTGCAGGAGTTCTCTCCCGGTAGGGGAGAAATCACCTCCGGGCGGGAGAGCGACGAGGGAAGAACCTCAAACCTATGAATTATACCAAAGTGTGTTTGGGGAAAAAAAATCTACAAGTTCCCCTGATTGTTTTGGCTAGAGGGCAAACCGCCAGGCCCTCGGAGCACAAATTCAAATGCAAGGTCATATCCCACCCCAAACCGCCGCTGCGGACGTGCGGCCAAGGCTCAGCCCCGAAATCGCAGCGCTTCAGTGTCCGAAGCCACGCGATGGGCTCTGTCCTAAAGCGGAGTGGCCCGGGAGCGACGTGCTGTCTCAGGGAACCGCTCGGCTCCTTAGATAATTAGTAACCAGCTGTCAAAGTCTAGGGCGGTCGGGGAGGACCCACAAACGATCCCGGCCCTGGGGATACACTGCCAGCCGGCCTGAACTCCCGGGGAGAGGCCGGGGGTGGGCAGCGAGGTCTGGAAACGCCCTCCTTTCTCAGACTGAGACCAGATCCTCTGCGAACTGAGGTCTGAGACGCGTTCGCCCCCACACCACCGCGCTTGGTTTCTTTGGCCCCGCGCGTGTCCACCCGGACCCTGCATGGAACATGCCCTTTGCAAATCTAAACCCGCGTTGGGGATCCCGGATAATTCCGGGCCTTGCATGGGCGCGGCTAACAAGAGTGCCCACCAGGGAACTCGCCTCCCAGATCCCGGCTCCGGATGCCGCCTGTCCTTCGGCAAAGAACTGCAGGTCATCATGCAGGTCAATGTGTCCGAGGCCGACATGCGGCTTTCCAGACCCGAGGCAGGGCGCAGGAAAAATGCGCGGCCTGGGGCTTGCAGCGGCGCGAGGCTCTGCTCCCGGGAAGTCGCAGCGGTTTCACTGCACCCACTCGCACCTTCAGTCGCGTGGGCAAACCTCCCGGCAAAGGGCTCCACAGCTCCAGTTCTCCCCGGCCCAGCCCCAGCCCCGCGGGGAAAAGCCCTTGGGTCTCGGACGCTGGCCTGGGCCTGGGGAGAAGAAGCCCGGTGGGCCGCAGGGTCGTCCCGCTAAGGGATTGGGAAGGGTCCGGGTGTTGGGAGAGAAGCAGAGCGCCCCCCGGGGGACTTCTCTGGTGGGAAACGGGCTTGGCGAGTGTGGTCGGGCGCAGTGTCACTCAGGCCCGGGGCCGGGGCTCCAGGGGTTCGGGTGGGTCCCCTCCACCTCGCTCTGCGCCTACCTGAGCATCCGGTCCACCTCCGCCCGCTGCTCCGCCGCCTCCTCGGTGTTGAGCGCCTGCAGCTCCTTGAGGATGGGAGGTGTGTCATAGTCGTCGCCGTCCTCGGAGCCCTCGTCGCCGGACAAGCGGCCCTTGGCGTGGCCGTTGGTGAGAGTATGGAAGACCGGCTTGGTGTCGGGCTCGGCCCCGCTGCCAGGGGACAGGGGCAGCGTCTCCAGCTTCACCCCGAAGTTCGGGGATGGCAGCAACTCCTCCAAGGCCTGAACCAGCACCTCCTTGGTGACCCCGGAGCTCAGCAGGGCGCTCAGGAGTTCTTGCTGGAGCGACGTGAGCTTGGACACCATTTTCCAAGGACGGAAAAAGAAGGGGGTGAGGGGGTGGGTGGGTGCGAGAGAGGAGGGTGGAGGGGAGTTTCACAAGCAAACCCCAAATCCAGGAACCCCTCCACCCTTCAGCCTCCAGACACCTGTTACTCCCCGGGGTCCCGGAGGCTCCTCCGAAAGGAGTCAGAAAACTTCTAACTTGCCATGATCGCCACCATTAGGCCATATAAGATATGCAAATTAGTGGGAAGGGCCCAGCTTTCGGCTGGATGCAAATGATGGTGGGGAGGGGGAAACCCGGAGAGAGGGAGAGCCGGAGGGGCAGACCTGGAGAGCAGAAGACCTGGGCCGGGAGCGGGGCTTTGCCAGGGTCCATTGTACTCACGCTGGGGGGCTAGAGACCTTCTTTTACTGGTTCTGCTTATCAGCCAAACTTCACCTAACCTTTGGACTTGTTAAGCCAGTGCCTTGCAGCCTAGGCGCGGGGCTTTTCCACCGGTTCTCAGTTCCGCTTTAGTCCAGAGAGAAGACACTACGCTTCGGGGTTCAGGTGAGAGCCAGAGGAAGCTGGGGTGCTCGTGGAAGAAGGGGACGCAGGAGGAAGCGAAGAGTAGAGACCCTGGATGCGTCCCGGCCGACGCAGGTGGTGGGCCAGGAGAGCCCGCAGGGCGGAAGAGAAACTGACCACTTAGGAAGGGGCGCCGAGGCCACGGGGGAGGTGAGGCAGCGTTAGGTGTGGTGAGCATGCCCTGGAGGGACTCCATTTATTTCTACCTCGGTTACTACCTCCAGGCCCCAGAACCTCCCTGGCCTGGTCTGGCGGTTTGGGTTTGCAGAACTGCCCGCCAGAGAGCGTAGGCGAGGGTGAAGGAGTCCGGGAGAACTCTTGGAAAGAGACTACTTTATGGGTAGAGGGAGTAGCCAAAGTGAAGCTCCCCCAGCAGCTGGGCTGCACCGGCGCCCAGCCTGGCCACGCCACTGGGGAGCTGGACCCCTGGGGCTCCTCACTCTCCTGTTTAAACCCGGATGTCAAGGCGCCTCCGCCTTGGGGGAGGATGGTGAGGCAGAATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCAGTGAAAGCAAAGCTTGACCTGCAGCTGGGTGGACACTTGCAGCCGAGGGTCCCCCCGGCCCACTCATTTCTGGTTTATTCGTAGTTCCAGAACATCTGTGGTTCCCTGGGCCGGGGACGAGCTCTGTAGACGAGGTCACTGCAGCAGTGGCAGAAGTCTTGCACTCCTAGTACAGAAGGTGTCGACAGAGCTACTGAGGGAAAGATGTTTTTTTTCCCACTCTGGCCTGGGCCAGGTAGGAAGCCATAGGCCTTGCAGCACTATTGGAGTTTCACCTGCTTCCCCCCTGGTGACGGGCAGGAGGGGAGGGCGGCGGAAGCGCGCCCAAACCGGCAAGCTAGGACCTGACCTGTAGAAGAACAGGGAAAGGGGCTTCTTTGCTTCCACCACACACAGACCTAAAGCTTCTGGGGAGGAGCATAACGCTTCCCTTCTGGGAGCCTCAGTTTCCTCATCTGCAAAAAGAGGATACCACTGATAACCTTTTTTTGGGGGTTGTGTATATTGACTGAGGCCACTTGTGCAACCGCTTGGTCTAATAATAAAGTTCAACACTTTCTGGTCTGAGAAGACGGGAAGCCAGTTCCCAGTAGTAAAACTGAGTTACTCTGGAAACTTAGGGTATTCAGAATTGGTGATACAGTGCTGGGGTTGGAGGGATTGGGGGACTAGGGTTTCAGAATCAGCAGAAAAATTGCAAAGGAGTTTCTAAGCACATTTTCCTTCCTCTCCCACCCTTGAAAGATATCTAGGAGGAAGTAAGGTTAGGTTAGGGATAGAGAGGAATTTCAGCAGGAGGAGGAAGAGTCTAGCAGCTCTCATCTGCCTAGGGGCAGGATCTAATCTCCTAGGTGTGCAAGGGCTGATGGTGTAATTTATCAAGTCAGGCTGTTAAGGAGCTAGGATGCCTCTTAAATACAGGGTCTGCTACAGGTGCCT
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GAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCACGTGCTGCAGTTTATGTTACGTCTCAGCTGCGGCCAGCCCGGCGCGGGGCTGGGTGCGGAGGGGCGCCCCAGGTCCTTCCAGCGCCGCGCTAGAAAGCGGGCGCCTGCGGCCGAGTGGGAGGGCCTAGGCCCTGTGGCCCCCGGTGGCCGGCGGTGGGAGCCTGGTTCATCCGCCAGGTCCTGAGCGACCTCCCCGGCAGCCCTGGCGCCCCAGCCGCTCCTAGGGGCCACTCTCTCGACCCCTCTTAGCCTCCGCGACTCACACCTTCCGCCTCGCGGAACTCTCTTGCAGGAGTTCTCTCCCGGTAGGGGAGAAATCACCTCCGGGCGGGAGAGCGACGAGGGAAGAACCTCAAACCTATGAATTATACCAAAGTGTGTTTGGGGAAAAAAAATCTACAAGTTCCCCTGATTGTTTTGGCTAGAGGGCAAACCGCCAGGCCCTCGGAGCACAAATTCAAATGCAAGGTCATATCCCACCCCAAACCGCCGCTGCGGACGTGCGGCCAAGGCTCAGCCCCGAAATCGCAGCGCTTCAGTGTCCGAAGCCACGCGATGGGCTCTGTCCTAAAGCGGAGTGGCCCGGGAGCGACGTGCTGTCTCAGGGAACCGCTCGGCTCCTTAGATAATTAGTAACCAGCTGTCAAAGTCTAGGGCGGTCGGGGAGGACCCACAAACGATCCCGGCCCTGGGGATACACTGCCAGCCGGCCTGAACTCCCGGGGAGAGGCCGGGGGTGGGCAGCGAGGTCTGGAAACGCCCTCCTTTCTCAGACTGAGACCAGATCCTCTGCGAACTGAGGTCTGAGACGCGTTCGCCCCCACACCACCGCGCTTGGTTTCTTTGGCCCCGCGCGTGTCCACCCGGACCCTGCATGGAACATGCCCTTTGCAAATCTAAACCCGCGTTGGGGATCCCGGATAATTCCGGGCCTTGCATGGGCGCGGCTAACAAGAGTGCCCACCAGGGAACTCGCCTCCCAGATCCCGGCTCCGGATGCCGCCTGTCCTTCGGCAAAGAACTGCAGGTCATCATGCAGGTCAATGTGTCCGAGGCCGACATGCGGCTTTCCAGACCCGAGGCAGGGCGCAGGAAAAATGCGCGGCCTGGGGCTTGCAGCGGCGCGAGGCTCTGCTCCCGGGAAGTCGCAGCGGTTTCACTGCACCCACTCGCACCTTCAGTCGCGTGGGCAAACCTCCCGGCAAAGGGCTCCACAGCTCCAGTTCTCCCCGGCCCAGCCCCAGCCCCGCGGGGAAAAGCCCTTGGGTCTCGGACGCTGGCCTGGGCCTGGGGAGAAGAAGCCCGGTGGGCCGCAGGGTCGTCCCGCTAAGGGATTGGGAAGGGTCCGGGTGTTGGGAGAGAAGCAGAGCGCCCCCCGGGGGACTTCTCTGGTGGGAAACGGGCTTGGCGAGTGTGGTCGGGCGCAGTGTCACTCAGGCCCGGGGCCGGGGCTCCAGGGGTTCGGGTGGGTCCCCTCCACCTCGCTCTGCGCCTACCTGAGCATCCGGTCCACCTCCGCCCGCTGCTCCGCCGCCTCCTCGGTGTTGAGCGCCTGCAGCTCCTTGAGGATGGGAGGTGTGTCATAGTCGTCGCCGTCCTCGGAGCCCTCGTCGCCGGACAAGCGGCCCTTGGCGTGGCCGTTGGTGAGAGTATGGAAGACCGGCTTGGTGTCGGGCTCGGCCCCGCTGCCAGGGGACAGGGGCAGCGTCTCCAGCTTCACCCCGAAGTTCGGGGATGGCAGCAACTCCTCCAAGGCCTGAACCAGCACCTCCTTGGTGACCCCGGAGCTCAGCAGGGCGCTCAGGAGTTCTTGCTGGAGCGACGTGAGCTTGGACACTATTTTCCAAGGACGGAAAAAGAAGGGGGTGAGGGGGTGGGTGGGTGCGAGAGAGGAGGGTGGAGGGGAGTTTCACAAGCAAACCCCAAATCCAGGAACCCCTCCACCCTTCAGCCTCCAGACACCTGTTACTCCCCGGGGTCCCGGAGGCTCCTCCGAAAGGAGTCAGAAAACTTCTAACTTGCCATGATCGCCACCATTAGGCCATATAAGATATGCAAATTAGTGGGAAGGGCCCAGCTTTCGGCTGGATGCAAATGATGGTGGGGAGGGGGAAACCCGGAGAGAGGGAGAGCCGGAGGGGCAGACCTGGAGAGCAGAAGACCTGGGCCGGGAGCGGGGCTTTGCCAGGGTCCATTGTACTCACGCTGGGGGGCTAGAGACCTTCTTTTACTGGTTCTGCTTATCAGCCAAACTTCACCTAACCTTTGGACTTGTTAAGCCAGTGCCTTGCAGCCTAGGCGCGGGGCTTTTCCACCGGTTCTCAGTTCCGCTTTAGTCCAGAGAGAAGACACTACGCTTCGGGGTTCAGGTGAGAGCCAGAGGAAGCTGGGGTGCTCGTGGAAGAAGGGGACGCAGGAGGAAGCGAAGAGTAGAGACCCTGGATGCGTCCCGGCCGACGCAGGTGGTGGGCCAGGAGAGCCCGCAGGGCGGAAGAGAAACTGACCACTTAGGAAGGGGCGCCGAGGCCACGGGGGAGGTGAGGCAGCGTTAGGTGTGGTGAGCATGCCCTGGAGGGACTCCATTTATTTCTACCTCGGTTACTACCTCCAGGCCCCAGAACCTCCCTGGCCTGGTCTGGCGGTTTGGGTTTGCAGAACTGCCCGCCAGAGAGCGTAGGCGAGGGTGAAGGAGTCCGGGAGAACTCTTGGAAAGAGACTACTTTATGGGTAGAGGGAGTAGCCAAAGTGAAGCTCCCCCAGCAGCTGGGCTGCACCGGCGCCCAGCCTGGCCACGCCACTGGGGAGCTGGACCCCTGGGGCTCCTCACTCTCCTGTTTAAACCCGGATGTCAAGGCGCCTCCGCCTTGGGGGAGGATGGTGAGGCAGAATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCACTAGGATGGTGAGGCAGTGAAAGCAAAGCTTGACCTGCAGCTGGGTGGACACTTGCAGCCGAGGGTCCCCCCGGCCCACTCATTTCTGGTTTATTCGTAGTTCCAGAACATCTGTGGTTCCCTGGGCCGGGGACGAGCTCTGTAGACGAGGTCACTGCAGCAGTGGCAGAAGTCTTGCACTCCTAGTACAGAAGGTGTCGACAGAGCTACTGAGGGAAAGATGTTTTTTTTCCCACTCTGGCCTGGGCCAGGTAGGAAGCCATAGGCCTTGCAGCACTATTGGAGTTTCACCTGCTTCCCCCCTGGTGACGGGCAGGAGGGGAGGGCGGCGGAAGCGCGCCCAAACCGGCAAGCTAGGACCTGACCTGTAGAAGAACAGGGAAAGGGGCTTCTTTGCTTCCACCACACACAGACCTAAAGCTTCTGGGGAGGAGCATAACGCTTCCCTTCTGGGAGCCTCAGTTTCCTCATCTGCAAAAAGAGGATACCACTGATAACCTTTTTTTGGGGGTTGTGTATATTGACTGAGGCCACTTGTGCAACCGCTTGGTCTAATAATAAAGTTCAACACTTTCTGGTCTGAGAAGACGGGAAGCCAGTTCCCAGTAGTAAAACTGAGTTACTCTGGAAACTTAGGGTATTCAGAATTGGTGATACAGTGCTGGGGTTGGAGGGATTGGGGGACTAGGGTTTCAGAATCAGCAGAAAAATTGCAAAGGAGTTTCTAAGCACATTTTCCTTCCTCTCCCACCCTTGAAAGATATCTAGGAGGAAGTAAGGTTAGGTTAGGGATAGAGAGGAATTTCAGCAGGAGGAGGAAGAGTCTAGCAGCTCTCATCTGCCTAGGGGCAGGATCTAATCTCCTAGGTGTGCAAGGGCTGATGGTGTAATTTATCAAGTCAGGCTGTTAAGGAGCTAGGATGCCTCTTAAATACAGGGTCTGCTACAGGTGCCT
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Task1_train_24211
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The following genetic variant occurs in GPR179 (G protein-coupled receptor 179) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Congenital stationary night blindness 1E
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CAGGTGTAAATGATGGAACGGGGCTTTAGAAGTCTTCTGTTCTGGGTTTCTCCCCAGATCCAGCATAGGGGCCGCAGATTGGCTTGTGTTCCAGAAAGTGGAGGGTCAGGGGTGGAGCTGCCCCTCCATACTCCCTGGCCCTTCAGCTGGATTGGGGTCTCAGGAGGCAGGGCAGGCAGAGCTCAGAGGGTGAGGACACAAGGGGGAAACGGGCAGAGGCACTGGAACAAGGAAGGACTCAGGAGATGCAGAGGACTCTGCTTTGTGGGCCTGTAAACAAGTCAGGTGTGAAGACGGCCCCAGTAGAGGTGGAGGGGGTGGACAGAATGGCTTCCCATGATGGTTCCTAGACTCTGGATTGTATAAAACAATGGGCTTAGATTATCAGCTCTCCTTGTATCTTACCCACTGAGCCTCTTGTTAGGGTTCTGGTGACTATAATGATCCCCTTGAGCACAGAAATGAGAATAAGCATGCTTTTCCAGTGTAGACCCAGGAAGAACTTCCTCTAAGACCTGCCAGGTCCAGGGAAAGGGGATCCTGGTGGCTACTCACTGCCTGAACTACCCAGCCCCACAGCTGGCCCTAGGCTGGCCCTAGGTGCCCTAGGCACCAACCATCCTGCTTTGCTGGGGGCTGAGGCTTTTTTGTGTGTGTGTGTCAGAATCTTACTCTTTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCAACTTACCAGGCTCCAGTGATCCTCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGACATGTACCACCATGCCTGGCTAATTTTTGTATTTCTAGTAGAGACGAGATTTCGCCATTTGGCCAGGCTGGTCAAACTCCTGGCCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAACCACTGTGCCCAGCCAGCTGAGGGGTTTCTTAGACTGCCCCCGACCTGATGCCCCTGCTGAGTGAGAGTGGAGGATGCGAAGGAGTAGGGCTCCACTCTCGGCCCTGCCTCTAGCTTGCCACATGGCCTGAGCCTCCGGGATCTGGTTCTGGGGCTTTGGGGTCTTCCCACTTGGGTGTGTGTGGCCTCCTTTGAATAGAGTCAGGGGAATCAGTTTAGGCCAGTGGAGAAGGGAGAGGGCAGGTCTTGGAGGGAAGAGGACTTGCAGTGGCACATAGCCCAGGTGGCAGGGCCCAGTCCTCCCTCTGCCCAGTTCCTAAAAGCTAGCATTGAAAGGAGGCAGGGAGGGTGGCACATACCCGAATGTCTCCAGGGTCCAGGCTGTGCTCACTCCAGGCTGAGGCGATGCTGCTGCCAAGGTAGGAGCCTGAGTGCTGCAGGTCCAGCTCGTCCTCACACACCTCATCCACCATCTCCTCCCGGGGAGGAGCCCCCAGCTTCCAGAACTGGCAGGGGTGCATAAGAGTGGGAAAAAGACTCGCCCTGGCTCCTTGTCCACTCCTGCACTCACCTGCCCTGTGGAATGCGTCCTTACTTTGTGACGCTTCACCCCCTTCTCTGACTTGGAATTCTGGGGATCTTTAGAGTTTTACTCCCCTCATCCTCCCTGACCTTCTCTAGCTCAGACAGCAGGGTGGTTCTAAGCCCCTGACCCTGCAATTCCTAGCCGGGTCCTTCAGCTCTCCCACCTCTCCCTGTATACCTGCTTCTGAGTAGATTTTCAGAGTGTGCCAACCTTCCAGCTGCAGGAGGGAGCCCCTCCAGCCCTGGGTTTTCTTTCCCTTGCCCAGGAACTGGAAGCAGAGAGTGTCCCCACTCAAGTCAGCTCCTAGCTTAGGGCCCCTGGCACTGTGCTCACTCACCCAGCACCTTCTGTCGTCCTCACCCTGGCCTGCAGAGGGCGCTGCGGGACAACCGCTCCACAGTGGCCCTGACAGAGGGGCTGGGGTCCACCTCACAGGCAGGAGGGGAGGGCCTCACCTTAGGGATGAAGATCAGAGCCAGCGTGGTGGTGACTGTGCTGTGGGTGTGGAAGAAGAAGAGGAGGAGGGTCCAGTCCGGGTGCAGAGAGGGAACCAGCACAAACCTGGGGCGGGATAGGGGCGCAGGTCATTACTGCAGGCAGGAGTTGCCTCTTCTGCTTTGCCTTCTCACTGGCGTTTCACCTCAGCCCCAACCCTGATACGCTTAGGACGAGGGGGCATTCTGCCCTCTCCTGCCCTCTCCAGGATTTAGGTCCCACTTCAATCCTGTTAATCCCAACCTCCAAGACGCCCTCCCAGAATACTCCAGCTCACTTTCTTTGGCTGTGTATAGCACAGACCTGTGCTCCAGACTCTTAGGCCCACTCTGTGGGTTAACTCTGCCTCCACCACAGGGTCTGGTCGTTATGGACAAACAGCAGCCTGCTGCTCTTATGGCTGAGGAGTGAGGGGAGAAGGCAGGGAGGACTGAGCATGTGTGGAAAGGGGTATGTTGGGGTGCTGGAGAGGTGCTTTGGGAGGGGTGAGGAGTTAGGAGGAAGGTCCTCTTCCTCCTCTTCTGTGTTGGGGGCCTCCTCACCTGGGCCAGGCATGGAGTACAGAAGGGGCATCTGGGGGGTAGGGAGAGAGCCAGAAGTGGGGGCCTTCGTCAACGTGCTGAGGCGTAGCAGTGTTGCCAGGATGGCATGGGATGGGGGCACCTCACCTGGGAGAGGTGAGGAGTACTGTTAGAGTGGAAGGGGGTGTGGGGAGGTGAGTCCGTCCTCACCTGGCTGTGTGGAAGGCAGCGGAAAGCAGTAGCTCATTGTGCAGGGCGATGCCCATGTAGCGTGGCTCATGGAAGGCCGAGAGCACAGCCCGTGTGGCGTAGCAGAGGAAGCTGCCCCAGCACAGCAGCAGCAGCTCAGCTGTGGGGAGACAGGGAGGGAGAGAGCCGGCACCACCTCAGCAGCTGTCCCACCCCTTTCTCTGAAAGATGTGCTGGGGGGAGCCTGGGCTCGGGGTCTGGGGACAAGTCAGGAGAACCAGAACAAGAGGAACCCTGGAGGCACAGAGGCAGGGACCAGCGTAAGGCTGGGCTCAGCAGAAGCAGCTCACCCACAACCATGATGTAGTCCCAGCGGTCGTGGTGACAGAGGTAGAAATGGCGGCCACTGGGAGTGTGGCCTCGGATCACCAGAGGTGCGTGCTGGATGCCTCGCTCCAGGGCGCCCACGGTCCACACAGCCAGGAAGCCCAGCACAGGTAGCAGGAGCAGCCCCAGGTGCCGCAGCAGCCGCCCGCTGCTCAGAAGGGCACTCCGCTGGGCCGTTCGAGACAGAAACAGCTGCAGCACTCTGCGAGGGTTAGAATACACAGGGTGGATGGCAGGGACCTGGGTGGATCACGAAGAGGGTGCCAGCGCCCTGGTCTCTGTCCATTGCTGCCCTCTCCTCCACACAGGTACTTGTCCTTCCATCCTTTTTGTGATTTGCTGCCTTTTGCTACCCCCCCACAAAGTAACATGGAAGACAAGGCTATGGTGATGGGGGTTGGCCTTGGGGGTAGAGGGGAGTGGGGCTGGCAAGGGTCTGGCTTTGAAAAACACCATTCCATGAGTGAGCTGGGGTGGTCTGGGATGAGCAGCATGAGAGCAAAGTCTGCCCCAGGCCGTACCTGTAAAGCTTGAGTATGATGGTGCCGTAGACGATGGCAAAACCCAGCAGCCGCACCCAGCGAAGAGCGATGCAGCGGAATACACTGGGCTTGAAGTATAGGATGAAGACCTGGTGGGAAGGGGCAAAAATCTCTGCTCTCTACTATGCTTCTGCTGTGGGCCAGGCCTATGCTAAGCACACTGTGGATCCTCCCAACAGCCCTGCAATAGAGCCATCACCACCTTCATTCTGCAGAGGAGCAGCTGAAGTGTCAAAGAAGTTAGGTAACTTGCCCTAAATCACACTGCAAGTCACAGAGCTCCTAATAAGCCTGAGGCTCCAGAGCTCATAGACCAGCTTGCCATTTGTGGGTAAGAGTAGGGGAAATCTGTGGTCTCTGAATCCCTTCCAGAGGGCAGAGAAGGGTTCTGGGGCTTGGAGGGTGCCAGGTTTTGGCTATGGGGGATGCTGGAAGGTGGGGCCAGCCTGTGG
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CAGGTGTAAATGATGGAACGGGGCTTTAGAAGTCTTCTGTTCTGGGTTTCTCCCCAGATCCAGCATAGGGGCCGCAGATTGGCTTGTGTTCCAGAAAGTGGAGGGTCAGGGGTGGAGCTGCCCCTCCATACTCCCTGGCCCTTCAGCTGGATTGGGGTCTCAGGAGGCAGGGCAGGCAGAGCTCAGAGGGTGAGGACACAAGGGGGAAACGGGCAGAGGCACTGGAACAAGGAAGGACTCAGGAGATGCAGAGGACTCTGCTTTGTGGGCCTGTAAACAAGTCAGGTGTGAAGACGGCCCCAGTAGAGGTGGAGGGGGTGGACAGAATGGCTTCCCATGATGGTTCCTAGACTCTGGATTGTATAAAACAATGGGCTTAGATTATCAGCTCTCCTTGTATCTTACCCACTGAGCCTCTTGTTAGGGTTCTGGTGACTATAATGATCCCCTTGAGCACAGAAATGAGAATAAGCATGCTTTTCCAGTGTAGACCCAGGAAGAACTTCCTCTAAGACCTGCCAGGTCCAGGGAAAGGGGATCCTGGTGGCTACTCACTGCCTGAACTACCCAGCCCCACAGCTGGCCCTAGGCTGGCCCTAGGTGCCCTAGGCACCAACCATCCTGCTTTGCTGGGGGCTGAGGCTTTTTTGTGTGTGTGTGTCAGAATCTTACTCTTTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCAACTTACCAGGCTCCAGTGATCCTCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGACATGTACCACCATGCCTGGCTAATTTTTGTATTTCTAGTAGAGACGAGATTTCGCCATTTGGCCAGGCTGGTCAAACTCCTGGCCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAACCACTGTGCCCAGCCAGCTGAGGGGTTTCTTAGACTGCCCCCGACCTGATGCCCCTGCTGAGTGAGAGTGGAGGATGCGAAGGAGTAGGGCTCCACTCTCGGCCCTGCCTCTAGCTTGCCACATGGCCTGAGCCTCCGGGATCTGGTTCTGGGGCTTTGGGGTCTTCCCACTTGGGTGTGTGTGGCCTCCTTTGAATAGAGTCAGGGGAATCAGTTTAGGCCAGTGGAGAAGGGAGAGGGCAGGTCTTGGAGGGAAGAGGACTTGCAGTGGCACATAGCCCAGGTGGCAGGGCCCAGTCCTCCCTCTGCCCAGTTCCTAAAAGCTAGCATTGAAAGGAGGCAGGGAGGGTGGCACATACCCGAATGTCTCCAGGGTCCAGGCTGTGCTCACTCCAGGCTGAGGCGATGCTGCTGCCAAGGTAGGAGCCTGAGTGCTGCAGGTCCAGCTCGTCCTCACACACCTCATCCACCATCTCCTCCCGGGGAGGAGCCCCCAGCTTCCAGAACTGGCAGGGGTGCATAAGAGTGGGAAAAAGACTCGCCCTGGCTCCTTGTCCACTCCTGCACTCACCTGCCCTGTGGAATGCGTCCTTACTTTGTGACGCTTCACCCCCTTCTCTGACTTGGAATTCTGGGGATCTTTAGAGTTTTACTCCCCTCATCCTCCCTGACCTTCTCTAGCTCAGACAGCAGGGTGGTTCTAAGCCCCTGACCCTGCAATTCCTAGCCGGGTCCTTCAGCTCTCCCACCTCTCCCTGTATACCTGCTTCTGAGTAGATTTTCAGAGTGTGCCAACCTTCCAGCTGCAGGAGGGAGCCCCTCCAGCCCTGGGTTTTCTTTCCCTTGCCCAGGAACTGGAAGCAGAGAGTGTCCCCACTCAAGTCAGCTCCTAGCTTAGGGCCCCTGGCACTGTGCTCACTCACCCAGCACCTTCTGTCGTCCTCACCCTGGCCTGCAGAGGGCGCTGCGGGACAACCGCTCCACAGTGGCCCTGACAGAGGGGCTGGGGTCCACCTCACAGGCAGGAGGGGAGGGCCTCACCTTAGGGATGAAGATCAGAGCCAGCGTGGTGGTGACTGTGCTGTGGGTGTGGAAGAAGAAGAGGAGGAGGGTCCAGTCCGGGTACAGAGAGGGAACCAGCACAAACCTGGGGCGGGATAGGGGCGCAGGTCATTACTGCAGGCAGGAGTTGCCTCTTCTGCTTTGCCTTCTCACTGGCGTTTCACCTCAGCCCCAACCCTGATACGCTTAGGACGAGGGGGCATTCTGCCCTCTCCTGCCCTCTCCAGGATTTAGGTCCCACTTCAATCCTGTTAATCCCAACCTCCAAGACGCCCTCCCAGAATACTCCAGCTCACTTTCTTTGGCTGTGTATAGCACAGACCTGTGCTCCAGACTCTTAGGCCCACTCTGTGGGTTAACTCTGCCTCCACCACAGGGTCTGGTCGTTATGGACAAACAGCAGCCTGCTGCTCTTATGGCTGAGGAGTGAGGGGAGAAGGCAGGGAGGACTGAGCATGTGTGGAAAGGGGTATGTTGGGGTGCTGGAGAGGTGCTTTGGGAGGGGTGAGGAGTTAGGAGGAAGGTCCTCTTCCTCCTCTTCTGTGTTGGGGGCCTCCTCACCTGGGCCAGGCATGGAGTACAGAAGGGGCATCTGGGGGGTAGGGAGAGAGCCAGAAGTGGGGGCCTTCGTCAACGTGCTGAGGCGTAGCAGTGTTGCCAGGATGGCATGGGATGGGGGCACCTCACCTGGGAGAGGTGAGGAGTACTGTTAGAGTGGAAGGGGGTGTGGGGAGGTGAGTCCGTCCTCACCTGGCTGTGTGGAAGGCAGCGGAAAGCAGTAGCTCATTGTGCAGGGCGATGCCCATGTAGCGTGGCTCATGGAAGGCCGAGAGCACAGCCCGTGTGGCGTAGCAGAGGAAGCTGCCCCAGCACAGCAGCAGCAGCTCAGCTGTGGGGAGACAGGGAGGGAGAGAGCCGGCACCACCTCAGCAGCTGTCCCACCCCTTTCTCTGAAAGATGTGCTGGGGGGAGCCTGGGCTCGGGGTCTGGGGACAAGTCAGGAGAACCAGAACAAGAGGAACCCTGGAGGCACAGAGGCAGGGACCAGCGTAAGGCTGGGCTCAGCAGAAGCAGCTCACCCACAACCATGATGTAGTCCCAGCGGTCGTGGTGACAGAGGTAGAAATGGCGGCCACTGGGAGTGTGGCCTCGGATCACCAGAGGTGCGTGCTGGATGCCTCGCTCCAGGGCGCCCACGGTCCACACAGCCAGGAAGCCCAGCACAGGTAGCAGGAGCAGCCCCAGGTGCCGCAGCAGCCGCCCGCTGCTCAGAAGGGCACTCCGCTGGGCCGTTCGAGACAGAAACAGCTGCAGCACTCTGCGAGGGTTAGAATACACAGGGTGGATGGCAGGGACCTGGGTGGATCACGAAGAGGGTGCCAGCGCCCTGGTCTCTGTCCATTGCTGCCCTCTCCTCCACACAGGTACTTGTCCTTCCATCCTTTTTGTGATTTGCTGCCTTTTGCTACCCCCCCACAAAGTAACATGGAAGACAAGGCTATGGTGATGGGGGTTGGCCTTGGGGGTAGAGGGGAGTGGGGCTGGCAAGGGTCTGGCTTTGAAAAACACCATTCCATGAGTGAGCTGGGGTGGTCTGGGATGAGCAGCATGAGAGCAAAGTCTGCCCCAGGCCGTACCTGTAAAGCTTGAGTATGATGGTGCCGTAGACGATGGCAAAACCCAGCAGCCGCACCCAGCGAAGAGCGATGCAGCGGAATACACTGGGCTTGAAGTATAGGATGAAGACCTGGTGGGAAGGGGCAAAAATCTCTGCTCTCTACTATGCTTCTGCTGTGGGCCAGGCCTATGCTAAGCACACTGTGGATCCTCCCAACAGCCCTGCAATAGAGCCATCACCACCTTCATTCTGCAGAGGAGCAGCTGAAGTGTCAAAGAAGTTAGGTAACTTGCCCTAAATCACACTGCAAGTCACAGAGCTCCTAATAAGCCTGAGGCTCCAGAGCTCATAGACCAGCTTGCCATTTGTGGGTAAGAGTAGGGGAAATCTGTGGTCTCTGAATCCCTTCCAGAGGGCAGAGAAGGGTTCTGGGGCTTGGAGGGTGCCAGGTTTTGGCTATGGGGGATGCTGGAAGGTGGGGCCAGCCTGTGG
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Task1_train_24212
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A genetic alteration is present in NEUROD2 (neuronal differentiation 2) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Developmental and epileptic encephalopathy, 72
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GTGGGGCTGCCCCCAGGTCTCCATCCCCACCCCTCACCCCAGGAGGGGACAGAATGGCCGCGGGGAGGAGGAGCCGGCGAGCTCACCTCCTTCTGCCCCCCGGACGCCGGCGCCGGGCCTGCTTGTGCGTGCGGTGTGGTGTGCGTGTGTCTTTCATGCAAACCCTCCCTCCCCAAACCGACCCCCCAACAGTTTGCCATTCCATACAAATTTGGAAACAGGTTTTTAAAAAACAGCATGACGCACAACGGGGACGGGGCGGGGGAGGGCAGTGGCACTGGGGCCCCAAATCTCCGAGTCACTGATTGTAAGAACCTGGGGAGGGGGAGGGGGCGGCGCGGGCCCCCACTTCACCAAAGTGCACAGATCCGCGCTCGGGCGGGGCGGCCCGCAGGCCGGGCGGGGCATCCCGGGGCCGGGCCGGGCCGCGAGGCTCAGTGGAGCCTCCTTGCATAGATATTTGTGTCTTTGATTATTGGTAGTAGTGGTTTTTTTTTGTTTGTTTTTTTGTTTTTTGTTTTTTTTGCCTTTTATTGCTTCTAAAAGTCCTTACTGCGTTTTCTCTCCGATCCGGACTCTGCGTTCGGCTTCCGTCGCCTCTTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTATGTTTGTTTGTTTAAAAAAAGGAAAAGGGAAAAACGGATTCTAGTTACAAATTGTCTTGGCCTCTCTCTTTCCTCTCAATCCACTTCCCCTCCCGCCAAAATTAAAATCGCAAAACGCGGAGACTGGAGGTTGGGGGTGAGGGCGTTCCAGGCCCGGGCTCCGGCGCCCTAACTTCTACCCTCTTCAAGAAAGAGGGAGCGCCTGGCTCCTTTTTGCCTCGGCAGCTGGGTGTCTGTTTTTAAAATAATAATGAGAGGGGGAAACGCGTTCCATTGCTCAGCTGCCCCCTTACCAACGCCTTGGGCCTGCAGGGAGGAGGGGGAGGAGGAAACCTCAGCGAAGATATTGGGAATGGGGGAGGGGTGCCTCCAGGGAGCCCCCGGAGAGAGGTCCCTGGAGAAGCACTCCTTGGGAGAGAGGAGGAGGGAACCCCTTGGGGAGAGAGAAGGCGAGTCCCCTGGGGGAAGCGAGGCCCCTGGGACAGGCCACCCACAGGTAACAGGACTGCGCTGCCCCAGGAGAGCGGCAGGACCGGTGGCCCGCTCCCCGCGCCCGGCGCCGGGGTAGGATGGGGGTGTCCCTGCGCTCTGGGGGCTGGGGACAGGGGGGCGGGCAAAGGCAAAAGAAAAAGAAGGGAGCCGGCGCGAAGTCTCAGTTATGAAAAAACGCATTGAGCTCCTCGTACATGGGGCCCCGGTCGTGGTGAAGGTGCATATCGTAAGACAAGAGATTCTCCGAGTGGACGCCCCCGCGCACAGCCGACGAGCCGAAGACTAGCCCGTGGCCCGTGGGCCGCGAACCGGGCAGCGCCGAGTAGTGCATAGAGTAGTGGTAGCTTTTCTCGTGGTCGGGCGAGGAGTCCTGCTTGAGTGAGAAGTTGCCATTGAGACAGAGCGGGGGGCTGAGCGGGCCCTCGTACTCGGAGCTGTTGTAGTCCGGGCTCGCGCCGCCACCGCCTGCCGCCGCATACAGCGTCTCGTAGGCGGCGCAGTAGCCGTGGGTCCGCAGGGCGTGCGCCGCGCCGCCGCCCAGGCCGCCGGCCGCCTGGCACTGTGCGCCCGCCAGGCGCGAGCACGGGTACGGGTAGGGGTGCATGGCGAACGGGCCGCCCGAGCCGTGGAAGCGGCCGGCACCGTCGGCGCCTTGCTCCGTGAGGAAGTTGCGAGAGTTGAGCTGCAGACAGCCGGCCACCAGATTGGTGGTGGGCTGCGACAGACCCTTGCACAGAGTCTGCACGTAGGACACTAGGTCTGGCCGCTTGCCGGAGCGCAGGATCTCCGAGAGCGCCCAGATATAGTTCTTGGCTAGGCGCAGCGTCTCGATCTTGGACAGCTTCTGCGTCTTGGAGTAGCAGGGCACCACCTTGCGCAGGTTGTCCAGGGCTGCGTTCAGGTCGTGCATGCGGTTGCGCTCCCGCGCGTTCGCCTTCTGCCGCCGAAGCTTGGAGCGCTCCAAGCGCGCCTTGGTCATCTTGCGCTTCTTGGGCCCGCGCTTCTTGGGCCGCTCGCCCTCCGCCTCGTCCAGTCCTTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTCCCCCCAGCTCGCCTTCCTCCTTGACCTCGGCCAACGTGGCCTCCGTCCCCTCTTCTCCACGGAGAGGGACTGGCTTGGCCGCCCGGGCTGGCCCCGGAGCCCCTGGCCCGGGCGCAGGCGGTGGCGGTGGCGGCGCGTCGCCCTTGTCGCTCCTCGGCTCGTCGTCTTCGCCGTCGCCCCAGCTGGCGAACTTGGGCACGTCCGAGAGAAGGCCGGGCTCGCTGAACAGGCGGGTCAGCATGGTGCCTGAGGGCGCCCCGCGGGCGGGAAGGGGAGACAGACAGCACAAAGTGAGGGGCGCGCTGGGGTACCGACGCCCCCCCACAACCCTCCTCCACCCCCGAGTCTCGTGCGGGCTCCTGCCTAGGCTACCCTGGATGCCCACCTCCGCCGCCTGCCCCGCCCAGAGCCGGCCCAGCCCTACCCGGCTGCCGGCCTGGGATCTCGGCCCAGGCCCTCTCCCCGGCGCTGGGCCCCGGCTCCGCCCCTCGCTTGAATGGGGGGCTGCTCCCCGCGCCTGCTTCTTCTCAGGGTCAGGGCAGGGACCGGGTGGGGGTTTTAGGGACCAGATATCTTTGCCAGGGGAGGCGGCGCGCTCGCCCTGAAAGCCCGTTCTCTCCTGGCGGTGGAGAGAGGCTGGTCGGCCGCCGGTGGGGACAGCTGCCCCGCTCCGCGCTCTCGCGGCCCGGGCCCCCCGGCCCAGCTCCCTCACCCCTCCCGTGGCTCTCACCCCCACGCTCCCTAATCCAATTTGCAACTTGGCTGCGCGCCGCCCCTTGCTCGGCCCCCACCCCCGCACCCCCAATTCCAGAGGCGGGAGGATCGTCTCCTCTAGCCGATGCGTCCCCAGCTCCCGGAGCCGGCTCTGGGCGGCGAGGACTGAAGCAGCGGGGCGTGGGGAGGAGACTGAGAGAAGCGAGCCCAGTCCGTCCCCTCTGCGGTCAGGGACCCCCTTCCCCCTTCAAGCTGACTCCCTCCCACAAGGCTCTTCAGATCTCGTTGTATTTTGGGATTGATGGGGGAAAAATCCAAATTTGTTTGTTTGCTTCCCTTTTTTCGGTGGTGGGGAAAGGTGGCAGGCTTTTTGGGACAACCATGGAGGGGTCCTCCGTCTCGGCCTCTTCGCATATCCCCCTCCGTGATCCTGCCTTCCCCCCCCACCGAGCCCATCGCAGGCAGAGACACCTCCTCTGCAGCCCCCTGGGCTGCAGCCCCTAAGGGAGAGAGAACCTGGGGCCCCTCCGATGCCCACCCAATGAGGGGGGCATCATCCCAGGAAGGAGGTATTTGAGGACCCTCCTGTCGGCCGAAGCTGCCGCCCCTCCTCCCAACCGGCGGGTCAGATCTCGCTCCCTTTCGGACAACTTACCTCGGAGAGGAGTCAAGGGGAGAGGGGAGGGGAGGGGGGGAGGGGGCAAGAGAGAGAGGGGGGAGAAGAGGGATCTTCTCGCTTATTTCATTGTTCCCCCATCTTCAGGGAGCGGGGGCAGCGGCTCCTCAAGGCGGCGGGCGCCGGCGTCTTCAGAGCGCCATGCGAACCGCGGAGCGAGTGTGGCATCTCTACCAGGCGGGGTACCAGCCTCTATGCCAGGCCATATGGGCTTGGCACGTCACGGGCAGCAGCTATCACATGAGAGACGGTGATTGGCATGCGTCTGCACTGGGGGAGAGCCGGCTCCCCCGGGACCCGCCGCCATCTGTCACTCTCTACTCCAAAAAAAAAAAAAAAAATTAAATAAATAAAGGAAATAAATAAATATTTCTGCCGCCCTCCCCTCCCCGCCCAACGCAGGGAAAGCAGGGATTGAGAGGAAGGTGGGAGGAGTTGCCCCCTGTATATAGAGACCCCCTCACGGGAACAATGGGGTGGCAAGGCTGGACACTGGGG
|
GTGGGGCTGCCCCCAGGTCTCCATCCCCACCCCTCACCCCAGGAGGGGACAGAATGGCCGCGGGGAGGAGGAGCCGGCGAGCTCACCTCCTTCTGCCCCCCGGACGCCGGCGCCGGGCCTGCTTGTGCGTGCGGTGTGGTGTGCGTGTGTCTTTCATGCAAACCCTCCCTCCCCAAACCGACCCCCCAACAGTTTGCCATTCCATACAAATTTGGAAACAGGTTTTTAAAAAACAGCATGACGCACAACGGGGACGGGGCGGGGGAGGGCAGTGGCACTGGGGCCCCAAATCTCCGAGTCACTGATTGTAAGAACCTGGGGAGGGGGAGGGGGCGGCGCGGGCCCCCACTTCACCAAAGTGCACAGATCCGCGCTCGGGCGGGGCGGCCCGCAGGCCGGGCGGGGCATCCCGGGGCCGGGCCGGGCCGCGAGGCTCAGTGGAGCCTCCTTGCATAGATATTTGTGTCTTTGATTATTGGTAGTAGTGGTTTTTTTTTGTTTGTTTTTTTGTTTTTTGTTTTTTTTGCCTTTTATTGCTTCTAAAAGTCCTTACTGCGTTTTCTCTCCGATCCGGACTCTGCGTTCGGCTTCCGTCGCCTCTTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTATGTTTGTTTGTTTAAAAAAAGGAAAAGGGAAAAACGGATTCTAGTTACAAATTGTCTTGGCCTCTCTCTTTCCTCTCAATCCACTTCCCCTCCCGCCAAAATTAAAATCGCAAAACGCGGAGACTGGAGGTTGGGGGTGAGGGCGTTCCAGGCCCGGGCTCCGGCGCCCTAACTTCTACCCTCTTCAAGAAAGAGGGAGCGCCTGGCTCCTTTTTGCCTCGGCAGCTGGGTGTCTGTTTTTAAAATAATAATGAGAGGGGGAAACGCGTTCCATTGCTCAGCTGCCCCCTTACCAACGCCTTGGGCCTGCAGGGAGGAGGGGGAGGAGGAAACCTCAGCGAAGATATTGGGAATGGGGGAGGGGTGCCTCCAGGGAGCCCCCGGAGAGAGGTCCCTGGAGAAGCACTCCTTGGGAGAGAGGAGGAGGGAACCCCTTGGGGAGAGAGAAGGCGAGTCCCCTGGGGGAAGCGAGGCCCCTGGGACAGGCCACCCACAGGTAACAGGACTGCGCTGCCCCAGGAGAGCGGCAGGACCGGTGGCCCGCTCCCCGCGCCCGGCGCCGGGGTAGGATGGGGGTGTCCCTGCGCTCTGGGGGCTGGGGACAGGGGGGCGGGCAAAGGCAAAAGAAAAAGAAGGGAGCCGGCGCGAAGTCTCAGTTATGAAAAAACGCATTGAGCTCCTCGTACATGGGGCCCCGGTCGTGGTGAAGGTGCATATCGTAAGACAAGAGATTCTCCGAGTGGACGCCCCCGCGCACAGCCGACGAGCCGAAGACTAGCCCGTGGCCCGTGGGCCGCGAACCGGGCAGCGCCGAGTAGTGCATAGAGTAGTGGTAGCTTTTCTCGTGGTCGGGCGAGGAGTCCTGCTTGAGTGAGAAGTTGCCATTGAGACAGAGCGGGGGGCTGAGCGGGCCCTCGTACTCGGAGCTGTTGTAGTCCGGGCTCGCGCCGCCACCGCCTGCCGCCGCATACAGCGTCTCGTAGGCGGCGCAGTAGCCGTGGGTCCGCAGGGCGTGCGCCGCGCCGCCGCCCAGGCCGCCGGCCGCCTGGCACTGTGCGCCCGCCAGGCGCGAGCACGGGTACGGGTAGGGGTGCATGGCGAACGGGCCGCCCGAGCCGTGGAAGCGGCCGGCACCGTCGGCGCCTTGCTCCGTGAGGAAGTTGCGAGAGTTGAGCTGCAGACAGCCGGCCACCAGATTGGTGGTGGGCTGCGACAGACCCTTGCACAGAGTCTGCACGTAGGACACTAGGTCTGGCCGCTTGCCGGAGCGCAGGATCTCCGAGAGCGCCCAGATATAGTTCTTGGCTAGGCGCAGCGTCTCGATCTTGGACAGCTTCTGCGTCTTGGAGTAGCAGGGCACCACCTTGCGCAGGTTGTCCAGGGCTGCGTTCAGGTCGTGCGTGCGGTTGCGCTCCCGCGCGTTCGCCTTCTGCCGCCGAAGCTTGGAGCGCTCCAAGCGCGCCTTGGTCATCTTGCGCTTCTTGGGCCCGCGCTTCTTGGGCCGCTCGCCCTCCGCCTCGTCCAGTCCTTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTCCCCCCAGCTCGCCTTCCTCCTTGACCTCGGCCAACGTGGCCTCCGTCCCCTCTTCTCCACGGAGAGGGACTGGCTTGGCCGCCCGGGCTGGCCCCGGAGCCCCTGGCCCGGGCGCAGGCGGTGGCGGTGGCGGCGCGTCGCCCTTGTCGCTCCTCGGCTCGTCGTCTTCGCCGTCGCCCCAGCTGGCGAACTTGGGCACGTCCGAGAGAAGGCCGGGCTCGCTGAACAGGCGGGTCAGCATGGTGCCTGAGGGCGCCCCGCGGGCGGGAAGGGGAGACAGACAGCACAAAGTGAGGGGCGCGCTGGGGTACCGACGCCCCCCCACAACCCTCCTCCACCCCCGAGTCTCGTGCGGGCTCCTGCCTAGGCTACCCTGGATGCCCACCTCCGCCGCCTGCCCCGCCCAGAGCCGGCCCAGCCCTACCCGGCTGCCGGCCTGGGATCTCGGCCCAGGCCCTCTCCCCGGCGCTGGGCCCCGGCTCCGCCCCTCGCTTGAATGGGGGGCTGCTCCCCGCGCCTGCTTCTTCTCAGGGTCAGGGCAGGGACCGGGTGGGGGTTTTAGGGACCAGATATCTTTGCCAGGGGAGGCGGCGCGCTCGCCCTGAAAGCCCGTTCTCTCCTGGCGGTGGAGAGAGGCTGGTCGGCCGCCGGTGGGGACAGCTGCCCCGCTCCGCGCTCTCGCGGCCCGGGCCCCCCGGCCCAGCTCCCTCACCCCTCCCGTGGCTCTCACCCCCACGCTCCCTAATCCAATTTGCAACTTGGCTGCGCGCCGCCCCTTGCTCGGCCCCCACCCCCGCACCCCCAATTCCAGAGGCGGGAGGATCGTCTCCTCTAGCCGATGCGTCCCCAGCTCCCGGAGCCGGCTCTGGGCGGCGAGGACTGAAGCAGCGGGGCGTGGGGAGGAGACTGAGAGAAGCGAGCCCAGTCCGTCCCCTCTGCGGTCAGGGACCCCCTTCCCCCTTCAAGCTGACTCCCTCCCACAAGGCTCTTCAGATCTCGTTGTATTTTGGGATTGATGGGGGAAAAATCCAAATTTGTTTGTTTGCTTCCCTTTTTTCGGTGGTGGGGAAAGGTGGCAGGCTTTTTGGGACAACCATGGAGGGGTCCTCCGTCTCGGCCTCTTCGCATATCCCCCTCCGTGATCCTGCCTTCCCCCCCCACCGAGCCCATCGCAGGCAGAGACACCTCCTCTGCAGCCCCCTGGGCTGCAGCCCCTAAGGGAGAGAGAACCTGGGGCCCCTCCGATGCCCACCCAATGAGGGGGGCATCATCCCAGGAAGGAGGTATTTGAGGACCCTCCTGTCGGCCGAAGCTGCCGCCCCTCCTCCCAACCGGCGGGTCAGATCTCGCTCCCTTTCGGACAACTTACCTCGGAGAGGAGTCAAGGGGAGAGGGGAGGGGAGGGGGGGAGGGGGCAAGAGAGAGAGGGGGGAGAAGAGGGATCTTCTCGCTTATTTCATTGTTCCCCCATCTTCAGGGAGCGGGGGCAGCGGCTCCTCAAGGCGGCGGGCGCCGGCGTCTTCAGAGCGCCATGCGAACCGCGGAGCGAGTGTGGCATCTCTACCAGGCGGGGTACCAGCCTCTATGCCAGGCCATATGGGCTTGGCACGTCACGGGCAGCAGCTATCACATGAGAGACGGTGATTGGCATGCGTCTGCACTGGGGGAGAGCCGGCTCCCCCGGGACCCGCCGCCATCTGTCACTCTCTACTCCAAAAAAAAAAAAAAAAATTAAATAAATAAAGGAAATAAATAAATATTTCTGCCGCCCTCCCCTCCCCGCCCAACGCAGGGAAAGCAGGGATTGAGAGGAAGGTGGGAGGAGTTGCCCCCTGTATATAGAGACCCCCTCACGGGAACAATGGGGTGGCAAGGCTGGACACTGGGG
|
Task1_train_24213
|
This sequence change occurs on Chromosome 17, altering NEUROD2 (neuronal differentiation 2). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Developmental and epileptic encephalopathy, 72
|
CAGGTCTCCATCCCCACCCCTCACCCCAGGAGGGGACAGAATGGCCGCGGGGAGGAGGAGCCGGCGAGCTCACCTCCTTCTGCCCCCCGGACGCCGGCGCCGGGCCTGCTTGTGCGTGCGGTGTGGTGTGCGTGTGTCTTTCATGCAAACCCTCCCTCCCCAAACCGACCCCCCAACAGTTTGCCATTCCATACAAATTTGGAAACAGGTTTTTAAAAAACAGCATGACGCACAACGGGGACGGGGCGGGGGAGGGCAGTGGCACTGGGGCCCCAAATCTCCGAGTCACTGATTGTAAGAACCTGGGGAGGGGGAGGGGGCGGCGCGGGCCCCCACTTCACCAAAGTGCACAGATCCGCGCTCGGGCGGGGCGGCCCGCAGGCCGGGCGGGGCATCCCGGGGCCGGGCCGGGCCGCGAGGCTCAGTGGAGCCTCCTTGCATAGATATTTGTGTCTTTGATTATTGGTAGTAGTGGTTTTTTTTTGTTTGTTTTTTTGTTTTTTGTTTTTTTTGCCTTTTATTGCTTCTAAAAGTCCTTACTGCGTTTTCTCTCCGATCCGGACTCTGCGTTCGGCTTCCGTCGCCTCTTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTATGTTTGTTTGTTTAAAAAAAGGAAAAGGGAAAAACGGATTCTAGTTACAAATTGTCTTGGCCTCTCTCTTTCCTCTCAATCCACTTCCCCTCCCGCCAAAATTAAAATCGCAAAACGCGGAGACTGGAGGTTGGGGGTGAGGGCGTTCCAGGCCCGGGCTCCGGCGCCCTAACTTCTACCCTCTTCAAGAAAGAGGGAGCGCCTGGCTCCTTTTTGCCTCGGCAGCTGGGTGTCTGTTTTTAAAATAATAATGAGAGGGGGAAACGCGTTCCATTGCTCAGCTGCCCCCTTACCAACGCCTTGGGCCTGCAGGGAGGAGGGGGAGGAGGAAACCTCAGCGAAGATATTGGGAATGGGGGAGGGGTGCCTCCAGGGAGCCCCCGGAGAGAGGTCCCTGGAGAAGCACTCCTTGGGAGAGAGGAGGAGGGAACCCCTTGGGGAGAGAGAAGGCGAGTCCCCTGGGGGAAGCGAGGCCCCTGGGACAGGCCACCCACAGGTAACAGGACTGCGCTGCCCCAGGAGAGCGGCAGGACCGGTGGCCCGCTCCCCGCGCCCGGCGCCGGGGTAGGATGGGGGTGTCCCTGCGCTCTGGGGGCTGGGGACAGGGGGGCGGGCAAAGGCAAAAGAAAAAGAAGGGAGCCGGCGCGAAGTCTCAGTTATGAAAAAACGCATTGAGCTCCTCGTACATGGGGCCCCGGTCGTGGTGAAGGTGCATATCGTAAGACAAGAGATTCTCCGAGTGGACGCCCCCGCGCACAGCCGACGAGCCGAAGACTAGCCCGTGGCCCGTGGGCCGCGAACCGGGCAGCGCCGAGTAGTGCATAGAGTAGTGGTAGCTTTTCTCGTGGTCGGGCGAGGAGTCCTGCTTGAGTGAGAAGTTGCCATTGAGACAGAGCGGGGGGCTGAGCGGGCCCTCGTACTCGGAGCTGTTGTAGTCCGGGCTCGCGCCGCCACCGCCTGCCGCCGCATACAGCGTCTCGTAGGCGGCGCAGTAGCCGTGGGTCCGCAGGGCGTGCGCCGCGCCGCCGCCCAGGCCGCCGGCCGCCTGGCACTGTGCGCCCGCCAGGCGCGAGCACGGGTACGGGTAGGGGTGCATGGCGAACGGGCCGCCCGAGCCGTGGAAGCGGCCGGCACCGTCGGCGCCTTGCTCCGTGAGGAAGTTGCGAGAGTTGAGCTGCAGACAGCCGGCCACCAGATTGGTGGTGGGCTGCGACAGACCCTTGCACAGAGTCTGCACGTAGGACACTAGGTCTGGCCGCTTGCCGGAGCGCAGGATCTCCGAGAGCGCCCAGATATAGTTCTTGGCTAGGCGCAGCGTCTCGATCTTGGACAGCTTCTGCGTCTTGGAGTAGCAGGGCACCACCTTGCGCAGGTTGTCCAGGGCTGCGTTCAGGTCGTGCATGCGGTTGCGCTCCCGCGCGTTCGCCTTCTGCCGCCGAAGCTTGGAGCGCTCCAAGCGCGCCTTGGTCATCTTGCGCTTCTTGGGCCCGCGCTTCTTGGGCCGCTCGCCCTCCGCCTCGTCCAGTCCTTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTCCCCCCAGCTCGCCTTCCTCCTTGACCTCGGCCAACGTGGCCTCCGTCCCCTCTTCTCCACGGAGAGGGACTGGCTTGGCCGCCCGGGCTGGCCCCGGAGCCCCTGGCCCGGGCGCAGGCGGTGGCGGTGGCGGCGCGTCGCCCTTGTCGCTCCTCGGCTCGTCGTCTTCGCCGTCGCCCCAGCTGGCGAACTTGGGCACGTCCGAGAGAAGGCCGGGCTCGCTGAACAGGCGGGTCAGCATGGTGCCTGAGGGCGCCCCGCGGGCGGGAAGGGGAGACAGACAGCACAAAGTGAGGGGCGCGCTGGGGTACCGACGCCCCCCCACAACCCTCCTCCACCCCCGAGTCTCGTGCGGGCTCCTGCCTAGGCTACCCTGGATGCCCACCTCCGCCGCCTGCCCCGCCCAGAGCCGGCCCAGCCCTACCCGGCTGCCGGCCTGGGATCTCGGCCCAGGCCCTCTCCCCGGCGCTGGGCCCCGGCTCCGCCCCTCGCTTGAATGGGGGGCTGCTCCCCGCGCCTGCTTCTTCTCAGGGTCAGGGCAGGGACCGGGTGGGGGTTTTAGGGACCAGATATCTTTGCCAGGGGAGGCGGCGCGCTCGCCCTGAAAGCCCGTTCTCTCCTGGCGGTGGAGAGAGGCTGGTCGGCCGCCGGTGGGGACAGCTGCCCCGCTCCGCGCTCTCGCGGCCCGGGCCCCCCGGCCCAGCTCCCTCACCCCTCCCGTGGCTCTCACCCCCACGCTCCCTAATCCAATTTGCAACTTGGCTGCGCGCCGCCCCTTGCTCGGCCCCCACCCCCGCACCCCCAATTCCAGAGGCGGGAGGATCGTCTCCTCTAGCCGATGCGTCCCCAGCTCCCGGAGCCGGCTCTGGGCGGCGAGGACTGAAGCAGCGGGGCGTGGGGAGGAGACTGAGAGAAGCGAGCCCAGTCCGTCCCCTCTGCGGTCAGGGACCCCCTTCCCCCTTCAAGCTGACTCCCTCCCACAAGGCTCTTCAGATCTCGTTGTATTTTGGGATTGATGGGGGAAAAATCCAAATTTGTTTGTTTGCTTCCCTTTTTTCGGTGGTGGGGAAAGGTGGCAGGCTTTTTGGGACAACCATGGAGGGGTCCTCCGTCTCGGCCTCTTCGCATATCCCCCTCCGTGATCCTGCCTTCCCCCCCCACCGAGCCCATCGCAGGCAGAGACACCTCCTCTGCAGCCCCCTGGGCTGCAGCCCCTAAGGGAGAGAGAACCTGGGGCCCCTCCGATGCCCACCCAATGAGGGGGGCATCATCCCAGGAAGGAGGTATTTGAGGACCCTCCTGTCGGCCGAAGCTGCCGCCCCTCCTCCCAACCGGCGGGTCAGATCTCGCTCCCTTTCGGACAACTTACCTCGGAGAGGAGTCAAGGGGAGAGGGGAGGGGAGGGGGGGAGGGGGCAAGAGAGAGAGGGGGGAGAAGAGGGATCTTCTCGCTTATTTCATTGTTCCCCCATCTTCAGGGAGCGGGGGCAGCGGCTCCTCAAGGCGGCGGGCGCCGGCGTCTTCAGAGCGCCATGCGAACCGCGGAGCGAGTGTGGCATCTCTACCAGGCGGGGTACCAGCCTCTATGCCAGGCCATATGGGCTTGGCACGTCACGGGCAGCAGCTATCACATGAGAGACGGTGATTGGCATGCGTCTGCACTGGGGGAGAGCCGGCTCCCCCGGGACCCGCCGCCATCTGTCACTCTCTACTCCAAAAAAAAAAAAAAAAATTAAATAAATAAAGGAAATAAATAAATATTTCTGCCGCCCTCCCCTCCCCGCCCAACGCAGGGAAAGCAGGGATTGAGAGGAAGGTGGGAGGAGTTGCCCCCTGTATATAGAGACCCCCTCACGGGAACAATGGGGTGGCAAGGCTGGACACTGGGGGCTCGTGGTGGCC
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CAGGTCTCCATCCCCACCCCTCACCCCAGGAGGGGACAGAATGGCCGCGGGGAGGAGGAGCCGGCGAGCTCACCTCCTTCTGCCCCCCGGACGCCGGCGCCGGGCCTGCTTGTGCGTGCGGTGTGGTGTGCGTGTGTCTTTCATGCAAACCCTCCCTCCCCAAACCGACCCCCCAACAGTTTGCCATTCCATACAAATTTGGAAACAGGTTTTTAAAAAACAGCATGACGCACAACGGGGACGGGGCGGGGGAGGGCAGTGGCACTGGGGCCCCAAATCTCCGAGTCACTGATTGTAAGAACCTGGGGAGGGGGAGGGGGCGGCGCGGGCCCCCACTTCACCAAAGTGCACAGATCCGCGCTCGGGCGGGGCGGCCCGCAGGCCGGGCGGGGCATCCCGGGGCCGGGCCGGGCCGCGAGGCTCAGTGGAGCCTCCTTGCATAGATATTTGTGTCTTTGATTATTGGTAGTAGTGGTTTTTTTTTGTTTGTTTTTTTGTTTTTTGTTTTTTTTGCCTTTTATTGCTTCTAAAAGTCCTTACTGCGTTTTCTCTCCGATCCGGACTCTGCGTTCGGCTTCCGTCGCCTCTTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTATGTTTGTTTGTTTAAAAAAAGGAAAAGGGAAAAACGGATTCTAGTTACAAATTGTCTTGGCCTCTCTCTTTCCTCTCAATCCACTTCCCCTCCCGCCAAAATTAAAATCGCAAAACGCGGAGACTGGAGGTTGGGGGTGAGGGCGTTCCAGGCCCGGGCTCCGGCGCCCTAACTTCTACCCTCTTCAAGAAAGAGGGAGCGCCTGGCTCCTTTTTGCCTCGGCAGCTGGGTGTCTGTTTTTAAAATAATAATGAGAGGGGGAAACGCGTTCCATTGCTCAGCTGCCCCCTTACCAACGCCTTGGGCCTGCAGGGAGGAGGGGGAGGAGGAAACCTCAGCGAAGATATTGGGAATGGGGGAGGGGTGCCTCCAGGGAGCCCCCGGAGAGAGGTCCCTGGAGAAGCACTCCTTGGGAGAGAGGAGGAGGGAACCCCTTGGGGAGAGAGAAGGCGAGTCCCCTGGGGGAAGCGAGGCCCCTGGGACAGGCCACCCACAGGTAACAGGACTGCGCTGCCCCAGGAGAGCGGCAGGACCGGTGGCCCGCTCCCCGCGCCCGGCGCCGGGGTAGGATGGGGGTGTCCCTGCGCTCTGGGGGCTGGGGACAGGGGGGCGGGCAAAGGCAAAAGAAAAAGAAGGGAGCCGGCGCGAAGTCTCAGTTATGAAAAAACGCATTGAGCTCCTCGTACATGGGGCCCCGGTCGTGGTGAAGGTGCATATCGTAAGACAAGAGATTCTCCGAGTGGACGCCCCCGCGCACAGCCGACGAGCCGAAGACTAGCCCGTGGCCCGTGGGCCGCGAACCGGGCAGCGCCGAGTAGTGCATAGAGTAGTGGTAGCTTTTCTCGTGGTCGGGCGAGGAGTCCTGCTTGAGTGAGAAGTTGCCATTGAGACAGAGCGGGGGGCTGAGCGGGCCCTCGTACTCGGAGCTGTTGTAGTCCGGGCTCGCGCCGCCACCGCCTGCCGCCGCATACAGCGTCTCGTAGGCGGCGCAGTAGCCGTGGGTCCGCAGGGCGTGCGCCGCGCCGCCGCCCAGGCCGCCGGCCGCCTGGCACTGTGCGCCCGCCAGGCGCGAGCACGGGTACGGGTAGGGGTGCATGGCGAACGGGCCGCCCGAGCCGTGGAAGCGGCCGGCACCGTCGGCGCCTTGCTCCGTGAGGAAGTTGCGAGAGTTGAGCTGCAGACAGCCGGCCACCAGATTGGTGGTGGGCTGCGACAGACCCTTGCACAGAGTCTGCACGTAGGACACTAGGTCTGGCCGCTTGCCGGAGCGCAGGATCTCCGAGAGCGCCCAGATATAGTTCTTGGCTAGGCGCAGCGTCTCGATCTTGGACAGCTTCTGCGTCTTGGAGTAGCAGGGCACCACCTTGCGCAGGTTGTCCAGGGCTGCGTTCAGGTCGTGCATGCGGTTGCGCTGCCGCGCGTTCGCCTTCTGCCGCCGAAGCTTGGAGCGCTCCAAGCGCGCCTTGGTCATCTTGCGCTTCTTGGGCCCGCGCTTCTTGGGCCGCTCGCCCTCCGCCTCGTCCAGTCCTTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTCCCCCCAGCTCGCCTTCCTCCTTGACCTCGGCCAACGTGGCCTCCGTCCCCTCTTCTCCACGGAGAGGGACTGGCTTGGCCGCCCGGGCTGGCCCCGGAGCCCCTGGCCCGGGCGCAGGCGGTGGCGGTGGCGGCGCGTCGCCCTTGTCGCTCCTCGGCTCGTCGTCTTCGCCGTCGCCCCAGCTGGCGAACTTGGGCACGTCCGAGAGAAGGCCGGGCTCGCTGAACAGGCGGGTCAGCATGGTGCCTGAGGGCGCCCCGCGGGCGGGAAGGGGAGACAGACAGCACAAAGTGAGGGGCGCGCTGGGGTACCGACGCCCCCCCACAACCCTCCTCCACCCCCGAGTCTCGTGCGGGCTCCTGCCTAGGCTACCCTGGATGCCCACCTCCGCCGCCTGCCCCGCCCAGAGCCGGCCCAGCCCTACCCGGCTGCCGGCCTGGGATCTCGGCCCAGGCCCTCTCCCCGGCGCTGGGCCCCGGCTCCGCCCCTCGCTTGAATGGGGGGCTGCTCCCCGCGCCTGCTTCTTCTCAGGGTCAGGGCAGGGACCGGGTGGGGGTTTTAGGGACCAGATATCTTTGCCAGGGGAGGCGGCGCGCTCGCCCTGAAAGCCCGTTCTCTCCTGGCGGTGGAGAGAGGCTGGTCGGCCGCCGGTGGGGACAGCTGCCCCGCTCCGCGCTCTCGCGGCCCGGGCCCCCCGGCCCAGCTCCCTCACCCCTCCCGTGGCTCTCACCCCCACGCTCCCTAATCCAATTTGCAACTTGGCTGCGCGCCGCCCCTTGCTCGGCCCCCACCCCCGCACCCCCAATTCCAGAGGCGGGAGGATCGTCTCCTCTAGCCGATGCGTCCCCAGCTCCCGGAGCCGGCTCTGGGCGGCGAGGACTGAAGCAGCGGGGCGTGGGGAGGAGACTGAGAGAAGCGAGCCCAGTCCGTCCCCTCTGCGGTCAGGGACCCCCTTCCCCCTTCAAGCTGACTCCCTCCCACAAGGCTCTTCAGATCTCGTTGTATTTTGGGATTGATGGGGGAAAAATCCAAATTTGTTTGTTTGCTTCCCTTTTTTCGGTGGTGGGGAAAGGTGGCAGGCTTTTTGGGACAACCATGGAGGGGTCCTCCGTCTCGGCCTCTTCGCATATCCCCCTCCGTGATCCTGCCTTCCCCCCCCACCGAGCCCATCGCAGGCAGAGACACCTCCTCTGCAGCCCCCTGGGCTGCAGCCCCTAAGGGAGAGAGAACCTGGGGCCCCTCCGATGCCCACCCAATGAGGGGGGCATCATCCCAGGAAGGAGGTATTTGAGGACCCTCCTGTCGGCCGAAGCTGCCGCCCCTCCTCCCAACCGGCGGGTCAGATCTCGCTCCCTTTCGGACAACTTACCTCGGAGAGGAGTCAAGGGGAGAGGGGAGGGGAGGGGGGGAGGGGGCAAGAGAGAGAGGGGGGAGAAGAGGGATCTTCTCGCTTATTTCATTGTTCCCCCATCTTCAGGGAGCGGGGGCAGCGGCTCCTCAAGGCGGCGGGCGCCGGCGTCTTCAGAGCGCCATGCGAACCGCGGAGCGAGTGTGGCATCTCTACCAGGCGGGGTACCAGCCTCTATGCCAGGCCATATGGGCTTGGCACGTCACGGGCAGCAGCTATCACATGAGAGACGGTGATTGGCATGCGTCTGCACTGGGGGAGAGCCGGCTCCCCCGGGACCCGCCGCCATCTGTCACTCTCTACTCCAAAAAAAAAAAAAAAAATTAAATAAATAAAGGAAATAAATAAATATTTCTGCCGCCCTCCCCTCCCCGCCCAACGCAGGGAAAGCAGGGATTGAGAGGAAGGTGGGAGGAGTTGCCCCCTGTATATAGAGACCCCCTCACGGGAACAATGGGGTGGCAAGGCTGGACACTGGGGGCTCGTGGTGGCC
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Task1_train_24214
|
This variant impacts the gene NEUROD2 (neuronal differentiation 2) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; not provided
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CAGGTCTCCATCCCCACCCCTCACCCCAGGAGGGGACAGAATGGCCGCGGGGAGGAGGAGCCGGCGAGCTCACCTCCTTCTGCCCCCCGGACGCCGGCGCCGGGCCTGCTTGTGCGTGCGGTGTGGTGTGCGTGTGTCTTTCATGCAAACCCTCCCTCCCCAAACCGACCCCCCAACAGTTTGCCATTCCATACAAATTTGGAAACAGGTTTTTAAAAAACAGCATGACGCACAACGGGGACGGGGCGGGGGAGGGCAGTGGCACTGGGGCCCCAAATCTCCGAGTCACTGATTGTAAGAACCTGGGGAGGGGGAGGGGGCGGCGCGGGCCCCCACTTCACCAAAGTGCACAGATCCGCGCTCGGGCGGGGCGGCCCGCAGGCCGGGCGGGGCATCCCGGGGCCGGGCCGGGCCGCGAGGCTCAGTGGAGCCTCCTTGCATAGATATTTGTGTCTTTGATTATTGGTAGTAGTGGTTTTTTTTTGTTTGTTTTTTTGTTTTTTGTTTTTTTTGCCTTTTATTGCTTCTAAAAGTCCTTACTGCGTTTTCTCTCCGATCCGGACTCTGCGTTCGGCTTCCGTCGCCTCTTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTATGTTTGTTTGTTTAAAAAAAGGAAAAGGGAAAAACGGATTCTAGTTACAAATTGTCTTGGCCTCTCTCTTTCCTCTCAATCCACTTCCCCTCCCGCCAAAATTAAAATCGCAAAACGCGGAGACTGGAGGTTGGGGGTGAGGGCGTTCCAGGCCCGGGCTCCGGCGCCCTAACTTCTACCCTCTTCAAGAAAGAGGGAGCGCCTGGCTCCTTTTTGCCTCGGCAGCTGGGTGTCTGTTTTTAAAATAATAATGAGAGGGGGAAACGCGTTCCATTGCTCAGCTGCCCCCTTACCAACGCCTTGGGCCTGCAGGGAGGAGGGGGAGGAGGAAACCTCAGCGAAGATATTGGGAATGGGGGAGGGGTGCCTCCAGGGAGCCCCCGGAGAGAGGTCCCTGGAGAAGCACTCCTTGGGAGAGAGGAGGAGGGAACCCCTTGGGGAGAGAGAAGGCGAGTCCCCTGGGGGAAGCGAGGCCCCTGGGACAGGCCACCCACAGGTAACAGGACTGCGCTGCCCCAGGAGAGCGGCAGGACCGGTGGCCCGCTCCCCGCGCCCGGCGCCGGGGTAGGATGGGGGTGTCCCTGCGCTCTGGGGGCTGGGGACAGGGGGGCGGGCAAAGGCAAAAGAAAAAGAAGGGAGCCGGCGCGAAGTCTCAGTTATGAAAAAACGCATTGAGCTCCTCGTACATGGGGCCCCGGTCGTGGTGAAGGTGCATATCGTAAGACAAGAGATTCTCCGAGTGGACGCCCCCGCGCACAGCCGACGAGCCGAAGACTAGCCCGTGGCCCGTGGGCCGCGAACCGGGCAGCGCCGAGTAGTGCATAGAGTAGTGGTAGCTTTTCTCGTGGTCGGGCGAGGAGTCCTGCTTGAGTGAGAAGTTGCCATTGAGACAGAGCGGGGGGCTGAGCGGGCCCTCGTACTCGGAGCTGTTGTAGTCCGGGCTCGCGCCGCCACCGCCTGCCGCCGCATACAGCGTCTCGTAGGCGGCGCAGTAGCCGTGGGTCCGCAGGGCGTGCGCCGCGCCGCCGCCCAGGCCGCCGGCCGCCTGGCACTGTGCGCCCGCCAGGCGCGAGCACGGGTACGGGTAGGGGTGCATGGCGAACGGGCCGCCCGAGCCGTGGAAGCGGCCGGCACCGTCGGCGCCTTGCTCCGTGAGGAAGTTGCGAGAGTTGAGCTGCAGACAGCCGGCCACCAGATTGGTGGTGGGCTGCGACAGACCCTTGCACAGAGTCTGCACGTAGGACACTAGGTCTGGCCGCTTGCCGGAGCGCAGGATCTCCGAGAGCGCCCAGATATAGTTCTTGGCTAGGCGCAGCGTCTCGATCTTGGACAGCTTCTGCGTCTTGGAGTAGCAGGGCACCACCTTGCGCAGGTTGTCCAGGGCTGCGTTCAGGTCGTGCATGCGGTTGCGCTCCCGCGCGTTCGCCTTCTGCCGCCGAAGCTTGGAGCGCTCCAAGCGCGCCTTGGTCATCTTGCGCTTCTTGGGCCCGCGCTTCTTGGGCCGCTCGCCCTCCGCCTCGTCCAGTCCTTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTCCCCCCAGCTCGCCTTCCTCCTTGACCTCGGCCAACGTGGCCTCCGTCCCCTCTTCTCCACGGAGAGGGACTGGCTTGGCCGCCCGGGCTGGCCCCGGAGCCCCTGGCCCGGGCGCAGGCGGTGGCGGTGGCGGCGCGTCGCCCTTGTCGCTCCTCGGCTCGTCGTCTTCGCCGTCGCCCCAGCTGGCGAACTTGGGCACGTCCGAGAGAAGGCCGGGCTCGCTGAACAGGCGGGTCAGCATGGTGCCTGAGGGCGCCCCGCGGGCGGGAAGGGGAGACAGACAGCACAAAGTGAGGGGCGCGCTGGGGTACCGACGCCCCCCCACAACCCTCCTCCACCCCCGAGTCTCGTGCGGGCTCCTGCCTAGGCTACCCTGGATGCCCACCTCCGCCGCCTGCCCCGCCCAGAGCCGGCCCAGCCCTACCCGGCTGCCGGCCTGGGATCTCGGCCCAGGCCCTCTCCCCGGCGCTGGGCCCCGGCTCCGCCCCTCGCTTGAATGGGGGGCTGCTCCCCGCGCCTGCTTCTTCTCAGGGTCAGGGCAGGGACCGGGTGGGGGTTTTAGGGACCAGATATCTTTGCCAGGGGAGGCGGCGCGCTCGCCCTGAAAGCCCGTTCTCTCCTGGCGGTGGAGAGAGGCTGGTCGGCCGCCGGTGGGGACAGCTGCCCCGCTCCGCGCTCTCGCGGCCCGGGCCCCCCGGCCCAGCTCCCTCACCCCTCCCGTGGCTCTCACCCCCACGCTCCCTAATCCAATTTGCAACTTGGCTGCGCGCCGCCCCTTGCTCGGCCCCCACCCCCGCACCCCCAATTCCAGAGGCGGGAGGATCGTCTCCTCTAGCCGATGCGTCCCCAGCTCCCGGAGCCGGCTCTGGGCGGCGAGGACTGAAGCAGCGGGGCGTGGGGAGGAGACTGAGAGAAGCGAGCCCAGTCCGTCCCCTCTGCGGTCAGGGACCCCCTTCCCCCTTCAAGCTGACTCCCTCCCACAAGGCTCTTCAGATCTCGTTGTATTTTGGGATTGATGGGGGAAAAATCCAAATTTGTTTGTTTGCTTCCCTTTTTTCGGTGGTGGGGAAAGGTGGCAGGCTTTTTGGGACAACCATGGAGGGGTCCTCCGTCTCGGCCTCTTCGCATATCCCCCTCCGTGATCCTGCCTTCCCCCCCCACCGAGCCCATCGCAGGCAGAGACACCTCCTCTGCAGCCCCCTGGGCTGCAGCCCCTAAGGGAGAGAGAACCTGGGGCCCCTCCGATGCCCACCCAATGAGGGGGGCATCATCCCAGGAAGGAGGTATTTGAGGACCCTCCTGTCGGCCGAAGCTGCCGCCCCTCCTCCCAACCGGCGGGTCAGATCTCGCTCCCTTTCGGACAACTTACCTCGGAGAGGAGTCAAGGGGAGAGGGGAGGGGAGGGGGGGAGGGGGCAAGAGAGAGAGGGGGGAGAAGAGGGATCTTCTCGCTTATTTCATTGTTCCCCCATCTTCAGGGAGCGGGGGCAGCGGCTCCTCAAGGCGGCGGGCGCCGGCGTCTTCAGAGCGCCATGCGAACCGCGGAGCGAGTGTGGCATCTCTACCAGGCGGGGTACCAGCCTCTATGCCAGGCCATATGGGCTTGGCACGTCACGGGCAGCAGCTATCACATGAGAGACGGTGATTGGCATGCGTCTGCACTGGGGGAGAGCCGGCTCCCCCGGGACCCGCCGCCATCTGTCACTCTCTACTCCAAAAAAAAAAAAAAAAATTAAATAAATAAAGGAAATAAATAAATATTTCTGCCGCCCTCCCCTCCCCGCCCAACGCAGGGAAAGCAGGGATTGAGAGGAAGGTGGGAGGAGTTGCCCCCTGTATATAGAGACCCCCTCACGGGAACAATGGGGTGGCAAGGCTGGACACTGGGGGCTCGTGGTGGCC
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CAGGTCTCCATCCCCACCCCTCACCCCAGGAGGGGACAGAATGGCCGCGGGGAGGAGGAGCCGGCGAGCTCACCTCCTTCTGCCCCCCGGACGCCGGCGCCGGGCCTGCTTGTGCGTGCGGTGTGGTGTGCGTGTGTCTTTCATGCAAACCCTCCCTCCCCAAACCGACCCCCCAACAGTTTGCCATTCCATACAAATTTGGAAACAGGTTTTTAAAAAACAGCATGACGCACAACGGGGACGGGGCGGGGGAGGGCAGTGGCACTGGGGCCCCAAATCTCCGAGTCACTGATTGTAAGAACCTGGGGAGGGGGAGGGGGCGGCGCGGGCCCCCACTTCACCAAAGTGCACAGATCCGCGCTCGGGCGGGGCGGCCCGCAGGCCGGGCGGGGCATCCCGGGGCCGGGCCGGGCCGCGAGGCTCAGTGGAGCCTCCTTGCATAGATATTTGTGTCTTTGATTATTGGTAGTAGTGGTTTTTTTTTGTTTGTTTTTTTGTTTTTTGTTTTTTTTGCCTTTTATTGCTTCTAAAAGTCCTTACTGCGTTTTCTCTCCGATCCGGACTCTGCGTTCGGCTTCCGTCGCCTCTTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTATGTTTGTTTGTTTAAAAAAAGGAAAAGGGAAAAACGGATTCTAGTTACAAATTGTCTTGGCCTCTCTCTTTCCTCTCAATCCACTTCCCCTCCCGCCAAAATTAAAATCGCAAAACGCGGAGACTGGAGGTTGGGGGTGAGGGCGTTCCAGGCCCGGGCTCCGGCGCCCTAACTTCTACCCTCTTCAAGAAAGAGGGAGCGCCTGGCTCCTTTTTGCCTCGGCAGCTGGGTGTCTGTTTTTAAAATAATAATGAGAGGGGGAAACGCGTTCCATTGCTCAGCTGCCCCCTTACCAACGCCTTGGGCCTGCAGGGAGGAGGGGGAGGAGGAAACCTCAGCGAAGATATTGGGAATGGGGGAGGGGTGCCTCCAGGGAGCCCCCGGAGAGAGGTCCCTGGAGAAGCACTCCTTGGGAGAGAGGAGGAGGGAACCCCTTGGGGAGAGAGAAGGCGAGTCCCCTGGGGGAAGCGAGGCCCCTGGGACAGGCCACCCACAGGTAACAGGACTGCGCTGCCCCAGGAGAGCGGCAGGACCGGTGGCCCGCTCCCCGCGCCCGGCGCCGGGGTAGGATGGGGGTGTCCCTGCGCTCTGGGGGCTGGGGACAGGGGGGCGGGCAAAGGCAAAAGAAAAAGAAGGGAGCCGGCGCGAAGTCTCAGTTATGAAAAAACGCATTGAGCTCCTCGTACATGGGGCCCCGGTCGTGGTGAAGGTGCATATCGTAAGACAAGAGATTCTCCGAGTGGACGCCCCCGCGCACAGCCGACGAGCCGAAGACTAGCCCGTGGCCCGTGGGCCGCGAACCGGGCAGCGCCGAGTAGTGCATAGAGTAGTGGTAGCTTTTCTCGTGGTCGGGCGAGGAGTCCTGCTTGAGTGAGAAGTTGCCATTGAGACAGAGCGGGGGGCTGAGCGGGCCCTCGTACTCGGAGCTGTTGTAGTCCGGGCTCGCGCCGCCACCGCCTGCCGCCGCATACAGCGTCTCGTAGGCGGCGCAGTAGCCGTGGGTCCGCAGGGCGTGCGCCGCGCCGCCGCCCAGGCCGCCGGCCGCCTGGCACTGTGCGCCCGCCAGGCGCGAGCACGGGTACGGGTAGGGGTGCATGGCGAACGGGCCGCCCGAGCCGTGGAAGCGGCCGGCACCGTCGGCGCCTTGCTCCGTGAGGAAGTTGCGAGAGTTGAGCTGCAGACAGCCGGCCACCAGATTGGTGGTGGGCTGCGACAGACCCTTGCACAGAGTCTGCACGTAGGACACTAGGTCTGGCCGCTTGCCGGAGCGCAGGATCTCCGAGAGCGCCCAGATATAGTTCTTGGCTAGGCGCAGCGTCTCGATCTTGGACAGCTTCTGCGTCTTGGAGTAGCAGGGCACCACCTTGCGCAGGTTGTCCAGGGCTGCGTTCAGGTCGTGCATGCGGTTGCGCTTCCGCGCGTTCGCCTTCTGCCGCCGAAGCTTGGAGCGCTCCAAGCGCGCCTTGGTCATCTTGCGCTTCTTGGGCCCGCGCTTCTTGGGCCGCTCGCCCTCCGCCTCGTCCAGTCCTTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTCCCCCCAGCTCGCCTTCCTCCTTGACCTCGGCCAACGTGGCCTCCGTCCCCTCTTCTCCACGGAGAGGGACTGGCTTGGCCGCCCGGGCTGGCCCCGGAGCCCCTGGCCCGGGCGCAGGCGGTGGCGGTGGCGGCGCGTCGCCCTTGTCGCTCCTCGGCTCGTCGTCTTCGCCGTCGCCCCAGCTGGCGAACTTGGGCACGTCCGAGAGAAGGCCGGGCTCGCTGAACAGGCGGGTCAGCATGGTGCCTGAGGGCGCCCCGCGGGCGGGAAGGGGAGACAGACAGCACAAAGTGAGGGGCGCGCTGGGGTACCGACGCCCCCCCACAACCCTCCTCCACCCCCGAGTCTCGTGCGGGCTCCTGCCTAGGCTACCCTGGATGCCCACCTCCGCCGCCTGCCCCGCCCAGAGCCGGCCCAGCCCTACCCGGCTGCCGGCCTGGGATCTCGGCCCAGGCCCTCTCCCCGGCGCTGGGCCCCGGCTCCGCCCCTCGCTTGAATGGGGGGCTGCTCCCCGCGCCTGCTTCTTCTCAGGGTCAGGGCAGGGACCGGGTGGGGGTTTTAGGGACCAGATATCTTTGCCAGGGGAGGCGGCGCGCTCGCCCTGAAAGCCCGTTCTCTCCTGGCGGTGGAGAGAGGCTGGTCGGCCGCCGGTGGGGACAGCTGCCCCGCTCCGCGCTCTCGCGGCCCGGGCCCCCCGGCCCAGCTCCCTCACCCCTCCCGTGGCTCTCACCCCCACGCTCCCTAATCCAATTTGCAACTTGGCTGCGCGCCGCCCCTTGCTCGGCCCCCACCCCCGCACCCCCAATTCCAGAGGCGGGAGGATCGTCTCCTCTAGCCGATGCGTCCCCAGCTCCCGGAGCCGGCTCTGGGCGGCGAGGACTGAAGCAGCGGGGCGTGGGGAGGAGACTGAGAGAAGCGAGCCCAGTCCGTCCCCTCTGCGGTCAGGGACCCCCTTCCCCCTTCAAGCTGACTCCCTCCCACAAGGCTCTTCAGATCTCGTTGTATTTTGGGATTGATGGGGGAAAAATCCAAATTTGTTTGTTTGCTTCCCTTTTTTCGGTGGTGGGGAAAGGTGGCAGGCTTTTTGGGACAACCATGGAGGGGTCCTCCGTCTCGGCCTCTTCGCATATCCCCCTCCGTGATCCTGCCTTCCCCCCCCACCGAGCCCATCGCAGGCAGAGACACCTCCTCTGCAGCCCCCTGGGCTGCAGCCCCTAAGGGAGAGAGAACCTGGGGCCCCTCCGATGCCCACCCAATGAGGGGGGCATCATCCCAGGAAGGAGGTATTTGAGGACCCTCCTGTCGGCCGAAGCTGCCGCCCCTCCTCCCAACCGGCGGGTCAGATCTCGCTCCCTTTCGGACAACTTACCTCGGAGAGGAGTCAAGGGGAGAGGGGAGGGGAGGGGGGGAGGGGGCAAGAGAGAGAGGGGGGAGAAGAGGGATCTTCTCGCTTATTTCATTGTTCCCCCATCTTCAGGGAGCGGGGGCAGCGGCTCCTCAAGGCGGCGGGCGCCGGCGTCTTCAGAGCGCCATGCGAACCGCGGAGCGAGTGTGGCATCTCTACCAGGCGGGGTACCAGCCTCTATGCCAGGCCATATGGGCTTGGCACGTCACGGGCAGCAGCTATCACATGAGAGACGGTGATTGGCATGCGTCTGCACTGGGGGAGAGCCGGCTCCCCCGGGACCCGCCGCCATCTGTCACTCTCTACTCCAAAAAAAAAAAAAAAAATTAAATAAATAAAGGAAATAAATAAATATTTCTGCCGCCCTCCCCTCCCCGCCCAACGCAGGGAAAGCAGGGATTGAGAGGAAGGTGGGAGGAGTTGCCCCCTGTATATAGAGACCCCCTCACGGGAACAATGGGGTGGCAAGGCTGGACACTGGGGGCTCGTGGTGGCC
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Task1_train_24215
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Gene TCAP (titin-cap) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Hypertrophic cardiomyopathy 25
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GGGCCAGGCCACTGCCTGCCTTCCTCCTCCCTCCCGGCTGGCCTGCCCCCTTGCCTGCCTGCATGCAGGCTTCCAGCAGAGCCAGCTTCTTCAGAGCCAGGTGGATCCTGTTTCGGTCCTGCCTAGGTGTGTGACCCTGGGCGAATCTACCTCTCTCAGCTTCTGCTTCCCACTTTATGAAAATGGGACTGATGTCACAGGGTTGTTATGAGATTAAAAGATATGAAGAACCGGGGACAGTGCTCAGTAATCAATAGTCTGCAGTTCTGCACCCACGTGCTCCTGGGTACTCTGCCGTCCCCACAGGGTCCTCAGCTCAGCCCCTGTCACTGCCTCTCCTGCCACCCTTTGTCCACTCGGCAGTGTTCTCACTCCTCATCCCCCCACACCCACCACCTGTCTGCCAGCCTCTTGCACCATGAGTTGCTACTCCTGGGGTGCTGGACTGTCCCCACAGCCATCTGTCTCCCCTGCTCCCCATGAAGAAGAGCCAGTCCCCTCCCAGGTAGCACATCAGAGCGGGCAGGCTCCAGAGCTCTTCTGGTCCTCTTGCAGTGGCCAGAAAGTGGGGAAAGGGGCCCAGAGAGGGGCAGGGACTGACCCATGGTCACACAGCCTATTTATGGCTGATCTGGAGCCAGGCCTTCTGACTATCACCCATCAGAGCCCCTGGATTCCCATTTCACCCAACACAGGTGTTGGGGTAGAACTGGGGGCCCTCCACCCCTACTAGCCTGACTGTCTCCTGAGACCTGTCTCCTAAGACCACTTACCTGACCACTGGCCATGGGGAAGGAAAACACCTGGCCAAGGCTCATGCCCCAGGTTCCCAGGCATGAAGTTGACTGTCTCCGCCCCTGCTGGTGTGGTGAGGGTGACTGGGGACTAGGCACTAGGCCTTTGGTGCAGGCGCCTGAGGACGTGGTTGCACTCTCCCTTCTGGGGATATGCCCTTGAGCCCAGGCAGAGGAGAGCACAGCCAGGGCAGGACCTGGCAGCCCTGGTACAGAGCCCAGAGGGGGCATCAGTTCCTGCTGGTCCTGCTCTGTTTACAGACAAGCTGCTGTCCTCCCTGCAAAGGGGAGTGGGTGGGGCAGAGGGCAAGTGCCAGGGGGGCACAAGGCTGGGCATGTGGCTGGCATGAGACGGTGTCTGAGTAATGTCAGGCACCTGGAGGCATTGACCCCAGGACCTTGGACCCCAGACCTCTGACCGGGGGGCAGCCAGCGTCCAGGTACCCCAACCCCTGCCCTGGGTCCGGCGTCCCCCCATTAGTGAGTCTTGGCTCTACTTATAGCATCTGACACCAGAGGGGCCGAAAATAGCCCCTGGAGAAGGGGGAGGAGGGGGCTATTTAAAGGGCCTGGGAGGGGAGAGAGAATGAGGAGTGATCATGGCTACCTCAGAGCTGAGCTGCGAGGTGTCGGAGGAGAACTGTGAGCGCCGGGAGGCCTTCTGGGCAGAATGGAAGGATCTGACACTGTCCACACGGCCCGAGGAGGGGTGAGTGTGGGTCTGCTAGAGCCCTGCCTCTGCTCCCCCAGAGCACCCTCACTGAGCCATGAGGCCAGAGCATGAAGCCCTGGAGAAATTTCTGGGGGTGGGGGCAGGAAGAATGCCCCATGGGGAGAGCAAAGGGGAACCACCCTTCCTGCCCCCAGGTCCCAGCAGCCCAGGGGAGCCCCCCACCCAGCCTGTGCCCAGAGAGCAACAGCTCCCAGGAGCTCACTGCCCCTCCCCTCTCCCCAGCTGCTCCCTGCATGAGGAGGACACCCAGAGACATGAGACCTACCACCAGCAGGGGCAGTGCCAGGTGCTGGTGCAGCGCTCGCCCTGGCTGATGATGCGGATGGGCATCCTCGGCCGTGGGCTGCAGGAGTACCAGCTGCCCTACCAGCGGGTACTGCCGCTGCCCATCTTCACCCCTGCCAAGATGGGCGCCACCAAGGAGGAGCGTGAGGACACCCCCATCCAGCTTCAGGAGCTGCTGGCGCTGGAGACAGCCCTGGGTGGCCAGTGTGTGGACCGCCAGGAGGTGGCTGAGATCACAAAGCAGCTGCCCCCTGTGGTGCCTGTCAGCAAGCCCGGTGCACTTCGTCGCTCCCTGTCCCGCTCCATGTCCCAGGAAGCACAGAGAGGCTGAGAGGGACTGTGACTTGGGCTCCGCTGTGCCCGCCCTGGGCTGGGCCCTTCCTGGCTAGGACTGTGGAGGGGAGCTGCTGGCCATGGCTGCTTTGTAGTTTGCCCAGAGTTGGGGGCTAGGGGAGGGGGGAGCCAGAGGCCAGGATGCCTGAGCCCCCTGAGTTCCCAAAGGGAGGGTGGCAGAGACAGTGGGCACTAAGGGTGGAGAGTTGGGGGCCAGCACAGCTGAGGACCCTCAGCCCCAGGAGAAGGGACAAAAGGTACTGGTGAGGGCAAGAGGTGCCTGGGAGGAGTGGCCCTGATCCAGGAAAATGTGAGGGGAATCTGGAACGCTCTAGGCAGAAGAAGCTGGGAGGGAGGGGGAGGTGAAAAGGGCAGAGGCAAGGATGGTGGGGCCCCCAGCACCCTCTGTTAGTGCCGCAATAAATGCTCAATCATGTGCCAGAGTTGCATCTCTTTCCTTGTGGTTGGGGGGGCTGGCCCATGGGTGTCCCCTCAATGCCCACTTCTGGGACCAGGCTCCGCATCTGAGCTAAATATGGCAGAGCTAATGGGTACACCCCATACTTGGGGTGGGGGTGGGGGCAGGACAGAGCTGTAAACAGGGTGCTGTCTCCAGTCTCCTTCCCGTACCCTGACCGCTGCCCAGTCCTGGCTTCTGTGTCCAGCCCCCTGGCACTGGGTGGTAACCAGCAAGCCAGCTGGCATCCGCATCCAGGGTTTGTTTCAATGATGTCTCGTGGAGAATATGGAGGGGCTGGTGCCAGGACTGTCCTTGGCTTTGCCTCGGGGTGTGAACGGGGTCAGTGACCTCTAAAACTAACCTGCCTCTCAGTTCTGAATCCAGACAGAATCAATCCTCAGCTGTGTCTCGCTCCACACCCCCTGCCCTGGAAGCCAGGGAAGGTTGGAGGTGCTAGGGGGTCAGGCTCCCCTCTGTGACCCCTGCAGCTGTTGTGGTGACTCATGTCCCAACCTAGCTGCCTCTCCCAAGGAGACTTTCCCCTGGGGACAAGGGGGAGGGAATGGCATGGAGGAGGCCCACATCAAGCGGGGCCAGGAACCCACGGTGGCAGGAGCTGGGCTGGTGACCTACCCAGGGCAGAAGGGCCCGGGACTCATCCAGAGGGGAAGGAAGGGGTCTTCAGGAAGACCACGGAGATGCCACAGGCAGAATTGGCTTCCCATCTGGGAGATAGGTGGGGAGACCCTGGCATTTTGACAGCCAGAACCTGGGGTGCTGAGCAGAATCTTCATGCCTGGCCTGGCCGCTCCTTCGGAGGGAAGCTGGAGGGTGGGCTGCGAGAGGAGTGGGGTCAGAGCCCCTACATCCGCAGGACCCCAAATCGGCTGGGCCCCAAGGCCCGGACTGCGCTCCCCGGTGGCCCCGGCGGCCCTCCGCGAATGCGTCCTGCCCCTCCCCTGCCCAAGCCCTCTGCCCTCACCCGGGTCCGGCGCCGCCCCCGAAGTGGCGGGAACAACCCGAACCCGAACCTTCTGTCCTCGGGAGCCCCCAGATAAGCGGCTGGGAACCCGCGGGGCCCGCAGGGGAGGCCCGGCTGTTCCGCCCGCTAAGTGCATTAGCACAGCTCACCTCCCCTATCGCGCCTGCCATCGGACGGGCAGTGCCGCGCCCTGCTCTGGGGCCCCCGGAGCGACCACAGCGGAGGCCGGAACGGACTGTCCTTTCTGGGGCGGGGTGGGGAGGGGGTGTCGCTGGAGGGCCCGGTGGCATAGCAACGGACGAGAGAGGCCTGGAGGAGGGGCGGGGAGGGGGAGTTGTGTGGCAGTTCTAAGGGAAGGGTGGGTGCTGGGACGGGTGTCCGGGAGGGAGGGGAGCCTGGCGGGGTCTGGGGCCTCGTCGCGGAGGGCGCTGCGAGGGGGAAACTGGGGAAAGGGCCTAATTCCCCAGTCTCCACCTCGAATCAGGAAAGAGAAGGGGCGGGCTGCTGGG
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GGGCCAGGCCACTGCCTGCCTTCCTCCTCCCTCCCGGCTGGCCTGCCCCCTTGCCTGCCTGCATGCAGGCTTCCAGCAGAGCCAGCTTCTTCAGAGCCAGGTGGATCCTGTTTCGGTCCTGCCTAGGTGTGTGACCCTGGGCGAATCTACCTCTCTCAGCTTCTGCTTCCCACTTTATGAAAATGGGACTGATGTCACAGGGTTGTTATGAGATTAAAAGATATGAAGAACCGGGGACAGTGCTCAGTAATCAATAGTCTGCAGTTCTGCACCCACGTGCTCCTGGGTACTCTGCCGTCCCCACAGGGTCCTCAGCTCAGCCCCTGTCACTGCCTCTCCTGCCACCCTTTGTCCACTCGGCAGTGTTCTCACTCCTCATCCCCCCACACCCACCACCTGTCTGCCAGCCTCTTGCACCATGAGTTGCTACTCCTGGGGTGCTGGACTGTCCCCACAGCCATCTGTCTCCCCTGCTCCCCATGAAGAAGAGCCAGTCCCCTCCCAGGTAGCACATCAGAGCGGGCAGGCTCCAGAGCTCTTCTGGTCCTCTTGCAGTGGCCAGAAAGTGGGGAAAGGGGCCCAGAGAGGGGCAGGGACTGACCCATGGTCACACAGCCTATTTATGGCTGATCTGGAGCCAGGCCTTCTGACTATCACCCATCAGAGCCCCTGGATTCCCATTTCACCCAACACAGGTGTTGGGGTAGAACTGGGGGCCCTCCACCCCTACTAGCCTGACTGTCTCCTGAGACCTGTCTCCTAAGACCACTTACCTGACCACTGGCCATGGGGAAGGAAAACACCTGGCCAAGGCTCATGCCCCAGGTTCCCAGGCATGAAGTTGACTGTCTCCGCCCCTGCTGGTGTGGTGAGGGTGACTGGGGACTAGGCACTAGGCCTTTGGTGCAGGCGCCTGAGGACGTGGTTGCACTCTCCCTTCTGGGGATATGCCCTTGAGCCCAGGCAGAGGAGAGCACAGCCAGGGCAGGACCTGGCAGCCCTGGTACAGAGCCCAGAGGGGGCATCAGTTCCTGCTGGTCCTGCTCTGTTTACAGACAAGCTGCTGTCCTCCCTGCAAAGGGGAGTGGGTGGGGCAGAGGGCAAGTGCCAGGGGGGCACAAGGCTGGGCATGTGGCTGGCATGAGACGGTGTCTGAGTAATGTCAGGCACCTGGAGGCATTGACCCCAGGACCTTGGACCCCAGACCTCTGACCGGGGGGCAGCCAGCGTCCAGGTACCCCAACCCCTGCCCTGGGTCCGGCGTCCCCCCATTAGTGAGTCTTGGCTCTACTTATAGCATCTGACACCAGAGGGGCCGAAAATAGCCCCTGGAGAAGGGGGAGGAGGGGGCTATTTAAAGGGCCTGGGAGGGGAGAGAGAATGAGGAGTGATCATGGCTACCTCAGAGCTGAGCTGCGAGGTGTCGGAGGAGAACTGTGAGCGCCGGGAGGCCTTCTGGGCAGAATGGAAGGATCTGACACTGTCCACACGGCCCGAGGAGGGGTGAGTGTGGGTCTGCTAGAGCCCTGCCTCTGCTCCCCCAGAGCACCCTCACTGAGCCATGAGGCCAGAGCATGAAGCCCTGGAGAAATTTCTGGGGGTGGGGGCAGGAAGAATGCCCCATGGGGAGAGCAAAGGGGAACCACCCTTCCTGCCCCCAGGTCCCAGCAGCCCAGGGGAGCCCCCCACCCAGCCTGTGCCCAGAGAGCAACAGCTCCCAGGAGCTCACTGCCCCTCCCCTCTCCCCAGCTGCTCCCTGCATGAGGAGGACACCCAGAGACATGAGACCTACCACCAGCAGGGGCAGTGCCAGGTGCTGGTGCAGCGCTCGCCCTGGCTGATGATGCGGATGGGCATCCTCGGCCGTGGGCTGCAGGAGTACCAGCTGCCCTACCAGCGGGTACTGCCGCTGCCCATCTTCACCCCTGCCAAGATGGGCGCCACCAAGGAGGAGCGTGAGGACACCCCCATCCAGCTTCAGGAGCTGCTGGCGCTGGAGACAGCCCTGGGTGGCCAGTGTGTGGACCGCCAGGAGGTGGCTGAGATCATAAAGCAGCTGCCCCCTGTGGTGCCTGTCAGCAAGCCCGGTGCACTTCGTCGCTCCCTGTCCCGCTCCATGTCCCAGGAAGCACAGAGAGGCTGAGAGGGACTGTGACTTGGGCTCCGCTGTGCCCGCCCTGGGCTGGGCCCTTCCTGGCTAGGACTGTGGAGGGGAGCTGCTGGCCATGGCTGCTTTGTAGTTTGCCCAGAGTTGGGGGCTAGGGGAGGGGGGAGCCAGAGGCCAGGATGCCTGAGCCCCCTGAGTTCCCAAAGGGAGGGTGGCAGAGACAGTGGGCACTAAGGGTGGAGAGTTGGGGGCCAGCACAGCTGAGGACCCTCAGCCCCAGGAGAAGGGACAAAAGGTACTGGTGAGGGCAAGAGGTGCCTGGGAGGAGTGGCCCTGATCCAGGAAAATGTGAGGGGAATCTGGAACGCTCTAGGCAGAAGAAGCTGGGAGGGAGGGGGAGGTGAAAAGGGCAGAGGCAAGGATGGTGGGGCCCCCAGCACCCTCTGTTAGTGCCGCAATAAATGCTCAATCATGTGCCAGAGTTGCATCTCTTTCCTTGTGGTTGGGGGGGCTGGCCCATGGGTGTCCCCTCAATGCCCACTTCTGGGACCAGGCTCCGCATCTGAGCTAAATATGGCAGAGCTAATGGGTACACCCCATACTTGGGGTGGGGGTGGGGGCAGGACAGAGCTGTAAACAGGGTGCTGTCTCCAGTCTCCTTCCCGTACCCTGACCGCTGCCCAGTCCTGGCTTCTGTGTCCAGCCCCCTGGCACTGGGTGGTAACCAGCAAGCCAGCTGGCATCCGCATCCAGGGTTTGTTTCAATGATGTCTCGTGGAGAATATGGAGGGGCTGGTGCCAGGACTGTCCTTGGCTTTGCCTCGGGGTGTGAACGGGGTCAGTGACCTCTAAAACTAACCTGCCTCTCAGTTCTGAATCCAGACAGAATCAATCCTCAGCTGTGTCTCGCTCCACACCCCCTGCCCTGGAAGCCAGGGAAGGTTGGAGGTGCTAGGGGGTCAGGCTCCCCTCTGTGACCCCTGCAGCTGTTGTGGTGACTCATGTCCCAACCTAGCTGCCTCTCCCAAGGAGACTTTCCCCTGGGGACAAGGGGGAGGGAATGGCATGGAGGAGGCCCACATCAAGCGGGGCCAGGAACCCACGGTGGCAGGAGCTGGGCTGGTGACCTACCCAGGGCAGAAGGGCCCGGGACTCATCCAGAGGGGAAGGAAGGGGTCTTCAGGAAGACCACGGAGATGCCACAGGCAGAATTGGCTTCCCATCTGGGAGATAGGTGGGGAGACCCTGGCATTTTGACAGCCAGAACCTGGGGTGCTGAGCAGAATCTTCATGCCTGGCCTGGCCGCTCCTTCGGAGGGAAGCTGGAGGGTGGGCTGCGAGAGGAGTGGGGTCAGAGCCCCTACATCCGCAGGACCCCAAATCGGCTGGGCCCCAAGGCCCGGACTGCGCTCCCCGGTGGCCCCGGCGGCCCTCCGCGAATGCGTCCTGCCCCTCCCCTGCCCAAGCCCTCTGCCCTCACCCGGGTCCGGCGCCGCCCCCGAAGTGGCGGGAACAACCCGAACCCGAACCTTCTGTCCTCGGGAGCCCCCAGATAAGCGGCTGGGAACCCGCGGGGCCCGCAGGGGAGGCCCGGCTGTTCCGCCCGCTAAGTGCATTAGCACAGCTCACCTCCCCTATCGCGCCTGCCATCGGACGGGCAGTGCCGCGCCCTGCTCTGGGGCCCCCGGAGCGACCACAGCGGAGGCCGGAACGGACTGTCCTTTCTGGGGCGGGGTGGGGAGGGGGTGTCGCTGGAGGGCCCGGTGGCATAGCAACGGACGAGAGAGGCCTGGAGGAGGGGCGGGGAGGGGGAGTTGTGTGGCAGTTCTAAGGGAAGGGTGGGTGCTGGGACGGGTGTCCGGGAGGGAGGGGAGCCTGGCGGGGTCTGGGGCCTCGTCGCGGAGGGCGCTGCGAGGGGGAAACTGGGGAAAGGGCCTAATTCCCCAGTCTCCACCTCGAATCAGGAAAGAGAAGGGGCGGGCTGCTGGG
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Task1_train_24216
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The gene PGAP3 (post-GPI attachment to proteins phospholipase 3) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Hyperphosphatasia with intellectual disability syndrome 4
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GGACCTGCCCCTGCCGCCACAACTGTCTTCTCCTGCCCTCCAGCCCACCCTATTCACACAAATGAGCTGAACAAGGGCAGGTGAGGCTTGGAATTGATTTATTAAGCACATCCCTTGCCACCCTCCCACCTTAAAAGTTTTCAGTATCAAAAGAAGCTAGCGCAGGCCACCCGAGTCCCTGAGGTTGGAGTCCTAGCATAGCTCCCCTCCCTCAAAGAGGGACAAGGGGTCAGGGGCAGAGCAAAAATCCAGTCTGCTTCAACCACGGAGACTGCCTTTGGGATGGAAAGTTTCTGGAGCTCCCTCCATTCTATTCCTGTGGGGCAGGAACATGCCAGGGCTGCTGGTAAATGGCAGGGGTCACCTTTACCAGGGCGCAGGCATAGTGTGGCCCCTGCCTGCCCTGGGGCCACCCTGGAACAGTAAGACCCTCTGGGAAGGGAAGAAACCAGACCCAGCCATAAGCTTTCTCCCCTTCTCCCTCAAATCGCCCCTTCCTCCTCCCCAAAATCAGGCTATGGCAAAGGGGCTGGCAGCAGGGGAATGGAGGTTTTGGAGGGGAAGGCCAGCCATGCGAAGGCAAGGAGAAAAGGAGGATGGAGAGAGCCCCAGCCATCCCCATTTTCCTTCCTCTGCCTCCGAGGGGCTGCTTCTGGAGGGCACTGTTGTGTGGGGACCCTGTGAGGTTTGCAGGAGGCGGGCAAAGGGGCACCAGACAGGGAACATGCACACAGGCAGCCTGGCCATGGAGAGCTCCTGGCTGTCCGCCCAGGTGGCGCCTTGGGCAGAGCTGGCGCTCCACAAGTGATTATTGATGGTGACAGGATTCCCTCATCCTGCTCCAACCTCTCAACTGTGGACACATTCACCGGCAGTCACTCATCTCACATGCCCACCAGCACGCGCACACACGTTCCCCTAACCCACGCTAACACACCCACCCCCTGCACACACACACTTTGAAGCCACACCTCTTCCCCGACAACACCCGTCTCCACACTGCGCACCTAGGCCTGAGCTCACACACACCCAGGCCCATGCTCACGGCCCTGTCACCTATGCACTCAGCCTGGCCCACACTCCCGACACACGGTGGCAGGCTCTCAACCAGACAGCAGCACAGGATCCTTGCCCTGGGCTTGCTGGAGCCCTGGCCCTGAAAGGGAGTATGGTGAGGCCTCCTGGGAACCTGGCTAGGGCAATGGTCAGGGTGAAACTCCTTCCCAATCCCAGCAGCTTGGTCCCTCAAGATCCCATGGGGAGAATCGCCGTGAACCTTGGCTGGCCAAAGAACAAGCATCCAGCACCACCTAGTGGTGTCCTGGAGGAGGGTGGGGGGTGGTAACAGAAGGGGACCCCCTGTATCCCTAAGGCCTGTGGTCCCTGGTCTCCCAGGTAGACAGAGGGCTTCAGGACCCAGCCAGGCAGCTGGGGATGTGGGGAGGAGGCTGATGGGGAGGAAACAGGCAGCTGTCCTCCCGGTAGAGCTAAGAGCACACTCAGTTCCACCCCAGTTCAGCTCCAGGAGGTAGAGGGGCTGCCCACTCTCGAGTCCCAGATGCTGGGAGGCCTTCCCTAGAACAGACTCCAAGGCTGGTGAGGGCCAACAGGGGGTGGGCTGGCCACATGATTCTGGGCCCACATCCTTCATGTCCAAGTTCAAGAAGTTGAAAAGAGAAAATCATCTCAAGGGTTGAGGGGAGAAGGGAGGCCAGCAGGGCGGGGGCAGGATCCCCACTGGGGCAGACTCGCTCCAAGGTCTTCAGTCCAGCTTGAACTTGTCCTCTGATTCCTTCAGCAGGTACAGGCTGTCATCTTCCAGAAAGCTGTGGGCCAAAGGAGTAGCCCATTGAGGCACACAGCTCTGACAGCTCGCATGGAGACAAGGGTGGGGTGCATGCAGGCAAGGTGGGAGGGGGCGGATGGGCACACAGAGCCCCCAATCTCCCCTAAGGAGTGGGCAAGGAAGGGTCCAAAGAAGGTGAGCACCAGGCAGGGGGCAGCACCCACCTGAAAAAGAGGACGTGGACAGGGATGGTGCTGATGTGCCAGATGGCATGGGCATCCAGGACCCAGAAGAGCGGTGGGAAGTCAAGCAGCTCGAGCAGGGACAGCCCCTGCAGCAGCAAGACCACCACCACGCACTTGCGCACGTGAGGCAGCCGCCGCTGGTTCCACAGGCACCAGGCCAGCCACCACACCACGTTGACCAGGCCTGGGTGCCAGTGGGGGCAGGAGAGACTCATTCCTTCGGCTCCTTCTCCCCAAGGCCACCCCCAACTCCATGCTCTCTGACCCCAGGATCATCCTCGGACTCTCCTCCCAGCCTCCTCTCTCTCCCACCTCAAATTCTTCTCCATTCCTCTACCCCAAGAGTCTCTCTAGAACCTCCTTCTCCAGGAATGGCACCAACCTCCCACTCGCACCCCAAGCTAGCACTTCTGCAGATGGCCCAAGCCCCCCAGGGCCTCACCAATAGCCACGTTGGCCACCAGGTTGTAGCCATAGTCGAAGCGGATGAGGCTCAGGTAGGAGACGTGCACGGTCAGCATGAGCAGCAGGAGAGCCCGGAAGGCACTGACCACAGCTGGGTGCTGCAGCCCCACGGTCCTGCCCCACCGTCCAGGGTTGCTCAGAGGGCAGGTGGCCCATCCCCAGAGCAGCATTCCCTGAAGCATCTCCTCCCCCCAACATTGGTGCATGGCCCCTGAAGTCACTACCCCTCTCCCCACCAAACAGGCCACAGCTGGGCAGCAAGTGCTACAGCTCCTTGTCAGGAGCCAGGGCCCCCAGTCCTACCCCAGAGTCCTCACCCAGGACAGCTGATGTGTTGGGGGTTGGGGGGCGTAGGTGTTGGGAGACTAGTGAAGAAGGCCCCCAGGGGAAGGCTGGGTGACCCCTTTCTGCCCCCAGGGTTCGATTTTGCCCCTGCAGCCACCCAGGCAGGCTCACCTGACGCAGCACAGGTAGATTGAGTGTAGGATGACAGTGGAGGCACAGAAGTAGTCCATTTTCTGAGGACAGGGAAGGGTGGTGAGGGACCAGCATGAGGCTTCACGGAGAGGACCCGCGGGGATGGGGGCATGGAGGAGTGGCAGAGAGGGGCCGGGGTCCTGGGCCTGCCTATCACTGTTTCACTCTGACTGAGTCTTGTGTTCACATCACCATACAAGTTTTTAAAAATGTGCCCAGGAACAAGGCTTTAGGGACGCTGGTGGAGGGTTCCTGCTGAGGCTCCAGGACATGACCACGCTGCACAGAATTCAGAGCACAGTGTGGAGTCTGACAGCCATGGGGTCACGTCCTGTGGCAACCCTTCACTGGCTGGGTGCCCCTAAGCATGTGGTCCCCCTGTCGAAGGCTCAGCTGCCTCATCAGGCAAGAAGAGCGAATACTCATCCCCACCTGATGAGGCTCACTGAGGATCAAGGGCACCAACAGGTTTAGGATGCCCACCCCATACTCCTCCCAGTGCTCCTCAGAGGGAGTTGGCATGACCCTCTAGAGCCCCTCTGCCCACTTCTGGGCTCCTCTGGGACCACCCTGTGCAGGAGGGGGAGCTGGAGGAATGCTCACCTCTGTGAGGTCAGTGTCCCTGGTGTGGAAAACTGTGGACCAGAACCATGCATTGAGGGACACCTAAGGAGGGAGGGGCTGGTGAGCATGCTGCCCCCCACCCTGACCTCAAGGCAGGGACCCCCATTTGCTCACATCCATTTCACCTTTGGGAAGGGGCTCTGCAGGACAAGAAATGTGCTTTTCCTGCCCCTGGAGCCCTCTGAACAAACCTATGTCCCTCTACCCCCACCCAGCCAGGGTCCCTGGGGTGGACTTCCTGCCACCCCAAACCCCCAAGGCCACGGGGGGCTGCAGCCTCCACAGGTTCCGGCCTGGCCTGGGAACCAGTTCCGGTATAGCCAAGCTCCCTAGTTACTCAATTGCTAAGACAACAGCCCCCAGGGGCCTTGCCTCCTCCTCCAACCGGCAGGTGTTGACAGCACCACCCCACCCGGGCCCAGGGGAGCCAGTGACCTCAGCCTCTGGGGGCGGGAATGAGGTGGGTGGGGTGGAGGGGCTCGAGCCAGCTTGGGGTGTG
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GGACCTGCCCCTGCCGCCACAACTGTCTTCTCCTGCCCTCCAGCCCACCCTATTCACACAAATGAGCTGAACAAGGGCAGGTGAGGCTTGGAATTGATTTATTAAGCACATCCCTTGCCACCCTCCCACCTTAAAAGTTTTCAGTATCAAAAGAAGCTAGCGCAGGCCACCCGAGTCCCTGAGGTTGGAGTCCTAGCATAGCTCCCCTCCCTCAAAGAGGGACAAGGGGTCAGGGGCAGAGCAAAAATCCAGTCTGCTTCAACCACGGAGACTGCCTTTGGGATGGAAAGTTTCTGGAGCTCCCTCCATTCTATTCCTGTGGGGCAGGAACATGCCAGGGCTGCTGGTAAATGGCAGGGGTCACCTTTACCAGGGCGCAGGCATAGTGTGGCCCCTGCCTGCCCTGGGGCCACCCTGGAACAGTAAGACCCTCTGGGAAGGGAAGAAACCAGACCCAGCCATAAGCTTTCTCCCCTTCTCCCTCAAATCGCCCCTTCCTCCTCCCCAAAATCAGGCTATGGCAAAGGGGCTGGCAGCAGGGGAATGGAGGTTTTGGAGGGGAAGGCCAGCCATGCGAAGGCAAGGAGAAAAGGAGGATGGAGAGAGCCCCAGCCATCCCCATTTTCCTTCCTCTGCCTCCGAGGGGCTGCTTCTGGAGGGCACTGTTGTGTGGGGACCCTGTGAGGTTTGCAGGAGGCGGGCAAAGGGGCACCAGACAGGGAACATGCACACAGGCAGCCTGGCCATGGAGAGCTCCTGGCTGTCCGCCCAGGTGGCGCCTTGGGCAGAGCTGGCGCTCCACAAGTGATTATTGATGGTGACAGGATTCCCTCATCCTGCTCCAACCTCTCAACTGTGGACACATTCACCGGCAGTCACTCATCTCACATGCCCACCAGCACGCGCACACACGTTCCCCTAACCCACGCTAACACACCCACCCCCTGCACACACACACTTTGAAGCCACACCTCTTCCCCGACAACACCCGTCTCCACACTGCGCACCTAGGCCTGAGCTCACACACACCCAGGCCCATGCTCACGGCCCTGTCACCTATGCACTCAGCCTGGCCCACACTCCCGACACACGGTGGCAGGCTCTCAACCAGACAGCAGCACAGGATCCTTGCCCTGGGCTTGCTGGAGCCCTGGCCCTGAAAGGGAGTATGGTGAGGCCTCCTGGGAACCTGGCTAGGGCAATGGTCAGGGTGAAACTCCTTCCCAATCCCAGCAGCTTGGTCCCTCAAGATCCCATGGGGAGAATCGCCGTGAACCTTGGCTGGCCAAAGAACAAGCATCCAGCACCACCTAGTGGTGTCCTGGAGGAGGGTGGGGGGTGGTAACAGAAGGGGACCCCCTGTATCCCTAAGGCCTGTGGTCCCTGGTCTCCCAGGTAGACAGAGGGCTTCAGGACCCAGCCAGGCAGCTGGGGATGTGGGGAGGAGGCTGATGGGGAGGAAACAGGCAGCTGTCCTCCCGGTAGAGCTAAGAGCACACTCAGTTCCACCCCAGTTCAGCTCCAGGAGGTAGAGGGGCTGCCCACTCTCGAGTCCCAGATGCTGGGAGGCCTTCCCTAGAACAGACTCCAAGGCTGGTGAGGGCCAACAGGGGGTGGGCTGGCCACATGATTCTGGGCCCACATCCTTCATGTCCAAGTTCAAGAAGTTGAAAAGAGAAAATCATCTCAAGGGTTGAGGGGAGAAGGGAGGCCAGCAGGGCGGGGGCAGGATCCCCACTGGGGCAGACTCGCTCCAAGGTCTTCAGTCCAGCTTGAACTTGTCCTCTGATTCCTTCAGCAGGTACAGGCTGTCATCTTCCAGAAAGCTGTGGGCCAAAGGAGTAGCCCATTGAGGCACACAGCTCTGACAGCTCGCATGGAGACAAGGGTGGGGTGCATGCAGGCAAGGTGGGAGGGGGCGGATGGGCACACAGAGCCCCCAATCTCCCCTAAGGAGTGGGCAAGGAAGGGTCCAAAGAAGGTGAGCACCAGGCAGGGGGCAGCACCCACCTGAAAAAGAGGACGTGGACAGGGATGGTGCTGATGTGACAGATGGCATGGGCATCCAGGACCCAGAAGAGCGGTGGGAAGTCAAGCAGCTCGAGCAGGGACAGCCCCTGCAGCAGCAAGACCACCACCACGCACTTGCGCACGTGAGGCAGCCGCCGCTGGTTCCACAGGCACCAGGCCAGCCACCACACCACGTTGACCAGGCCTGGGTGCCAGTGGGGGCAGGAGAGACTCATTCCTTCGGCTCCTTCTCCCCAAGGCCACCCCCAACTCCATGCTCTCTGACCCCAGGATCATCCTCGGACTCTCCTCCCAGCCTCCTCTCTCTCCCACCTCAAATTCTTCTCCATTCCTCTACCCCAAGAGTCTCTCTAGAACCTCCTTCTCCAGGAATGGCACCAACCTCCCACTCGCACCCCAAGCTAGCACTTCTGCAGATGGCCCAAGCCCCCCAGGGCCTCACCAATAGCCACGTTGGCCACCAGGTTGTAGCCATAGTCGAAGCGGATGAGGCTCAGGTAGGAGACGTGCACGGTCAGCATGAGCAGCAGGAGAGCCCGGAAGGCACTGACCACAGCTGGGTGCTGCAGCCCCACGGTCCTGCCCCACCGTCCAGGGTTGCTCAGAGGGCAGGTGGCCCATCCCCAGAGCAGCATTCCCTGAAGCATCTCCTCCCCCCAACATTGGTGCATGGCCCCTGAAGTCACTACCCCTCTCCCCACCAAACAGGCCACAGCTGGGCAGCAAGTGCTACAGCTCCTTGTCAGGAGCCAGGGCCCCCAGTCCTACCCCAGAGTCCTCACCCAGGACAGCTGATGTGTTGGGGGTTGGGGGGCGTAGGTGTTGGGAGACTAGTGAAGAAGGCCCCCAGGGGAAGGCTGGGTGACCCCTTTCTGCCCCCAGGGTTCGATTTTGCCCCTGCAGCCACCCAGGCAGGCTCACCTGACGCAGCACAGGTAGATTGAGTGTAGGATGACAGTGGAGGCACAGAAGTAGTCCATTTTCTGAGGACAGGGAAGGGTGGTGAGGGACCAGCATGAGGCTTCACGGAGAGGACCCGCGGGGATGGGGGCATGGAGGAGTGGCAGAGAGGGGCCGGGGTCCTGGGCCTGCCTATCACTGTTTCACTCTGACTGAGTCTTGTGTTCACATCACCATACAAGTTTTTAAAAATGTGCCCAGGAACAAGGCTTTAGGGACGCTGGTGGAGGGTTCCTGCTGAGGCTCCAGGACATGACCACGCTGCACAGAATTCAGAGCACAGTGTGGAGTCTGACAGCCATGGGGTCACGTCCTGTGGCAACCCTTCACTGGCTGGGTGCCCCTAAGCATGTGGTCCCCCTGTCGAAGGCTCAGCTGCCTCATCAGGCAAGAAGAGCGAATACTCATCCCCACCTGATGAGGCTCACTGAGGATCAAGGGCACCAACAGGTTTAGGATGCCCACCCCATACTCCTCCCAGTGCTCCTCAGAGGGAGTTGGCATGACCCTCTAGAGCCCCTCTGCCCACTTCTGGGCTCCTCTGGGACCACCCTGTGCAGGAGGGGGAGCTGGAGGAATGCTCACCTCTGTGAGGTCAGTGTCCCTGGTGTGGAAAACTGTGGACCAGAACCATGCATTGAGGGACACCTAAGGAGGGAGGGGCTGGTGAGCATGCTGCCCCCCACCCTGACCTCAAGGCAGGGACCCCCATTTGCTCACATCCATTTCACCTTTGGGAAGGGGCTCTGCAGGACAAGAAATGTGCTTTTCCTGCCCCTGGAGCCCTCTGAACAAACCTATGTCCCTCTACCCCCACCCAGCCAGGGTCCCTGGGGTGGACTTCCTGCCACCCCAAACCCCCAAGGCCACGGGGGGCTGCAGCCTCCACAGGTTCCGGCCTGGCCTGGGAACCAGTTCCGGTATAGCCAAGCTCCCTAGTTACTCAATTGCTAAGACAACAGCCCCCAGGGGCCTTGCCTCCTCCTCCAACCGGCAGGTGTTGACAGCACCACCCCACCCGGGCCCAGGGGAGCCAGTGACCTCAGCCTCTGGGGGCGGGAATGAGGTGGGTGGGGTGGAGGGGCTCGAGCCAGCTTGGGGTGTG
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Task1_train_24217
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This gene mutation involves PGAP3 (post-GPI attachment to proteins phospholipase 3) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Hyperphosphatasia with intellectual disability syndrome 4
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CCACAACTGTCTTCTCCTGCCCTCCAGCCCACCCTATTCACACAAATGAGCTGAACAAGGGCAGGTGAGGCTTGGAATTGATTTATTAAGCACATCCCTTGCCACCCTCCCACCTTAAAAGTTTTCAGTATCAAAAGAAGCTAGCGCAGGCCACCCGAGTCCCTGAGGTTGGAGTCCTAGCATAGCTCCCCTCCCTCAAAGAGGGACAAGGGGTCAGGGGCAGAGCAAAAATCCAGTCTGCTTCAACCACGGAGACTGCCTTTGGGATGGAAAGTTTCTGGAGCTCCCTCCATTCTATTCCTGTGGGGCAGGAACATGCCAGGGCTGCTGGTAAATGGCAGGGGTCACCTTTACCAGGGCGCAGGCATAGTGTGGCCCCTGCCTGCCCTGGGGCCACCCTGGAACAGTAAGACCCTCTGGGAAGGGAAGAAACCAGACCCAGCCATAAGCTTTCTCCCCTTCTCCCTCAAATCGCCCCTTCCTCCTCCCCAAAATCAGGCTATGGCAAAGGGGCTGGCAGCAGGGGAATGGAGGTTTTGGAGGGGAAGGCCAGCCATGCGAAGGCAAGGAGAAAAGGAGGATGGAGAGAGCCCCAGCCATCCCCATTTTCCTTCCTCTGCCTCCGAGGGGCTGCTTCTGGAGGGCACTGTTGTGTGGGGACCCTGTGAGGTTTGCAGGAGGCGGGCAAAGGGGCACCAGACAGGGAACATGCACACAGGCAGCCTGGCCATGGAGAGCTCCTGGCTGTCCGCCCAGGTGGCGCCTTGGGCAGAGCTGGCGCTCCACAAGTGATTATTGATGGTGACAGGATTCCCTCATCCTGCTCCAACCTCTCAACTGTGGACACATTCACCGGCAGTCACTCATCTCACATGCCCACCAGCACGCGCACACACGTTCCCCTAACCCACGCTAACACACCCACCCCCTGCACACACACACTTTGAAGCCACACCTCTTCCCCGACAACACCCGTCTCCACACTGCGCACCTAGGCCTGAGCTCACACACACCCAGGCCCATGCTCACGGCCCTGTCACCTATGCACTCAGCCTGGCCCACACTCCCGACACACGGTGGCAGGCTCTCAACCAGACAGCAGCACAGGATCCTTGCCCTGGGCTTGCTGGAGCCCTGGCCCTGAAAGGGAGTATGGTGAGGCCTCCTGGGAACCTGGCTAGGGCAATGGTCAGGGTGAAACTCCTTCCCAATCCCAGCAGCTTGGTCCCTCAAGATCCCATGGGGAGAATCGCCGTGAACCTTGGCTGGCCAAAGAACAAGCATCCAGCACCACCTAGTGGTGTCCTGGAGGAGGGTGGGGGGTGGTAACAGAAGGGGACCCCCTGTATCCCTAAGGCCTGTGGTCCCTGGTCTCCCAGGTAGACAGAGGGCTTCAGGACCCAGCCAGGCAGCTGGGGATGTGGGGAGGAGGCTGATGGGGAGGAAACAGGCAGCTGTCCTCCCGGTAGAGCTAAGAGCACACTCAGTTCCACCCCAGTTCAGCTCCAGGAGGTAGAGGGGCTGCCCACTCTCGAGTCCCAGATGCTGGGAGGCCTTCCCTAGAACAGACTCCAAGGCTGGTGAGGGCCAACAGGGGGTGGGCTGGCCACATGATTCTGGGCCCACATCCTTCATGTCCAAGTTCAAGAAGTTGAAAAGAGAAAATCATCTCAAGGGTTGAGGGGAGAAGGGAGGCCAGCAGGGCGGGGGCAGGATCCCCACTGGGGCAGACTCGCTCCAAGGTCTTCAGTCCAGCTTGAACTTGTCCTCTGATTCCTTCAGCAGGTACAGGCTGTCATCTTCCAGAAAGCTGTGGGCCAAAGGAGTAGCCCATTGAGGCACACAGCTCTGACAGCTCGCATGGAGACAAGGGTGGGGTGCATGCAGGCAAGGTGGGAGGGGGCGGATGGGCACACAGAGCCCCCAATCTCCCCTAAGGAGTGGGCAAGGAAGGGTCCAAAGAAGGTGAGCACCAGGCAGGGGGCAGCACCCACCTGAAAAAGAGGACGTGGACAGGGATGGTGCTGATGTGCCAGATGGCATGGGCATCCAGGACCCAGAAGAGCGGTGGGAAGTCAAGCAGCTCGAGCAGGGACAGCCCCTGCAGCAGCAAGACCACCACCACGCACTTGCGCACGTGAGGCAGCCGCCGCTGGTTCCACAGGCACCAGGCCAGCCACCACACCACGTTGACCAGGCCTGGGTGCCAGTGGGGGCAGGAGAGACTCATTCCTTCGGCTCCTTCTCCCCAAGGCCACCCCCAACTCCATGCTCTCTGACCCCAGGATCATCCTCGGACTCTCCTCCCAGCCTCCTCTCTCTCCCACCTCAAATTCTTCTCCATTCCTCTACCCCAAGAGTCTCTCTAGAACCTCCTTCTCCAGGAATGGCACCAACCTCCCACTCGCACCCCAAGCTAGCACTTCTGCAGATGGCCCAAGCCCCCCAGGGCCTCACCAATAGCCACGTTGGCCACCAGGTTGTAGCCATAGTCGAAGCGGATGAGGCTCAGGTAGGAGACGTGCACGGTCAGCATGAGCAGCAGGAGAGCCCGGAAGGCACTGACCACAGCTGGGTGCTGCAGCCCCACGGTCCTGCCCCACCGTCCAGGGTTGCTCAGAGGGCAGGTGGCCCATCCCCAGAGCAGCATTCCCTGAAGCATCTCCTCCCCCCAACATTGGTGCATGGCCCCTGAAGTCACTACCCCTCTCCCCACCAAACAGGCCACAGCTGGGCAGCAAGTGCTACAGCTCCTTGTCAGGAGCCAGGGCCCCCAGTCCTACCCCAGAGTCCTCACCCAGGACAGCTGATGTGTTGGGGGTTGGGGGGCGTAGGTGTTGGGAGACTAGTGAAGAAGGCCCCCAGGGGAAGGCTGGGTGACCCCTTTCTGCCCCCAGGGTTCGATTTTGCCCCTGCAGCCACCCAGGCAGGCTCACCTGACGCAGCACAGGTAGATTGAGTGTAGGATGACAGTGGAGGCACAGAAGTAGTCCATTTTCTGAGGACAGGGAAGGGTGGTGAGGGACCAGCATGAGGCTTCACGGAGAGGACCCGCGGGGATGGGGGCATGGAGGAGTGGCAGAGAGGGGCCGGGGTCCTGGGCCTGCCTATCACTGTTTCACTCTGACTGAGTCTTGTGTTCACATCACCATACAAGTTTTTAAAAATGTGCCCAGGAACAAGGCTTTAGGGACGCTGGTGGAGGGTTCCTGCTGAGGCTCCAGGACATGACCACGCTGCACAGAATTCAGAGCACAGTGTGGAGTCTGACAGCCATGGGGTCACGTCCTGTGGCAACCCTTCACTGGCTGGGTGCCCCTAAGCATGTGGTCCCCCTGTCGAAGGCTCAGCTGCCTCATCAGGCAAGAAGAGCGAATACTCATCCCCACCTGATGAGGCTCACTGAGGATCAAGGGCACCAACAGGTTTAGGATGCCCACCCCATACTCCTCCCAGTGCTCCTCAGAGGGAGTTGGCATGACCCTCTAGAGCCCCTCTGCCCACTTCTGGGCTCCTCTGGGACCACCCTGTGCAGGAGGGGGAGCTGGAGGAATGCTCACCTCTGTGAGGTCAGTGTCCCTGGTGTGGAAAACTGTGGACCAGAACCATGCATTGAGGGACACCTAAGGAGGGAGGGGCTGGTGAGCATGCTGCCCCCCACCCTGACCTCAAGGCAGGGACCCCCATTTGCTCACATCCATTTCACCTTTGGGAAGGGGCTCTGCAGGACAAGAAATGTGCTTTTCCTGCCCCTGGAGCCCTCTGAACAAACCTATGTCCCTCTACCCCCACCCAGCCAGGGTCCCTGGGGTGGACTTCCTGCCACCCCAAACCCCCAAGGCCACGGGGGGCTGCAGCCTCCACAGGTTCCGGCCTGGCCTGGGAACCAGTTCCGGTATAGCCAAGCTCCCTAGTTACTCAATTGCTAAGACAACAGCCCCCAGGGGCCTTGCCTCCTCCTCCAACCGGCAGGTGTTGACAGCACCACCCCACCCGGGCCCAGGGGAGCCAGTGACCTCAGCCTCTGGGGGCGGGAATGAGGTGGGTGGGGTGGAGGGGCTCGAGCCAGCTTGGGGTGTGTTCCAAGCAGCAGGGG
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CCACAACTGTCTTCTCCTGCCCTCCAGCCCACCCTATTCACACAAATGAGCTGAACAAGGGCAGGTGAGGCTTGGAATTGATTTATTAAGCACATCCCTTGCCACCCTCCCACCTTAAAAGTTTTCAGTATCAAAAGAAGCTAGCGCAGGCCACCCGAGTCCCTGAGGTTGGAGTCCTAGCATAGCTCCCCTCCCTCAAAGAGGGACAAGGGGTCAGGGGCAGAGCAAAAATCCAGTCTGCTTCAACCACGGAGACTGCCTTTGGGATGGAAAGTTTCTGGAGCTCCCTCCATTCTATTCCTGTGGGGCAGGAACATGCCAGGGCTGCTGGTAAATGGCAGGGGTCACCTTTACCAGGGCGCAGGCATAGTGTGGCCCCTGCCTGCCCTGGGGCCACCCTGGAACAGTAAGACCCTCTGGGAAGGGAAGAAACCAGACCCAGCCATAAGCTTTCTCCCCTTCTCCCTCAAATCGCCCCTTCCTCCTCCCCAAAATCAGGCTATGGCAAAGGGGCTGGCAGCAGGGGAATGGAGGTTTTGGAGGGGAAGGCCAGCCATGCGAAGGCAAGGAGAAAAGGAGGATGGAGAGAGCCCCAGCCATCCCCATTTTCCTTCCTCTGCCTCCGAGGGGCTGCTTCTGGAGGGCACTGTTGTGTGGGGACCCTGTGAGGTTTGCAGGAGGCGGGCAAAGGGGCACCAGACAGGGAACATGCACACAGGCAGCCTGGCCATGGAGAGCTCCTGGCTGTCCGCCCAGGTGGCGCCTTGGGCAGAGCTGGCGCTCCACAAGTGATTATTGATGGTGACAGGATTCCCTCATCCTGCTCCAACCTCTCAACTGTGGACACATTCACCGGCAGTCACTCATCTCACATGCCCACCAGCACGCGCACACACGTTCCCCTAACCCACGCTAACACACCCACCCCCTGCACACACACACTTTGAAGCCACACCTCTTCCCCGACAACACCCGTCTCCACACTGCGCACCTAGGCCTGAGCTCACACACACCCAGGCCCATGCTCACGGCCCTGTCACCTATGCACTCAGCCTGGCCCACACTCCCGACACACGGTGGCAGGCTCTCAACCAGACAGCAGCACAGGATCCTTGCCCTGGGCTTGCTGGAGCCCTGGCCCTGAAAGGGAGTATGGTGAGGCCTCCTGGGAACCTGGCTAGGGCAATGGTCAGGGTGAAACTCCTTCCCAATCCCAGCAGCTTGGTCCCTCAAGATCCCATGGGGAGAATCGCCGTGAACCTTGGCTGGCCAAAGAACAAGCATCCAGCACCACCTAGTGGTGTCCTGGAGGAGGGTGGGGGGTGGTAACAGAAGGGGACCCCCTGTATCCCTAAGGCCTGTGGTCCCTGGTCTCCCAGGTAGACAGAGGGCTTCAGGACCCAGCCAGGCAGCTGGGGATGTGGGGAGGAGGCTGATGGGGAGGAAACAGGCAGCTGTCCTCCCGGTAGAGCTAAGAGCACACTCAGTTCCACCCCAGTTCAGCTCCAGGAGGTAGAGGGGCTGCCCACTCTCGAGTCCCAGATGCTGGGAGGCCTTCCCTAGAACAGACTCCAAGGCTGGTGAGGGCCAACAGGGGGTGGGCTGGCCACATGATTCTGGGCCCACATCCTTCATGTCCAAGTTCAAGAAGTTGAAAAGAGAAAATCATCTCAAGGGTTGAGGGGAGAAGGGAGGCCAGCAGGGCGGGGGCAGGATCCCCACTGGGGCAGACTCGCTCCAAGGTCTTCAGTCCAGCTTGAACTTGTCCTCTGATTCCTTCAGCAGGTACAGGCTGTCATCTTCCAGAAAGCTGTGGGCCAAAGGAGTAGCCCATTGAGGCACACAGCTCTGACAGCTCGCATGGAGACAAGGGTGGGGTGCATGCAGGCAAGGTGGGAGGGGGCGGATGGGCACACAGAGCCCCCAATCTCCCCTAAGGAGTGGGCAAGGAAGGGTCCAAAGAAGGTGAGCACCAGGCAGGGGGCAGCACCCACCTGAAAAAGAGGACGTGGACAGGGATGGTGCTGATGTGCCAGATGGCATGGGCACCCAGGACCCAGAAGAGCGGTGGGAAGTCAAGCAGCTCGAGCAGGGACAGCCCCTGCAGCAGCAAGACCACCACCACGCACTTGCGCACGTGAGGCAGCCGCCGCTGGTTCCACAGGCACCAGGCCAGCCACCACACCACGTTGACCAGGCCTGGGTGCCAGTGGGGGCAGGAGAGACTCATTCCTTCGGCTCCTTCTCCCCAAGGCCACCCCCAACTCCATGCTCTCTGACCCCAGGATCATCCTCGGACTCTCCTCCCAGCCTCCTCTCTCTCCCACCTCAAATTCTTCTCCATTCCTCTACCCCAAGAGTCTCTCTAGAACCTCCTTCTCCAGGAATGGCACCAACCTCCCACTCGCACCCCAAGCTAGCACTTCTGCAGATGGCCCAAGCCCCCCAGGGCCTCACCAATAGCCACGTTGGCCACCAGGTTGTAGCCATAGTCGAAGCGGATGAGGCTCAGGTAGGAGACGTGCACGGTCAGCATGAGCAGCAGGAGAGCCCGGAAGGCACTGACCACAGCTGGGTGCTGCAGCCCCACGGTCCTGCCCCACCGTCCAGGGTTGCTCAGAGGGCAGGTGGCCCATCCCCAGAGCAGCATTCCCTGAAGCATCTCCTCCCCCCAACATTGGTGCATGGCCCCTGAAGTCACTACCCCTCTCCCCACCAAACAGGCCACAGCTGGGCAGCAAGTGCTACAGCTCCTTGTCAGGAGCCAGGGCCCCCAGTCCTACCCCAGAGTCCTCACCCAGGACAGCTGATGTGTTGGGGGTTGGGGGGCGTAGGTGTTGGGAGACTAGTGAAGAAGGCCCCCAGGGGAAGGCTGGGTGACCCCTTTCTGCCCCCAGGGTTCGATTTTGCCCCTGCAGCCACCCAGGCAGGCTCACCTGACGCAGCACAGGTAGATTGAGTGTAGGATGACAGTGGAGGCACAGAAGTAGTCCATTTTCTGAGGACAGGGAAGGGTGGTGAGGGACCAGCATGAGGCTTCACGGAGAGGACCCGCGGGGATGGGGGCATGGAGGAGTGGCAGAGAGGGGCCGGGGTCCTGGGCCTGCCTATCACTGTTTCACTCTGACTGAGTCTTGTGTTCACATCACCATACAAGTTTTTAAAAATGTGCCCAGGAACAAGGCTTTAGGGACGCTGGTGGAGGGTTCCTGCTGAGGCTCCAGGACATGACCACGCTGCACAGAATTCAGAGCACAGTGTGGAGTCTGACAGCCATGGGGTCACGTCCTGTGGCAACCCTTCACTGGCTGGGTGCCCCTAAGCATGTGGTCCCCCTGTCGAAGGCTCAGCTGCCTCATCAGGCAAGAAGAGCGAATACTCATCCCCACCTGATGAGGCTCACTGAGGATCAAGGGCACCAACAGGTTTAGGATGCCCACCCCATACTCCTCCCAGTGCTCCTCAGAGGGAGTTGGCATGACCCTCTAGAGCCCCTCTGCCCACTTCTGGGCTCCTCTGGGACCACCCTGTGCAGGAGGGGGAGCTGGAGGAATGCTCACCTCTGTGAGGTCAGTGTCCCTGGTGTGGAAAACTGTGGACCAGAACCATGCATTGAGGGACACCTAAGGAGGGAGGGGCTGGTGAGCATGCTGCCCCCCACCCTGACCTCAAGGCAGGGACCCCCATTTGCTCACATCCATTTCACCTTTGGGAAGGGGCTCTGCAGGACAAGAAATGTGCTTTTCCTGCCCCTGGAGCCCTCTGAACAAACCTATGTCCCTCTACCCCCACCCAGCCAGGGTCCCTGGGGTGGACTTCCTGCCACCCCAAACCCCCAAGGCCACGGGGGGCTGCAGCCTCCACAGGTTCCGGCCTGGCCTGGGAACCAGTTCCGGTATAGCCAAGCTCCCTAGTTACTCAATTGCTAAGACAACAGCCCCCAGGGGCCTTGCCTCCTCCTCCAACCGGCAGGTGTTGACAGCACCACCCCACCCGGGCCCAGGGGAGCCAGTGACCTCAGCCTCTGGGGGCGGGAATGAGGTGGGTGGGGTGGAGGGGCTCGAGCCAGCTTGGGGTGTGTTCCAAGCAGCAGGGG
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Task1_train_24218
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A variant was discovered in gene PGAP3 (post-GPI attachment to proteins phospholipase 3), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Hyperphosphatasia with intellectual disability syndrome 4
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CAACTGTCTTCTCCTGCCCTCCAGCCCACCCTATTCACACAAATGAGCTGAACAAGGGCAGGTGAGGCTTGGAATTGATTTATTAAGCACATCCCTTGCCACCCTCCCACCTTAAAAGTTTTCAGTATCAAAAGAAGCTAGCGCAGGCCACCCGAGTCCCTGAGGTTGGAGTCCTAGCATAGCTCCCCTCCCTCAAAGAGGGACAAGGGGTCAGGGGCAGAGCAAAAATCCAGTCTGCTTCAACCACGGAGACTGCCTTTGGGATGGAAAGTTTCTGGAGCTCCCTCCATTCTATTCCTGTGGGGCAGGAACATGCCAGGGCTGCTGGTAAATGGCAGGGGTCACCTTTACCAGGGCGCAGGCATAGTGTGGCCCCTGCCTGCCCTGGGGCCACCCTGGAACAGTAAGACCCTCTGGGAAGGGAAGAAACCAGACCCAGCCATAAGCTTTCTCCCCTTCTCCCTCAAATCGCCCCTTCCTCCTCCCCAAAATCAGGCTATGGCAAAGGGGCTGGCAGCAGGGGAATGGAGGTTTTGGAGGGGAAGGCCAGCCATGCGAAGGCAAGGAGAAAAGGAGGATGGAGAGAGCCCCAGCCATCCCCATTTTCCTTCCTCTGCCTCCGAGGGGCTGCTTCTGGAGGGCACTGTTGTGTGGGGACCCTGTGAGGTTTGCAGGAGGCGGGCAAAGGGGCACCAGACAGGGAACATGCACACAGGCAGCCTGGCCATGGAGAGCTCCTGGCTGTCCGCCCAGGTGGCGCCTTGGGCAGAGCTGGCGCTCCACAAGTGATTATTGATGGTGACAGGATTCCCTCATCCTGCTCCAACCTCTCAACTGTGGACACATTCACCGGCAGTCACTCATCTCACATGCCCACCAGCACGCGCACACACGTTCCCCTAACCCACGCTAACACACCCACCCCCTGCACACACACACTTTGAAGCCACACCTCTTCCCCGACAACACCCGTCTCCACACTGCGCACCTAGGCCTGAGCTCACACACACCCAGGCCCATGCTCACGGCCCTGTCACCTATGCACTCAGCCTGGCCCACACTCCCGACACACGGTGGCAGGCTCTCAACCAGACAGCAGCACAGGATCCTTGCCCTGGGCTTGCTGGAGCCCTGGCCCTGAAAGGGAGTATGGTGAGGCCTCCTGGGAACCTGGCTAGGGCAATGGTCAGGGTGAAACTCCTTCCCAATCCCAGCAGCTTGGTCCCTCAAGATCCCATGGGGAGAATCGCCGTGAACCTTGGCTGGCCAAAGAACAAGCATCCAGCACCACCTAGTGGTGTCCTGGAGGAGGGTGGGGGGTGGTAACAGAAGGGGACCCCCTGTATCCCTAAGGCCTGTGGTCCCTGGTCTCCCAGGTAGACAGAGGGCTTCAGGACCCAGCCAGGCAGCTGGGGATGTGGGGAGGAGGCTGATGGGGAGGAAACAGGCAGCTGTCCTCCCGGTAGAGCTAAGAGCACACTCAGTTCCACCCCAGTTCAGCTCCAGGAGGTAGAGGGGCTGCCCACTCTCGAGTCCCAGATGCTGGGAGGCCTTCCCTAGAACAGACTCCAAGGCTGGTGAGGGCCAACAGGGGGTGGGCTGGCCACATGATTCTGGGCCCACATCCTTCATGTCCAAGTTCAAGAAGTTGAAAAGAGAAAATCATCTCAAGGGTTGAGGGGAGAAGGGAGGCCAGCAGGGCGGGGGCAGGATCCCCACTGGGGCAGACTCGCTCCAAGGTCTTCAGTCCAGCTTGAACTTGTCCTCTGATTCCTTCAGCAGGTACAGGCTGTCATCTTCCAGAAAGCTGTGGGCCAAAGGAGTAGCCCATTGAGGCACACAGCTCTGACAGCTCGCATGGAGACAAGGGTGGGGTGCATGCAGGCAAGGTGGGAGGGGGCGGATGGGCACACAGAGCCCCCAATCTCCCCTAAGGAGTGGGCAAGGAAGGGTCCAAAGAAGGTGAGCACCAGGCAGGGGGCAGCACCCACCTGAAAAAGAGGACGTGGACAGGGATGGTGCTGATGTGCCAGATGGCATGGGCATCCAGGACCCAGAAGAGCGGTGGGAAGTCAAGCAGCTCGAGCAGGGACAGCCCCTGCAGCAGCAAGACCACCACCACGCACTTGCGCACGTGAGGCAGCCGCCGCTGGTTCCACAGGCACCAGGCCAGCCACCACACCACGTTGACCAGGCCTGGGTGCCAGTGGGGGCAGGAGAGACTCATTCCTTCGGCTCCTTCTCCCCAAGGCCACCCCCAACTCCATGCTCTCTGACCCCAGGATCATCCTCGGACTCTCCTCCCAGCCTCCTCTCTCTCCCACCTCAAATTCTTCTCCATTCCTCTACCCCAAGAGTCTCTCTAGAACCTCCTTCTCCAGGAATGGCACCAACCTCCCACTCGCACCCCAAGCTAGCACTTCTGCAGATGGCCCAAGCCCCCCAGGGCCTCACCAATAGCCACGTTGGCCACCAGGTTGTAGCCATAGTCGAAGCGGATGAGGCTCAGGTAGGAGACGTGCACGGTCAGCATGAGCAGCAGGAGAGCCCGGAAGGCACTGACCACAGCTGGGTGCTGCAGCCCCACGGTCCTGCCCCACCGTCCAGGGTTGCTCAGAGGGCAGGTGGCCCATCCCCAGAGCAGCATTCCCTGAAGCATCTCCTCCCCCCAACATTGGTGCATGGCCCCTGAAGTCACTACCCCTCTCCCCACCAAACAGGCCACAGCTGGGCAGCAAGTGCTACAGCTCCTTGTCAGGAGCCAGGGCCCCCAGTCCTACCCCAGAGTCCTCACCCAGGACAGCTGATGTGTTGGGGGTTGGGGGGCGTAGGTGTTGGGAGACTAGTGAAGAAGGCCCCCAGGGGAAGGCTGGGTGACCCCTTTCTGCCCCCAGGGTTCGATTTTGCCCCTGCAGCCACCCAGGCAGGCTCACCTGACGCAGCACAGGTAGATTGAGTGTAGGATGACAGTGGAGGCACAGAAGTAGTCCATTTTCTGAGGACAGGGAAGGGTGGTGAGGGACCAGCATGAGGCTTCACGGAGAGGACCCGCGGGGATGGGGGCATGGAGGAGTGGCAGAGAGGGGCCGGGGTCCTGGGCCTGCCTATCACTGTTTCACTCTGACTGAGTCTTGTGTTCACATCACCATACAAGTTTTTAAAAATGTGCCCAGGAACAAGGCTTTAGGGACGCTGGTGGAGGGTTCCTGCTGAGGCTCCAGGACATGACCACGCTGCACAGAATTCAGAGCACAGTGTGGAGTCTGACAGCCATGGGGTCACGTCCTGTGGCAACCCTTCACTGGCTGGGTGCCCCTAAGCATGTGGTCCCCCTGTCGAAGGCTCAGCTGCCTCATCAGGCAAGAAGAGCGAATACTCATCCCCACCTGATGAGGCTCACTGAGGATCAAGGGCACCAACAGGTTTAGGATGCCCACCCCATACTCCTCCCAGTGCTCCTCAGAGGGAGTTGGCATGACCCTCTAGAGCCCCTCTGCCCACTTCTGGGCTCCTCTGGGACCACCCTGTGCAGGAGGGGGAGCTGGAGGAATGCTCACCTCTGTGAGGTCAGTGTCCCTGGTGTGGAAAACTGTGGACCAGAACCATGCATTGAGGGACACCTAAGGAGGGAGGGGCTGGTGAGCATGCTGCCCCCCACCCTGACCTCAAGGCAGGGACCCCCATTTGCTCACATCCATTTCACCTTTGGGAAGGGGCTCTGCAGGACAAGAAATGTGCTTTTCCTGCCCCTGGAGCCCTCTGAACAAACCTATGTCCCTCTACCCCCACCCAGCCAGGGTCCCTGGGGTGGACTTCCTGCCACCCCAAACCCCCAAGGCCACGGGGGGCTGCAGCCTCCACAGGTTCCGGCCTGGCCTGGGAACCAGTTCCGGTATAGCCAAGCTCCCTAGTTACTCAATTGCTAAGACAACAGCCCCCAGGGGCCTTGCCTCCTCCTCCAACCGGCAGGTGTTGACAGCACCACCCCACCCGGGCCCAGGGGAGCCAGTGACCTCAGCCTCTGGGGGCGGGAATGAGGTGGGTGGGGTGGAGGGGCTCGAGCCAGCTTGGGGTGTGTTCCAAGCAGCAGGGGAGG
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CAACTGTCTTCTCCTGCCCTCCAGCCCACCCTATTCACACAAATGAGCTGAACAAGGGCAGGTGAGGCTTGGAATTGATTTATTAAGCACATCCCTTGCCACCCTCCCACCTTAAAAGTTTTCAGTATCAAAAGAAGCTAGCGCAGGCCACCCGAGTCCCTGAGGTTGGAGTCCTAGCATAGCTCCCCTCCCTCAAAGAGGGACAAGGGGTCAGGGGCAGAGCAAAAATCCAGTCTGCTTCAACCACGGAGACTGCCTTTGGGATGGAAAGTTTCTGGAGCTCCCTCCATTCTATTCCTGTGGGGCAGGAACATGCCAGGGCTGCTGGTAAATGGCAGGGGTCACCTTTACCAGGGCGCAGGCATAGTGTGGCCCCTGCCTGCCCTGGGGCCACCCTGGAACAGTAAGACCCTCTGGGAAGGGAAGAAACCAGACCCAGCCATAAGCTTTCTCCCCTTCTCCCTCAAATCGCCCCTTCCTCCTCCCCAAAATCAGGCTATGGCAAAGGGGCTGGCAGCAGGGGAATGGAGGTTTTGGAGGGGAAGGCCAGCCATGCGAAGGCAAGGAGAAAAGGAGGATGGAGAGAGCCCCAGCCATCCCCATTTTCCTTCCTCTGCCTCCGAGGGGCTGCTTCTGGAGGGCACTGTTGTGTGGGGACCCTGTGAGGTTTGCAGGAGGCGGGCAAAGGGGCACCAGACAGGGAACATGCACACAGGCAGCCTGGCCATGGAGAGCTCCTGGCTGTCCGCCCAGGTGGCGCCTTGGGCAGAGCTGGCGCTCCACAAGTGATTATTGATGGTGACAGGATTCCCTCATCCTGCTCCAACCTCTCAACTGTGGACACATTCACCGGCAGTCACTCATCTCACATGCCCACCAGCACGCGCACACACGTTCCCCTAACCCACGCTAACACACCCACCCCCTGCACACACACACTTTGAAGCCACACCTCTTCCCCGACAACACCCGTCTCCACACTGCGCACCTAGGCCTGAGCTCACACACACCCAGGCCCATGCTCACGGCCCTGTCACCTATGCACTCAGCCTGGCCCACACTCCCGACACACGGTGGCAGGCTCTCAACCAGACAGCAGCACAGGATCCTTGCCCTGGGCTTGCTGGAGCCCTGGCCCTGAAAGGGAGTATGGTGAGGCCTCCTGGGAACCTGGCTAGGGCAATGGTCAGGGTGAAACTCCTTCCCAATCCCAGCAGCTTGGTCCCTCAAGATCCCATGGGGAGAATCGCCGTGAACCTTGGCTGGCCAAAGAACAAGCATCCAGCACCACCTAGTGGTGTCCTGGAGGAGGGTGGGGGGTGGTAACAGAAGGGGACCCCCTGTATCCCTAAGGCCTGTGGTCCCTGGTCTCCCAGGTAGACAGAGGGCTTCAGGACCCAGCCAGGCAGCTGGGGATGTGGGGAGGAGGCTGATGGGGAGGAAACAGGCAGCTGTCCTCCCGGTAGAGCTAAGAGCACACTCAGTTCCACCCCAGTTCAGCTCCAGGAGGTAGAGGGGCTGCCCACTCTCGAGTCCCAGATGCTGGGAGGCCTTCCCTAGAACAGACTCCAAGGCTGGTGAGGGCCAACAGGGGGTGGGCTGGCCACATGATTCTGGGCCCACATCCTTCATGTCCAAGTTCAAGAAGTTGAAAAGAGAAAATCATCTCAAGGGTTGAGGGGAGAAGGGAGGCCAGCAGGGCGGGGGCAGGATCCCCACTGGGGCAGACTCGCTCCAAGGTCTTCAGTCCAGCTTGAACTTGTCCTCTGATTCCTTCAGCAGGTACAGGCTGTCATCTTCCAGAAAGCTGTGGGCCAAAGGAGTAGCCCATTGAGGCACACAGCTCTGACAGCTCGCATGGAGACAAGGGTGGGGTGCATGCAGGCAAGGTGGGAGGGGGCGGATGGGCACACAGAGCCCCCAATCTCCCCTAAGGAGTGGGCAAGGAAGGGTCCAAAGAAGGTGAGCACCAGGCAGGGGGCAGCACCCACCTGAAAAAGAGGACGTGGACAGGGATGGTGCTGATGTGCCAGATGGCATGGGCATCCGGGACCCAGAAGAGCGGTGGGAAGTCAAGCAGCTCGAGCAGGGACAGCCCCTGCAGCAGCAAGACCACCACCACGCACTTGCGCACGTGAGGCAGCCGCCGCTGGTTCCACAGGCACCAGGCCAGCCACCACACCACGTTGACCAGGCCTGGGTGCCAGTGGGGGCAGGAGAGACTCATTCCTTCGGCTCCTTCTCCCCAAGGCCACCCCCAACTCCATGCTCTCTGACCCCAGGATCATCCTCGGACTCTCCTCCCAGCCTCCTCTCTCTCCCACCTCAAATTCTTCTCCATTCCTCTACCCCAAGAGTCTCTCTAGAACCTCCTTCTCCAGGAATGGCACCAACCTCCCACTCGCACCCCAAGCTAGCACTTCTGCAGATGGCCCAAGCCCCCCAGGGCCTCACCAATAGCCACGTTGGCCACCAGGTTGTAGCCATAGTCGAAGCGGATGAGGCTCAGGTAGGAGACGTGCACGGTCAGCATGAGCAGCAGGAGAGCCCGGAAGGCACTGACCACAGCTGGGTGCTGCAGCCCCACGGTCCTGCCCCACCGTCCAGGGTTGCTCAGAGGGCAGGTGGCCCATCCCCAGAGCAGCATTCCCTGAAGCATCTCCTCCCCCCAACATTGGTGCATGGCCCCTGAAGTCACTACCCCTCTCCCCACCAAACAGGCCACAGCTGGGCAGCAAGTGCTACAGCTCCTTGTCAGGAGCCAGGGCCCCCAGTCCTACCCCAGAGTCCTCACCCAGGACAGCTGATGTGTTGGGGGTTGGGGGGCGTAGGTGTTGGGAGACTAGTGAAGAAGGCCCCCAGGGGAAGGCTGGGTGACCCCTTTCTGCCCCCAGGGTTCGATTTTGCCCCTGCAGCCACCCAGGCAGGCTCACCTGACGCAGCACAGGTAGATTGAGTGTAGGATGACAGTGGAGGCACAGAAGTAGTCCATTTTCTGAGGACAGGGAAGGGTGGTGAGGGACCAGCATGAGGCTTCACGGAGAGGACCCGCGGGGATGGGGGCATGGAGGAGTGGCAGAGAGGGGCCGGGGTCCTGGGCCTGCCTATCACTGTTTCACTCTGACTGAGTCTTGTGTTCACATCACCATACAAGTTTTTAAAAATGTGCCCAGGAACAAGGCTTTAGGGACGCTGGTGGAGGGTTCCTGCTGAGGCTCCAGGACATGACCACGCTGCACAGAATTCAGAGCACAGTGTGGAGTCTGACAGCCATGGGGTCACGTCCTGTGGCAACCCTTCACTGGCTGGGTGCCCCTAAGCATGTGGTCCCCCTGTCGAAGGCTCAGCTGCCTCATCAGGCAAGAAGAGCGAATACTCATCCCCACCTGATGAGGCTCACTGAGGATCAAGGGCACCAACAGGTTTAGGATGCCCACCCCATACTCCTCCCAGTGCTCCTCAGAGGGAGTTGGCATGACCCTCTAGAGCCCCTCTGCCCACTTCTGGGCTCCTCTGGGACCACCCTGTGCAGGAGGGGGAGCTGGAGGAATGCTCACCTCTGTGAGGTCAGTGTCCCTGGTGTGGAAAACTGTGGACCAGAACCATGCATTGAGGGACACCTAAGGAGGGAGGGGCTGGTGAGCATGCTGCCCCCCACCCTGACCTCAAGGCAGGGACCCCCATTTGCTCACATCCATTTCACCTTTGGGAAGGGGCTCTGCAGGACAAGAAATGTGCTTTTCCTGCCCCTGGAGCCCTCTGAACAAACCTATGTCCCTCTACCCCCACCCAGCCAGGGTCCCTGGGGTGGACTTCCTGCCACCCCAAACCCCCAAGGCCACGGGGGGCTGCAGCCTCCACAGGTTCCGGCCTGGCCTGGGAACCAGTTCCGGTATAGCCAAGCTCCCTAGTTACTCAATTGCTAAGACAACAGCCCCCAGGGGCCTTGCCTCCTCCTCCAACCGGCAGGTGTTGACAGCACCACCCCACCCGGGCCCAGGGGAGCCAGTGACCTCAGCCTCTGGGGGCGGGAATGAGGTGGGTGGGGTGGAGGGGCTCGAGCCAGCTTGGGGTGTGTTCCAAGCAGCAGGGGAGG
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Task1_train_24219
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A variant affecting Chromosome 17, within the gene PGAP3 (post-GPI attachment to proteins phospholipase 3), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Hyperphosphatasia with intellectual disability syndrome 4
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ACACACACTTTGAAGCCACACCTCTTCCCCGACAACACCCGTCTCCACACTGCGCACCTAGGCCTGAGCTCACACACACCCAGGCCCATGCTCACGGCCCTGTCACCTATGCACTCAGCCTGGCCCACACTCCCGACACACGGTGGCAGGCTCTCAACCAGACAGCAGCACAGGATCCTTGCCCTGGGCTTGCTGGAGCCCTGGCCCTGAAAGGGAGTATGGTGAGGCCTCCTGGGAACCTGGCTAGGGCAATGGTCAGGGTGAAACTCCTTCCCAATCCCAGCAGCTTGGTCCCTCAAGATCCCATGGGGAGAATCGCCGTGAACCTTGGCTGGCCAAAGAACAAGCATCCAGCACCACCTAGTGGTGTCCTGGAGGAGGGTGGGGGGTGGTAACAGAAGGGGACCCCCTGTATCCCTAAGGCCTGTGGTCCCTGGTCTCCCAGGTAGACAGAGGGCTTCAGGACCCAGCCAGGCAGCTGGGGATGTGGGGAGGAGGCTGATGGGGAGGAAACAGGCAGCTGTCCTCCCGGTAGAGCTAAGAGCACACTCAGTTCCACCCCAGTTCAGCTCCAGGAGGTAGAGGGGCTGCCCACTCTCGAGTCCCAGATGCTGGGAGGCCTTCCCTAGAACAGACTCCAAGGCTGGTGAGGGCCAACAGGGGGTGGGCTGGCCACATGATTCTGGGCCCACATCCTTCATGTCCAAGTTCAAGAAGTTGAAAAGAGAAAATCATCTCAAGGGTTGAGGGGAGAAGGGAGGCCAGCAGGGCGGGGGCAGGATCCCCACTGGGGCAGACTCGCTCCAAGGTCTTCAGTCCAGCTTGAACTTGTCCTCTGATTCCTTCAGCAGGTACAGGCTGTCATCTTCCAGAAAGCTGTGGGCCAAAGGAGTAGCCCATTGAGGCACACAGCTCTGACAGCTCGCATGGAGACAAGGGTGGGGTGCATGCAGGCAAGGTGGGAGGGGGCGGATGGGCACACAGAGCCCCCAATCTCCCCTAAGGAGTGGGCAAGGAAGGGTCCAAAGAAGGTGAGCACCAGGCAGGGGGCAGCACCCACCTGAAAAAGAGGACGTGGACAGGGATGGTGCTGATGTGCCAGATGGCATGGGCATCCAGGACCCAGAAGAGCGGTGGGAAGTCAAGCAGCTCGAGCAGGGACAGCCCCTGCAGCAGCAAGACCACCACCACGCACTTGCGCACGTGAGGCAGCCGCCGCTGGTTCCACAGGCACCAGGCCAGCCACCACACCACGTTGACCAGGCCTGGGTGCCAGTGGGGGCAGGAGAGACTCATTCCTTCGGCTCCTTCTCCCCAAGGCCACCCCCAACTCCATGCTCTCTGACCCCAGGATCATCCTCGGACTCTCCTCCCAGCCTCCTCTCTCTCCCACCTCAAATTCTTCTCCATTCCTCTACCCCAAGAGTCTCTCTAGAACCTCCTTCTCCAGGAATGGCACCAACCTCCCACTCGCACCCCAAGCTAGCACTTCTGCAGATGGCCCAAGCCCCCCAGGGCCTCACCAATAGCCACGTTGGCCACCAGGTTGTAGCCATAGTCGAAGCGGATGAGGCTCAGGTAGGAGACGTGCACGGTCAGCATGAGCAGCAGGAGAGCCCGGAAGGCACTGACCACAGCTGGGTGCTGCAGCCCCACGGTCCTGCCCCACCGTCCAGGGTTGCTCAGAGGGCAGGTGGCCCATCCCCAGAGCAGCATTCCCTGAAGCATCTCCTCCCCCCAACATTGGTGCATGGCCCCTGAAGTCACTACCCCTCTCCCCACCAAACAGGCCACAGCTGGGCAGCAAGTGCTACAGCTCCTTGTCAGGAGCCAGGGCCCCCAGTCCTACCCCAGAGTCCTCACCCAGGACAGCTGATGTGTTGGGGGTTGGGGGGCGTAGGTGTTGGGAGACTAGTGAAGAAGGCCCCCAGGGGAAGGCTGGGTGACCCCTTTCTGCCCCCAGGGTTCGATTTTGCCCCTGCAGCCACCCAGGCAGGCTCACCTGACGCAGCACAGGTAGATTGAGTGTAGGATGACAGTGGAGGCACAGAAGTAGTCCATTTTCTGAGGACAGGGAAGGGTGGTGAGGGACCAGCATGAGGCTTCACGGAGAGGACCCGCGGGGATGGGGGCATGGAGGAGTGGCAGAGAGGGGCCGGGGTCCTGGGCCTGCCTATCACTGTTTCACTCTGACTGAGTCTTGTGTTCACATCACCATACAAGTTTTTAAAAATGTGCCCAGGAACAAGGCTTTAGGGACGCTGGTGGAGGGTTCCTGCTGAGGCTCCAGGACATGACCACGCTGCACAGAATTCAGAGCACAGTGTGGAGTCTGACAGCCATGGGGTCACGTCCTGTGGCAACCCTTCACTGGCTGGGTGCCCCTAAGCATGTGGTCCCCCTGTCGAAGGCTCAGCTGCCTCATCAGGCAAGAAGAGCGAATACTCATCCCCACCTGATGAGGCTCACTGAGGATCAAGGGCACCAACAGGTTTAGGATGCCCACCCCATACTCCTCCCAGTGCTCCTCAGAGGGAGTTGGCATGACCCTCTAGAGCCCCTCTGCCCACTTCTGGGCTCCTCTGGGACCACCCTGTGCAGGAGGGGGAGCTGGAGGAATGCTCACCTCTGTGAGGTCAGTGTCCCTGGTGTGGAAAACTGTGGACCAGAACCATGCATTGAGGGACACCTAAGGAGGGAGGGGCTGGTGAGCATGCTGCCCCCCACCCTGACCTCAAGGCAGGGACCCCCATTTGCTCACATCCATTTCACCTTTGGGAAGGGGCTCTGCAGGACAAGAAATGTGCTTTTCCTGCCCCTGGAGCCCTCTGAACAAACCTATGTCCCTCTACCCCCACCCAGCCAGGGTCCCTGGGGTGGACTTCCTGCCACCCCAAACCCCCAAGGCCACGGGGGGCTGCAGCCTCCACAGGTTCCGGCCTGGCCTGGGAACCAGTTCCGGTATAGCCAAGCTCCCTAGTTACTCAATTGCTAAGACAACAGCCCCCAGGGGCCTTGCCTCCTCCTCCAACCGGCAGGTGTTGACAGCACCACCCCACCCGGGCCCAGGGGAGCCAGTGACCTCAGCCTCTGGGGGCGGGAATGAGGTGGGTGGGGTGGAGGGGCTCGAGCCAGCTTGGGGTGTGTTCCAAGCAGCAGGGGAGGGAGATCAAGCAGATCCCACTGGGGCACAGGCTCCCAGGAGGAGGGTGAACCAAGCCCAGCTTCCTCCTGGCTGGGCCTGCCCAACCCGCCAGACCAGTGGCTGCTCCCGAGCCTGGGAGGAGTAGAGGGCAGGACTGGAGGGGCTGTGGTGGGCCAGGGCCCAGGGGAATGTTTGAGGCCTTCTTCCTGGAAATTAGCTGCGTGGAGAGAGCACAAAAGTTATCTAGCGAATGAGCCTAAGAGCTTGTGGGCGTTGGTGCTGGCACTTTCTTCAGGGACTGCTGTGTCCACAGCAAAGGCCCAAACTGCTGAAAGCAGGGTGGGCTGAAGGGAAGGGCTGGGAAATCGTGACAACCAAAGGAACAGCAGGCCAGGCCGGGAATGGCCTGGAGGTGGGGAGGGATGCGCTAGGGTGGGACAGGCCTGGCGGAGATGAGGAAAGGCCAGGAACTGCTCAGTTGGCTCCAATGTACCAGGAAAACTGGCCAGGCAGGGGACAGAGGGAGGGGGCAAGAAGCTACACTCTGTCTGGCACTGTAGCAGGCAGGTCAGACAGTAAGATGCATTCCAAATGCAGGTCTGGGGAGCTCAGGAGAGAATGGGAGGAGAAGGGGTACAGGCGGGGCAGAACTGCTGCACAGCCAGTCAGGTTCTCGGGGTGCCAAGCTCTGGAAGGCGCAAGGCTGCCTAGTGCCCCTGTCTGGCCTGGGCTCTGGGCTGAGCCTTGCTGCTTCTGCTCCTCTTGACCTGGTCAAAGGGCCCTGCCCTTCTCAGCCCAAGCTTCCCCCGGGACAAATCATGGCTCAAGTGAAACTTCAGTTCCTTTCCAGCCTGGCGTTAGGTGGTGTGGTCTAGGGCAGGCTGCTTCCTCCTTTGAGGATGGCCACTCTGTCCCTTCCACCAGACTCAAGGCTCTGCCCTGCTGCAGCCC
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ACACACACTTTGAAGCCACACCTCTTCCCCGACAACACCCGTCTCCACACTGCGCACCTAGGCCTGAGCTCACACACACCCAGGCCCATGCTCACGGCCCTGTCACCTATGCACTCAGCCTGGCCCACACTCCCGACACACGGTGGCAGGCTCTCAACCAGACAGCAGCACAGGATCCTTGCCCTGGGCTTGCTGGAGCCCTGGCCCTGAAAGGGAGTATGGTGAGGCCTCCTGGGAACCTGGCTAGGGCAATGGTCAGGGTGAAACTCCTTCCCAATCCCAGCAGCTTGGTCCCTCAAGATCCCATGGGGAGAATCGCCGTGAACCTTGGCTGGCCAAAGAACAAGCATCCAGCACCACCTAGTGGTGTCCTGGAGGAGGGTGGGGGGTGGTAACAGAAGGGGACCCCCTGTATCCCTAAGGCCTGTGGTCCCTGGTCTCCCAGGTAGACAGAGGGCTTCAGGACCCAGCCAGGCAGCTGGGGATGTGGGGAGGAGGCTGATGGGGAGGAAACAGGCAGCTGTCCTCCCGGTAGAGCTAAGAGCACACTCAGTTCCACCCCAGTTCAGCTCCAGGAGGTAGAGGGGCTGCCCACTCTCGAGTCCCAGATGCTGGGAGGCCTTCCCTAGAACAGACTCCAAGGCTGGTGAGGGCCAACAGGGGGTGGGCTGGCCACATGATTCTGGGCCCACATCCTTCATGTCCAAGTTCAAGAAGTTGAAAAGAGAAAATCATCTCAAGGGTTGAGGGGAGAAGGGAGGCCAGCAGGGCGGGGGCAGGATCCCCACTGGGGCAGACTCGCTCCAAGGTCTTCAGTCCAGCTTGAACTTGTCCTCTGATTCCTTCAGCAGGTACAGGCTGTCATCTTCCAGAAAGCTGTGGGCCAAAGGAGTAGCCCATTGAGGCACACAGCTCTGACAGCTCGCATGGAGACAAGGGTGGGGTGCATGCAGGCAAGGTGGGAGGGGGCGGATGGGCACACAGAGCCCCCAATCTCCCCTAAGGAGTGGGCAAGGAAGGGTCCAAAGAAGGTGAGCACCAGGCAGGGGGCAGCACCCACCTGAAAAAGAGGACGTGGACAGGGATGGTGCTGATGTGCCAGATGGCATGGGCATCCAGGACCCAGAAGAGCGGTGGGAAGTCAAGCAGCTCGAGCAGGGACAGCCCCTGCAGCAGCAAGACCACCACCACGCACTTGCGCACGTGAGGCAGCCGCCGCTGGTTCCACAGGCACCAGGCCAGCCACCACACCACGTTGACCAGGCCTGGGTGCCAGTGGGGGCAGGAGAGACTCATTCCTTCGGCTCCTTCTCCCCAAGGCCACCCCCAACTCCATGCTCTCTGACCCCAGGATCATCCTCGGACTCTCCTCCCAGCCTCCTCTCTCTCCCACCTCAAATTCTTCTCCATTCCTCTACCCCAAGAGTCTCTCTAGAACCTCCTTCTCCAGGAATGGCACCAACCTCCCACTCGCACCCCAAGCTAGCACTTCTGCAGATGGCCCAAGCCCCCCAGGGCCTCACCAATAGCCACGTTGGCCACCAGGTTGTAGCCATAGTCGAAGCGGATGAGGCTCAGGTAGGAGACGTGCACGGTCAGCATGAGCAGCAGGAGAGCCCGGAAGGCACTGACCACAGCTGGGTGCTGCAGCCCCACGGTCCTGCCCCACCGTCCAGGGTTGCTCAGAGGGCAGGTGGCCCATCCCCAGAGCAGCATTCCCTGAAGCATCTCCTCCCCCCAACATTGGTGCATGGCCCCTGAAGTCACTACCCCTCTCCCCACCAAACAGGCCACAGCTGGGCAGCAAGTGCTACAGCTCCTTGTCAGGAGCCAGGGCCCCCAGTCCTACCCCAGAGTCCTCACCCAGGACAGCTGATGTGTTGGGGGTTGGGGGGCGTAGGTGTTGGGAGACTAGTGAAGAAGGCCCCCAGGGGAAGGCTGGGTGACCCCTTTCTGCCCCCAGGGTTCGATTTTGCCCCTGCAGCCACCCAGGCAGGCTCACCTGACGCAGCACAGGTAGATTGAGTGTAGGATGACAGTGGAGGCACGGAAGTAGTCCATTTTCTGAGGACAGGGAAGGGTGGTGAGGGACCAGCATGAGGCTTCACGGAGAGGACCCGCGGGGATGGGGGCATGGAGGAGTGGCAGAGAGGGGCCGGGGTCCTGGGCCTGCCTATCACTGTTTCACTCTGACTGAGTCTTGTGTTCACATCACCATACAAGTTTTTAAAAATGTGCCCAGGAACAAGGCTTTAGGGACGCTGGTGGAGGGTTCCTGCTGAGGCTCCAGGACATGACCACGCTGCACAGAATTCAGAGCACAGTGTGGAGTCTGACAGCCATGGGGTCACGTCCTGTGGCAACCCTTCACTGGCTGGGTGCCCCTAAGCATGTGGTCCCCCTGTCGAAGGCTCAGCTGCCTCATCAGGCAAGAAGAGCGAATACTCATCCCCACCTGATGAGGCTCACTGAGGATCAAGGGCACCAACAGGTTTAGGATGCCCACCCCATACTCCTCCCAGTGCTCCTCAGAGGGAGTTGGCATGACCCTCTAGAGCCCCTCTGCCCACTTCTGGGCTCCTCTGGGACCACCCTGTGCAGGAGGGGGAGCTGGAGGAATGCTCACCTCTGTGAGGTCAGTGTCCCTGGTGTGGAAAACTGTGGACCAGAACCATGCATTGAGGGACACCTAAGGAGGGAGGGGCTGGTGAGCATGCTGCCCCCCACCCTGACCTCAAGGCAGGGACCCCCATTTGCTCACATCCATTTCACCTTTGGGAAGGGGCTCTGCAGGACAAGAAATGTGCTTTTCCTGCCCCTGGAGCCCTCTGAACAAACCTATGTCCCTCTACCCCCACCCAGCCAGGGTCCCTGGGGTGGACTTCCTGCCACCCCAAACCCCCAAGGCCACGGGGGGCTGCAGCCTCCACAGGTTCCGGCCTGGCCTGGGAACCAGTTCCGGTATAGCCAAGCTCCCTAGTTACTCAATTGCTAAGACAACAGCCCCCAGGGGCCTTGCCTCCTCCTCCAACCGGCAGGTGTTGACAGCACCACCCCACCCGGGCCCAGGGGAGCCAGTGACCTCAGCCTCTGGGGGCGGGAATGAGGTGGGTGGGGTGGAGGGGCTCGAGCCAGCTTGGGGTGTGTTCCAAGCAGCAGGGGAGGGAGATCAAGCAGATCCCACTGGGGCACAGGCTCCCAGGAGGAGGGTGAACCAAGCCCAGCTTCCTCCTGGCTGGGCCTGCCCAACCCGCCAGACCAGTGGCTGCTCCCGAGCCTGGGAGGAGTAGAGGGCAGGACTGGAGGGGCTGTGGTGGGCCAGGGCCCAGGGGAATGTTTGAGGCCTTCTTCCTGGAAATTAGCTGCGTGGAGAGAGCACAAAAGTTATCTAGCGAATGAGCCTAAGAGCTTGTGGGCGTTGGTGCTGGCACTTTCTTCAGGGACTGCTGTGTCCACAGCAAAGGCCCAAACTGCTGAAAGCAGGGTGGGCTGAAGGGAAGGGCTGGGAAATCGTGACAACCAAAGGAACAGCAGGCCAGGCCGGGAATGGCCTGGAGGTGGGGAGGGATGCGCTAGGGTGGGACAGGCCTGGCGGAGATGAGGAAAGGCCAGGAACTGCTCAGTTGGCTCCAATGTACCAGGAAAACTGGCCAGGCAGGGGACAGAGGGAGGGGGCAAGAAGCTACACTCTGTCTGGCACTGTAGCAGGCAGGTCAGACAGTAAGATGCATTCCAAATGCAGGTCTGGGGAGCTCAGGAGAGAATGGGAGGAGAAGGGGTACAGGCGGGGCAGAACTGCTGCACAGCCAGTCAGGTTCTCGGGGTGCCAAGCTCTGGAAGGCGCAAGGCTGCCTAGTGCCCCTGTCTGGCCTGGGCTCTGGGCTGAGCCTTGCTGCTTCTGCTCCTCTTGACCTGGTCAAAGGGCCCTGCCCTTCTCAGCCCAAGCTTCCCCCGGGACAAATCATGGCTCAAGTGAAACTTCAGTTCCTTTCCAGCCTGGCGTTAGGTGGTGTGGTCTAGGGCAGGCTGCTTCCTCCTTTGAGGATGGCCACTCTGTCCCTTCCACCAGACTCAAGGCTCTGCCCTGCTGCAGCCC
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Task1_train_24220
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This variant affects gene PGAP3 (post-GPI attachment to proteins phospholipase 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Hyperphosphatasia with intellectual disability syndrome 4
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CTGGTCTACTGCATCCACTCCCGCCCCCTTCAATCTGTTCTCTACACAGTAGCCAGAATGAGCTTTCCAAAGGGCAAATCTATTCATGAAACAACTTTTCTCCTCAACCCTCATTTAAAATCCCTCCGTAGGCCGAGCACGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGCAGAGGTTGCAGCGAGCCAAGATAGCGCCACTGCACTCCAGCTGGGGCAACAGAGTGAGACTTTGTCTCAAATAAAATAAAATAAAATAAAATAAAATCCCTCCGTACTTCCTGATGCTTTGAGAGTCAAGATCTCCAATGTGAGGCTCTCCATGGCTGGCCCCATCCACCACCCATCAGTCCGCCCAGCTCACACCCACTCTCTGATTTCCTGCATGTCAGGCTGCCTGGAATGACCCTCCCTCTCTCCCACCTGGGCACTTTCTGAGACTTCTCTTTAGAAGCCTTCCCTTACTCTTCTCAAATTTACCTAGTTAACATTCATGCATCCTTCCCACCTTACCTTTAATGCCCCTTCCCCAGGGAAGCCTTCCCTGATGGCCCCATGCTGGTCTTGGTCTGCCTTTACACACACCCCTGAAGCACCTCTCCCCGACTGCACTTTTTCATAGTTGTACTCTTACATTCAATTGTATGATTAGCACCAGAGGGCAGACTTCTGGATCTCCAGCAAAGTGCCTGGCATATAGTAGGTGCTCAACACCTGAGTGAATGGCTTCTGTGAGAGCAGGAAGGTGAGTGAATGGAAATTTTTTCCTTAAGGCTTACAGGGGCAGCTCCGACCTAGAGACATCCGTTGCAACCTTTCATTCTCACACCCTTCCCAAGGCCGTCACGGTCCATATCTGCACCCCAGTCTGTGCTTATCACACAATACCAGGCCCTGAATACAGCTCTTTAGACCAGCCGTACTGTGAAGCTGACAGCCCTTTCTGCACCTGCAGATGTAACCATACCTGGGCTTCTCCAGGGATGGTCTAAGCCTAGGCTGAGCTCGCCAGGTGCAGTGACTCACAACTGTAATCCCTGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCACGCGCCTATCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTTGCACTCCAGCCTGGGTGACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTAGGCTGAGCTCTACACAGAGACTATGGCTGTGACTCCCCACCAGGCCTGGGCTGGAATTGAGATTGCTCCAAGTCCTCCAGAAGGGCCCTTGGAAAGACCTGTGGTCCCAGCATCCTCTTTAGCCCCCCATCTCCCCTCTGTGTTTGTAAACTGTCCTACTGGGTCTTTTAGTGGCTTCCTTCTTCAGGACAAGAAAAATGCCCTTCTTTCCTCTCTCCTTCCCAAACAGCCTGACCTAGGGCTCTGCTGGAAAGGTAAGGCCCGATTCAGCACCCTCCCTGTTTTCTCCCCAGGCTTTACCACCCTGCAGCTGCAACTTTAGCCCTGGGAAACAGAGGGGAAGCTGGTAAGTAGAAGCCCTGTTGGGTGTTAATAGGGATGTAGAGCTCCACCTTCCTAGATAAGAGGAGACAGCAGGAGTCCTGCTAGGTTACCTACCCAGGCGAAGGCCACACAGGTGTGGTACATGGGGGAGGAGGCTGGCACGAAGGTGCGGTAGCGGCAGAGCATCACCAGGCTGGCCAGGCCATTGAGAAACGAGGCCACGGCCGATGCCGGCTCTTGAAAGAACAGGAACCGGGAGAAGGGCCACTGAAAAAGGAGCAGATGAAGGAGGTTTGAAGGGCAGGCAACCCTCAACTGGCCCAGTCCACCTATTCTTGACATGCTGAAGCAACAGGTCCTCAGCTGAGTCCTCAGCTCTGGAGTTTGGCCAAAGCCTCAGGTTCAGTACCTCTTCAGACTAATGAGCCACCCTCCAGTGCCTAGTTAAGAGTTATACCCCCATCCTGGCCAGCAGGCACAGCACTGTAAGCCCTGATCTCTGGGAAGACCAGATGGGTCAGGGTAGATGACTCAGTATGGCCTGGTGGAAACAGCACAGAGTTGCCATCCAGAAGACACAGGTCCCAACCCCTCCTCTACCACTGACCACGGTCCTTTGAGCCTCAGCTTACTCTGTGAAAAACTGGGGTGAATACTTCCTGCCAACCTCAACAGGCCAGAATGAGATAATACTGGATTGAAACGTACCAGCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGAGAGGGTCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTTAAAAAAAAAAAAAAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTCAGGCATGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAAAAAAAAACAAAAAACAAAAAACAAAAGAAAGAAAGGTACCAGCAAACTGTGCCTCGCTAGACAAGCTGAAGCATATTACTGTGAATCCAGACCCCTACTGGAGAAGCAACAGGAAACAAGCCACAGTAGGTAAGGGAATTTGTCCCTGCAGTAAGGTGGGCATCTCAACCACTCTAAGAGGCCCAGCACCACTCTCTGGGGAGACTCCAAAGCCTTCCAGATATTGCTACTCCAAATCCAGAGGCAGGACACATGGGTCCTATCCAATTCTATGGAAACCAGCAGATTTTGGGGAGAACAGGTAGCTGCCCCAAACACACACGCATTACCCCATGCCTCAGACTGCTTGGACAGTGTGGTCCAACCAGGGGGTATATTACTCCTACCACGCTACTACCATATGCCTACCCTGACCCTCCAACTCACCTTGCCATGGAACTGAGGCACTTTGTGACCTTCCTGGAGGTAGAGCCCAACGGTGACCCACATACACTCATACTTACAGTCGTCCCGACAGGTCCAGCCTGAAACAGACAAATGTGGCCTGGTGAACTCCCCAGCACAGAGAGGAAAGAGAGAGCATGAATGGGGTCCAAGCGCAAATGTAGGCCAAGAGGGCCTGTAAGTTGGAGAGAACCAGGAGAAATCTCAAAATTCTAGCTTCCCCTTTGAATGAATGAGAGATGATGAGATGTACACATAGGGGAAGGTGTATGTACGTATGTATGCATATTTTAGTGAGCAATTAGAGATATTCGTCTTTTTTTTGTTTGTTTTTTTGAGACAGTTTTGTTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGGTGGTCTTGAACTCCCAACCTCAGGTTATCTGCCTGCCTCTGCCACCTAAAGTGCGGGGATTGCAGGCACGAGCCACCGCACCCGGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTTTCATCCAGGCTGGAGTGCAGTGGGGAGAGCATGGCTCACCACAGCCTTGACCTCCTGGGCTCAAACGATCCTCCCACCTCAGCCTCCCAAGTAGCGAGACCACAATGTCTGGCTAATTCTTTTATTTTTTGTAGAGAAGGCATCTTGTCATGTTGCCTAGGCTAGT
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CTGGTCTACTGCATCCACTCCCGCCCCCTTCAATCTGTTCTCTACACAGTAGCCAGAATGAGCTTTCCAAAGGGCAAATCTATTCATGAAACAACTTTTCTCCTCAACCCTCATTTAAAATCCCTCCGTAGGCCGAGCACGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGCAGAGGTTGCAGCGAGCCAAGATAGCGCCACTGCACTCCAGCTGGGGCAACAGAGTGAGACTTTGTCTCAAATAAAATAAAATAAAATAAAATAAAATCCCTCCGTACTTCCTGATGCTTTGAGAGTCAAGATCTCCAATGTGAGGCTCTCCATGGCTGGCCCCATCCACCACCCATCAGTCCGCCCAGCTCACACCCACTCTCTGATTTCCTGCATGTCAGGCTGCCTGGAATGACCCTCCCTCTCTCCCACCTGGGCACTTTCTGAGACTTCTCTTTAGAAGCCTTCCCTTACTCTTCTCAAATTTACCTAGTTAACATTCATGCATCCTTCCCACCTTACCTTTAATGCCCCTTCCCCAGGGAAGCCTTCCCTGATGGCCCCATGCTGGTCTTGGTCTGCCTTTACACACACCCCTGAAGCACCTCTCCCCGACTGCACTTTTTCATAGTTGTACTCTTACATTCAATTGTATGATTAGCACCAGAGGGCAGACTTCTGGATCTCCAGCAAAGTGCCTGGCATATAGTAGGTGCTCAACACCTGAGTGAATGGCTTCTGTGAGAGCAGGAAGGTGAGTGAATGGAAATTTTTTCCTTAAGGCTTACAGGGGCAGCTCCGACCTAGAGACATCCGTTGCAACCTTTCATTCTCACACCCTTCCCAAGGCCGTCACGGTCCATATCTGCACCCCAGTCTGTGCTTATCACACAATACCAGGCCCTGAATACAGCTCTTTAGACCAGCCGTACTGTGAAGCTGACAGCCCTTTCTGCACCTGCAGATGTAACCATACCTGGGCTTCTCCAGGGATGGTCTAAGCCTAGGCTGAGCTCGCCAGGTGCAGTGACTCACAACTGTAATCCCTGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCACGCGCCTATCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTTGCACTCCAGCCTGGGTGACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTAGGCTGAGCTCTACACAGAGACTATGGCTGTGACTCCCCACCAGGCCTGGGCTGGAATTGAGATTGCTCCAAGTCCTCCAGAAGGGCCCTTGGAAAGACCTGTGGTCCCAGCATCCTCTTTAGCCCCCCATCTCCCCTCTGTGTTTGTAAACTGTCCTACTGGGTCTTTTAGTGGCTTCCTTCTTCAGGACAAGAAAAATGCCCTTCTTTCCTCTCTCCTTCCCAAACAGCCTGACCTAGGGCTCTGCTGGAAAGGTAAGGCCCGATTCAGCACCCTCCCTGTTTTCTCCCCAGGCTTTACCACCCTGCAGCTGCAACTTTAGCCCTGGGAAACAGAGGGGAAGCTGGTAAGTAGAAGCCCTGTTGGGTGTTAATAGGGATGTAGAGCTCCACCTTCCTAGATAAGAGGAGACAGCAGGAGTCCTGCTAGGTTACCTACCCAGGCGAAGGCCACACAGGTGTGGTACATGGGGGAGGAGGCTGGCACGAAGGTGCGGTAGCGGCAGAGCATCACCAGGCTGGCCAGGCCATTGAGAAACGAGGCCACGGCCGATGCCCGCTCTTGAAAGAACAGGAACCGGGAGAAGGGCCACTGAAAAAGGAGCAGATGAAGGAGGTTTGAAGGGCAGGCAACCCTCAACTGGCCCAGTCCACCTATTCTTGACATGCTGAAGCAACAGGTCCTCAGCTGAGTCCTCAGCTCTGGAGTTTGGCCAAAGCCTCAGGTTCAGTACCTCTTCAGACTAATGAGCCACCCTCCAGTGCCTAGTTAAGAGTTATACCCCCATCCTGGCCAGCAGGCACAGCACTGTAAGCCCTGATCTCTGGGAAGACCAGATGGGTCAGGGTAGATGACTCAGTATGGCCTGGTGGAAACAGCACAGAGTTGCCATCCAGAAGACACAGGTCCCAACCCCTCCTCTACCACTGACCACGGTCCTTTGAGCCTCAGCTTACTCTGTGAAAAACTGGGGTGAATACTTCCTGCCAACCTCAACAGGCCAGAATGAGATAATACTGGATTGAAACGTACCAGCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGAGAGGGTCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTTAAAAAAAAAAAAAAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTCAGGCATGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAAAAAAAAACAAAAAACAAAAAACAAAAGAAAGAAAGGTACCAGCAAACTGTGCCTCGCTAGACAAGCTGAAGCATATTACTGTGAATCCAGACCCCTACTGGAGAAGCAACAGGAAACAAGCCACAGTAGGTAAGGGAATTTGTCCCTGCAGTAAGGTGGGCATCTCAACCACTCTAAGAGGCCCAGCACCACTCTCTGGGGAGACTCCAAAGCCTTCCAGATATTGCTACTCCAAATCCAGAGGCAGGACACATGGGTCCTATCCAATTCTATGGAAACCAGCAGATTTTGGGGAGAACAGGTAGCTGCCCCAAACACACACGCATTACCCCATGCCTCAGACTGCTTGGACAGTGTGGTCCAACCAGGGGGTATATTACTCCTACCACGCTACTACCATATGCCTACCCTGACCCTCCAACTCACCTTGCCATGGAACTGAGGCACTTTGTGACCTTCCTGGAGGTAGAGCCCAACGGTGACCCACATACACTCATACTTACAGTCGTCCCGACAGGTCCAGCCTGAAACAGACAAATGTGGCCTGGTGAACTCCCCAGCACAGAGAGGAAAGAGAGAGCATGAATGGGGTCCAAGCGCAAATGTAGGCCAAGAGGGCCTGTAAGTTGGAGAGAACCAGGAGAAATCTCAAAATTCTAGCTTCCCCTTTGAATGAATGAGAGATGATGAGATGTACACATAGGGGAAGGTGTATGTACGTATGTATGCATATTTTAGTGAGCAATTAGAGATATTCGTCTTTTTTTTGTTTGTTTTTTTGAGACAGTTTTGTTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGGTGGTCTTGAACTCCCAACCTCAGGTTATCTGCCTGCCTCTGCCACCTAAAGTGCGGGGATTGCAGGCACGAGCCACCGCACCCGGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTTTCATCCAGGCTGGAGTGCAGTGGGGAGAGCATGGCTCACCACAGCCTTGACCTCCTGGGCTCAAACGATCCTCCCACCTCAGCCTCCCAAGTAGCGAGACCACAATGTCTGGCTAATTCTTTTATTTTTTGTAGAGAAGGCATCTTGTCATGTTGCCTAGGCTAGT
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Task1_train_24221
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The gene PGAP3 (post-GPI attachment to proteins phospholipase 3) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Hyperphosphatasia with intellectual disability syndrome 4
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ACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCACGCGCCTATCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTTGCACTCCAGCCTGGGTGACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTAGGCTGAGCTCTACACAGAGACTATGGCTGTGACTCCCCACCAGGCCTGGGCTGGAATTGAGATTGCTCCAAGTCCTCCAGAAGGGCCCTTGGAAAGACCTGTGGTCCCAGCATCCTCTTTAGCCCCCCATCTCCCCTCTGTGTTTGTAAACTGTCCTACTGGGTCTTTTAGTGGCTTCCTTCTTCAGGACAAGAAAAATGCCCTTCTTTCCTCTCTCCTTCCCAAACAGCCTGACCTAGGGCTCTGCTGGAAAGGTAAGGCCCGATTCAGCACCCTCCCTGTTTTCTCCCCAGGCTTTACCACCCTGCAGCTGCAACTTTAGCCCTGGGAAACAGAGGGGAAGCTGGTAAGTAGAAGCCCTGTTGGGTGTTAATAGGGATGTAGAGCTCCACCTTCCTAGATAAGAGGAGACAGCAGGAGTCCTGCTAGGTTACCTACCCAGGCGAAGGCCACACAGGTGTGGTACATGGGGGAGGAGGCTGGCACGAAGGTGCGGTAGCGGCAGAGCATCACCAGGCTGGCCAGGCCATTGAGAAACGAGGCCACGGCCGATGCCGGCTCTTGAAAGAACAGGAACCGGGAGAAGGGCCACTGAAAAAGGAGCAGATGAAGGAGGTTTGAAGGGCAGGCAACCCTCAACTGGCCCAGTCCACCTATTCTTGACATGCTGAAGCAACAGGTCCTCAGCTGAGTCCTCAGCTCTGGAGTTTGGCCAAAGCCTCAGGTTCAGTACCTCTTCAGACTAATGAGCCACCCTCCAGTGCCTAGTTAAGAGTTATACCCCCATCCTGGCCAGCAGGCACAGCACTGTAAGCCCTGATCTCTGGGAAGACCAGATGGGTCAGGGTAGATGACTCAGTATGGCCTGGTGGAAACAGCACAGAGTTGCCATCCAGAAGACACAGGTCCCAACCCCTCCTCTACCACTGACCACGGTCCTTTGAGCCTCAGCTTACTCTGTGAAAAACTGGGGTGAATACTTCCTGCCAACCTCAACAGGCCAGAATGAGATAATACTGGATTGAAACGTACCAGCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGAGAGGGTCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTTAAAAAAAAAAAAAAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTCAGGCATGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAAAAAAAAACAAAAAACAAAAAACAAAAGAAAGAAAGGTACCAGCAAACTGTGCCTCGCTAGACAAGCTGAAGCATATTACTGTGAATCCAGACCCCTACTGGAGAAGCAACAGGAAACAAGCCACAGTAGGTAAGGGAATTTGTCCCTGCAGTAAGGTGGGCATCTCAACCACTCTAAGAGGCCCAGCACCACTCTCTGGGGAGACTCCAAAGCCTTCCAGATATTGCTACTCCAAATCCAGAGGCAGGACACATGGGTCCTATCCAATTCTATGGAAACCAGCAGATTTTGGGGAGAACAGGTAGCTGCCCCAAACACACACGCATTACCCCATGCCTCAGACTGCTTGGACAGTGTGGTCCAACCAGGGGGTATATTACTCCTACCACGCTACTACCATATGCCTACCCTGACCCTCCAACTCACCTTGCCATGGAACTGAGGCACTTTGTGACCTTCCTGGAGGTAGAGCCCAACGGTGACCCACATACACTCATACTTACAGTCGTCCCGACAGGTCCAGCCTGAAACAGACAAATGTGGCCTGGTGAACTCCCCAGCACAGAGAGGAAAGAGAGAGCATGAATGGGGTCCAAGCGCAAATGTAGGCCAAGAGGGCCTGTAAGTTGGAGAGAACCAGGAGAAATCTCAAAATTCTAGCTTCCCCTTTGAATGAATGAGAGATGATGAGATGTACACATAGGGGAAGGTGTATGTACGTATGTATGCATATTTTAGTGAGCAATTAGAGATATTCGTCTTTTTTTTGTTTGTTTTTTTGAGACAGTTTTGTTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGGTGGTCTTGAACTCCCAACCTCAGGTTATCTGCCTGCCTCTGCCACCTAAAGTGCGGGGATTGCAGGCACGAGCCACCGCACCCGGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTTTCATCCAGGCTGGAGTGCAGTGGGGAGAGCATGGCTCACCACAGCCTTGACCTCCTGGGCTCAAACGATCCTCCCACCTCAGCCTCCCAAGTAGCGAGACCACAATGTCTGGCTAATTCTTTTATTTTTTGTAGAGAAGGCATCTTGTCATGTTGCCTAGGCTAGTCTTGAACTCCAGGGCTCAGATGATCTTTCTACCTTGGCAGACATTTCCTCTCCTTTTGCTCAAGTCCATCAAGATGTTGGCATCTGATGAACTCATCTATGGAAACCTGGGTTTATATTTGTCCTTCCTGAATATAGGATTTGCTCTTACTCTCCTGGAAGGAGTTCTTGCTATCTTACTCCCTTCCTATGAAAATGAAGCCCAAATTCTTCAACCTGACTTTTGAGGCTCCAAATTGCCTTTCCAACCGTATTGGTCACTACTCCTGTTCATGTACCCTGCTCCCTGAGTAAATAAAGCTCCTGGATGTGCCCACATCTGCCCAGGGCATCCATTCTCTCTGTTCCCTCTGTCTGGAATGCAAAGTGGTATAATAGTAAAGAGGACAAGCTTGTGGTCAAACAGGCCAGAACTGGAAACTCCACTTTACTACATACTGGCTGTGTGACCTTGGGCAGGGCATTTAATCTCTCTAATCCCCATCTGTAAAACTGGGATTAGAGAAACTATCTCAAAGGGTGTGATAAAAATTACTTGACATATTGTGACACCTGTCACACAGTGAGTGCTCAATACGTTGGTTCTTTGCCCACTATGGTCCAAATCGAATGTACCAGTCCAAAGTCCCTCCTTCAAACAAAACGTTCCAAGATGATCCCTGCCCCCACGTCTTCAAAGCCGGAACTGACACCTTCCTATCCCAAATGCTTCCTAATCAAAGAGTCTTTCAGGGGCTCAAATCATTCTCTGCCTTGCACTTGAAAAGGCTCATGTCCCCGTGGGGACTGTGAGTCCCAATGGGCGGGACCCTGGTCTGATTTCTGTGCCATTCCTAGACATTGTGGCCCGAATGTATTTAATAAATACCCTTTTGACTGAACAAATAAGTAAATGAAAGCTTCTGGGAAAGTAAGAGAGGCTGGTAAGGCTCTCATCACCTTAGGGGCTTCACTCACATTCATAAGAGACCTCGTGGGGAAACTAAGGTTCAGGGATTGCAGAGGCGTATTGGGGGCGCAGGGGGCGGGAGCAAGACAAATGGGCGGGGCTTACCGTGGGGGTGGGGCTTACCTGCTAGACTCATGTAGATTGGCTGGCGGGAGCGGAAGTGATTCAGAGCGCCCCCAGAGCAGTTCTGCTCTTCGCACTGCAGTACGCAGTCGCGGTACACCGGCTCACGGTCGCCCTGGGAGCCGCTCGCCAGCGCCGCT
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ACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCACGCGCCTATCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTTGCACTCCAGCCTGGGTGACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTAGGCTGAGCTCTACACAGAGACTATGGCTGTGACTCCCCACCAGGCCTGGGCTGGAATTGAGATTGCTCCAAGTCCTCCAGAAGGGCCCTTGGAAAGACCTGTGGTCCCAGCATCCTCTTTAGCCCCCCATCTCCCCTCTGTGTTTGTAAACTGTCCTACTGGGTCTTTTAGTGGCTTCCTTCTTCAGGACAAGAAAAATGCCCTTCTTTCCTCTCTCCTTCCCAAACAGCCTGACCTAGGGCTCTGCTGGAAAGGTAAGGCCCGATTCAGCACCCTCCCTGTTTTCTCCCCAGGCTTTACCACCCTGCAGCTGCAACTTTAGCCCTGGGAAACAGAGGGGAAGCTGGTAAGTAGAAGCCCTGTTGGGTGTTAATAGGGATGTAGAGCTCCACCTTCCTAGATAAGAGGAGACAGCAGGAGTCCTGCTAGGTTACCTACCCAGGCGAAGGCCACACAGGTGTGGTACATGGGGGAGGAGGCTGGCACGAAGGTGCGGTAGCGGCAGAGCATCACCAGGCTGGCCAGGCCATTGAGAAACGAGGCCACGGCCGATGCCGGCTCTTGAAAGAACAGGAACCGGGAGAAGGGCCACTGAAAAAGGAGCAGATGAAGGAGGTTTGAAGGGCAGGCAACCCTCAACTGGCCCAGTCCACCTATTCTTGACATGCTGAAGCAACAGGTCCTCAGCTGAGTCCTCAGCTCTGGAGTTTGGCCAAAGCCTCAGGTTCAGTACCTCTTCAGACTAATGAGCCACCCTCCAGTGCCTAGTTAAGAGTTATACCCCCATCCTGGCCAGCAGGCACAGCACTGTAAGCCCTGATCTCTGGGAAGACCAGATGGGTCAGGGTAGATGACTCAGTATGGCCTGGTGGAAACAGCACAGAGTTGCCATCCAGAAGACACAGGTCCCAACCCCTCCTCTACCACTGACCACGGTCCTTTGAGCCTCAGCTTACTCTGTGAAAAACTGGGGTGAATACTTCCTGCCAACCTCAACAGGCCAGAATGAGATAATACTGGATTGAAACGTACCAGCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGAGAGGGTCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTTAAAAAAAAAAAAAAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTCAGGCATGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAAAAAAAAACAAAAAACAAAAAACAAAAGAAAGAAAGGTACCAGCAAACTGTGCCTCGCTAGACAAGCTGAAGCATATTACTGTGAATCCAGACCCCTACTGGAGAAGCAACAGGAAACAAGCCACAGTAGGTAAGGGAATTTGTCCCTGCAGTAAGGTGGGCATCTCAACCACTCTAAGAGGCCCAGCACCACTCTCTGGGGAGACTCCAAAGCCTTCCAGATATTGCTACTCCAAATCCAGAGGCAGGACACATGGGTCCTATCCAATTCTATGGAAACCAGCAGATTTTGGGGAGAACAGGTAGCTGCCCCAAACACACACGCATTACCCCATGCCTCAGACTGCTTGGACAGTGTGGTCCAACCAGGGGGTATATTACTCCTACCACGCTACTACCATATGCCTACCCTGACCCTCCAACTCACCTTGTCATGGAACTGAGGCACTTTGTGACCTTCCTGGAGGTAGAGCCCAACGGTGACCCACATACACTCATACTTACAGTCGTCCCGACAGGTCCAGCCTGAAACAGACAAATGTGGCCTGGTGAACTCCCCAGCACAGAGAGGAAAGAGAGAGCATGAATGGGGTCCAAGCGCAAATGTAGGCCAAGAGGGCCTGTAAGTTGGAGAGAACCAGGAGAAATCTCAAAATTCTAGCTTCCCCTTTGAATGAATGAGAGATGATGAGATGTACACATAGGGGAAGGTGTATGTACGTATGTATGCATATTTTAGTGAGCAATTAGAGATATTCGTCTTTTTTTTGTTTGTTTTTTTGAGACAGTTTTGTTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGGTGGTCTTGAACTCCCAACCTCAGGTTATCTGCCTGCCTCTGCCACCTAAAGTGCGGGGATTGCAGGCACGAGCCACCGCACCCGGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTTTCATCCAGGCTGGAGTGCAGTGGGGAGAGCATGGCTCACCACAGCCTTGACCTCCTGGGCTCAAACGATCCTCCCACCTCAGCCTCCCAAGTAGCGAGACCACAATGTCTGGCTAATTCTTTTATTTTTTGTAGAGAAGGCATCTTGTCATGTTGCCTAGGCTAGTCTTGAACTCCAGGGCTCAGATGATCTTTCTACCTTGGCAGACATTTCCTCTCCTTTTGCTCAAGTCCATCAAGATGTTGGCATCTGATGAACTCATCTATGGAAACCTGGGTTTATATTTGTCCTTCCTGAATATAGGATTTGCTCTTACTCTCCTGGAAGGAGTTCTTGCTATCTTACTCCCTTCCTATGAAAATGAAGCCCAAATTCTTCAACCTGACTTTTGAGGCTCCAAATTGCCTTTCCAACCGTATTGGTCACTACTCCTGTTCATGTACCCTGCTCCCTGAGTAAATAAAGCTCCTGGATGTGCCCACATCTGCCCAGGGCATCCATTCTCTCTGTTCCCTCTGTCTGGAATGCAAAGTGGTATAATAGTAAAGAGGACAAGCTTGTGGTCAAACAGGCCAGAACTGGAAACTCCACTTTACTACATACTGGCTGTGTGACCTTGGGCAGGGCATTTAATCTCTCTAATCCCCATCTGTAAAACTGGGATTAGAGAAACTATCTCAAAGGGTGTGATAAAAATTACTTGACATATTGTGACACCTGTCACACAGTGAGTGCTCAATACGTTGGTTCTTTGCCCACTATGGTCCAAATCGAATGTACCAGTCCAAAGTCCCTCCTTCAAACAAAACGTTCCAAGATGATCCCTGCCCCCACGTCTTCAAAGCCGGAACTGACACCTTCCTATCCCAAATGCTTCCTAATCAAAGAGTCTTTCAGGGGCTCAAATCATTCTCTGCCTTGCACTTGAAAAGGCTCATGTCCCCGTGGGGACTGTGAGTCCCAATGGGCGGGACCCTGGTCTGATTTCTGTGCCATTCCTAGACATTGTGGCCCGAATGTATTTAATAAATACCCTTTTGACTGAACAAATAAGTAAATGAAAGCTTCTGGGAAAGTAAGAGAGGCTGGTAAGGCTCTCATCACCTTAGGGGCTTCACTCACATTCATAAGAGACCTCGTGGGGAAACTAAGGTTCAGGGATTGCAGAGGCGTATTGGGGGCGCAGGGGGCGGGAGCAAGACAAATGGGCGGGGCTTACCGTGGGGGTGGGGCTTACCTGCTAGACTCATGTAGATTGGCTGGCGGGAGCGGAAGTGATTCAGAGCGCCCCCAGAGCAGTTCTGCTCTTCGCACTGCAGTACGCAGTCGCGGTACACCGGCTCACGGTCGCCCTGGGAGCCGCTCGCCAGCGCCGCT
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Task1_train_24222
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Gene ERBB2 (erb-b2 receptor tyrosine kinase 2) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; not provided
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AGGGAAGGGGAGGGCTGGGGCCGGGTGGAATGCAGGTGTCATACAGGTGACATGGGAGGGGTGGGATAACAGGCTTGGGATGTCTCCCCTGGGCCAGGTAGTCTCCCTAGAAGGTGATGCTGATGAGGGTCTGGTGCCCAGGGCGCCACTCAGCCCTCATCCTGCCCTTTGCCCAACAGTGACGCGCACTGTCTGTGCCGGTGGCTGTGCCCGCTGCAAGGGGCCACTGCCCACTGACTGCTGCCATGAGCAGTGTGCTGCCGGCTGCACGGGCCCCAAGCACTCTGACTGCCTGGTATGTGCCTCTGCTTTGTGCCCAATGTGCTCTACCCCCCAGGATGCAAGGGGTGGGCACCCTGCCTGGTACTGCCCTATTGCCCCTGGCACACCAGGGCAAAACAGCACAGTGAAAGCCAGCCACCTGTCCCCCCAGGCCTGCCTCCACTTCAACCACAGTGGCATCTGTGAGCTGCACTGCCCAGCCCTGGTCACCTACAACACAGACACGTTTGAGTCCATGCCCAATCCCGAGGGCCGGTATACATTCGGCGCCAGCTGTGTGACTGCCTGTCCCTGTGAGTGCCAGGGAGAAACACAGTTTTCTCATTTTGGTGGGGAGGTTTGTTTCTGTAAATGGGAGCATATGGGGAGCACTGTCTGCATCTTGCTTTGAGAGCTGGTCATGACAGTTCCTGCCGAGCTGCCTTGTTCTTTCAACAGCTGTGGAGCAGGTGGCAGTAAGGAGAGGCAGCTAAGAGCCCAGACTTGGGAGCCAGACTGCCTGGGTTTGAAACCCAGCTCTATCAATTAGTAGGCACGTGACCCTCTTGCTGTGCCTCAGTTTCCTCATCAGTAAAATGGGGGCAAGAATAGTCCCAACTGCATAAGATGGTTATAACATTTGAAAGAGTTAATATTTGTAAAGCTCTTAGAACGGTGCCTGGTATGTACTAAGTGCTCCTAAATGTTAGCTTTTATTCTATAGCCTGGTGAGGTCAGTTTTACCTTTCGTTTTGTTTTTGAGACCGAATTTAGTTAGCTCTATCGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCGTGCTATTCTCGTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCATGCCTCGCTAAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACTGGTCTCGAACTCCTGACTTCAGGCGATCCACCTGCCTCGGCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGACTTTTTTTTTTTTGGCAGAGTCTCGCTCCATTGCCCAGGCTGGAGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCTGCCTTCCGCATTCAAGCAATTCTTGTGCCTCAGACTCTTGAGTAGGTGGAACTACAGGCATGCACCACCATGGCTGGGTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACTATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCGTGCCTGGCCTAGCTCAGTTTTATTTAACAGATCACCTATTTACTGATGGGCGTTTATGGACTGGGCTCAGACCTGGGGAACCTCTTTCCTCCTCTCACAGGAACAGGAGTGGGCCTTCAGATCCTGGCTGACTGTGTTAGGGAGAGGACAAAATGTAGAGCCAGACCATTTGGGTTCAAATCCTCGCTCCTCCACTCACTAGCACAATGACCTTGAATAATTTACAGAACTCTCTGCTTTGGTCTCCCTTTTTGCAAAATGGGAATCTCACAGTGCTGATCCCGTCTGGTTGTTGTGAGGGGTAAATGGATGTCAGGTGCTGATGCGTGGTAGGGCATTTAAGTATTGGTTGATATTATTCTTCTTGTGCCTGGGCACGGTAATGCTGCTCATGGTGGTGCACGAAGGGCCAGGGTATGTGGCTACATGTTCCTGATCTCCTTAGACAACTACCTTTCTACGGACGTGGGATCCTGCACCCTCGTCTGCCCCCTGCACAACCAAGAGGTGACAGCAGAGGATGGAACACAGCGGTGTGAGAAGTGCAGCAAGCCCTGTGCCCGAGGTACCCACTCACTGCCCCCGAGGCCAGCTGCAGTTCCTGTCCCTCTGCGCATGCAGCCTGGCCCAGCCCACCCTGTCCTATCCTTCCTCAGACCCTCTTGGGACCTAGTCTCTGCCTTCTACTCTCTACCCCTGGCCCCCCTCAGCCCTACAAGTGTCCCTATATCCCCTGTCAGTGTGGGGAGGGGCCCGGACCCTGATGCTCATGTGGCTGTTGACCTGTCCCGGTATGAAGGCTGAGACGGCCCCTTCCCCACCCACCCCCACCTCCTCAGTGTGCTATGGTCTGGGCATGGAGCACTTGCGAGAGGTGAGGGCAGTTACCAGTGCCAATATCCAGGAGTTTGCTGGCTGCAAGAAGATCTTTGGGAGCCTGGCATTTCTGCCGGAGAGCTTTGATGGGTAAGAGTGGGCACGATGACCTGAGACAGTGTCAGGGCAGACAGAGTCCTGAGGATCCAGATGTGGCAGCATCTCTTGGGGATGGCAGGAGACAGAAGTGGGGGGATCAAGAATGCAAAGAAAGCAGATGGGAGACCAGAGGAGCAGGGCCTTTGGTGGGTGGGGGTGATTATTTTTGTAAATGACATGCTATCCGTGAACAAGGACTTGTATGGAGGTCAGACCATCTAGATAAAGTAAAATTCCCTTTGAGTTCATAGCAGCTTTATTCAAAATATCCCCAAATTGGAAATAACTCAAATGTGCATCACTAGGTGAAGGAATAAACAAGTGGCAGTGTATCCATTTGGTGAAGTTCTACTTAGCAACCAAAGGAAATGAACTACCGATACAACATAAATGAATCTCAGAAACATTACATTGAGCAAAAGAAGCCAGAGACAAGATTCCATACTGTCTGATCCCCTTTATGTGAGGCTCTGAACCGAAAAAACCACTCTGTGGTGGGAGAGATCAGAACGGTGGTTGCCCCAGGGTGGGGGGCTTCAAAAGGGAGGCACACAAGGACATTTCTGGGGTAATAGAAATGCTCTGTATAGTGATTGGGGTAGTGGATACATGAGCGAATCCATTTGTCAAAACTCATCAAACTGTGTGATAAGAGTCTGTGCATTTTATTTATTTCATTTTATTTTTTGAGATAGAGTCTCACTCTGTCAGCAGGCTGGAGTGCAGTGGTACGATCTTGGCTCACTGCAACCTCTGCCTCCTGGATTCAAGCAATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCAAGGATGGTCTCGATCTCTTGACGTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGTGCATTTTATTGTATATAAGTTATACTTCAATAAGAAATGAATTGGGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATATAAAAAATTAGCCAGGCTTCCTGGCATGCGCCTATCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACTCGGGAGGTGGAGGTTGTAGTGAGCTGAGATTTCGCTATTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAAAGGGTCAGGCGCCGTGGTGCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAAGATTGCTTGAGCCCAGGAATTCAAGAACAGCGTGGGCAACATAGTGAGATCCCATCTCTACAAAAAAACACAAAAAATTAGCCGGGCATGGTGGTACGCACCTGTAGTCTCAGCTACTAGGGAGACTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTGGAGGTTGCAGTG
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AGGGAAGGGGAGGGCTGGGGCCGGGTGGAATGCAGGTGTCATACAGGTGACATGGGAGGGGTGGGATAACAGGCTTGGGATGTCTCCCCTGGGCCAGGTAGTCTCCCTAGAAGGTGATGCTGATGAGGGTCTGGTGCCCAGGGCGCCACTCAGCCCTCATCCTGCCCTTTGCCCAACAGTGACGCGCACTGTCTGTGCCGGTGGCTGTGCCCGCTGCAAGGGGCCACTGCCCACTGACTGCTGCCATGAGCAGTGTGCTGCCGGCTGCACGGGCCCCAAGCACTCTGACTGCCTGGTATGTGCCTCTGCTTTGTGCCCAATGTGCTCTACCCCCCAGGATGCAAGGGGTGGGCACCCTGCCTGGTACTGCCCTATTGCCCCTGGCACACCAGGGCAAAACAGCACAGTGAAAGCCAGCCACCTGTCCCCCCAGGCCTGCCTCCACTTCAACCACAGTGGCATCTGTGAGCTGCACTGCCCAGCCCTGGTCACCTACAACACAGACACGTTTGAGTCCATGCCCAATCCCGAGGGCCGGTATACATTCGGCGCCAGCTGTGTGACTGCCTGTCCCTGTGAGTGCCAGGGAGAAACACAGTTTTCTCATTTTGGTGGGGAGGTTTGTTTCTGTAAATGGGAGCATATGGGGAGCACTGTCTGCATCTTGCTTTGAGAGCTGGTCATGACAGTTCCTGCCGAGCTGCCTTGTTCTTTCAACAGCTGTGGAGCAGGTGGCAGTAAGGAGAGGCAGCTAAGAGCCCAGACTTGGGAGCCAGACTGCCTGGGTTTGAAACCCAGCTCTATCAATTAGTAGGCACGTGACCCTCTTGCTGTGCCTCAGTTTCCTCATCAGTAAAATGGGGGCAAGAATAGTCCCAACTGCATAAGATGGTTATAACATTTGAAAGAGTTAATATTTGTAAAGCTCTTAGAACGGTGCCTGGTATGTACTAAGTGCTCCTAAATGTTAGCTTTTATTCTATAGCCTGGTGAGGTCAGTTTTACCTTTCGTTTTGTTTTTGAGACCGAATTTAGTTAGCTCTATCGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCGTGCTATTCTCGTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCATGCCTCGCTAAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACTGGTCTCGAACTCCTGACTTCAGGCGATCCACCTGCCTCGGCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGACTTTTTTTTTTTTGGCAGAGTCTCGCTCCATTGCCCAGGCTGGAGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCTGCCTTCCGCATTCAAGCAATTCTTGTGCCTCAGACTCTTGAGTAGGTGGAACTACAGGCATGCACCACCATGGCTGGGTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACTATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCGTGCCTGGCCTAGCTCAGTTTTATTTAACAGATCACCTATTTACTGATGGGCGTTTATGGACTGGGCTCAGACCTGGGGAACCTCTTTCCTCCTCTCACAGGAACAGGAGTGGGCCTTCAGATCCTGGCTGACTGTGTTAGGGAGAGGACAAAATGTAGAGCCAGACCATTTGGGTTCAAATCCTCGCTCCTCCACTCACTAGCACAATGACCTTGAATAATTTACAGAACTCTCTGCTTTGGTCTCCCTTTTTGCAAAATGGGAATCTCACAGTGCTGATCCCGTCTGGTTGTTGTGAGGGGTAAATGGATGTCAGGTGCTGATGCGTGGTAGGGCATTTAAGTATTGGTTGATATTATTCTTCTTGTGCCTGGGCACGGTAATGCTGCTCATGGTGGTGCACGAAGGGCCAGGGTATGTGGCTACATGTTCCTGATCTCCTTAGACAACTACCTTTCTACGGACGTGGGATACTGCACCCTCGTCTGCCCCCTGCACAACCAAGAGGTGACAGCAGAGGATGGAACACAGCGGTGTGAGAAGTGCAGCAAGCCCTGTGCCCGAGGTACCCACTCACTGCCCCCGAGGCCAGCTGCAGTTCCTGTCCCTCTGCGCATGCAGCCTGGCCCAGCCCACCCTGTCCTATCCTTCCTCAGACCCTCTTGGGACCTAGTCTCTGCCTTCTACTCTCTACCCCTGGCCCCCCTCAGCCCTACAAGTGTCCCTATATCCCCTGTCAGTGTGGGGAGGGGCCCGGACCCTGATGCTCATGTGGCTGTTGACCTGTCCCGGTATGAAGGCTGAGACGGCCCCTTCCCCACCCACCCCCACCTCCTCAGTGTGCTATGGTCTGGGCATGGAGCACTTGCGAGAGGTGAGGGCAGTTACCAGTGCCAATATCCAGGAGTTTGCTGGCTGCAAGAAGATCTTTGGGAGCCTGGCATTTCTGCCGGAGAGCTTTGATGGGTAAGAGTGGGCACGATGACCTGAGACAGTGTCAGGGCAGACAGAGTCCTGAGGATCCAGATGTGGCAGCATCTCTTGGGGATGGCAGGAGACAGAAGTGGGGGGATCAAGAATGCAAAGAAAGCAGATGGGAGACCAGAGGAGCAGGGCCTTTGGTGGGTGGGGGTGATTATTTTTGTAAATGACATGCTATCCGTGAACAAGGACTTGTATGGAGGTCAGACCATCTAGATAAAGTAAAATTCCCTTTGAGTTCATAGCAGCTTTATTCAAAATATCCCCAAATTGGAAATAACTCAAATGTGCATCACTAGGTGAAGGAATAAACAAGTGGCAGTGTATCCATTTGGTGAAGTTCTACTTAGCAACCAAAGGAAATGAACTACCGATACAACATAAATGAATCTCAGAAACATTACATTGAGCAAAAGAAGCCAGAGACAAGATTCCATACTGTCTGATCCCCTTTATGTGAGGCTCTGAACCGAAAAAACCACTCTGTGGTGGGAGAGATCAGAACGGTGGTTGCCCCAGGGTGGGGGGCTTCAAAAGGGAGGCACACAAGGACATTTCTGGGGTAATAGAAATGCTCTGTATAGTGATTGGGGTAGTGGATACATGAGCGAATCCATTTGTCAAAACTCATCAAACTGTGTGATAAGAGTCTGTGCATTTTATTTATTTCATTTTATTTTTTGAGATAGAGTCTCACTCTGTCAGCAGGCTGGAGTGCAGTGGTACGATCTTGGCTCACTGCAACCTCTGCCTCCTGGATTCAAGCAATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCAAGGATGGTCTCGATCTCTTGACGTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGTGCATTTTATTGTATATAAGTTATACTTCAATAAGAAATGAATTGGGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATATAAAAAATTAGCCAGGCTTCCTGGCATGCGCCTATCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACTCGGGAGGTGGAGGTTGTAGTGAGCTGAGATTTCGCTATTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAAAGGGTCAGGCGCCGTGGTGCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAAGATTGCTTGAGCCCAGGAATTCAAGAACAGCGTGGGCAACATAGTGAGATCCCATCTCTACAAAAAAACACAAAAAATTAGCCGGGCATGGTGGTACGCACCTGTAGTCTCAGCTACTAGGGAGACTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTGGAGGTTGCAGTG
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Task1_train_24223
|
This variant affects gene ERBB2 (erb-b2 receptor tyrosine kinase 2) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Visceral neuropathy, familial, 2, autosomal recessive
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CAAAGTGCTGGGATTACAGGTGTGAGCCATCGTGCCTGGCGGAGCCGAGTCTTAAAAGATGACCCTGTGGAGAAATGGTGGTCCAGGCTGAAGGGACAGCCTATGCAAACACTGGGAGGTGTGGAAAATCATGACCTGTGGGTGGAAATTTTGGCTAGAACATCAAAATCATCAGGTGTACATTCCTGTACCCATGCAGCAGTCAGAATCTCTGGGGGTGGGGCCCCAAAATTGTATGCATACAGACTGTGTGCTGATTTGTGATATTACTTAGGATTTTTTGACTTTACAATGGTGGAAAAGCAATAATATACATTCAGTATAAACCGTACTTTGAATACCCATACAGCCATTCTGTTTTTCACTTTTATTTTTATTTATTTATTTATTTATTATTTATTTTGAGATGTCATTTTGCTGTTGTTACCCAGGCTGGAGTGCAATGGCGCAGTCTTGGCTCACCGCAACCTCCACCTCTCAGGTTCAAACGATTCTCCTGCTTCAGCCTCCAGAGTGGCTGGGATTACAGGCAGGCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTAGTCAGGCTGGTCTCGAACTCGAGAGCTCAGGTGATCTGCCCATCTCAGCCTCAAGCCACCATGCCCAGCCCTACTTTCAGTATTCAATAAATTACATAGCCAGGCACCGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCAAGGTGGGAGGATCCTTTGAGGCCAGAAGCTCGAGACCAGCCTGGGCAACATAGTGAGACCCCATTTCTACAAAAAATAAAAAAACTAGCTGAGTGTGGTGGCGTGTGTCTGTAGTCCCAGCTACTTGGGCAGCTGAGGTGGAAAGACTGCTTGAGCCCAGAGGTCAGGGCTGCAGTGGGCCATGATCTCACCACTGCACTCAGCCTGGGCAACACAGCAAGGCCCTGTCTCAAAAATAAATAAATAAATAACACAAACTTATTTAACAGTTTACTATAAAATAGGCTTTGTGTCAGATGATTCTGCCCAACTGTAAGCTGCTGGCAGTGTAAATGTTCTGAGCACGTGTAAGCCAGGCTAGGTGTCTTAAATGCATTTTCAGTTTCAACTTAGAATTGGTTTATCAGGACGTAGCCCCTTGGTGTTGAGGGGCATGTGTATTAACAGTCTCCTTAGTGACTTTTTTTTTTTTGAGATGGAGTCTTGCACTGGCCGTAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTTGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGCACCCACACCACGCCCAGCTAATTTTTGTGTGTGTGTATTTTTAGTAGAGACGGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTCAGACTCTCAAAGTGCTAGGATTCCAGGCATGAGCCACCGCGCCCAGAGTCCTTAGTGATTTTTACACCATGAATTGTTGAAGCCCTAAGCCAGAGCCAAGGGCAAGAGTATAGAGAATCTGGAGATGCGGAGAGGGTTCTGATTGCCTACAAGGAGTTTGGACTTTATTGTGGAGGCAGCGGGGAGCCAAGGCAGGTTTTAGAGTAGGAGAGGGTCCAAGCCTGTGGGTCACCCTTCCGACTTCCCTTTCCGAATGCCAAACACCTTCATGTCCCCCGTGGGCCCCCTTTGTCCCTCCCACCCCAAACTAGCCCTCAATCCCTGACCCTGGCTTCCGCCCCCAGCCCTCTGACGTCCATCATCTCTGCGGTGGTTGGCATTCTGCTGGTCGTGGTCTTGGGGGTGGTCTTTGGGATCCTCATCAAGCGACGGCAGCAGAAGATCCGGAAGTACACGATGCGGAGACTGCTGCAGGAAACGGAGGTGAGGCGGGGTGAAGTCCTCCCAGCCCGCGTGGGGTCTGCACCGGCCCCCGGCACTGACCCACCACCCCCTCACCCCAGCTGGTGGAGCCGCTGACACCTAGCGGAGCGATGCCCAACCAGGCGCAGATGCGGATCCTGAAAGAGACGGAGCTGAGGAAGGTGAAGGTGCTTGGATCTGGCGCTTTTGGCACAGTCTACAAGGTCAGGGCCAGGTCCTGGGGTGGGCGGCCCCAGAGGATGGGGGCGGTGCCTGGAGGGGTGTGGTCGGCAGTTCTGATGGGAGGGGCAAGAGCTGGAGGCAGTGTTTGGGGGAGGGCAGTTACAGCGGAGAAGGGAGCGGGGCCAAGCCCTAGGGTGGTGAAGGATGTTTGGAGGACAAGTAATGATCTCCTGGAAGGCAGGTAGGATCCAGCCCACGCTCTTCTCACTCATATCCTCCTCTTTCTGCCCAGGGCATCTGGATCCCTGATGGGGAGAATGTGAAAATTCCAGTGGCCATCAAAGTGTTGAGGGAAAACACATCCCCCAAAGCCAACAAAGAAATCTTAGACGTAAGCCCCTCCACCCTCTCCTGCTAGGAGGACAGGAAGGACCCCATGGCTGCAGGTCTGGGCTCTGGTCTCTCTTCATTGGGGTTTGGGGAGATATGACTCCCGCAAACCTAGACTATTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTTATCTCGGCTCACTGCAACCTCCACCTCCTGGACTCAAGCGATTTTCATGCCTCAGGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCGAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGTTGGTGTCAAACTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAATCTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTACTTTGAGCCTTCACAGGCTGTGGGCCATGGCTGTGGTTTGTGATGGTTGGGAGGCTGTGTGGTGTTTGGGGGTGTGTGGTCTCCCATACCCTCTCAGCGTACCCTTGTCCCCAGGAAGCATACGTGATGGCTGGTGTGGGCTCCCCATATGTCTCCCGCCTTCTGGGCATCTGCCTGACATCCACGGTGCAGCTGGTGACACAGCTTATGCCCTATGGCTGCCTCTTAGACCATGTCCGGGAAAACCGCGGACGCCTGGGCTCCCAGGACCTGCTGAACTGGTGTATGCAGATTGCCAAGGTATGCACCTGGGCTCTTTGCAGGTCTCTCCGGAGCAAACCCCTATGTCCACAAGGGGCTAGGATGGGGACTCTTGCTGGGCATGTGGCCAGGCCCAGGCCCTCCCAGAAGGTCTACATGGGTGCTTCCCATTCCAGGGGATGAGCTACCTGGAGGATGTGCGGCTCGTACACAGGGACTTGGCCGCTCGGAACGTGCTGGTCAAGAGTCCCAACCATGTCAAAATTACAGACTTCGGGCTGGCTCGGCTGCTGGACATTGACGAGACAGAGTACCATGCAGATGGGGGCAAGGTTAGGTGAAGGACCAAGGAGCAGAGGAGGCTGGGTGGAGTGGTGTCTAGCCCATGGGAGAACTCTGAGTGGCCACCTCCCCACAACACACAGTTGGAGGACTTCCTCTTCTGCCCTCCCAGGTGCCCATCAAGTGGATGGCGCTGGAGTCCATTCTCCGCCGGCGGTTCACCCACCAGAGTGATGTGTGGAGTTATGGTGTGTGATGGGGGGTGTTGGGAGGGGTGGGTGAGGAGCCATGGCTGGAGGGAGGATGAGAGCTGGGATGGGGAGAATTACGGGGCCACCTCAGCATGTGAAGGGAGGGAAGGGGCTGCCTGTGCCCCACCTTGCAGGGTCTGTGCACTTCCCAGGATTAGGGAAAGACCGGGTAGGGTCTGTCTCCTGGCATCACATCTCCCCCTGCTACCTGCCATGATGCTAG
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CAAAGTGCTGGGATTACAGGTGTGAGCCATCGTGCCTGGCGGAGCCGAGTCTTAAAAGATGACCCTGTGGAGAAATGGTGGTCCAGGCTGAAGGGACAGCCTATGCAAACACTGGGAGGTGTGGAAAATCATGACCTGTGGGTGGAAATTTTGGCTAGAACATCAAAATCATCAGGTGTACATTCCTGTACCCATGCAGCAGTCAGAATCTCTGGGGGTGGGGCCCCAAAATTGTATGCATACAGACTGTGTGCTGATTTGTGATATTACTTAGGATTTTTTGACTTTACAATGGTGGAAAAGCAATAATATACATTCAGTATAAACCGTACTTTGAATACCCATACAGCCATTCTGTTTTTCACTTTTATTTTTATTTATTTATTTATTTATTATTTATTTTGAGATGTCATTTTGCTGTTGTTACCCAGGCTGGAGTGCAATGGCGCAGTCTTGGCTCACCGCAACCTCCACCTCTCAGGTTCAAACGATTCTCCTGCTTCAGCCTCCAGAGTGGCTGGGATTACAGGCAGGCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTAGTCAGGCTGGTCTCGAACTCGAGAGCTCAGGTGATCTGCCCATCTCAGCCTCAAGCCACCATGCCCAGCCCTACTTTCAGTATTCAATAAATTACATAGCCAGGCACCGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCAAGGTGGGAGGATCCTTTGAGGCCAGAAGCTCGAGACCAGCCTGGGCAACATAGTGAGACCCCATTTCTACAAAAAATAAAAAAACTAGCTGAGTGTGGTGGCGTGTGTCTGTAGTCCCAGCTACTTGGGCAGCTGAGGTGGAAAGACTGCTTGAGCCCAGAGGTCAGGGCTGCAGTGGGCCATGATCTCACCACTGCACTCAGCCTGGGCAACACAGCAAGGCCCTGTCTCAAAAATAAATAAATAAATAACACAAACTTATTTAACAGTTTACTATAAAATAGGCTTTGTGTCAGATGATTCTGCCCAACTGTAAGCTGCTGGCAGTGTAAATGTTCTGAGCACGTGTAAGCCAGGCTAGGTGTCTTAAATGCATTTTCAGTTTCAACTTAGAATTGGTTTATCAGGACGTAGCCCCTTGGTGTTGAGGGGCATGTGTATTAACAGTCTCCTTAGTGACTTTTTTTTTTTTGAGATGGAGTCTTGCACTGGCCGTAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTTGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGCACCCACACCACGCCCAGCTAATTTTTGTGTGTGTGTATTTTTAGTAGAGACGGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTCAGACTCTCAAAGTGCTAGGATTCCAGGCATGAGCCACCGCGCCCAGAGTCCTTAGTGATTTTTACACCATGAATTGTTGAAGCCCTAAGCCAGAGCCAAGGGCAAGAGTATAGAGAATCTGGAGATGCGGAGAGGGTTCTGATTGCCTACAAGGAGTTTGGACTTTATTGTGGAGGCAGCGGGGAGCCAAGGCAGGTTTTAGAGTAGGAGAGGGTCCAAGCCTGTGGGTCACCCTTCCGACTTCCCTTTCCGAATGCCAAACACCTTCATGTCCCCCGTGGGCCCCCTTTGTCCCTCCCACCCCAAACTAGCCCTCAATCCCTGACCCTGGCTTCCGCCCCCAGCCCTCTGACGTCCATCATCTCTGCGGTGGTTGGCATTCTGCTGGTCGTGGTCTTGGGGGTGGTCTTTGGGATCCTCATCAAGCGACGGCAGCAGAAGATCCGGAAGTACACGATGCGGAGACTGCTGCAGGAAACGGAGGTGAGGCGGGGTGAAGTCCTCCCAGCCCGCGTGGGGTCTGCACCGGCCCCCGGCACTGACCCACCACCCCCTCACCCCAGCTGGTGGAGCCGCTGACACCTAGCGGAGCGATGCCCAACCAGGTGCAGATGCGGATCCTGAAAGAGACGGAGCTGAGGAAGGTGAAGGTGCTTGGATCTGGCGCTTTTGGCACAGTCTACAAGGTCAGGGCCAGGTCCTGGGGTGGGCGGCCCCAGAGGATGGGGGCGGTGCCTGGAGGGGTGTGGTCGGCAGTTCTGATGGGAGGGGCAAGAGCTGGAGGCAGTGTTTGGGGGAGGGCAGTTACAGCGGAGAAGGGAGCGGGGCCAAGCCCTAGGGTGGTGAAGGATGTTTGGAGGACAAGTAATGATCTCCTGGAAGGCAGGTAGGATCCAGCCCACGCTCTTCTCACTCATATCCTCCTCTTTCTGCCCAGGGCATCTGGATCCCTGATGGGGAGAATGTGAAAATTCCAGTGGCCATCAAAGTGTTGAGGGAAAACACATCCCCCAAAGCCAACAAAGAAATCTTAGACGTAAGCCCCTCCACCCTCTCCTGCTAGGAGGACAGGAAGGACCCCATGGCTGCAGGTCTGGGCTCTGGTCTCTCTTCATTGGGGTTTGGGGAGATATGACTCCCGCAAACCTAGACTATTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTTATCTCGGCTCACTGCAACCTCCACCTCCTGGACTCAAGCGATTTTCATGCCTCAGGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCGAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGTTGGTGTCAAACTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAATCTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTACTTTGAGCCTTCACAGGCTGTGGGCCATGGCTGTGGTTTGTGATGGTTGGGAGGCTGTGTGGTGTTTGGGGGTGTGTGGTCTCCCATACCCTCTCAGCGTACCCTTGTCCCCAGGAAGCATACGTGATGGCTGGTGTGGGCTCCCCATATGTCTCCCGCCTTCTGGGCATCTGCCTGACATCCACGGTGCAGCTGGTGACACAGCTTATGCCCTATGGCTGCCTCTTAGACCATGTCCGGGAAAACCGCGGACGCCTGGGCTCCCAGGACCTGCTGAACTGGTGTATGCAGATTGCCAAGGTATGCACCTGGGCTCTTTGCAGGTCTCTCCGGAGCAAACCCCTATGTCCACAAGGGGCTAGGATGGGGACTCTTGCTGGGCATGTGGCCAGGCCCAGGCCCTCCCAGAAGGTCTACATGGGTGCTTCCCATTCCAGGGGATGAGCTACCTGGAGGATGTGCGGCTCGTACACAGGGACTTGGCCGCTCGGAACGTGCTGGTCAAGAGTCCCAACCATGTCAAAATTACAGACTTCGGGCTGGCTCGGCTGCTGGACATTGACGAGACAGAGTACCATGCAGATGGGGGCAAGGTTAGGTGAAGGACCAAGGAGCAGAGGAGGCTGGGTGGAGTGGTGTCTAGCCCATGGGAGAACTCTGAGTGGCCACCTCCCCACAACACACAGTTGGAGGACTTCCTCTTCTGCCCTCCCAGGTGCCCATCAAGTGGATGGCGCTGGAGTCCATTCTCCGCCGGCGGTTCACCCACCAGAGTGATGTGTGGAGTTATGGTGTGTGATGGGGGGTGTTGGGAGGGGTGGGTGAGGAGCCATGGCTGGAGGGAGGATGAGAGCTGGGATGGGGAGAATTACGGGGCCACCTCAGCATGTGAAGGGAGGGAAGGGGCTGCCTGTGCCCCACCTTGCAGGGTCTGTGCACTTCCCAGGATTAGGGAAAGACCGGGTAGGGTCTGTCTCCTGGCATCACATCTCCCCCTGCTACCTGCCATGATGCTAG
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Task1_train_24224
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Given this context: Chromosome 17, gene ERBB2 (erb-b2 receptor tyrosine kinase 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Lung adenocarcinoma
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CTGATTGCCTACAAGGAGTTTGGACTTTATTGTGGAGGCAGCGGGGAGCCAAGGCAGGTTTTAGAGTAGGAGAGGGTCCAAGCCTGTGGGTCACCCTTCCGACTTCCCTTTCCGAATGCCAAACACCTTCATGTCCCCCGTGGGCCCCCTTTGTCCCTCCCACCCCAAACTAGCCCTCAATCCCTGACCCTGGCTTCCGCCCCCAGCCCTCTGACGTCCATCATCTCTGCGGTGGTTGGCATTCTGCTGGTCGTGGTCTTGGGGGTGGTCTTTGGGATCCTCATCAAGCGACGGCAGCAGAAGATCCGGAAGTACACGATGCGGAGACTGCTGCAGGAAACGGAGGTGAGGCGGGGTGAAGTCCTCCCAGCCCGCGTGGGGTCTGCACCGGCCCCCGGCACTGACCCACCACCCCCTCACCCCAGCTGGTGGAGCCGCTGACACCTAGCGGAGCGATGCCCAACCAGGCGCAGATGCGGATCCTGAAAGAGACGGAGCTGAGGAAGGTGAAGGTGCTTGGATCTGGCGCTTTTGGCACAGTCTACAAGGTCAGGGCCAGGTCCTGGGGTGGGCGGCCCCAGAGGATGGGGGCGGTGCCTGGAGGGGTGTGGTCGGCAGTTCTGATGGGAGGGGCAAGAGCTGGAGGCAGTGTTTGGGGGAGGGCAGTTACAGCGGAGAAGGGAGCGGGGCCAAGCCCTAGGGTGGTGAAGGATGTTTGGAGGACAAGTAATGATCTCCTGGAAGGCAGGTAGGATCCAGCCCACGCTCTTCTCACTCATATCCTCCTCTTTCTGCCCAGGGCATCTGGATCCCTGATGGGGAGAATGTGAAAATTCCAGTGGCCATCAAAGTGTTGAGGGAAAACACATCCCCCAAAGCCAACAAAGAAATCTTAGACGTAAGCCCCTCCACCCTCTCCTGCTAGGAGGACAGGAAGGACCCCATGGCTGCAGGTCTGGGCTCTGGTCTCTCTTCATTGGGGTTTGGGGAGATATGACTCCCGCAAACCTAGACTATTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTTATCTCGGCTCACTGCAACCTCCACCTCCTGGACTCAAGCGATTTTCATGCCTCAGGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCGAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGTTGGTGTCAAACTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAATCTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTACTTTGAGCCTTCACAGGCTGTGGGCCATGGCTGTGGTTTGTGATGGTTGGGAGGCTGTGTGGTGTTTGGGGGTGTGTGGTCTCCCATACCCTCTCAGCGTACCCTTGTCCCCAGGAAGCATACGTGATGGCTGGTGTGGGCTCCCCATATGTCTCCCGCCTTCTGGGCATCTGCCTGACATCCACGGTGCAGCTGGTGACACAGCTTATGCCCTATGGCTGCCTCTTAGACCATGTCCGGGAAAACCGCGGACGCCTGGGCTCCCAGGACCTGCTGAACTGGTGTATGCAGATTGCCAAGGTATGCACCTGGGCTCTTTGCAGGTCTCTCCGGAGCAAACCCCTATGTCCACAAGGGGCTAGGATGGGGACTCTTGCTGGGCATGTGGCCAGGCCCAGGCCCTCCCAGAAGGTCTACATGGGTGCTTCCCATTCCAGGGGATGAGCTACCTGGAGGATGTGCGGCTCGTACACAGGGACTTGGCCGCTCGGAACGTGCTGGTCAAGAGTCCCAACCATGTCAAAATTACAGACTTCGGGCTGGCTCGGCTGCTGGACATTGACGAGACAGAGTACCATGCAGATGGGGGCAAGGTTAGGTGAAGGACCAAGGAGCAGAGGAGGCTGGGTGGAGTGGTGTCTAGCCCATGGGAGAACTCTGAGTGGCCACCTCCCCACAACACACAGTTGGAGGACTTCCTCTTCTGCCCTCCCAGGTGCCCATCAAGTGGATGGCGCTGGAGTCCATTCTCCGCCGGCGGTTCACCCACCAGAGTGATGTGTGGAGTTATGGTGTGTGATGGGGGGTGTTGGGAGGGGTGGGTGAGGAGCCATGGCTGGAGGGAGGATGAGAGCTGGGATGGGGAGAATTACGGGGCCACCTCAGCATGTGAAGGGAGGGAAGGGGCTGCCTGTGCCCCACCTTGCAGGGTCTGTGCACTTCCCAGGATTAGGGAAAGACCGGGTAGGGTCTGTCTCCTGGCATCACATCTCCCCCTGCTACCTGCCATGATGCTAGACTCCTGAGCAGAACCTCTGGCTCAGTACACTAAAGCTCCCTCTGGCCCTCCCACTCCTGACCCTGTCTCTGCCTTAGGTGTGACTGTGTGGGAGCTGATGACTTTTGGGGCCAAACCTTACGATGGGATCCCAGCCCGGGAGATCCCTGACCTGCTGGAAAAGGGGGAGCGGCTGCCCCAGCCCCCCATCTGCACCATTGATGTCTACATGATCATGGTCAAATGTGCGTGGCTGAGCTGTGCTGGCTGCCTGGAGGAGGGTGGGAGGTCCTGGGTGGAGGAGCCCACAAGGGGCATGAAAGGGGACCAGGATGTATGTAGACCCAGGAGCCCTAGTATGTTAGGAGCCTCAAAACCTTCTTGTATCCCTTTTACAGTCAAAGTCCAAAGCCACTCTTGAGGAACACTCTTGTACAAAATTAAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGTACTTTTGGAGGCTGAGGTGGGAGGATCCCTTGAAGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGATCCTATCTCTACAAAAAATAAAAAAATTATCTGGGTGTGGTGGTGTGTGCCAGTAGTCCCAGCTACTCAGGAGAGGCTGAGGCAGGAAGATCACTTGAGCCTAGTTTAAGGTTGCAGTAAGCTATGATTGCACCACTGAAATCCAGCCTGGGTGACAGAGCGAAACCTCATCTCAAAAAAATAAAAAAGCAAACAAAAAGAAAAAAAAAATTAAAAGGGAAACTAGAAGAGATGCCAAAGGTTCTGGCTGAAGACCCCAGAGTCTGGTGCTACTTCTCTACCACCTGAGGGCTTTGGGCTGTCCCTTGGGACTGTCTAGACCAGACTGGAGGGGGAGTGGGAGGGGAGAGGCAGCAAGCACACAGGGCCTGGGACTAGCATGCTGACCTCCCTCCTGCCCCAGGTTGGATGATTGACTCTGAATGTCGGCCAAGATTCCGGGAGTTGGTGTCTGAATTCTCCCGCATGGCCAGGGACCCCCAGCGCTTTGTGGTCATCCAGGTACTGGGCCTCTGTGCCCCATCCCTGCCTGTGGCTAAGAGCACCCTCCTGCAGAGGGTGGGAAGGAGAGATGAGTCCAGTATGCCAGGCCCCTCACGGAAGGCTGCATGCTGGGCTGGGGAGGGGCCACCATCCTGCCTCTCCTTCCTCCACAGAATGAGGACTTGGGCCCAGCCAGTCCCTTGGACAGCACCTTCTACCGCTCACTGCTGGAGGACGATGACATGGGGGACCTGGTGGATGCTGAGGAGTATCTGGTACCCCAGCAGGGCTTCTTCTGTCCAGACCCTGCCCCGGGCGCTGGGGGCATGGTCCACCACAGGCACCGCAGCTCATCTACCAGGGTCAGTGCCCTCGGTCACACTGTGTGGCTGTCTGCTTACCTCCCCCAACCCCGGTGGACTAGGGTCCCTTTCTCTGATGTTCCCTCAACTGTCACCTCTCAAGGAAACCCCATTATCCCTACAAAAAATTCTTACTGCCTTCCAACCCCTGTGACCCCATTCTCTCCACGGTGACTGTGTCATACCCCAAAGGTGACCTCTGTTT
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CTGATTGCCTACAAGGAGTTTGGACTTTATTGTGGAGGCAGCGGGGAGCCAAGGCAGGTTTTAGAGTAGGAGAGGGTCCAAGCCTGTGGGTCACCCTTCCGACTTCCCTTTCCGAATGCCAAACACCTTCATGTCCCCCGTGGGCCCCCTTTGTCCCTCCCACCCCAAACTAGCCCTCAATCCCTGACCCTGGCTTCCGCCCCCAGCCCTCTGACGTCCATCATCTCTGCGGTGGTTGGCATTCTGCTGGTCGTGGTCTTGGGGGTGGTCTTTGGGATCCTCATCAAGCGACGGCAGCAGAAGATCCGGAAGTACACGATGCGGAGACTGCTGCAGGAAACGGAGGTGAGGCGGGGTGAAGTCCTCCCAGCCCGCGTGGGGTCTGCACCGGCCCCCGGCACTGACCCACCACCCCCTCACCCCAGCTGGTGGAGCCGCTGACACCTAGCGGAGCGATGCCCAACCAGGCGCAGATGCGGATCCTGAAAGAGACGGAGCTGAGGAAGGTGAAGGTGCTTGGATCTGGCGCTTTTGGCACAGTCTACAAGGTCAGGGCCAGGTCCTGGGGTGGGCGGCCCCAGAGGATGGGGGCGGTGCCTGGAGGGGTGTGGTCGGCAGTTCTGATGGGAGGGGCAAGAGCTGGAGGCAGTGTTTGGGGGAGGGCAGTTACAGCGGAGAAGGGAGCGGGGCCAAGCCCTAGGGTGGTGAAGGATGTTTGGAGGACAAGTAATGATCTCCTGGAAGGCAGGTAGGATCCAGCCCACGCTCTTCTCACTCATATCCTCCTCTTTCTGCCCAGGGCATCTGGATCCCTGATGGGGAGAATGTGAAAATTCCAGTGGCCATCAAAGTGTTGAGGGAAAACACATCCCCCAAAGCCAACAAAGAAATCTTAGACGTAAGCCCCTCCACCCTCTCCTGCTAGGAGGACAGGAAGGACCCCATGGCTGCAGGTCTGGGCTCTGGTCTCTCTTCATTGGGGTTTGGGGAGATATGACTCCCGCAAACCTAGACTATTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTTATCTCGGCTCACTGCAACCTCCACCTCCTGGACTCAAGCGATTTTCATGCCTCAGGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCGAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGTTGGTGTCAAACTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAATCTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTACTTTGAGCCTTCACAGGCTGTGGGCCATGGCTGTGGTTTGTGATGGTTGGGAGGCTGTGTGGTGTTTGGGGGTGTGTGGTCTCCCATACCCTCTCAGCGTACCCTTGTCCCCAGGAAGCATACGTGATGGCTGGTGTGGGCTCCCCATATGTCTCCCGCCTTCTGGGCATCTGCCTGACATCCACGGTGCAGCTGGTGACACAGCTTATGCCCTATGGCTGCCTCTTAGACCATGTCCGGGAAAACCGCGGACGCCTGGGCTCCCAGGACCTGCTGAACTGGTGTATGCAGATTGCCAAGGTATGCACCTGGGCTCTTTGCAGGTCTCTCCGGAGCAAACCCCTATGTCCACAAGGGGCTAGGATGGGGACTCTTGCTGGGCATGTGGCCAGGCCCAGGCCCTCCCAGAAGGTCTACATGGGTGCTTCCCATTCCAGGGGATGAGCTACCTGGAGGATGTGCGGCTCGTACACAGGGACTTGGCCGCTCGGAACGTGCTGGTCAAGAGTCCCAACCATGTCAAAATTACAGACTTCGGGCTGGCTCGGCGGCTGGACATTGACGAGACAGAGTACCATGCAGATGGGGGCAAGGTTAGGTGAAGGACCAAGGAGCAGAGGAGGCTGGGTGGAGTGGTGTCTAGCCCATGGGAGAACTCTGAGTGGCCACCTCCCCACAACACACAGTTGGAGGACTTCCTCTTCTGCCCTCCCAGGTGCCCATCAAGTGGATGGCGCTGGAGTCCATTCTCCGCCGGCGGTTCACCCACCAGAGTGATGTGTGGAGTTATGGTGTGTGATGGGGGGTGTTGGGAGGGGTGGGTGAGGAGCCATGGCTGGAGGGAGGATGAGAGCTGGGATGGGGAGAATTACGGGGCCACCTCAGCATGTGAAGGGAGGGAAGGGGCTGCCTGTGCCCCACCTTGCAGGGTCTGTGCACTTCCCAGGATTAGGGAAAGACCGGGTAGGGTCTGTCTCCTGGCATCACATCTCCCCCTGCTACCTGCCATGATGCTAGACTCCTGAGCAGAACCTCTGGCTCAGTACACTAAAGCTCCCTCTGGCCCTCCCACTCCTGACCCTGTCTCTGCCTTAGGTGTGACTGTGTGGGAGCTGATGACTTTTGGGGCCAAACCTTACGATGGGATCCCAGCCCGGGAGATCCCTGACCTGCTGGAAAAGGGGGAGCGGCTGCCCCAGCCCCCCATCTGCACCATTGATGTCTACATGATCATGGTCAAATGTGCGTGGCTGAGCTGTGCTGGCTGCCTGGAGGAGGGTGGGAGGTCCTGGGTGGAGGAGCCCACAAGGGGCATGAAAGGGGACCAGGATGTATGTAGACCCAGGAGCCCTAGTATGTTAGGAGCCTCAAAACCTTCTTGTATCCCTTTTACAGTCAAAGTCCAAAGCCACTCTTGAGGAACACTCTTGTACAAAATTAAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGTACTTTTGGAGGCTGAGGTGGGAGGATCCCTTGAAGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGATCCTATCTCTACAAAAAATAAAAAAATTATCTGGGTGTGGTGGTGTGTGCCAGTAGTCCCAGCTACTCAGGAGAGGCTGAGGCAGGAAGATCACTTGAGCCTAGTTTAAGGTTGCAGTAAGCTATGATTGCACCACTGAAATCCAGCCTGGGTGACAGAGCGAAACCTCATCTCAAAAAAATAAAAAAGCAAACAAAAAGAAAAAAAAAATTAAAAGGGAAACTAGAAGAGATGCCAAAGGTTCTGGCTGAAGACCCCAGAGTCTGGTGCTACTTCTCTACCACCTGAGGGCTTTGGGCTGTCCCTTGGGACTGTCTAGACCAGACTGGAGGGGGAGTGGGAGGGGAGAGGCAGCAAGCACACAGGGCCTGGGACTAGCATGCTGACCTCCCTCCTGCCCCAGGTTGGATGATTGACTCTGAATGTCGGCCAAGATTCCGGGAGTTGGTGTCTGAATTCTCCCGCATGGCCAGGGACCCCCAGCGCTTTGTGGTCATCCAGGTACTGGGCCTCTGTGCCCCATCCCTGCCTGTGGCTAAGAGCACCCTCCTGCAGAGGGTGGGAAGGAGAGATGAGTCCAGTATGCCAGGCCCCTCACGGAAGGCTGCATGCTGGGCTGGGGAGGGGCCACCATCCTGCCTCTCCTTCCTCCACAGAATGAGGACTTGGGCCCAGCCAGTCCCTTGGACAGCACCTTCTACCGCTCACTGCTGGAGGACGATGACATGGGGGACCTGGTGGATGCTGAGGAGTATCTGGTACCCCAGCAGGGCTTCTTCTGTCCAGACCCTGCCCCGGGCGCTGGGGGCATGGTCCACCACAGGCACCGCAGCTCATCTACCAGGGTCAGTGCCCTCGGTCACACTGTGTGGCTGTCTGCTTACCTCCCCCAACCCCGGTGGACTAGGGTCCCTTTCTCTGATGTTCCCTCAACTGTCACCTCTCAAGGAAACCCCATTATCCCTACAAAAAATTCTTACTGCCTTCCAACCCCTGTGACCCCATTCTCTCCACGGTGACTGTGTCATACCCCAAAGGTGACCTCTGTTT
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Task1_train_24225
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This mutation occurs in ERBB2 (erb-b2 receptor tyrosine kinase 2) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Glioma susceptibility 1
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TCCTGGGGTGGGCGGCCCCAGAGGATGGGGGCGGTGCCTGGAGGGGTGTGGTCGGCAGTTCTGATGGGAGGGGCAAGAGCTGGAGGCAGTGTTTGGGGGAGGGCAGTTACAGCGGAGAAGGGAGCGGGGCCAAGCCCTAGGGTGGTGAAGGATGTTTGGAGGACAAGTAATGATCTCCTGGAAGGCAGGTAGGATCCAGCCCACGCTCTTCTCACTCATATCCTCCTCTTTCTGCCCAGGGCATCTGGATCCCTGATGGGGAGAATGTGAAAATTCCAGTGGCCATCAAAGTGTTGAGGGAAAACACATCCCCCAAAGCCAACAAAGAAATCTTAGACGTAAGCCCCTCCACCCTCTCCTGCTAGGAGGACAGGAAGGACCCCATGGCTGCAGGTCTGGGCTCTGGTCTCTCTTCATTGGGGTTTGGGGAGATATGACTCCCGCAAACCTAGACTATTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTTATCTCGGCTCACTGCAACCTCCACCTCCTGGACTCAAGCGATTTTCATGCCTCAGGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCGAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGTTGGTGTCAAACTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAATCTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTACTTTGAGCCTTCACAGGCTGTGGGCCATGGCTGTGGTTTGTGATGGTTGGGAGGCTGTGTGGTGTTTGGGGGTGTGTGGTCTCCCATACCCTCTCAGCGTACCCTTGTCCCCAGGAAGCATACGTGATGGCTGGTGTGGGCTCCCCATATGTCTCCCGCCTTCTGGGCATCTGCCTGACATCCACGGTGCAGCTGGTGACACAGCTTATGCCCTATGGCTGCCTCTTAGACCATGTCCGGGAAAACCGCGGACGCCTGGGCTCCCAGGACCTGCTGAACTGGTGTATGCAGATTGCCAAGGTATGCACCTGGGCTCTTTGCAGGTCTCTCCGGAGCAAACCCCTATGTCCACAAGGGGCTAGGATGGGGACTCTTGCTGGGCATGTGGCCAGGCCCAGGCCCTCCCAGAAGGTCTACATGGGTGCTTCCCATTCCAGGGGATGAGCTACCTGGAGGATGTGCGGCTCGTACACAGGGACTTGGCCGCTCGGAACGTGCTGGTCAAGAGTCCCAACCATGTCAAAATTACAGACTTCGGGCTGGCTCGGCTGCTGGACATTGACGAGACAGAGTACCATGCAGATGGGGGCAAGGTTAGGTGAAGGACCAAGGAGCAGAGGAGGCTGGGTGGAGTGGTGTCTAGCCCATGGGAGAACTCTGAGTGGCCACCTCCCCACAACACACAGTTGGAGGACTTCCTCTTCTGCCCTCCCAGGTGCCCATCAAGTGGATGGCGCTGGAGTCCATTCTCCGCCGGCGGTTCACCCACCAGAGTGATGTGTGGAGTTATGGTGTGTGATGGGGGGTGTTGGGAGGGGTGGGTGAGGAGCCATGGCTGGAGGGAGGATGAGAGCTGGGATGGGGAGAATTACGGGGCCACCTCAGCATGTGAAGGGAGGGAAGGGGCTGCCTGTGCCCCACCTTGCAGGGTCTGTGCACTTCCCAGGATTAGGGAAAGACCGGGTAGGGTCTGTCTCCTGGCATCACATCTCCCCCTGCTACCTGCCATGATGCTAGACTCCTGAGCAGAACCTCTGGCTCAGTACACTAAAGCTCCCTCTGGCCCTCCCACTCCTGACCCTGTCTCTGCCTTAGGTGTGACTGTGTGGGAGCTGATGACTTTTGGGGCCAAACCTTACGATGGGATCCCAGCCCGGGAGATCCCTGACCTGCTGGAAAAGGGGGAGCGGCTGCCCCAGCCCCCCATCTGCACCATTGATGTCTACATGATCATGGTCAAATGTGCGTGGCTGAGCTGTGCTGGCTGCCTGGAGGAGGGTGGGAGGTCCTGGGTGGAGGAGCCCACAAGGGGCATGAAAGGGGACCAGGATGTATGTAGACCCAGGAGCCCTAGTATGTTAGGAGCCTCAAAACCTTCTTGTATCCCTTTTACAGTCAAAGTCCAAAGCCACTCTTGAGGAACACTCTTGTACAAAATTAAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGTACTTTTGGAGGCTGAGGTGGGAGGATCCCTTGAAGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGATCCTATCTCTACAAAAAATAAAAAAATTATCTGGGTGTGGTGGTGTGTGCCAGTAGTCCCAGCTACTCAGGAGAGGCTGAGGCAGGAAGATCACTTGAGCCTAGTTTAAGGTTGCAGTAAGCTATGATTGCACCACTGAAATCCAGCCTGGGTGACAGAGCGAAACCTCATCTCAAAAAAATAAAAAAGCAAACAAAAAGAAAAAAAAAATTAAAAGGGAAACTAGAAGAGATGCCAAAGGTTCTGGCTGAAGACCCCAGAGTCTGGTGCTACTTCTCTACCACCTGAGGGCTTTGGGCTGTCCCTTGGGACTGTCTAGACCAGACTGGAGGGGGAGTGGGAGGGGAGAGGCAGCAAGCACACAGGGCCTGGGACTAGCATGCTGACCTCCCTCCTGCCCCAGGTTGGATGATTGACTCTGAATGTCGGCCAAGATTCCGGGAGTTGGTGTCTGAATTCTCCCGCATGGCCAGGGACCCCCAGCGCTTTGTGGTCATCCAGGTACTGGGCCTCTGTGCCCCATCCCTGCCTGTGGCTAAGAGCACCCTCCTGCAGAGGGTGGGAAGGAGAGATGAGTCCAGTATGCCAGGCCCCTCACGGAAGGCTGCATGCTGGGCTGGGGAGGGGCCACCATCCTGCCTCTCCTTCCTCCACAGAATGAGGACTTGGGCCCAGCCAGTCCCTTGGACAGCACCTTCTACCGCTCACTGCTGGAGGACGATGACATGGGGGACCTGGTGGATGCTGAGGAGTATCTGGTACCCCAGCAGGGCTTCTTCTGTCCAGACCCTGCCCCGGGCGCTGGGGGCATGGTCCACCACAGGCACCGCAGCTCATCTACCAGGGTCAGTGCCCTCGGTCACACTGTGTGGCTGTCTGCTTACCTCCCCCAACCCCGGTGGACTAGGGTCCCTTTCTCTGATGTTCCCTCAACTGTCACCTCTCAAGGAAACCCCATTATCCCTACAAAAAATTCTTACTGCCTTCCAACCCCTGTGACCCCATTCTCTCCACGGTGACTGTGTCATACCCCAAAGGTGACCTCTGTTTTTCTCCTGTGACCCTGTCACCTTCCATGGAGTCCCCATCCCAGATCCGTGAGTGACCCCCATCATGACTTTCTTTCTTGTCCCCAGAGTGGCGGTGGGGACCTGACACTAGGGCTGGAGCCCTCTGAAGAGGAGGCCCCCAGGTCTCCACTGGCACCCTCCGAAGGGGCTGGCTCCGATGTATTTGATGGTGACCTGGGAATGGGGGCAGCCAAGGGGCTGCAAAGCCTCCCCACACATGACCCCAGCCCTCTACAGCGGTACAGTGAGGACCCCACAGTACCCCTGCCCTCTGAGACTGATGGCTACGTTGCCCCCCTGACCTGCAGCCCCCAGCCTGGTATGGAGTCCAGTCTAAGCAGAGAGACTGATGGGCAGGGGAGGTGGGACCTTCAGCCCAGGGTCCACTGTGGGGGCAGAGGGAGTGGCAGAGACACCGGGGTTCCTTCCCCTAATGGGTCACCTTCTCTTGACCTTTCAGAATATGTGAACCAGCCAGATGTTCGGCCCCAGCCCCCTTCGCCCCGAGAGGGCCCTCTGCCTGCTGCCCGACCTGCTGGT
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TCCTGGGGTGGGCGGCCCCAGAGGATGGGGGCGGTGCCTGGAGGGGTGTGGTCGGCAGTTCTGATGGGAGGGGCAAGAGCTGGAGGCAGTGTTTGGGGGAGGGCAGTTACAGCGGAGAAGGGAGCGGGGCCAAGCCCTAGGGTGGTGAAGGATGTTTGGAGGACAAGTAATGATCTCCTGGAAGGCAGGTAGGATCCAGCCCACGCTCTTCTCACTCATATCCTCCTCTTTCTGCCCAGGGCATCTGGATCCCTGATGGGGAGAATGTGAAAATTCCAGTGGCCATCAAAGTGTTGAGGGAAAACACATCCCCCAAAGCCAACAAAGAAATCTTAGACGTAAGCCCCTCCACCCTCTCCTGCTAGGAGGACAGGAAGGACCCCATGGCTGCAGGTCTGGGCTCTGGTCTCTCTTCATTGGGGTTTGGGGAGATATGACTCCCGCAAACCTAGACTATTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTTATCTCGGCTCACTGCAACCTCCACCTCCTGGACTCAAGCGATTTTCATGCCTCAGGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCGAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGTTGGTGTCAAACTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAATCTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTACTTTGAGCCTTCACAGGCTGTGGGCCATGGCTGTGGTTTGTGATGGTTGGGAGGCTGTGTGGTGTTTGGGGGTGTGTGGTCTCCCATACCCTCTCAGCGTACCCTTGTCCCCAGGAAGCATACGTGATGGCTGGTGTGGGCTCCCCATATGTCTCCCGCCTTCTGGGCATCTGCCTGACATCCACGGTGCAGCTGGTGACACAGCTTATGCCCTATGGCTGCCTCTTAGACCATGTCCGGGAAAACCGCGGACGCCTGGGCTCCCAGGACCTGCTGAACTGGTGTATGCAGATTGCCAAGGTATGCACCTGGGCTCTTTGCAGGTCTCTCCGGAGCAAACCCCTATGTCCACAAGGGGCTAGGATGGGGACTCTTGCTGGGCATGTGGCCAGGCCCAGGCCCTCCCAGAAGGTCTACATGGGTGCTTCCCATTCCAGGGGATGAGCTACCTGGAGGATGTGCGGCTCGTACACAGGGACTTGGCCGCTCGGAACGTGCTGGTCAAGAGTCCCAACCATGTCAAAATTACAGACTTCGGGCTGGCTCGGCTGCTGGACATTGACGAGACAGAGTACCATGCAGATGGGGGCAAGGTTAGGTGAAGGACCAAGGAGCAGAGGAGGCTGGGTGGAGTGGTGTCTAGCCCATGGGAGAACTCTGAGTGGCCACCTCCCCACAACACACAGTTGGAGGACTTCCTCTTCTGCCCTCCCAGGTGCCCATCAAGTGGATGGCGCTGGAGTCCATTCTCCGCCGGCGGTTCACCCACCAGAGTGATGTGTGGAGTTATGGTGTGTGATGGGGGGTGTTGGGAGGGGTGGGTGAGGAGCCATGGCTGGAGGGAGGATGAGAGCTGGGATGGGGAGAATTACGGGGCCACCTCAGCATGTGAAGGGAGGGAAGGGGCTGCCTGTGCCCCACCTTGCAGGGTCTGTGCACTTCCCAGGATTAGGGAAAGACCGGGTAGGGTCTGTCTCCTGGCATCACATCTCCCCCTGCTACCTGCCATGATGCTAGACTCCTGAGCAGAACCTCTGGCTCAGTACACTAAAGCTCCCTCTGGCCCTCCCACTCCTGACCCTGTCTCTGCCTTAGGTGTGACTGTGTGGAAGCTGATGACTTTTGGGGCCAAACCTTACGATGGGATCCCAGCCCGGGAGATCCCTGACCTGCTGGAAAAGGGGGAGCGGCTGCCCCAGCCCCCCATCTGCACCATTGATGTCTACATGATCATGGTCAAATGTGCGTGGCTGAGCTGTGCTGGCTGCCTGGAGGAGGGTGGGAGGTCCTGGGTGGAGGAGCCCACAAGGGGCATGAAAGGGGACCAGGATGTATGTAGACCCAGGAGCCCTAGTATGTTAGGAGCCTCAAAACCTTCTTGTATCCCTTTTACAGTCAAAGTCCAAAGCCACTCTTGAGGAACACTCTTGTACAAAATTAAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGTACTTTTGGAGGCTGAGGTGGGAGGATCCCTTGAAGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGATCCTATCTCTACAAAAAATAAAAAAATTATCTGGGTGTGGTGGTGTGTGCCAGTAGTCCCAGCTACTCAGGAGAGGCTGAGGCAGGAAGATCACTTGAGCCTAGTTTAAGGTTGCAGTAAGCTATGATTGCACCACTGAAATCCAGCCTGGGTGACAGAGCGAAACCTCATCTCAAAAAAATAAAAAAGCAAACAAAAAGAAAAAAAAAATTAAAAGGGAAACTAGAAGAGATGCCAAAGGTTCTGGCTGAAGACCCCAGAGTCTGGTGCTACTTCTCTACCACCTGAGGGCTTTGGGCTGTCCCTTGGGACTGTCTAGACCAGACTGGAGGGGGAGTGGGAGGGGAGAGGCAGCAAGCACACAGGGCCTGGGACTAGCATGCTGACCTCCCTCCTGCCCCAGGTTGGATGATTGACTCTGAATGTCGGCCAAGATTCCGGGAGTTGGTGTCTGAATTCTCCCGCATGGCCAGGGACCCCCAGCGCTTTGTGGTCATCCAGGTACTGGGCCTCTGTGCCCCATCCCTGCCTGTGGCTAAGAGCACCCTCCTGCAGAGGGTGGGAAGGAGAGATGAGTCCAGTATGCCAGGCCCCTCACGGAAGGCTGCATGCTGGGCTGGGGAGGGGCCACCATCCTGCCTCTCCTTCCTCCACAGAATGAGGACTTGGGCCCAGCCAGTCCCTTGGACAGCACCTTCTACCGCTCACTGCTGGAGGACGATGACATGGGGGACCTGGTGGATGCTGAGGAGTATCTGGTACCCCAGCAGGGCTTCTTCTGTCCAGACCCTGCCCCGGGCGCTGGGGGCATGGTCCACCACAGGCACCGCAGCTCATCTACCAGGGTCAGTGCCCTCGGTCACACTGTGTGGCTGTCTGCTTACCTCCCCCAACCCCGGTGGACTAGGGTCCCTTTCTCTGATGTTCCCTCAACTGTCACCTCTCAAGGAAACCCCATTATCCCTACAAAAAATTCTTACTGCCTTCCAACCCCTGTGACCCCATTCTCTCCACGGTGACTGTGTCATACCCCAAAGGTGACCTCTGTTTTTCTCCTGTGACCCTGTCACCTTCCATGGAGTCCCCATCCCAGATCCGTGAGTGACCCCCATCATGACTTTCTTTCTTGTCCCCAGAGTGGCGGTGGGGACCTGACACTAGGGCTGGAGCCCTCTGAAGAGGAGGCCCCCAGGTCTCCACTGGCACCCTCCGAAGGGGCTGGCTCCGATGTATTTGATGGTGACCTGGGAATGGGGGCAGCCAAGGGGCTGCAAAGCCTCCCCACACATGACCCCAGCCCTCTACAGCGGTACAGTGAGGACCCCACAGTACCCCTGCCCTCTGAGACTGATGGCTACGTTGCCCCCCTGACCTGCAGCCCCCAGCCTGGTATGGAGTCCAGTCTAAGCAGAGAGACTGATGGGCAGGGGAGGTGGGACCTTCAGCCCAGGGTCCACTGTGGGGGCAGAGGGAGTGGCAGAGACACCGGGGTTCCTTCCCCTAATGGGTCACCTTCTCTTGACCTTTCAGAATATGTGAACCAGCCAGATGTTCGGCCCCAGCCCCCTTCGCCCCGAGAGGGCCCTCTGCCTGCTGCCCGACCTGCTGGT
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Task1_train_24226
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The gene IKZF3 (IKAROS family zinc finger 3) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Immunodeficiency 84
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CCTGGGAGGTGGAGGTTGCAGTGGGCTGAGATTGCACCACTGCATCCCAGCCTGGGCGGCAGAGTGAGACTCCATCTCAAACAAACAAACAAAATTAGCCGGGCGTCGTGGTAGGCATCTATAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATGGCGCCGCTGTACTCCAGCCTGGGTGACAGAGTGAGACACCATCTCAAACAAACAAACAAACAAACAAAATTAGCTGGGCGTTGTGGTAGGCATCTATAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCAACAGCCTAGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAGAGAAATAAAAATGAATTGTAAAAATGACTTCGTCTAAATGTCTAAGATGAAGGAAAGGTTTCACCCATACAATTCATGCAAACTTTATTCTGCCAACTCCCCAAATGCTTTATTGCTTGAAATATGTAAGTAATAACTTCAACTATCTGTGCAAGGCTGGTCTTTCTGATTGTTGATAGAATATACTCAATGAATTTGTCAGTTTTAGGGGCTAAAATTTTTATTTTCTAACTCTTGCTCTGTTTAAAACAGAGGCTTTGGGATTTAAAGCACTAAAAGATCCTTATGGAATCCTAAATTAAAACAAATGCAGGTTTGCTAGGGCTAAAAATGTTACGTTTCTGCATAAATTGGGTTCTCTGGAATCTGTCTTTAAAAAGCCTACTATTGTTTCTTACTTGAAAAAGGCAACAGTAGAGAACTATTCTAATTTTTTTCGAACCAAACTCATCCTTAATTCACTACTTTGAAAAATGAGCTGTAAAAGAGAGAAACCCTTCAATTGCCAATTATGATCTCTCATGGTGGGTTTTGTTGGGGCTGACTTGTTTAATCCTAGTGGCTGAATTATAACAAGTTTTGAGTTTGGGGCTAGGTTTTAATCAAAGCAGTAGATGTGAACTGACATAAAAACAAGCCTTTTTTTCCAATTAAAATTTTGCCAGATAACATCAAGAACATGAGGTCCCAAATTTGAAAATAAACTCAGTCTTATTTTTCTAGGACGGAAATTCTAAATCTTGAAAAAAAAGTATTATCTTGGTCAAAATAAGGAGTAAAAACATCACGACAGCACATAACTTTTACAAATCTTTACCGTTGTTCAATCTTTTAGAGATTTAAAATAAGTAGGCTGGCTGGGCATGGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAGGTCAAAGTGGGAGGAATGCCTGAGCTCAGAAGTTTGAGACCAGCCTGAGCAACATAGTGAGACCTCATGTTTATTTAAAAAAAAAAAAAAAAGTGGGCCAATCAAGAGGAAAGTTGGATTTAATAAATTTATCCCAAATGGCCAAAAAGTAGCCCCCAAACAATGATTTATATCCAGATCACAGTTTTTCATAATTTACAAACTGTACATCATTTGCTTGTCTCGTCTTTTGAATGGAAAGAGTGTGTGTGTTGGGAAAATAATCTTCTAATAAAGTTTACCAGAAGAAAATACTGATGGCTATAATTTTCTCACAAAAATTAAAAGGACATTTTTTATAGGGTGGGCTCTTCCTATCTGACTGTGTTGTTCTCCATGGGTGCAAGGATGGTGAGGAGATGATCATCTCCACTGAGGCAGACGGAGAGCAATTAGTGCCTTAATGGTCGTGTAATTAGCCCTAGAGGTCTCTGCTGTTGTAACCCTTCAGAACAAGAATGACAGATTGAAACCTTCCTACTTAACTCTTTCTAGTTTCCACACTGGGCTCTGAGGAATGCACTTCCTAGACAAGGAATGCTCATTTCTCTCACTTACCAGAATGTGTCCTAAGATGCCCCGTGAGCGCATCTCTTCTTTGGCATGCATAGTTGCAGAGGTGACACTTAAAAGGTTTTTCCCCTGTGTGCAGTTTAATGTGGCGGAGGAGGTTACCTTTCTGAGTAAAAGATGCCCCACACTGATTACACTGGAATGGGCGTTCACCTTTAAAAAGGACAAAAAAGGAGATTTCTGGTCACAGGCAAGTGGAGAAACATATGCACAGATTAGATGCCTAGGGGAAAAGCTCATCTTTTAGACAATTACTGTTCACATTGGGATCAGTTGGGAGCTGCATTTCAAGGCAAGCCTAAGACTTACTTATGAAATCTCCTCTGTAGAAGAGAAAAAGCACCCACTAGCAAGGCTATTTTAGGTATCATATTGAATCAGAGCAAAGAAACAAGAGCAGCTCTAGAAGTGCTTTCTAGATCTAAGTTTTTATATTACTATATTACTTGGTACTCCCTTTTTTTTTTTTTTTTTTTTTTAGACAGGGTCTTCTTGCTCTGTTGCTCAGGCTGGAGTGCAATGGTCCCATCATGGCTCACTGAAACCTTGACCTCCTGGGTTCAAGTGAGCCTGTCACCTCAGCCTTCAGAATAGCTGGGACTACCAGTGTTTGCCATTATGCCTGGCTAATTTTTTAGTATTCCTTTTGAATATAATCTCCTTTGAAAAAAGAGCCAGAAACTAAAGTCCTTACAAGGTGTTGAGGGCTAGAAATTCTCCTTTTTAAAGTCTTCATATGAGATATGGGATGGAATCGACTGGCTCAAGTGCGATGGTTGTGTTTGTATGCATTTCTATAGACTACCTGTTTATTGTCTGAAGATACATTATTTTAAGCTGGAAATAAAAACTATGTCCTTTCATTTACCAAATTTGAACCCAATACAATAAGAAGATCTGCTCTTATTAAAAATGTTATGCAAAAATATACAAAAGATGGCTAAGAAGCAAATCACACAATTCAACTCCTACTTAGAAACTGAAGAAAAAGTATTTGGCTGACCTAGAACACTGTGCTCTCTACAGTCTTTTTTTATTCATAGCATTTGCAATATGTTTGCCAAATGCATGGTGAGGCAGGAATAAAAAGCACTGAGTGAACAGCAATGCAGAGAGAGAGATACATCAGCATTATAGCAAAAATCAATGAAAGTAACCAAAAGTTCCAAATTCCACCACTTCATTTCTCACGTGGCTGCATTAGGAGAGTTTTCAGAAGAATGAAAAAAGCAGACTATTTACCAGTATGGCTTCGCTTATGAACCATTAAGACATTGAAGCTGATGCAGGATAATCCACACACATCGCAGTTCATCTTTCCACTGGTTGGCCTGCTACTATCGAATGAGACAACATGTCTCTCCAACTTAATGTTTTCATATTCATTATATTCTCTTGAATAGCTGTAAGGGATTTCAGGCTCTTCTGCATTTCCCATGGGTTCTGACTTTAAAACATTCTCATCTCTTTCACTGTATTCATCTTTCACTTTCATTGAATCATCTGCAGGGAAGAAAATGCAAGAAATGAACAACGACTATACTTGAAGCTATCAAAGCAGCTCAAACAGCAGAGACCCACAACTGACAATTAAATACCAATCGAAGCTAACAAAACACTGTACATCTACAAAACAAGAAAGCACCATTAGCGTGACCGCACGTTATTTAAATTCAGAACCACAGTCAGAGGAAAACACACATACTTACACACATAAAAATAGACGATAGTGTTTTAGGCTATCCAGAAAATTACAGATAATAGATTTTAGCTAAGTTTGCTCAAAGTGGCCATGAAACAAACATTGAGCAACTCTTCTCCAGTACTAGGGGAGAGGAAGGGTTCTCAGATCTAGTACTGTTTTTGGTGGCTGCAGTTAAAAAGGCAAGGTGATGTACTCTTAGGTTTCAAGGAGAAAATATTGTTTGAATCCTTCAGATGCATCCAGTGTAAGCCATTAAGATTAAGAGTTGACTAGTTAACATAGTTTTTCTAATTTTAAGCCATGCATTGCCTCTTCCCCTTCCACGTATATGAATTGCTAAAACACATCTTATCTCTGTCTCTCTTGGAGCTGATAAAGGCACAACATTGACTGTAGAGGAAGTTGTCAGTACTAATGAAAAAGTGTTGAGAAAGACAAAAGGAAA
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CCTGGGAGGTGGAGGTTGCAGTGGGCTGAGATTGCACCACTGCATCCCAGCCTGGGCGGCAGAGTGAGACTCCATCTCAAACAAACAAACAAAATTAGCCGGGCGTCGTGGTAGGCATCTATAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATGGCGCCGCTGTACTCCAGCCTGGGTGACAGAGTGAGACACCATCTCAAACAAACAAACAAACAAACAAAATTAGCTGGGCGTTGTGGTAGGCATCTATAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCAACAGCCTAGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAGAGAAATAAAAATGAATTGTAAAAATGACTTCGTCTAAATGTCTAAGATGAAGGAAAGGTTTCACCCATACAATTCATGCAAACTTTATTCTGCCAACTCCCCAAATGCTTTATTGCTTGAAATATGTAAGTAATAACTTCAACTATCTGTGCAAGGCTGGTCTTTCTGATTGTTGATAGAATATACTCAATGAATTTGTCAGTTTTAGGGGCTAAAATTTTTATTTTCTAACTCTTGCTCTGTTTAAAACAGAGGCTTTGGGATTTAAAGCACTAAAAGATCCTTATGGAATCCTAAATTAAAACAAATGCAGGTTTGCTAGGGCTAAAAATGTTACGTTTCTGCATAAATTGGGTTCTCTGGAATCTGTCTTTAAAAAGCCTACTATTGTTTCTTACTTGAAAAAGGCAACAGTAGAGAACTATTCTAATTTTTTTCGAACCAAACTCATCCTTAATTCACTACTTTGAAAAATGAGCTGTAAAAGAGAGAAACCCTTCAATTGCCAATTATGATCTCTCATGGTGGGTTTTGTTGGGGCTGACTTGTTTAATCCTAGTGGCTGAATTATAACAAGTTTTGAGTTTGGGGCTAGGTTTTAATCAAAGCAGTAGATGTGAACTGACATAAAAACAAGCCTTTTTTTCCAATTAAAATTTTGCCAGATAACATCAAGAACATGAGGTCCCAAATTTGAAAATAAACTCAGTCTTATTTTTCTAGGACGGAAATTCTAAATCTTGAAAAAAAAGTATTATCTTGGTCAAAATAAGGAGTAAAAACATCACGACAGCACATAACTTTTACAAATCTTTACCGTTGTTCAATCTTTTAGAGATTTAAAATAAGTAGGCTGGCTGGGCATGGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAGGTCAAAGTGGGAGGAATGCCTGAGCTCAGAAGTTTGAGACCAGCCTGAGCAACATAGTGAGACCTCATGTTTATTTAAAAAAAAAAAAAAAAGTGGGCCAATCAAGAGGAAAGTTGGATTTAATAAATTTATCCCAAATGGCCAAAAAGTAGCCCCCAAACAATGATTTATATCCAGATCACAGTTTTTCATAATTTACAAACTGTACATCATTTGCTTGTCTCGTCTTTTGAATGGAAAGAGTGTGTGTGTTGGGAAAATAATCTTCTAATAAAGTTTACCAGAAGAAAATACTGATGGCTATAATTTTCTCACAAAAATTAAAAGGACATTTTTTATAGGGTGGGCTCTTCCTATCTGACTGTGTTGTTCTCCATGGGTGCAAGGATGGTGAGGAGATGATCATCTCCACTGAGGCAGACGGAGAGCAATTAGTGCCTTAATGGTCGTGTAATTAGCCCTAGAGGTCTCTGCTGTTGTAACCCTTCAGAACAAGAATGACAGATTGAAACCTTCCTACTTAACTCTTTCTAGTTTCCACACTGGGCTCTGAGGAATGCACTTCCTAGACAAGGAATGCTCATTTCTCTCACTTACCAGAATGTGTCCTAAGATGCCCCGTGAGCGCATCTCTTCTTTGGCATGCATAGTTGCAGAGGTGACACTTAAAAGGTTTTTCCCCTGTGTGCAGTTTAATGTGGCGGAGGAGGTTACGTTTCTGAGTAAAAGATGCCCCACACTGATTACACTGGAATGGGCGTTCACCTTTAAAAAGGACAAAAAAGGAGATTTCTGGTCACAGGCAAGTGGAGAAACATATGCACAGATTAGATGCCTAGGGGAAAAGCTCATCTTTTAGACAATTACTGTTCACATTGGGATCAGTTGGGAGCTGCATTTCAAGGCAAGCCTAAGACTTACTTATGAAATCTCCTCTGTAGAAGAGAAAAAGCACCCACTAGCAAGGCTATTTTAGGTATCATATTGAATCAGAGCAAAGAAACAAGAGCAGCTCTAGAAGTGCTTTCTAGATCTAAGTTTTTATATTACTATATTACTTGGTACTCCCTTTTTTTTTTTTTTTTTTTTTTAGACAGGGTCTTCTTGCTCTGTTGCTCAGGCTGGAGTGCAATGGTCCCATCATGGCTCACTGAAACCTTGACCTCCTGGGTTCAAGTGAGCCTGTCACCTCAGCCTTCAGAATAGCTGGGACTACCAGTGTTTGCCATTATGCCTGGCTAATTTTTTAGTATTCCTTTTGAATATAATCTCCTTTGAAAAAAGAGCCAGAAACTAAAGTCCTTACAAGGTGTTGAGGGCTAGAAATTCTCCTTTTTAAAGTCTTCATATGAGATATGGGATGGAATCGACTGGCTCAAGTGCGATGGTTGTGTTTGTATGCATTTCTATAGACTACCTGTTTATTGTCTGAAGATACATTATTTTAAGCTGGAAATAAAAACTATGTCCTTTCATTTACCAAATTTGAACCCAATACAATAAGAAGATCTGCTCTTATTAAAAATGTTATGCAAAAATATACAAAAGATGGCTAAGAAGCAAATCACACAATTCAACTCCTACTTAGAAACTGAAGAAAAAGTATTTGGCTGACCTAGAACACTGTGCTCTCTACAGTCTTTTTTTATTCATAGCATTTGCAATATGTTTGCCAAATGCATGGTGAGGCAGGAATAAAAAGCACTGAGTGAACAGCAATGCAGAGAGAGAGATACATCAGCATTATAGCAAAAATCAATGAAAGTAACCAAAAGTTCCAAATTCCACCACTTCATTTCTCACGTGGCTGCATTAGGAGAGTTTTCAGAAGAATGAAAAAAGCAGACTATTTACCAGTATGGCTTCGCTTATGAACCATTAAGACATTGAAGCTGATGCAGGATAATCCACACACATCGCAGTTCATCTTTCCACTGGTTGGCCTGCTACTATCGAATGAGACAACATGTCTCTCCAACTTAATGTTTTCATATTCATTATATTCTCTTGAATAGCTGTAAGGGATTTCAGGCTCTTCTGCATTTCCCATGGGTTCTGACTTTAAAACATTCTCATCTCTTTCACTGTATTCATCTTTCACTTTCATTGAATCATCTGCAGGGAAGAAAATGCAAGAAATGAACAACGACTATACTTGAAGCTATCAAAGCAGCTCAAACAGCAGAGACCCACAACTGACAATTAAATACCAATCGAAGCTAACAAAACACTGTACATCTACAAAACAAGAAAGCACCATTAGCGTGACCGCACGTTATTTAAATTCAGAACCACAGTCAGAGGAAAACACACATACTTACACACATAAAAATAGACGATAGTGTTTTAGGCTATCCAGAAAATTACAGATAATAGATTTTAGCTAAGTTTGCTCAAAGTGGCCATGAAACAAACATTGAGCAACTCTTCTCCAGTACTAGGGGAGAGGAAGGGTTCTCAGATCTAGTACTGTTTTTGGTGGCTGCAGTTAAAAAGGCAAGGTGATGTACTCTTAGGTTTCAAGGAGAAAATATTGTTTGAATCCTTCAGATGCATCCAGTGTAAGCCATTAAGATTAAGAGTTGACTAGTTAACATAGTTTTTCTAATTTTAAGCCATGCATTGCCTCTTCCCCTTCCACGTATATGAATTGCTAAAACACATCTTATCTCTGTCTCTCTTGGAGCTGATAAAGGCACAACATTGACTGTAGAGGAAGTTGTCAGTACTAATGAAAAAGTGTTGAGAAAGACAAAAGGAAA
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Task1_train_24227
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Here is a genetic alteration in THRA (thyroid hormone receptor alpha) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Congenital nongoitrous hypothyroidism 6
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GCTCCCCTCCCCCAAAGCCTCACCCCAGGAAGGACTCTGAGGACGATCTGGCCTGTCGCTGTGTGGCTGTCACTTGCAGCCCCTGTGTCTCCCAGCTTAGGCTTCTGTGGGTCTGGAAGAGTCTGTGCTTAATGTTTGGAGAAAGGCAGGAATGCCAGTTCCCAGTCTCCTAAGACTGCAACCCCTCCCCCATCACCTTCCCCTCCCCCATGTCTATGCGCCACCTTGTGGCTATCTCTAGGACTACACTCAGAGGCTGTGAGTCTGGTGGTAACTGCTGAAGCCGCTAGCTCAACTGGGGCCTAGGTGGGCTGAGTTCCCCTGCACCCAACCCTCTGGGAGGCGTGAGGGAGACCTGACCTTTCAGCCTCATAGGAAGTAGACCGGAGTAATCCCCACGGGGCGTGGAGCATAGGGTTGTCTGTGACTGTGACCCTGGCCAAGGTCACTGTGTCAGTGTGTTGGGAGCTGCATCCGGCTCCAGGAGGAAGGGGCCTGCAACATGCCACACGCAGGGTGGGTGCGGGAGGTTATACAATCCTTGCATGCATGTAGAGGGCTTATGTAACCTGTGTGCACCGAGGTTATGCAACATGTATGTGGAGAGCCTGGCAACATATATGTGCAGTGGCTGAGGGTTGCTAATAATACGCTGCACAGAGGGGCTCAGTCCCGGCTCTGACTCTAGCTCATGGTGTCACCAGGCACAAGCAGGGTCTCAGTTTGCTGCTCTGTTAAATGGAGGCTGTGCAGAGGGTGTAGTGTTTTCTATTGCTGTGGGTTATTTAGCATGTGTGTATGACCTGGAGCTCAAGCAACACGTGCACACTGGAGGGATGAGGGTGGTTTTATGAGGTGCCTGTGCAGAGTGTTGTGTAACACATGGGCATATCCTAGAGGTTGTATAGCACATTTAAGAATGCCCTGAAAATTTCACAGGTATGTTGGCCCTGGTGCATACTCACCATCCATGGGTTTATAGTGAAGGTTGCATGGTTATTCATCTGTGCCGGTGTTATGTTGCATATGTATGTGTGTGTTCTAAAGGCTACATAGCTTTAAGCATATCCTGAGAATTCTTCCAGCGTATTCGTCATGTACTGAAAGATGAGGATGTCCTGCAGATTATGGGTGCTTCAGGTCTTCTGGCGGGTGAATGTGTGTGTGTTGGGGCTCTAGAATATGCTTGTGCCACAGCCAAGCCCCTTATCTCTCTCCCCTGCAACTTCCAGATAACTGGACCCTTTTAAGCATTGTCAGCTGACCCTGGGGGGTGGGAGGTAGAATGAGGACACAAAATGGAAAGAATCAGGCCTTGGGGGATTGCATAAGCCTCTCGGATGAGAAAGGGGCTACTCGAAGACTGCTCTGTGATTCTGCCCACTTTGCCTCCATCCAGTGCCAGGTCACCAGATGGAAAGCGAAAAAGAAAGAACGGCCAATGTTCCCTGAAAACCAGCATGTCAGGTGAGGCTGGCTGTGCGTGCCCCTTCTCCACGTCCCCAACCCCACCAAACCCAGCCAGGGCTCCTCTGGACCTGGATGTGGAACAGTAATTCATGTGTTCCCTGGGGGGAGCCTCCTAGAGGGCTTGGGATGGACTTGTCTGGGGGTGAGAAAGGTAATGTGGGATGTGCCCAGCTTTTGAGGGTGGATTAGGTCAGGACGGCCTCTTCCCTCTTCCCCTAATACCCTCATCTGAGGCCCTACCAGAATCAGGGCCTGAGCTGAAGGACTGAGGGGCTGTATTATCCCCAGTGAGCAGCTGACGTTTATTTTTCCCTCTCCACCATCCTCTGCCTTGTAGATAGATCAAGAAGAAAGCCCTGAATGGGCAGTCAGAAGAACTGAGATTCTTCATACTCTTAGGGCAGAGATGGACAGGTTCACCTCGTGTCTCTCTAGGATTCTACCAGGGAGGCTGGGCTAGGAGAGGGGTCAGAAACAAAAAGTTGAGGGATGGGGAAAAGTGTGAGAGCCTCTCTGCTGGGACTCCAAGCCATGCCTGCCTTCCTCCATCCTTTCCTTCCTCCCAGGGTATATCCCTAGTTACCTGGACAAAGACGAGCAGTGTGTCGTGTGTGGGGACAAGGCAACTGGTTATCACTACCGCTGTATCACTTGTGAGGGCTGCAAGGTATGGAAGCTACCTCCTGCCCCTCCCCTGCCACCTGAGCCCCCATATTACTCCCTATGTCACCTAAAGCCCGCCTGTTAGGTCATCACTTTTTTTTTTTTTCTTTGAGACGGAGTCTCACTCTTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCATGGCTCACTGCAACCTCCGCCTTCAGGTTCAAGTGATTCCCCTACCTCGGCCTCCTGAGTAGCTGGGATTACAGGTATGCACCTCCACACCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCACCCGTCTCAGCCTCCTGAAGTGCTGGGATTACAGGCATACCTGCCTGGTTACTTTCTCTTCTCTTCTCTTATTCATTCATTTACTCATTCATAACTCCTCCTCTGCCACTCACAGGAAAATTGCCTAACTTCTTCGAGCCTTAGTTTCAGTTTCTTCATCTATAAAATGAGGATAATCATTCTCTCTACCTTATAGCATTGTTGGGAGAATTAAATATGTTGGGAGATAGTTCACTTGAAGTGTTTAAAACAGTGCCATTGGGTGCTGTGGCTCATGCCTAAAATCCCAGCCCTTTGGGAGGGAGGCCAAGGCGGGAGCATCCCTTGATCCCAGGAGTTTGAGACCAGCCTAGCTAACACAGTGAGACACTGTCTCTACAAAATTAAAGAAATTAGCTGGGTGTGGTGCCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGACTGCTTGAACCCAGAAGGTCAGGGCTGCATTGAACGGTGGTGGCGCCACTGCACTCCGGCCTGGGTGACAGAGCAAGATTCTGTCTCAAAGTAAAATAATAAAATAAAATAAAAAATAGTGCCATGTGCATAAGAAGCATTTGATAAATGCCAGCCATCACCCATTCATTCAGTGTATTCTTAGGTGTGAGAGTGTAGTACGTACCTCGCCTTCAAGCTGCTCACAGCCTGTCAGAGAGAGAGACACAACTTGAAACAAACATCAGTGTTATTCAAAATGTGGTTCATGGACCACCTGTCCTACTAGTTAAAATGCAGATTCCCAGCCTTCATCTTTTTTTTTTTTTTTTTTTTTTGAGATGGCATCTCGCTCTGTTGCCCAGGTTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTGGCTGGGACTACAGGCACCTGCCACCACGCCCAGCTAACTTTTATATTTTTAATAGAGACAGGGTTTCACCATGTTGACCAGGATGGTCTTGATCTCTTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCACTGCGCCCAGCCTGCCCAGGCTTCATCTTAACCCTGCTCACTCAGAGCCCTTTTGTGGAGCCCAGGAATCTTCCTTTTAACAGAATCCCGGAGTGTTTCCCATGCACCTGAAAGAGCGAGAGCCAGTACTGGGGGGGTAGTGGGAGCTGGGAGCACAGAGGAGAAGAGGACAGCAGGTTCTTCCAGGCAGAGGGGATGACAAGGTCATAGATTTTGGGAGGCCTAATTGTTTTGTTTTGTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCTCGGGTTCAAGCAATTCTCCCTGCTTCAGCATTGGTAGCTGGGATTACAGACACCTGCCACCAAGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCTGCATCCCAAAGTGCTTAAGAGGCCTAATTAGATTTCACTTTGATCATTTCAGCCTGGATAGCCTTTCCAG
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GCTCCCCTCCCCCAAAGCCTCACCCCAGGAAGGACTCTGAGGACGATCTGGCCTGTCGCTGTGTGGCTGTCACTTGCAGCCCCTGTGTCTCCCAGCTTAGGCTTCTGTGGGTCTGGAAGAGTCTGTGCTTAATGTTTGGAGAAAGGCAGGAATGCCAGTTCCCAGTCTCCTAAGACTGCAACCCCTCCCCCATCACCTTCCCCTCCCCCATGTCTATGCGCCACCTTGTGGCTATCTCTAGGACTACACTCAGAGGCTGTGAGTCTGGTGGTAACTGCTGAAGCCGCTAGCTCAACTGGGGCCTAGGTGGGCTGAGTTCCCCTGCACCCAACCCTCTGGGAGGCGTGAGGGAGACCTGACCTTTCAGCCTCATAGGAAGTAGACCGGAGTAATCCCCACGGGGCGTGGAGCATAGGGTTGTCTGTGACTGTGACCCTGGCCAAGGTCACTGTGTCAGTGTGTTGGGAGCTGCATCCGGCTCCAGGAGGAAGGGGCCTGCAACATGCCACACGCAGGGTGGGTGCGGGAGGTTATACAATCCTTGCATGCATGTAGAGGGCTTATGTAACCTGTGTGCACCGAGGTTATGCAACATGTATGTGGAGAGCCTGGCAACATATATGTGCAGTGGCTGAGGGTTGCTAATAATACGCTGCACAGAGGGGCTCAGTCCCGGCTCTGACTCTAGCTCATGGTGTCACCAGGCACAAGCAGGGTCTCAGTTTGCTGCTCTGTTAAATGGAGGCTGTGCAGAGGGTGTAGTGTTTTCTATTGCTGTGGGTTATTTAGCATGTGTGTATGACCTGGAGCTCAAGCAACACGTGCACACTGGAGGGATGAGGGTGGTTTTATGAGGTGCCTGTGCAGAGTGTTGTGTAACACATGGGCATATCCTAGAGGTTGTATAGCACATTTAAGAATGCCCTGAAAATTTCACAGGTATGTTGGCCCTGGTGCATACTCACCATCCATGGGTTTATAGTGAAGGTTGCATGGTTATTCATCTGTGCCGGTGTTATGTTGCATATGTATGTGTGTGTTCTAAAGGCTACATAGCTTTAAGCATATCCTGAGAATTCTTCCAGCGTATTCGTCATGTACTGAAAGATGAGGATGTCCTGCAGATTATGGGTGCTTCAGGTCTTCTGGCGGGTGAATGTGTGTGTGTTGGGGCTCTAGAATATGCTTGTGCCACAGCCAAGCCCCTTATCTCTCTCCCCTGCAACTTCCAGATAACTGGACCCTTTTAAGCATTGTCAGCTGACCCTGGGGGGTGGGAGGTAGAATGAGGACACAAAATGGAAAGAATCAGGCCTTGGGGGATTGCATAAGCCTCTCGGATGAGAAAGGGGCTACTCGAAGACTGCTCTGTGATTCTGCCCACTTTGCCTCCATCCAGTGCCAGGTCACCAGATGGAAAGCGAAAAAGAAAGAACGGCCAATGTTCCCTGAAAACCAGCATGTCAGGTGAGGCTGGCTGTGCGTGCCCCTTCTCCACGTCCCCAACCCCACCAAACCCAGCCAGGGCTCCTCTGGACCTGGATGTGGAACAGTAATTCATGTGTTCCCTGGGGGGAGCCTCCTAGAGGGCTTGGGATGGACTTGTCTGGGGGTGAGAAAGGTAATGTGGGATGTGCCCAGCTTTTGAGGGTGGATTAGGTCAGGACGGCCTCTTCCCTCTTCCCCTAATACCCTCATCTGAGGCCCTACCAGAATCAGGGCCTGAGCTGAAGGACTGAGGGGCTGTATTATCCCCAGTGAGCAGCTGACGTTTATTTTTCCCTCTCCACCATCCTCTGCCTTGTAGATAGATCAAGAAGAAAGCCCTGAATGGGCAGTCAGAAGAACTGAGATTCTTCATACTCTTAGGGCAGAGATGGACAGGTTCACCTCGTGTCTCTCTAGGATTCTACCAGGGAGGCTGGGCTAGGAGAGGGGTCAGAAACAAAAAGTTGAGGGATGGGGAAAAGTGTGAGAGCCTCTCTGCTGGGACTCCAAGCCATGCCTGCCTTCCTCCATCCTTTCCTTCCTCCCAGGGTATATCCCTATTTACCTGGACAAAGACGAGCAGTGTGTCGTGTGTGGGGACAAGGCAACTGGTTATCACTACCGCTGTATCACTTGTGAGGGCTGCAAGGTATGGAAGCTACCTCCTGCCCCTCCCCTGCCACCTGAGCCCCCATATTACTCCCTATGTCACCTAAAGCCCGCCTGTTAGGTCATCACTTTTTTTTTTTTTCTTTGAGACGGAGTCTCACTCTTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCATGGCTCACTGCAACCTCCGCCTTCAGGTTCAAGTGATTCCCCTACCTCGGCCTCCTGAGTAGCTGGGATTACAGGTATGCACCTCCACACCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCACCCGTCTCAGCCTCCTGAAGTGCTGGGATTACAGGCATACCTGCCTGGTTACTTTCTCTTCTCTTCTCTTATTCATTCATTTACTCATTCATAACTCCTCCTCTGCCACTCACAGGAAAATTGCCTAACTTCTTCGAGCCTTAGTTTCAGTTTCTTCATCTATAAAATGAGGATAATCATTCTCTCTACCTTATAGCATTGTTGGGAGAATTAAATATGTTGGGAGATAGTTCACTTGAAGTGTTTAAAACAGTGCCATTGGGTGCTGTGGCTCATGCCTAAAATCCCAGCCCTTTGGGAGGGAGGCCAAGGCGGGAGCATCCCTTGATCCCAGGAGTTTGAGACCAGCCTAGCTAACACAGTGAGACACTGTCTCTACAAAATTAAAGAAATTAGCTGGGTGTGGTGCCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGACTGCTTGAACCCAGAAGGTCAGGGCTGCATTGAACGGTGGTGGCGCCACTGCACTCCGGCCTGGGTGACAGAGCAAGATTCTGTCTCAAAGTAAAATAATAAAATAAAATAAAAAATAGTGCCATGTGCATAAGAAGCATTTGATAAATGCCAGCCATCACCCATTCATTCAGTGTATTCTTAGGTGTGAGAGTGTAGTACGTACCTCGCCTTCAAGCTGCTCACAGCCTGTCAGAGAGAGAGACACAACTTGAAACAAACATCAGTGTTATTCAAAATGTGGTTCATGGACCACCTGTCCTACTAGTTAAAATGCAGATTCCCAGCCTTCATCTTTTTTTTTTTTTTTTTTTTTTGAGATGGCATCTCGCTCTGTTGCCCAGGTTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTGGCTGGGACTACAGGCACCTGCCACCACGCCCAGCTAACTTTTATATTTTTAATAGAGACAGGGTTTCACCATGTTGACCAGGATGGTCTTGATCTCTTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCACTGCGCCCAGCCTGCCCAGGCTTCATCTTAACCCTGCTCACTCAGAGCCCTTTTGTGGAGCCCAGGAATCTTCCTTTTAACAGAATCCCGGAGTGTTTCCCATGCACCTGAAAGAGCGAGAGCCAGTACTGGGGGGGTAGTGGGAGCTGGGAGCACAGAGGAGAAGAGGACAGCAGGTTCTTCCAGGCAGAGGGGATGACAAGGTCATAGATTTTGGGAGGCCTAATTGTTTTGTTTTGTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCTCGGGTTCAAGCAATTCTCCCTGCTTCAGCATTGGTAGCTGGGATTACAGACACCTGCCACCAAGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCTGCATCCCAAAGTGCTTAAGAGGCCTAATTAGATTTCACTTTGATCATTTCAGCCTGGATAGCCTTTCCAG
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Task1_train_24228
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A mutation found in THRA (thyroid hormone receptor alpha) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; not provided
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TTAGCTGCCCCATGCCTCAGTTTCCACATCTGTGAAATGGTGATTATTATAATTATTCCTTTTAGGATTATGGTCAGGATGAAATAAGACATGTAAAACATGTAGCCTGATGCCTGATCATATATTAAGTATTCAGTCATTATAGCTGCTACTACTGTTACTACCGTTGTTATTATTAGCTGACTTGGAGCTCTGGTTCTGGTCTATTCTCTGCTCAAGATGAAGGAAAAGCTTTGGGCCTGGGACTCAGGCACGGGCGGCCCCTCTTCCCCAAGCTGCCTTGGAGCTCCCCCTGGTGGGCAGGGAGCCTCAGTGAGAGGCTGAAAGGGGTCTGCGGCCCCAGCTGACCCCCGTCTTTCTCTCTAGCCCGATGACATTGGCCAGTCACCCATTGTCTCCATGCCGGACGGAGACAAGGTGGACCTGGAAGCCTTCAGCGAGTTTACCAAGATCATCACCCCGGCCATCACCCGTGTGGTGGACTTTGCCAAAAAACTGCCCATGTTCTCCGAGGTGAGTGGCAGAAGTGGGGAGAGATGTGATGCTGTGCTGGAGGGAAACCTGCTCCCCCGGTCACCCAGTACAGGCTCATCTGAGGTTCTCTGGACAAGGAGCAATTCCTGTAGGTCAACATACACAGATAACATACACAGACACACACACACACATGCATACACATACACCCAGCACACAGGCACACATGCAGACACATACACGGACACACACACACACCTAGCATACAGATACGTACACAGACACACATACACACACACATACACCCAGCACACAGACACACACACACCTAGTACACAAACACACACACAGATACATAGAAACACACACAGACATATACACCCAGCACACAGACACACACACACACACAGACACACACCCAGCACACAGGCACACACACACACACACCTAGCACACAGCCACACAGATACATAGACACACACACACAGATACAGACACACACACACACACAGACATATACACCTAGCACACAGACACACAGATACATAGACACACACCTAGCACACAGACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGAGACAGGCTGCCCTACTAGCCATGTGACCTGGGGTAAGTTACCTCCATCCCCTGTGCCTCAGTGTTCCCATCTGGAGTGGGCTGGGGATAATGATGGGTGCTAACTCACAGGCATAATTTTTTTTTCTTTTTTGAGACAGATTTTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACGCGATCTGGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCATAGTGCTGGCATTATAGTCGTGAGCCACTGCGCCGGGCCTCACAGGCATAACTGTGAGGCTTAAATGGAATAGGGCATGCACATGGCCCAATACAAGGTCAGCCGTTCAGAGTCCATGGGGGCCTTGCGGGCCTCACGGCTCCCGTAGGACACTCTAGGGGAGACTCAAGGACGCGGGGAGGGGTATGCTGAGTGCTCCTGTGGCCCTGCCGCTCCACAGCTGCCTTGCGAAGACCAGATCATCCTCCTGAAGGGGTGCTGCATGGAGATCATGTCCCTGCGGGCGGCTGTCCGCTACGACCCTGAGAGCGACACCCTGACGCTGAGTGGGGAGATGGCTGTCAAGCGGGAGCAGCTCAAGAATGGCGGCCTGGGCGTAGTCTCCGACGCCATCTTTGAACTGGGCAAGTCACTCTCTGCCTTTAACCTGGATGACACGGAAGTGGCTCTGCTGCAGGCTGTGCTGCTAATGTCAACAGGTACCTGCTGATTAGTCGGGAGGGCTCAGAAGCTTCCAGGGGTCCCAGAGATTGGCTGGACCCTGGGCCTGTTGCTCAACTCCCTCCTGAATCTTCTTCTGGGCTACCTCTCTGTCACCTGGGCCATCCCCTATCCCCTGTTCCTTGCTCTGTCACACACTTCTCACTCGTTCCCCAGGCCCATCCCTTGCCTCCCCATCCCTGCTCTGTGCCTTTTCCTGTCTTTGTCTCCTTCCTTCTCGCTGCCCTGTCCCTCTGTCACTCACATTCCCCTTTGTTCCCCACTCCCCACTTTGTTCTCAGCCACCTTCCATCCCCTCATCCCTCCTCTGTCTCCCAGTCCCATCTCTTACCCCTCAGTCCCCTCCCTAACCCCATCTGCACCCCGCCTCTCTGACCACCAACCTCAGTCCTCCCCACTCCAAGGCTCCTCTCTCTCCCCCAGCCCCCGGCCTGTCCCTCTGTCCTCCTTGCATTGCCCCCTCCCCCCAGTACCCCCCTGCCCCTCTCCACTTCCCAGCTGCCTCCCTCTCCCTGTGCTTCTCCTGTCCACGTCTCTCAGGGGGAGCTTCTCCCCTCCCCTCCCCCAGCCTCTCTGCCTCTATCTCCCCTCTAGTCCTTTCTTCCCACGTCCCCACACCTCACCCTCCCCATCTCCAGGCCTTCGGCCAGCCCCTCGCCCCTCACGCCCCTCTTCCCTCACAGACCGCTCGGGCCTGCTGTGTGTGGACAAGATCGAGAAGAGTCAGGAGGCGTACCTGCTGGCGTTCGAGCACTACGTCAACCACCGCAAACACAACATTCCGCACTTCTGGCCCAAGCTGCTGATGAAGGTGACTGACCTCCGCATGATCGGGGCCTGCCACGCCAGCCGCTTCCTCCACATGAAAGTCGAGTGCCCCACCGAACTCTTCCCCCCACTCTTCCTCGAGGTCTTTGAGGATCAGGAAGTCTAAAGCCTCAGGCGGCCAGAGGGTGTGCGGAGCTGGTGGGGAGGAGCCTGGAGAGAAGGGGCAGAGCTGGGGGCTGAGGGAGACCCCCCCACACCCCTTCTCTCCTTCCTCTCGTCCTTGGATAGATTCAGCTCCCACACACACACCCGCACTGCCCAGGTCCCTCCTCAGACCTCCAGCCCTGGGACAGGGCAAACAACTGAACTTGCTATGGAAAGGACAGTGTGGGAGGCTGGGGGAGCTGTGTCCTGCAGTTCCCAGGACCCCATCCTCTCAGAAGGTAGGGGAAGGGCGGGAGGATTGAGAAGGGACAAGCCACCTTGACCGTAGGGGAAGGAGGAATGTGGGCTGGGGGAAGATGCCCTCAACTCACCCCCTACACACACATGAGAGAGAGCCCCCACCCAGTTCCTTGGCCTAGGTCTCCCCTCCAGGCTGAGGGCCTCTCTACTTCCCCAGATGCCTGGGTGCAAAGAACGGCTTGGCTTGGCTCCTCCTCTGGAGGTTAAAATTTATAGTCATTCTAACTGCACTTTGGAAACCAAGCAAGGGGAGAAGACAAATGAAGAAAAACTAGACAGAGAGAAAAATACAAAAAAGAGAGAGCGAGCGATAGAGAGAGATGATATTAAGTTATTAACTGAGGCTGACCAGAGGGGAGGACCCCCCCTTTACCACCCCATGCACTTTGCGAGCTGCCCCTTCTTCCCCCACATCAGAGAGAAATGCCCCCACACCAGAGCCCCAAGGGTAGGGCTGCCGATCAGAGCTGTGAGTTAACACAACAGGGTCCTGGCCACCCCCCTTGCCATACCCCGCCCTCTGTGCCCCTTTGGCACCCCCCAACCCTAGTATGTCCTCTGCTTTCTGCCACTCGTGCCCGCTGAGTTCCATCTACCTCTCATGCTGGATGCCAGCTGGCCCCTCACCAGCCTGCCCTGCTGCCCACACAGCTCCCCTTTAAGTGCCCAGCCCTAGGGGCC
|
TTAGCTGCCCCATGCCTCAGTTTCCACATCTGTGAAATGGTGATTATTATAATTATTCCTTTTAGGATTATGGTCAGGATGAAATAAGACATGTAAAACATGTAGCCTGATGCCTGATCATATATTAAGTATTCAGTCATTATAGCTGCTACTACTGTTACTACCGTTGTTATTATTAGCTGACTTGGAGCTCTGGTTCTGGTCTATTCTCTGCTCAAGATGAAGGAAAAGCTTTGGGCCTGGGACTCAGGCACGGGCGGCCCCTCTTCCCCAAGCTGCCTTGGAGCTCCCCCTGGTGGGCAGGGAGCCTCAGTGAGAGGCTGAAAGGGGTCTGCGGCCCCAGCTGACCCCCGTCTTTCTCTCTAGCCCGATGACATTGGCCAGTCACCCATTGTCTCCATGCCGGACGGAGACAAGGTGGACCTGGAAGCCTTCAGCGAGTTTACCAAGATCATCACCCCGGCCATCACCCGTGTGGTGGACTTTGCCAAAAAACTGCCCATGTTCTCCGAGGTGAGTGGCAGAAGTGGGGAGAGATGTGATGCTGTGCTGGAGGGAAACCTGCTCCCCCGGTCACCCAGTACAGGCTCATCTGAGGTTCTCTGGACAAGGAGCAATTCCTGTAGGTCAACATACACAGATAACATACACAGACACACACACACACATGCATACACATACACCCAGCACACAGGCACACATGCAGACACATACACGGACACACACACACACCTAGCATACAGATACGTACACAGACACACATACACACACACATACACCCAGCACACAGACACACACACACCTAGTACACAAACACACACACAGATACATAGAAACACACACAGACATATACACCCAGCACACAGACACACACACACACACAGACACACACCCAGCACACAGGCACACACACACACACACCTAGCACACAGCCACACAGATACATAGACACACACACACAGATACAGACACACACACACACACAGACATATACACCTAGCACACAGACACACAGATACATAGACACACACCTAGCACACAGACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGAGACAGGCTGCCCTACTAGCCATGTGACCTGGGGTAAGTTACCTCCATCCCCTGTGCCTCAGTGTTCCCATCTGGAGTGGGCTGGGGATAATGATGGGTGCTAACTCACAGGCATAATTTTTTTTTCTTTTTTGAGACAGATTTTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACGCGATCTGGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCATAGTGCTGGCATTATAGTCGTGAGCCACTGCGCCGGGCCTCACAGGCATAACTGTGAGGCTTAAATGGAATAGGGCATGCACATGGCCCAATACAAGGTCAGCCGTTCAGAGTCCATGGGGGCCTTGCGGGCCTCACGGCTCCCGTAGGACACTCTAGGGGAGACTCAAGGACGCGGGGAGGGGTATGCTGAGTGCTCCTGTGGCCCTGCCGCTCCACAGCTGCCTTGCGAAGACCAGATCATCCTCCTGAAGGGGTGCTGCATGGAGATCATGTCCCTGCGGGCGGCTGTCCGCTACGACCCTGAGAGCGACACCCTGACGCTGAGTGGGGAGATGGCTGTCAAGCGGGAGCAGCTCAAGAATGGCAGCCTGGGCGTAGTCTCCGACGCCATCTTTGAACTGGGCAAGTCACTCTCTGCCTTTAACCTGGATGACACGGAAGTGGCTCTGCTGCAGGCTGTGCTGCTAATGTCAACAGGTACCTGCTGATTAGTCGGGAGGGCTCAGAAGCTTCCAGGGGTCCCAGAGATTGGCTGGACCCTGGGCCTGTTGCTCAACTCCCTCCTGAATCTTCTTCTGGGCTACCTCTCTGTCACCTGGGCCATCCCCTATCCCCTGTTCCTTGCTCTGTCACACACTTCTCACTCGTTCCCCAGGCCCATCCCTTGCCTCCCCATCCCTGCTCTGTGCCTTTTCCTGTCTTTGTCTCCTTCCTTCTCGCTGCCCTGTCCCTCTGTCACTCACATTCCCCTTTGTTCCCCACTCCCCACTTTGTTCTCAGCCACCTTCCATCCCCTCATCCCTCCTCTGTCTCCCAGTCCCATCTCTTACCCCTCAGTCCCCTCCCTAACCCCATCTGCACCCCGCCTCTCTGACCACCAACCTCAGTCCTCCCCACTCCAAGGCTCCTCTCTCTCCCCCAGCCCCCGGCCTGTCCCTCTGTCCTCCTTGCATTGCCCCCTCCCCCCAGTACCCCCCTGCCCCTCTCCACTTCCCAGCTGCCTCCCTCTCCCTGTGCTTCTCCTGTCCACGTCTCTCAGGGGGAGCTTCTCCCCTCCCCTCCCCCAGCCTCTCTGCCTCTATCTCCCCTCTAGTCCTTTCTTCCCACGTCCCCACACCTCACCCTCCCCATCTCCAGGCCTTCGGCCAGCCCCTCGCCCCTCACGCCCCTCTTCCCTCACAGACCGCTCGGGCCTGCTGTGTGTGGACAAGATCGAGAAGAGTCAGGAGGCGTACCTGCTGGCGTTCGAGCACTACGTCAACCACCGCAAACACAACATTCCGCACTTCTGGCCCAAGCTGCTGATGAAGGTGACTGACCTCCGCATGATCGGGGCCTGCCACGCCAGCCGCTTCCTCCACATGAAAGTCGAGTGCCCCACCGAACTCTTCCCCCCACTCTTCCTCGAGGTCTTTGAGGATCAGGAAGTCTAAAGCCTCAGGCGGCCAGAGGGTGTGCGGAGCTGGTGGGGAGGAGCCTGGAGAGAAGGGGCAGAGCTGGGGGCTGAGGGAGACCCCCCCACACCCCTTCTCTCCTTCCTCTCGTCCTTGGATAGATTCAGCTCCCACACACACACCCGCACTGCCCAGGTCCCTCCTCAGACCTCCAGCCCTGGGACAGGGCAAACAACTGAACTTGCTATGGAAAGGACAGTGTGGGAGGCTGGGGGAGCTGTGTCCTGCAGTTCCCAGGACCCCATCCTCTCAGAAGGTAGGGGAAGGGCGGGAGGATTGAGAAGGGACAAGCCACCTTGACCGTAGGGGAAGGAGGAATGTGGGCTGGGGGAAGATGCCCTCAACTCACCCCCTACACACACATGAGAGAGAGCCCCCACCCAGTTCCTTGGCCTAGGTCTCCCCTCCAGGCTGAGGGCCTCTCTACTTCCCCAGATGCCTGGGTGCAAAGAACGGCTTGGCTTGGCTCCTCCTCTGGAGGTTAAAATTTATAGTCATTCTAACTGCACTTTGGAAACCAAGCAAGGGGAGAAGACAAATGAAGAAAAACTAGACAGAGAGAAAAATACAAAAAAGAGAGAGCGAGCGATAGAGAGAGATGATATTAAGTTATTAACTGAGGCTGACCAGAGGGGAGGACCCCCCCTTTACCACCCCATGCACTTTGCGAGCTGCCCCTTCTTCCCCCACATCAGAGAGAAATGCCCCCACACCAGAGCCCCAAGGGTAGGGCTGCCGATCAGAGCTGTGAGTTAACACAACAGGGTCCTGGCCACCCCCCTTGCCATACCCCGCCCTCTGTGCCCCTTTGGCACCCCCCAACCCTAGTATGTCCTCTGCTTTCTGCCACTCGTGCCCGCTGAGTTCCATCTACCTCTCATGCTGGATGCCAGCTGGCCCCTCACCAGCCTGCCCTGCTGCCCACACAGCTCCCCTTTAAGTGCCCAGCCCTAGGGGCC
|
Task1_train_24229
|
A mutation found in THRA (thyroid hormone receptor alpha) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Congenital nongoitrous hypothyroidism 6
|
ATAGACACACACACACAGATACAGACACACACACACACACAGACATATACACCTAGCACACAGACACACAGATACATAGACACACACCTAGCACACAGACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGAGACAGGCTGCCCTACTAGCCATGTGACCTGGGGTAAGTTACCTCCATCCCCTGTGCCTCAGTGTTCCCATCTGGAGTGGGCTGGGGATAATGATGGGTGCTAACTCACAGGCATAATTTTTTTTTCTTTTTTGAGACAGATTTTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACGCGATCTGGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCATAGTGCTGGCATTATAGTCGTGAGCCACTGCGCCGGGCCTCACAGGCATAACTGTGAGGCTTAAATGGAATAGGGCATGCACATGGCCCAATACAAGGTCAGCCGTTCAGAGTCCATGGGGGCCTTGCGGGCCTCACGGCTCCCGTAGGACACTCTAGGGGAGACTCAAGGACGCGGGGAGGGGTATGCTGAGTGCTCCTGTGGCCCTGCCGCTCCACAGCTGCCTTGCGAAGACCAGATCATCCTCCTGAAGGGGTGCTGCATGGAGATCATGTCCCTGCGGGCGGCTGTCCGCTACGACCCTGAGAGCGACACCCTGACGCTGAGTGGGGAGATGGCTGTCAAGCGGGAGCAGCTCAAGAATGGCGGCCTGGGCGTAGTCTCCGACGCCATCTTTGAACTGGGCAAGTCACTCTCTGCCTTTAACCTGGATGACACGGAAGTGGCTCTGCTGCAGGCTGTGCTGCTAATGTCAACAGGTACCTGCTGATTAGTCGGGAGGGCTCAGAAGCTTCCAGGGGTCCCAGAGATTGGCTGGACCCTGGGCCTGTTGCTCAACTCCCTCCTGAATCTTCTTCTGGGCTACCTCTCTGTCACCTGGGCCATCCCCTATCCCCTGTTCCTTGCTCTGTCACACACTTCTCACTCGTTCCCCAGGCCCATCCCTTGCCTCCCCATCCCTGCTCTGTGCCTTTTCCTGTCTTTGTCTCCTTCCTTCTCGCTGCCCTGTCCCTCTGTCACTCACATTCCCCTTTGTTCCCCACTCCCCACTTTGTTCTCAGCCACCTTCCATCCCCTCATCCCTCCTCTGTCTCCCAGTCCCATCTCTTACCCCTCAGTCCCCTCCCTAACCCCATCTGCACCCCGCCTCTCTGACCACCAACCTCAGTCCTCCCCACTCCAAGGCTCCTCTCTCTCCCCCAGCCCCCGGCCTGTCCCTCTGTCCTCCTTGCATTGCCCCCTCCCCCCAGTACCCCCCTGCCCCTCTCCACTTCCCAGCTGCCTCCCTCTCCCTGTGCTTCTCCTGTCCACGTCTCTCAGGGGGAGCTTCTCCCCTCCCCTCCCCCAGCCTCTCTGCCTCTATCTCCCCTCTAGTCCTTTCTTCCCACGTCCCCACACCTCACCCTCCCCATCTCCAGGCCTTCGGCCAGCCCCTCGCCCCTCACGCCCCTCTTCCCTCACAGACCGCTCGGGCCTGCTGTGTGTGGACAAGATCGAGAAGAGTCAGGAGGCGTACCTGCTGGCGTTCGAGCACTACGTCAACCACCGCAAACACAACATTCCGCACTTCTGGCCCAAGCTGCTGATGAAGGTGACTGACCTCCGCATGATCGGGGCCTGCCACGCCAGCCGCTTCCTCCACATGAAAGTCGAGTGCCCCACCGAACTCTTCCCCCCACTCTTCCTCGAGGTCTTTGAGGATCAGGAAGTCTAAAGCCTCAGGCGGCCAGAGGGTGTGCGGAGCTGGTGGGGAGGAGCCTGGAGAGAAGGGGCAGAGCTGGGGGCTGAGGGAGACCCCCCCACACCCCTTCTCTCCTTCCTCTCGTCCTTGGATAGATTCAGCTCCCACACACACACCCGCACTGCCCAGGTCCCTCCTCAGACCTCCAGCCCTGGGACAGGGCAAACAACTGAACTTGCTATGGAAAGGACAGTGTGGGAGGCTGGGGGAGCTGTGTCCTGCAGTTCCCAGGACCCCATCCTCTCAGAAGGTAGGGGAAGGGCGGGAGGATTGAGAAGGGACAAGCCACCTTGACCGTAGGGGAAGGAGGAATGTGGGCTGGGGGAAGATGCCCTCAACTCACCCCCTACACACACATGAGAGAGAGCCCCCACCCAGTTCCTTGGCCTAGGTCTCCCCTCCAGGCTGAGGGCCTCTCTACTTCCCCAGATGCCTGGGTGCAAAGAACGGCTTGGCTTGGCTCCTCCTCTGGAGGTTAAAATTTATAGTCATTCTAACTGCACTTTGGAAACCAAGCAAGGGGAGAAGACAAATGAAGAAAAACTAGACAGAGAGAAAAATACAAAAAAGAGAGAGCGAGCGATAGAGAGAGATGATATTAAGTTATTAACTGAGGCTGACCAGAGGGGAGGACCCCCCCTTTACCACCCCATGCACTTTGCGAGCTGCCCCTTCTTCCCCCACATCAGAGAGAAATGCCCCCACACCAGAGCCCCAAGGGTAGGGCTGCCGATCAGAGCTGTGAGTTAACACAACAGGGTCCTGGCCACCCCCCTTGCCATACCCCGCCCTCTGTGCCCCTTTGGCACCCCCCAACCCTAGTATGTCCTCTGCTTTCTGCCACTCGTGCCCGCTGAGTTCCATCTACCTCTCATGCTGGATGCCAGCTGGCCCCTCACCAGCCTGCCCTGCTGCCCACACAGCTCCCCTTTAAGTGCCCAGCCCTAGGGGCCTCTCCCCATCCACCTCCTCCTTCCACACCTTGGCACCCACCCAGGAAAAAACTGTGGCTCCAACTCCTACCCTCCTTATATCCTGCAGTATTAGCTAGAAACCGGATGCTGCTGCATTGGTTGGGTCGGGGGTAGGAGGGCTGTGCGTGAGCGTCTCCCAGAACCCTCCACCCCTTTAGCACTCTGTTTCCCTGTTTCCCATCTGTCTTCTGGGCTCTCTCTAACCTCTGCCCTCCTCCCCAGCTCCTACTCACTGCACTAACTCTGGGCGGGCAGGTACCAGAATGGGGGTGTTTAGATAAGTGACACTTAGTTGGGGCCCCAGGGGAGGGGTGGTCGGTGCTCCTTTTTCTTTAAAGCTCTTTTGGCCAGCTGCCCCTCTGCCCCGGGACCCCTTCCCCTCTTCTTTTCTCTAATTCAGGGACTTTGGCTTGAGCCCCTCTCGCCCTCCTGGTGAGGGTGCTCTGTTGGTCTGCACTTGGGTGAGCTGTCCTCCTCCCCCTCCCTGTGGCTGCCGCCCACTCCTCAGGGGAGAGAGGGAGAGAGGAGGTGGTCCTCCCATGGGAGCAGGAGGTGGGGTGGGACAGAGCAGACCAGAGGGTGCTGGGCTCAGGGCTGCATGTCGGCAGGGATGGATGGGTGGACACAGATGCCCCCGGAAGCCATGGGGATTGGGGCAGGGGGTGGGGGGAGGGGTGCCAGGGCTTCCTGCGCTTTGCACTATTGGGGCAAAAATGTCTTAAGCAGTGGGGAACCTGCCACCCCACCCTGACCCTCAGCCTGCCACAGCCCCCTACACACACACACACACACACACACACACACACACACACACGGACATGCACACACGGACATGGGAAGGCAATGCTATGCTGCCCGTCAGGGCACTGTCCTTCCCCAATCGTTCAGGTGTTCCAACAGGGGTGGAGGGCCTGGAGGAGCAC
|
ATAGACACACACACACAGATACAGACACACACACACACACAGACATATACACCTAGCACACAGACACACAGATACATAGACACACACCTAGCACACAGACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGAGACAGGCTGCCCTACTAGCCATGTGACCTGGGGTAAGTTACCTCCATCCCCTGTGCCTCAGTGTTCCCATCTGGAGTGGGCTGGGGATAATGATGGGTGCTAACTCACAGGCATAATTTTTTTTTCTTTTTTGAGACAGATTTTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACGCGATCTGGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCATAGTGCTGGCATTATAGTCGTGAGCCACTGCGCCGGGCCTCACAGGCATAACTGTGAGGCTTAAATGGAATAGGGCATGCACATGGCCCAATACAAGGTCAGCCGTTCAGAGTCCATGGGGGCCTTGCGGGCCTCACGGCTCCCGTAGGACACTCTAGGGGAGACTCAAGGACGCGGGGAGGGGTATGCTGAGTGCTCCTGTGGCCCTGCCGCTCCACAGCTGCCTTGCGAAGACCAGATCATCCTCCTGAAGGGGTGCTGCATGGAGATCATGTCCCTGCGGGCGGCTGTCCGCTACGACCCTGAGAGCGACACCCTGACGCTGAGTGGGGAGATGGCTGTCAAGCGGGAGCAGCTCAAGAATGGCGGCCTGGGCGTAGTCTCCGACGCCATCTTTGAACTGGGCAAGTCACTCTCTGCCTTTAACCTGGATGACACGGAAGTGGCTCTGCTGCAGGCTGTGCTGCTAATGTCAACAGGTACCTGCTGATTAGTCGGGAGGGCTCAGAAGCTTCCAGGGGTCCCAGAGATTGGCTGGACCCTGGGCCTGTTGCTCAACTCCCTCCTGAATCTTCTTCTGGGCTACCTCTCTGTCACCTGGGCCATCCCCTATCCCCTGTTCCTTGCTCTGTCACACACTTCTCACTCGTTCCCCAGGCCCATCCCTTGCCTCCCCATCCCTGCTCTGTGCCTTTTCCTGTCTTTGTCTCCTTCCTTCTCGCTGCCCTGTCCCTCTGTCACTCACATTCCCCTTTGTTCCCCACTCCCCACTTTGTTCTCAGCCACCTTCCATCCCCTCATCCCTCCTCTGTCTCCCAGTCCCATCTCTTACCCCTCAGTCCCCTCCCTAACCCCATCTGCACCCCGCCTCTCTGACCACCAACCTCAGTCCTCCCCACTCCAAGGCTCCTCTCTCTCCCCCAGCCCCCGGCCTGTCCCTCTGTCCTCCTTGCATTGCCCCCTCCCCCCAGTACCCCCCTGCCCCTCTCCACTTCCCAGCTGCCTCCCTCTCCCTGTGCTTCTCCTGTCCACGTCTCTCAGGGGGAGCTTCTCCCCTCCCCTCCCCCAGCCTCTCTGCCTCTATCTCCCCTCTAGTCCTTTCTTCCCACGTCCCCACACCTCACCCTCCCCATCTCCAGGCCTTCGGCCAGCCCCTCGCCCCTCACGCCCCTCTTCCCTCACAGACCGCTCGGGCCTGCTGTGTGTGGACAAGATCGAGAAGAGTCAGGAGGCGTACCTGCTGGCGTTCGAGCACTACGTCAACCACCGCAAACACAACATTCCGCACTTCTGGCCCAAGCTGCTGATGAACGTGACTGACCTCCGCATGATCGGGGCCTGCCACGCCAGCCGCTTCCTCCACATGAAAGTCGAGTGCCCCACCGAACTCTTCCCCCCACTCTTCCTCGAGGTCTTTGAGGATCAGGAAGTCTAAAGCCTCAGGCGGCCAGAGGGTGTGCGGAGCTGGTGGGGAGGAGCCTGGAGAGAAGGGGCAGAGCTGGGGGCTGAGGGAGACCCCCCCACACCCCTTCTCTCCTTCCTCTCGTCCTTGGATAGATTCAGCTCCCACACACACACCCGCACTGCCCAGGTCCCTCCTCAGACCTCCAGCCCTGGGACAGGGCAAACAACTGAACTTGCTATGGAAAGGACAGTGTGGGAGGCTGGGGGAGCTGTGTCCTGCAGTTCCCAGGACCCCATCCTCTCAGAAGGTAGGGGAAGGGCGGGAGGATTGAGAAGGGACAAGCCACCTTGACCGTAGGGGAAGGAGGAATGTGGGCTGGGGGAAGATGCCCTCAACTCACCCCCTACACACACATGAGAGAGAGCCCCCACCCAGTTCCTTGGCCTAGGTCTCCCCTCCAGGCTGAGGGCCTCTCTACTTCCCCAGATGCCTGGGTGCAAAGAACGGCTTGGCTTGGCTCCTCCTCTGGAGGTTAAAATTTATAGTCATTCTAACTGCACTTTGGAAACCAAGCAAGGGGAGAAGACAAATGAAGAAAAACTAGACAGAGAGAAAAATACAAAAAAGAGAGAGCGAGCGATAGAGAGAGATGATATTAAGTTATTAACTGAGGCTGACCAGAGGGGAGGACCCCCCCTTTACCACCCCATGCACTTTGCGAGCTGCCCCTTCTTCCCCCACATCAGAGAGAAATGCCCCCACACCAGAGCCCCAAGGGTAGGGCTGCCGATCAGAGCTGTGAGTTAACACAACAGGGTCCTGGCCACCCCCCTTGCCATACCCCGCCCTCTGTGCCCCTTTGGCACCCCCCAACCCTAGTATGTCCTCTGCTTTCTGCCACTCGTGCCCGCTGAGTTCCATCTACCTCTCATGCTGGATGCCAGCTGGCCCCTCACCAGCCTGCCCTGCTGCCCACACAGCTCCCCTTTAAGTGCCCAGCCCTAGGGGCCTCTCCCCATCCACCTCCTCCTTCCACACCTTGGCACCCACCCAGGAAAAAACTGTGGCTCCAACTCCTACCCTCCTTATATCCTGCAGTATTAGCTAGAAACCGGATGCTGCTGCATTGGTTGGGTCGGGGGTAGGAGGGCTGTGCGTGAGCGTCTCCCAGAACCCTCCACCCCTTTAGCACTCTGTTTCCCTGTTTCCCATCTGTCTTCTGGGCTCTCTCTAACCTCTGCCCTCCTCCCCAGCTCCTACTCACTGCACTAACTCTGGGCGGGCAGGTACCAGAATGGGGGTGTTTAGATAAGTGACACTTAGTTGGGGCCCCAGGGGAGGGGTGGTCGGTGCTCCTTTTTCTTTAAAGCTCTTTTGGCCAGCTGCCCCTCTGCCCCGGGACCCCTTCCCCTCTTCTTTTCTCTAATTCAGGGACTTTGGCTTGAGCCCCTCTCGCCCTCCTGGTGAGGGTGCTCTGTTGGTCTGCACTTGGGTGAGCTGTCCTCCTCCCCCTCCCTGTGGCTGCCGCCCACTCCTCAGGGGAGAGAGGGAGAGAGGAGGTGGTCCTCCCATGGGAGCAGGAGGTGGGGTGGGACAGAGCAGACCAGAGGGTGCTGGGCTCAGGGCTGCATGTCGGCAGGGATGGATGGGTGGACACAGATGCCCCCGGAAGCCATGGGGATTGGGGCAGGGGGTGGGGGGAGGGGTGCCAGGGCTTCCTGCGCTTTGCACTATTGGGGCAAAAATGTCTTAAGCAGTGGGGAACCTGCCACCCCACCCTGACCCTCAGCCTGCCACAGCCCCCTACACACACACACACACACACACACACACACACACACACACGGACATGCACACACGGACATGGGAAGGCAATGCTATGCTGCCCGTCAGGGCACTGTCCTTCCCCAATCGTTCAGGTGTTCCAACAGGGGTGGAGGGCCTGGAGGAGCAC
|
Task1_train_24230
|
Here is a genetic alteration in THRA (thyroid hormone receptor alpha) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; not provided
|
AGACATATACACCTAGCACACAGACACACAGATACATAGACACACACCTAGCACACAGACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGAGACAGGCTGCCCTACTAGCCATGTGACCTGGGGTAAGTTACCTCCATCCCCTGTGCCTCAGTGTTCCCATCTGGAGTGGGCTGGGGATAATGATGGGTGCTAACTCACAGGCATAATTTTTTTTTCTTTTTTGAGACAGATTTTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACGCGATCTGGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCATAGTGCTGGCATTATAGTCGTGAGCCACTGCGCCGGGCCTCACAGGCATAACTGTGAGGCTTAAATGGAATAGGGCATGCACATGGCCCAATACAAGGTCAGCCGTTCAGAGTCCATGGGGGCCTTGCGGGCCTCACGGCTCCCGTAGGACACTCTAGGGGAGACTCAAGGACGCGGGGAGGGGTATGCTGAGTGCTCCTGTGGCCCTGCCGCTCCACAGCTGCCTTGCGAAGACCAGATCATCCTCCTGAAGGGGTGCTGCATGGAGATCATGTCCCTGCGGGCGGCTGTCCGCTACGACCCTGAGAGCGACACCCTGACGCTGAGTGGGGAGATGGCTGTCAAGCGGGAGCAGCTCAAGAATGGCGGCCTGGGCGTAGTCTCCGACGCCATCTTTGAACTGGGCAAGTCACTCTCTGCCTTTAACCTGGATGACACGGAAGTGGCTCTGCTGCAGGCTGTGCTGCTAATGTCAACAGGTACCTGCTGATTAGTCGGGAGGGCTCAGAAGCTTCCAGGGGTCCCAGAGATTGGCTGGACCCTGGGCCTGTTGCTCAACTCCCTCCTGAATCTTCTTCTGGGCTACCTCTCTGTCACCTGGGCCATCCCCTATCCCCTGTTCCTTGCTCTGTCACACACTTCTCACTCGTTCCCCAGGCCCATCCCTTGCCTCCCCATCCCTGCTCTGTGCCTTTTCCTGTCTTTGTCTCCTTCCTTCTCGCTGCCCTGTCCCTCTGTCACTCACATTCCCCTTTGTTCCCCACTCCCCACTTTGTTCTCAGCCACCTTCCATCCCCTCATCCCTCCTCTGTCTCCCAGTCCCATCTCTTACCCCTCAGTCCCCTCCCTAACCCCATCTGCACCCCGCCTCTCTGACCACCAACCTCAGTCCTCCCCACTCCAAGGCTCCTCTCTCTCCCCCAGCCCCCGGCCTGTCCCTCTGTCCTCCTTGCATTGCCCCCTCCCCCCAGTACCCCCCTGCCCCTCTCCACTTCCCAGCTGCCTCCCTCTCCCTGTGCTTCTCCTGTCCACGTCTCTCAGGGGGAGCTTCTCCCCTCCCCTCCCCCAGCCTCTCTGCCTCTATCTCCCCTCTAGTCCTTTCTTCCCACGTCCCCACACCTCACCCTCCCCATCTCCAGGCCTTCGGCCAGCCCCTCGCCCCTCACGCCCCTCTTCCCTCACAGACCGCTCGGGCCTGCTGTGTGTGGACAAGATCGAGAAGAGTCAGGAGGCGTACCTGCTGGCGTTCGAGCACTACGTCAACCACCGCAAACACAACATTCCGCACTTCTGGCCCAAGCTGCTGATGAAGGTGACTGACCTCCGCATGATCGGGGCCTGCCACGCCAGCCGCTTCCTCCACATGAAAGTCGAGTGCCCCACCGAACTCTTCCCCCCACTCTTCCTCGAGGTCTTTGAGGATCAGGAAGTCTAAAGCCTCAGGCGGCCAGAGGGTGTGCGGAGCTGGTGGGGAGGAGCCTGGAGAGAAGGGGCAGAGCTGGGGGCTGAGGGAGACCCCCCCACACCCCTTCTCTCCTTCCTCTCGTCCTTGGATAGATTCAGCTCCCACACACACACCCGCACTGCCCAGGTCCCTCCTCAGACCTCCAGCCCTGGGACAGGGCAAACAACTGAACTTGCTATGGAAAGGACAGTGTGGGAGGCTGGGGGAGCTGTGTCCTGCAGTTCCCAGGACCCCATCCTCTCAGAAGGTAGGGGAAGGGCGGGAGGATTGAGAAGGGACAAGCCACCTTGACCGTAGGGGAAGGAGGAATGTGGGCTGGGGGAAGATGCCCTCAACTCACCCCCTACACACACATGAGAGAGAGCCCCCACCCAGTTCCTTGGCCTAGGTCTCCCCTCCAGGCTGAGGGCCTCTCTACTTCCCCAGATGCCTGGGTGCAAAGAACGGCTTGGCTTGGCTCCTCCTCTGGAGGTTAAAATTTATAGTCATTCTAACTGCACTTTGGAAACCAAGCAAGGGGAGAAGACAAATGAAGAAAAACTAGACAGAGAGAAAAATACAAAAAAGAGAGAGCGAGCGATAGAGAGAGATGATATTAAGTTATTAACTGAGGCTGACCAGAGGGGAGGACCCCCCCTTTACCACCCCATGCACTTTGCGAGCTGCCCCTTCTTCCCCCACATCAGAGAGAAATGCCCCCACACCAGAGCCCCAAGGGTAGGGCTGCCGATCAGAGCTGTGAGTTAACACAACAGGGTCCTGGCCACCCCCCTTGCCATACCCCGCCCTCTGTGCCCCTTTGGCACCCCCCAACCCTAGTATGTCCTCTGCTTTCTGCCACTCGTGCCCGCTGAGTTCCATCTACCTCTCATGCTGGATGCCAGCTGGCCCCTCACCAGCCTGCCCTGCTGCCCACACAGCTCCCCTTTAAGTGCCCAGCCCTAGGGGCCTCTCCCCATCCACCTCCTCCTTCCACACCTTGGCACCCACCCAGGAAAAAACTGTGGCTCCAACTCCTACCCTCCTTATATCCTGCAGTATTAGCTAGAAACCGGATGCTGCTGCATTGGTTGGGTCGGGGGTAGGAGGGCTGTGCGTGAGCGTCTCCCAGAACCCTCCACCCCTTTAGCACTCTGTTTCCCTGTTTCCCATCTGTCTTCTGGGCTCTCTCTAACCTCTGCCCTCCTCCCCAGCTCCTACTCACTGCACTAACTCTGGGCGGGCAGGTACCAGAATGGGGGTGTTTAGATAAGTGACACTTAGTTGGGGCCCCAGGGGAGGGGTGGTCGGTGCTCCTTTTTCTTTAAAGCTCTTTTGGCCAGCTGCCCCTCTGCCCCGGGACCCCTTCCCCTCTTCTTTTCTCTAATTCAGGGACTTTGGCTTGAGCCCCTCTCGCCCTCCTGGTGAGGGTGCTCTGTTGGTCTGCACTTGGGTGAGCTGTCCTCCTCCCCCTCCCTGTGGCTGCCGCCCACTCCTCAGGGGAGAGAGGGAGAGAGGAGGTGGTCCTCCCATGGGAGCAGGAGGTGGGGTGGGACAGAGCAGACCAGAGGGTGCTGGGCTCAGGGCTGCATGTCGGCAGGGATGGATGGGTGGACACAGATGCCCCCGGAAGCCATGGGGATTGGGGCAGGGGGTGGGGGGAGGGGTGCCAGGGCTTCCTGCGCTTTGCACTATTGGGGCAAAAATGTCTTAAGCAGTGGGGAACCTGCCACCCCACCCTGACCCTCAGCCTGCCACAGCCCCCTACACACACACACACACACACACACACACACACACACACACGGACATGCACACACGGACATGGGAAGGCAATGCTATGCTGCCCGTCAGGGCACTGTCCTTCCCCAATCGTTCAGGTGTTCCAACAGGGGTGGAGGGCCTGGAGGAGCACCCGCTGTCACCTGTGCATGTGCCTGTCCCACCCTGCTGGG
|
AGACATATACACCTAGCACACAGACACACAGATACATAGACACACACCTAGCACACAGACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGAGACAGGCTGCCCTACTAGCCATGTGACCTGGGGTAAGTTACCTCCATCCCCTGTGCCTCAGTGTTCCCATCTGGAGTGGGCTGGGGATAATGATGGGTGCTAACTCACAGGCATAATTTTTTTTTCTTTTTTGAGACAGATTTTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACGCGATCTGGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCATAGTGCTGGCATTATAGTCGTGAGCCACTGCGCCGGGCCTCACAGGCATAACTGTGAGGCTTAAATGGAATAGGGCATGCACATGGCCCAATACAAGGTCAGCCGTTCAGAGTCCATGGGGGCCTTGCGGGCCTCACGGCTCCCGTAGGACACTCTAGGGGAGACTCAAGGACGCGGGGAGGGGTATGCTGAGTGCTCCTGTGGCCCTGCCGCTCCACAGCTGCCTTGCGAAGACCAGATCATCCTCCTGAAGGGGTGCTGCATGGAGATCATGTCCCTGCGGGCGGCTGTCCGCTACGACCCTGAGAGCGACACCCTGACGCTGAGTGGGGAGATGGCTGTCAAGCGGGAGCAGCTCAAGAATGGCGGCCTGGGCGTAGTCTCCGACGCCATCTTTGAACTGGGCAAGTCACTCTCTGCCTTTAACCTGGATGACACGGAAGTGGCTCTGCTGCAGGCTGTGCTGCTAATGTCAACAGGTACCTGCTGATTAGTCGGGAGGGCTCAGAAGCTTCCAGGGGTCCCAGAGATTGGCTGGACCCTGGGCCTGTTGCTCAACTCCCTCCTGAATCTTCTTCTGGGCTACCTCTCTGTCACCTGGGCCATCCCCTATCCCCTGTTCCTTGCTCTGTCACACACTTCTCACTCGTTCCCCAGGCCCATCCCTTGCCTCCCCATCCCTGCTCTGTGCCTTTTCCTGTCTTTGTCTCCTTCCTTCTCGCTGCCCTGTCCCTCTGTCACTCACATTCCCCTTTGTTCCCCACTCCCCACTTTGTTCTCAGCCACCTTCCATCCCCTCATCCCTCCTCTGTCTCCCAGTCCCATCTCTTACCCCTCAGTCCCCTCCCTAACCCCATCTGCACCCCGCCTCTCTGACCACCAACCTCAGTCCTCCCCACTCCAAGGCTCCTCTCTCTCCCCCAGCCCCCGGCCTGTCCCTCTGTCCTCCTTGCATTGCCCCCTCCCCCCAGTACCCCCCTGCCCCTCTCCACTTCCCAGCTGCCTCCCTCTCCCTGTGCTTCTCCTGTCCACGTCTCTCAGGGGGAGCTTCTCCCCTCCCCTCCCCCAGCCTCTCTGCCTCTATCTCCCCTCTAGTCCTTTCTTCCCACGTCCCCACACCTCACCCTCCCCATCTCCAGGCCTTCGGCCAGCCCCTCGCCCCTCACGCCCCTCTTCCCTCACAGACCGCTCGGGCCTGCTGTGTGTGGACAAGATCGAGAAGAGTCAGGAGGCGTACCTGCTGGCGTTCGAGCACTACGTCAACCACCGCAAACACAACATTCCGCACTTCTGGCCCAAGCTGCTGATGAAGGTGACTGACCTCCGCATGATCGGGGCCTGCCACGCCAGCTGCTTCCTCCACATGAAAGTCGAGTGCCCCACCGAACTCTTCCCCCCACTCTTCCTCGAGGTCTTTGAGGATCAGGAAGTCTAAAGCCTCAGGCGGCCAGAGGGTGTGCGGAGCTGGTGGGGAGGAGCCTGGAGAGAAGGGGCAGAGCTGGGGGCTGAGGGAGACCCCCCCACACCCCTTCTCTCCTTCCTCTCGTCCTTGGATAGATTCAGCTCCCACACACACACCCGCACTGCCCAGGTCCCTCCTCAGACCTCCAGCCCTGGGACAGGGCAAACAACTGAACTTGCTATGGAAAGGACAGTGTGGGAGGCTGGGGGAGCTGTGTCCTGCAGTTCCCAGGACCCCATCCTCTCAGAAGGTAGGGGAAGGGCGGGAGGATTGAGAAGGGACAAGCCACCTTGACCGTAGGGGAAGGAGGAATGTGGGCTGGGGGAAGATGCCCTCAACTCACCCCCTACACACACATGAGAGAGAGCCCCCACCCAGTTCCTTGGCCTAGGTCTCCCCTCCAGGCTGAGGGCCTCTCTACTTCCCCAGATGCCTGGGTGCAAAGAACGGCTTGGCTTGGCTCCTCCTCTGGAGGTTAAAATTTATAGTCATTCTAACTGCACTTTGGAAACCAAGCAAGGGGAGAAGACAAATGAAGAAAAACTAGACAGAGAGAAAAATACAAAAAAGAGAGAGCGAGCGATAGAGAGAGATGATATTAAGTTATTAACTGAGGCTGACCAGAGGGGAGGACCCCCCCTTTACCACCCCATGCACTTTGCGAGCTGCCCCTTCTTCCCCCACATCAGAGAGAAATGCCCCCACACCAGAGCCCCAAGGGTAGGGCTGCCGATCAGAGCTGTGAGTTAACACAACAGGGTCCTGGCCACCCCCCTTGCCATACCCCGCCCTCTGTGCCCCTTTGGCACCCCCCAACCCTAGTATGTCCTCTGCTTTCTGCCACTCGTGCCCGCTGAGTTCCATCTACCTCTCATGCTGGATGCCAGCTGGCCCCTCACCAGCCTGCCCTGCTGCCCACACAGCTCCCCTTTAAGTGCCCAGCCCTAGGGGCCTCTCCCCATCCACCTCCTCCTTCCACACCTTGGCACCCACCCAGGAAAAAACTGTGGCTCCAACTCCTACCCTCCTTATATCCTGCAGTATTAGCTAGAAACCGGATGCTGCTGCATTGGTTGGGTCGGGGGTAGGAGGGCTGTGCGTGAGCGTCTCCCAGAACCCTCCACCCCTTTAGCACTCTGTTTCCCTGTTTCCCATCTGTCTTCTGGGCTCTCTCTAACCTCTGCCCTCCTCCCCAGCTCCTACTCACTGCACTAACTCTGGGCGGGCAGGTACCAGAATGGGGGTGTTTAGATAAGTGACACTTAGTTGGGGCCCCAGGGGAGGGGTGGTCGGTGCTCCTTTTTCTTTAAAGCTCTTTTGGCCAGCTGCCCCTCTGCCCCGGGACCCCTTCCCCTCTTCTTTTCTCTAATTCAGGGACTTTGGCTTGAGCCCCTCTCGCCCTCCTGGTGAGGGTGCTCTGTTGGTCTGCACTTGGGTGAGCTGTCCTCCTCCCCCTCCCTGTGGCTGCCGCCCACTCCTCAGGGGAGAGAGGGAGAGAGGAGGTGGTCCTCCCATGGGAGCAGGAGGTGGGGTGGGACAGAGCAGACCAGAGGGTGCTGGGCTCAGGGCTGCATGTCGGCAGGGATGGATGGGTGGACACAGATGCCCCCGGAAGCCATGGGGATTGGGGCAGGGGGTGGGGGGAGGGGTGCCAGGGCTTCCTGCGCTTTGCACTATTGGGGCAAAAATGTCTTAAGCAGTGGGGAACCTGCCACCCCACCCTGACCCTCAGCCTGCCACAGCCCCCTACACACACACACACACACACACACACACACACACACACACGGACATGCACACACGGACATGGGAAGGCAATGCTATGCTGCCCGTCAGGGCACTGTCCTTCCCCAATCGTTCAGGTGTTCCAACAGGGGTGGAGGGCCTGGAGGAGCACCCGCTGTCACCTGTGCATGTGCCTGTCCCACCCTGCTGGG
|
Task1_train_24231
|
A sequence alteration has been identified in THRA (thyroid hormone receptor alpha) on Chromosome 17. Is it disease-inducing or harmless?
|
Pathogenic; Congenital nongoitrous hypothyroidism 6
|
ACACCTAGCACACAGACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGAGACAGGCTGCCCTACTAGCCATGTGACCTGGGGTAAGTTACCTCCATCCCCTGTGCCTCAGTGTTCCCATCTGGAGTGGGCTGGGGATAATGATGGGTGCTAACTCACAGGCATAATTTTTTTTTCTTTTTTGAGACAGATTTTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACGCGATCTGGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCATAGTGCTGGCATTATAGTCGTGAGCCACTGCGCCGGGCCTCACAGGCATAACTGTGAGGCTTAAATGGAATAGGGCATGCACATGGCCCAATACAAGGTCAGCCGTTCAGAGTCCATGGGGGCCTTGCGGGCCTCACGGCTCCCGTAGGACACTCTAGGGGAGACTCAAGGACGCGGGGAGGGGTATGCTGAGTGCTCCTGTGGCCCTGCCGCTCCACAGCTGCCTTGCGAAGACCAGATCATCCTCCTGAAGGGGTGCTGCATGGAGATCATGTCCCTGCGGGCGGCTGTCCGCTACGACCCTGAGAGCGACACCCTGACGCTGAGTGGGGAGATGGCTGTCAAGCGGGAGCAGCTCAAGAATGGCGGCCTGGGCGTAGTCTCCGACGCCATCTTTGAACTGGGCAAGTCACTCTCTGCCTTTAACCTGGATGACACGGAAGTGGCTCTGCTGCAGGCTGTGCTGCTAATGTCAACAGGTACCTGCTGATTAGTCGGGAGGGCTCAGAAGCTTCCAGGGGTCCCAGAGATTGGCTGGACCCTGGGCCTGTTGCTCAACTCCCTCCTGAATCTTCTTCTGGGCTACCTCTCTGTCACCTGGGCCATCCCCTATCCCCTGTTCCTTGCTCTGTCACACACTTCTCACTCGTTCCCCAGGCCCATCCCTTGCCTCCCCATCCCTGCTCTGTGCCTTTTCCTGTCTTTGTCTCCTTCCTTCTCGCTGCCCTGTCCCTCTGTCACTCACATTCCCCTTTGTTCCCCACTCCCCACTTTGTTCTCAGCCACCTTCCATCCCCTCATCCCTCCTCTGTCTCCCAGTCCCATCTCTTACCCCTCAGTCCCCTCCCTAACCCCATCTGCACCCCGCCTCTCTGACCACCAACCTCAGTCCTCCCCACTCCAAGGCTCCTCTCTCTCCCCCAGCCCCCGGCCTGTCCCTCTGTCCTCCTTGCATTGCCCCCTCCCCCCAGTACCCCCCTGCCCCTCTCCACTTCCCAGCTGCCTCCCTCTCCCTGTGCTTCTCCTGTCCACGTCTCTCAGGGGGAGCTTCTCCCCTCCCCTCCCCCAGCCTCTCTGCCTCTATCTCCCCTCTAGTCCTTTCTTCCCACGTCCCCACACCTCACCCTCCCCATCTCCAGGCCTTCGGCCAGCCCCTCGCCCCTCACGCCCCTCTTCCCTCACAGACCGCTCGGGCCTGCTGTGTGTGGACAAGATCGAGAAGAGTCAGGAGGCGTACCTGCTGGCGTTCGAGCACTACGTCAACCACCGCAAACACAACATTCCGCACTTCTGGCCCAAGCTGCTGATGAAGGTGACTGACCTCCGCATGATCGGGGCCTGCCACGCCAGCCGCTTCCTCCACATGAAAGTCGAGTGCCCCACCGAACTCTTCCCCCCACTCTTCCTCGAGGTCTTTGAGGATCAGGAAGTCTAAAGCCTCAGGCGGCCAGAGGGTGTGCGGAGCTGGTGGGGAGGAGCCTGGAGAGAAGGGGCAGAGCTGGGGGCTGAGGGAGACCCCCCCACACCCCTTCTCTCCTTCCTCTCGTCCTTGGATAGATTCAGCTCCCACACACACACCCGCACTGCCCAGGTCCCTCCTCAGACCTCCAGCCCTGGGACAGGGCAAACAACTGAACTTGCTATGGAAAGGACAGTGTGGGAGGCTGGGGGAGCTGTGTCCTGCAGTTCCCAGGACCCCATCCTCTCAGAAGGTAGGGGAAGGGCGGGAGGATTGAGAAGGGACAAGCCACCTTGACCGTAGGGGAAGGAGGAATGTGGGCTGGGGGAAGATGCCCTCAACTCACCCCCTACACACACATGAGAGAGAGCCCCCACCCAGTTCCTTGGCCTAGGTCTCCCCTCCAGGCTGAGGGCCTCTCTACTTCCCCAGATGCCTGGGTGCAAAGAACGGCTTGGCTTGGCTCCTCCTCTGGAGGTTAAAATTTATAGTCATTCTAACTGCACTTTGGAAACCAAGCAAGGGGAGAAGACAAATGAAGAAAAACTAGACAGAGAGAAAAATACAAAAAAGAGAGAGCGAGCGATAGAGAGAGATGATATTAAGTTATTAACTGAGGCTGACCAGAGGGGAGGACCCCCCCTTTACCACCCCATGCACTTTGCGAGCTGCCCCTTCTTCCCCCACATCAGAGAGAAATGCCCCCACACCAGAGCCCCAAGGGTAGGGCTGCCGATCAGAGCTGTGAGTTAACACAACAGGGTCCTGGCCACCCCCCTTGCCATACCCCGCCCTCTGTGCCCCTTTGGCACCCCCCAACCCTAGTATGTCCTCTGCTTTCTGCCACTCGTGCCCGCTGAGTTCCATCTACCTCTCATGCTGGATGCCAGCTGGCCCCTCACCAGCCTGCCCTGCTGCCCACACAGCTCCCCTTTAAGTGCCCAGCCCTAGGGGCCTCTCCCCATCCACCTCCTCCTTCCACACCTTGGCACCCACCCAGGAAAAAACTGTGGCTCCAACTCCTACCCTCCTTATATCCTGCAGTATTAGCTAGAAACCGGATGCTGCTGCATTGGTTGGGTCGGGGGTAGGAGGGCTGTGCGTGAGCGTCTCCCAGAACCCTCCACCCCTTTAGCACTCTGTTTCCCTGTTTCCCATCTGTCTTCTGGGCTCTCTCTAACCTCTGCCCTCCTCCCCAGCTCCTACTCACTGCACTAACTCTGGGCGGGCAGGTACCAGAATGGGGGTGTTTAGATAAGTGACACTTAGTTGGGGCCCCAGGGGAGGGGTGGTCGGTGCTCCTTTTTCTTTAAAGCTCTTTTGGCCAGCTGCCCCTCTGCCCCGGGACCCCTTCCCCTCTTCTTTTCTCTAATTCAGGGACTTTGGCTTGAGCCCCTCTCGCCCTCCTGGTGAGGGTGCTCTGTTGGTCTGCACTTGGGTGAGCTGTCCTCCTCCCCCTCCCTGTGGCTGCCGCCCACTCCTCAGGGGAGAGAGGGAGAGAGGAGGTGGTCCTCCCATGGGAGCAGGAGGTGGGGTGGGACAGAGCAGACCAGAGGGTGCTGGGCTCAGGGCTGCATGTCGGCAGGGATGGATGGGTGGACACAGATGCCCCCGGAAGCCATGGGGATTGGGGCAGGGGGTGGGGGGAGGGGTGCCAGGGCTTCCTGCGCTTTGCACTATTGGGGCAAAAATGTCTTAAGCAGTGGGGAACCTGCCACCCCACCCTGACCCTCAGCCTGCCACAGCCCCCTACACACACACACACACACACACACACACACACACACACACGGACATGCACACACGGACATGGGAAGGCAATGCTATGCTGCCCGTCAGGGCACTGTCCTTCCCCAATCGTTCAGGTGTTCCAACAGGGGTGGAGGGCCTGGAGGAGCACCCGCTGTCACCTGTGCATGTGCCTGTCCCACCCTGCTGGGGCCTCGGGCTGCCCGCGCTGTCTTTGTCTCTATCCTCTCTCTC
|
ACACCTAGCACACAGACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGAGACAGGCTGCCCTACTAGCCATGTGACCTGGGGTAAGTTACCTCCATCCCCTGTGCCTCAGTGTTCCCATCTGGAGTGGGCTGGGGATAATGATGGGTGCTAACTCACAGGCATAATTTTTTTTTCTTTTTTGAGACAGATTTTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACGCGATCTGGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCATAGTGCTGGCATTATAGTCGTGAGCCACTGCGCCGGGCCTCACAGGCATAACTGTGAGGCTTAAATGGAATAGGGCATGCACATGGCCCAATACAAGGTCAGCCGTTCAGAGTCCATGGGGGCCTTGCGGGCCTCACGGCTCCCGTAGGACACTCTAGGGGAGACTCAAGGACGCGGGGAGGGGTATGCTGAGTGCTCCTGTGGCCCTGCCGCTCCACAGCTGCCTTGCGAAGACCAGATCATCCTCCTGAAGGGGTGCTGCATGGAGATCATGTCCCTGCGGGCGGCTGTCCGCTACGACCCTGAGAGCGACACCCTGACGCTGAGTGGGGAGATGGCTGTCAAGCGGGAGCAGCTCAAGAATGGCGGCCTGGGCGTAGTCTCCGACGCCATCTTTGAACTGGGCAAGTCACTCTCTGCCTTTAACCTGGATGACACGGAAGTGGCTCTGCTGCAGGCTGTGCTGCTAATGTCAACAGGTACCTGCTGATTAGTCGGGAGGGCTCAGAAGCTTCCAGGGGTCCCAGAGATTGGCTGGACCCTGGGCCTGTTGCTCAACTCCCTCCTGAATCTTCTTCTGGGCTACCTCTCTGTCACCTGGGCCATCCCCTATCCCCTGTTCCTTGCTCTGTCACACACTTCTCACTCGTTCCCCAGGCCCATCCCTTGCCTCCCCATCCCTGCTCTGTGCCTTTTCCTGTCTTTGTCTCCTTCCTTCTCGCTGCCCTGTCCCTCTGTCACTCACATTCCCCTTTGTTCCCCACTCCCCACTTTGTTCTCAGCCACCTTCCATCCCCTCATCCCTCCTCTGTCTCCCAGTCCCATCTCTTACCCCTCAGTCCCCTCCCTAACCCCATCTGCACCCCGCCTCTCTGACCACCAACCTCAGTCCTCCCCACTCCAAGGCTCCTCTCTCTCCCCCAGCCCCCGGCCTGTCCCTCTGTCCTCCTTGCATTGCCCCCTCCCCCCAGTACCCCCCTGCCCCTCTCCACTTCCCAGCTGCCTCCCTCTCCCTGTGCTTCTCCTGTCCACGTCTCTCAGGGGGAGCTTCTCCCCTCCCCTCCCCCAGCCTCTCTGCCTCTATCTCCCCTCTAGTCCTTTCTTCCCACGTCCCCACACCTCACCCTCCCCATCTCCAGGCCTTCGGCCAGCCCCTCGCCCCTCACGCCCCTCTTCCCTCACAGACCGCTCGGGCCTGCTGTGTGTGGACAAGATCGAGAAGAGTCAGGAGGCGTACCTGCTGGCGTTCGAGCACTACGTCAACCACCGCAAACACAACATTCCGCACTTCTGGCCCAAGCTGCTGATGAAGGTGACTGACCTCCGCATGATCGGGGCCTGCCACGCCAGCCGCTTCCTCCACATGAAAGTCGAGTGCCCCACCGAACTCTTCCGCCCACTCTTCCTCGAGGTCTTTGAGGATCAGGAAGTCTAAAGCCTCAGGCGGCCAGAGGGTGTGCGGAGCTGGTGGGGAGGAGCCTGGAGAGAAGGGGCAGAGCTGGGGGCTGAGGGAGACCCCCCCACACCCCTTCTCTCCTTCCTCTCGTCCTTGGATAGATTCAGCTCCCACACACACACCCGCACTGCCCAGGTCCCTCCTCAGACCTCCAGCCCTGGGACAGGGCAAACAACTGAACTTGCTATGGAAAGGACAGTGTGGGAGGCTGGGGGAGCTGTGTCCTGCAGTTCCCAGGACCCCATCCTCTCAGAAGGTAGGGGAAGGGCGGGAGGATTGAGAAGGGACAAGCCACCTTGACCGTAGGGGAAGGAGGAATGTGGGCTGGGGGAAGATGCCCTCAACTCACCCCCTACACACACATGAGAGAGAGCCCCCACCCAGTTCCTTGGCCTAGGTCTCCCCTCCAGGCTGAGGGCCTCTCTACTTCCCCAGATGCCTGGGTGCAAAGAACGGCTTGGCTTGGCTCCTCCTCTGGAGGTTAAAATTTATAGTCATTCTAACTGCACTTTGGAAACCAAGCAAGGGGAGAAGACAAATGAAGAAAAACTAGACAGAGAGAAAAATACAAAAAAGAGAGAGCGAGCGATAGAGAGAGATGATATTAAGTTATTAACTGAGGCTGACCAGAGGGGAGGACCCCCCCTTTACCACCCCATGCACTTTGCGAGCTGCCCCTTCTTCCCCCACATCAGAGAGAAATGCCCCCACACCAGAGCCCCAAGGGTAGGGCTGCCGATCAGAGCTGTGAGTTAACACAACAGGGTCCTGGCCACCCCCCTTGCCATACCCCGCCCTCTGTGCCCCTTTGGCACCCCCCAACCCTAGTATGTCCTCTGCTTTCTGCCACTCGTGCCCGCTGAGTTCCATCTACCTCTCATGCTGGATGCCAGCTGGCCCCTCACCAGCCTGCCCTGCTGCCCACACAGCTCCCCTTTAAGTGCCCAGCCCTAGGGGCCTCTCCCCATCCACCTCCTCCTTCCACACCTTGGCACCCACCCAGGAAAAAACTGTGGCTCCAACTCCTACCCTCCTTATATCCTGCAGTATTAGCTAGAAACCGGATGCTGCTGCATTGGTTGGGTCGGGGGTAGGAGGGCTGTGCGTGAGCGTCTCCCAGAACCCTCCACCCCTTTAGCACTCTGTTTCCCTGTTTCCCATCTGTCTTCTGGGCTCTCTCTAACCTCTGCCCTCCTCCCCAGCTCCTACTCACTGCACTAACTCTGGGCGGGCAGGTACCAGAATGGGGGTGTTTAGATAAGTGACACTTAGTTGGGGCCCCAGGGGAGGGGTGGTCGGTGCTCCTTTTTCTTTAAAGCTCTTTTGGCCAGCTGCCCCTCTGCCCCGGGACCCCTTCCCCTCTTCTTTTCTCTAATTCAGGGACTTTGGCTTGAGCCCCTCTCGCCCTCCTGGTGAGGGTGCTCTGTTGGTCTGCACTTGGGTGAGCTGTCCTCCTCCCCCTCCCTGTGGCTGCCGCCCACTCCTCAGGGGAGAGAGGGAGAGAGGAGGTGGTCCTCCCATGGGAGCAGGAGGTGGGGTGGGACAGAGCAGACCAGAGGGTGCTGGGCTCAGGGCTGCATGTCGGCAGGGATGGATGGGTGGACACAGATGCCCCCGGAAGCCATGGGGATTGGGGCAGGGGGTGGGGGGAGGGGTGCCAGGGCTTCCTGCGCTTTGCACTATTGGGGCAAAAATGTCTTAAGCAGTGGGGAACCTGCCACCCCACCCTGACCCTCAGCCTGCCACAGCCCCCTACACACACACACACACACACACACACACACACACACACACGGACATGCACACACGGACATGGGAAGGCAATGCTATGCTGCCCGTCAGGGCACTGTCCTTCCCCAATCGTTCAGGTGTTCCAACAGGGGTGGAGGGCCTGGAGGAGCACCCGCTGTCACCTGTGCATGTGCCTGTCCCACCCTGCTGGGGCCTCGGGCTGCCCGCGCTGTCTTTGTCTCTATCCTCTCTCTC
|
Task1_train_24232
|
Consider this mutation in THRA (thyroid hormone receptor alpha) on Chromosome 17. Is this a benign change or a disease-causing variant?
|
Pathogenic; Congenital nongoitrous hypothyroidism 6
|
GACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGAGACAGGCTGCCCTACTAGCCATGTGACCTGGGGTAAGTTACCTCCATCCCCTGTGCCTCAGTGTTCCCATCTGGAGTGGGCTGGGGATAATGATGGGTGCTAACTCACAGGCATAATTTTTTTTTCTTTTTTGAGACAGATTTTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACGCGATCTGGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCATAGTGCTGGCATTATAGTCGTGAGCCACTGCGCCGGGCCTCACAGGCATAACTGTGAGGCTTAAATGGAATAGGGCATGCACATGGCCCAATACAAGGTCAGCCGTTCAGAGTCCATGGGGGCCTTGCGGGCCTCACGGCTCCCGTAGGACACTCTAGGGGAGACTCAAGGACGCGGGGAGGGGTATGCTGAGTGCTCCTGTGGCCCTGCCGCTCCACAGCTGCCTTGCGAAGACCAGATCATCCTCCTGAAGGGGTGCTGCATGGAGATCATGTCCCTGCGGGCGGCTGTCCGCTACGACCCTGAGAGCGACACCCTGACGCTGAGTGGGGAGATGGCTGTCAAGCGGGAGCAGCTCAAGAATGGCGGCCTGGGCGTAGTCTCCGACGCCATCTTTGAACTGGGCAAGTCACTCTCTGCCTTTAACCTGGATGACACGGAAGTGGCTCTGCTGCAGGCTGTGCTGCTAATGTCAACAGGTACCTGCTGATTAGTCGGGAGGGCTCAGAAGCTTCCAGGGGTCCCAGAGATTGGCTGGACCCTGGGCCTGTTGCTCAACTCCCTCCTGAATCTTCTTCTGGGCTACCTCTCTGTCACCTGGGCCATCCCCTATCCCCTGTTCCTTGCTCTGTCACACACTTCTCACTCGTTCCCCAGGCCCATCCCTTGCCTCCCCATCCCTGCTCTGTGCCTTTTCCTGTCTTTGTCTCCTTCCTTCTCGCTGCCCTGTCCCTCTGTCACTCACATTCCCCTTTGTTCCCCACTCCCCACTTTGTTCTCAGCCACCTTCCATCCCCTCATCCCTCCTCTGTCTCCCAGTCCCATCTCTTACCCCTCAGTCCCCTCCCTAACCCCATCTGCACCCCGCCTCTCTGACCACCAACCTCAGTCCTCCCCACTCCAAGGCTCCTCTCTCTCCCCCAGCCCCCGGCCTGTCCCTCTGTCCTCCTTGCATTGCCCCCTCCCCCCAGTACCCCCCTGCCCCTCTCCACTTCCCAGCTGCCTCCCTCTCCCTGTGCTTCTCCTGTCCACGTCTCTCAGGGGGAGCTTCTCCCCTCCCCTCCCCCAGCCTCTCTGCCTCTATCTCCCCTCTAGTCCTTTCTTCCCACGTCCCCACACCTCACCCTCCCCATCTCCAGGCCTTCGGCCAGCCCCTCGCCCCTCACGCCCCTCTTCCCTCACAGACCGCTCGGGCCTGCTGTGTGTGGACAAGATCGAGAAGAGTCAGGAGGCGTACCTGCTGGCGTTCGAGCACTACGTCAACCACCGCAAACACAACATTCCGCACTTCTGGCCCAAGCTGCTGATGAAGGTGACTGACCTCCGCATGATCGGGGCCTGCCACGCCAGCCGCTTCCTCCACATGAAAGTCGAGTGCCCCACCGAACTCTTCCCCCCACTCTTCCTCGAGGTCTTTGAGGATCAGGAAGTCTAAAGCCTCAGGCGGCCAGAGGGTGTGCGGAGCTGGTGGGGAGGAGCCTGGAGAGAAGGGGCAGAGCTGGGGGCTGAGGGAGACCCCCCCACACCCCTTCTCTCCTTCCTCTCGTCCTTGGATAGATTCAGCTCCCACACACACACCCGCACTGCCCAGGTCCCTCCTCAGACCTCCAGCCCTGGGACAGGGCAAACAACTGAACTTGCTATGGAAAGGACAGTGTGGGAGGCTGGGGGAGCTGTGTCCTGCAGTTCCCAGGACCCCATCCTCTCAGAAGGTAGGGGAAGGGCGGGAGGATTGAGAAGGGACAAGCCACCTTGACCGTAGGGGAAGGAGGAATGTGGGCTGGGGGAAGATGCCCTCAACTCACCCCCTACACACACATGAGAGAGAGCCCCCACCCAGTTCCTTGGCCTAGGTCTCCCCTCCAGGCTGAGGGCCTCTCTACTTCCCCAGATGCCTGGGTGCAAAGAACGGCTTGGCTTGGCTCCTCCTCTGGAGGTTAAAATTTATAGTCATTCTAACTGCACTTTGGAAACCAAGCAAGGGGAGAAGACAAATGAAGAAAAACTAGACAGAGAGAAAAATACAAAAAAGAGAGAGCGAGCGATAGAGAGAGATGATATTAAGTTATTAACTGAGGCTGACCAGAGGGGAGGACCCCCCCTTTACCACCCCATGCACTTTGCGAGCTGCCCCTTCTTCCCCCACATCAGAGAGAAATGCCCCCACACCAGAGCCCCAAGGGTAGGGCTGCCGATCAGAGCTGTGAGTTAACACAACAGGGTCCTGGCCACCCCCCTTGCCATACCCCGCCCTCTGTGCCCCTTTGGCACCCCCCAACCCTAGTATGTCCTCTGCTTTCTGCCACTCGTGCCCGCTGAGTTCCATCTACCTCTCATGCTGGATGCCAGCTGGCCCCTCACCAGCCTGCCCTGCTGCCCACACAGCTCCCCTTTAAGTGCCCAGCCCTAGGGGCCTCTCCCCATCCACCTCCTCCTTCCACACCTTGGCACCCACCCAGGAAAAAACTGTGGCTCCAACTCCTACCCTCCTTATATCCTGCAGTATTAGCTAGAAACCGGATGCTGCTGCATTGGTTGGGTCGGGGGTAGGAGGGCTGTGCGTGAGCGTCTCCCAGAACCCTCCACCCCTTTAGCACTCTGTTTCCCTGTTTCCCATCTGTCTTCTGGGCTCTCTCTAACCTCTGCCCTCCTCCCCAGCTCCTACTCACTGCACTAACTCTGGGCGGGCAGGTACCAGAATGGGGGTGTTTAGATAAGTGACACTTAGTTGGGGCCCCAGGGGAGGGGTGGTCGGTGCTCCTTTTTCTTTAAAGCTCTTTTGGCCAGCTGCCCCTCTGCCCCGGGACCCCTTCCCCTCTTCTTTTCTCTAATTCAGGGACTTTGGCTTGAGCCCCTCTCGCCCTCCTGGTGAGGGTGCTCTGTTGGTCTGCACTTGGGTGAGCTGTCCTCCTCCCCCTCCCTGTGGCTGCCGCCCACTCCTCAGGGGAGAGAGGGAGAGAGGAGGTGGTCCTCCCATGGGAGCAGGAGGTGGGGTGGGACAGAGCAGACCAGAGGGTGCTGGGCTCAGGGCTGCATGTCGGCAGGGATGGATGGGTGGACACAGATGCCCCCGGAAGCCATGGGGATTGGGGCAGGGGGTGGGGGGAGGGGTGCCAGGGCTTCCTGCGCTTTGCACTATTGGGGCAAAAATGTCTTAAGCAGTGGGGAACCTGCCACCCCACCCTGACCCTCAGCCTGCCACAGCCCCCTACACACACACACACACACACACACACACACACACACACACGGACATGCACACACGGACATGGGAAGGCAATGCTATGCTGCCCGTCAGGGCACTGTCCTTCCCCAATCGTTCAGGTGTTCCAACAGGGGTGGAGGGCCTGGAGGAGCACCCGCTGTCACCTGTGCATGTGCCTGTCCCACCCTGCTGGGGCCTCGGGCTGCCCGCGCTGTCTTTGTCTCTATCCTCTCTCTCTCTCCTGGAGTACT
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GACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGAGACAGGCTGCCCTACTAGCCATGTGACCTGGGGTAAGTTACCTCCATCCCCTGTGCCTCAGTGTTCCCATCTGGAGTGGGCTGGGGATAATGATGGGTGCTAACTCACAGGCATAATTTTTTTTTCTTTTTTGAGACAGATTTTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACGCGATCTGGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCATAGTGCTGGCATTATAGTCGTGAGCCACTGCGCCGGGCCTCACAGGCATAACTGTGAGGCTTAAATGGAATAGGGCATGCACATGGCCCAATACAAGGTCAGCCGTTCAGAGTCCATGGGGGCCTTGCGGGCCTCACGGCTCCCGTAGGACACTCTAGGGGAGACTCAAGGACGCGGGGAGGGGTATGCTGAGTGCTCCTGTGGCCCTGCCGCTCCACAGCTGCCTTGCGAAGACCAGATCATCCTCCTGAAGGGGTGCTGCATGGAGATCATGTCCCTGCGGGCGGCTGTCCGCTACGACCCTGAGAGCGACACCCTGACGCTGAGTGGGGAGATGGCTGTCAAGCGGGAGCAGCTCAAGAATGGCGGCCTGGGCGTAGTCTCCGACGCCATCTTTGAACTGGGCAAGTCACTCTCTGCCTTTAACCTGGATGACACGGAAGTGGCTCTGCTGCAGGCTGTGCTGCTAATGTCAACAGGTACCTGCTGATTAGTCGGGAGGGCTCAGAAGCTTCCAGGGGTCCCAGAGATTGGCTGGACCCTGGGCCTGTTGCTCAACTCCCTCCTGAATCTTCTTCTGGGCTACCTCTCTGTCACCTGGGCCATCCCCTATCCCCTGTTCCTTGCTCTGTCACACACTTCTCACTCGTTCCCCAGGCCCATCCCTTGCCTCCCCATCCCTGCTCTGTGCCTTTTCCTGTCTTTGTCTCCTTCCTTCTCGCTGCCCTGTCCCTCTGTCACTCACATTCCCCTTTGTTCCCCACTCCCCACTTTGTTCTCAGCCACCTTCCATCCCCTCATCCCTCCTCTGTCTCCCAGTCCCATCTCTTACCCCTCAGTCCCCTCCCTAACCCCATCTGCACCCCGCCTCTCTGACCACCAACCTCAGTCCTCCCCACTCCAAGGCTCCTCTCTCTCCCCCAGCCCCCGGCCTGTCCCTCTGTCCTCCTTGCATTGCCCCCTCCCCCCAGTACCCCCCTGCCCCTCTCCACTTCCCAGCTGCCTCCCTCTCCCTGTGCTTCTCCTGTCCACGTCTCTCAGGGGGAGCTTCTCCCCTCCCCTCCCCCAGCCTCTCTGCCTCTATCTCCCCTCTAGTCCTTTCTTCCCACGTCCCCACACCTCACCCTCCCCATCTCCAGGCCTTCGGCCAGCCCCTCGCCCCTCACGCCCCTCTTCCCTCACAGACCGCTCGGGCCTGCTGTGTGTGGACAAGATCGAGAAGAGTCAGGAGGCGTACCTGCTGGCGTTCGAGCACTACGTCAACCACCGCAAACACAACATTCCGCACTTCTGGCCCAAGCTGCTGATGAAGGTGACTGACCTCCGCATGATCGGGGCCTGCCACGCCAGCCGCTTCCTCCACATGAAAGTCGAGTGCCCCACCGAACTCTTCCCCCCACTCTTCCTCAAGGTCTTTGAGGATCAGGAAGTCTAAAGCCTCAGGCGGCCAGAGGGTGTGCGGAGCTGGTGGGGAGGAGCCTGGAGAGAAGGGGCAGAGCTGGGGGCTGAGGGAGACCCCCCCACACCCCTTCTCTCCTTCCTCTCGTCCTTGGATAGATTCAGCTCCCACACACACACCCGCACTGCCCAGGTCCCTCCTCAGACCTCCAGCCCTGGGACAGGGCAAACAACTGAACTTGCTATGGAAAGGACAGTGTGGGAGGCTGGGGGAGCTGTGTCCTGCAGTTCCCAGGACCCCATCCTCTCAGAAGGTAGGGGAAGGGCGGGAGGATTGAGAAGGGACAAGCCACCTTGACCGTAGGGGAAGGAGGAATGTGGGCTGGGGGAAGATGCCCTCAACTCACCCCCTACACACACATGAGAGAGAGCCCCCACCCAGTTCCTTGGCCTAGGTCTCCCCTCCAGGCTGAGGGCCTCTCTACTTCCCCAGATGCCTGGGTGCAAAGAACGGCTTGGCTTGGCTCCTCCTCTGGAGGTTAAAATTTATAGTCATTCTAACTGCACTTTGGAAACCAAGCAAGGGGAGAAGACAAATGAAGAAAAACTAGACAGAGAGAAAAATACAAAAAAGAGAGAGCGAGCGATAGAGAGAGATGATATTAAGTTATTAACTGAGGCTGACCAGAGGGGAGGACCCCCCCTTTACCACCCCATGCACTTTGCGAGCTGCCCCTTCTTCCCCCACATCAGAGAGAAATGCCCCCACACCAGAGCCCCAAGGGTAGGGCTGCCGATCAGAGCTGTGAGTTAACACAACAGGGTCCTGGCCACCCCCCTTGCCATACCCCGCCCTCTGTGCCCCTTTGGCACCCCCCAACCCTAGTATGTCCTCTGCTTTCTGCCACTCGTGCCCGCTGAGTTCCATCTACCTCTCATGCTGGATGCCAGCTGGCCCCTCACCAGCCTGCCCTGCTGCCCACACAGCTCCCCTTTAAGTGCCCAGCCCTAGGGGCCTCTCCCCATCCACCTCCTCCTTCCACACCTTGGCACCCACCCAGGAAAAAACTGTGGCTCCAACTCCTACCCTCCTTATATCCTGCAGTATTAGCTAGAAACCGGATGCTGCTGCATTGGTTGGGTCGGGGGTAGGAGGGCTGTGCGTGAGCGTCTCCCAGAACCCTCCACCCCTTTAGCACTCTGTTTCCCTGTTTCCCATCTGTCTTCTGGGCTCTCTCTAACCTCTGCCCTCCTCCCCAGCTCCTACTCACTGCACTAACTCTGGGCGGGCAGGTACCAGAATGGGGGTGTTTAGATAAGTGACACTTAGTTGGGGCCCCAGGGGAGGGGTGGTCGGTGCTCCTTTTTCTTTAAAGCTCTTTTGGCCAGCTGCCCCTCTGCCCCGGGACCCCTTCCCCTCTTCTTTTCTCTAATTCAGGGACTTTGGCTTGAGCCCCTCTCGCCCTCCTGGTGAGGGTGCTCTGTTGGTCTGCACTTGGGTGAGCTGTCCTCCTCCCCCTCCCTGTGGCTGCCGCCCACTCCTCAGGGGAGAGAGGGAGAGAGGAGGTGGTCCTCCCATGGGAGCAGGAGGTGGGGTGGGACAGAGCAGACCAGAGGGTGCTGGGCTCAGGGCTGCATGTCGGCAGGGATGGATGGGTGGACACAGATGCCCCCGGAAGCCATGGGGATTGGGGCAGGGGGTGGGGGGAGGGGTGCCAGGGCTTCCTGCGCTTTGCACTATTGGGGCAAAAATGTCTTAAGCAGTGGGGAACCTGCCACCCCACCCTGACCCTCAGCCTGCCACAGCCCCCTACACACACACACACACACACACACACACACACACACACACGGACATGCACACACGGACATGGGAAGGCAATGCTATGCTGCCCGTCAGGGCACTGTCCTTCCCCAATCGTTCAGGTGTTCCAACAGGGGTGGAGGGCCTGGAGGAGCACCCGCTGTCACCTGTGCATGTGCCTGTCCCACCCTGCTGGGGCCTCGGGCTGCCCGCGCTGTCTTTGTCTCTATCCTCTCTCTCTCTCCTGGAGTACT
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Task1_train_24233
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Consider this mutation in CDC6 (cell division cycle 6) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Meier-Gorlin syndrome 5
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AAGAAAGAGGGCTAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTAAGGTCAGGAGTTTGAGACCACCCTGGTCAACATGGTGAAACCCTGTCTCTACTAATAATACAAAAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAACTCGGGAAGCAGAGGTTGCAGTGAGCTGAGATCGCGCTACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAGAAGGCTGGGCATGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTTAGGAGATTGAGACCATCCTGACTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGAGTGCCTGTAGTTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCACAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCATGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAGAGTTAAGAAAGAGTAGGCCTGGTGCGGTGGCTCACACCTGTAATTCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGCGAAACCCCATCTCTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTGCATCCTTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTCAACCCGGGAGGCAGAGGTTGCAATGAGTTGAGATTGTGGCATTGCATTTCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAGAAAAAAAAAAGAAAGAAAGAAAAGAAAGAGTAGAAGTTTAGAAGATTGAGGGTTTCTTCAAAATAAAACATTTGTAATTTCATTGTTTAAATCTTTCCAAATGAAAGTAGAGCTTCCTTACGTGCTGTTAGCTCTTCAAAGACATTTTAGGCTCTATCAGATCTTTATTTTCTGAGGCCAAAATAACTCCCATATTTGCATTTTTTTTTCCAGAAGGAACTGAAAGGCTTTAAAACTATCATGCTGAATTGCATGTCCTTGAGGACTGCCCAGGCTGTATTCCCAGCTATTGCTCAGGAGATTTGTCAGGAAGAGGTATCCAGGCCAGCTGGGAAGGACATGATGAGGAAATTGGAAAAACATATGACTGCAGAGAAGGGCCCCATGATGTAAGTATTGTTCTGCTTCATGTTGCTCTGTGAAAATCTGCAAGGTCTGTTGCCCATAAAAAGTACATTTTGTATATTTTCTCTCTGAAGGATAGTTACATAAACTTAAAGGGAAAGAAGAGAAGGAAGATACACCTAATTTTAAATTGGATTACTTATAGATGATGTGGGGTATCCTTGTAGCAGTAACTAGAGATAGGTTAGATTATGATCTTTAAACTGGTCTCAGCTTTAGGAAAGTGACCTGAAGTCAGCCTATATCAAACATTAGAGGGTTAAGAAGGTGAATATGGATACTAACTGTTTCTCTTTTTATAGTGTGTTGGTATTGGACGAGATGGATCAACTGGACAGCAAAGGCCAGGATGTATTGTACACGCTATTTGAATGGCCATGGCTAAGCAATTCTCACTTGGTGCTGATTGGTTAGTGCTCAATTGTTAATGTTACATGGTGGTTCTAAAGTATTTTTTAAGAATATATATTCAGCTTATTTATCAGCTATTTTATCTTAAACCAGCTTTCTGCCGTGTCAAAATAAGAAAGTTAAATGACTATGTACATCTTACCTAATAGATACATCTTATCTATTGGGATGGGGTAGGAGACAAGTGGCAAGCAACAATTAGAATGCTAGATTCTATAACTGGAGATTTATTTAGCTTTCAGAAGATTTAGTTTTCCCTTTAGGATAATTTGACCAATGATCAATGTTGTTGATCTCCTCCTTAGGTATTGCTAATACCCTGGATCTCACAGATAGAATTCTACCTAGGCTTCAAGCTAGAGAAAAATGTAAGCCACAGCTGTTGAACTTCCCACCTTATACCAGAAATCAGATAGTCACTATTTTGCAAGATCGACTTAATCAGGTCAGTGCCAACTATTTTGCCAAATTATGTGTTCCTTGGATCACCTGTGCTAGGAAAATTTAACAATAGTTCTAAAATATTTTTGCCTTGATTGCTTTATTAATGGAGCAAGGAGTTCCTATGGACCATAGTGAGAACATTTTTATGTGAATTTCAGCTTCATTCATTTACTGGGTGTCTCAGTGTTGAAATAAAAGCAGGAGTTAGAGGAATCACCCAAGCGCTTTTTTTTTTTTTTTTAGATGAGTTTTGCTCTTATCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCTCTACAGCCTCTGCCTCACGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTAGCTAGGACTACAGGCACCTGCCACCACGCCCAGCTAATTGTTGTATTTTTAGTAGAGCTGGGGTTTCACCGTCTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATATGCCTGTCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCATCGCACCCAGCCTCAAGTGCTTTCTTTAATGACCTTTAAAAAATAGGGCCTATGAAAAAACTTTTTCTGTTGAAAATGACTAAATAGATTTTTTATTTTTGCTAATTTCAGTTCTGATTGCTTTTTTCCATTTATGAACTTCTACTGCATCCGTACAAAAAGCTTAAATGTGTGAAAACTCTCAAACGTCTCCATTATTTATGAGAAGAAAAGGCATCTTTTTAACCCTAAAGAGTTGCCAATCAAGTTTAGGGTTAAATGTGAAAATATTTATGCTTGGGACCTAAATTACAGAGGGAGAATCTTATGGTTCAAACTGTCATCTTCTATGTCTTGTCTGAAGGTATCTAGAGATCAGGTTCTGGACAATGCTGCAGTTCAATTCTGTGCCCGCAAAGTCTCTGCTGTTTCAGGAGATGTTCGCAAAGCACTGGATGTTTGCAGGTGAGTTACGGCTCTGTTGCATTCTTTTATTAAAAAAAAAAAAAAAGAAATGCTGTTAATTGTCTCATGTAACTCAAGTGAATGTGGCTTAAGAGGCTCTGTTCTGCTACTTTTTTACGCTCAGAAAGGAGGACTTGTTTCTCAGTGGGGAGCTCTGGATTTCCACCGTGTTAATGTCTGAAACATTATCAGTCCATTACCTACAGAGGGAGAAACAAATGAGATGTTGCTGGCACTCCCTGTGGTGATTATAGATTGGTTAATTACATTTGTATTAAAAAAGACTCCAGTTTACTTTTCCATTAGCTGGTCTCAAGCAGGTTTATTTATGGACCTGAACCGTCTTTGCCTTTAGACTTGTTCCCCTTCCTTTCCTTTTGTGAGCACCCCTTCTTCCCTTCAGTTGGTGGTCCCCCACAGTTGTACTCCAGACCTCTTTCTCCCTTCCCATCCTCCTGCCCCTCCTGCTGGGGAAAGCCTCTGTGCCGACTGATGAAATTTCTTCCTTCCCAGTAGGGACACTGGGTCCATTAAAATGATACTTGCTGTGCTGGCCTGCTGGTCCAACCTCCCCCTATTGCTATGCAGAAGACCCAGGTCTGGCTTATGGCTTCCTGTGGGCAAGTACTTTGGAGAGAGCAGTGGGAGAGTAAGCTCTTCCTATTGCTAGATTGCATGATCCTGAATTTGAAAGTTTCCCCTAATCAGCAAACTACTTGGGTAAAGACTGCAACTATGAGCAATAGTCATGTAGGCTAGCGTGGTTTAGCCTACACATATCCTATGTATATATAACTGAAGATATCCCTTTTAGGTTTGGTGTGTATGGGTGATGCTGACTCCCTTTAGTCAGTCACCCACACTACATATCCTCTCTCCTACCCATGACATTTTCTCCTCATCCAAAATGTTATCATTGGCTTAATGTATGATGACCTACTTGGCATCCATTAGGAGGAAACCATTGAAGTTTCTCAAA
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AAGAAAGAGGGCTAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTAAGGTCAGGAGTTTGAGACCACCCTGGTCAACATGGTGAAACCCTGTCTCTACTAATAATACAAAAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAACTCGGGAAGCAGAGGTTGCAGTGAGCTGAGATCGCGCTACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAGAAGGCTGGGCATGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTTAGGAGATTGAGACCATCCTGACTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGAGTGCCTGTAGTTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCACAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCATGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAGAGTTAAGAAAGAGTAGGCCTGGTGCGGTGGCTCACACCTGTAATTCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGCGAAACCCCATCTCTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTGCATCCTTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTCAACCCGGGAGGCAGAGGTTGCAATGAGTTGAGATTGTGGCATTGCATTTCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAGAAAAAAAAAAGAAAGAAAGAAAAGAAAGAGTAGAAGTTTAGAAGATTGAGGGTTTCTTCAAAATAAAACATTTGTAATTTCATTGTTTAAATCTTTCCAAATGAAAGTAGAGCTTCCTTACGTGCTGTTAGCTCTTCAAAGACATTTTAGGCTCTATCAGATCTTTATTTTCTGAGGCCAAAATAACTCCCATATTTGCATTTTTTTTTCCAGAAGGAACTGAAAGGCTTTAAAACTATCATGCTGAATTGCATGTCCTTGAGGACTGCCCAGGCTGTATTCCCAGCTATTGCTCAGGAGATTTGTCAGGAAGAGGTATCCAGGCCAGCTGGGAAGGACATGATGAGGAAATTGGAAAAACATATGACTGCAGAGAAGGGCCCCATGATGTAAGTATTGTTCTGCTTCATGTTGCTCTGTGAAAATCTGCAAGGTCTGTTGCCCATAAAAAGTACATTTTGTATATTTTCTCTCTGAAGGATAGTTACATAAACTTAAAGGGAAAGAAGAGAAGGAAGATACACCTAATTTTAAATTGGATTACTTATAGATGATGTGGGGTATCCTTGTAGCAGTAACTAGAGATAGGTTAGATTATGATCTTTAAACTGGTCTCAGCTTTAGGAAAGTGACCTGAAGTCAGCCTATATCAAACATTAGAGGGTTAAGAAGGTGAATATGGATACTAACTGTTTCTCTTTTTATAGTGTGTTGGTATTGGACGAGATGGATCAACTGGACAGCAAAGGCCAGGATGTATTGTACACGCTATTTGAATGGCCATGGCTAAGCAATTCTCACTTGGTGCTGATTGGTTAGTGCTCAATTGTTAATGTTACATGGTGGTTCTAAAGTATTTTTTAAGAATATATATTCAGCTTATTTATCAGCTATTTTATCTTAAACCAGCTTTCTGCCGTGTCAAAATAAGAAAGTTAAATGACTATGTACATCTTACCTAATAGATACATCTTATCTATTGGGATGGGGTAGGAGACAAGTGGCAAGCAACAATTAGAATGCTAGATTCTATAACTGGAGATTTATTTAGCTTTCAGAAGATTTAGTTTTCCCTTTAGGATAATTTGACCAATGATCAATGTTGTTGATCTCCTCCTTAGGTATTGCTAATACCCTGGATCTCAGAGATAGAATTCTACCTAGGCTTCAAGCTAGAGAAAAATGTAAGCCACAGCTGTTGAACTTCCCACCTTATACCAGAAATCAGATAGTCACTATTTTGCAAGATCGACTTAATCAGGTCAGTGCCAACTATTTTGCCAAATTATGTGTTCCTTGGATCACCTGTGCTAGGAAAATTTAACAATAGTTCTAAAATATTTTTGCCTTGATTGCTTTATTAATGGAGCAAGGAGTTCCTATGGACCATAGTGAGAACATTTTTATGTGAATTTCAGCTTCATTCATTTACTGGGTGTCTCAGTGTTGAAATAAAAGCAGGAGTTAGAGGAATCACCCAAGCGCTTTTTTTTTTTTTTTTAGATGAGTTTTGCTCTTATCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCTCTACAGCCTCTGCCTCACGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTAGCTAGGACTACAGGCACCTGCCACCACGCCCAGCTAATTGTTGTATTTTTAGTAGAGCTGGGGTTTCACCGTCTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATATGCCTGTCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCATCGCACCCAGCCTCAAGTGCTTTCTTTAATGACCTTTAAAAAATAGGGCCTATGAAAAAACTTTTTCTGTTGAAAATGACTAAATAGATTTTTTATTTTTGCTAATTTCAGTTCTGATTGCTTTTTTCCATTTATGAACTTCTACTGCATCCGTACAAAAAGCTTAAATGTGTGAAAACTCTCAAACGTCTCCATTATTTATGAGAAGAAAAGGCATCTTTTTAACCCTAAAGAGTTGCCAATCAAGTTTAGGGTTAAATGTGAAAATATTTATGCTTGGGACCTAAATTACAGAGGGAGAATCTTATGGTTCAAACTGTCATCTTCTATGTCTTGTCTGAAGGTATCTAGAGATCAGGTTCTGGACAATGCTGCAGTTCAATTCTGTGCCCGCAAAGTCTCTGCTGTTTCAGGAGATGTTCGCAAAGCACTGGATGTTTGCAGGTGAGTTACGGCTCTGTTGCATTCTTTTATTAAAAAAAAAAAAAAAGAAATGCTGTTAATTGTCTCATGTAACTCAAGTGAATGTGGCTTAAGAGGCTCTGTTCTGCTACTTTTTTACGCTCAGAAAGGAGGACTTGTTTCTCAGTGGGGAGCTCTGGATTTCCACCGTGTTAATGTCTGAAACATTATCAGTCCATTACCTACAGAGGGAGAAACAAATGAGATGTTGCTGGCACTCCCTGTGGTGATTATAGATTGGTTAATTACATTTGTATTAAAAAAGACTCCAGTTTACTTTTCCATTAGCTGGTCTCAAGCAGGTTTATTTATGGACCTGAACCGTCTTTGCCTTTAGACTTGTTCCCCTTCCTTTCCTTTTGTGAGCACCCCTTCTTCCCTTCAGTTGGTGGTCCCCCACAGTTGTACTCCAGACCTCTTTCTCCCTTCCCATCCTCCTGCCCCTCCTGCTGGGGAAAGCCTCTGTGCCGACTGATGAAATTTCTTCCTTCCCAGTAGGGACACTGGGTCCATTAAAATGATACTTGCTGTGCTGGCCTGCTGGTCCAACCTCCCCCTATTGCTATGCAGAAGACCCAGGTCTGGCTTATGGCTTCCTGTGGGCAAGTACTTTGGAGAGAGCAGTGGGAGAGTAAGCTCTTCCTATTGCTAGATTGCATGATCCTGAATTTGAAAGTTTCCCCTAATCAGCAAACTACTTGGGTAAAGACTGCAACTATGAGCAATAGTCATGTAGGCTAGCGTGGTTTAGCCTACACATATCCTATGTATATATAACTGAAGATATCCCTTTTAGGTTTGGTGTGTATGGGTGATGCTGACTCCCTTTAGTCAGTCACCCACACTACATATCCTCTCTCCTACCCATGACATTTTCTCCTCATCCAAAATGTTATCATTGGCTTAATGTATGATGACCTACTTGGCATCCATTAGGAGGAAACCATTGAAGTTTCTCAAA
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Task1_train_24234
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Given this context: Chromosome 17, gene SMARCE1 (SWI/SNF related BAF chromatin remodeling complex subunit E1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Tessier cleft
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TACAGGCGTGAGCCATGGCGCCTGGCAATGTCTATCTTTTGATAGTCCTCTGTTAAAGAAGTCAGTAGCTGTTGTACTTCATGCAGATGCCACCTTTCTGTTATGTACATTTGACATACATTTCCACCTCCCAAGTATTCCTCTTTCTAATCATTTTCGTACTGGTATGCTAAAGACATTCTCATATTGGCATCTTAATTGCTACCTGAATTTACTAGCAACTTTAAGACCCAATCTGAAAGTTAAAAACATCATAGGCCCAAGTTTCAGACTGTTTCTGAGTGAATCTCTTTAGTCCTTCTCAGTGTTCATGGTGTTAATGAAAGCTTTAGTTATTTTCTACTTACGTTGCTAGCCTTTGTTTCCTCTTGTACTGACCTCCATCCTCCCAATATCTGTAGACTGGATTGTCTTCTGATTTTTAGTTCTGTATGTTTCTCTTGCATTAATCACCCCATTTGAGTAATTAAAGTGTGAGGATGCTAGTGTGTCTTTAGCACTGCTGATTCTGCTTAACATTCAATACTGTTTCTATTCCATATTCTATTCTCTATAGTATTACATTCCACTGTCTGTATTTATGAGAACATTTGACAATATTCCAGTACATTATTTTTAAAAATGACTTCTGTTTTTCCCCACTTTTATCAACTTATTCTTGTCTTCAGGTACTATTATTGCTTCCTCCCTCATTGATATTGTCTTTAAAGTTCTTATAGCCTTCCTCTTTGTTACTGCTACTTTAAGATGGGATCTTAAATCATTTTCCTGATGTTCTTGTCGCTTGCAGCTAAAGCTTCTAACCTTTTGCACATCATAGCAGTATACAGAGAAACTATTAATGTTTATACAGCACACTAGATATGTGGTTGAGTGTGTTCACACTGCAGGTGGCTATCTCTGGGTCTCCTCGCAGCTTCAGACCCTGCCTGGCTGCACAAGACCAGAACAATCAGAACACCTGCTAACTACTCATACAGAATGGCAATTAGGAAGCTCTGCCATTCGTGTGCATGTATACAATTTGTATGGGTATACCCTCATGTACACCCATACAAATAGTAGCATGAGCTATATTTATACATTCTTATTGGATTTCTGAATTAAATGGAAAGGAAACTTCATGTTTCCACATACTCATTAGCTTCTCCCTTAAGAGCCTTTAATTCAGCGAATTTAGTGAACCAATAAGAAAACAAGATATAATTAGAATGCATTTAGCTTTTTAAAAGCAGATGAGGCAAAATCCTGATTGTGATTTAAAAACCTTTCGTGCATTTTGAGTACAAAGATTTTGATAAACAATCAATAATTTTTGCTATTTTCTGCACTGAAAAGGATATTTCTTTTTCTTGTGGGAAATTCACATACAAATCTTACTCAATATAACCAAAATACTAAGACGATACTTAAATTATACTTTCTTTTCCATTTAGGATAAGAAATAAAAACTTATACTTAAGAGATTTCTCATATCTTAACTCACAGAGAAAGCATAAACAAAACCCCACTTTTTTTCTTTTACCATCTGGATCTTCAGCAGGCTGAATGCTCATGTACGGTTCTCCTTTCTCCATGCGAGATTGTCTCTGTCGACTTTCTTCCTCTAAAGCAGCTTCTGCACGACTTTTTGCATTTATGTAAGCAAGGTACGCGGGGGAATTATGATAGGCCTTCATAGATTCATTGTACTCTATCTGAAATTCAAATGTTTTTTGGTTTTATAATTAACATTTTGCAGGTTATAATGCAGACCTATGTTATCTCACTTGAATATCAAAAGATATGATGTAAACAGGGTGTTGGGATAATTATCTCCTTTTTACAGGCAAGAAATCTGAGGCCTTGAGAAACTGACTTGACTCAGGTAGACAGAGCCTCAGTACTGCATCAGTGTTCTGACCAAATCTTATGTTACTTTTATAAATAGTAAGCCAATGTTTTATGTACTTTACACATTATCTATCCCACTGTGAGCCCCTACCCTACCTTTTCTGCTTCGTATTCGTTTAAATATTCTTGTTTTTCTTCATCAGTGAGATCTCGCCACATGCCACCAATAATCTTGCCAATCTCCCACAACTTTAGGTCAGGGTTGGAAGCCTTTACTTGGTCCCAGACCTTAAAAAGAAAACAGATGAAATGTTAATACTGATGTCTAAACGTATAGACCTTTAAAAATAGTTTTTAATGTGGAAACTTTTCAACATACAAAGCAGAGAAAACAGTATCAAATTTCTAGGTACTCATCAGCCTACTTCAAAAATTATCAAGAACTGGCCAATCTCAAGTTATCTTTGCCCTACTGGATTACTTTAAGATAGATCTCAGACATCACGTCACTCACTTATAAATACTTCAATTTGATAAGCAAGAATATCTCCAATCACTACAGACACTTAGGATGAGTTACTTCAATAACATAGTCTACGTCTCTAAAAGTTCATGTGAATTTAGAAGAAAAGTGCTTAATTTGCATAACACGGTACATCATATTATCAAATACAAATATAATAGTCAAGATCAAAAGGTTTAACATTTCTAGATAGTGGTTATAATGCTCTGCCTTTTAATAAAGATATTGGCTACTTTTTTTATTTTAAGAGTAATGTAGGCTCATCACCAAAAAAAAAAAAAAAAAAAGGAAAACTTGAGGAAAAGAAAATAAAAACTACCATAAGCTTACTGCTTAGAGATAATTATTGTCTTCTGTGTTTTCCCCCTTCAAACTAACATGTGGTTGCTATTATTTTTATAAAAATGAGATATTAATTCATGTAGTCTTGCAGTCCTCCTTCACTTAACATTTTCCTCACGTCATTAAATATTCTCCAAAAGAAATGACTTTAATGGCTATAGAACATTCTATCTTAAGGATTTTAACAGTTTATTTAATCACGCTCCTCTTGTTGGATTTTAGTTCTGGAATTTTGAAATCAGAACTAATTGCTTTAAAAACCGTATTTTTTTGGACCTTTCCTCTGAATATGCACAGAAAAGCTGGCTAAGCCGATCTAAAGTTGGATGTTAAGCAAAGAAGCAGCAAAGACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGTAGGGCATCAGCGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATCGTGATACCAGAGGATGCCTACGAAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGGCAAACTGAAAAGAGAGTCCCTTAAAAAATTCTAATGCGCCTTTCTTCTATTCGTCCAAATATTTTCTTCACTGAAAATAGCTATCACTGCAAATTCAGAAATGTTCAAAAGAAAATGACTTTAAGCACATAATTTTTAAATGTTTTACTTAGCAGTTTATTGCCAATGCTTTGACAACCTGGCTGCAAGAACAAATAAAATATTACACAGTAACCCATACATTGAAAATATATGGTTATATATCAACCGTCTCAAGTTCAGGACATTACCTGGTACCCTCTTATTCTGCTCAATTACCATTACACATACAGTCAACACTTGATTATCTGCAGCAGGATCTGAACCCTTAACACTTACCATTCTCACACTGTCTACAGGGGCCTTAACCTATTAGCACTAGGAATGTACTCCCAACACCACCACAAAAACAACTTCCCAGGTTCAAAAACAAAAACAATTAGTGAAATAACAAACCACCTTACCTCCTTTGCCAGGCTAGAGATTTTATTTCTCTTAAGGTTCTGTCTGTTACCTAGTGGTTTTCTTGTAAAGGGGAATGAGAAGTGTGAATTAAAAGTCACACATTGTTTTGTCCTGAGTCCTAATCACAGTGTAAAAGCAAACAAGTTTATCAGGAACAGAGAAGTGGCAGATATCGGGCCTGATTACGTTATTTTTGAGGTCTTATATCAAGAAGCTCCATTCCATTAAAAATGTTCAGTTTTATGGGAAAGACAGAGGAAAAGGAAAGATGTGATGTACAGGAAAAGAGAGACAGAAGAAAAGGAGGCGGAGGGAAGACTGAAAAATATTTTTTAAAAAGGTAAAGCAAAAATAGGTGAAAGAAAAAATAAAAAAAGAAGGAAAGAGAAAGATAAA
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TACAGGCGTGAGCCATGGCGCCTGGCAATGTCTATCTTTTGATAGTCCTCTGTTAAAGAAGTCAGTAGCTGTTGTACTTCATGCAGATGCCACCTTTCTGTTATGTACATTTGACATACATTTCCACCTCCCAAGTATTCCTCTTTCTAATCATTTTCGTACTGGTATGCTAAAGACATTCTCATATTGGCATCTTAATTGCTACCTGAATTTACTAGCAACTTTAAGACCCAATCTGAAAGTTAAAAACATCATAGGCCCAAGTTTCAGACTGTTTCTGAGTGAATCTCTTTAGTCCTTCTCAGTGTTCATGGTGTTAATGAAAGCTTTAGTTATTTTCTACTTACGTTGCTAGCCTTTGTTTCCTCTTGTACTGACCTCCATCCTCCCAATATCTGTAGACTGGATTGTCTTCTGATTTTTAGTTCTGTATGTTTCTCTTGCATTAATCACCCCATTTGAGTAATTAAAGTGTGAGGATGCTAGTGTGTCTTTAGCACTGCTGATTCTGCTTAACATTCAATACTGTTTCTATTCCATATTCTATTCTCTATAGTATTACATTCCACTGTCTGTATTTATGAGAACATTTGACAATATTCCAGTACATTATTTTTAAAAATGACTTCTGTTTTTCCCCACTTTTATCAACTTATTCTTGTCTTCAGGTACTATTATTGCTTCCTCCCTCATTGATATTGTCTTTAAAGTTCTTATAGCCTTCCTCTTTGTTACTGCTACTTTAAGATGGGATCTTAAATCATTTTCCTGATGTTCTTGTCGCTTGCAGCTAAAGCTTCTAACCTTTTGCACATCATAGCAGTATACAGAGAAACTATTAATGTTTATACAGCACACTAGATATGTGGTTGAGTGTGTTCACACTGCAGGTGGCTATCTCTGGGTCTCCTCGCAGCTTCAGACCCTGCCTGGCTGCACAAGACCAGAACAATCAGAACACCTGCTAACTACTCATACAGAATGGCAATTAGGAAGCTCTGCCATTCGTGTGCATGTATACAATTTGTATGGGTATACCCTCATGTACACCCATACAAATAGTAGCATGAGCTATATTTATACATTCTTATTGGATTTCTGAATTAAATGGAAAGGAAACTTCATGTTTCCACATACTCATTAGCTTCTCCCTTAAGAGCCTTTAATTCAGCGAATTTAGTGAACCAATAAGAAAACAAGATATAATTAGAATGCATTTAGCTTTTTAAAAGCAGATGAGGCAAAATCCTGATTGTGATTTAAAAACCTTTCGTGCATTTTGAGTACAAAGATTTTGATAAACAATCAATAATTTTTGCTATTTTCTGCACTGAAAAGGATATTTCTTTTTCTTGTGGGAAATTCACATACAAATCTTACTCAATATAACCAAAATACTAAGACGATACTTAAATTATACTTTCTTTTCCATTTAGGATAAGAAATAAAAACTTATACTTAAGAGATTTCTCATATCTTAACTCACAGAGAAAGCATAAACAAAACCCCACTTTTTTTCTTTTACCATCTGGATCTTCAGCAGGCTGAATGCTCATGTACGGTTCTCCTTTCTCCATGCGAGATTGTCTCTGTCGACTTTCTTCCTCTAAAGCAGCTTCTGCACGACTTTTTGCATTTATGTAAGCAAGGTACGCGGGGGAATTATGATAGGCCTTCATAGATTCATTGTACTCTATCTGAAATTCAAATGTTTTTTGGTTTTATAATTAACATTTTGCAGGTTATAATGCAGACCTATGTTATCTCACTTGAATATCAAAAGATATGATGTAAACAGGGTGTTGGGATAATTATCTCCTTTTTACAGGCAAGAAATCTGAGGCCTTGAGAAACTGACTTGACTCAGGTAGACAGAGCCTCAGTACTGCATCAGTGTTCTGACCAAATCTTATGTTACTTTTATAAATAGTAAGCCAATGTTTTATGTACTTTACACATTATCTATCCCACTGTGAGCCCCTACCCTACCTTTTCTGCTTCGTATTCGTTTAAATATTCTTGTTTTTCTTCATCAGTGAGATCTCGCCGCATGCCACCAATAATCTTGCCAATCTCCCACAACTTTAGGTCAGGGTTGGAAGCCTTTACTTGGTCCCAGACCTTAAAAAGAAAACAGATGAAATGTTAATACTGATGTCTAAACGTATAGACCTTTAAAAATAGTTTTTAATGTGGAAACTTTTCAACATACAAAGCAGAGAAAACAGTATCAAATTTCTAGGTACTCATCAGCCTACTTCAAAAATTATCAAGAACTGGCCAATCTCAAGTTATCTTTGCCCTACTGGATTACTTTAAGATAGATCTCAGACATCACGTCACTCACTTATAAATACTTCAATTTGATAAGCAAGAATATCTCCAATCACTACAGACACTTAGGATGAGTTACTTCAATAACATAGTCTACGTCTCTAAAAGTTCATGTGAATTTAGAAGAAAAGTGCTTAATTTGCATAACACGGTACATCATATTATCAAATACAAATATAATAGTCAAGATCAAAAGGTTTAACATTTCTAGATAGTGGTTATAATGCTCTGCCTTTTAATAAAGATATTGGCTACTTTTTTTATTTTAAGAGTAATGTAGGCTCATCACCAAAAAAAAAAAAAAAAAAAGGAAAACTTGAGGAAAAGAAAATAAAAACTACCATAAGCTTACTGCTTAGAGATAATTATTGTCTTCTGTGTTTTCCCCCTTCAAACTAACATGTGGTTGCTATTATTTTTATAAAAATGAGATATTAATTCATGTAGTCTTGCAGTCCTCCTTCACTTAACATTTTCCTCACGTCATTAAATATTCTCCAAAAGAAATGACTTTAATGGCTATAGAACATTCTATCTTAAGGATTTTAACAGTTTATTTAATCACGCTCCTCTTGTTGGATTTTAGTTCTGGAATTTTGAAATCAGAACTAATTGCTTTAAAAACCGTATTTTTTTGGACCTTTCCTCTGAATATGCACAGAAAAGCTGGCTAAGCCGATCTAAAGTTGGATGTTAAGCAAAGAAGCAGCAAAGACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGTAGGGCATCAGCGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATCGTGATACCAGAGGATGCCTACGAAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGGCAAACTGAAAAGAGAGTCCCTTAAAAAATTCTAATGCGCCTTTCTTCTATTCGTCCAAATATTTTCTTCACTGAAAATAGCTATCACTGCAAATTCAGAAATGTTCAAAAGAAAATGACTTTAAGCACATAATTTTTAAATGTTTTACTTAGCAGTTTATTGCCAATGCTTTGACAACCTGGCTGCAAGAACAAATAAAATATTACACAGTAACCCATACATTGAAAATATATGGTTATATATCAACCGTCTCAAGTTCAGGACATTACCTGGTACCCTCTTATTCTGCTCAATTACCATTACACATACAGTCAACACTTGATTATCTGCAGCAGGATCTGAACCCTTAACACTTACCATTCTCACACTGTCTACAGGGGCCTTAACCTATTAGCACTAGGAATGTACTCCCAACACCACCACAAAAACAACTTCCCAGGTTCAAAAACAAAAACAATTAGTGAAATAACAAACCACCTTACCTCCTTTGCCAGGCTAGAGATTTTATTTCTCTTAAGGTTCTGTCTGTTACCTAGTGGTTTTCTTGTAAAGGGGAATGAGAAGTGTGAATTAAAAGTCACACATTGTTTTGTCCTGAGTCCTAATCACAGTGTAAAAGCAAACAAGTTTATCAGGAACAGAGAAGTGGCAGATATCGGGCCTGATTACGTTATTTTTGAGGTCTTATATCAAGAAGCTCCATTCCATTAAAAATGTTCAGTTTTATGGGAAAGACAGAGGAAAAGGAAAGATGTGATGTACAGGAAAAGAGAGACAGAAGAAAAGGAGGCGGAGGGAAGACTGAAAAATATTTTTTAAAAAGGTAAAGCAAAAATAGGTGAAAGAAAAAATAAAAAAAGAAGGAAAGAGAAAGATAAA
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Task1_train_24235
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This mutation is located in gene SMARCE1 (SWI/SNF related BAF chromatin remodeling complex subunit E1) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Coffin-Siris syndrome 5
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AATAGTAGCATGAGCTATATTTATACATTCTTATTGGATTTCTGAATTAAATGGAAAGGAAACTTCATGTTTCCACATACTCATTAGCTTCTCCCTTAAGAGCCTTTAATTCAGCGAATTTAGTGAACCAATAAGAAAACAAGATATAATTAGAATGCATTTAGCTTTTTAAAAGCAGATGAGGCAAAATCCTGATTGTGATTTAAAAACCTTTCGTGCATTTTGAGTACAAAGATTTTGATAAACAATCAATAATTTTTGCTATTTTCTGCACTGAAAAGGATATTTCTTTTTCTTGTGGGAAATTCACATACAAATCTTACTCAATATAACCAAAATACTAAGACGATACTTAAATTATACTTTCTTTTCCATTTAGGATAAGAAATAAAAACTTATACTTAAGAGATTTCTCATATCTTAACTCACAGAGAAAGCATAAACAAAACCCCACTTTTTTTCTTTTACCATCTGGATCTTCAGCAGGCTGAATGCTCATGTACGGTTCTCCTTTCTCCATGCGAGATTGTCTCTGTCGACTTTCTTCCTCTAAAGCAGCTTCTGCACGACTTTTTGCATTTATGTAAGCAAGGTACGCGGGGGAATTATGATAGGCCTTCATAGATTCATTGTACTCTATCTGAAATTCAAATGTTTTTTGGTTTTATAATTAACATTTTGCAGGTTATAATGCAGACCTATGTTATCTCACTTGAATATCAAAAGATATGATGTAAACAGGGTGTTGGGATAATTATCTCCTTTTTACAGGCAAGAAATCTGAGGCCTTGAGAAACTGACTTGACTCAGGTAGACAGAGCCTCAGTACTGCATCAGTGTTCTGACCAAATCTTATGTTACTTTTATAAATAGTAAGCCAATGTTTTATGTACTTTACACATTATCTATCCCACTGTGAGCCCCTACCCTACCTTTTCTGCTTCGTATTCGTTTAAATATTCTTGTTTTTCTTCATCAGTGAGATCTCGCCACATGCCACCAATAATCTTGCCAATCTCCCACAACTTTAGGTCAGGGTTGGAAGCCTTTACTTGGTCCCAGACCTTAAAAAGAAAACAGATGAAATGTTAATACTGATGTCTAAACGTATAGACCTTTAAAAATAGTTTTTAATGTGGAAACTTTTCAACATACAAAGCAGAGAAAACAGTATCAAATTTCTAGGTACTCATCAGCCTACTTCAAAAATTATCAAGAACTGGCCAATCTCAAGTTATCTTTGCCCTACTGGATTACTTTAAGATAGATCTCAGACATCACGTCACTCACTTATAAATACTTCAATTTGATAAGCAAGAATATCTCCAATCACTACAGACACTTAGGATGAGTTACTTCAATAACATAGTCTACGTCTCTAAAAGTTCATGTGAATTTAGAAGAAAAGTGCTTAATTTGCATAACACGGTACATCATATTATCAAATACAAATATAATAGTCAAGATCAAAAGGTTTAACATTTCTAGATAGTGGTTATAATGCTCTGCCTTTTAATAAAGATATTGGCTACTTTTTTTATTTTAAGAGTAATGTAGGCTCATCACCAAAAAAAAAAAAAAAAAAAGGAAAACTTGAGGAAAAGAAAATAAAAACTACCATAAGCTTACTGCTTAGAGATAATTATTGTCTTCTGTGTTTTCCCCCTTCAAACTAACATGTGGTTGCTATTATTTTTATAAAAATGAGATATTAATTCATGTAGTCTTGCAGTCCTCCTTCACTTAACATTTTCCTCACGTCATTAAATATTCTCCAAAAGAAATGACTTTAATGGCTATAGAACATTCTATCTTAAGGATTTTAACAGTTTATTTAATCACGCTCCTCTTGTTGGATTTTAGTTCTGGAATTTTGAAATCAGAACTAATTGCTTTAAAAACCGTATTTTTTTGGACCTTTCCTCTGAATATGCACAGAAAAGCTGGCTAAGCCGATCTAAAGTTGGATGTTAAGCAAAGAAGCAGCAAAGACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGTAGGGCATCAGCGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATCGTGATACCAGAGGATGCCTACGAAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGGCAAACTGAAAAGAGAGTCCCTTAAAAAATTCTAATGCGCCTTTCTTCTATTCGTCCAAATATTTTCTTCACTGAAAATAGCTATCACTGCAAATTCAGAAATGTTCAAAAGAAAATGACTTTAAGCACATAATTTTTAAATGTTTTACTTAGCAGTTTATTGCCAATGCTTTGACAACCTGGCTGCAAGAACAAATAAAATATTACACAGTAACCCATACATTGAAAATATATGGTTATATATCAACCGTCTCAAGTTCAGGACATTACCTGGTACCCTCTTATTCTGCTCAATTACCATTACACATACAGTCAACACTTGATTATCTGCAGCAGGATCTGAACCCTTAACACTTACCATTCTCACACTGTCTACAGGGGCCTTAACCTATTAGCACTAGGAATGTACTCCCAACACCACCACAAAAACAACTTCCCAGGTTCAAAAACAAAAACAATTAGTGAAATAACAAACCACCTTACCTCCTTTGCCAGGCTAGAGATTTTATTTCTCTTAAGGTTCTGTCTGTTACCTAGTGGTTTTCTTGTAAAGGGGAATGAGAAGTGTGAATTAAAAGTCACACATTGTTTTGTCCTGAGTCCTAATCACAGTGTAAAAGCAAACAAGTTTATCAGGAACAGAGAAGTGGCAGATATCGGGCCTGATTACGTTATTTTTGAGGTCTTATATCAAGAAGCTCCATTCCATTAAAAATGTTCAGTTTTATGGGAAAGACAGAGGAAAAGGAAAGATGTGATGTACAGGAAAAGAGAGACAGAAGAAAAGGAGGCGGAGGGAAGACTGAAAAATATTTTTTAAAAAGGTAAAGCAAAAATAGGTGAAAGAAAAAATAAAAAAAGAAGGAAAGAGAAAGATAAAGTGATCAGTTTTTCCTGTGGCTTAAAGTCTAGGTGAGATTCCAGACAGCCTCTGGTAGACCACCCAGATAACACCCATCTAAAAGTATCTATTTCTGAACTTTTTAGTCTCCTGTTAATATACATGACTGCATTTGATTAAAGACCCAGAATAAGAAAAATCATTGCTATTTCAGACAATTTGCAAATTTTCAGGAGATCTCTGATATTGACTCTCCCTGCTAGGCTGGAGAAATGAAGTGTTGGCTTTATTTTAATTATCGAAAGACAGGATTGGCAAATCCTTATAGGAAAACTAAAGTAACATTTTGTTCGCTTCCCCTTCTGTTGTTGCTATGATAAAACCCCAGAGATACTCCTCCACTCTGGGCTGGGACCCCAATCATAACCTTATTTTTCATTTGAGGGCTCAGGGATTAGCATGTTTGTGTCCTTTTCCACTATGATCAAGAAATGTTTCCTCTTCCTACAAGGGTCTCTCTCCATCCCTATAACTCTACTTCTTCAAAGCATTTCGCCTTGGAAGCAGTATTTCCTCTCTTTCCATTCCTCCCATGCATTCTTGTCACACCTCATGCTAGTGCCCAGGTAGACAGACACTGTTTTTGGCCAGCAGTGGGTAAGAGAGTGAGATGGCCAGGGGCATGGAAACTGTCAAAAGTGGTAGGATGGGCAGCCAATACAGGGAAACCTGTATCAGGGTCTATAGTTCTTTCAAGGGGAAAGAGAATTCCTATAAGACTAACCTTATGGATTCAGAGGAACAGACACACACAAGTCTGCTTCTTCACACATAAAGTTACTAGAAAGTATTTCCAACTCATATCCAACACAAACCTTCAGAATTCCATGAAATGGATTACAAATAAAGTTGGAATTGTGCCCATAACTGAGGTGGTAAGACCACTGTCAAAATTTTTTGAAATTAAAGAGGTAAAGAATTCTAAAATGCCTATGCTTCCGAGCTTTAATATGAATTAAAACACTTTAAAAACACAGTAGTATTTGCTCTTTGATATTTTTCAAAGAATCACATTTTATATTAATGGAATTGCTAT
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AATAGTAGCATGAGCTATATTTATACATTCTTATTGGATTTCTGAATTAAATGGAAAGGAAACTTCATGTTTCCACATACTCATTAGCTTCTCCCTTAAGAGCCTTTAATTCAGCGAATTTAGTGAACCAATAAGAAAACAAGATATAATTAGAATGCATTTAGCTTTTTAAAAGCAGATGAGGCAAAATCCTGATTGTGATTTAAAAACCTTTCGTGCATTTTGAGTACAAAGATTTTGATAAACAATCAATAATTTTTGCTATTTTCTGCACTGAAAAGGATATTTCTTTTTCTTGTGGGAAATTCACATACAAATCTTACTCAATATAACCAAAATACTAAGACGATACTTAAATTATACTTTCTTTTCCATTTAGGATAAGAAATAAAAACTTATACTTAAGAGATTTCTCATATCTTAACTCACAGAGAAAGCATAAACAAAACCCCACTTTTTTTCTTTTACCATCTGGATCTTCAGCAGGCTGAATGCTCATGTACGGTTCTCCTTTCTCCATGCGAGATTGTCTCTGTCGACTTTCTTCCTCTAAAGCAGCTTCTGCACGACTTTTTGCATTTATGTAAGCAAGGTACGCGGGGGAATTATGATAGGCCTTCATAGATTCATTGTACTCTATCTGAAATTCAAATGTTTTTTGGTTTTATAATTAACATTTTGCAGGTTATAATGCAGACCTATGTTATCTCACTTGAATATCAAAAGATATGATGTAAACAGGGTGTTGGGATAATTATCTCCTTTTTACAGGCAAGAAATCTGAGGCCTTGAGAAACTGACTTGACTCAGGTAGACAGAGCCTCAGTACTGCATCAGTGTTCTGACCAAATCTTATGTTACTTTTATAAATAGTAAGCCAATGTTTTATGTACTTTACACATTATCTATCCCACTGTGAGCCCCTACCCTACCTTTTCTGCTTCGTATTCGTTTAAATATTCTTGTTTTTCTTCATCAGTGAGATCTCGCCACATGCCACCAATAATCTTGCCAATCTCCCACAACTTTAGGTCAGGGTTGGAAGCCTTTACTTGGTCCCAGACCTTAAAAAGAAAACAGATGAAATGTTAATACTGATGTCTAAACGTATAGACCTTTAAAAATAGTTTTTAATGTGGAAACTTTTCAACATACAAAGCAGAGAAAACAGTATCAAATTTCTAGGTACTCATCAGCCTACTTCAAAAATTATCAAGAACTGGCCAATCTCAAGTTATCTTTGCCCTACTGGATTACTTTAAGATAGATCTCAGACATCACGTCACTCACTTATAAATACTTCAATTTGATAAGCAAGAATATCTCCAATCACTACAGACACTTAGGATGAGTTACTTCAATAACATAGTCTACGTCTCTAAAAGTTCATGTGAATTTAGAAGAAAAGTGCTTAATTTGCATAACACGGTACATCATATTATCAAATACAAATATAATAGTCAAGATCAAAAGGTTTAACATTTCTAGATAGTGGTTATAATGCTCTGCCTTTTAATAAAGATATTGGCTACTTTTTTTATTTTAAGAGTAATGTAGGCTCATCACCAAAAAAAAAAAAAAAAAAAGGAAAACTTGAGGAAAAGAAAATAAAAACTACCATAAGCTTACTGCTTAGAGATAATTATTGTCTTCTGTGTTTTCCCCCTTCAAACTAACATGTGGTTGCTATTATTTTTATAAAAATGAGATATTAATTCATGTAGTCTTGCAGTCCTCCTTCACTTAACATTTTCCTCACGTCATTAAATATTCTCCAAAAGAAATGACTTTAATGGCTATAGAACATTCTATCTTAAGGATTTTAACAGTTTATTTAATCACGCTCCTCTTGTTGGATTTTAGTTCTGGAATTTTGAAATCAGAACTAATTGCTTTAAAAACCGTATTTTTTTGGACCTTTCCTCTGAATATGCACAGAAAAGCTGGCTAAGCCGATCTAAAGTTGGATGTTAAGCAAAGAAGCAGCAAAGACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGGAGGGCATCAGCGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATCGTGATACCAGAGGATGCCTACGAAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGGCAAACTGAAAAGAGAGTCCCTTAAAAAATTCTAATGCGCCTTTCTTCTATTCGTCCAAATATTTTCTTCACTGAAAATAGCTATCACTGCAAATTCAGAAATGTTCAAAAGAAAATGACTTTAAGCACATAATTTTTAAATGTTTTACTTAGCAGTTTATTGCCAATGCTTTGACAACCTGGCTGCAAGAACAAATAAAATATTACACAGTAACCCATACATTGAAAATATATGGTTATATATCAACCGTCTCAAGTTCAGGACATTACCTGGTACCCTCTTATTCTGCTCAATTACCATTACACATACAGTCAACACTTGATTATCTGCAGCAGGATCTGAACCCTTAACACTTACCATTCTCACACTGTCTACAGGGGCCTTAACCTATTAGCACTAGGAATGTACTCCCAACACCACCACAAAAACAACTTCCCAGGTTCAAAAACAAAAACAATTAGTGAAATAACAAACCACCTTACCTCCTTTGCCAGGCTAGAGATTTTATTTCTCTTAAGGTTCTGTCTGTTACCTAGTGGTTTTCTTGTAAAGGGGAATGAGAAGTGTGAATTAAAAGTCACACATTGTTTTGTCCTGAGTCCTAATCACAGTGTAAAAGCAAACAAGTTTATCAGGAACAGAGAAGTGGCAGATATCGGGCCTGATTACGTTATTTTTGAGGTCTTATATCAAGAAGCTCCATTCCATTAAAAATGTTCAGTTTTATGGGAAAGACAGAGGAAAAGGAAAGATGTGATGTACAGGAAAAGAGAGACAGAAGAAAAGGAGGCGGAGGGAAGACTGAAAAATATTTTTTAAAAAGGTAAAGCAAAAATAGGTGAAAGAAAAAATAAAAAAAGAAGGAAAGAGAAAGATAAAGTGATCAGTTTTTCCTGTGGCTTAAAGTCTAGGTGAGATTCCAGACAGCCTCTGGTAGACCACCCAGATAACACCCATCTAAAAGTATCTATTTCTGAACTTTTTAGTCTCCTGTTAATATACATGACTGCATTTGATTAAAGACCCAGAATAAGAAAAATCATTGCTATTTCAGACAATTTGCAAATTTTCAGGAGATCTCTGATATTGACTCTCCCTGCTAGGCTGGAGAAATGAAGTGTTGGCTTTATTTTAATTATCGAAAGACAGGATTGGCAAATCCTTATAGGAAAACTAAAGTAACATTTTGTTCGCTTCCCCTTCTGTTGTTGCTATGATAAAACCCCAGAGATACTCCTCCACTCTGGGCTGGGACCCCAATCATAACCTTATTTTTCATTTGAGGGCTCAGGGATTAGCATGTTTGTGTCCTTTTCCACTATGATCAAGAAATGTTTCCTCTTCCTACAAGGGTCTCTCTCCATCCCTATAACTCTACTTCTTCAAAGCATTTCGCCTTGGAAGCAGTATTTCCTCTCTTTCCATTCCTCCCATGCATTCTTGTCACACCTCATGCTAGTGCCCAGGTAGACAGACACTGTTTTTGGCCAGCAGTGGGTAAGAGAGTGAGATGGCCAGGGGCATGGAAACTGTCAAAAGTGGTAGGATGGGCAGCCAATACAGGGAAACCTGTATCAGGGTCTATAGTTCTTTCAAGGGGAAAGAGAATTCCTATAAGACTAACCTTATGGATTCAGAGGAACAGACACACACAAGTCTGCTTCTTCACACATAAAGTTACTAGAAAGTATTTCCAACTCATATCCAACACAAACCTTCAGAATTCCATGAAATGGATTACAAATAAAGTTGGAATTGTGCCCATAACTGAGGTGGTAAGACCACTGTCAAAATTTTTTGAAATTAAAGAGGTAAAGAATTCTAAAATGCCTATGCTTCCGAGCTTTAATATGAATTAAAACACTTTAAAAACACAGTAGTATTTGCTCTTTGATATTTTTCAAAGAATCACATTTTATATTAATGGAATTGCTAT
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Task1_train_24236
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Assess the clinical impact of this variant on gene KRT25 (keratin 25), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Wooly hair, autosomal recessive 3
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GAGCTGGAGGCTATCATCCTTAGCAAGCTAACGCAGGAACAGAAAACCAAACACCACATGTTCTCACTTATAAGTGGGAGATAAATGATAAGGACTTATGAACACAAAGAAGGAAACAACAGATACTGGGTTCTACTTGAGGGGGAAGGGTGGGAGGAGGAAGAAGAGCAGAGAAGATAACTATTGGGTACCGGGCTTAATTCCTGGATGATCAAATAATATGCACAACAAACCTCCGTGACACGTGTTTACCTATGTAACAAACCTTCCAATGTACCCCCAAACCTAAATTAAAAGTTAAAAAATAAAAAATTAGCATTGCACAACAGATTTCATTTTAATTACCTTTGACTTGACTTCCCACATTTCCAGATCCATAATCTTTAGACTTGTAACCCCCAGACTTACAGGCTCTGTGAAAACATCGCAAAAGAGGGTGATTTAGAGAGAACCCCATCAATTCTAGGATCACCATATGGTTTTCTTTAGCTCTTTGGTAGTTTCAACTGTGTAACCCAGTATTTGATTTATAGTGTTTGCTGATTTCTGTAGAGGTATGAATACCTTCTCCATTGCTGATATCAAGTCACCAAGTGACATCACTAAGTGAGGGGTTAGGAAGAGAAGAGATAGGCAGAAGAGGCTGTCATGAGATGGTAACAGCAGTTCTAGCATGCCACTGGGTGTATTTATACAACTTAGGTTGAAATTCACCCTTTTAAGTTTTGCAGGTTTATGAATTGTGACAAATTTATATAGCTGTGTAAGGATTTACATTTGGAAGCATCACTCTAGTCAATGAGGGAGGGTTTGATGATAGGTGGGGAAGAGTGGTGTAGATCGCTTCAGCAGTTAGGCAATTACAAGATACTTTTCCTAAGTGGGGTTTTCTCTGAGACTGTAATGTTTTTGTTCTGCTTCAGCATTAAGAAGTGATTTTTTTTTCTGTATGATTCCTTTTATATTAACATCAAGAATGGATAAAATAATAACTGCCAAGGGAAGTGGGGCACAGAAGAACTTTCTGGGGTGATGAAAATGATCTTCATTGTGAATTCAGGAAGCTTCCTGCTCCTAACAACCCTGAGCTCTAGACATCCAGACTTGTGGCCATGGGACTTTATCAGTGCTATGAAGACAGGATTCTGTGAGTGCTGAGCTCCAGAAACCATTTCCAGAGTCAGAATCCTGGTCCACATATTGAAACTCCATTTAGCCTCCCGTTTGTTCTTTTCACTCTAGAAGTGATATTTTCAATGTTCATATCTTGAACTCGGTGCCTGCTGCATATTGGTTTAAGATATTAATTTGTATTTTGGCAGTTGAGTATGTATTATATTTAATATTTAGTATTCATGATAATAAATGCATGCAGCCAAATTATGTCCGCTTTCCAGTGGAAAGTGGGATCTAAGTTGCAAGCAGATTTCAGTATATTACGCCATCTATGCAGATTATTTTACCTACCCATCATCTCCTCCTATAAGGAGACAGTAGGTCTCAATTTCTTTTTCCAGGTGGAGCTTGATGTCCAGGAGCTGCTCATACTCCAGCTTCTGGCCCTCGGTCTCGGTTCTGACCTGGTGCAGCTGCTCCTCCAGGGCCCCGATCTGAGCCTGGATCTGCGCCAGCTGCGCACAGTAGTTGCTCTCGGTCTCTGTCAAGGAGCACTCCAGGGAGTGTTTCTGTCAGGAAGCAATAAAGAGAACTTGAAATGGATATGCAGATATGCAGGGATTTCTTTGATACATGATTTTCTCCTGCTGTTAACTTTACATATAATTGTTTCAGATTTCACATGGACACATAGTTAAGACTCTGTGATACTGCTTGAAAATGAGCAAATCCTTCTTTTTAGTAGAATAAACCTAAAGACATTCGTGTAGTTTTAGGTGTCAGCTATACAATCCTATTCTTTCCTTATGTTTTGAGACAATTATAAACAAATATATTTCAATATTGTTAAGGTTTTTAAAACCAGCTGGCAAGTATCTAACATGATGACCTGGGAGATGGTGAAAAAAAATTGTTCTTTTCATACCGTGGCTAGGAGAGACTGAAGTTCAATTTCCAGGGTTTGAAGAGTGCGCTTCATTTCAGTCAGCTCATTCCGGGCTGAGGTTGTGGCTCCGACATCCTCAGAGATCTGCTGCTGCAGGGAGGCGCTCTGAAATGACATAAGTGAAGGAGCAAATCTTAGTTTTGTGAATACCAGTAACATGCAAAGGGACCGTTTTCTGGAGGAGAGTCACCTTCTCGTTGAACCAGGCCTCCGCGTCCCTGCGGTTCTGCTCTGCAAGGGCTTCGTACTCAGCTCGCATGTTGTTCAGCAGAACTGTGAGGTCCACCCCGGGGGCTGCGTTCATCTCCACGTTCACGTTGCCTCCAGCTGCGCACTGCAGAACTTGCATTTCCTAGAGGCAGAAAAGTGTTCTGCTCAGCTCTGCAGGAATCTCATGGAAAGTCTAGAAGCTTAGCTTTGGAAGGGCACTTAGAGTTCGTCTGGTTTTCCCCTCCCAGGCTGTGCATTGACCCCCTCCCACCACATTTGATACTTCCTGTCCCGTTGACCTAATTCTCAAAGACGGTGAACTCACTACCTTATGAAGTAGCCTGTTTCATTCTGGGAGAGTTTTAATTGTTCCAGAGTTCTTTATTATAGTGAGCCAAACTCCTGCTCTTATAACTTAAACTCATCAGTTTCAGTTCTACTACTCAGAATGCATCTTAATTCCTTTTCCATATGAAAGTTTTAAACATTTAAAATGAATGGTCCTCCATCGCTTATTCTATTCTCGGCCTTTGTGGACTGGTCTTCCTTCCACTAGAGGCCAGCTTTGGTGCAGTGTTAACTCAGCTACACCCTGAGCACAGCCATGAACATGGTTGAAGGGTTGAGTATGAATAATTCTGAACAATTGAAATGATGATAAATAAATAAATGTATGTGTGTGTGTGTGTGTGTGCGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACCCCTCAGGGAAGAACATCATCCCCTAAAGAATCCCAGCTGTCTATTAAGTCTATACAGGGACATTACAGTATCATGTTGGACTTTGGAGTCACGCAGATCTCTCTGAATTTTGGTTCTGCCCTATAGTGGCTAGTGAGTTTGGGAAAGTTGCTTAACCTTTTTACGTTTCTATTTGCTTATCTGAAAATTGAGGATAATTAAAAACCCTTCTCTGAGTTGTTAAAAGAAGTCAAAGAACTAATAATAATAATAAGACTCCGTGATACTGCCTTGCACATAAATGCTAAATGAATGCTGGTTATTATGATTATTATCATCATGGAAGCTGGAATTTATTTTGCAGTCAAAGTCTACATGTTACCCTGTCTGAACTGCAAGCTGTTAGAATGTGTGAGTCAGTTCTAAGATTGTGAATGGTAGGCATCGCTGCGAAGACTGTGTATATTGGAATACCACCCATCAGCTTATGTCTGCTGCAGAAACTCTCCTCCCCATTCATGAATTGGTCTTAATGATGGTAACTAAGGCTTTCATTCCTCCCTGCAGCGAGCCCCTCAGCCATTCCAGCCTTCTTTCCTCCTGGTTGAAACTATGTCTTCCTGATCTACAGATGTGGCTTTTACTTCTGAGGATTTAGTGAAAACTTCCTGGTTCAAGCATAAAAAGAAAAAGATAAAAAAAGATATATGTATATCATCTATATCTATATATCTATATCTATATCTATATCTAGGGTTGCCTGTAAATGAGGCATTACAAAAATCAATTGCTTTTGATTCATCAAAAATTGATTAAACACCATGGGCTGTAACTATATTTGAATCCACGTAGTCAAATCAATGTTATTCAAGTAGTTATATTTATAAGACAGCCTCATGACTAATCAAGTAGGATTCTTAGCTTGATCTTCTGTTTTAAGCATTTGGCTTGACCATAGAAGTCTTTTGGCTATTTAAAATATCAAATTTATTTTCAAAGGATAAAGATTTTTCCCTTTTGGAAAACAGTGCCTCTGAAAGCAATCCTAAAGATGTAATTGCTGCAATATAAAATTTGGAACTTAGCTTCCAACAGTGACCACTTTGGAAGTTT
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GAGCTGGAGGCTATCATCCTTAGCAAGCTAACGCAGGAACAGAAAACCAAACACCACATGTTCTCACTTATAAGTGGGAGATAAATGATAAGGACTTATGAACACAAAGAAGGAAACAACAGATACTGGGTTCTACTTGAGGGGGAAGGGTGGGAGGAGGAAGAAGAGCAGAGAAGATAACTATTGGGTACCGGGCTTAATTCCTGGATGATCAAATAATATGCACAACAAACCTCCGTGACACGTGTTTACCTATGTAACAAACCTTCCAATGTACCCCCAAACCTAAATTAAAAGTTAAAAAATAAAAAATTAGCATTGCACAACAGATTTCATTTTAATTACCTTTGACTTGACTTCCCACATTTCCAGATCCATAATCTTTAGACTTGTAACCCCCAGACTTACAGGCTCTGTGAAAACATCGCAAAAGAGGGTGATTTAGAGAGAACCCCATCAATTCTAGGATCACCATATGGTTTTCTTTAGCTCTTTGGTAGTTTCAACTGTGTAACCCAGTATTTGATTTATAGTGTTTGCTGATTTCTGTAGAGGTATGAATACCTTCTCCATTGCTGATATCAAGTCACCAAGTGACATCACTAAGTGAGGGGTTAGGAAGAGAAGAGATAGGCAGAAGAGGCTGTCATGAGATGGTAACAGCAGTTCTAGCATGCCACTGGGTGTATTTATACAACTTAGGTTGAAATTCACCCTTTTAAGTTTTGCAGGTTTATGAATTGTGACAAATTTATATAGCTGTGTAAGGATTTACATTTGGAAGCATCACTCTAGTCAATGAGGGAGGGTTTGATGATAGGTGGGGAAGAGTGGTGTAGATCGCTTCAGCAGTTAGGCAATTACAAGATACTTTTCCTAAGTGGGGTTTTCTCTGAGACTGTAATGTTTTTGTTCTGCTTCAGCATTAAGAAGTGATTTTTTTTTCTGTATGATTCCTTTTATATTAACATCAAGAATGGATAAAATAATAACTGCCAAGGGAAGTGGGGCACAGAAGAACTTTCTGGGGTGATGAAAATGATCTTCATTGTGAATTCAGGAAGCTTCCTGCTCCTAACAACCCTGAGCTCTAGACATCCAGACTTGTGGCCATGGGACTTTATCAGTGCTATGAAGACAGGATTCTGTGAGTGCTGAGCTCCAGAAACCATTTCCAGAGTCAGAATCCTGGTCCACATATTGAAACTCCATTTAGCCTCCCGTTTGTTCTTTTCACTCTAGAAGTGATATTTTCAATGTTCATATCTTGAACTCGGTGCCTGCTGCATATTGGTTTAAGATATTAATTTGTATTTTGGCAGTTGAGTATGTATTATATTTAATATTTAGTATTCATGATAATAAATGCATGCAGCCAAATTATGTCCGCTTTCCAGTGGAAAGTGGGATCTAAGTTGCAAGCAGATTTCAGTATATTACGCCATCTATGCAGATTATTTTACCTACCCATCATCTCCTCCTATAAGGAGACAGTAGGTCTCAATTTCTTTTTCCAGGTGGAGCTTGATGTCCAGGAGCTGCTCATACTCCAGCTTCTGGCCCTCGGTCTCGGTTCTGACCTGGTGCAGCTGCTCCTCCAGGGCCCCGATCTGAGCCTGGATCTGCGCCAGCTGCGCACAGTAGTTGCTCTCGGTCTCTGTCAAGGAGCACTCCAGGGAGTGTTTCTGTCAGGAAGCAATAAAGAGAACTTGAAATGGATATGCAGATATGCAGGGATTTCTTTGATACATGATTTTCTCCTGCTGTTAACTTTACATATAATTGTTTCAGATTTCACATGGACACATAGTTAAGACTCTGTGATACTGCTTGAAAATGAGCAAATCCTTCTTTTTAGTAGAATAAACCTAAAGACATTCGTGTAGTTTTAGGTGTCAGCTATACAATCCTATTCTTTCCTTATGTTTTGAGACAATTATAAACAAATATATTTCAATATTGTTAAGGTTTTTAAAACCAGCTGGCAAGTATCTAACATGATGACCTGGGAGATGGTGAAAAAAAATTGTTCTTTTCATACCGTGGCTGGGAGAGACTGAAGTTCAATTTCCAGGGTTTGAAGAGTGCGCTTCATTTCAGTCAGCTCATTCCGGGCTGAGGTTGTGGCTCCGACATCCTCAGAGATCTGCTGCTGCAGGGAGGCGCTCTGAAATGACATAAGTGAAGGAGCAAATCTTAGTTTTGTGAATACCAGTAACATGCAAAGGGACCGTTTTCTGGAGGAGAGTCACCTTCTCGTTGAACCAGGCCTCCGCGTCCCTGCGGTTCTGCTCTGCAAGGGCTTCGTACTCAGCTCGCATGTTGTTCAGCAGAACTGTGAGGTCCACCCCGGGGGCTGCGTTCATCTCCACGTTCACGTTGCCTCCAGCTGCGCACTGCAGAACTTGCATTTCCTAGAGGCAGAAAAGTGTTCTGCTCAGCTCTGCAGGAATCTCATGGAAAGTCTAGAAGCTTAGCTTTGGAAGGGCACTTAGAGTTCGTCTGGTTTTCCCCTCCCAGGCTGTGCATTGACCCCCTCCCACCACATTTGATACTTCCTGTCCCGTTGACCTAATTCTCAAAGACGGTGAACTCACTACCTTATGAAGTAGCCTGTTTCATTCTGGGAGAGTTTTAATTGTTCCAGAGTTCTTTATTATAGTGAGCCAAACTCCTGCTCTTATAACTTAAACTCATCAGTTTCAGTTCTACTACTCAGAATGCATCTTAATTCCTTTTCCATATGAAAGTTTTAAACATTTAAAATGAATGGTCCTCCATCGCTTATTCTATTCTCGGCCTTTGTGGACTGGTCTTCCTTCCACTAGAGGCCAGCTTTGGTGCAGTGTTAACTCAGCTACACCCTGAGCACAGCCATGAACATGGTTGAAGGGTTGAGTATGAATAATTCTGAACAATTGAAATGATGATAAATAAATAAATGTATGTGTGTGTGTGTGTGTGTGCGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACCCCTCAGGGAAGAACATCATCCCCTAAAGAATCCCAGCTGTCTATTAAGTCTATACAGGGACATTACAGTATCATGTTGGACTTTGGAGTCACGCAGATCTCTCTGAATTTTGGTTCTGCCCTATAGTGGCTAGTGAGTTTGGGAAAGTTGCTTAACCTTTTTACGTTTCTATTTGCTTATCTGAAAATTGAGGATAATTAAAAACCCTTCTCTGAGTTGTTAAAAGAAGTCAAAGAACTAATAATAATAATAAGACTCCGTGATACTGCCTTGCACATAAATGCTAAATGAATGCTGGTTATTATGATTATTATCATCATGGAAGCTGGAATTTATTTTGCAGTCAAAGTCTACATGTTACCCTGTCTGAACTGCAAGCTGTTAGAATGTGTGAGTCAGTTCTAAGATTGTGAATGGTAGGCATCGCTGCGAAGACTGTGTATATTGGAATACCACCCATCAGCTTATGTCTGCTGCAGAAACTCTCCTCCCCATTCATGAATTGGTCTTAATGATGGTAACTAAGGCTTTCATTCCTCCCTGCAGCGAGCCCCTCAGCCATTCCAGCCTTCTTTCCTCCTGGTTGAAACTATGTCTTCCTGATCTACAGATGTGGCTTTTACTTCTGAGGATTTAGTGAAAACTTCCTGGTTCAAGCATAAAAAGAAAAAGATAAAAAAAGATATATGTATATCATCTATATCTATATATCTATATCTATATCTATATCTAGGGTTGCCTGTAAATGAGGCATTACAAAAATCAATTGCTTTTGATTCATCAAAAATTGATTAAACACCATGGGCTGTAACTATATTTGAATCCACGTAGTCAAATCAATGTTATTCAAGTAGTTATATTTATAAGACAGCCTCATGACTAATCAAGTAGGATTCTTAGCTTGATCTTCTGTTTTAAGCATTTGGCTTGACCATAGAAGTCTTTTGGCTATTTAAAATATCAAATTTATTTTCAAAGGATAAAGATTTTTCCCTTTTGGAAAACAGTGCCTCTGAAAGCAATCCTAAAGATGTAATTGCTGCAATATAAAATTTGGAACTTAGCTTCCAACAGTGACCACTTTGGAAGTTT
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Task1_train_24237
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A mutation in KRT25 (keratin 25), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Autosomal Recessive Hypotrichosis with Woolly Hair
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CAACAGATTTCATTTTAATTACCTTTGACTTGACTTCCCACATTTCCAGATCCATAATCTTTAGACTTGTAACCCCCAGACTTACAGGCTCTGTGAAAACATCGCAAAAGAGGGTGATTTAGAGAGAACCCCATCAATTCTAGGATCACCATATGGTTTTCTTTAGCTCTTTGGTAGTTTCAACTGTGTAACCCAGTATTTGATTTATAGTGTTTGCTGATTTCTGTAGAGGTATGAATACCTTCTCCATTGCTGATATCAAGTCACCAAGTGACATCACTAAGTGAGGGGTTAGGAAGAGAAGAGATAGGCAGAAGAGGCTGTCATGAGATGGTAACAGCAGTTCTAGCATGCCACTGGGTGTATTTATACAACTTAGGTTGAAATTCACCCTTTTAAGTTTTGCAGGTTTATGAATTGTGACAAATTTATATAGCTGTGTAAGGATTTACATTTGGAAGCATCACTCTAGTCAATGAGGGAGGGTTTGATGATAGGTGGGGAAGAGTGGTGTAGATCGCTTCAGCAGTTAGGCAATTACAAGATACTTTTCCTAAGTGGGGTTTTCTCTGAGACTGTAATGTTTTTGTTCTGCTTCAGCATTAAGAAGTGATTTTTTTTTCTGTATGATTCCTTTTATATTAACATCAAGAATGGATAAAATAATAACTGCCAAGGGAAGTGGGGCACAGAAGAACTTTCTGGGGTGATGAAAATGATCTTCATTGTGAATTCAGGAAGCTTCCTGCTCCTAACAACCCTGAGCTCTAGACATCCAGACTTGTGGCCATGGGACTTTATCAGTGCTATGAAGACAGGATTCTGTGAGTGCTGAGCTCCAGAAACCATTTCCAGAGTCAGAATCCTGGTCCACATATTGAAACTCCATTTAGCCTCCCGTTTGTTCTTTTCACTCTAGAAGTGATATTTTCAATGTTCATATCTTGAACTCGGTGCCTGCTGCATATTGGTTTAAGATATTAATTTGTATTTTGGCAGTTGAGTATGTATTATATTTAATATTTAGTATTCATGATAATAAATGCATGCAGCCAAATTATGTCCGCTTTCCAGTGGAAAGTGGGATCTAAGTTGCAAGCAGATTTCAGTATATTACGCCATCTATGCAGATTATTTTACCTACCCATCATCTCCTCCTATAAGGAGACAGTAGGTCTCAATTTCTTTTTCCAGGTGGAGCTTGATGTCCAGGAGCTGCTCATACTCCAGCTTCTGGCCCTCGGTCTCGGTTCTGACCTGGTGCAGCTGCTCCTCCAGGGCCCCGATCTGAGCCTGGATCTGCGCCAGCTGCGCACAGTAGTTGCTCTCGGTCTCTGTCAAGGAGCACTCCAGGGAGTGTTTCTGTCAGGAAGCAATAAAGAGAACTTGAAATGGATATGCAGATATGCAGGGATTTCTTTGATACATGATTTTCTCCTGCTGTTAACTTTACATATAATTGTTTCAGATTTCACATGGACACATAGTTAAGACTCTGTGATACTGCTTGAAAATGAGCAAATCCTTCTTTTTAGTAGAATAAACCTAAAGACATTCGTGTAGTTTTAGGTGTCAGCTATACAATCCTATTCTTTCCTTATGTTTTGAGACAATTATAAACAAATATATTTCAATATTGTTAAGGTTTTTAAAACCAGCTGGCAAGTATCTAACATGATGACCTGGGAGATGGTGAAAAAAAATTGTTCTTTTCATACCGTGGCTAGGAGAGACTGAAGTTCAATTTCCAGGGTTTGAAGAGTGCGCTTCATTTCAGTCAGCTCATTCCGGGCTGAGGTTGTGGCTCCGACATCCTCAGAGATCTGCTGCTGCAGGGAGGCGCTCTGAAATGACATAAGTGAAGGAGCAAATCTTAGTTTTGTGAATACCAGTAACATGCAAAGGGACCGTTTTCTGGAGGAGAGTCACCTTCTCGTTGAACCAGGCCTCCGCGTCCCTGCGGTTCTGCTCTGCAAGGGCTTCGTACTCAGCTCGCATGTTGTTCAGCAGAACTGTGAGGTCCACCCCGGGGGCTGCGTTCATCTCCACGTTCACGTTGCCTCCAGCTGCGCACTGCAGAACTTGCATTTCCTAGAGGCAGAAAAGTGTTCTGCTCAGCTCTGCAGGAATCTCATGGAAAGTCTAGAAGCTTAGCTTTGGAAGGGCACTTAGAGTTCGTCTGGTTTTCCCCTCCCAGGCTGTGCATTGACCCCCTCCCACCACATTTGATACTTCCTGTCCCGTTGACCTAATTCTCAAAGACGGTGAACTCACTACCTTATGAAGTAGCCTGTTTCATTCTGGGAGAGTTTTAATTGTTCCAGAGTTCTTTATTATAGTGAGCCAAACTCCTGCTCTTATAACTTAAACTCATCAGTTTCAGTTCTACTACTCAGAATGCATCTTAATTCCTTTTCCATATGAAAGTTTTAAACATTTAAAATGAATGGTCCTCCATCGCTTATTCTATTCTCGGCCTTTGTGGACTGGTCTTCCTTCCACTAGAGGCCAGCTTTGGTGCAGTGTTAACTCAGCTACACCCTGAGCACAGCCATGAACATGGTTGAAGGGTTGAGTATGAATAATTCTGAACAATTGAAATGATGATAAATAAATAAATGTATGTGTGTGTGTGTGTGTGTGCGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACCCCTCAGGGAAGAACATCATCCCCTAAAGAATCCCAGCTGTCTATTAAGTCTATACAGGGACATTACAGTATCATGTTGGACTTTGGAGTCACGCAGATCTCTCTGAATTTTGGTTCTGCCCTATAGTGGCTAGTGAGTTTGGGAAAGTTGCTTAACCTTTTTACGTTTCTATTTGCTTATCTGAAAATTGAGGATAATTAAAAACCCTTCTCTGAGTTGTTAAAAGAAGTCAAAGAACTAATAATAATAATAAGACTCCGTGATACTGCCTTGCACATAAATGCTAAATGAATGCTGGTTATTATGATTATTATCATCATGGAAGCTGGAATTTATTTTGCAGTCAAAGTCTACATGTTACCCTGTCTGAACTGCAAGCTGTTAGAATGTGTGAGTCAGTTCTAAGATTGTGAATGGTAGGCATCGCTGCGAAGACTGTGTATATTGGAATACCACCCATCAGCTTATGTCTGCTGCAGAAACTCTCCTCCCCATTCATGAATTGGTCTTAATGATGGTAACTAAGGCTTTCATTCCTCCCTGCAGCGAGCCCCTCAGCCATTCCAGCCTTCTTTCCTCCTGGTTGAAACTATGTCTTCCTGATCTACAGATGTGGCTTTTACTTCTGAGGATTTAGTGAAAACTTCCTGGTTCAAGCATAAAAAGAAAAAGATAAAAAAAGATATATGTATATCATCTATATCTATATATCTATATCTATATCTATATCTAGGGTTGCCTGTAAATGAGGCATTACAAAAATCAATTGCTTTTGATTCATCAAAAATTGATTAAACACCATGGGCTGTAACTATATTTGAATCCACGTAGTCAAATCAATGTTATTCAAGTAGTTATATTTATAAGACAGCCTCATGACTAATCAAGTAGGATTCTTAGCTTGATCTTCTGTTTTAAGCATTTGGCTTGACCATAGAAGTCTTTTGGCTATTTAAAATATCAAATTTATTTTCAAAGGATAAAGATTTTTCCCTTTTGGAAAACAGTGCCTCTGAAAGCAATCCTAAAGATGTAATTGCTGCAATATAAAATTTGGAACTTAGCTTCCAACAGTGACCACTTTGGAAGTTTATGATTAAGTGTAAATTCTGGTATAATAGTTTAACTTCATGCTCATTATTTTTACAGCCAGACCTATTAAGAATATGTACTAGCGTTAAGTATGTATACTTAATGTGTGTATGAAGTAAATGTTTTAGTGTTTTAAATCTGCCACTGTCATTTAGAAATTGAGATCTAGTTTTCTAGTTTAAGGATGGCCTTAAAGTATATTTATTTTATATTTATTTTATCTAATTAGACTTAATGTCCAAAGCGGATCATTTTAACTTAGTTATAATTACACAGCCAAACACTGCTCTTATAACCCTGATTGGTCTGGAAAACATGATTCG
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CAACAGATTTCATTTTAATTACCTTTGACTTGACTTCCCACATTTCCAGATCCATAATCTTTAGACTTGTAACCCCCAGACTTACAGGCTCTGTGAAAACATCGCAAAAGAGGGTGATTTAGAGAGAACCCCATCAATTCTAGGATCACCATATGGTTTTCTTTAGCTCTTTGGTAGTTTCAACTGTGTAACCCAGTATTTGATTTATAGTGTTTGCTGATTTCTGTAGAGGTATGAATACCTTCTCCATTGCTGATATCAAGTCACCAAGTGACATCACTAAGTGAGGGGTTAGGAAGAGAAGAGATAGGCAGAAGAGGCTGTCATGAGATGGTAACAGCAGTTCTAGCATGCCACTGGGTGTATTTATACAACTTAGGTTGAAATTCACCCTTTTAAGTTTTGCAGGTTTATGAATTGTGACAAATTTATATAGCTGTGTAAGGATTTACATTTGGAAGCATCACTCTAGTCAATGAGGGAGGGTTTGATGATAGGTGGGGAAGAGTGGTGTAGATCGCTTCAGCAGTTAGGCAATTACAAGATACTTTTCCTAAGTGGGGTTTTCTCTGAGACTGTAATGTTTTTGTTCTGCTTCAGCATTAAGAAGTGATTTTTTTTTCTGTATGATTCCTTTTATATTAACATCAAGAATGGATAAAATAATAACTGCCAAGGGAAGTGGGGCACAGAAGAACTTTCTGGGGTGATGAAAATGATCTTCATTGTGAATTCAGGAAGCTTCCTGCTCCTAACAACCCTGAGCTCTAGACATCCAGACTTGTGGCCATGGGACTTTATCAGTGCTATGAAGACAGGATTCTGTGAGTGCTGAGCTCCAGAAACCATTTCCAGAGTCAGAATCCTGGTCCACATATTGAAACTCCATTTAGCCTCCCGTTTGTTCTTTTCACTCTAGAAGTGATATTTTCAATGTTCATATCTTGAACTCGGTGCCTGCTGCATATTGGTTTAAGATATTAATTTGTATTTTGGCAGTTGAGTATGTATTATATTTAATATTTAGTATTCATGATAATAAATGCATGCAGCCAAATTATGTCCGCTTTCCAGTGGAAAGTGGGATCTAAGTTGCAAGCAGATTTCAGTATATTACGCCATCTATGCAGATTATTTTACCTACCCATCATCTCCTCCTATAAGGAGACAGTAGGTCTCAATTTCTTTTTCCAGGTGGAGCTTGATGTCCAGGAGCTGCTCATACTCCAGCTTCTGGCCCTCGGTCTCGGTTCTGACCTGGTGCAGCTGCTCCTCCAGGGCCCCGATCTGAGCCTGGATCTGCGCCAGCTGCGCACAGTAGTTGCTCTCGGTCTCTGTCAAGGAGCACTCCAGGGAGTGTTTCTGTCAGGAAGCAATAAAGAGAACTTGAAATGGATATGCAGATATGCAGGGATTTCTTTGATACATGATTTTCTCCTGCTGTTAACTTTACATATAATTGTTTCAGATTTCACATGGACACATAGTTAAGACTCTGTGATACTGCTTGAAAATGAGCAAATCCTTCTTTTTAGTAGAATAAACCTAAAGACATTCGTGTAGTTTTAGGTGTCAGCTATACAATCCTATTCTTTCCTTATGTTTTGAGACAATTATAAACAAATATATTTCAATATTGTTAAGGTTTTTAAAACCAGCTGGCAAGTATCTAACATGATGACCTGGGAGATGGTGAAAAAAAATTGTTCTTTTCATACCGTGGCTAGGAGAGACTGAAGTTCAATTTCCAGGGTTTGAAGAGTGCGCTTCATTTCAGTCAGCTCATTCCGGGCTGAGGTTGTGGCTCCGACATCCTCAGAGATCTGCTGCTGCAGGGAGGCGCTCTGAAATGACATAAGTGAAGGAGCAAATCTTAGTTTTGTGAATACCAGTAACATGCAAAGGGACCGTTTTCTGGAGGAGAGTCACCTTCTCGTTGAACCAGGCCTCCGCGTCCCTGCGGTTCTGCTCTGCAAGGGCTTCGTACTCAGCTCGCATGTTGTTCAGCAGAACTGTGAGGTCCACCCCGGGGGCTGCGTTCATCTCCAAGTTCACGTTGCCTCCAGCTGCGCACTGCAGAACTTGCATTTCCTAGAGGCAGAAAAGTGTTCTGCTCAGCTCTGCAGGAATCTCATGGAAAGTCTAGAAGCTTAGCTTTGGAAGGGCACTTAGAGTTCGTCTGGTTTTCCCCTCCCAGGCTGTGCATTGACCCCCTCCCACCACATTTGATACTTCCTGTCCCGTTGACCTAATTCTCAAAGACGGTGAACTCACTACCTTATGAAGTAGCCTGTTTCATTCTGGGAGAGTTTTAATTGTTCCAGAGTTCTTTATTATAGTGAGCCAAACTCCTGCTCTTATAACTTAAACTCATCAGTTTCAGTTCTACTACTCAGAATGCATCTTAATTCCTTTTCCATATGAAAGTTTTAAACATTTAAAATGAATGGTCCTCCATCGCTTATTCTATTCTCGGCCTTTGTGGACTGGTCTTCCTTCCACTAGAGGCCAGCTTTGGTGCAGTGTTAACTCAGCTACACCCTGAGCACAGCCATGAACATGGTTGAAGGGTTGAGTATGAATAATTCTGAACAATTGAAATGATGATAAATAAATAAATGTATGTGTGTGTGTGTGTGTGTGCGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACCCCTCAGGGAAGAACATCATCCCCTAAAGAATCCCAGCTGTCTATTAAGTCTATACAGGGACATTACAGTATCATGTTGGACTTTGGAGTCACGCAGATCTCTCTGAATTTTGGTTCTGCCCTATAGTGGCTAGTGAGTTTGGGAAAGTTGCTTAACCTTTTTACGTTTCTATTTGCTTATCTGAAAATTGAGGATAATTAAAAACCCTTCTCTGAGTTGTTAAAAGAAGTCAAAGAACTAATAATAATAATAAGACTCCGTGATACTGCCTTGCACATAAATGCTAAATGAATGCTGGTTATTATGATTATTATCATCATGGAAGCTGGAATTTATTTTGCAGTCAAAGTCTACATGTTACCCTGTCTGAACTGCAAGCTGTTAGAATGTGTGAGTCAGTTCTAAGATTGTGAATGGTAGGCATCGCTGCGAAGACTGTGTATATTGGAATACCACCCATCAGCTTATGTCTGCTGCAGAAACTCTCCTCCCCATTCATGAATTGGTCTTAATGATGGTAACTAAGGCTTTCATTCCTCCCTGCAGCGAGCCCCTCAGCCATTCCAGCCTTCTTTCCTCCTGGTTGAAACTATGTCTTCCTGATCTACAGATGTGGCTTTTACTTCTGAGGATTTAGTGAAAACTTCCTGGTTCAAGCATAAAAAGAAAAAGATAAAAAAAGATATATGTATATCATCTATATCTATATATCTATATCTATATCTATATCTAGGGTTGCCTGTAAATGAGGCATTACAAAAATCAATTGCTTTTGATTCATCAAAAATTGATTAAACACCATGGGCTGTAACTATATTTGAATCCACGTAGTCAAATCAATGTTATTCAAGTAGTTATATTTATAAGACAGCCTCATGACTAATCAAGTAGGATTCTTAGCTTGATCTTCTGTTTTAAGCATTTGGCTTGACCATAGAAGTCTTTTGGCTATTTAAAATATCAAATTTATTTTCAAAGGATAAAGATTTTTCCCTTTTGGAAAACAGTGCCTCTGAAAGCAATCCTAAAGATGTAATTGCTGCAATATAAAATTTGGAACTTAGCTTCCAACAGTGACCACTTTGGAAGTTTATGATTAAGTGTAAATTCTGGTATAATAGTTTAACTTCATGCTCATTATTTTTACAGCCAGACCTATTAAGAATATGTACTAGCGTTAAGTATGTATACTTAATGTGTGTATGAAGTAAATGTTTTAGTGTTTTAAATCTGCCACTGTCATTTAGAAATTGAGATCTAGTTTTCTAGTTTAAGGATGGCCTTAAAGTATATTTATTTTATATTTATTTTATCTAATTAGACTTAATGTCCAAAGCGGATCATTTTAACTTAGTTATAATTACACAGCCAAACACTGCTCTTATAACCCTGATTGGTCTGGAAAACATGATTCG
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Task1_train_24238
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A mutation on Chromosome 17 affecting KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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CTGAGGGATGTGACTGGGCTATGAAAGTACAAGGTCTTTAGTCCTGATCACTGGGCACAGTTGGGGAAGGCAGAGACCTAGTGGTGTCCTTTTGGTTACACTGGCATCACTACTTCCTGACAGCGTTTCTCACGTTCATCTGATGGACATCAAATAATTTTGTTGGGGGTGATATGATTTTACTTGGGTGGTGTCAGAAGATATGTCAAGCTATATAACAATTGGGAAGAAGTAATATAGTAACTGGAAGAAAGTAAGAAAAGGCAAAGGTGAGAAGTCAGGTAATTAGAAAATATAAAATTTCCAATTATTATTATTTTGGGGGTTTTATTTGAGATATTCCAGAATTTCCAGGATTGAAATAATTTAAAGCCAGAGAGCTGGGAGCCTTCCACATATTGTGTATCTTAAAGAGTAATATTGGGGATTTACAGACTTTACTCAGTGAATTTACTGACGGTGGTCTGAACATACATGATTAAAAAACTTAGAAAAGGCATGACAATAGTTCTGTCTTCCGAATTTCTGGATACATCAACCTTCAACTGCTATGGGTTACTAATCTTTAATTTTAAAGAGTATTATGTACTTAAGTAAAGATAAATTCTGACAAATTGGGATAGTTTGCATCAGTAAGAAAGTTTATTGAAATTCATTAGTAAATGAGAACAGAAAGTTGTTTTTCTTTCCATTAAAGAACACTTTCTGGTAAAGTGAAAAGAAGAAATACAGAAACCACAAAACACCTTGTAGACACCTTATTTTCAAGGTCTATTTCCATAGACCATCAAGACAGAAGTGTTTTCTTGGAGACTTTGTTTTCCATGCATCTGTAAATAATGGTCTGTGTGAAGGGAGACTCTTTCCTCTTGATGCAGTTTAATAGTAGTGTTTCTTGGTTTCTGATTCAACCATAGATGAAAGAACTCTACCGTCGGGCGCCACCTCTTCAATAATTGTCTTGATTACTCTGGTTTTGTTAGTATCTGTGTGAATGATGGAAAAAAAATTTTAAACAGTCTGTAGGGATCCTTAGTAATTAACAAGCAAATATTGTAAAAAGAAGGAAATTTCAACTTTACATTGTTAAGCCCAAAAAAATGCTTAAGGTATGACATTTTGATCATGCCATTTTTCACGGCTGGTGTTAAGAGTAGTTTGTGAACAAATGCAAACGGAACCGTCTCTAAGATTTTTAATTTTTTAAAACAACTCTAGAGCTTAAAGCGCAAAAAAACCATCACAGGAAGTTAAAACTAATTCTGATTACCCCAGCTAGTTTCTGCTGACCTTGGTCCCTTAGATGAAGACTCGCCCACGGACCCGGAAGAGGAGGACTTGTGGCCTCCGCTGGAGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCACCGTAGCCGCCGCTGGAACTGCCGCCGTGGCCGCCGCTGGAGCTTCCGCCCCCGTAGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCTCCGTAGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTGGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCGCCGTAGCCGCCGCCGAAACTTCCGCCGCCGCGTCCGCCGCCTCCGGAACTAAACGGGGTGAGGTCACATTCGGTTATCTCTAACGTTGGAAAACGGTGGGTAGCTTTCCAGTTGCCGTTAATTTAGAAAATAAGCAAAACGTGTTGAAAAAATAAAACCCTGCCAGGTATATATTTTAAAACCCATCCTTTGAAAACAATGTTAAGTTCACAGAACTCTTAAGAATCATTTTGGGCCAAATTCATGAGAAAGTGAGATTGCGGTTGCGTACTCCTTTTTCTGTACTCTACCCTCTCTCCTCCCTTCCTCTCATTCTCTGGCATCTTCTTGGGGTTTAGATAAGCCTTGCTATCTGGAATATTGAATAAAAGAAACTGGGATAACTTTTCATTTTAAAATTTACCTTCCCTCTCCTTCTAGCAGGCTGCGGTAGGTTTGAATTTCATTCTCCAGTCGGATCTTAATATCCAGGAGTTGTTGGTATTCAGTATTCTGGCACTCGGTTTCAGCTCGAATCTGTTGCAACTGTTCTTCCAGAGCGGATATCTGGGCCTGAATCTGTGAGAGCTGCACACAGTAGCGACCTTCTGTTTCTGCCAAGGAGGCTTCCAGGGATTGTTTCTGAAACGGATTTTTTTGTGGCTTAGTGACTTCCTTGTTCAGTTGAGTATGGTGACGCTTATTTGATTATTTAGTAAGGCATTATATAGAAGAATAAGAAAATGAACAGAATTTGTTGTATGTTTAATGGCACCATTTCAGTTTCAGCACTTTTAGATCAACACTAGTAGTACTTTTCCTCCATTAACATGAGCTTCACTTTGTTTTCTCTTTCTTACCTCCAACTCTGCATTTTTTTGTTGCATTGCATATTCTTAGGTGAGCATGAAACTTTGTATGATAAAGTTGAAGTCATTTCATGAGAGTTAACATACCAAGGCCAGTTGGGACTGTAGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACT
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CTGAGGGATGTGACTGGGCTATGAAAGTACAAGGTCTTTAGTCCTGATCACTGGGCACAGTTGGGGAAGGCAGAGACCTAGTGGTGTCCTTTTGGTTACACTGGCATCACTACTTCCTGACAGCGTTTCTCACGTTCATCTGATGGACATCAAATAATTTTGTTGGGGGTGATATGATTTTACTTGGGTGGTGTCAGAAGATATGTCAAGCTATATAACAATTGGGAAGAAGTAATATAGTAACTGGAAGAAAGTAAGAAAAGGCAAAGGTGAGAAGTCAGGTAATTAGAAAATATAAAATTTCCAATTATTATTATTTTGGGGGTTTTATTTGAGATATTCCAGAATTTCCAGGATTGAAATAATTTAAAGCCAGAGAGCTGGGAGCCTTCCACATATTGTGTATCTTAAAGAGTAATATTGGGGATTTACAGACTTTACTCAGTGAATTTACTGACGGTGGTCTGAACATACATGATTAAAAAACTTAGAAAAGGCATGACAATAGTTCTGTCTTCCGAATTTCTGGATACATCAACCTTCAACTGCTATGGGTTACTAATCTTTAATTTTAAAGAGTATTATGTACTTAAGTAAAGATAAATTCTGACAAATTGGGATAGTTTGCATCAGTAAGAAAGTTTATTGAAATTCATTAGTAAATGAGAACAGAAAGTTGTTTTTCTTTCCATTAAAGAACACTTTCTGGTAAAGTGAAAAGAAGAAATACAGAAACCACAAAACACCTTGTAGACACCTTATTTTCAAGGTCTATTTCCATAGACCATCAAGACAGAAGTGTTTTCTTGGAGACTTTGTTTTCCATGCATCTGTAAATAATGGTCTGTGTGAAGGGAGACTCTTTCCTCTTGATGCAGTTTAATAGTAGTGTTTCTTGGTTTCTGATTCAACCATAGATGAAAGAACTCTACCGTCGGGCGCCACCTCTTCAATAATTGTCTTGATTACTCTGGTTTTGTTAGTATCTGTGTGAATGATGGAAAAAAAATTTTAAACAGTCTGTAGGGATCCTTAGTAATTAACAAGCAAATATTGTAAAAAGAAGGAAATTTCAACTTTACATTGTTAAGCCCAAAAAAATGCTTAAGGTATGACATTTTGATCATGCCATTTTTCACGGCTGGTGTTAAGAGTAGTTTGTGAACAAATGCAAACGGAACCGTCTCTAAGATTTTTAATTTTTTAAAACAACTCTAGAGCTTAAAGCGCAAAAAAACCATCACAGGAAGTTAAAACTAATTCTGATTACCCCAGCTAGTTTCTGCTGACCTTGGTCCCTTAGATGAAGACTCGCCCACGGACCCGGAAGAGGAGGACTTGTGGCCTCCGCTGGAGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCACCGTAGCCGCCGCTGGAACTGCCGCCGTGGCCGCCGCTGGAGCTTCCGCCCCCGTAGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCTCCGTAGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTGGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCGCCGTAGCCGCCGCCGAAACTTCCGCCGCCGCGTCCGCCGCCTCCGGAACTAAACGGGGTGAGGTCACATTCGGTTATCTCTAACGTTGGAAAACGGTGGGTAGCTTTCCAGTTGCCGTTAATTTAGAAAATAAGCAAAACGTGTTGAAAAAATAAAACCCTGCCAGGTATATATTTTAAAACCCATCCTTTGAAAACAATGTTAAGTTCACAGAACTCTTAAGAATCATTTTGGGCCAAATTCATGAGAAAGTGAGATTGCGGTTGCGTACTCCTTTTTCTGTACTCTACCCTCTCTCCTCCCTTCCTCTCATTCTCTGGCATCTTCTTGGGGTTTAGATAAGCCTTGCTATCTGGAATATTGAATAAAAGAAACTGGGATAACTTTTCATTTTAAAATTTACCTTCCCTCTCCTTCTAGCAGGCTGCGGTGGGTTTGAATTTCATTCTCCAGTCGGATCTTAATATCCAGGAGTTGTTGGTATTCAGTATTCTGGCACTCGGTTTCAGCTCGAATCTGTTGCAACTGTTCTTCCAGAGCGGATATCTGGGCCTGAATCTGTGAGAGCTGCACACAGTAGCGACCTTCTGTTTCTGCCAAGGAGGCTTCCAGGGATTGTTTCTGAAACGGATTTTTTTGTGGCTTAGTGACTTCCTTGTTCAGTTGAGTATGGTGACGCTTATTTGATTATTTAGTAAGGCATTATATAGAAGAATAAGAAAATGAACAGAATTTGTTGTATGTTTAATGGCACCATTTCAGTTTCAGCACTTTTAGATCAACACTAGTAGTACTTTTCCTCCATTAACATGAGCTTCACTTTGTTTTCTCTTTCTTACCTCCAACTCTGCATTTTTTTGTTGCATTGCATATTCTTAGGTGAGCATGAAACTTTGTATGATAAAGTTGAAGTCATTTCATGAGAGTTAACATACCAAGGCCAGTTGGGACTGTAGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACT
|
Task1_train_24239
|
A mutation on Chromosome 17 affecting KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; not provided
|
TGTGACTGGGCTATGAAAGTACAAGGTCTTTAGTCCTGATCACTGGGCACAGTTGGGGAAGGCAGAGACCTAGTGGTGTCCTTTTGGTTACACTGGCATCACTACTTCCTGACAGCGTTTCTCACGTTCATCTGATGGACATCAAATAATTTTGTTGGGGGTGATATGATTTTACTTGGGTGGTGTCAGAAGATATGTCAAGCTATATAACAATTGGGAAGAAGTAATATAGTAACTGGAAGAAAGTAAGAAAAGGCAAAGGTGAGAAGTCAGGTAATTAGAAAATATAAAATTTCCAATTATTATTATTTTGGGGGTTTTATTTGAGATATTCCAGAATTTCCAGGATTGAAATAATTTAAAGCCAGAGAGCTGGGAGCCTTCCACATATTGTGTATCTTAAAGAGTAATATTGGGGATTTACAGACTTTACTCAGTGAATTTACTGACGGTGGTCTGAACATACATGATTAAAAAACTTAGAAAAGGCATGACAATAGTTCTGTCTTCCGAATTTCTGGATACATCAACCTTCAACTGCTATGGGTTACTAATCTTTAATTTTAAAGAGTATTATGTACTTAAGTAAAGATAAATTCTGACAAATTGGGATAGTTTGCATCAGTAAGAAAGTTTATTGAAATTCATTAGTAAATGAGAACAGAAAGTTGTTTTTCTTTCCATTAAAGAACACTTTCTGGTAAAGTGAAAAGAAGAAATACAGAAACCACAAAACACCTTGTAGACACCTTATTTTCAAGGTCTATTTCCATAGACCATCAAGACAGAAGTGTTTTCTTGGAGACTTTGTTTTCCATGCATCTGTAAATAATGGTCTGTGTGAAGGGAGACTCTTTCCTCTTGATGCAGTTTAATAGTAGTGTTTCTTGGTTTCTGATTCAACCATAGATGAAAGAACTCTACCGTCGGGCGCCACCTCTTCAATAATTGTCTTGATTACTCTGGTTTTGTTAGTATCTGTGTGAATGATGGAAAAAAAATTTTAAACAGTCTGTAGGGATCCTTAGTAATTAACAAGCAAATATTGTAAAAAGAAGGAAATTTCAACTTTACATTGTTAAGCCCAAAAAAATGCTTAAGGTATGACATTTTGATCATGCCATTTTTCACGGCTGGTGTTAAGAGTAGTTTGTGAACAAATGCAAACGGAACCGTCTCTAAGATTTTTAATTTTTTAAAACAACTCTAGAGCTTAAAGCGCAAAAAAACCATCACAGGAAGTTAAAACTAATTCTGATTACCCCAGCTAGTTTCTGCTGACCTTGGTCCCTTAGATGAAGACTCGCCCACGGACCCGGAAGAGGAGGACTTGTGGCCTCCGCTGGAGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCACCGTAGCCGCCGCTGGAACTGCCGCCGTGGCCGCCGCTGGAGCTTCCGCCCCCGTAGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCTCCGTAGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTGGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCGCCGTAGCCGCCGCCGAAACTTCCGCCGCCGCGTCCGCCGCCTCCGGAACTAAACGGGGTGAGGTCACATTCGGTTATCTCTAACGTTGGAAAACGGTGGGTAGCTTTCCAGTTGCCGTTAATTTAGAAAATAAGCAAAACGTGTTGAAAAAATAAAACCCTGCCAGGTATATATTTTAAAACCCATCCTTTGAAAACAATGTTAAGTTCACAGAACTCTTAAGAATCATTTTGGGCCAAATTCATGAGAAAGTGAGATTGCGGTTGCGTACTCCTTTTTCTGTACTCTACCCTCTCTCCTCCCTTCCTCTCATTCTCTGGCATCTTCTTGGGGTTTAGATAAGCCTTGCTATCTGGAATATTGAATAAAAGAAACTGGGATAACTTTTCATTTTAAAATTTACCTTCCCTCTCCTTCTAGCAGGCTGCGGTAGGTTTGAATTTCATTCTCCAGTCGGATCTTAATATCCAGGAGTTGTTGGTATTCAGTATTCTGGCACTCGGTTTCAGCTCGAATCTGTTGCAACTGTTCTTCCAGAGCGGATATCTGGGCCTGAATCTGTGAGAGCTGCACACAGTAGCGACCTTCTGTTTCTGCCAAGGAGGCTTCCAGGGATTGTTTCTGAAACGGATTTTTTTGTGGCTTAGTGACTTCCTTGTTCAGTTGAGTATGGTGACGCTTATTTGATTATTTAGTAAGGCATTATATAGAAGAATAAGAAAATGAACAGAATTTGTTGTATGTTTAATGGCACCATTTCAGTTTCAGCACTTTTAGATCAACACTAGTAGTACTTTTCCTCCATTAACATGAGCTTCACTTTGTTTTCTCTTTCTTACCTCCAACTCTGCATTTTTTTGTTGCATTGCATATTCTTAGGTGAGCATGAAACTTTGTATGATAAAGTTGAAGTCATTTCATGAGAGTTAACATACCAAGGCCAGTTGGGACTGTAGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGG
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TGTGACTGGGCTATGAAAGTACAAGGTCTTTAGTCCTGATCACTGGGCACAGTTGGGGAAGGCAGAGACCTAGTGGTGTCCTTTTGGTTACACTGGCATCACTACTTCCTGACAGCGTTTCTCACGTTCATCTGATGGACATCAAATAATTTTGTTGGGGGTGATATGATTTTACTTGGGTGGTGTCAGAAGATATGTCAAGCTATATAACAATTGGGAAGAAGTAATATAGTAACTGGAAGAAAGTAAGAAAAGGCAAAGGTGAGAAGTCAGGTAATTAGAAAATATAAAATTTCCAATTATTATTATTTTGGGGGTTTTATTTGAGATATTCCAGAATTTCCAGGATTGAAATAATTTAAAGCCAGAGAGCTGGGAGCCTTCCACATATTGTGTATCTTAAAGAGTAATATTGGGGATTTACAGACTTTACTCAGTGAATTTACTGACGGTGGTCTGAACATACATGATTAAAAAACTTAGAAAAGGCATGACAATAGTTCTGTCTTCCGAATTTCTGGATACATCAACCTTCAACTGCTATGGGTTACTAATCTTTAATTTTAAAGAGTATTATGTACTTAAGTAAAGATAAATTCTGACAAATTGGGATAGTTTGCATCAGTAAGAAAGTTTATTGAAATTCATTAGTAAATGAGAACAGAAAGTTGTTTTTCTTTCCATTAAAGAACACTTTCTGGTAAAGTGAAAAGAAGAAATACAGAAACCACAAAACACCTTGTAGACACCTTATTTTCAAGGTCTATTTCCATAGACCATCAAGACAGAAGTGTTTTCTTGGAGACTTTGTTTTCCATGCATCTGTAAATAATGGTCTGTGTGAAGGGAGACTCTTTCCTCTTGATGCAGTTTAATAGTAGTGTTTCTTGGTTTCTGATTCAACCATAGATGAAAGAACTCTACCGTCGGGCGCCACCTCTTCAATAATTGTCTTGATTACTCTGGTTTTGTTAGTATCTGTGTGAATGATGGAAAAAAAATTTTAAACAGTCTGTAGGGATCCTTAGTAATTAACAAGCAAATATTGTAAAAAGAAGGAAATTTCAACTTTACATTGTTAAGCCCAAAAAAATGCTTAAGGTATGACATTTTGATCATGCCATTTTTCACGGCTGGTGTTAAGAGTAGTTTGTGAACAAATGCAAACGGAACCGTCTCTAAGATTTTTAATTTTTTAAAACAACTCTAGAGCTTAAAGCGCAAAAAAACCATCACAGGAAGTTAAAACTAATTCTGATTACCCCAGCTAGTTTCTGCTGACCTTGGTCCCTTAGATGAAGACTCGCCCACGGACCCGGAAGAGGAGGACTTGTGGCCTCCGCTGGAGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCACCGTAGCCGCCGCTGGAACTGCCGCCGTGGCCGCCGCTGGAGCTTCCGCCCCCGTAGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCTCCGTAGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTGGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCGCCGTAGCCGCCGCCGAAACTTCCGCCGCCGCGTCCGCCGCCTCCGGAACTAAACGGGGTGAGGTCACATTCGGTTATCTCTAACGTTGGAAAACGGTGGGTAGCTTTCCAGTTGCCGTTAATTTAGAAAATAAGCAAAACGTGTTGAAAAAATAAAACCCTGCCAGGTATATATTTTAAAACCCATCCTTTGAAAACAATGTTAAGTTCACAGAACTCTTAAGAATCATTTTGGGCCAAATTCATGAGAAAGTGAGATTGCGGTTGCGTACTCCTTTTTCTGTACTCTACCCTCTCTCCTCCCTTCCTCTCATTCTCTGGCATCTTCTTGGGGTTTAGATAAGCCTTGCTATCTGGAATATTGAATAAAAGAAACTGGGATAACTTTTCATTTTAAAATTTACCTTCCCTCTCCTTCTAGCAGGCTGCGGTAGGTTTGAGTTTCATTCTCCAGTCGGATCTTAATATCCAGGAGTTGTTGGTATTCAGTATTCTGGCACTCGGTTTCAGCTCGAATCTGTTGCAACTGTTCTTCCAGAGCGGATATCTGGGCCTGAATCTGTGAGAGCTGCACACAGTAGCGACCTTCTGTTTCTGCCAAGGAGGCTTCCAGGGATTGTTTCTGAAACGGATTTTTTTGTGGCTTAGTGACTTCCTTGTTCAGTTGAGTATGGTGACGCTTATTTGATTATTTAGTAAGGCATTATATAGAAGAATAAGAAAATGAACAGAATTTGTTGTATGTTTAATGGCACCATTTCAGTTTCAGCACTTTTAGATCAACACTAGTAGTACTTTTCCTCCATTAACATGAGCTTCACTTTGTTTTCTCTTTCTTACCTCCAACTCTGCATTTTTTTGTTGCATTGCATATTCTTAGGTGAGCATGAAACTTTGTATGATAAAGTTGAAGTCATTTCATGAGAGTTAACATACCAAGGCCAGTTGGGACTGTAGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGG
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Task1_train_24240
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A variant on Chromosome 17 in gene KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Epidermolytic hyperkeratosis 2A, autosomal dominant
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ATGAAAGTACAAGGTCTTTAGTCCTGATCACTGGGCACAGTTGGGGAAGGCAGAGACCTAGTGGTGTCCTTTTGGTTACACTGGCATCACTACTTCCTGACAGCGTTTCTCACGTTCATCTGATGGACATCAAATAATTTTGTTGGGGGTGATATGATTTTACTTGGGTGGTGTCAGAAGATATGTCAAGCTATATAACAATTGGGAAGAAGTAATATAGTAACTGGAAGAAAGTAAGAAAAGGCAAAGGTGAGAAGTCAGGTAATTAGAAAATATAAAATTTCCAATTATTATTATTTTGGGGGTTTTATTTGAGATATTCCAGAATTTCCAGGATTGAAATAATTTAAAGCCAGAGAGCTGGGAGCCTTCCACATATTGTGTATCTTAAAGAGTAATATTGGGGATTTACAGACTTTACTCAGTGAATTTACTGACGGTGGTCTGAACATACATGATTAAAAAACTTAGAAAAGGCATGACAATAGTTCTGTCTTCCGAATTTCTGGATACATCAACCTTCAACTGCTATGGGTTACTAATCTTTAATTTTAAAGAGTATTATGTACTTAAGTAAAGATAAATTCTGACAAATTGGGATAGTTTGCATCAGTAAGAAAGTTTATTGAAATTCATTAGTAAATGAGAACAGAAAGTTGTTTTTCTTTCCATTAAAGAACACTTTCTGGTAAAGTGAAAAGAAGAAATACAGAAACCACAAAACACCTTGTAGACACCTTATTTTCAAGGTCTATTTCCATAGACCATCAAGACAGAAGTGTTTTCTTGGAGACTTTGTTTTCCATGCATCTGTAAATAATGGTCTGTGTGAAGGGAGACTCTTTCCTCTTGATGCAGTTTAATAGTAGTGTTTCTTGGTTTCTGATTCAACCATAGATGAAAGAACTCTACCGTCGGGCGCCACCTCTTCAATAATTGTCTTGATTACTCTGGTTTTGTTAGTATCTGTGTGAATGATGGAAAAAAAATTTTAAACAGTCTGTAGGGATCCTTAGTAATTAACAAGCAAATATTGTAAAAAGAAGGAAATTTCAACTTTACATTGTTAAGCCCAAAAAAATGCTTAAGGTATGACATTTTGATCATGCCATTTTTCACGGCTGGTGTTAAGAGTAGTTTGTGAACAAATGCAAACGGAACCGTCTCTAAGATTTTTAATTTTTTAAAACAACTCTAGAGCTTAAAGCGCAAAAAAACCATCACAGGAAGTTAAAACTAATTCTGATTACCCCAGCTAGTTTCTGCTGACCTTGGTCCCTTAGATGAAGACTCGCCCACGGACCCGGAAGAGGAGGACTTGTGGCCTCCGCTGGAGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCACCGTAGCCGCCGCTGGAACTGCCGCCGTGGCCGCCGCTGGAGCTTCCGCCCCCGTAGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCTCCGTAGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTGGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCGCCGTAGCCGCCGCCGAAACTTCCGCCGCCGCGTCCGCCGCCTCCGGAACTAAACGGGGTGAGGTCACATTCGGTTATCTCTAACGTTGGAAAACGGTGGGTAGCTTTCCAGTTGCCGTTAATTTAGAAAATAAGCAAAACGTGTTGAAAAAATAAAACCCTGCCAGGTATATATTTTAAAACCCATCCTTTGAAAACAATGTTAAGTTCACAGAACTCTTAAGAATCATTTTGGGCCAAATTCATGAGAAAGTGAGATTGCGGTTGCGTACTCCTTTTTCTGTACTCTACCCTCTCTCCTCCCTTCCTCTCATTCTCTGGCATCTTCTTGGGGTTTAGATAAGCCTTGCTATCTGGAATATTGAATAAAAGAAACTGGGATAACTTTTCATTTTAAAATTTACCTTCCCTCTCCTTCTAGCAGGCTGCGGTAGGTTTGAATTTCATTCTCCAGTCGGATCTTAATATCCAGGAGTTGTTGGTATTCAGTATTCTGGCACTCGGTTTCAGCTCGAATCTGTTGCAACTGTTCTTCCAGAGCGGATATCTGGGCCTGAATCTGTGAGAGCTGCACACAGTAGCGACCTTCTGTTTCTGCCAAGGAGGCTTCCAGGGATTGTTTCTGAAACGGATTTTTTTGTGGCTTAGTGACTTCCTTGTTCAGTTGAGTATGGTGACGCTTATTTGATTATTTAGTAAGGCATTATATAGAAGAATAAGAAAATGAACAGAATTTGTTGTATGTTTAATGGCACCATTTCAGTTTCAGCACTTTTAGATCAACACTAGTAGTACTTTTCCTCCATTAACATGAGCTTCACTTTGTTTTCTCTTTCTTACCTCCAACTCTGCATTTTTTTGTTGCATTGCATATTCTTAGGTGAGCATGAAACTTTGTATGATAAAGTTGAAGTCATTTCATGAGAGTTAACATACCAAGGCCAGTTGGGACTGTAGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGT
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ATGAAAGTACAAGGTCTTTAGTCCTGATCACTGGGCACAGTTGGGGAAGGCAGAGACCTAGTGGTGTCCTTTTGGTTACACTGGCATCACTACTTCCTGACAGCGTTTCTCACGTTCATCTGATGGACATCAAATAATTTTGTTGGGGGTGATATGATTTTACTTGGGTGGTGTCAGAAGATATGTCAAGCTATATAACAATTGGGAAGAAGTAATATAGTAACTGGAAGAAAGTAAGAAAAGGCAAAGGTGAGAAGTCAGGTAATTAGAAAATATAAAATTTCCAATTATTATTATTTTGGGGGTTTTATTTGAGATATTCCAGAATTTCCAGGATTGAAATAATTTAAAGCCAGAGAGCTGGGAGCCTTCCACATATTGTGTATCTTAAAGAGTAATATTGGGGATTTACAGACTTTACTCAGTGAATTTACTGACGGTGGTCTGAACATACATGATTAAAAAACTTAGAAAAGGCATGACAATAGTTCTGTCTTCCGAATTTCTGGATACATCAACCTTCAACTGCTATGGGTTACTAATCTTTAATTTTAAAGAGTATTATGTACTTAAGTAAAGATAAATTCTGACAAATTGGGATAGTTTGCATCAGTAAGAAAGTTTATTGAAATTCATTAGTAAATGAGAACAGAAAGTTGTTTTTCTTTCCATTAAAGAACACTTTCTGGTAAAGTGAAAAGAAGAAATACAGAAACCACAAAACACCTTGTAGACACCTTATTTTCAAGGTCTATTTCCATAGACCATCAAGACAGAAGTGTTTTCTTGGAGACTTTGTTTTCCATGCATCTGTAAATAATGGTCTGTGTGAAGGGAGACTCTTTCCTCTTGATGCAGTTTAATAGTAGTGTTTCTTGGTTTCTGATTCAACCATAGATGAAAGAACTCTACCGTCGGGCGCCACCTCTTCAATAATTGTCTTGATTACTCTGGTTTTGTTAGTATCTGTGTGAATGATGGAAAAAAAATTTTAAACAGTCTGTAGGGATCCTTAGTAATTAACAAGCAAATATTGTAAAAAGAAGGAAATTTCAACTTTACATTGTTAAGCCCAAAAAAATGCTTAAGGTATGACATTTTGATCATGCCATTTTTCACGGCTGGTGTTAAGAGTAGTTTGTGAACAAATGCAAACGGAACCGTCTCTAAGATTTTTAATTTTTTAAAACAACTCTAGAGCTTAAAGCGCAAAAAAACCATCACAGGAAGTTAAAACTAATTCTGATTACCCCAGCTAGTTTCTGCTGACCTTGGTCCCTTAGATGAAGACTCGCCCACGGACCCGGAAGAGGAGGACTTGTGGCCTCCGCTGGAGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCACCGTAGCCGCCGCTGGAACTGCCGCCGTGGCCGCCGCTGGAGCTTCCGCCCCCGTAGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCTCCGTAGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTGGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCGCCGTAGCCGCCGCCGAAACTTCCGCCGCCGCGTCCGCCGCCTCCGGAACTAAACGGGGTGAGGTCACATTCGGTTATCTCTAACGTTGGAAAACGGTGGGTAGCTTTCCAGTTGCCGTTAATTTAGAAAATAAGCAAAACGTGTTGAAAAAATAAAACCCTGCCAGGTATATATTTTAAAACCCATCCTTTGAAAACAATGTTAAGTTCACAGAACTCTTAAGAATCATTTTGGGCCAAATTCATGAGAAAGTGAGATTGCGGTTGCGTACTCCTTTTTCTGTACTCTACCCTCTCTCCTCCCTTCCTCTCATTCTCTGGCATCTTCTTGGGGTTTAGATAAGCCTTGCTATCTGGAATATTGAATAAAAGAAACTGGGATAACTTTTCATTTTAAAATTTACCTTCCCTCTCCTTCTAGCAGGCTGCGGTAGGTTTGAATTTCATTCTCCTGTCGGATCTTAATATCCAGGAGTTGTTGGTATTCAGTATTCTGGCACTCGGTTTCAGCTCGAATCTGTTGCAACTGTTCTTCCAGAGCGGATATCTGGGCCTGAATCTGTGAGAGCTGCACACAGTAGCGACCTTCTGTTTCTGCCAAGGAGGCTTCCAGGGATTGTTTCTGAAACGGATTTTTTTGTGGCTTAGTGACTTCCTTGTTCAGTTGAGTATGGTGACGCTTATTTGATTATTTAGTAAGGCATTATATAGAAGAATAAGAAAATGAACAGAATTTGTTGTATGTTTAATGGCACCATTTCAGTTTCAGCACTTTTAGATCAACACTAGTAGTACTTTTCCTCCATTAACATGAGCTTCACTTTGTTTTCTCTTTCTTACCTCCAACTCTGCATTTTTTTGTTGCATTGCATATTCTTAGGTGAGCATGAAACTTTGTATGATAAAGTTGAAGTCATTTCATGAGAGTTAACATACCAAGGCCAGTTGGGACTGTAGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGT
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Task1_train_24241
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A variant found in Chromosome 17 affects KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Epidermolytic hyperkeratosis 1
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AAGGTCTTTAGTCCTGATCACTGGGCACAGTTGGGGAAGGCAGAGACCTAGTGGTGTCCTTTTGGTTACACTGGCATCACTACTTCCTGACAGCGTTTCTCACGTTCATCTGATGGACATCAAATAATTTTGTTGGGGGTGATATGATTTTACTTGGGTGGTGTCAGAAGATATGTCAAGCTATATAACAATTGGGAAGAAGTAATATAGTAACTGGAAGAAAGTAAGAAAAGGCAAAGGTGAGAAGTCAGGTAATTAGAAAATATAAAATTTCCAATTATTATTATTTTGGGGGTTTTATTTGAGATATTCCAGAATTTCCAGGATTGAAATAATTTAAAGCCAGAGAGCTGGGAGCCTTCCACATATTGTGTATCTTAAAGAGTAATATTGGGGATTTACAGACTTTACTCAGTGAATTTACTGACGGTGGTCTGAACATACATGATTAAAAAACTTAGAAAAGGCATGACAATAGTTCTGTCTTCCGAATTTCTGGATACATCAACCTTCAACTGCTATGGGTTACTAATCTTTAATTTTAAAGAGTATTATGTACTTAAGTAAAGATAAATTCTGACAAATTGGGATAGTTTGCATCAGTAAGAAAGTTTATTGAAATTCATTAGTAAATGAGAACAGAAAGTTGTTTTTCTTTCCATTAAAGAACACTTTCTGGTAAAGTGAAAAGAAGAAATACAGAAACCACAAAACACCTTGTAGACACCTTATTTTCAAGGTCTATTTCCATAGACCATCAAGACAGAAGTGTTTTCTTGGAGACTTTGTTTTCCATGCATCTGTAAATAATGGTCTGTGTGAAGGGAGACTCTTTCCTCTTGATGCAGTTTAATAGTAGTGTTTCTTGGTTTCTGATTCAACCATAGATGAAAGAACTCTACCGTCGGGCGCCACCTCTTCAATAATTGTCTTGATTACTCTGGTTTTGTTAGTATCTGTGTGAATGATGGAAAAAAAATTTTAAACAGTCTGTAGGGATCCTTAGTAATTAACAAGCAAATATTGTAAAAAGAAGGAAATTTCAACTTTACATTGTTAAGCCCAAAAAAATGCTTAAGGTATGACATTTTGATCATGCCATTTTTCACGGCTGGTGTTAAGAGTAGTTTGTGAACAAATGCAAACGGAACCGTCTCTAAGATTTTTAATTTTTTAAAACAACTCTAGAGCTTAAAGCGCAAAAAAACCATCACAGGAAGTTAAAACTAATTCTGATTACCCCAGCTAGTTTCTGCTGACCTTGGTCCCTTAGATGAAGACTCGCCCACGGACCCGGAAGAGGAGGACTTGTGGCCTCCGCTGGAGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCACCGTAGCCGCCGCTGGAACTGCCGCCGTGGCCGCCGCTGGAGCTTCCGCCCCCGTAGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCTCCGTAGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTGGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCGCCGTAGCCGCCGCCGAAACTTCCGCCGCCGCGTCCGCCGCCTCCGGAACTAAACGGGGTGAGGTCACATTCGGTTATCTCTAACGTTGGAAAACGGTGGGTAGCTTTCCAGTTGCCGTTAATTTAGAAAATAAGCAAAACGTGTTGAAAAAATAAAACCCTGCCAGGTATATATTTTAAAACCCATCCTTTGAAAACAATGTTAAGTTCACAGAACTCTTAAGAATCATTTTGGGCCAAATTCATGAGAAAGTGAGATTGCGGTTGCGTACTCCTTTTTCTGTACTCTACCCTCTCTCCTCCCTTCCTCTCATTCTCTGGCATCTTCTTGGGGTTTAGATAAGCCTTGCTATCTGGAATATTGAATAAAAGAAACTGGGATAACTTTTCATTTTAAAATTTACCTTCCCTCTCCTTCTAGCAGGCTGCGGTAGGTTTGAATTTCATTCTCCAGTCGGATCTTAATATCCAGGAGTTGTTGGTATTCAGTATTCTGGCACTCGGTTTCAGCTCGAATCTGTTGCAACTGTTCTTCCAGAGCGGATATCTGGGCCTGAATCTGTGAGAGCTGCACACAGTAGCGACCTTCTGTTTCTGCCAAGGAGGCTTCCAGGGATTGTTTCTGAAACGGATTTTTTTGTGGCTTAGTGACTTCCTTGTTCAGTTGAGTATGGTGACGCTTATTTGATTATTTAGTAAGGCATTATATAGAAGAATAAGAAAATGAACAGAATTTGTTGTATGTTTAATGGCACCATTTCAGTTTCAGCACTTTTAGATCAACACTAGTAGTACTTTTCCTCCATTAACATGAGCTTCACTTTGTTTTCTCTTTCTTACCTCCAACTCTGCATTTTTTTGTTGCATTGCATATTCTTAGGTGAGCATGAAACTTTGTATGATAAAGTTGAAGTCATTTCATGAGAGTTAACATACCAAGGCCAGTTGGGACTGTAGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACA
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AAGGTCTTTAGTCCTGATCACTGGGCACAGTTGGGGAAGGCAGAGACCTAGTGGTGTCCTTTTGGTTACACTGGCATCACTACTTCCTGACAGCGTTTCTCACGTTCATCTGATGGACATCAAATAATTTTGTTGGGGGTGATATGATTTTACTTGGGTGGTGTCAGAAGATATGTCAAGCTATATAACAATTGGGAAGAAGTAATATAGTAACTGGAAGAAAGTAAGAAAAGGCAAAGGTGAGAAGTCAGGTAATTAGAAAATATAAAATTTCCAATTATTATTATTTTGGGGGTTTTATTTGAGATATTCCAGAATTTCCAGGATTGAAATAATTTAAAGCCAGAGAGCTGGGAGCCTTCCACATATTGTGTATCTTAAAGAGTAATATTGGGGATTTACAGACTTTACTCAGTGAATTTACTGACGGTGGTCTGAACATACATGATTAAAAAACTTAGAAAAGGCATGACAATAGTTCTGTCTTCCGAATTTCTGGATACATCAACCTTCAACTGCTATGGGTTACTAATCTTTAATTTTAAAGAGTATTATGTACTTAAGTAAAGATAAATTCTGACAAATTGGGATAGTTTGCATCAGTAAGAAAGTTTATTGAAATTCATTAGTAAATGAGAACAGAAAGTTGTTTTTCTTTCCATTAAAGAACACTTTCTGGTAAAGTGAAAAGAAGAAATACAGAAACCACAAAACACCTTGTAGACACCTTATTTTCAAGGTCTATTTCCATAGACCATCAAGACAGAAGTGTTTTCTTGGAGACTTTGTTTTCCATGCATCTGTAAATAATGGTCTGTGTGAAGGGAGACTCTTTCCTCTTGATGCAGTTTAATAGTAGTGTTTCTTGGTTTCTGATTCAACCATAGATGAAAGAACTCTACCGTCGGGCGCCACCTCTTCAATAATTGTCTTGATTACTCTGGTTTTGTTAGTATCTGTGTGAATGATGGAAAAAAAATTTTAAACAGTCTGTAGGGATCCTTAGTAATTAACAAGCAAATATTGTAAAAAGAAGGAAATTTCAACTTTACATTGTTAAGCCCAAAAAAATGCTTAAGGTATGACATTTTGATCATGCCATTTTTCACGGCTGGTGTTAAGAGTAGTTTGTGAACAAATGCAAACGGAACCGTCTCTAAGATTTTTAATTTTTTAAAACAACTCTAGAGCTTAAAGCGCAAAAAAACCATCACAGGAAGTTAAAACTAATTCTGATTACCCCAGCTAGTTTCTGCTGACCTTGGTCCCTTAGATGAAGACTCGCCCACGGACCCGGAAGAGGAGGACTTGTGGCCTCCGCTGGAGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCACCGTAGCCGCCGCTGGAACTGCCGCCGTGGCCGCCGCTGGAGCTTCCGCCCCCGTAGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCTCCGTAGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTGGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCGCCGTAGCCGCCGCCGAAACTTCCGCCGCCGCGTCCGCCGCCTCCGGAACTAAACGGGGTGAGGTCACATTCGGTTATCTCTAACGTTGGAAAACGGTGGGTAGCTTTCCAGTTGCCGTTAATTTAGAAAATAAGCAAAACGTGTTGAAAAAATAAAACCCTGCCAGGTATATATTTTAAAACCCATCCTTTGAAAACAATGTTAAGTTCACAGAACTCTTAAGAATCATTTTGGGCCAAATTCATGAGAAAGTGAGATTGCGGTTGCGTACTCCTTTTTCTGTACTCTACCCTCTCTCCTCCCTTCCTCTCATTCTCTGGCATCTTCTTGGGGTTTAGATAAGCCTTGCTATCTGGAATATTGAATAAAAGAAACTGGGATAACTTTTCATTTTAAAATTTACCTTCCCTCTCCTTCTAGCAGGCTGCGGTAGGTTTGAATTTCATTCTCCAGTCGGATCTCAATATCCAGGAGTTGTTGGTATTCAGTATTCTGGCACTCGGTTTCAGCTCGAATCTGTTGCAACTGTTCTTCCAGAGCGGATATCTGGGCCTGAATCTGTGAGAGCTGCACACAGTAGCGACCTTCTGTTTCTGCCAAGGAGGCTTCCAGGGATTGTTTCTGAAACGGATTTTTTTGTGGCTTAGTGACTTCCTTGTTCAGTTGAGTATGGTGACGCTTATTTGATTATTTAGTAAGGCATTATATAGAAGAATAAGAAAATGAACAGAATTTGTTGTATGTTTAATGGCACCATTTCAGTTTCAGCACTTTTAGATCAACACTAGTAGTACTTTTCCTCCATTAACATGAGCTTCACTTTGTTTTCTCTTTCTTACCTCCAACTCTGCATTTTTTTGTTGCATTGCATATTCTTAGGTGAGCATGAAACTTTGTATGATAAAGTTGAAGTCATTTCATGAGAGTTAACATACCAAGGCCAGTTGGGACTGTAGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACA
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Task1_train_24242
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Gene KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Epidermolytic hyperkeratosis 2A, autosomal dominant
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AGTTGGGACTGTAGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAG
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AGTTGGGACTGTAGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCGAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAG
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Task1_train_24243
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This sequence variant lies in KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Epidermolytic hyperkeratosis 2A, autosomal dominant
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GGGACTGTAGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGT
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GGGACTGTAGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTCGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGT
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Task1_train_24244
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This variant affects gene KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; not provided
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GTAGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTAT
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GTAGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGGCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTAT
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Task1_train_24245
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A mutation in KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Congenital reticular ichthyosiform erythroderma
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AGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTG
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AGTTCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCGGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTG
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Task1_train_24246
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The gene KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; not provided
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TCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTA
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TCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGAGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTA
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Task1_train_24247
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A change on Chromosome 17 affects gene KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Epidermolytic ichthyosis
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TCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTA
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TCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGTGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTA
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Task1_train_24248
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Here is a mutation in KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Epidermolytic hyperkeratosis 2A, autosomal dominant
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TCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTA
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TCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGTGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTA
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Task1_train_24249
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This is a variant in KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; Epidermolytic hyperkeratosis 1
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TCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTA
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TCTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGTGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTA
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Task1_train_24250
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The variant affects gene KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Epidermolytic hyperkeratosis 2A, autosomal dominant
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CTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTAT
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CTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCAGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTAT
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Task1_train_24251
|
Given this context: Chromosome 17, gene KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Congenital reticular ichthyosiform erythroderma
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CTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTAT
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CTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCAGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTAT
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Task1_train_24252
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This alteration in KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Epidermolytic ichthyosis
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CTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTAT
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CTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCAGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTAT
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Task1_train_24253
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This genomic variant is located on Chromosome 17, within the KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Annular epidermolytic ichthyosis
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CTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTAT
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CTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCAGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTAT
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Task1_train_24254
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The gene KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Autosomal dominant epidermolytic ichthyosis
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CTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTAT
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CTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCAGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTAT
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Task1_train_24255
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This mutation is located in gene KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Epidermolytic nevus
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CTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTAT
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CTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCAGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTAT
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Task1_train_24256
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A genetic alteration is present in KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; KRT10-related disorder
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CTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTAT
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CTATCTCCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCAGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTAT
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Task1_train_24257
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A change on Chromosome 17 affects gene KRT10-AS1, KRT10 (KRT10 antisense RNA 1| keratin 10). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Epidermolytic hyperkeratosis 2A, autosomal dominant
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CCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTATTTCTAA
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CCAGAGCTTGTACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATGCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTATTTCTAA
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Task1_train_24258
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The variant affects gene KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Epidermolytic hyperkeratosis 2A, autosomal dominant
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ACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTATTTCTAATTTATAGAAGA
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ACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCCTGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTATTTCTAATTTATAGAAGA
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Task1_train_24259
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The gene KRT10, KRT10-AS1 (keratin 10| KRT10 antisense RNA 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not provided
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ACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCATGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTATTTCTAATTTATAGAAGA
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ACATTACGTCTCAATTCAGTAATCTCAGATTTATAGCTGGATATCTGTTCAATGTTATTATCAATTTCTGTAGTCAGTTCCTTGCTCTAGAGTATTAAAAACAAGGAAAAGGGTGAGGAAATTCTGAAATGATAAAACCTCCATGAGTTTCACTATAAGGAAGATTACTTTACCTTTTCATTGAACCAGGCTTCAGCATCTTTGCGGTTTTGTTCAGCAAGTTGTTCATATTGGCTTCTCATGTTATTCAGAAGTTGAGTCAGATCAACACCCGGGGCAGCATTCATTTCCACATTCACATCACCAGTGGACACATTTCGAAGGTCTTTCATTTCCTGTTTGAGGAACAGAAAGATTTATTGGCTACACGAGGACCATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCATGTACAGTTCTCTTAGAAGTAATAGTGGTTTAATGGAAAAAACCTTAGCAGTTACTTTAAAATGCATTTTCTTCCTTTAATATTGCCAAAAAGGTAACACTGACATGGAAAATTTCTCAGATAACTCCAATACTATTTAACTTTGGGTGAATTCAGAAAAATGTAAATGTTATTGAGGGCATCCCAAGTCATTGTTAAAAACCACTGATGTATTCGTTGTGATAGTATTATACAACGATCACTTAACTTACTTCAGCCTGAAGTCATCAGCTGCCAGCCTGGCATTGTCGATCTGAAGCAGGATGTTGGCATTATCAGTTGTTAGGTTGAGAATCTGGAGGGAGAGGCACAGTTATTTGAGAAGAGGTCAGATGCAGATATGGCTTTTGTAGTGACATAGATGCACTCTGCACTTTTATGTTGTTCTCTTACAAAATCTTGGGAAAATTTTTTATTTTAAATATGAAATATTGCAGGCTTACCCATATACTTAACTTTGAATTATTTGTTCTCTTGGAATTTCTCCAGTCTTGTATTTCTGTACACGAATTATTCCTTTCTGAAAACTAACTGGAATTATATAGATGTATTCCTGTAAGTGTGCCCTCCTCTTTTAGACTATGTGATTTCCATGTATTTCAGCCATGCTTTGGCTGACTCACACCTGCATTTGTTTAACTCATGATAAATACTAATAAATAAATACACTCTGAACTGGTACACAATAGGTACAATTCAGAAATTCCTTAGAGGCAAGCAGTGTCCCATTTTCATACTGGAAAATTTATTTTTCTTGCCATGTTGGTACTGAATATGGCTTGTTATCAGTCTGAATAACATTTTGTTCTGATTCATATCATGATTTTTTTTTTCAGTTTCTACATTTGTAAATAGCCTAGCATATTTTAACTGTGGACTCATTGTATGCTCATTAAAACCTCAAAAGTGCTTAGTAAATCTCCCATCCTCTTAAGACAAGTAGCACACTTGCTGGATGAAGATTGCCATGACCATAGTTTCACAGATGTTTATCTTTGATGAGACTGGGTTATTTTTGAAGGAAGAAAGTAACATGGGTAAGCATAGTGAACAGCCACATTGTGCTTAATTTAAGATTCATCTGTCTGGATTACATGGACAAGATACTTAAAGCTGGATTTAAAAATACCTCTTACCTGATTTTTAAGGTCATCGATGGTTTTGTAGTATTTGCTGTAGTCACGAGGCTCCCCCTGATGTGAGTTGCCATGCTTTTCATACCACTCCTTGATTTTGCCTTCCAGCTCATAGTTTGATTCTTCCAGAGCCCGAACTTTGTCCAAGTAGGAAGCCAGGCGGTCATTCAGATTCTGCGTGGTTACTTTTTCATTTCCAGAGAGAAGGCCACCATCTCCTCCAAATCCACCACCAAAGCCTCCTCCAAAGCCGCCTCCACCAAAGCCGCCTCCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTCCCACCAAAGCTGCTACTTCCATAGCTTCCACGAAAGCTACCTCCACCAAAACCTCCTAATCCTCCATAGCCACCTGATGAGCCCCCAAAGCAGCCCCCACCAGAGCTCCCACGGCTAAAAGAGCCACCACTGAACCCCCCTGAGCTAAATCCTCCACCAAGGGAGCCTTTGCTGCTAGAAATTCTTAGGGATGACACTCCTCCTCCTCCTCCACATCCTCCTCCTCCTCCTCCTCCTCCACTGCGGGAGGAAGAGTAGTGCTTGCTTGAGCTGTATCGAACAGACATGGTGATGCTGTTTAGCCCAGGGAGTGCCTGCTACCAAGGACAGTGACAAGCCTTTATATACTGAGAGGGTGTGTCCACATGTGTTAGAGTTTGCTTACTTACATTGTTTTCTTTTTGCCAACTTAGCATCTTTGGCTTATGATTGCATAAATTATCTTCAGTAATAACCAATCCTAATATGTACAATTTTGAATTTGCCCTAAGAATAAACAGGAGGTTTGCTATGTTGAAATTGAAAATGGGTGGAGTTCAGATGAGCATGTTTTATTATGCTTTTCACCTGTTGAAGAACATTGAGCAACCGTTAAGATCCATTTTTCTCAGCACTAATTCAGGTTGCATAGAATGTTTGCAAAGTTTAGAAAAAAAAGTTTCAGCTACAAAATTATAGTTAAAATAAGATTTTTCAAATTCATGTTTTAAACAGTTTTAATTGGAGCAACAAATAGCATAAAGTCTGGCAGGATCATGCTACAATAAGGTTCTTGTAGACAACTGTAGGGAATCAAAAAGAAAAAGTTTCTAAAAATTTAACTAGCATCAATAGTTGCCACACATAAAACATTAAAGCCATAAAACCACAATTTAGGAGATTGTGTTTGTAGGAGATCTTTTAATTTATTTGGCAAATGAGAGTATATTGATATTTTGCCTAAGAAAGTGGAAGTAATGATTTTAGAATTTTCTAATTAATGATGGCATTATTTTTAACATTAAAAAATCTGAAATCATAAAGTTATCCTGGATTATTTTGCACTTTTAAATTCATCATAGTTAAGGTTTCTGTGAAGACCATAATAATGCAGAAAATCTGCATTATTTTCTTAGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCTGATTGAGTAAAAAGGGAAAATTTGGATATGTTATGATTGCAAGTAAAAATTTGCTTGCAAAAATGTAAATCTATATTAGAGAATGATACTTGCACCAAATATTATGAACTAGACTGTGCACATGTGTTCCCAAGCTAGGTTCAGTTTCTCAATAAAAACAACACATTTTCTTGGATATACTGTGTACAGAATTTGGTATAACAGTTTGTCTAGTGAAGTAAATTGGGATTTTGGTACATTGTATAAGATTATATCTACCCATAGGCTATGACATTGCTGTTGTTTGGATGTATATATTCATACATGTTTTACAATTATGTAGTGCTGTTTGTGATACTGTGCTTTAAAAATTTCTAGAACAAGCTGTTGAGATAGGAATGGTGGTTATTATTATTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTAGACGGAGGCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATACCTGGCTAATTTTTTGTCTTTTTGGTAGAGACAGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGGTTATTGTTATTTCTAATTTATAGAAGA
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Task1_train_24260
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The gene KRT12 (keratin 12), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Corneal dystrophy, Meesmann, 1
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TGGGGGTCTCTCTATGTTGTCCAGGCTGGTCTTGAACTCCGGGCCTCAAGCAATCATCTTGCCTCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGTCATTACTCCCAGCCTCTATTTTATTAGTAGTATTTCAAAAACTTCTCTCTATGCTCTTGACATTCTTGTTGGAATCAAGGCATACATTTCACATTATTACCATTCATCTTTTATTACAATTAACTCTATTAAAACAATACTACTTGATTAAAGCTCTATGATTAAAAAATATTCCGGGTTACCAGAAGAAAGTTCGTTAAAAGACTACTCCAGGTCCAGAAGGATATAAGGTAATTTTGATTTGTTACAAAGACCAACATGACCAAAATGACTTGTGACTGAATATTGTTTCAGAAGGGCAAAAAGGATTCAATGTGAATAGGGAATCCAAAGAAAATGGAACAGACAAAAATAGGGATTGAAGTAATACAGCATGTTACTCTGAAAGGAATAATTTCTACTTGTAAATTTCTTGTTCCTAAGGAACCAATCATGGGGCAGATCTTGTGAAATTTTACATTAGTTCTTCAATTTCCTGAACTTGAGATGAGACCACCTCACCATTCACCATCTCCTGCACAACTGTCTTGATTTTTCGGGTTTTGGTTGGGTCTAAAGATAAAAATGGAATAAGGGGGCAAGAGTTAGTGTTTCAAATATTAATCCAACACTGGTTGTTTAATGTAGGCTTCTAAATTAAGCATTGGTTGATACAATCCATCTAATTAAACTTTCAAAAGTAAATTTTACTTCTCAAAAATGTGTTTTAGCCAATGACAATGAAATGTATTCAGTGTTGCCTTGTACATATATGAAAACTTTTTTTAAGAAAACATTTCAAAGGTGGTTATGGTGATCATAATACCTTGCAGCAGAGTAGGTTTTTTCCCTTCTGCTTTGCCATTTTTTTTATTTTTTAATTTTAATTTTAATTTTCTTAAAGACAGGGTCTGGCTCTGTTGCCCAGGTAGGAATGCAGTGGCATGATCATAGCTCACTATAACCTCTAACTCCCGGGCTCAAGCGGTCCTCCTGCCTCAGCCTCCAGAGTAGCCGAGATCACAGGTATACACCACCACACCCAGCTATTTTTTTTCTTAAGTTTTTTGTAGAGATGGGGTCTCGCTATTTGCCCAGGTGGGTCACGAACTCCTGGCCTCAAGCGATCCTCCCACCTCAGGTTCCCGAAGCTATGAGGTTACAGGCATGAGCCACCATGCCCAGGCCCCCAAAAGTTTTAATATGGTATAGACTACTCATTTTGTGCAGGAATGCATAAATGTTTTTCCTTGGCTCAGAATATAAATATGCTTTAAATTAAAATTAATAATAATGCAGTAGTCAATGAGGTCTTACAGGTTTTGCATTAATAAATGTGATTCCGACTTATTCTAAGTGATTCTAGGGTTTCTGCATACCTTTAGAGGAATCAGTTGACTGTGCTTGTGATTTGGAGTCTGTCACAAATAAACTTTCCTCCAAACCATCACTGTAAGAAAACAAAGGAGATGACCTCAAAAAGTGAAACAACCTGGCTTTTAATGGAAGATCTGGTCTGAGAAATTAGATTTCCCAATTTGTAGGCCTGAGTTCTTCCAACTAGTGCAGACTCTGATCACTTTTGGAAAGCTTGTTAGAGTAGGTGGTTCAGGTGGCTACTATGTGTCCTTCTTATCATCAGGTCTTTGATATCAGAAATTGAGTAAGTGACTTTTATAGTACAGGGAGTACTCATTTACAAACTGTTTCTGACCGTGGTGCCTTTGTTCTTTGCAGCATTTTATGAATTATCAAGTAAGATAATGGGTGAAAACACTTTGCAAAGTGTAGAGCATTTAGTAAATCCCAGGCATATCTTTACTAGACTTGTGTTTGTTTGTTTGCTTTTCTGTCAACTAAAACCCCATTCCTTCTATTTCTGCTGCCCACTCTTGGTCAGCCCCTGAAGGTGTTTACAGCCTCCGTTGTCTGCTCACCCTTGGGCCTCCCCGTCCAGCAGGCGGCGGTAGGTCTCAATCTCCAGCTCCAGGCGGGCCTTGACATTCAGCAGCCGCTGGTGGTCCACGTTCTGGCGCTCTGCGTCCGCGCGCACCTGGAGCAGCTGTGCCTCCAGGTTGCTGATGAGCTGCTGCACCTGGGACAGCTGCGCGCAGTAATCGCCCTCGGCTTCGGCCAAGGAGTCCTCCAGGGATTTCTTCTGCACGTGGGAGGGAAATGGCATAGAAATAACGATGGAGGGGACCGAAAAGAGGAGGGTAGCCAACGGCTAATGTAATTTGGATGCAGCATTTTCTTTGGAAGTCCAAAGGATGCTACGTCTGTTTGCGCACGAGCCTACCATGGCGAGCTGGGACTGTAGCTCGATCTCCAGGTTCTGAAAGGCGCGACGCAGGTCGGTGACCTCGCTCTTGCTGGACTGAAGCTGCTCGGTGTTGGTGCTAATCTCCTTACGGAGCTCCCCGCTCTGCAACAGCAAAGACAGCCAGGGGGCTCGAGCGCTGAGCTCGTTCGCAGGCCTTTCTGTGAATGTATCAAAGCCTTTGTTGTTTGTGTTACCTTTTCAATGAACCAGGCTTCAGCGTCCTTCCGATTCTGCTCAGCGATGGTTTCATACTGCGCCCGCATATCATTGAGGAGCCTGGTGAGGTCCACTCCGGGGGCAGCGTCCATTTCTACGCTGACCTCGCCTGGGCCGCCCACCCGGAAGCTTTGGAGCTCCTGGGGACAGCATGTGAGAGAGAGGGGCACAGGGGTCCATTGTGACTTTCGTGGGCCCTGGATACTTTTGTCCTCTTGGGCCCCTTCCTACACACACACACACACACACACACACACACACACACACTTAAAAATTCTATCTTATGACTGTTGGTATAAAGACAAATATATTAATGTAATACATTAAAACTTTTTTAACCTCAAAATTCATATTTTTCTTCTGATATTACAAGAACTTAAGACATATTCATGGGTCCCTGAAATTACCACAGACCCTGGGAGCAGTGCCTGCTGTGCCTAATGGGTAAGTTGGCTCTGCTTCTTGAGGGACCACGACCTTCACGTGAAAGGAGGCCTGGCGTACACTCACTGGGGTTTTCACCTACAGCTGCCAAACCGAGGGCTGCAGACAGTACCTGGGCTTGCACGCTGTTTGTGCCACAATCATCGAAAATCTAGTAGAAACTTCCTATTGCCAGCATCCCTTCCCTACCTAGCCTCCAATATGCACCATGGCACCTCAGAGTTTTCTGGTGTGCATTATGCTAAGTATAACCAGTTTCTCTGACATATAAAACATTATATATTATTGGTAGACTTTTGTTTTAACTTTTAAAATACTCAGTCTTTTTAAAATCACTGAATTAGGACTGTTAGCATTCCTATTGTCATTGCCTTATAATGAAAATGACAAAATCAGAAAGTGCCTCAAATTTGTTGAGCCTTAGCAGGAACCACCATCACTACTACCAACACACACACATCACACACACACATACCACACACATCACACAGAAATCTAAAACAAATGGCCATTTTAACAGGGAGACAATGTATTCTCCATACTTGTCCTGACTCCAGATTTCTAAATTTGAAATTGTAATTTTTGGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGC
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TGGGGGTCTCTCTATGTTGTCCAGGCTGGTCTTGAACTCCGGGCCTCAAGCAATCATCTTGCCTCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGTCATTACTCCCAGCCTCTATTTTATTAGTAGTATTTCAAAAACTTCTCTCTATGCTCTTGACATTCTTGTTGGAATCAAGGCATACATTTCACATTATTACCATTCATCTTTTATTACAATTAACTCTATTAAAACAATACTACTTGATTAAAGCTCTATGATTAAAAAATATTCCGGGTTACCAGAAGAAAGTTCGTTAAAAGACTACTCCAGGTCCAGAAGGATATAAGGTAATTTTGATTTGTTACAAAGACCAACATGACCAAAATGACTTGTGACTGAATATTGTTTCAGAAGGGCAAAAAGGATTCAATGTGAATAGGGAATCCAAAGAAAATGGAACAGACAAAAATAGGGATTGAAGTAATACAGCATGTTACTCTGAAAGGAATAATTTCTACTTGTAAATTTCTTGTTCCTAAGGAACCAATCATGGGGCAGATCTTGTGAAATTTTACATTAGTTCTTCAATTTCCTGAACTTGAGATGAGACCACCTCACCATTCACCATCTCCTGCACAACTGTCTTGATTTTTCGGGTTTTGGTTGGGTCTAAAGATAAAAATGGAATAAGGGGGCAAGAGTTAGTGTTTCAAATATTAATCCAACACTGGTTGTTTAATGTAGGCTTCTAAATTAAGCATTGGTTGATACAATCCATCTAATTAAACTTTCAAAAGTAAATTTTACTTCTCAAAAATGTGTTTTAGCCAATGACAATGAAATGTATTCAGTGTTGCCTTGTACATATATGAAAACTTTTTTTAAGAAAACATTTCAAAGGTGGTTATGGTGATCATAATACCTTGCAGCAGAGTAGGTTTTTTCCCTTCTGCTTTGCCATTTTTTTTATTTTTTAATTTTAATTTTAATTTTCTTAAAGACAGGGTCTGGCTCTGTTGCCCAGGTAGGAATGCAGTGGCATGATCATAGCTCACTATAACCTCTAACTCCCGGGCTCAAGCGGTCCTCCTGCCTCAGCCTCCAGAGTAGCCGAGATCACAGGTATACACCACCACACCCAGCTATTTTTTTTCTTAAGTTTTTTGTAGAGATGGGGTCTCGCTATTTGCCCAGGTGGGTCACGAACTCCTGGCCTCAAGCGATCCTCCCACCTCAGGTTCCCGAAGCTATGAGGTTACAGGCATGAGCCACCATGCCCAGGCCCCCAAAAGTTTTAATATGGTATAGACTACTCATTTTGTGCAGGAATGCATAAATGTTTTTCCTTGGCTCAGAATATAAATATGCTTTAAATTAAAATTAATAATAATGCAGTAGTCAATGAGGTCTTACAGGTTTTGCATTAATAAATGTGATTCCGACTTATTCTAAGTGATTCTAGGGTTTCTGCATACCTTTAGAGGAATCAGTTGACTGTGCTTGTGATTTGGAGTCTGTCACAAATAAACTTTCCTCCAAACCATCACTGTAAGAAAACAAAGGAGATGACCTCAAAAAGTGAAACAACCTGGCTTTTAATGGAAGATCTGGTCTGAGAAATTAGATTTCCCAATTTGTAGGCCTGAGTTCTTCCAACTAGTGCAGACTCTGATCACTTTTGGAAAGCTTGTTAGAGTAGGTGGTTCAGGTGGCTACTATGTGTCCTTCTTATCATCAGGTCTTTGATATCAGAAATTGAGTAAGTGACTTTTATAGTACAGGGAGTACTCATTTACAAACTGTTTCTGACCGTGGTGCCTTTGTTCTTTGCAGCATTTTATGAATTATCAAGTAAGATAATGGGTGAAAACACTTTGCAAAGTGTAGAGCATTTAGTAAATCCCAGGCATATCTTTACTAGACTTGTGTTTGTTTGTTTGCTTTTCTGTCAACTAAAACCCCATTCCTTCTATTTCTGCTGCCCACTCTTGGTCAGCCCCTGAAGGTGTTTACAGCCTCCGTTGTCTGCTCACCCTTGGGCCTCCCCGTCCAGCAGGCGGCGGTCGGTCTCAATCTCCAGCTCCAGGCGGGCCTTGACATTCAGCAGCCGCTGGTGGTCCACGTTCTGGCGCTCTGCGTCCGCGCGCACCTGGAGCAGCTGTGCCTCCAGGTTGCTGATGAGCTGCTGCACCTGGGACAGCTGCGCGCAGTAATCGCCCTCGGCTTCGGCCAAGGAGTCCTCCAGGGATTTCTTCTGCACGTGGGAGGGAAATGGCATAGAAATAACGATGGAGGGGACCGAAAAGAGGAGGGTAGCCAACGGCTAATGTAATTTGGATGCAGCATTTTCTTTGGAAGTCCAAAGGATGCTACGTCTGTTTGCGCACGAGCCTACCATGGCGAGCTGGGACTGTAGCTCGATCTCCAGGTTCTGAAAGGCGCGACGCAGGTCGGTGACCTCGCTCTTGCTGGACTGAAGCTGCTCGGTGTTGGTGCTAATCTCCTTACGGAGCTCCCCGCTCTGCAACAGCAAAGACAGCCAGGGGGCTCGAGCGCTGAGCTCGTTCGCAGGCCTTTCTGTGAATGTATCAAAGCCTTTGTTGTTTGTGTTACCTTTTCAATGAACCAGGCTTCAGCGTCCTTCCGATTCTGCTCAGCGATGGTTTCATACTGCGCCCGCATATCATTGAGGAGCCTGGTGAGGTCCACTCCGGGGGCAGCGTCCATTTCTACGCTGACCTCGCCTGGGCCGCCCACCCGGAAGCTTTGGAGCTCCTGGGGACAGCATGTGAGAGAGAGGGGCACAGGGGTCCATTGTGACTTTCGTGGGCCCTGGATACTTTTGTCCTCTTGGGCCCCTTCCTACACACACACACACACACACACACACACACACACACACTTAAAAATTCTATCTTATGACTGTTGGTATAAAGACAAATATATTAATGTAATACATTAAAACTTTTTTAACCTCAAAATTCATATTTTTCTTCTGATATTACAAGAACTTAAGACATATTCATGGGTCCCTGAAATTACCACAGACCCTGGGAGCAGTGCCTGCTGTGCCTAATGGGTAAGTTGGCTCTGCTTCTTGAGGGACCACGACCTTCACGTGAAAGGAGGCCTGGCGTACACTCACTGGGGTTTTCACCTACAGCTGCCAAACCGAGGGCTGCAGACAGTACCTGGGCTTGCACGCTGTTTGTGCCACAATCATCGAAAATCTAGTAGAAACTTCCTATTGCCAGCATCCCTTCCCTACCTAGCCTCCAATATGCACCATGGCACCTCAGAGTTTTCTGGTGTGCATTATGCTAAGTATAACCAGTTTCTCTGACATATAAAACATTATATATTATTGGTAGACTTTTGTTTTAACTTTTAAAATACTCAGTCTTTTTAAAATCACTGAATTAGGACTGTTAGCATTCCTATTGTCATTGCCTTATAATGAAAATGACAAAATCAGAAAGTGCCTCAAATTTGTTGAGCCTTAGCAGGAACCACCATCACTACTACCAACACACACACATCACACACACACATACCACACACATCACACAGAAATCTAAAACAAATGGCCATTTTAACAGGGAGACAATGTATTCTCCATACTTGTCCTGACTCCAGATTTCTAAATTTGAAATTGTAATTTTTGGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGC
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Task1_train_24261
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A variant on Chromosome 17 in gene KRT12 (keratin 12) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Corneal dystrophy, Meesmann, 1
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TGTCCTGACTCCAGATTTCTAAATTTGAAATTGTAATTTTTGGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGCGATGAATCCCAATACCACAGCATCCCAGGGAATAATTTTCCCTTTGGCTGGCTGCCGTGGCTGTAAATAGCAGCAGCCCCTCTCTAAGTGGAATTTCTAAAAGCCGTTGAAAATAAGTTACTCTTTTTGCTTAACGTTCTTCATGATTTAACTTAAAACACTGATACTTCTTTAGTGGCTTTGACTAAGATTTTACAGGTTCAGAACCATGGCCATTGCAACTTCCTGTGTAGAAATTTTGTGAAGCAAAAAGGAAATTAGTATTTCTTACCTATATCTGGGAGAGTTGAGCATGGAAAAGGAGGAAGGAATATAAAAATTAGTACATGGTTAATCTTTCCATTGTATGTGTCATCAGGAAAACAATGGTTGATACATTGAAAATTGAGGTTTAGAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAATAATTAGCTGGGCACGGTGGCAGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAACAAAAAACAAAAAACAAAAAAAGAAAATTGAGGTTTAGGACACTGGTAGGATTATGGTGTCAGTCACATCATGAGTTGAGTCAATAGCACACTACAAATATCGTGATCCATAGCCCTGGGTTTAAGTAACTTATAATTTAAGGACATTTAATCTGAATTGCATTAGATTCTAATTACTTTCTAGAACACCCTATGTGAATTTACCAAAACAGTAAATATATGGAGTATGTGAACTTCAGAAGATTTTATATCAATGAAGGCAGGACAGTAGGACAGAAGACATGGTGGGACACGCCCATGATCTTCAGTTTATTCGACTCACTTCATCCTGAAGTCCTCAGCAGCTAGTCTCGCATTGTCAATCTGCAAGAGGAGCTGGGCATTTCCAATGCTGGCTGAAATGATCTGGCAAAAGAGAGGGACACACACAAGATTGAAGCCCTAAAAGACTAGTATTATACAAATATATTTTTGACACAAAGGTGAAAATGGTGATATTAAATGCTGTTTTATTTAGAGTTTAAGACAGTTTCATTTTTCTAAGACAATATCTGTATAAAATAATATTGAGAAGTAAAGAAATGCAGATTTCCTACAGAAAGATAATGGAAATACAATCATTTCTTAGTAAATGATAAAGTGGAGTGAAACAACCTGGGATGAGAAAATTGCTGCAAGTACAGCTAAATTGGAAAATATCAAAGTTGTAGGTGATTATCACTGTAAAACATTGTAATGGTAAAAAGGAAAAAAAAAATTCCCAAAGCGCCTCCAAAAGAGATCTTACCTTATTCCTGAGGTCTTCAATCAGTGGATAATATTTGCTGTAATCGCTCTGTGAAGCATCTGCAGTCCCAGTTCCTCGTGTTTCATACCATTCTCGAATTTTATTTTCTAGCTCAGTATTAGCCTCTTCTAGAGCTCGCACCTTATCCAGGTAGGAAGCTAATCTATCATTAAGATTTTGCATAGTTTCTTTTTCTGATCCAGAAAGAAGGCCTCCATCATTGCCCGAGAGAATACCTAGAGAGCCACCTCCTGGGCTGCCCCCAAATCCCATCCCCAGCCCTCCAAAGCTACCTCCACCCAGGGCTCTCCCATAACCAGCACCCAGTCCTCCTGCCATGGAACTTCCGGAGCCACCCCCAAAGCCGGAACTAGAACCAAACATGGAAGCAGCAGAAAAGCCTCCCCCACAGCTGGCTCCAAAGCCAAAGGCACTTCCCCCATAACCACTTCCAACACTGGAAGCAGACATGCCCCTGGGTCTGCCTATCACACTCTGCGAGGAGAGCCGCCGGGACAGTCCGGGGGTGCGCACTGAGAGTGACATGGTGTTGTTGGAGAGATCCATGGCCTGGGGAAGGTGGCCACAACTGGAGAGGAAGTTGTGCCAGCAAGCCAGAAAGCTAAACTTATATAGGCTGCAAGATGGGTGTCGCAGTTGAAAAGTTCACTTTCTCCACTCAAAATTGGATCCTCCCCCCAGGTTTTTGGCCAGCTCAACAAGTGAATGATTTATGTATAATGAAAATTCATTGATACAGAAATAATCGAATAATCATTTCCATTAAATATTTGTTATATGAAAAAGAAAGCTGGGTGGAGTAGAGTCTGCTTGTCATAAGGAATTTTTCTTCTCCAAATTAGTCTGTTGCCTGTATTCCCAGCACTGCCTAGCGTCTTGTTCACAGTAGGAAGATAATGAGCGATTGCTGAATGGATACGTTAAATACTTCTTCCTAAACCTTATGCTTTTTTAAGTTCTTCCCTGATCTTTTCTGTTTGTTTCCTTTGGAAAATCCAGTGTAAACCATTTGTTTCCTTTGGAAAAACCAATCCAATGTAAAATCCAGTCATGATCAAGTATACCTTTTAGTGGAATACAGCTTCAGAAGCAGCTGTGAAATGCACTGGTGAAAGGTGGAGAATAAATATATTTTCCAGATGGATACTAGAATTTGCATTTTCAAGGATTTTAAAACCTTGGCTTTAGGATGTTGCATGTTTCTTTTCCCTCTTATTCTTCAACTTGGAAAAGTACTATTTTTGAGTACAGTTGTTTATAGTAGAGTTTATTATAGTTGTTTTAGCAGTTTTACCTTGTCTGATTGCTCACTGCTCTACACTCAGCATTTACTATGTTTATTCCTTCAACAGATATTGCCTGTAATGGTTGCTCAATAAATGTGTTGACTAGTTGAATGGATTGTGTAAACACTTCAGATTTTGTTGCCATTATCAATAAGGAGAAAGTGGAAACACAGTTCAAATTAAGAAATGATTAAAACCCCAAGTTTAAGAGGCTAGTGAACCATTTCAGTTGACTGCTATGATGAAAAAGGATAAATTTTACAATATAGAATAAATTAAATGTTATATTTTAAACTTTGTTGTGAAAACTTTGCAAAGCGTGCTTCAAGGAATTATATCCAGTATCTTTAATTTTTAAGACATAAAGTTCTTATACTTTCTTGTTTGGTATATTATTTATCTTTGAAATTGATATGGCTTATATATTGAACATGAGAACTAACGTTCTTACAGGAAATGCATTAACTTGAAAGAAGCCTGCTTTCAGAGAGAGTTGTAGATACCTGGAAACCGAGTAGTACAATTCCAGGGTGGTGGAATTCCCTTAGGAATTTAAATTGTGAGCATTTTGATTGGATAAGAAGGAATAAGGATTTTTCTTTTACATGTTTTCTTTGAGATGATGGCCCAATTCTCTACATGTCTCATTGCAAAATAGTTCTATAGTTTTTTTTTAAATATAGCTCTCTATGTATTTATAGTAGGAAATTTAGAAGATGCAGAAAACATAAAGAAGATGTATGTATATATGAGTATTTTATATACATTTTTGAACATAATTGATTCAATATAAGATTTTATAATCTGCTTTTCTCTTAAGATTATATACTTATCTATCACTTGAACTTTAATAATTGGGTACAGAACATGGATTGTGGATT
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TGTCCTGACTCCAGATTTCTAAATTTGAAATTGTAATTTTTGGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGCGATGAATCCCAATACCACAGCATCCCAGGGAATAATTTTCCCTTTGGCTGGCTGCCGTGGCTGTAAATAGCAGCAGCCCCTCTCTAAGTGGAATTTCTAAAAGCCGTTGAAAATAAGTTACTCTTTTTGCTTAACGTTCTTCATGATTTAACTTAAAACACTGATACTTCTTTAGTGGCTTTGACTAAGATTTTACAGGTTCAGAACCATGGCCATTGCAACTTCCTGTGTAGAAATTTTGTGAAGCAAAAAGGAAATTAGTATTTCTTACCTATATCTGGGAGAGTTGAGCATGGAAAAGGAGGAAGGAATATAAAAATTAGTACATGGTTAATCTTTCCATTGTATGTGTCATCAGGAAAACAATGGTTGATACATTGAAAATTGAGGTTTAGAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAATAATTAGCTGGGCACGGTGGCAGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAACAAAAAACAAAAAACAAAAAAAGAAAATTGAGGTTTAGGACACTGGTAGGATTATGGTGTCAGTCACATCATGAGTTGAGTCAATAGCACACTACAAATATCGTGATCCATAGCCCTGGGTTTAAGTAACTTATAATTTAAGGACATTTAATCTGAATTGCATTAGATTCTAATTACTTTCTAGAACACCCTATGTGAATTTACCAAAACAGTAAATATATGGAGTATGTGAACTTCAGAAGATTTTATATCAATGAAGGCAGGACAGTAGGACAGAAGACATGGTGGGACACGCCCATGATCTTCAGTTTATTCGACTCACTTCATCCTGAAGTCCTCAGCAGCTAGTCTCGCATTGTCAATCTGCAAGAGGAGCTGGGCATTTCCAATGCTGGCTGAAATGATCTGGCAAAAGAGAGGGACACACACAAGATTGAAGCCCTAAAAGACTAGTATTATACAAATATATTTTTGACACAAAGGTGAAAATGGTGATATTAAATGCTGTTTTATTTAGAGTTTAAGACAGTTTCATTTTTCTAAGACAATATCTGTATAAAATAATATTGAGAAGTAAAGAAATGCAGATTTCCTACAGAAAGATAATGGAAATACAATCATTTCTTAGTAAATGATAAAGTGGAGTGAAACAACCTGGGATGAGAAAATTGCTGCAAGTACAGCTAAATTGGAAAATATCAAAGTTGTAGGTGATTATCACTGTAAAACATTGTAATGGTAAAAAGGAAAAAAAAAATTCCCAAAGCGCCTCCAAAAGAGATCTTACCTTATTCCTGAGGTCTTCAATCAGTGGATAATATTTGCTGTAATCGCTCTGTGAAGCATCTGCAGTCCCAGTTCCTCGTGTTTCATACCATTCTCGAATTTTATTTTCTAGCTCAGTATTAGCCTCTTCTAGAGCTCGCAGCTTATCCAGGTAGGAAGCTAATCTATCATTAAGATTTTGCATAGTTTCTTTTTCTGATCCAGAAAGAAGGCCTCCATCATTGCCCGAGAGAATACCTAGAGAGCCACCTCCTGGGCTGCCCCCAAATCCCATCCCCAGCCCTCCAAAGCTACCTCCACCCAGGGCTCTCCCATAACCAGCACCCAGTCCTCCTGCCATGGAACTTCCGGAGCCACCCCCAAAGCCGGAACTAGAACCAAACATGGAAGCAGCAGAAAAGCCTCCCCCACAGCTGGCTCCAAAGCCAAAGGCACTTCCCCCATAACCACTTCCAACACTGGAAGCAGACATGCCCCTGGGTCTGCCTATCACACTCTGCGAGGAGAGCCGCCGGGACAGTCCGGGGGTGCGCACTGAGAGTGACATGGTGTTGTTGGAGAGATCCATGGCCTGGGGAAGGTGGCCACAACTGGAGAGGAAGTTGTGCCAGCAAGCCAGAAAGCTAAACTTATATAGGCTGCAAGATGGGTGTCGCAGTTGAAAAGTTCACTTTCTCCACTCAAAATTGGATCCTCCCCCCAGGTTTTTGGCCAGCTCAACAAGTGAATGATTTATGTATAATGAAAATTCATTGATACAGAAATAATCGAATAATCATTTCCATTAAATATTTGTTATATGAAAAAGAAAGCTGGGTGGAGTAGAGTCTGCTTGTCATAAGGAATTTTTCTTCTCCAAATTAGTCTGTTGCCTGTATTCCCAGCACTGCCTAGCGTCTTGTTCACAGTAGGAAGATAATGAGCGATTGCTGAATGGATACGTTAAATACTTCTTCCTAAACCTTATGCTTTTTTAAGTTCTTCCCTGATCTTTTCTGTTTGTTTCCTTTGGAAAATCCAGTGTAAACCATTTGTTTCCTTTGGAAAAACCAATCCAATGTAAAATCCAGTCATGATCAAGTATACCTTTTAGTGGAATACAGCTTCAGAAGCAGCTGTGAAATGCACTGGTGAAAGGTGGAGAATAAATATATTTTCCAGATGGATACTAGAATTTGCATTTTCAAGGATTTTAAAACCTTGGCTTTAGGATGTTGCATGTTTCTTTTCCCTCTTATTCTTCAACTTGGAAAAGTACTATTTTTGAGTACAGTTGTTTATAGTAGAGTTTATTATAGTTGTTTTAGCAGTTTTACCTTGTCTGATTGCTCACTGCTCTACACTCAGCATTTACTATGTTTATTCCTTCAACAGATATTGCCTGTAATGGTTGCTCAATAAATGTGTTGACTAGTTGAATGGATTGTGTAAACACTTCAGATTTTGTTGCCATTATCAATAAGGAGAAAGTGGAAACACAGTTCAAATTAAGAAATGATTAAAACCCCAAGTTTAAGAGGCTAGTGAACCATTTCAGTTGACTGCTATGATGAAAAAGGATAAATTTTACAATATAGAATAAATTAAATGTTATATTTTAAACTTTGTTGTGAAAACTTTGCAAAGCGTGCTTCAAGGAATTATATCCAGTATCTTTAATTTTTAAGACATAAAGTTCTTATACTTTCTTGTTTGGTATATTATTTATCTTTGAAATTGATATGGCTTATATATTGAACATGAGAACTAACGTTCTTACAGGAAATGCATTAACTTGAAAGAAGCCTGCTTTCAGAGAGAGTTGTAGATACCTGGAAACCGAGTAGTACAATTCCAGGGTGGTGGAATTCCCTTAGGAATTTAAATTGTGAGCATTTTGATTGGATAAGAAGGAATAAGGATTTTTCTTTTACATGTTTTCTTTGAGATGATGGCCCAATTCTCTACATGTCTCATTGCAAAATAGTTCTATAGTTTTTTTTTAAATATAGCTCTCTATGTATTTATAGTAGGAAATTTAGAAGATGCAGAAAACATAAAGAAGATGTATGTATATATGAGTATTTTATATACATTTTTGAACATAATTGATTCAATATAAGATTTTATAATCTGCTTTTCTCTTAAGATTATATACTTATCTATCACTTGAACTTTAATAATTGGGTACAGAACATGGATTGTGGATT
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Task1_train_24262
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A variant found in Chromosome 17 affects KRT12 (keratin 12). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Corneal dystrophy, Meesmann, 1
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CTCCAGATTTCTAAATTTGAAATTGTAATTTTTGGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGCGATGAATCCCAATACCACAGCATCCCAGGGAATAATTTTCCCTTTGGCTGGCTGCCGTGGCTGTAAATAGCAGCAGCCCCTCTCTAAGTGGAATTTCTAAAAGCCGTTGAAAATAAGTTACTCTTTTTGCTTAACGTTCTTCATGATTTAACTTAAAACACTGATACTTCTTTAGTGGCTTTGACTAAGATTTTACAGGTTCAGAACCATGGCCATTGCAACTTCCTGTGTAGAAATTTTGTGAAGCAAAAAGGAAATTAGTATTTCTTACCTATATCTGGGAGAGTTGAGCATGGAAAAGGAGGAAGGAATATAAAAATTAGTACATGGTTAATCTTTCCATTGTATGTGTCATCAGGAAAACAATGGTTGATACATTGAAAATTGAGGTTTAGAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAATAATTAGCTGGGCACGGTGGCAGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAACAAAAAACAAAAAACAAAAAAAGAAAATTGAGGTTTAGGACACTGGTAGGATTATGGTGTCAGTCACATCATGAGTTGAGTCAATAGCACACTACAAATATCGTGATCCATAGCCCTGGGTTTAAGTAACTTATAATTTAAGGACATTTAATCTGAATTGCATTAGATTCTAATTACTTTCTAGAACACCCTATGTGAATTTACCAAAACAGTAAATATATGGAGTATGTGAACTTCAGAAGATTTTATATCAATGAAGGCAGGACAGTAGGACAGAAGACATGGTGGGACACGCCCATGATCTTCAGTTTATTCGACTCACTTCATCCTGAAGTCCTCAGCAGCTAGTCTCGCATTGTCAATCTGCAAGAGGAGCTGGGCATTTCCAATGCTGGCTGAAATGATCTGGCAAAAGAGAGGGACACACACAAGATTGAAGCCCTAAAAGACTAGTATTATACAAATATATTTTTGACACAAAGGTGAAAATGGTGATATTAAATGCTGTTTTATTTAGAGTTTAAGACAGTTTCATTTTTCTAAGACAATATCTGTATAAAATAATATTGAGAAGTAAAGAAATGCAGATTTCCTACAGAAAGATAATGGAAATACAATCATTTCTTAGTAAATGATAAAGTGGAGTGAAACAACCTGGGATGAGAAAATTGCTGCAAGTACAGCTAAATTGGAAAATATCAAAGTTGTAGGTGATTATCACTGTAAAACATTGTAATGGTAAAAAGGAAAAAAAAAATTCCCAAAGCGCCTCCAAAAGAGATCTTACCTTATTCCTGAGGTCTTCAATCAGTGGATAATATTTGCTGTAATCGCTCTGTGAAGCATCTGCAGTCCCAGTTCCTCGTGTTTCATACCATTCTCGAATTTTATTTTCTAGCTCAGTATTAGCCTCTTCTAGAGCTCGCACCTTATCCAGGTAGGAAGCTAATCTATCATTAAGATTTTGCATAGTTTCTTTTTCTGATCCAGAAAGAAGGCCTCCATCATTGCCCGAGAGAATACCTAGAGAGCCACCTCCTGGGCTGCCCCCAAATCCCATCCCCAGCCCTCCAAAGCTACCTCCACCCAGGGCTCTCCCATAACCAGCACCCAGTCCTCCTGCCATGGAACTTCCGGAGCCACCCCCAAAGCCGGAACTAGAACCAAACATGGAAGCAGCAGAAAAGCCTCCCCCACAGCTGGCTCCAAAGCCAAAGGCACTTCCCCCATAACCACTTCCAACACTGGAAGCAGACATGCCCCTGGGTCTGCCTATCACACTCTGCGAGGAGAGCCGCCGGGACAGTCCGGGGGTGCGCACTGAGAGTGACATGGTGTTGTTGGAGAGATCCATGGCCTGGGGAAGGTGGCCACAACTGGAGAGGAAGTTGTGCCAGCAAGCCAGAAAGCTAAACTTATATAGGCTGCAAGATGGGTGTCGCAGTTGAAAAGTTCACTTTCTCCACTCAAAATTGGATCCTCCCCCCAGGTTTTTGGCCAGCTCAACAAGTGAATGATTTATGTATAATGAAAATTCATTGATACAGAAATAATCGAATAATCATTTCCATTAAATATTTGTTATATGAAAAAGAAAGCTGGGTGGAGTAGAGTCTGCTTGTCATAAGGAATTTTTCTTCTCCAAATTAGTCTGTTGCCTGTATTCCCAGCACTGCCTAGCGTCTTGTTCACAGTAGGAAGATAATGAGCGATTGCTGAATGGATACGTTAAATACTTCTTCCTAAACCTTATGCTTTTTTAAGTTCTTCCCTGATCTTTTCTGTTTGTTTCCTTTGGAAAATCCAGTGTAAACCATTTGTTTCCTTTGGAAAAACCAATCCAATGTAAAATCCAGTCATGATCAAGTATACCTTTTAGTGGAATACAGCTTCAGAAGCAGCTGTGAAATGCACTGGTGAAAGGTGGAGAATAAATATATTTTCCAGATGGATACTAGAATTTGCATTTTCAAGGATTTTAAAACCTTGGCTTTAGGATGTTGCATGTTTCTTTTCCCTCTTATTCTTCAACTTGGAAAAGTACTATTTTTGAGTACAGTTGTTTATAGTAGAGTTTATTATAGTTGTTTTAGCAGTTTTACCTTGTCTGATTGCTCACTGCTCTACACTCAGCATTTACTATGTTTATTCCTTCAACAGATATTGCCTGTAATGGTTGCTCAATAAATGTGTTGACTAGTTGAATGGATTGTGTAAACACTTCAGATTTTGTTGCCATTATCAATAAGGAGAAAGTGGAAACACAGTTCAAATTAAGAAATGATTAAAACCCCAAGTTTAAGAGGCTAGTGAACCATTTCAGTTGACTGCTATGATGAAAAAGGATAAATTTTACAATATAGAATAAATTAAATGTTATATTTTAAACTTTGTTGTGAAAACTTTGCAAAGCGTGCTTCAAGGAATTATATCCAGTATCTTTAATTTTTAAGACATAAAGTTCTTATACTTTCTTGTTTGGTATATTATTTATCTTTGAAATTGATATGGCTTATATATTGAACATGAGAACTAACGTTCTTACAGGAAATGCATTAACTTGAAAGAAGCCTGCTTTCAGAGAGAGTTGTAGATACCTGGAAACCGAGTAGTACAATTCCAGGGTGGTGGAATTCCCTTAGGAATTTAAATTGTGAGCATTTTGATTGGATAAGAAGGAATAAGGATTTTTCTTTTACATGTTTTCTTTGAGATGATGGCCCAATTCTCTACATGTCTCATTGCAAAATAGTTCTATAGTTTTTTTTTAAATATAGCTCTCTATGTATTTATAGTAGGAAATTTAGAAGATGCAGAAAACATAAAGAAGATGTATGTATATATGAGTATTTTATATACATTTTTGAACATAATTGATTCAATATAAGATTTTATAATCTGCTTTTCTCTTAAGATTATATACTTATCTATCACTTGAACTTTAATAATTGGGTACAGAACATGGATTGTGGATTCTTCGAAA
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CTCCAGATTTCTAAATTTGAAATTGTAATTTTTGGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGCGATGAATCCCAATACCACAGCATCCCAGGGAATAATTTTCCCTTTGGCTGGCTGCCGTGGCTGTAAATAGCAGCAGCCCCTCTCTAAGTGGAATTTCTAAAAGCCGTTGAAAATAAGTTACTCTTTTTGCTTAACGTTCTTCATGATTTAACTTAAAACACTGATACTTCTTTAGTGGCTTTGACTAAGATTTTACAGGTTCAGAACCATGGCCATTGCAACTTCCTGTGTAGAAATTTTGTGAAGCAAAAAGGAAATTAGTATTTCTTACCTATATCTGGGAGAGTTGAGCATGGAAAAGGAGGAAGGAATATAAAAATTAGTACATGGTTAATCTTTCCATTGTATGTGTCATCAGGAAAACAATGGTTGATACATTGAAAATTGAGGTTTAGAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAATAATTAGCTGGGCACGGTGGCAGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAACAAAAAACAAAAAACAAAAAAAGAAAATTGAGGTTTAGGACACTGGTAGGATTATGGTGTCAGTCACATCATGAGTTGAGTCAATAGCACACTACAAATATCGTGATCCATAGCCCTGGGTTTAAGTAACTTATAATTTAAGGACATTTAATCTGAATTGCATTAGATTCTAATTACTTTCTAGAACACCCTATGTGAATTTACCAAAACAGTAAATATATGGAGTATGTGAACTTCAGAAGATTTTATATCAATGAAGGCAGGACAGTAGGACAGAAGACATGGTGGGACACGCCCATGATCTTCAGTTTATTCGACTCACTTCATCCTGAAGTCCTCAGCAGCTAGTCTCGCATTGTCAATCTGCAAGAGGAGCTGGGCATTTCCAATGCTGGCTGAAATGATCTGGCAAAAGAGAGGGACACACACAAGATTGAAGCCCTAAAAGACTAGTATTATACAAATATATTTTTGACACAAAGGTGAAAATGGTGATATTAAATGCTGTTTTATTTAGAGTTTAAGACAGTTTCATTTTTCTAAGACAATATCTGTATAAAATAATATTGAGAAGTAAAGAAATGCAGATTTCCTACAGAAAGATAATGGAAATACAATCATTTCTTAGTAAATGATAAAGTGGAGTGAAACAACCTGGGATGAGAAAATTGCTGCAAGTACAGCTAAATTGGAAAATATCAAAGTTGTAGGTGATTATCACTGTAAAACATTGTAATGGTAAAAAGGAAAAAAAAAATTCCCAAAGCGCCTCCAAAAGAGATCTTACCTTATTCCTGAGGTCTTCAATCAGTGGATAATATTTGCTGTAATCGCTCTGTGAAGCATCTGCAGTCCCAGTTCCTCGTGTTTCATACCATTCTCGAATTTTATTTTCTAGCTCAGTATTAGCCTCTTCTAGAGCTCGCACCTTATCCCGGTAGGAAGCTAATCTATCATTAAGATTTTGCATAGTTTCTTTTTCTGATCCAGAAAGAAGGCCTCCATCATTGCCCGAGAGAATACCTAGAGAGCCACCTCCTGGGCTGCCCCCAAATCCCATCCCCAGCCCTCCAAAGCTACCTCCACCCAGGGCTCTCCCATAACCAGCACCCAGTCCTCCTGCCATGGAACTTCCGGAGCCACCCCCAAAGCCGGAACTAGAACCAAACATGGAAGCAGCAGAAAAGCCTCCCCCACAGCTGGCTCCAAAGCCAAAGGCACTTCCCCCATAACCACTTCCAACACTGGAAGCAGACATGCCCCTGGGTCTGCCTATCACACTCTGCGAGGAGAGCCGCCGGGACAGTCCGGGGGTGCGCACTGAGAGTGACATGGTGTTGTTGGAGAGATCCATGGCCTGGGGAAGGTGGCCACAACTGGAGAGGAAGTTGTGCCAGCAAGCCAGAAAGCTAAACTTATATAGGCTGCAAGATGGGTGTCGCAGTTGAAAAGTTCACTTTCTCCACTCAAAATTGGATCCTCCCCCCAGGTTTTTGGCCAGCTCAACAAGTGAATGATTTATGTATAATGAAAATTCATTGATACAGAAATAATCGAATAATCATTTCCATTAAATATTTGTTATATGAAAAAGAAAGCTGGGTGGAGTAGAGTCTGCTTGTCATAAGGAATTTTTCTTCTCCAAATTAGTCTGTTGCCTGTATTCCCAGCACTGCCTAGCGTCTTGTTCACAGTAGGAAGATAATGAGCGATTGCTGAATGGATACGTTAAATACTTCTTCCTAAACCTTATGCTTTTTTAAGTTCTTCCCTGATCTTTTCTGTTTGTTTCCTTTGGAAAATCCAGTGTAAACCATTTGTTTCCTTTGGAAAAACCAATCCAATGTAAAATCCAGTCATGATCAAGTATACCTTTTAGTGGAATACAGCTTCAGAAGCAGCTGTGAAATGCACTGGTGAAAGGTGGAGAATAAATATATTTTCCAGATGGATACTAGAATTTGCATTTTCAAGGATTTTAAAACCTTGGCTTTAGGATGTTGCATGTTTCTTTTCCCTCTTATTCTTCAACTTGGAAAAGTACTATTTTTGAGTACAGTTGTTTATAGTAGAGTTTATTATAGTTGTTTTAGCAGTTTTACCTTGTCTGATTGCTCACTGCTCTACACTCAGCATTTACTATGTTTATTCCTTCAACAGATATTGCCTGTAATGGTTGCTCAATAAATGTGTTGACTAGTTGAATGGATTGTGTAAACACTTCAGATTTTGTTGCCATTATCAATAAGGAGAAAGTGGAAACACAGTTCAAATTAAGAAATGATTAAAACCCCAAGTTTAAGAGGCTAGTGAACCATTTCAGTTGACTGCTATGATGAAAAAGGATAAATTTTACAATATAGAATAAATTAAATGTTATATTTTAAACTTTGTTGTGAAAACTTTGCAAAGCGTGCTTCAAGGAATTATATCCAGTATCTTTAATTTTTAAGACATAAAGTTCTTATACTTTCTTGTTTGGTATATTATTTATCTTTGAAATTGATATGGCTTATATATTGAACATGAGAACTAACGTTCTTACAGGAAATGCATTAACTTGAAAGAAGCCTGCTTTCAGAGAGAGTTGTAGATACCTGGAAACCGAGTAGTACAATTCCAGGGTGGTGGAATTCCCTTAGGAATTTAAATTGTGAGCATTTTGATTGGATAAGAAGGAATAAGGATTTTTCTTTTACATGTTTTCTTTGAGATGATGGCCCAATTCTCTACATGTCTCATTGCAAAATAGTTCTATAGTTTTTTTTTAAATATAGCTCTCTATGTATTTATAGTAGGAAATTTAGAAGATGCAGAAAACATAAAGAAGATGTATGTATATATGAGTATTTTATATACATTTTTGAACATAATTGATTCAATATAAGATTTTATAATCTGCTTTTCTCTTAAGATTATATACTTATCTATCACTTGAACTTTAATAATTGGGTACAGAACATGGATTGTGGATTCTTCGAAA
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Task1_train_24263
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Given this context: Chromosome 17, gene KRT12 (keratin 12) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Corneal dystrophy, Meesmann, 1
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TTTGAAATTGTAATTTTTGGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGCGATGAATCCCAATACCACAGCATCCCAGGGAATAATTTTCCCTTTGGCTGGCTGCCGTGGCTGTAAATAGCAGCAGCCCCTCTCTAAGTGGAATTTCTAAAAGCCGTTGAAAATAAGTTACTCTTTTTGCTTAACGTTCTTCATGATTTAACTTAAAACACTGATACTTCTTTAGTGGCTTTGACTAAGATTTTACAGGTTCAGAACCATGGCCATTGCAACTTCCTGTGTAGAAATTTTGTGAAGCAAAAAGGAAATTAGTATTTCTTACCTATATCTGGGAGAGTTGAGCATGGAAAAGGAGGAAGGAATATAAAAATTAGTACATGGTTAATCTTTCCATTGTATGTGTCATCAGGAAAACAATGGTTGATACATTGAAAATTGAGGTTTAGAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAATAATTAGCTGGGCACGGTGGCAGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAACAAAAAACAAAAAACAAAAAAAGAAAATTGAGGTTTAGGACACTGGTAGGATTATGGTGTCAGTCACATCATGAGTTGAGTCAATAGCACACTACAAATATCGTGATCCATAGCCCTGGGTTTAAGTAACTTATAATTTAAGGACATTTAATCTGAATTGCATTAGATTCTAATTACTTTCTAGAACACCCTATGTGAATTTACCAAAACAGTAAATATATGGAGTATGTGAACTTCAGAAGATTTTATATCAATGAAGGCAGGACAGTAGGACAGAAGACATGGTGGGACACGCCCATGATCTTCAGTTTATTCGACTCACTTCATCCTGAAGTCCTCAGCAGCTAGTCTCGCATTGTCAATCTGCAAGAGGAGCTGGGCATTTCCAATGCTGGCTGAAATGATCTGGCAAAAGAGAGGGACACACACAAGATTGAAGCCCTAAAAGACTAGTATTATACAAATATATTTTTGACACAAAGGTGAAAATGGTGATATTAAATGCTGTTTTATTTAGAGTTTAAGACAGTTTCATTTTTCTAAGACAATATCTGTATAAAATAATATTGAGAAGTAAAGAAATGCAGATTTCCTACAGAAAGATAATGGAAATACAATCATTTCTTAGTAAATGATAAAGTGGAGTGAAACAACCTGGGATGAGAAAATTGCTGCAAGTACAGCTAAATTGGAAAATATCAAAGTTGTAGGTGATTATCACTGTAAAACATTGTAATGGTAAAAAGGAAAAAAAAAATTCCCAAAGCGCCTCCAAAAGAGATCTTACCTTATTCCTGAGGTCTTCAATCAGTGGATAATATTTGCTGTAATCGCTCTGTGAAGCATCTGCAGTCCCAGTTCCTCGTGTTTCATACCATTCTCGAATTTTATTTTCTAGCTCAGTATTAGCCTCTTCTAGAGCTCGCACCTTATCCAGGTAGGAAGCTAATCTATCATTAAGATTTTGCATAGTTTCTTTTTCTGATCCAGAAAGAAGGCCTCCATCATTGCCCGAGAGAATACCTAGAGAGCCACCTCCTGGGCTGCCCCCAAATCCCATCCCCAGCCCTCCAAAGCTACCTCCACCCAGGGCTCTCCCATAACCAGCACCCAGTCCTCCTGCCATGGAACTTCCGGAGCCACCCCCAAAGCCGGAACTAGAACCAAACATGGAAGCAGCAGAAAAGCCTCCCCCACAGCTGGCTCCAAAGCCAAAGGCACTTCCCCCATAACCACTTCCAACACTGGAAGCAGACATGCCCCTGGGTCTGCCTATCACACTCTGCGAGGAGAGCCGCCGGGACAGTCCGGGGGTGCGCACTGAGAGTGACATGGTGTTGTTGGAGAGATCCATGGCCTGGGGAAGGTGGCCACAACTGGAGAGGAAGTTGTGCCAGCAAGCCAGAAAGCTAAACTTATATAGGCTGCAAGATGGGTGTCGCAGTTGAAAAGTTCACTTTCTCCACTCAAAATTGGATCCTCCCCCCAGGTTTTTGGCCAGCTCAACAAGTGAATGATTTATGTATAATGAAAATTCATTGATACAGAAATAATCGAATAATCATTTCCATTAAATATTTGTTATATGAAAAAGAAAGCTGGGTGGAGTAGAGTCTGCTTGTCATAAGGAATTTTTCTTCTCCAAATTAGTCTGTTGCCTGTATTCCCAGCACTGCCTAGCGTCTTGTTCACAGTAGGAAGATAATGAGCGATTGCTGAATGGATACGTTAAATACTTCTTCCTAAACCTTATGCTTTTTTAAGTTCTTCCCTGATCTTTTCTGTTTGTTTCCTTTGGAAAATCCAGTGTAAACCATTTGTTTCCTTTGGAAAAACCAATCCAATGTAAAATCCAGTCATGATCAAGTATACCTTTTAGTGGAATACAGCTTCAGAAGCAGCTGTGAAATGCACTGGTGAAAGGTGGAGAATAAATATATTTTCCAGATGGATACTAGAATTTGCATTTTCAAGGATTTTAAAACCTTGGCTTTAGGATGTTGCATGTTTCTTTTCCCTCTTATTCTTCAACTTGGAAAAGTACTATTTTTGAGTACAGTTGTTTATAGTAGAGTTTATTATAGTTGTTTTAGCAGTTTTACCTTGTCTGATTGCTCACTGCTCTACACTCAGCATTTACTATGTTTATTCCTTCAACAGATATTGCCTGTAATGGTTGCTCAATAAATGTGTTGACTAGTTGAATGGATTGTGTAAACACTTCAGATTTTGTTGCCATTATCAATAAGGAGAAAGTGGAAACACAGTTCAAATTAAGAAATGATTAAAACCCCAAGTTTAAGAGGCTAGTGAACCATTTCAGTTGACTGCTATGATGAAAAAGGATAAATTTTACAATATAGAATAAATTAAATGTTATATTTTAAACTTTGTTGTGAAAACTTTGCAAAGCGTGCTTCAAGGAATTATATCCAGTATCTTTAATTTTTAAGACATAAAGTTCTTATACTTTCTTGTTTGGTATATTATTTATCTTTGAAATTGATATGGCTTATATATTGAACATGAGAACTAACGTTCTTACAGGAAATGCATTAACTTGAAAGAAGCCTGCTTTCAGAGAGAGTTGTAGATACCTGGAAACCGAGTAGTACAATTCCAGGGTGGTGGAATTCCCTTAGGAATTTAAATTGTGAGCATTTTGATTGGATAAGAAGGAATAAGGATTTTTCTTTTACATGTTTTCTTTGAGATGATGGCCCAATTCTCTACATGTCTCATTGCAAAATAGTTCTATAGTTTTTTTTTAAATATAGCTCTCTATGTATTTATAGTAGGAAATTTAGAAGATGCAGAAAACATAAAGAAGATGTATGTATATATGAGTATTTTATATACATTTTTGAACATAATTGATTCAATATAAGATTTTATAATCTGCTTTTCTCTTAAGATTATATACTTATCTATCACTTGAACTTTAATAATTGGGTACAGAACATGGATTGTGGATTCTTCGAAATCCTTTGTTGGATTC
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TTTGAAATTGTAATTTTTGGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGCGATGAATCCCAATACCACAGCATCCCAGGGAATAATTTTCCCTTTGGCTGGCTGCCGTGGCTGTAAATAGCAGCAGCCCCTCTCTAAGTGGAATTTCTAAAAGCCGTTGAAAATAAGTTACTCTTTTTGCTTAACGTTCTTCATGATTTAACTTAAAACACTGATACTTCTTTAGTGGCTTTGACTAAGATTTTACAGGTTCAGAACCATGGCCATTGCAACTTCCTGTGTAGAAATTTTGTGAAGCAAAAAGGAAATTAGTATTTCTTACCTATATCTGGGAGAGTTGAGCATGGAAAAGGAGGAAGGAATATAAAAATTAGTACATGGTTAATCTTTCCATTGTATGTGTCATCAGGAAAACAATGGTTGATACATTGAAAATTGAGGTTTAGAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAATAATTAGCTGGGCACGGTGGCAGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAACAAAAAACAAAAAACAAAAAAAGAAAATTGAGGTTTAGGACACTGGTAGGATTATGGTGTCAGTCACATCATGAGTTGAGTCAATAGCACACTACAAATATCGTGATCCATAGCCCTGGGTTTAAGTAACTTATAATTTAAGGACATTTAATCTGAATTGCATTAGATTCTAATTACTTTCTAGAACACCCTATGTGAATTTACCAAAACAGTAAATATATGGAGTATGTGAACTTCAGAAGATTTTATATCAATGAAGGCAGGACAGTAGGACAGAAGACATGGTGGGACACGCCCATGATCTTCAGTTTATTCGACTCACTTCATCCTGAAGTCCTCAGCAGCTAGTCTCGCATTGTCAATCTGCAAGAGGAGCTGGGCATTTCCAATGCTGGCTGAAATGATCTGGCAAAAGAGAGGGACACACACAAGATTGAAGCCCTAAAAGACTAGTATTATACAAATATATTTTTGACACAAAGGTGAAAATGGTGATATTAAATGCTGTTTTATTTAGAGTTTAAGACAGTTTCATTTTTCTAAGACAATATCTGTATAAAATAATATTGAGAAGTAAAGAAATGCAGATTTCCTACAGAAAGATAATGGAAATACAATCATTTCTTAGTAAATGATAAAGTGGAGTGAAACAACCTGGGATGAGAAAATTGCTGCAAGTACAGCTAAATTGGAAAATATCAAAGTTGTAGGTGATTATCACTGTAAAACATTGTAATGGTAAAAAGGAAAAAAAAAATTCCCAAAGCGCCTCCAAAAGAGATCTTACCTTATTCCTGAGGTCTTCAATCAGTGGATAATATTTGCTGTAATCGCTCTGTGAAGCATCTGCAGTCCCAGTTCCTCGTGTTTCATACCATTCTCGAATTTTATTTTCTAGCTCAGTATTAGCCTCTTCTAGAGCTCGCACCTTATCCAGGTAGGAAGCTAATATATCATTAAGATTTTGCATAGTTTCTTTTTCTGATCCAGAAAGAAGGCCTCCATCATTGCCCGAGAGAATACCTAGAGAGCCACCTCCTGGGCTGCCCCCAAATCCCATCCCCAGCCCTCCAAAGCTACCTCCACCCAGGGCTCTCCCATAACCAGCACCCAGTCCTCCTGCCATGGAACTTCCGGAGCCACCCCCAAAGCCGGAACTAGAACCAAACATGGAAGCAGCAGAAAAGCCTCCCCCACAGCTGGCTCCAAAGCCAAAGGCACTTCCCCCATAACCACTTCCAACACTGGAAGCAGACATGCCCCTGGGTCTGCCTATCACACTCTGCGAGGAGAGCCGCCGGGACAGTCCGGGGGTGCGCACTGAGAGTGACATGGTGTTGTTGGAGAGATCCATGGCCTGGGGAAGGTGGCCACAACTGGAGAGGAAGTTGTGCCAGCAAGCCAGAAAGCTAAACTTATATAGGCTGCAAGATGGGTGTCGCAGTTGAAAAGTTCACTTTCTCCACTCAAAATTGGATCCTCCCCCCAGGTTTTTGGCCAGCTCAACAAGTGAATGATTTATGTATAATGAAAATTCATTGATACAGAAATAATCGAATAATCATTTCCATTAAATATTTGTTATATGAAAAAGAAAGCTGGGTGGAGTAGAGTCTGCTTGTCATAAGGAATTTTTCTTCTCCAAATTAGTCTGTTGCCTGTATTCCCAGCACTGCCTAGCGTCTTGTTCACAGTAGGAAGATAATGAGCGATTGCTGAATGGATACGTTAAATACTTCTTCCTAAACCTTATGCTTTTTTAAGTTCTTCCCTGATCTTTTCTGTTTGTTTCCTTTGGAAAATCCAGTGTAAACCATTTGTTTCCTTTGGAAAAACCAATCCAATGTAAAATCCAGTCATGATCAAGTATACCTTTTAGTGGAATACAGCTTCAGAAGCAGCTGTGAAATGCACTGGTGAAAGGTGGAGAATAAATATATTTTCCAGATGGATACTAGAATTTGCATTTTCAAGGATTTTAAAACCTTGGCTTTAGGATGTTGCATGTTTCTTTTCCCTCTTATTCTTCAACTTGGAAAAGTACTATTTTTGAGTACAGTTGTTTATAGTAGAGTTTATTATAGTTGTTTTAGCAGTTTTACCTTGTCTGATTGCTCACTGCTCTACACTCAGCATTTACTATGTTTATTCCTTCAACAGATATTGCCTGTAATGGTTGCTCAATAAATGTGTTGACTAGTTGAATGGATTGTGTAAACACTTCAGATTTTGTTGCCATTATCAATAAGGAGAAAGTGGAAACACAGTTCAAATTAAGAAATGATTAAAACCCCAAGTTTAAGAGGCTAGTGAACCATTTCAGTTGACTGCTATGATGAAAAAGGATAAATTTTACAATATAGAATAAATTAAATGTTATATTTTAAACTTTGTTGTGAAAACTTTGCAAAGCGTGCTTCAAGGAATTATATCCAGTATCTTTAATTTTTAAGACATAAAGTTCTTATACTTTCTTGTTTGGTATATTATTTATCTTTGAAATTGATATGGCTTATATATTGAACATGAGAACTAACGTTCTTACAGGAAATGCATTAACTTGAAAGAAGCCTGCTTTCAGAGAGAGTTGTAGATACCTGGAAACCGAGTAGTACAATTCCAGGGTGGTGGAATTCCCTTAGGAATTTAAATTGTGAGCATTTTGATTGGATAAGAAGGAATAAGGATTTTTCTTTTACATGTTTTCTTTGAGATGATGGCCCAATTCTCTACATGTCTCATTGCAAAATAGTTCTATAGTTTTTTTTTAAATATAGCTCTCTATGTATTTATAGTAGGAAATTTAGAAGATGCAGAAAACATAAAGAAGATGTATGTATATATGAGTATTTTATATACATTTTTGAACATAATTGATTCAATATAAGATTTTATAATCTGCTTTTCTCTTAAGATTATATACTTATCTATCACTTGAACTTTAATAATTGGGTACAGAACATGGATTGTGGATTCTTCGAAATCCTTTGTTGGATTC
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Task1_train_24264
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Gene KRT12 (keratin 12), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Corneal dystrophy, Meesmann, 1
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TTTGAAATTGTAATTTTTGGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGCGATGAATCCCAATACCACAGCATCCCAGGGAATAATTTTCCCTTTGGCTGGCTGCCGTGGCTGTAAATAGCAGCAGCCCCTCTCTAAGTGGAATTTCTAAAAGCCGTTGAAAATAAGTTACTCTTTTTGCTTAACGTTCTTCATGATTTAACTTAAAACACTGATACTTCTTTAGTGGCTTTGACTAAGATTTTACAGGTTCAGAACCATGGCCATTGCAACTTCCTGTGTAGAAATTTTGTGAAGCAAAAAGGAAATTAGTATTTCTTACCTATATCTGGGAGAGTTGAGCATGGAAAAGGAGGAAGGAATATAAAAATTAGTACATGGTTAATCTTTCCATTGTATGTGTCATCAGGAAAACAATGGTTGATACATTGAAAATTGAGGTTTAGAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAATAATTAGCTGGGCACGGTGGCAGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAACAAAAAACAAAAAACAAAAAAAGAAAATTGAGGTTTAGGACACTGGTAGGATTATGGTGTCAGTCACATCATGAGTTGAGTCAATAGCACACTACAAATATCGTGATCCATAGCCCTGGGTTTAAGTAACTTATAATTTAAGGACATTTAATCTGAATTGCATTAGATTCTAATTACTTTCTAGAACACCCTATGTGAATTTACCAAAACAGTAAATATATGGAGTATGTGAACTTCAGAAGATTTTATATCAATGAAGGCAGGACAGTAGGACAGAAGACATGGTGGGACACGCCCATGATCTTCAGTTTATTCGACTCACTTCATCCTGAAGTCCTCAGCAGCTAGTCTCGCATTGTCAATCTGCAAGAGGAGCTGGGCATTTCCAATGCTGGCTGAAATGATCTGGCAAAAGAGAGGGACACACACAAGATTGAAGCCCTAAAAGACTAGTATTATACAAATATATTTTTGACACAAAGGTGAAAATGGTGATATTAAATGCTGTTTTATTTAGAGTTTAAGACAGTTTCATTTTTCTAAGACAATATCTGTATAAAATAATATTGAGAAGTAAAGAAATGCAGATTTCCTACAGAAAGATAATGGAAATACAATCATTTCTTAGTAAATGATAAAGTGGAGTGAAACAACCTGGGATGAGAAAATTGCTGCAAGTACAGCTAAATTGGAAAATATCAAAGTTGTAGGTGATTATCACTGTAAAACATTGTAATGGTAAAAAGGAAAAAAAAAATTCCCAAAGCGCCTCCAAAAGAGATCTTACCTTATTCCTGAGGTCTTCAATCAGTGGATAATATTTGCTGTAATCGCTCTGTGAAGCATCTGCAGTCCCAGTTCCTCGTGTTTCATACCATTCTCGAATTTTATTTTCTAGCTCAGTATTAGCCTCTTCTAGAGCTCGCACCTTATCCAGGTAGGAAGCTAATCTATCATTAAGATTTTGCATAGTTTCTTTTTCTGATCCAGAAAGAAGGCCTCCATCATTGCCCGAGAGAATACCTAGAGAGCCACCTCCTGGGCTGCCCCCAAATCCCATCCCCAGCCCTCCAAAGCTACCTCCACCCAGGGCTCTCCCATAACCAGCACCCAGTCCTCCTGCCATGGAACTTCCGGAGCCACCCCCAAAGCCGGAACTAGAACCAAACATGGAAGCAGCAGAAAAGCCTCCCCCACAGCTGGCTCCAAAGCCAAAGGCACTTCCCCCATAACCACTTCCAACACTGGAAGCAGACATGCCCCTGGGTCTGCCTATCACACTCTGCGAGGAGAGCCGCCGGGACAGTCCGGGGGTGCGCACTGAGAGTGACATGGTGTTGTTGGAGAGATCCATGGCCTGGGGAAGGTGGCCACAACTGGAGAGGAAGTTGTGCCAGCAAGCCAGAAAGCTAAACTTATATAGGCTGCAAGATGGGTGTCGCAGTTGAAAAGTTCACTTTCTCCACTCAAAATTGGATCCTCCCCCCAGGTTTTTGGCCAGCTCAACAAGTGAATGATTTATGTATAATGAAAATTCATTGATACAGAAATAATCGAATAATCATTTCCATTAAATATTTGTTATATGAAAAAGAAAGCTGGGTGGAGTAGAGTCTGCTTGTCATAAGGAATTTTTCTTCTCCAAATTAGTCTGTTGCCTGTATTCCCAGCACTGCCTAGCGTCTTGTTCACAGTAGGAAGATAATGAGCGATTGCTGAATGGATACGTTAAATACTTCTTCCTAAACCTTATGCTTTTTTAAGTTCTTCCCTGATCTTTTCTGTTTGTTTCCTTTGGAAAATCCAGTGTAAACCATTTGTTTCCTTTGGAAAAACCAATCCAATGTAAAATCCAGTCATGATCAAGTATACCTTTTAGTGGAATACAGCTTCAGAAGCAGCTGTGAAATGCACTGGTGAAAGGTGGAGAATAAATATATTTTCCAGATGGATACTAGAATTTGCATTTTCAAGGATTTTAAAACCTTGGCTTTAGGATGTTGCATGTTTCTTTTCCCTCTTATTCTTCAACTTGGAAAAGTACTATTTTTGAGTACAGTTGTTTATAGTAGAGTTTATTATAGTTGTTTTAGCAGTTTTACCTTGTCTGATTGCTCACTGCTCTACACTCAGCATTTACTATGTTTATTCCTTCAACAGATATTGCCTGTAATGGTTGCTCAATAAATGTGTTGACTAGTTGAATGGATTGTGTAAACACTTCAGATTTTGTTGCCATTATCAATAAGGAGAAAGTGGAAACACAGTTCAAATTAAGAAATGATTAAAACCCCAAGTTTAAGAGGCTAGTGAACCATTTCAGTTGACTGCTATGATGAAAAAGGATAAATTTTACAATATAGAATAAATTAAATGTTATATTTTAAACTTTGTTGTGAAAACTTTGCAAAGCGTGCTTCAAGGAATTATATCCAGTATCTTTAATTTTTAAGACATAAAGTTCTTATACTTTCTTGTTTGGTATATTATTTATCTTTGAAATTGATATGGCTTATATATTGAACATGAGAACTAACGTTCTTACAGGAAATGCATTAACTTGAAAGAAGCCTGCTTTCAGAGAGAGTTGTAGATACCTGGAAACCGAGTAGTACAATTCCAGGGTGGTGGAATTCCCTTAGGAATTTAAATTGTGAGCATTTTGATTGGATAAGAAGGAATAAGGATTTTTCTTTTACATGTTTTCTTTGAGATGATGGCCCAATTCTCTACATGTCTCATTGCAAAATAGTTCTATAGTTTTTTTTTAAATATAGCTCTCTATGTATTTATAGTAGGAAATTTAGAAGATGCAGAAAACATAAAGAAGATGTATGTATATATGAGTATTTTATATACATTTTTGAACATAATTGATTCAATATAAGATTTTATAATCTGCTTTTCTCTTAAGATTATATACTTATCTATCACTTGAACTTTAATAATTGGGTACAGAACATGGATTGTGGATTCTTCGAAATCCTTTGTTGGATTC
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TTTGAAATTGTAATTTTTGGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGCGATGAATCCCAATACCACAGCATCCCAGGGAATAATTTTCCCTTTGGCTGGCTGCCGTGGCTGTAAATAGCAGCAGCCCCTCTCTAAGTGGAATTTCTAAAAGCCGTTGAAAATAAGTTACTCTTTTTGCTTAACGTTCTTCATGATTTAACTTAAAACACTGATACTTCTTTAGTGGCTTTGACTAAGATTTTACAGGTTCAGAACCATGGCCATTGCAACTTCCTGTGTAGAAATTTTGTGAAGCAAAAAGGAAATTAGTATTTCTTACCTATATCTGGGAGAGTTGAGCATGGAAAAGGAGGAAGGAATATAAAAATTAGTACATGGTTAATCTTTCCATTGTATGTGTCATCAGGAAAACAATGGTTGATACATTGAAAATTGAGGTTTAGAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAATAATTAGCTGGGCACGGTGGCAGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAACAAAAAACAAAAAACAAAAAAAGAAAATTGAGGTTTAGGACACTGGTAGGATTATGGTGTCAGTCACATCATGAGTTGAGTCAATAGCACACTACAAATATCGTGATCCATAGCCCTGGGTTTAAGTAACTTATAATTTAAGGACATTTAATCTGAATTGCATTAGATTCTAATTACTTTCTAGAACACCCTATGTGAATTTACCAAAACAGTAAATATATGGAGTATGTGAACTTCAGAAGATTTTATATCAATGAAGGCAGGACAGTAGGACAGAAGACATGGTGGGACACGCCCATGATCTTCAGTTTATTCGACTCACTTCATCCTGAAGTCCTCAGCAGCTAGTCTCGCATTGTCAATCTGCAAGAGGAGCTGGGCATTTCCAATGCTGGCTGAAATGATCTGGCAAAAGAGAGGGACACACACAAGATTGAAGCCCTAAAAGACTAGTATTATACAAATATATTTTTGACACAAAGGTGAAAATGGTGATATTAAATGCTGTTTTATTTAGAGTTTAAGACAGTTTCATTTTTCTAAGACAATATCTGTATAAAATAATATTGAGAAGTAAAGAAATGCAGATTTCCTACAGAAAGATAATGGAAATACAATCATTTCTTAGTAAATGATAAAGTGGAGTGAAACAACCTGGGATGAGAAAATTGCTGCAAGTACAGCTAAATTGGAAAATATCAAAGTTGTAGGTGATTATCACTGTAAAACATTGTAATGGTAAAAAGGAAAAAAAAAATTCCCAAAGCGCCTCCAAAAGAGATCTTACCTTATTCCTGAGGTCTTCAATCAGTGGATAATATTTGCTGTAATCGCTCTGTGAAGCATCTGCAGTCCCAGTTCCTCGTGTTTCATACCATTCTCGAATTTTATTTTCTAGCTCAGTATTAGCCTCTTCTAGAGCTCGCACCTTATCCAGGTAGGAAGCTAATGTATCATTAAGATTTTGCATAGTTTCTTTTTCTGATCCAGAAAGAAGGCCTCCATCATTGCCCGAGAGAATACCTAGAGAGCCACCTCCTGGGCTGCCCCCAAATCCCATCCCCAGCCCTCCAAAGCTACCTCCACCCAGGGCTCTCCCATAACCAGCACCCAGTCCTCCTGCCATGGAACTTCCGGAGCCACCCCCAAAGCCGGAACTAGAACCAAACATGGAAGCAGCAGAAAAGCCTCCCCCACAGCTGGCTCCAAAGCCAAAGGCACTTCCCCCATAACCACTTCCAACACTGGAAGCAGACATGCCCCTGGGTCTGCCTATCACACTCTGCGAGGAGAGCCGCCGGGACAGTCCGGGGGTGCGCACTGAGAGTGACATGGTGTTGTTGGAGAGATCCATGGCCTGGGGAAGGTGGCCACAACTGGAGAGGAAGTTGTGCCAGCAAGCCAGAAAGCTAAACTTATATAGGCTGCAAGATGGGTGTCGCAGTTGAAAAGTTCACTTTCTCCACTCAAAATTGGATCCTCCCCCCAGGTTTTTGGCCAGCTCAACAAGTGAATGATTTATGTATAATGAAAATTCATTGATACAGAAATAATCGAATAATCATTTCCATTAAATATTTGTTATATGAAAAAGAAAGCTGGGTGGAGTAGAGTCTGCTTGTCATAAGGAATTTTTCTTCTCCAAATTAGTCTGTTGCCTGTATTCCCAGCACTGCCTAGCGTCTTGTTCACAGTAGGAAGATAATGAGCGATTGCTGAATGGATACGTTAAATACTTCTTCCTAAACCTTATGCTTTTTTAAGTTCTTCCCTGATCTTTTCTGTTTGTTTCCTTTGGAAAATCCAGTGTAAACCATTTGTTTCCTTTGGAAAAACCAATCCAATGTAAAATCCAGTCATGATCAAGTATACCTTTTAGTGGAATACAGCTTCAGAAGCAGCTGTGAAATGCACTGGTGAAAGGTGGAGAATAAATATATTTTCCAGATGGATACTAGAATTTGCATTTTCAAGGATTTTAAAACCTTGGCTTTAGGATGTTGCATGTTTCTTTTCCCTCTTATTCTTCAACTTGGAAAAGTACTATTTTTGAGTACAGTTGTTTATAGTAGAGTTTATTATAGTTGTTTTAGCAGTTTTACCTTGTCTGATTGCTCACTGCTCTACACTCAGCATTTACTATGTTTATTCCTTCAACAGATATTGCCTGTAATGGTTGCTCAATAAATGTGTTGACTAGTTGAATGGATTGTGTAAACACTTCAGATTTTGTTGCCATTATCAATAAGGAGAAAGTGGAAACACAGTTCAAATTAAGAAATGATTAAAACCCCAAGTTTAAGAGGCTAGTGAACCATTTCAGTTGACTGCTATGATGAAAAAGGATAAATTTTACAATATAGAATAAATTAAATGTTATATTTTAAACTTTGTTGTGAAAACTTTGCAAAGCGTGCTTCAAGGAATTATATCCAGTATCTTTAATTTTTAAGACATAAAGTTCTTATACTTTCTTGTTTGGTATATTATTTATCTTTGAAATTGATATGGCTTATATATTGAACATGAGAACTAACGTTCTTACAGGAAATGCATTAACTTGAAAGAAGCCTGCTTTCAGAGAGAGTTGTAGATACCTGGAAACCGAGTAGTACAATTCCAGGGTGGTGGAATTCCCTTAGGAATTTAAATTGTGAGCATTTTGATTGGATAAGAAGGAATAAGGATTTTTCTTTTACATGTTTTCTTTGAGATGATGGCCCAATTCTCTACATGTCTCATTGCAAAATAGTTCTATAGTTTTTTTTTAAATATAGCTCTCTATGTATTTATAGTAGGAAATTTAGAAGATGCAGAAAACATAAAGAAGATGTATGTATATATGAGTATTTTATATACATTTTTGAACATAATTGATTCAATATAAGATTTTATAATCTGCTTTTCTCTTAAGATTATATACTTATCTATCACTTGAACTTTAATAATTGGGTACAGAACATGGATTGTGGATTCTTCGAAATCCTTTGTTGGATTC
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Task1_train_24265
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Consider this mutation in KRT12 (keratin 12) on Chromosome 17. Is this a benign change or a disease-causing variant?
|
Pathogenic; Corneal dystrophy, Meesmann, 1
|
TTGAAATTGTAATTTTTGGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGCGATGAATCCCAATACCACAGCATCCCAGGGAATAATTTTCCCTTTGGCTGGCTGCCGTGGCTGTAAATAGCAGCAGCCCCTCTCTAAGTGGAATTTCTAAAAGCCGTTGAAAATAAGTTACTCTTTTTGCTTAACGTTCTTCATGATTTAACTTAAAACACTGATACTTCTTTAGTGGCTTTGACTAAGATTTTACAGGTTCAGAACCATGGCCATTGCAACTTCCTGTGTAGAAATTTTGTGAAGCAAAAAGGAAATTAGTATTTCTTACCTATATCTGGGAGAGTTGAGCATGGAAAAGGAGGAAGGAATATAAAAATTAGTACATGGTTAATCTTTCCATTGTATGTGTCATCAGGAAAACAATGGTTGATACATTGAAAATTGAGGTTTAGAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAATAATTAGCTGGGCACGGTGGCAGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAACAAAAAACAAAAAACAAAAAAAGAAAATTGAGGTTTAGGACACTGGTAGGATTATGGTGTCAGTCACATCATGAGTTGAGTCAATAGCACACTACAAATATCGTGATCCATAGCCCTGGGTTTAAGTAACTTATAATTTAAGGACATTTAATCTGAATTGCATTAGATTCTAATTACTTTCTAGAACACCCTATGTGAATTTACCAAAACAGTAAATATATGGAGTATGTGAACTTCAGAAGATTTTATATCAATGAAGGCAGGACAGTAGGACAGAAGACATGGTGGGACACGCCCATGATCTTCAGTTTATTCGACTCACTTCATCCTGAAGTCCTCAGCAGCTAGTCTCGCATTGTCAATCTGCAAGAGGAGCTGGGCATTTCCAATGCTGGCTGAAATGATCTGGCAAAAGAGAGGGACACACACAAGATTGAAGCCCTAAAAGACTAGTATTATACAAATATATTTTTGACACAAAGGTGAAAATGGTGATATTAAATGCTGTTTTATTTAGAGTTTAAGACAGTTTCATTTTTCTAAGACAATATCTGTATAAAATAATATTGAGAAGTAAAGAAATGCAGATTTCCTACAGAAAGATAATGGAAATACAATCATTTCTTAGTAAATGATAAAGTGGAGTGAAACAACCTGGGATGAGAAAATTGCTGCAAGTACAGCTAAATTGGAAAATATCAAAGTTGTAGGTGATTATCACTGTAAAACATTGTAATGGTAAAAAGGAAAAAAAAAATTCCCAAAGCGCCTCCAAAAGAGATCTTACCTTATTCCTGAGGTCTTCAATCAGTGGATAATATTTGCTGTAATCGCTCTGTGAAGCATCTGCAGTCCCAGTTCCTCGTGTTTCATACCATTCTCGAATTTTATTTTCTAGCTCAGTATTAGCCTCTTCTAGAGCTCGCACCTTATCCAGGTAGGAAGCTAATCTATCATTAAGATTTTGCATAGTTTCTTTTTCTGATCCAGAAAGAAGGCCTCCATCATTGCCCGAGAGAATACCTAGAGAGCCACCTCCTGGGCTGCCCCCAAATCCCATCCCCAGCCCTCCAAAGCTACCTCCACCCAGGGCTCTCCCATAACCAGCACCCAGTCCTCCTGCCATGGAACTTCCGGAGCCACCCCCAAAGCCGGAACTAGAACCAAACATGGAAGCAGCAGAAAAGCCTCCCCCACAGCTGGCTCCAAAGCCAAAGGCACTTCCCCCATAACCACTTCCAACACTGGAAGCAGACATGCCCCTGGGTCTGCCTATCACACTCTGCGAGGAGAGCCGCCGGGACAGTCCGGGGGTGCGCACTGAGAGTGACATGGTGTTGTTGGAGAGATCCATGGCCTGGGGAAGGTGGCCACAACTGGAGAGGAAGTTGTGCCAGCAAGCCAGAAAGCTAAACTTATATAGGCTGCAAGATGGGTGTCGCAGTTGAAAAGTTCACTTTCTCCACTCAAAATTGGATCCTCCCCCCAGGTTTTTGGCCAGCTCAACAAGTGAATGATTTATGTATAATGAAAATTCATTGATACAGAAATAATCGAATAATCATTTCCATTAAATATTTGTTATATGAAAAAGAAAGCTGGGTGGAGTAGAGTCTGCTTGTCATAAGGAATTTTTCTTCTCCAAATTAGTCTGTTGCCTGTATTCCCAGCACTGCCTAGCGTCTTGTTCACAGTAGGAAGATAATGAGCGATTGCTGAATGGATACGTTAAATACTTCTTCCTAAACCTTATGCTTTTTTAAGTTCTTCCCTGATCTTTTCTGTTTGTTTCCTTTGGAAAATCCAGTGTAAACCATTTGTTTCCTTTGGAAAAACCAATCCAATGTAAAATCCAGTCATGATCAAGTATACCTTTTAGTGGAATACAGCTTCAGAAGCAGCTGTGAAATGCACTGGTGAAAGGTGGAGAATAAATATATTTTCCAGATGGATACTAGAATTTGCATTTTCAAGGATTTTAAAACCTTGGCTTTAGGATGTTGCATGTTTCTTTTCCCTCTTATTCTTCAACTTGGAAAAGTACTATTTTTGAGTACAGTTGTTTATAGTAGAGTTTATTATAGTTGTTTTAGCAGTTTTACCTTGTCTGATTGCTCACTGCTCTACACTCAGCATTTACTATGTTTATTCCTTCAACAGATATTGCCTGTAATGGTTGCTCAATAAATGTGTTGACTAGTTGAATGGATTGTGTAAACACTTCAGATTTTGTTGCCATTATCAATAAGGAGAAAGTGGAAACACAGTTCAAATTAAGAAATGATTAAAACCCCAAGTTTAAGAGGCTAGTGAACCATTTCAGTTGACTGCTATGATGAAAAAGGATAAATTTTACAATATAGAATAAATTAAATGTTATATTTTAAACTTTGTTGTGAAAACTTTGCAAAGCGTGCTTCAAGGAATTATATCCAGTATCTTTAATTTTTAAGACATAAAGTTCTTATACTTTCTTGTTTGGTATATTATTTATCTTTGAAATTGATATGGCTTATATATTGAACATGAGAACTAACGTTCTTACAGGAAATGCATTAACTTGAAAGAAGCCTGCTTTCAGAGAGAGTTGTAGATACCTGGAAACCGAGTAGTACAATTCCAGGGTGGTGGAATTCCCTTAGGAATTTAAATTGTGAGCATTTTGATTGGATAAGAAGGAATAAGGATTTTTCTTTTACATGTTTTCTTTGAGATGATGGCCCAATTCTCTACATGTCTCATTGCAAAATAGTTCTATAGTTTTTTTTTAAATATAGCTCTCTATGTATTTATAGTAGGAAATTTAGAAGATGCAGAAAACATAAAGAAGATGTATGTATATATGAGTATTTTATATACATTTTTGAACATAATTGATTCAATATAAGATTTTATAATCTGCTTTTCTCTTAAGATTATATACTTATCTATCACTTGAACTTTAATAATTGGGTACAGAACATGGATTGTGGATTCTTCGAAATCCTTTGTTGGATTCA
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TTGAAATTGTAATTTTTGGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGCGATGAATCCCAATACCACAGCATCCCAGGGAATAATTTTCCCTTTGGCTGGCTGCCGTGGCTGTAAATAGCAGCAGCCCCTCTCTAAGTGGAATTTCTAAAAGCCGTTGAAAATAAGTTACTCTTTTTGCTTAACGTTCTTCATGATTTAACTTAAAACACTGATACTTCTTTAGTGGCTTTGACTAAGATTTTACAGGTTCAGAACCATGGCCATTGCAACTTCCTGTGTAGAAATTTTGTGAAGCAAAAAGGAAATTAGTATTTCTTACCTATATCTGGGAGAGTTGAGCATGGAAAAGGAGGAAGGAATATAAAAATTAGTACATGGTTAATCTTTCCATTGTATGTGTCATCAGGAAAACAATGGTTGATACATTGAAAATTGAGGTTTAGAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAATAATTAGCTGGGCACGGTGGCAGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAACAAAAAACAAAAAACAAAAAAAGAAAATTGAGGTTTAGGACACTGGTAGGATTATGGTGTCAGTCACATCATGAGTTGAGTCAATAGCACACTACAAATATCGTGATCCATAGCCCTGGGTTTAAGTAACTTATAATTTAAGGACATTTAATCTGAATTGCATTAGATTCTAATTACTTTCTAGAACACCCTATGTGAATTTACCAAAACAGTAAATATATGGAGTATGTGAACTTCAGAAGATTTTATATCAATGAAGGCAGGACAGTAGGACAGAAGACATGGTGGGACACGCCCATGATCTTCAGTTTATTCGACTCACTTCATCCTGAAGTCCTCAGCAGCTAGTCTCGCATTGTCAATCTGCAAGAGGAGCTGGGCATTTCCAATGCTGGCTGAAATGATCTGGCAAAAGAGAGGGACACACACAAGATTGAAGCCCTAAAAGACTAGTATTATACAAATATATTTTTGACACAAAGGTGAAAATGGTGATATTAAATGCTGTTTTATTTAGAGTTTAAGACAGTTTCATTTTTCTAAGACAATATCTGTATAAAATAATATTGAGAAGTAAAGAAATGCAGATTTCCTACAGAAAGATAATGGAAATACAATCATTTCTTAGTAAATGATAAAGTGGAGTGAAACAACCTGGGATGAGAAAATTGCTGCAAGTACAGCTAAATTGGAAAATATCAAAGTTGTAGGTGATTATCACTGTAAAACATTGTAATGGTAAAAAGGAAAAAAAAAATTCCCAAAGCGCCTCCAAAAGAGATCTTACCTTATTCCTGAGGTCTTCAATCAGTGGATAATATTTGCTGTAATCGCTCTGTGAAGCATCTGCAGTCCCAGTTCCTCGTGTTTCATACCATTCTCGAATTTTATTTTCTAGCTCAGTATTAGCCTCTTCTAGAGCTCGCACCTTATCCAGGTAGGAAGCTAATCCATCATTAAGATTTTGCATAGTTTCTTTTTCTGATCCAGAAAGAAGGCCTCCATCATTGCCCGAGAGAATACCTAGAGAGCCACCTCCTGGGCTGCCCCCAAATCCCATCCCCAGCCCTCCAAAGCTACCTCCACCCAGGGCTCTCCCATAACCAGCACCCAGTCCTCCTGCCATGGAACTTCCGGAGCCACCCCCAAAGCCGGAACTAGAACCAAACATGGAAGCAGCAGAAAAGCCTCCCCCACAGCTGGCTCCAAAGCCAAAGGCACTTCCCCCATAACCACTTCCAACACTGGAAGCAGACATGCCCCTGGGTCTGCCTATCACACTCTGCGAGGAGAGCCGCCGGGACAGTCCGGGGGTGCGCACTGAGAGTGACATGGTGTTGTTGGAGAGATCCATGGCCTGGGGAAGGTGGCCACAACTGGAGAGGAAGTTGTGCCAGCAAGCCAGAAAGCTAAACTTATATAGGCTGCAAGATGGGTGTCGCAGTTGAAAAGTTCACTTTCTCCACTCAAAATTGGATCCTCCCCCCAGGTTTTTGGCCAGCTCAACAAGTGAATGATTTATGTATAATGAAAATTCATTGATACAGAAATAATCGAATAATCATTTCCATTAAATATTTGTTATATGAAAAAGAAAGCTGGGTGGAGTAGAGTCTGCTTGTCATAAGGAATTTTTCTTCTCCAAATTAGTCTGTTGCCTGTATTCCCAGCACTGCCTAGCGTCTTGTTCACAGTAGGAAGATAATGAGCGATTGCTGAATGGATACGTTAAATACTTCTTCCTAAACCTTATGCTTTTTTAAGTTCTTCCCTGATCTTTTCTGTTTGTTTCCTTTGGAAAATCCAGTGTAAACCATTTGTTTCCTTTGGAAAAACCAATCCAATGTAAAATCCAGTCATGATCAAGTATACCTTTTAGTGGAATACAGCTTCAGAAGCAGCTGTGAAATGCACTGGTGAAAGGTGGAGAATAAATATATTTTCCAGATGGATACTAGAATTTGCATTTTCAAGGATTTTAAAACCTTGGCTTTAGGATGTTGCATGTTTCTTTTCCCTCTTATTCTTCAACTTGGAAAAGTACTATTTTTGAGTACAGTTGTTTATAGTAGAGTTTATTATAGTTGTTTTAGCAGTTTTACCTTGTCTGATTGCTCACTGCTCTACACTCAGCATTTACTATGTTTATTCCTTCAACAGATATTGCCTGTAATGGTTGCTCAATAAATGTGTTGACTAGTTGAATGGATTGTGTAAACACTTCAGATTTTGTTGCCATTATCAATAAGGAGAAAGTGGAAACACAGTTCAAATTAAGAAATGATTAAAACCCCAAGTTTAAGAGGCTAGTGAACCATTTCAGTTGACTGCTATGATGAAAAAGGATAAATTTTACAATATAGAATAAATTAAATGTTATATTTTAAACTTTGTTGTGAAAACTTTGCAAAGCGTGCTTCAAGGAATTATATCCAGTATCTTTAATTTTTAAGACATAAAGTTCTTATACTTTCTTGTTTGGTATATTATTTATCTTTGAAATTGATATGGCTTATATATTGAACATGAGAACTAACGTTCTTACAGGAAATGCATTAACTTGAAAGAAGCCTGCTTTCAGAGAGAGTTGTAGATACCTGGAAACCGAGTAGTACAATTCCAGGGTGGTGGAATTCCCTTAGGAATTTAAATTGTGAGCATTTTGATTGGATAAGAAGGAATAAGGATTTTTCTTTTACATGTTTTCTTTGAGATGATGGCCCAATTCTCTACATGTCTCATTGCAAAATAGTTCTATAGTTTTTTTTTAAATATAGCTCTCTATGTATTTATAGTAGGAAATTTAGAAGATGCAGAAAACATAAAGAAGATGTATGTATATATGAGTATTTTATATACATTTTTGAACATAATTGATTCAATATAAGATTTTATAATCTGCTTTTCTCTTAAGATTATATACTTATCTATCACTTGAACTTTAATAATTGGGTACAGAACATGGATTGTGGATTCTTCGAAATCCTTTGTTGGATTCA
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Task1_train_24266
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Consider this mutation in KRT12 (keratin 12) on Chromosome 17. Is this a benign change or a disease-causing variant?
|
Pathogenic; Corneal dystrophy, Meesmann, 1
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GTAATTTTTGGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGCGATGAATCCCAATACCACAGCATCCCAGGGAATAATTTTCCCTTTGGCTGGCTGCCGTGGCTGTAAATAGCAGCAGCCCCTCTCTAAGTGGAATTTCTAAAAGCCGTTGAAAATAAGTTACTCTTTTTGCTTAACGTTCTTCATGATTTAACTTAAAACACTGATACTTCTTTAGTGGCTTTGACTAAGATTTTACAGGTTCAGAACCATGGCCATTGCAACTTCCTGTGTAGAAATTTTGTGAAGCAAAAAGGAAATTAGTATTTCTTACCTATATCTGGGAGAGTTGAGCATGGAAAAGGAGGAAGGAATATAAAAATTAGTACATGGTTAATCTTTCCATTGTATGTGTCATCAGGAAAACAATGGTTGATACATTGAAAATTGAGGTTTAGAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAATAATTAGCTGGGCACGGTGGCAGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAACAAAAAACAAAAAACAAAAAAAGAAAATTGAGGTTTAGGACACTGGTAGGATTATGGTGTCAGTCACATCATGAGTTGAGTCAATAGCACACTACAAATATCGTGATCCATAGCCCTGGGTTTAAGTAACTTATAATTTAAGGACATTTAATCTGAATTGCATTAGATTCTAATTACTTTCTAGAACACCCTATGTGAATTTACCAAAACAGTAAATATATGGAGTATGTGAACTTCAGAAGATTTTATATCAATGAAGGCAGGACAGTAGGACAGAAGACATGGTGGGACACGCCCATGATCTTCAGTTTATTCGACTCACTTCATCCTGAAGTCCTCAGCAGCTAGTCTCGCATTGTCAATCTGCAAGAGGAGCTGGGCATTTCCAATGCTGGCTGAAATGATCTGGCAAAAGAGAGGGACACACACAAGATTGAAGCCCTAAAAGACTAGTATTATACAAATATATTTTTGACACAAAGGTGAAAATGGTGATATTAAATGCTGTTTTATTTAGAGTTTAAGACAGTTTCATTTTTCTAAGACAATATCTGTATAAAATAATATTGAGAAGTAAAGAAATGCAGATTTCCTACAGAAAGATAATGGAAATACAATCATTTCTTAGTAAATGATAAAGTGGAGTGAAACAACCTGGGATGAGAAAATTGCTGCAAGTACAGCTAAATTGGAAAATATCAAAGTTGTAGGTGATTATCACTGTAAAACATTGTAATGGTAAAAAGGAAAAAAAAAATTCCCAAAGCGCCTCCAAAAGAGATCTTACCTTATTCCTGAGGTCTTCAATCAGTGGATAATATTTGCTGTAATCGCTCTGTGAAGCATCTGCAGTCCCAGTTCCTCGTGTTTCATACCATTCTCGAATTTTATTTTCTAGCTCAGTATTAGCCTCTTCTAGAGCTCGCACCTTATCCAGGTAGGAAGCTAATCTATCATTAAGATTTTGCATAGTTTCTTTTTCTGATCCAGAAAGAAGGCCTCCATCATTGCCCGAGAGAATACCTAGAGAGCCACCTCCTGGGCTGCCCCCAAATCCCATCCCCAGCCCTCCAAAGCTACCTCCACCCAGGGCTCTCCCATAACCAGCACCCAGTCCTCCTGCCATGGAACTTCCGGAGCCACCCCCAAAGCCGGAACTAGAACCAAACATGGAAGCAGCAGAAAAGCCTCCCCCACAGCTGGCTCCAAAGCCAAAGGCACTTCCCCCATAACCACTTCCAACACTGGAAGCAGACATGCCCCTGGGTCTGCCTATCACACTCTGCGAGGAGAGCCGCCGGGACAGTCCGGGGGTGCGCACTGAGAGTGACATGGTGTTGTTGGAGAGATCCATGGCCTGGGGAAGGTGGCCACAACTGGAGAGGAAGTTGTGCCAGCAAGCCAGAAAGCTAAACTTATATAGGCTGCAAGATGGGTGTCGCAGTTGAAAAGTTCACTTTCTCCACTCAAAATTGGATCCTCCCCCCAGGTTTTTGGCCAGCTCAACAAGTGAATGATTTATGTATAATGAAAATTCATTGATACAGAAATAATCGAATAATCATTTCCATTAAATATTTGTTATATGAAAAAGAAAGCTGGGTGGAGTAGAGTCTGCTTGTCATAAGGAATTTTTCTTCTCCAAATTAGTCTGTTGCCTGTATTCCCAGCACTGCCTAGCGTCTTGTTCACAGTAGGAAGATAATGAGCGATTGCTGAATGGATACGTTAAATACTTCTTCCTAAACCTTATGCTTTTTTAAGTTCTTCCCTGATCTTTTCTGTTTGTTTCCTTTGGAAAATCCAGTGTAAACCATTTGTTTCCTTTGGAAAAACCAATCCAATGTAAAATCCAGTCATGATCAAGTATACCTTTTAGTGGAATACAGCTTCAGAAGCAGCTGTGAAATGCACTGGTGAAAGGTGGAGAATAAATATATTTTCCAGATGGATACTAGAATTTGCATTTTCAAGGATTTTAAAACCTTGGCTTTAGGATGTTGCATGTTTCTTTTCCCTCTTATTCTTCAACTTGGAAAAGTACTATTTTTGAGTACAGTTGTTTATAGTAGAGTTTATTATAGTTGTTTTAGCAGTTTTACCTTGTCTGATTGCTCACTGCTCTACACTCAGCATTTACTATGTTTATTCCTTCAACAGATATTGCCTGTAATGGTTGCTCAATAAATGTGTTGACTAGTTGAATGGATTGTGTAAACACTTCAGATTTTGTTGCCATTATCAATAAGGAGAAAGTGGAAACACAGTTCAAATTAAGAAATGATTAAAACCCCAAGTTTAAGAGGCTAGTGAACCATTTCAGTTGACTGCTATGATGAAAAAGGATAAATTTTACAATATAGAATAAATTAAATGTTATATTTTAAACTTTGTTGTGAAAACTTTGCAAAGCGTGCTTCAAGGAATTATATCCAGTATCTTTAATTTTTAAGACATAAAGTTCTTATACTTTCTTGTTTGGTATATTATTTATCTTTGAAATTGATATGGCTTATATATTGAACATGAGAACTAACGTTCTTACAGGAAATGCATTAACTTGAAAGAAGCCTGCTTTCAGAGAGAGTTGTAGATACCTGGAAACCGAGTAGTACAATTCCAGGGTGGTGGAATTCCCTTAGGAATTTAAATTGTGAGCATTTTGATTGGATAAGAAGGAATAAGGATTTTTCTTTTACATGTTTTCTTTGAGATGATGGCCCAATTCTCTACATGTCTCATTGCAAAATAGTTCTATAGTTTTTTTTTAAATATAGCTCTCTATGTATTTATAGTAGGAAATTTAGAAGATGCAGAAAACATAAAGAAGATGTATGTATATATGAGTATTTTATATACATTTTTGAACATAATTGATTCAATATAAGATTTTATAATCTGCTTTTCTCTTAAGATTATATACTTATCTATCACTTGAACTTTAATAATTGGGTACAGAACATGGATTGTGGATTCTTCGAAATCCTTTGTTGGATTCAGATTTCTA
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GTAATTTTTGGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGCGATGAATCCCAATACCACAGCATCCCAGGGAATAATTTTCCCTTTGGCTGGCTGCCGTGGCTGTAAATAGCAGCAGCCCCTCTCTAAGTGGAATTTCTAAAAGCCGTTGAAAATAAGTTACTCTTTTTGCTTAACGTTCTTCATGATTTAACTTAAAACACTGATACTTCTTTAGTGGCTTTGACTAAGATTTTACAGGTTCAGAACCATGGCCATTGCAACTTCCTGTGTAGAAATTTTGTGAAGCAAAAAGGAAATTAGTATTTCTTACCTATATCTGGGAGAGTTGAGCATGGAAAAGGAGGAAGGAATATAAAAATTAGTACATGGTTAATCTTTCCATTGTATGTGTCATCAGGAAAACAATGGTTGATACATTGAAAATTGAGGTTTAGAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAATAATTAGCTGGGCACGGTGGCAGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAACAAAAAACAAAAAACAAAAAAAGAAAATTGAGGTTTAGGACACTGGTAGGATTATGGTGTCAGTCACATCATGAGTTGAGTCAATAGCACACTACAAATATCGTGATCCATAGCCCTGGGTTTAAGTAACTTATAATTTAAGGACATTTAATCTGAATTGCATTAGATTCTAATTACTTTCTAGAACACCCTATGTGAATTTACCAAAACAGTAAATATATGGAGTATGTGAACTTCAGAAGATTTTATATCAATGAAGGCAGGACAGTAGGACAGAAGACATGGTGGGACACGCCCATGATCTTCAGTTTATTCGACTCACTTCATCCTGAAGTCCTCAGCAGCTAGTCTCGCATTGTCAATCTGCAAGAGGAGCTGGGCATTTCCAATGCTGGCTGAAATGATCTGGCAAAAGAGAGGGACACACACAAGATTGAAGCCCTAAAAGACTAGTATTATACAAATATATTTTTGACACAAAGGTGAAAATGGTGATATTAAATGCTGTTTTATTTAGAGTTTAAGACAGTTTCATTTTTCTAAGACAATATCTGTATAAAATAATATTGAGAAGTAAAGAAATGCAGATTTCCTACAGAAAGATAATGGAAATACAATCATTTCTTAGTAAATGATAAAGTGGAGTGAAACAACCTGGGATGAGAAAATTGCTGCAAGTACAGCTAAATTGGAAAATATCAAAGTTGTAGGTGATTATCACTGTAAAACATTGTAATGGTAAAAAGGAAAAAAAAAATTCCCAAAGCGCCTCCAAAAGAGATCTTACCTTATTCCTGAGGTCTTCAATCAGTGGATAATATTTGCTGTAATCGCTCTGTGAAGCATCTGCAGTCCCAGTTCCTCGTGTTTCATACCATTCTCGAATTTTATTTTCTAGCTCAGTATTAGCCTCTTCTAGAGCTCGCACCTTATCCAGGTAGGAAGCTAATCTATCATTAGGATTTTGCATAGTTTCTTTTTCTGATCCAGAAAGAAGGCCTCCATCATTGCCCGAGAGAATACCTAGAGAGCCACCTCCTGGGCTGCCCCCAAATCCCATCCCCAGCCCTCCAAAGCTACCTCCACCCAGGGCTCTCCCATAACCAGCACCCAGTCCTCCTGCCATGGAACTTCCGGAGCCACCCCCAAAGCCGGAACTAGAACCAAACATGGAAGCAGCAGAAAAGCCTCCCCCACAGCTGGCTCCAAAGCCAAAGGCACTTCCCCCATAACCACTTCCAACACTGGAAGCAGACATGCCCCTGGGTCTGCCTATCACACTCTGCGAGGAGAGCCGCCGGGACAGTCCGGGGGTGCGCACTGAGAGTGACATGGTGTTGTTGGAGAGATCCATGGCCTGGGGAAGGTGGCCACAACTGGAGAGGAAGTTGTGCCAGCAAGCCAGAAAGCTAAACTTATATAGGCTGCAAGATGGGTGTCGCAGTTGAAAAGTTCACTTTCTCCACTCAAAATTGGATCCTCCCCCCAGGTTTTTGGCCAGCTCAACAAGTGAATGATTTATGTATAATGAAAATTCATTGATACAGAAATAATCGAATAATCATTTCCATTAAATATTTGTTATATGAAAAAGAAAGCTGGGTGGAGTAGAGTCTGCTTGTCATAAGGAATTTTTCTTCTCCAAATTAGTCTGTTGCCTGTATTCCCAGCACTGCCTAGCGTCTTGTTCACAGTAGGAAGATAATGAGCGATTGCTGAATGGATACGTTAAATACTTCTTCCTAAACCTTATGCTTTTTTAAGTTCTTCCCTGATCTTTTCTGTTTGTTTCCTTTGGAAAATCCAGTGTAAACCATTTGTTTCCTTTGGAAAAACCAATCCAATGTAAAATCCAGTCATGATCAAGTATACCTTTTAGTGGAATACAGCTTCAGAAGCAGCTGTGAAATGCACTGGTGAAAGGTGGAGAATAAATATATTTTCCAGATGGATACTAGAATTTGCATTTTCAAGGATTTTAAAACCTTGGCTTTAGGATGTTGCATGTTTCTTTTCCCTCTTATTCTTCAACTTGGAAAAGTACTATTTTTGAGTACAGTTGTTTATAGTAGAGTTTATTATAGTTGTTTTAGCAGTTTTACCTTGTCTGATTGCTCACTGCTCTACACTCAGCATTTACTATGTTTATTCCTTCAACAGATATTGCCTGTAATGGTTGCTCAATAAATGTGTTGACTAGTTGAATGGATTGTGTAAACACTTCAGATTTTGTTGCCATTATCAATAAGGAGAAAGTGGAAACACAGTTCAAATTAAGAAATGATTAAAACCCCAAGTTTAAGAGGCTAGTGAACCATTTCAGTTGACTGCTATGATGAAAAAGGATAAATTTTACAATATAGAATAAATTAAATGTTATATTTTAAACTTTGTTGTGAAAACTTTGCAAAGCGTGCTTCAAGGAATTATATCCAGTATCTTTAATTTTTAAGACATAAAGTTCTTATACTTTCTTGTTTGGTATATTATTTATCTTTGAAATTGATATGGCTTATATATTGAACATGAGAACTAACGTTCTTACAGGAAATGCATTAACTTGAAAGAAGCCTGCTTTCAGAGAGAGTTGTAGATACCTGGAAACCGAGTAGTACAATTCCAGGGTGGTGGAATTCCCTTAGGAATTTAAATTGTGAGCATTTTGATTGGATAAGAAGGAATAAGGATTTTTCTTTTACATGTTTTCTTTGAGATGATGGCCCAATTCTCTACATGTCTCATTGCAAAATAGTTCTATAGTTTTTTTTTAAATATAGCTCTCTATGTATTTATAGTAGGAAATTTAGAAGATGCAGAAAACATAAAGAAGATGTATGTATATATGAGTATTTTATATACATTTTTGAACATAATTGATTCAATATAAGATTTTATAATCTGCTTTTCTCTTAAGATTATATACTTATCTATCACTTGAACTTTAATAATTGGGTACAGAACATGGATTGTGGATTCTTCGAAATCCTTTGTTGGATTCAGATTTCTA
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Task1_train_24267
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This mutation occurs in KRT12 (keratin 12) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; not provided
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GGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGCGATGAATCCCAATACCACAGCATCCCAGGGAATAATTTTCCCTTTGGCTGGCTGCCGTGGCTGTAAATAGCAGCAGCCCCTCTCTAAGTGGAATTTCTAAAAGCCGTTGAAAATAAGTTACTCTTTTTGCTTAACGTTCTTCATGATTTAACTTAAAACACTGATACTTCTTTAGTGGCTTTGACTAAGATTTTACAGGTTCAGAACCATGGCCATTGCAACTTCCTGTGTAGAAATTTTGTGAAGCAAAAAGGAAATTAGTATTTCTTACCTATATCTGGGAGAGTTGAGCATGGAAAAGGAGGAAGGAATATAAAAATTAGTACATGGTTAATCTTTCCATTGTATGTGTCATCAGGAAAACAATGGTTGATACATTGAAAATTGAGGTTTAGAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAATAATTAGCTGGGCACGGTGGCAGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAACAAAAAACAAAAAACAAAAAAAGAAAATTGAGGTTTAGGACACTGGTAGGATTATGGTGTCAGTCACATCATGAGTTGAGTCAATAGCACACTACAAATATCGTGATCCATAGCCCTGGGTTTAAGTAACTTATAATTTAAGGACATTTAATCTGAATTGCATTAGATTCTAATTACTTTCTAGAACACCCTATGTGAATTTACCAAAACAGTAAATATATGGAGTATGTGAACTTCAGAAGATTTTATATCAATGAAGGCAGGACAGTAGGACAGAAGACATGGTGGGACACGCCCATGATCTTCAGTTTATTCGACTCACTTCATCCTGAAGTCCTCAGCAGCTAGTCTCGCATTGTCAATCTGCAAGAGGAGCTGGGCATTTCCAATGCTGGCTGAAATGATCTGGCAAAAGAGAGGGACACACACAAGATTGAAGCCCTAAAAGACTAGTATTATACAAATATATTTTTGACACAAAGGTGAAAATGGTGATATTAAATGCTGTTTTATTTAGAGTTTAAGACAGTTTCATTTTTCTAAGACAATATCTGTATAAAATAATATTGAGAAGTAAAGAAATGCAGATTTCCTACAGAAAGATAATGGAAATACAATCATTTCTTAGTAAATGATAAAGTGGAGTGAAACAACCTGGGATGAGAAAATTGCTGCAAGTACAGCTAAATTGGAAAATATCAAAGTTGTAGGTGATTATCACTGTAAAACATTGTAATGGTAAAAAGGAAAAAAAAAATTCCCAAAGCGCCTCCAAAAGAGATCTTACCTTATTCCTGAGGTCTTCAATCAGTGGATAATATTTGCTGTAATCGCTCTGTGAAGCATCTGCAGTCCCAGTTCCTCGTGTTTCATACCATTCTCGAATTTTATTTTCTAGCTCAGTATTAGCCTCTTCTAGAGCTCGCACCTTATCCAGGTAGGAAGCTAATCTATCATTAAGATTTTGCATAGTTTCTTTTTCTGATCCAGAAAGAAGGCCTCCATCATTGCCCGAGAGAATACCTAGAGAGCCACCTCCTGGGCTGCCCCCAAATCCCATCCCCAGCCCTCCAAAGCTACCTCCACCCAGGGCTCTCCCATAACCAGCACCCAGTCCTCCTGCCATGGAACTTCCGGAGCCACCCCCAAAGCCGGAACTAGAACCAAACATGGAAGCAGCAGAAAAGCCTCCCCCACAGCTGGCTCCAAAGCCAAAGGCACTTCCCCCATAACCACTTCCAACACTGGAAGCAGACATGCCCCTGGGTCTGCCTATCACACTCTGCGAGGAGAGCCGCCGGGACAGTCCGGGGGTGCGCACTGAGAGTGACATGGTGTTGTTGGAGAGATCCATGGCCTGGGGAAGGTGGCCACAACTGGAGAGGAAGTTGTGCCAGCAAGCCAGAAAGCTAAACTTATATAGGCTGCAAGATGGGTGTCGCAGTTGAAAAGTTCACTTTCTCCACTCAAAATTGGATCCTCCCCCCAGGTTTTTGGCCAGCTCAACAAGTGAATGATTTATGTATAATGAAAATTCATTGATACAGAAATAATCGAATAATCATTTCCATTAAATATTTGTTATATGAAAAAGAAAGCTGGGTGGAGTAGAGTCTGCTTGTCATAAGGAATTTTTCTTCTCCAAATTAGTCTGTTGCCTGTATTCCCAGCACTGCCTAGCGTCTTGTTCACAGTAGGAAGATAATGAGCGATTGCTGAATGGATACGTTAAATACTTCTTCCTAAACCTTATGCTTTTTTAAGTTCTTCCCTGATCTTTTCTGTTTGTTTCCTTTGGAAAATCCAGTGTAAACCATTTGTTTCCTTTGGAAAAACCAATCCAATGTAAAATCCAGTCATGATCAAGTATACCTTTTAGTGGAATACAGCTTCAGAAGCAGCTGTGAAATGCACTGGTGAAAGGTGGAGAATAAATATATTTTCCAGATGGATACTAGAATTTGCATTTTCAAGGATTTTAAAACCTTGGCTTTAGGATGTTGCATGTTTCTTTTCCCTCTTATTCTTCAACTTGGAAAAGTACTATTTTTGAGTACAGTTGTTTATAGTAGAGTTTATTATAGTTGTTTTAGCAGTTTTACCTTGTCTGATTGCTCACTGCTCTACACTCAGCATTTACTATGTTTATTCCTTCAACAGATATTGCCTGTAATGGTTGCTCAATAAATGTGTTGACTAGTTGAATGGATTGTGTAAACACTTCAGATTTTGTTGCCATTATCAATAAGGAGAAAGTGGAAACACAGTTCAAATTAAGAAATGATTAAAACCCCAAGTTTAAGAGGCTAGTGAACCATTTCAGTTGACTGCTATGATGAAAAAGGATAAATTTTACAATATAGAATAAATTAAATGTTATATTTTAAACTTTGTTGTGAAAACTTTGCAAAGCGTGCTTCAAGGAATTATATCCAGTATCTTTAATTTTTAAGACATAAAGTTCTTATACTTTCTTGTTTGGTATATTATTTATCTTTGAAATTGATATGGCTTATATATTGAACATGAGAACTAACGTTCTTACAGGAAATGCATTAACTTGAAAGAAGCCTGCTTTCAGAGAGAGTTGTAGATACCTGGAAACCGAGTAGTACAATTCCAGGGTGGTGGAATTCCCTTAGGAATTTAAATTGTGAGCATTTTGATTGGATAAGAAGGAATAAGGATTTTTCTTTTACATGTTTTCTTTGAGATGATGGCCCAATTCTCTACATGTCTCATTGCAAAATAGTTCTATAGTTTTTTTTTAAATATAGCTCTCTATGTATTTATAGTAGGAAATTTAGAAGATGCAGAAAACATAAAGAAGATGTATGTATATATGAGTATTTTATATACATTTTTGAACATAATTGATTCAATATAAGATTTTATAATCTGCTTTTCTCTTAAGATTATATACTTATCTATCACTTGAACTTTAATAATTGGGTACAGAACATGGATTGTGGATTCTTCGAAATCCTTTGTTGGATTCAGATTTCTAAATTCAGTT
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GGGTCTGGGAGAAAAAAAAAAGTAGCTGAGTGAGGCTGCCCTGTCTGACTCACATCCTCGTGGTTCTTCTTCATGTAGGCCAGCTCCTCGTTCAGGCTCTCGATCTGCATCTCCAGGTCGGTCCTGGTCAGGGTCAGCTCGTCCAGCACCCGGCGCAGGCCATTGATGTCGGCCTCTACGCCCTGGCGCAGGGCCAGTTCATTCTCATACCTGAAAACCAAGTGCAAAGCAGTTGAGGGAATCAACACAACCATTTGAACAAGGCCACTGATCTTCAGGGCTATTTCTTGCTTAAATCTGTGCACCTACTTAATAATGGCAGCATTGTAGTGTATGATGCAGTTTTTGCTGTTGTGTTTTTCCTTTCCTTTTTTCCCACCATTGTTTACTGTTCAGTTGGGGAGGAGAAGAAAAGTGAATAAATTATAAGGCAATACTTTCCTACCAGCGATGAATCCCAATACCACAGCATCCCAGGGAATAATTTTCCCTTTGGCTGGCTGCCGTGGCTGTAAATAGCAGCAGCCCCTCTCTAAGTGGAATTTCTAAAAGCCGTTGAAAATAAGTTACTCTTTTTGCTTAACGTTCTTCATGATTTAACTTAAAACACTGATACTTCTTTAGTGGCTTTGACTAAGATTTTACAGGTTCAGAACCATGGCCATTGCAACTTCCTGTGTAGAAATTTTGTGAAGCAAAAAGGAAATTAGTATTTCTTACCTATATCTGGGAGAGTTGAGCATGGAAAAGGAGGAAGGAATATAAAAATTAGTACATGGTTAATCTTTCCATTGTATGTGTCATCAGGAAAACAATGGTTGATACATTGAAAATTGAGGTTTAGAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAATAATTAGCTGGGCACGGTGGCAGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAACAAAAAACAAAAAACAAAAAAAGAAAATTGAGGTTTAGGACACTGGTAGGATTATGGTGTCAGTCACATCATGAGTTGAGTCAATAGCACACTACAAATATCGTGATCCATAGCCCTGGGTTTAAGTAACTTATAATTTAAGGACATTTAATCTGAATTGCATTAGATTCTAATTACTTTCTAGAACACCCTATGTGAATTTACCAAAACAGTAAATATATGGAGTATGTGAACTTCAGAAGATTTTATATCAATGAAGGCAGGACAGTAGGACAGAAGACATGGTGGGACACGCCCATGATCTTCAGTTTATTCGACTCACTTCATCCTGAAGTCCTCAGCAGCTAGTCTCGCATTGTCAATCTGCAAGAGGAGCTGGGCATTTCCAATGCTGGCTGAAATGATCTGGCAAAAGAGAGGGACACACACAAGATTGAAGCCCTAAAAGACTAGTATTATACAAATATATTTTTGACACAAAGGTGAAAATGGTGATATTAAATGCTGTTTTATTTAGAGTTTAAGACAGTTTCATTTTTCTAAGACAATATCTGTATAAAATAATATTGAGAAGTAAAGAAATGCAGATTTCCTACAGAAAGATAATGGAAATACAATCATTTCTTAGTAAATGATAAAGTGGAGTGAAACAACCTGGGATGAGAAAATTGCTGCAAGTACAGCTAAATTGGAAAATATCAAAGTTGTAGGTGATTATCACTGTAAAACATTGTAATGGTAAAAAGGAAAAAAAAAATTCCCAAAGCGCCTCCAAAAGAGATCTTACCTTATTCCTGAGGTCTTCAATCAGTGGATAATATTTGCTGTAATCGCTCTGTGAAGCATCTGCAGTCCCAGTTCCTCGTGTTTCATACCATTCTCGAATTTTATTTTCTAGCTCAGTATTAGCCTCTTCTAGAGCTCGCACCTTATCCAGGTAGGAAGCTAATCTATCATTAAGATTTTGCGTAGTTTCTTTTTCTGATCCAGAAAGAAGGCCTCCATCATTGCCCGAGAGAATACCTAGAGAGCCACCTCCTGGGCTGCCCCCAAATCCCATCCCCAGCCCTCCAAAGCTACCTCCACCCAGGGCTCTCCCATAACCAGCACCCAGTCCTCCTGCCATGGAACTTCCGGAGCCACCCCCAAAGCCGGAACTAGAACCAAACATGGAAGCAGCAGAAAAGCCTCCCCCACAGCTGGCTCCAAAGCCAAAGGCACTTCCCCCATAACCACTTCCAACACTGGAAGCAGACATGCCCCTGGGTCTGCCTATCACACTCTGCGAGGAGAGCCGCCGGGACAGTCCGGGGGTGCGCACTGAGAGTGACATGGTGTTGTTGGAGAGATCCATGGCCTGGGGAAGGTGGCCACAACTGGAGAGGAAGTTGTGCCAGCAAGCCAGAAAGCTAAACTTATATAGGCTGCAAGATGGGTGTCGCAGTTGAAAAGTTCACTTTCTCCACTCAAAATTGGATCCTCCCCCCAGGTTTTTGGCCAGCTCAACAAGTGAATGATTTATGTATAATGAAAATTCATTGATACAGAAATAATCGAATAATCATTTCCATTAAATATTTGTTATATGAAAAAGAAAGCTGGGTGGAGTAGAGTCTGCTTGTCATAAGGAATTTTTCTTCTCCAAATTAGTCTGTTGCCTGTATTCCCAGCACTGCCTAGCGTCTTGTTCACAGTAGGAAGATAATGAGCGATTGCTGAATGGATACGTTAAATACTTCTTCCTAAACCTTATGCTTTTTTAAGTTCTTCCCTGATCTTTTCTGTTTGTTTCCTTTGGAAAATCCAGTGTAAACCATTTGTTTCCTTTGGAAAAACCAATCCAATGTAAAATCCAGTCATGATCAAGTATACCTTTTAGTGGAATACAGCTTCAGAAGCAGCTGTGAAATGCACTGGTGAAAGGTGGAGAATAAATATATTTTCCAGATGGATACTAGAATTTGCATTTTCAAGGATTTTAAAACCTTGGCTTTAGGATGTTGCATGTTTCTTTTCCCTCTTATTCTTCAACTTGGAAAAGTACTATTTTTGAGTACAGTTGTTTATAGTAGAGTTTATTATAGTTGTTTTAGCAGTTTTACCTTGTCTGATTGCTCACTGCTCTACACTCAGCATTTACTATGTTTATTCCTTCAACAGATATTGCCTGTAATGGTTGCTCAATAAATGTGTTGACTAGTTGAATGGATTGTGTAAACACTTCAGATTTTGTTGCCATTATCAATAAGGAGAAAGTGGAAACACAGTTCAAATTAAGAAATGATTAAAACCCCAAGTTTAAGAGGCTAGTGAACCATTTCAGTTGACTGCTATGATGAAAAAGGATAAATTTTACAATATAGAATAAATTAAATGTTATATTTTAAACTTTGTTGTGAAAACTTTGCAAAGCGTGCTTCAAGGAATTATATCCAGTATCTTTAATTTTTAAGACATAAAGTTCTTATACTTTCTTGTTTGGTATATTATTTATCTTTGAAATTGATATGGCTTATATATTGAACATGAGAACTAACGTTCTTACAGGAAATGCATTAACTTGAAAGAAGCCTGCTTTCAGAGAGAGTTGTAGATACCTGGAAACCGAGTAGTACAATTCCAGGGTGGTGGAATTCCCTTAGGAATTTAAATTGTGAGCATTTTGATTGGATAAGAAGGAATAAGGATTTTTCTTTTACATGTTTTCTTTGAGATGATGGCCCAATTCTCTACATGTCTCATTGCAAAATAGTTCTATAGTTTTTTTTTAAATATAGCTCTCTATGTATTTATAGTAGGAAATTTAGAAGATGCAGAAAACATAAAGAAGATGTATGTATATATGAGTATTTTATATACATTTTTGAACATAATTGATTCAATATAAGATTTTATAATCTGCTTTTCTCTTAAGATTATATACTTATCTATCACTTGAACTTTAATAATTGGGTACAGAACATGGATTGTGGATTCTTCGAAATCCTTTGTTGGATTCAGATTTCTAAATTCAGTT
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Task1_train_24268
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The gene KRT13 (keratin 13) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; White sponge nevus 2
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CCTTGGCTCTGAGTGCTGGCAGAGTGTTCTGGAGAGTGTTTCCAGGTCCCACAGTGGAGGACTGTGTCCAGTTGCAGGGGAGGGCTCCTCCTTCTCACTGGAGGTTGTTGAGCCCAGGGCAGCCTGCAATTCCCGCTCACCTCTTCATGGTTCTTCTTCATGTAGGCTAGCTCTTCATTCAGGCTCTCGATCTGCATCTCCAGGTCAGTCTTAGACAGAGTGAGCTCATCCAGCACCCGGCGCAGGCCGTTGATGTCGGCCTCCACGCTCTGGCGCAGGGCCAGCTCATTCTCATACCTAAAATAGTAAAAAAATGAAATGTTTTTTGAAAAAGCAAGACATAAATGATATGAGACATTCTCCCTACCCCTGCACGAGACTCCAGTACTTCCAGACCTTCACTCCTGGGATGCTCCAGTGTCATTGGTCAGATGAGCTTTTGTCTAAACTAAGAGACTCCTGGGAAAGGAGAGGGAGGGGGAAAAAAAAAACTCACTTGAGCCTGAAGTCGTCCGCAGCCAGCCTGGCATTGTCAATCTCCAGGATGACCCGGTTGTTTTCAATGGTGGCGGTCAGGATCTACAAAATGCAGAAGAAGGTAACCTCTAGGGCATGGGTGTCCAGTCTGTTGGCTTCCCTGGGCCACATTGGAAGAAGAATTGTCTTGGGCAACACATCAAATACGCTAACACTAACGATAGCTGATGGGCTAAAAAGAAATTGGCAAAAATAAAAAATAAAAAAAAACTCAATGTTTTAAGAAAGCTTACAAATTTGTGTTAGGCCTCAATCAAAGCTGTCCTGGGCCACATGCAGCCCACCGGCCACAGGTTAGACAAGCTTGCTCTGGGGGGTCCACGTGCTTGAGGAGGTGGCCTGGGAAAACATGGGCAGGACCTGGTTCCCATGGGGCTCTACCTCTAAACTGTCCTGTGAGCTGGGACAAGGCATTTCCCTCTGGGCCTCCATTGCTCTTCTGTAAAGTGAGGAGTGGGGCTGCATCCCCTCCAATCGTTTCTAACACTTTAATATTCCATGTCTGAGCACCCTGGGGGAGATGCAGGGAGTGCATTTCTGAGGAACGACCTGCTGAGAACATCTTTGGTTCGTCATGTCTTGGCAGCCTCAGACTAGCACCCTCCCTAGGCCACTGTCTTGAGATCCATCCCCTGAAAGTCAGGAGGGACTCGGCTTGGTGCCACATATCTCACAATCACTTTGCTAGAGCTGACTTCCCAGCTGAGTGGAGGGGAAATCCAACAAATATTCCCATCCCTTTGAATTTCTTGTCTAAACGTTTATATTCCAAAGCAGTGAAAGCCTGCTCCACATGGCTGAGACTCAGCCCAGGCTGGTAGATTTCTGCTCCAACAGGCTGGTATCACAGCACAACAGACAGGGCTCAACAAAGGGCACCCAGGCTCGGCACTGCCTAAGCCTCTGCCTCTCTCTCCCCCAACTTGGCCATCGCCAGTTGAGAATACCAGTTTGAATGGGTCCCCTACAAAGTAAACAATTATTCCCAGGGCAATGAATGAACACGTCTCTCTTTCTCTGTTGATTTCATGCATTCTTAATGGCTTTTAAACCTGTCATGTTTCCAGATAACTCAGTAGGTTAGGATTATAGAGATCGAGTCATGAATAACATAACTGTCTGGAAAGCAGTAAAAAAACTGACCTGAGTAATAACAATCATAAAAATGAATAATGAGAGAAAATGCATTTGGGGAGTTGTGGCATGAGAAAGCCCATCAGAGGTAGAGACTCTTGGTAGTCAAACAGTAGGCTTTTCCCCTGCAAGAAGTTTGTGAATTCCGTCCACACCTAGTCCCCCACAACACTGTGTTTCTTGGCCTTGGAGGCTCTGCCCTTCATGGAGGACCCCTCCTCAGCTTCCAAGGGCTCACCTTGTCCCGGAGCTCTTCAATGGTCTTGTAGTAGGGGCTGTAGTCCCGCTCAGGGCTAGCTGGGCTCTGCTTCAGGTGCCAGTCACGGATCTTCACCTCCAGGTCAGCGTTGGCCTCCTCCAGGGCGCGCACCTTCTCCAGGTAGGAAGCCAGGCGGTCGTTGAGGTTCTGCATGGTGATCTTCTCATTGCCAGTGAGGAGGCCGCCATCACAAGCACCAAAGTCAACAAAGCCACCAGCAAAACCCCCACCAAAGCCACCTCCAAGGCCACCTCCATAGCCACCTCCAAGGCCACCTCCATAGCCACCTCCAAAGCCACTACCAGCCCCTCCACCAAAACCACAGCTCACGCCGCCTCCATAGCCCCCAGCTGATCCCCCGGACACAAACCGAGTTGAACAGGTAGAGACACCACGGCCTCCTCCCAGCTGGCAAGAGCCACCCCCGAAACCACCTCCATAGCTGGCAGAGGAGCTCTGCAGGCGGAGGCTCATGGTGAGAGCAGGATTGAGAGCAGGTGCAGATAGAAGCTTGCTTGGCCTGGGCCGAGGACTGTGGCTCTTCCCCAGAGTGGACACCTTTTATACACCTCCATAGGGGCTGGTTATCTTCTCTCCTCCCTTCCCCACCCTCTGACTTGGTGCCAACTACACTTCTGTTTCCCACAAGCTTAGTTATCTCTGATCTCTCCAGGGTGGGTTGTGCCTTTTGGGGGTGGCTTTTTTTTTAATCCTTAACAAAAAGAATGATTCAGAGGGGACAGCATTCTGCCTGAGACTGCCCTTTTGACAAGTGAATTCTGTTTCACCTCCACTTAAGGAGTTCACTGTGCAGGCTCTGAGCCCCACCCAGTATTAGAACGGGACCTGAGATGCGGAGGCCTGCCAGGAGCTTCTGCGAGGAAAGTGGTGGGTGCAGAGTGGCTCTGTGCTTTGCAAGGTCACCGTAGCCCTCGACCTTCCTTTTTTCTATACCTAAAACTTCTGACTGGGATGTCCTGGATCCTTCTTAGCACTTCATCTACTCCAGGGGCCCCAGCAACTCTGATGACAAACTTTGCTTGGTTCGATAGAATCACCTGCCTTGAAAGTATTTAGACTGAGAAAGAAATAGCTCCGAGGCCATCAGAAAAAGTCACAGTGACAGAGACCTTAAGGGATCTTAGGGACCATCAGACACAGCTGTGGAAACTCAGGCATGGAAAGAGGAAGTGGCCCTGTCCATTATCATAGCGAATATTCTCCGAGCCCTCACCATAGGCAGGAACTGGGTGAAGTTACTTTACACTCATCATCTCATTTAACCTTCACAGCAGCCACAGGAGGAGGGTCCTACTATTGCCCCCATTTACACATGAGGAAAATGAACCTTAAGGGCAGAATCAGGACTGAAATCCAAGTCTGGTTCTGTCTGACGCTAAGGTGCATTTTTTAGGTACATTTTTCATACAGTAAAATGTATAGATCACGTGTCCAGCTTGATGTCACGCATGGGTATGCACGACCTGTGTAAACACCACCCAGGACATTCCCAGCATTCCATAAAGGTCCTTGTACCTTTTCCCAGTCAATTACCTGACTCCACACCCCTGGTGTAACCACTCTTCCAACTTCTGTCCCCATAGACAAGTTCAGAGGTCCTCAGCTAGAGGCTGCTTTGCTCTCCAGGGGACGTTTGACAATGTCTAGGAACATTTTGGTTGTCACAACTTGGGGGCACTACTGATAGCTAAACACCAGGTATGCTGCTAAACATCCTATAAGGTGCAGGACTGTCCCCACAGCAAAGAATTATCAGACCCAAAATATCAATAGTGTTGAGGTTGAGATGCCTGGGTCAGTCTGGCCCTCGGGTTGAATCACTCCATTACGCTGACTGCTTTAGGGCACAGTCACATCCAGGAAGACGGCCCTGTAATAATGTGAGCAGGGTCCTTTCTAGTACGCCAGTCATATGAGGTCTGTCCCAGCCAAGAGGCCACATAAGAGGATGTGACACAGGACCCAGGGCCAGGGTCTCAGCTTAGGATCCTGAGATGTGGCTGAGAAACTCAGGGACTATGTAAGAACCCTGCCAGAGGGAGCTTCCCCATTCAGGCTGGGAGAAAAGGACCTCAGATGGCATCTGTGAGGCCAGGATAGAAGGTCCTCCATTCCAGGGCTGACAATGGAGGACCCTGAATGCAG
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CCTTGGCTCTGAGTGCTGGCAGAGTGTTCTGGAGAGTGTTTCCAGGTCCCACAGTGGAGGACTGTGTCCAGTTGCAGGGGAGGGCTCCTCCTTCTCACTGGAGGTTGTTGAGCCCAGGGCAGCCTGCAATTCCCGCTCACCTCTTCATGGTTCTTCTTCATGTAGGCTAGCTCTTCATTCAGGCTCTCGATCTGCATCTCCAGGTCAGTCTTAGACAGAGTGAGCTCATCCAGCACCCGGCGCAGGCCGTTGATGTCGGCCTCCACGCTCTGGCGCAGGGCCAGCTCATTCTCATACCTAAAATAGTAAAAAAATGAAATGTTTTTTGAAAAAGCAAGACATAAATGATATGAGACATTCTCCCTACCCCTGCACGAGACTCCAGTACTTCCAGACCTTCACTCCTGGGATGCTCCAGTGTCATTGGTCAGATGAGCTTTTGTCTAAACTAAGAGACTCCTGGGAAAGGAGAGGGAGGGGGAAAAAAAAAACTCACTTGAGCCTGAAGTCGTCCGCAGCCAGCCTGGCATTGTCAATCTCCAGGATGACCCGGTTGTTTTCAATGGTGGCGGTCAGGATCTACAAAATGCAGAAGAAGGTAACCTCTAGGGCATGGGTGTCCAGTCTGTTGGCTTCCCTGGGCCACATTGGAAGAAGAATTGTCTTGGGCAACACATCAAATACGCTAACACTAACGATAGCTGATGGGCTAAAAAGAAATTGGCAAAAATAAAAAATAAAAAAAAACTCAATGTTTTAAGAAAGCTTACAAATTTGTGTTAGGCCTCAATCAAAGCTGTCCTGGGCCACATGCAGCCCACCGGCCACAGGTTAGACAAGCTTGCTCTGGGGGGTCCACGTGCTTGAGGAGGTGGCCTGGGAAAACATGGGCAGGACCTGGTTCCCATGGGGCTCTACCTCTAAACTGTCCTGTGAGCTGGGACAAGGCATTTCCCTCTGGGCCTCCATTGCTCTTCTGTAAAGTGAGGAGTGGGGCTGCATCCCCTCCAATCGTTTCTAACACTTTAATATTCCATGTCTGAGCACCCTGGGGGAGATGCAGGGAGTGCATTTCTGAGGAACGACCTGCTGAGAACATCTTTGGTTCGTCATGTCTTGGCAGCCTCAGACTAGCACCCTCCCTAGGCCACTGTCTTGAGATCCATCCCCTGAAAGTCAGGAGGGACTCGGCTTGGTGCCACATATCTCACAATCACTTTGCTAGAGCTGACTTCCCAGCTGAGTGGAGGGGAAATCCAACAAATATTCCCATCCCTTTGAATTTCTTGTCTAAACGTTTATATTCCAAAGCAGTGAAAGCCTGCTCCACATGGCTGAGACTCAGCCCAGGCTGGTAGATTTCTGCTCCAACAGGCTGGTATCACAGCACAACAGACAGGGCTCAACAAAGGGCACCCAGGCTCGGCACTGCCTAAGCCTCTGCCTCTCTCTCCCCCAACTTGGCCATCGCCAGTTGAGAATACCAGTTTGAATGGGTCCCCTACAAAGTAAACAATTATTCCCAGGGCAATGAATGAACACGTCTCTCTTTCTCTGTTGATTTCATGCATTCTTAATGGCTTTTAAACCTGTCATGTTTCCAGATAACTCAGTAGGTTAGGATTATAGAGATCGAGTCATGAATAACATAACTGTCTGGAAAGCAGTAAAAAAACTGACCTGAGTAATAACAATCATAAAAATGAATAATGAGAGAAAATGCATTTGGGGAGTTGTGGCATGAGAAAGCCCATCAGAGGTAGAGACTCTTGGTAGTCAAACAGTAGGCTTTTCCCCTGCAAGAAGTTTGTGAATTCCGTCCACACCTAGTCCCCCACAACACTGTGTTTCTTGGCCTTGGAGGCTCTGCCCTTCATGGAGGACCCCTCCTCAGCTTCCAAGGGCTCACCTTGTCCCGGAGCTCTTCAATGGTCTTGTAGTAGGGGCTGTAGTCCCGCTCAGGGCTAGCTGGGCTCTGCTTCAGGTGCCAGTCACGGATCTTCACCTCCAGGTCAGCGTTGGCCTCCTCCAGGGCGCGCACCTTCTCCGGGTAGGAAGCCAGGCGGTCGTTGAGGTTCTGCATGGTGATCTTCTCATTGCCAGTGAGGAGGCCGCCATCACAAGCACCAAAGTCAACAAAGCCACCAGCAAAACCCCCACCAAAGCCACCTCCAAGGCCACCTCCATAGCCACCTCCAAGGCCACCTCCATAGCCACCTCCAAAGCCACTACCAGCCCCTCCACCAAAACCACAGCTCACGCCGCCTCCATAGCCCCCAGCTGATCCCCCGGACACAAACCGAGTTGAACAGGTAGAGACACCACGGCCTCCTCCCAGCTGGCAAGAGCCACCCCCGAAACCACCTCCATAGCTGGCAGAGGAGCTCTGCAGGCGGAGGCTCATGGTGAGAGCAGGATTGAGAGCAGGTGCAGATAGAAGCTTGCTTGGCCTGGGCCGAGGACTGTGGCTCTTCCCCAGAGTGGACACCTTTTATACACCTCCATAGGGGCTGGTTATCTTCTCTCCTCCCTTCCCCACCCTCTGACTTGGTGCCAACTACACTTCTGTTTCCCACAAGCTTAGTTATCTCTGATCTCTCCAGGGTGGGTTGTGCCTTTTGGGGGTGGCTTTTTTTTTAATCCTTAACAAAAAGAATGATTCAGAGGGGACAGCATTCTGCCTGAGACTGCCCTTTTGACAAGTGAATTCTGTTTCACCTCCACTTAAGGAGTTCACTGTGCAGGCTCTGAGCCCCACCCAGTATTAGAACGGGACCTGAGATGCGGAGGCCTGCCAGGAGCTTCTGCGAGGAAAGTGGTGGGTGCAGAGTGGCTCTGTGCTTTGCAAGGTCACCGTAGCCCTCGACCTTCCTTTTTTCTATACCTAAAACTTCTGACTGGGATGTCCTGGATCCTTCTTAGCACTTCATCTACTCCAGGGGCCCCAGCAACTCTGATGACAAACTTTGCTTGGTTCGATAGAATCACCTGCCTTGAAAGTATTTAGACTGAGAAAGAAATAGCTCCGAGGCCATCAGAAAAAGTCACAGTGACAGAGACCTTAAGGGATCTTAGGGACCATCAGACACAGCTGTGGAAACTCAGGCATGGAAAGAGGAAGTGGCCCTGTCCATTATCATAGCGAATATTCTCCGAGCCCTCACCATAGGCAGGAACTGGGTGAAGTTACTTTACACTCATCATCTCATTTAACCTTCACAGCAGCCACAGGAGGAGGGTCCTACTATTGCCCCCATTTACACATGAGGAAAATGAACCTTAAGGGCAGAATCAGGACTGAAATCCAAGTCTGGTTCTGTCTGACGCTAAGGTGCATTTTTTAGGTACATTTTTCATACAGTAAAATGTATAGATCACGTGTCCAGCTTGATGTCACGCATGGGTATGCACGACCTGTGTAAACACCACCCAGGACATTCCCAGCATTCCATAAAGGTCCTTGTACCTTTTCCCAGTCAATTACCTGACTCCACACCCCTGGTGTAACCACTCTTCCAACTTCTGTCCCCATAGACAAGTTCAGAGGTCCTCAGCTAGAGGCTGCTTTGCTCTCCAGGGGACGTTTGACAATGTCTAGGAACATTTTGGTTGTCACAACTTGGGGGCACTACTGATAGCTAAACACCAGGTATGCTGCTAAACATCCTATAAGGTGCAGGACTGTCCCCACAGCAAAGAATTATCAGACCCAAAATATCAATAGTGTTGAGGTTGAGATGCCTGGGTCAGTCTGGCCCTCGGGTTGAATCACTCCATTACGCTGACTGCTTTAGGGCACAGTCACATCCAGGAAGACGGCCCTGTAATAATGTGAGCAGGGTCCTTTCTAGTACGCCAGTCATATGAGGTCTGTCCCAGCCAAGAGGCCACATAAGAGGATGTGACACAGGACCCAGGGCCAGGGTCTCAGCTTAGGATCCTGAGATGTGGCTGAGAAACTCAGGGACTATGTAAGAACCCTGCCAGAGGGAGCTTCCCCATTCAGGCTGGGAGAAAAGGACCTCAGATGGCATCTGTGAGGCCAGGATAGAAGGTCCTCCATTCCAGGGCTGACAATGGAGGACCCTGAATGCAG
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Task1_train_24269
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Gene KRT13 (keratin 13), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; White sponge nevus 2
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TGTTCTGGAGAGTGTTTCCAGGTCCCACAGTGGAGGACTGTGTCCAGTTGCAGGGGAGGGCTCCTCCTTCTCACTGGAGGTTGTTGAGCCCAGGGCAGCCTGCAATTCCCGCTCACCTCTTCATGGTTCTTCTTCATGTAGGCTAGCTCTTCATTCAGGCTCTCGATCTGCATCTCCAGGTCAGTCTTAGACAGAGTGAGCTCATCCAGCACCCGGCGCAGGCCGTTGATGTCGGCCTCCACGCTCTGGCGCAGGGCCAGCTCATTCTCATACCTAAAATAGTAAAAAAATGAAATGTTTTTTGAAAAAGCAAGACATAAATGATATGAGACATTCTCCCTACCCCTGCACGAGACTCCAGTACTTCCAGACCTTCACTCCTGGGATGCTCCAGTGTCATTGGTCAGATGAGCTTTTGTCTAAACTAAGAGACTCCTGGGAAAGGAGAGGGAGGGGGAAAAAAAAAACTCACTTGAGCCTGAAGTCGTCCGCAGCCAGCCTGGCATTGTCAATCTCCAGGATGACCCGGTTGTTTTCAATGGTGGCGGTCAGGATCTACAAAATGCAGAAGAAGGTAACCTCTAGGGCATGGGTGTCCAGTCTGTTGGCTTCCCTGGGCCACATTGGAAGAAGAATTGTCTTGGGCAACACATCAAATACGCTAACACTAACGATAGCTGATGGGCTAAAAAGAAATTGGCAAAAATAAAAAATAAAAAAAAACTCAATGTTTTAAGAAAGCTTACAAATTTGTGTTAGGCCTCAATCAAAGCTGTCCTGGGCCACATGCAGCCCACCGGCCACAGGTTAGACAAGCTTGCTCTGGGGGGTCCACGTGCTTGAGGAGGTGGCCTGGGAAAACATGGGCAGGACCTGGTTCCCATGGGGCTCTACCTCTAAACTGTCCTGTGAGCTGGGACAAGGCATTTCCCTCTGGGCCTCCATTGCTCTTCTGTAAAGTGAGGAGTGGGGCTGCATCCCCTCCAATCGTTTCTAACACTTTAATATTCCATGTCTGAGCACCCTGGGGGAGATGCAGGGAGTGCATTTCTGAGGAACGACCTGCTGAGAACATCTTTGGTTCGTCATGTCTTGGCAGCCTCAGACTAGCACCCTCCCTAGGCCACTGTCTTGAGATCCATCCCCTGAAAGTCAGGAGGGACTCGGCTTGGTGCCACATATCTCACAATCACTTTGCTAGAGCTGACTTCCCAGCTGAGTGGAGGGGAAATCCAACAAATATTCCCATCCCTTTGAATTTCTTGTCTAAACGTTTATATTCCAAAGCAGTGAAAGCCTGCTCCACATGGCTGAGACTCAGCCCAGGCTGGTAGATTTCTGCTCCAACAGGCTGGTATCACAGCACAACAGACAGGGCTCAACAAAGGGCACCCAGGCTCGGCACTGCCTAAGCCTCTGCCTCTCTCTCCCCCAACTTGGCCATCGCCAGTTGAGAATACCAGTTTGAATGGGTCCCCTACAAAGTAAACAATTATTCCCAGGGCAATGAATGAACACGTCTCTCTTTCTCTGTTGATTTCATGCATTCTTAATGGCTTTTAAACCTGTCATGTTTCCAGATAACTCAGTAGGTTAGGATTATAGAGATCGAGTCATGAATAACATAACTGTCTGGAAAGCAGTAAAAAAACTGACCTGAGTAATAACAATCATAAAAATGAATAATGAGAGAAAATGCATTTGGGGAGTTGTGGCATGAGAAAGCCCATCAGAGGTAGAGACTCTTGGTAGTCAAACAGTAGGCTTTTCCCCTGCAAGAAGTTTGTGAATTCCGTCCACACCTAGTCCCCCACAACACTGTGTTTCTTGGCCTTGGAGGCTCTGCCCTTCATGGAGGACCCCTCCTCAGCTTCCAAGGGCTCACCTTGTCCCGGAGCTCTTCAATGGTCTTGTAGTAGGGGCTGTAGTCCCGCTCAGGGCTAGCTGGGCTCTGCTTCAGGTGCCAGTCACGGATCTTCACCTCCAGGTCAGCGTTGGCCTCCTCCAGGGCGCGCACCTTCTCCAGGTAGGAAGCCAGGCGGTCGTTGAGGTTCTGCATGGTGATCTTCTCATTGCCAGTGAGGAGGCCGCCATCACAAGCACCAAAGTCAACAAAGCCACCAGCAAAACCCCCACCAAAGCCACCTCCAAGGCCACCTCCATAGCCACCTCCAAGGCCACCTCCATAGCCACCTCCAAAGCCACTACCAGCCCCTCCACCAAAACCACAGCTCACGCCGCCTCCATAGCCCCCAGCTGATCCCCCGGACACAAACCGAGTTGAACAGGTAGAGACACCACGGCCTCCTCCCAGCTGGCAAGAGCCACCCCCGAAACCACCTCCATAGCTGGCAGAGGAGCTCTGCAGGCGGAGGCTCATGGTGAGAGCAGGATTGAGAGCAGGTGCAGATAGAAGCTTGCTTGGCCTGGGCCGAGGACTGTGGCTCTTCCCCAGAGTGGACACCTTTTATACACCTCCATAGGGGCTGGTTATCTTCTCTCCTCCCTTCCCCACCCTCTGACTTGGTGCCAACTACACTTCTGTTTCCCACAAGCTTAGTTATCTCTGATCTCTCCAGGGTGGGTTGTGCCTTTTGGGGGTGGCTTTTTTTTTAATCCTTAACAAAAAGAATGATTCAGAGGGGACAGCATTCTGCCTGAGACTGCCCTTTTGACAAGTGAATTCTGTTTCACCTCCACTTAAGGAGTTCACTGTGCAGGCTCTGAGCCCCACCCAGTATTAGAACGGGACCTGAGATGCGGAGGCCTGCCAGGAGCTTCTGCGAGGAAAGTGGTGGGTGCAGAGTGGCTCTGTGCTTTGCAAGGTCACCGTAGCCCTCGACCTTCCTTTTTTCTATACCTAAAACTTCTGACTGGGATGTCCTGGATCCTTCTTAGCACTTCATCTACTCCAGGGGCCCCAGCAACTCTGATGACAAACTTTGCTTGGTTCGATAGAATCACCTGCCTTGAAAGTATTTAGACTGAGAAAGAAATAGCTCCGAGGCCATCAGAAAAAGTCACAGTGACAGAGACCTTAAGGGATCTTAGGGACCATCAGACACAGCTGTGGAAACTCAGGCATGGAAAGAGGAAGTGGCCCTGTCCATTATCATAGCGAATATTCTCCGAGCCCTCACCATAGGCAGGAACTGGGTGAAGTTACTTTACACTCATCATCTCATTTAACCTTCACAGCAGCCACAGGAGGAGGGTCCTACTATTGCCCCCATTTACACATGAGGAAAATGAACCTTAAGGGCAGAATCAGGACTGAAATCCAAGTCTGGTTCTGTCTGACGCTAAGGTGCATTTTTTAGGTACATTTTTCATACAGTAAAATGTATAGATCACGTGTCCAGCTTGATGTCACGCATGGGTATGCACGACCTGTGTAAACACCACCCAGGACATTCCCAGCATTCCATAAAGGTCCTTGTACCTTTTCCCAGTCAATTACCTGACTCCACACCCCTGGTGTAACCACTCTTCCAACTTCTGTCCCCATAGACAAGTTCAGAGGTCCTCAGCTAGAGGCTGCTTTGCTCTCCAGGGGACGTTTGACAATGTCTAGGAACATTTTGGTTGTCACAACTTGGGGGCACTACTGATAGCTAAACACCAGGTATGCTGCTAAACATCCTATAAGGTGCAGGACTGTCCCCACAGCAAAGAATTATCAGACCCAAAATATCAATAGTGTTGAGGTTGAGATGCCTGGGTCAGTCTGGCCCTCGGGTTGAATCACTCCATTACGCTGACTGCTTTAGGGCACAGTCACATCCAGGAAGACGGCCCTGTAATAATGTGAGCAGGGTCCTTTCTAGTACGCCAGTCATATGAGGTCTGTCCCAGCCAAGAGGCCACATAAGAGGATGTGACACAGGACCCAGGGCCAGGGTCTCAGCTTAGGATCCTGAGATGTGGCTGAGAAACTCAGGGACTATGTAAGAACCCTGCCAGAGGGAGCTTCCCCATTCAGGCTGGGAGAAAAGGACCTCAGATGGCATCTGTGAGGCCAGGATAGAAGGTCCTCCATTCCAGGGCTGACAATGGAGGACCCTGAATGCAGACTCCCAGGCCCCACTCACCAAGG
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TGTTCTGGAGAGTGTTTCCAGGTCCCACAGTGGAGGACTGTGTCCAGTTGCAGGGGAGGGCTCCTCCTTCTCACTGGAGGTTGTTGAGCCCAGGGCAGCCTGCAATTCCCGCTCACCTCTTCATGGTTCTTCTTCATGTAGGCTAGCTCTTCATTCAGGCTCTCGATCTGCATCTCCAGGTCAGTCTTAGACAGAGTGAGCTCATCCAGCACCCGGCGCAGGCCGTTGATGTCGGCCTCCACGCTCTGGCGCAGGGCCAGCTCATTCTCATACCTAAAATAGTAAAAAAATGAAATGTTTTTTGAAAAAGCAAGACATAAATGATATGAGACATTCTCCCTACCCCTGCACGAGACTCCAGTACTTCCAGACCTTCACTCCTGGGATGCTCCAGTGTCATTGGTCAGATGAGCTTTTGTCTAAACTAAGAGACTCCTGGGAAAGGAGAGGGAGGGGGAAAAAAAAAACTCACTTGAGCCTGAAGTCGTCCGCAGCCAGCCTGGCATTGTCAATCTCCAGGATGACCCGGTTGTTTTCAATGGTGGCGGTCAGGATCTACAAAATGCAGAAGAAGGTAACCTCTAGGGCATGGGTGTCCAGTCTGTTGGCTTCCCTGGGCCACATTGGAAGAAGAATTGTCTTGGGCAACACATCAAATACGCTAACACTAACGATAGCTGATGGGCTAAAAAGAAATTGGCAAAAATAAAAAATAAAAAAAAACTCAATGTTTTAAGAAAGCTTACAAATTTGTGTTAGGCCTCAATCAAAGCTGTCCTGGGCCACATGCAGCCCACCGGCCACAGGTTAGACAAGCTTGCTCTGGGGGGTCCACGTGCTTGAGGAGGTGGCCTGGGAAAACATGGGCAGGACCTGGTTCCCATGGGGCTCTACCTCTAAACTGTCCTGTGAGCTGGGACAAGGCATTTCCCTCTGGGCCTCCATTGCTCTTCTGTAAAGTGAGGAGTGGGGCTGCATCCCCTCCAATCGTTTCTAACACTTTAATATTCCATGTCTGAGCACCCTGGGGGAGATGCAGGGAGTGCATTTCTGAGGAACGACCTGCTGAGAACATCTTTGGTTCGTCATGTCTTGGCAGCCTCAGACTAGCACCCTCCCTAGGCCACTGTCTTGAGATCCATCCCCTGAAAGTCAGGAGGGACTCGGCTTGGTGCCACATATCTCACAATCACTTTGCTAGAGCTGACTTCCCAGCTGAGTGGAGGGGAAATCCAACAAATATTCCCATCCCTTTGAATTTCTTGTCTAAACGTTTATATTCCAAAGCAGTGAAAGCCTGCTCCACATGGCTGAGACTCAGCCCAGGCTGGTAGATTTCTGCTCCAACAGGCTGGTATCACAGCACAACAGACAGGGCTCAACAAAGGGCACCCAGGCTCGGCACTGCCTAAGCCTCTGCCTCTCTCTCCCCCAACTTGGCCATCGCCAGTTGAGAATACCAGTTTGAATGGGTCCCCTACAAAGTAAACAATTATTCCCAGGGCAATGAATGAACACGTCTCTCTTTCTCTGTTGATTTCATGCATTCTTAATGGCTTTTAAACCTGTCATGTTTCCAGATAACTCAGTAGGTTAGGATTATAGAGATCGAGTCATGAATAACATAACTGTCTGGAAAGCAGTAAAAAAACTGACCTGAGTAATAACAATCATAAAAATGAATAATGAGAGAAAATGCATTTGGGGAGTTGTGGCATGAGAAAGCCCATCAGAGGTAGAGACTCTTGGTAGTCAAACAGTAGGCTTTTCCCCTGCAAGAAGTTTGTGAATTCCGTCCACACCTAGTCCCCCACAACACTGTGTTTCTTGGCCTTGGAGGCTCTGCCCTTCATGGAGGACCCCTCCTCAGCTTCCAAGGGCTCACCTTGTCCCGGAGCTCTTCAATGGTCTTGTAGTAGGGGCTGTAGTCCCGCTCAGGGCTAGCTGGGCTCTGCTTCAGGTGCCAGTCACGGATCTTCACCTCCAGGTCAGCGTTGGCCTCCTCCAGGGCGCGCACCTTCTCCAGGTAGGAAGCCAGGCGGTCGTTGGGGTTCTGCATGGTGATCTTCTCATTGCCAGTGAGGAGGCCGCCATCACAAGCACCAAAGTCAACAAAGCCACCAGCAAAACCCCCACCAAAGCCACCTCCAAGGCCACCTCCATAGCCACCTCCAAGGCCACCTCCATAGCCACCTCCAAAGCCACTACCAGCCCCTCCACCAAAACCACAGCTCACGCCGCCTCCATAGCCCCCAGCTGATCCCCCGGACACAAACCGAGTTGAACAGGTAGAGACACCACGGCCTCCTCCCAGCTGGCAAGAGCCACCCCCGAAACCACCTCCATAGCTGGCAGAGGAGCTCTGCAGGCGGAGGCTCATGGTGAGAGCAGGATTGAGAGCAGGTGCAGATAGAAGCTTGCTTGGCCTGGGCCGAGGACTGTGGCTCTTCCCCAGAGTGGACACCTTTTATACACCTCCATAGGGGCTGGTTATCTTCTCTCCTCCCTTCCCCACCCTCTGACTTGGTGCCAACTACACTTCTGTTTCCCACAAGCTTAGTTATCTCTGATCTCTCCAGGGTGGGTTGTGCCTTTTGGGGGTGGCTTTTTTTTTAATCCTTAACAAAAAGAATGATTCAGAGGGGACAGCATTCTGCCTGAGACTGCCCTTTTGACAAGTGAATTCTGTTTCACCTCCACTTAAGGAGTTCACTGTGCAGGCTCTGAGCCCCACCCAGTATTAGAACGGGACCTGAGATGCGGAGGCCTGCCAGGAGCTTCTGCGAGGAAAGTGGTGGGTGCAGAGTGGCTCTGTGCTTTGCAAGGTCACCGTAGCCCTCGACCTTCCTTTTTTCTATACCTAAAACTTCTGACTGGGATGTCCTGGATCCTTCTTAGCACTTCATCTACTCCAGGGGCCCCAGCAACTCTGATGACAAACTTTGCTTGGTTCGATAGAATCACCTGCCTTGAAAGTATTTAGACTGAGAAAGAAATAGCTCCGAGGCCATCAGAAAAAGTCACAGTGACAGAGACCTTAAGGGATCTTAGGGACCATCAGACACAGCTGTGGAAACTCAGGCATGGAAAGAGGAAGTGGCCCTGTCCATTATCATAGCGAATATTCTCCGAGCCCTCACCATAGGCAGGAACTGGGTGAAGTTACTTTACACTCATCATCTCATTTAACCTTCACAGCAGCCACAGGAGGAGGGTCCTACTATTGCCCCCATTTACACATGAGGAAAATGAACCTTAAGGGCAGAATCAGGACTGAAATCCAAGTCTGGTTCTGTCTGACGCTAAGGTGCATTTTTTAGGTACATTTTTCATACAGTAAAATGTATAGATCACGTGTCCAGCTTGATGTCACGCATGGGTATGCACGACCTGTGTAAACACCACCCAGGACATTCCCAGCATTCCATAAAGGTCCTTGTACCTTTTCCCAGTCAATTACCTGACTCCACACCCCTGGTGTAACCACTCTTCCAACTTCTGTCCCCATAGACAAGTTCAGAGGTCCTCAGCTAGAGGCTGCTTTGCTCTCCAGGGGACGTTTGACAATGTCTAGGAACATTTTGGTTGTCACAACTTGGGGGCACTACTGATAGCTAAACACCAGGTATGCTGCTAAACATCCTATAAGGTGCAGGACTGTCCCCACAGCAAAGAATTATCAGACCCAAAATATCAATAGTGTTGAGGTTGAGATGCCTGGGTCAGTCTGGCCCTCGGGTTGAATCACTCCATTACGCTGACTGCTTTAGGGCACAGTCACATCCAGGAAGACGGCCCTGTAATAATGTGAGCAGGGTCCTTTCTAGTACGCCAGTCATATGAGGTCTGTCCCAGCCAAGAGGCCACATAAGAGGATGTGACACAGGACCCAGGGCCAGGGTCTCAGCTTAGGATCCTGAGATGTGGCTGAGAAACTCAGGGACTATGTAAGAACCCTGCCAGAGGGAGCTTCCCCATTCAGGCTGGGAGAAAAGGACCTCAGATGGCATCTGTGAGGCCAGGATAGAAGGTCCTCCATTCCAGGGCTGACAATGGAGGACCCTGAATGCAGACTCCCAGGCCCCACTCACCAAGG
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Task1_train_24270
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A mutation in KRT9 (keratin 9), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; not provided
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GAAGCCTGTGGAGAGATGGAAGGGAGATGAGGGGGAGAAGGGAGGACTGTAAGCAGGAGCAGAGAGGTTGGGACTTGGGGGAAGATGGGGAAACTCGAAGCAAGGACACTAGAGCTCAAAGAGCTGGACAATCCTGAGGTAGAAGGACCCTGGGGTCTCCCAATCTACTGGTCCCCATCTAATTCCTGAATCTCTGTTGCAGCAAACCTGACAGATGCACCCCCAAGTCTGAGGATGGGGGGCTTATGAGGCAGCCCCCTCCATTCAACAGATTTGTTAGTCAATTTTTTGTATATTGAGGCAAAAGATGGCCCCAGCCTCACTCCTAGATGTATATCCATGGACCTGCAGTGCCACTGGACTCACAAAACCACATTAGACACCCTGCAGGGCAGCTCCCAAGCACCTCAAGTCTTCTCTGAGCTAAACATTCCCAGTTATATTACCCAGGCTTTTCCTATAATTTCATATTACATTTTTATTTTATAAAATTCAATGTGTACATGGGAAAATGTTCCCTGATCTAGAGACCAACTCACCTGTGTGAGCCTTTCTTACATTTAGATTATGTTCATCCTTTTGGCAGTTGCATCATGTAATACTTGTGCAAGCCAACCACTGACTAAAATCCCTGAGTCTCTTTTCCACCTGAACTGTTGCTGATCCAGGTCCCCCATCCTCATGAAGGTTGAAAGTACTGGCTGTGAAGCCCCACAGAGCTGAACCCTTCATTTGTGATTGTATGACTTTGAGCAAATTATTTTCTCTGAACCTCATTTTCCTTAAAATGGGGATTATAATAAAACCTACCTCATAGCGTGTGTCATGATAATGCACAATTTTCAACCCATCTCCTACACTACTGAGACTCAGCCATGTGTAGATTTGGTCCTAGCCTCATCCTAGGCTCTGTCAAAAATAATGATCAATTCAGAACCAAGGGTAGGTCTCTGACACCTCACTAGAGATTTCCCTAACATCTAGCTCTATTCAGAATCTGTGTTCCCCAGAGATTCAAAAATACTCAAAAAAAAAAAAAGGTGAGACCTTGACTCTCCACCCCACAACCTAGGATTGTCCCTTACCTTTTGTCTCATCTTGGTCACCAGATTTTGAGGAAGAAGACTAGGAATGGGATGATTTTCCGCTTCCTCCTCCGTAGCCGCCACCACTTCCACTCGCTTCTTCACCGCCTCCGTAGCTGCCTCCACTTTCACCTCCAAAACCACTTCCTCCACCATGGCTGCCTCCACTTCCTCCCCTGGACCCACTTCCTCCACCATAGCCACCCCCACTTCCTCCTCCAGAGCCACTTCCTCCTCCATAGTTGCCCCCACTTCCTCCACTATGACCACCTCCACTTCCTCCGCTATGGCCACCTCCACTTCCTCCACCATAGCCACCTCCACTACCTCCTCCAGAACCACTTCCTCCACCGTAGCTGCCTCCACTTCCTCCCCTGGACCCACTTCCTCCACCATAGCCACCTCCACTTCCTCCTCCACCATAGCTGCCTCCACTTCCTCCCCTGGATCCTCTTCCATAACTGCCTCCACTTCCTCCTCGACCTCCAAGGCCAATTTTTCCAGCTCCGGAGGATTCACTAAGAAAGAAAGAAAACAAGAGAGTTAAAATGAGCGGCCCCCATACACATATATGAGGATGGACCTGGACAGAGTCAGGACCCAAACATGAATCTTTCTGTTTTCCTTCCTGGGAGGCAGAGGACAGAGTCTGGGCGGGCACCACAGCTGGGAGAGGAGAGCCTCCAGCTGAGACTGTGGAGCCCTCCCCTCCCTGGAGCAGGGAGGCAGCCCGTTCTCTCAGTGTCACCATCCTCCTTTCCCAAAGCCCAAATGCACTGAGGTCCCCCCGGCCCCCAGGATGAAGAAGTCCTCAACCCATAAGACCCTGTGTATAAGAACTTCCCCCAGCTGCCTCTATCCAGAGGGACAGAAGTAGTATCAGAGGCCTAGGGACCCCCAGGGGTTCCACCAAATCCTGGGGGACCTACAAGTCTTCCTGGCCTCCCTCAAGGAGGTTGTGGTAGGTCTCGATTTCCTTCTCCAGCCGCATCTTAATGCTGAGCAGAAGGCTGTATTCCTGATTCTGGCACTCGATCTCTTGCCGGACGTCAGTGATCTGGGCCTCCAAGTTACTGATCTGCTCCTGGATCATCTGCAGCTGGCCACAGTAGCGGTTCTTCGTGTCTTCCAAGCTCTTCTCCAGAGCTGCTTTCTAAGGGTTAGGAGAAGGCTTTAAGAGGGATGCTACATCATAACTCCTCTTCTTCCCACTCCTGGGCTGCAAAGACTTCCTGTGCCCCACCTTGGCAAAGGGTCTATAGCAGAACTACCAACCTTGCTGAGCTGAGACTGCAGCTCAATCTCCAACTCCTGGACACCGTGCCGGAGCTGGGTCACCTCCTTGGCACTGGACTGCACCTCCTGACCACTACTGGATACCTCATGCTCGATCTGGGTTATCTGCAAAACCAAAGGCTCAGTAAGCATCAGGCTGTGCCAGGAGCTTCAGTGAGTGAGATTCTGCCCCATTCACCAGGATCTTCACCTCCAGGGCCAAGGCTGATCTGAAGCCAATGACAAGTCATTCTGAGTTCTGGGTACCCTCCAGCCATGGAGGGTTGTCCAGTCCTCTCAACATGACATTCCCTCTCAACAAAGTTGCAAGACCCTTCACGCTTTGTCTCACAACCATCTTTCTAATCTAACCTTATTCCAAACTTCCCCCACCTTTCAAACATACACACACACACACACACACACACACACACACACACACACACACAGCACAGACCATGCCTTCATGTATGTGCCAGACTCTGGCTGGGCACTGGAGACTCAAGGACGAAGGGAACCACCAAGGAGCTCAGTACAGTATGGGAGACACACTGTATCCCTCTGCTATAGTCTTACATTACATAGCATTAGATTAAATTGTTCACATTCTGCTTTTGTTCACACACATCTAATAAACTGTGAGCTTCTCAAGGGCAGCAGTCTTGTTTGGCTCATATCAGACATCAATACCTCTGAGACATCAATACTTTACATATAACATGGCACTGAGAAGCTACTTTGTAATGATGTTTGTATGCAGTGAATGAAGATGGATGAATGACTTCCATTGGAAGATGGATAAATGACAGCTGCACTGAGAGATGCAGAGATAGGAGGATGAAGGAATGGGAGGTGGGAGGGATGGAGATAGGAATAGATGGAGGGGAGGAGGATGAATGGGCAGCCCACTCTGCTCACCTGAGTCTCATATTGATTCTCGATGTCCTTTCTGTTCTTAGCAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCA
|
GAAGCCTGTGGAGAGATGGAAGGGAGATGAGGGGGAGAAGGGAGGACTGTAAGCAGGAGCAGAGAGGTTGGGACTTGGGGGAAGATGGGGAAACTCGAAGCAAGGACACTAGAGCTCAAAGAGCTGGACAATCCTGAGGTAGAAGGACCCTGGGGTCTCCCAATCTACTGGTCCCCATCTAATTCCTGAATCTCTGTTGCAGCAAACCTGACAGATGCACCCCCAAGTCTGAGGATGGGGGGCTTATGAGGCAGCCCCCTCCATTCAACAGATTTGTTAGTCAATTTTTTGTATATTGAGGCAAAAGATGGCCCCAGCCTCACTCCTAGATGTATATCCATGGACCTGCAGTGCCACTGGACTCACAAAACCACATTAGACACCCTGCAGGGCAGCTCCCAAGCACCTCAAGTCTTCTCTGAGCTAAACATTCCCAGTTATATTACCCAGGCTTTTCCTATAATTTCATATTACATTTTTATTTTATAAAATTCAATGTGTACATGGGAAAATGTTCCCTGATCTAGAGACCAACTCACCTGTGTGAGCCTTTCTTACATTTAGATTATGTTCATCCTTTTGGCAGTTGCATCATGTAATACTTGTGCAAGCCAACCACTGACTAAAATCCCTGAGTCTCTTTTCCACCTGAACTGTTGCTGATCCAGGTCCCCCATCCTCATGAAGGTTGAAAGTACTGGCTGTGAAGCCCCACAGAGCTGAACCCTTCATTTGTGATTGTATGACTTTGAGCAAATTATTTTCTCTGAACCTCATTTTCCTTAAAATGGGGATTATAATAAAACCTACCTCATAGCGTGTGTCATGATAATGCACAATTTTCAACCCATCTCCTACACTACTGAGACTCAGCCATGTGTAGATTTGGTCCTAGCCTCATCCTAGGCTCTGTCAAAAATAATGATCAATTCAGAACCAAGGGTAGGTCTCTGACACCTCACTAGAGATTTCCCTAACATCTAGCTCTATTCAGAATCTGTGTTCCCCAGAGATTCAAAAATACTCAAAAAAAAAAAAAGGTGAGACCTTGACTCTCCACCCCACAACCTAGGATTGTCCCTTACCTTTTGTCTCATCTTGGTCACCAGATTTTGAGGAAGAAGACTAGGAATGGGATGATTTTCCGCTTCCTCCTCCGTAGCCGCCACCACTTCCACTCGCTTCTTCACCGCCTCCGTAGCTGCCTCCACTTTCACCTCCAAAACCACTTCCTCCACCATGGCTGCCTCCACTTCCTCCCCTGGACCCACTTCCTCCACCATAGCCACCCCCACTTCCTCCTCCAGAGCCACTTCCTCCTCCATAGTTGCCCCCACTTCCTCCACTATGACCACCTCCACTTCCTCCGCTATGGCCACCTCCACTTCCTCCACCATAGCCACCTCCACTACCTCCTCCAGAACCACTTCCTCCACCGTAGCTGCCTCCACTTCCTCCCCTGGACCCACTTCCTCCACCATAGCCACCTCCACTTCCTCCTCCACCATAGCTGCCTCCACTTCCTCCCCTGGATCCTCTTCCATAACTGCCTCCACTTCCTCCTCGACCTCCAAGGCCAATTTTTCCAGCTCCGGAGGATTCACTAAGAAAGAAAGAAAACAAGAGAGTTAAAATGAGCGGCCCCCATACACATATATGAGGATGGACCTGGACAGAGTCAGGACCCAAACATGAATCTTTCTGTTTTCCTTCCTGGGAGGCAGAGGACAGAGTCTGGGCGGGCACCACAGCTGGGAGAGGAGAGCCTCCAGCTGAGACTGTGGAGCCCTCCCCTCCCTGGAGCAGGGAGGCAGCCCGTTCTCTCAGTGTCACCATCCTCCTTTCCCAAAGCCCAAATGCACTGAGGTCCCCCCGGCCCCCAGGATGAAGAAGTCCTCAACCCATAAGACCCTGTGTATAAGAACTTCCCCCAGCTGCCTCTATCCAGAGGGACAGAAGTAGTATCAGAGGCCTAGGGACCCCCAGGGGTTCCACCAAATCCTGGGGGACCTACAAGTCTTCCTGGCCTCCCTCAAGGAGGTTGTGGTGGGTCTCGATTTCCTTCTCCAGCCGCATCTTAATGCTGAGCAGAAGGCTGTATTCCTGATTCTGGCACTCGATCTCTTGCCGGACGTCAGTGATCTGGGCCTCCAAGTTACTGATCTGCTCCTGGATCATCTGCAGCTGGCCACAGTAGCGGTTCTTCGTGTCTTCCAAGCTCTTCTCCAGAGCTGCTTTCTAAGGGTTAGGAGAAGGCTTTAAGAGGGATGCTACATCATAACTCCTCTTCTTCCCACTCCTGGGCTGCAAAGACTTCCTGTGCCCCACCTTGGCAAAGGGTCTATAGCAGAACTACCAACCTTGCTGAGCTGAGACTGCAGCTCAATCTCCAACTCCTGGACACCGTGCCGGAGCTGGGTCACCTCCTTGGCACTGGACTGCACCTCCTGACCACTACTGGATACCTCATGCTCGATCTGGGTTATCTGCAAAACCAAAGGCTCAGTAAGCATCAGGCTGTGCCAGGAGCTTCAGTGAGTGAGATTCTGCCCCATTCACCAGGATCTTCACCTCCAGGGCCAAGGCTGATCTGAAGCCAATGACAAGTCATTCTGAGTTCTGGGTACCCTCCAGCCATGGAGGGTTGTCCAGTCCTCTCAACATGACATTCCCTCTCAACAAAGTTGCAAGACCCTTCACGCTTTGTCTCACAACCATCTTTCTAATCTAACCTTATTCCAAACTTCCCCCACCTTTCAAACATACACACACACACACACACACACACACACACACACACACACACACAGCACAGACCATGCCTTCATGTATGTGCCAGACTCTGGCTGGGCACTGGAGACTCAAGGACGAAGGGAACCACCAAGGAGCTCAGTACAGTATGGGAGACACACTGTATCCCTCTGCTATAGTCTTACATTACATAGCATTAGATTAAATTGTTCACATTCTGCTTTTGTTCACACACATCTAATAAACTGTGAGCTTCTCAAGGGCAGCAGTCTTGTTTGGCTCATATCAGACATCAATACCTCTGAGACATCAATACTTTACATATAACATGGCACTGAGAAGCTACTTTGTAATGATGTTTGTATGCAGTGAATGAAGATGGATGAATGACTTCCATTGGAAGATGGATAAATGACAGCTGCACTGAGAGATGCAGAGATAGGAGGATGAAGGAATGGGAGGTGGGAGGGATGGAGATAGGAATAGATGGAGGGGAGGAGGATGAATGGGCAGCCCACTCTGCTCACCTGAGTCTCATATTGATTCTCGATGTCCTTTCTGTTCTTAGCAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCA
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Task1_train_24271
|
This sequence change occurs on Chromosome 17, altering KRT9 (keratin 9). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Epidermolytic palmoplantar keratoderma, 1
|
GTCTCATATTGATTCTCGATGTCCTTTCTGTTCTTAGCAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATTGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTT
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GTCTCATATTGATTCTCGATGTCCTTTCTGTTCTTAGCAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCGGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATTGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTT
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Task1_train_24272
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This mutation occurs in KRT9 (keratin 9) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Epidermolytic palmoplantar keratoderma, 1
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CATATTGATTCTCGATGTCCTTTCTGTTCTTAGCAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATTGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTAC
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CATATTGATTCTCGATGTCCTTTCTGTTCTTAGCAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCATCTTATCCAAGTAAGAGGCCAGCCGAGAATTGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTAC
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Task1_train_24273
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The variant affects gene KRT9 (keratin 9), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Epidermolytic palmoplantar keratoderma, 1
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TTCTCGATGTCCTTTCTGTTCTTAGCAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATTGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAA
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TTCTCGATGTCCTTTCTGTTCTTAGCAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCGAGTAAGAGGCCAGCCGAGAATTGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAA
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Task1_train_24274
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Here is a mutation in KRT9 (keratin 9) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Epidermolytic palmoplantar keratoderma, 1
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TTAGCAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATTGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAACTACCCATCTTCAGTGATCCC
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TTAGCAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAAATGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAACTACCCATCTTCAGTGATCCC
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Task1_train_24275
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Assess the clinical impact of this variant on gene KRT9 (keratin 9), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Epidermolytic palmoplantar keratoderma, 1
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TTAGCAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATTGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAACTACCCATCTTCAGTGATCCC
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TTAGCAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAACTGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAACTACCCATCTTCAGTGATCCC
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Task1_train_24276
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A genetic alteration is present in KRT9 (keratin 9) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Epidermolytic palmoplantar keratoderma, 1
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TAGCAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATTGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAACTACCCATCTTCAGTGATCCCT
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TAGCAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATAGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAACTACCCATCTTCAGTGATCCCT
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Task1_train_24277
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The variant affects gene KRT9 (keratin 9), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Epidermolytic palmoplantar keratoderma, 1
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CAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATTGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAACTACCCATCTTCAGTGATCCCTCTG
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CAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATTGAATTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAACTACCCATCTTCAGTGATCCCTCTG
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Task1_train_24278
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This variant lies on Chromosome 17 and affects the gene KRT9 (keratin 9). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Epidermolytic palmoplantar keratoderma, 1
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CAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATTGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAACTACCCATCTTCAGTGATCCCTCTG
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CAATGAGCTGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATTGACTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAACTACCCATCTTCAGTGATCCCTCTG
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Task1_train_24279
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A mutation found in KRT9 (keratin 9) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Palmoplantar keratoderma, epidermolytic
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TGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATTGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAACTACCCATCTTCAGTGATCCCTCTGACTGCCTC
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TGCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATTGAGTTCCTGCGTGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAACTACCCATCTTCAGTGATCCCTCTGACTGCCTC
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Task1_train_24280
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The gene KRT9 (keratin 9) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; not provided
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GCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATTGAGTTCCTGCATGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAACTACCCATCTTCAGTGATCCCTCTGACTGCCTCC
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GCTCATACTCCTGACGCATGTCATTGAGGGTCTTGGTGAGATCTTTGCCAGGAGCAACGTTTATCTCCACATTGACATCTCCACTGTTCTGCCCAGTCAGCTGACTCATCTCCTGCCAGGGAAGAAGGGGAGATGAGGTCACGGATAAAGTCCTCTGCACCACCTTTCAGAATTCTCCCTCTGGTCCCCCCAGGGTACAAAAAGGGGACACAGTTGTGAAGCCAAAGCCCAACCACTACCATAGGTGATGCCAAGGAGAAGTTGAAAGTGTCCTCAAGAGCAAAGGAGAGGGTGTCTCCCAGGTAATGTTCCAAAGCTCCCCTGCTGTCTCTGCATTTCTGCTCCTCCCTCTTCCCGGTAAGCCATAAGCCCCAGCAACCTACCTCCTTATGATTCTTCTTGAGGGCCATCAGCTCCTCCTGCAGAGTCTCATACTGCATCTCCAGGTCAGACTTCTCCATGGTCAGATTGTCCAGCACCTGCCGCAGGCCATTGATGTCAGCATCCACTCCTTGCCGCAGGTTTTGCTCCATCTCAAACCTGCAGACCAGCCAGGGTTAGAAAACAATCAAGAGGGAACCAGGCCCTACCAGGACCTCCAGAGCACTGAGGTTCAGGGGTAAGGGCTGATGACAGGAGAGGAGAAGAGGAGCAGGACTCACTTTATCCTGAAGTCATCCAGTGTCATGCGAGTGTTGTCAATGTCCAGGAGAGTTTTGTTGTTGCCCACTGTCAGGTCCACAATCTGAAAAAAAAAGGACACAGCCATGATATCATGCTGTGGACCACTGCTGAGAGGGCAAGAGGCCAGGCAAAGCCACAGGAGGTGAGGATTCCATCCAGGAAGATTCTCAAGAGGAATGAGGAACTTCCAACAGCTGGGACATGGCACAGACCCCTTCCAGCCTTCAGCGAAGATGTTTGGTGTGGCCTTCATTCATTCATTCAACAAATATTTGAAGATCTACTGCAAAGGGCATTGTAGGATTTAGAGATTACTGACATCCTGTTCCTCAGGGAGCCCACCATTGACTACAAAGTCAAAAGTGTCCTAAAAGAGTTCAAGGAAAGGAGAGGTGGCTTATGGCAATGGGAGATCAAGAAAGACTTCAGGAAGGAGGTGGCTGGCAATTGAATTGGGCCCTGAAGGATGGCTAAGATGTAACATTAATAAATAAATGGAAGAGGTTTAGAGTAGAAGAAACAGCACATTCAGAGACATGCAGGAGTTAAAACAAGAGGAATCACTGAGAATACTGAAGAGCCAGACCGTGAGCTCCACCAGAACTAGGTCTAGCACATCACTATGTCTACCCAGAGCAACCCTGAGGGTAGGCACTCACTGAACTGAGTGGCTGAATAAATGGATAGATAGATAGACATGTGGGTGGAGGGAGGAAGGGATAGATGGAAGGATGGATGGATAGATAGCTTCCATTCCCAGATTTCTGGATCCTCTCCAACACTTGAATAACCAACATGTACAGTCAGGTCCAAAATACCTTAAAAGATCAAGATACACTCCTAAAGAAGCCCAGGAGAAGTACAAAGGAAGAGAAAGTATTGACTTAGACCAAACCTAAAGGAGGTTCCACATCCAGTCCCAGCTCAGCTCACGTTAACCCAGGTCTCCTCTCTGCTCTGCCCAAACTCTGAAAGTTGAGGAAATGGAAGTGAACACTCAGAGCACAGGCCAAAGTCCTATCCTGGGATCCCCAGAAACCAAACACAAGTTTGTTTCTGATGAAAGCGTACATTTCCAAAAGGTGGATTCCCTGGCTATTATCTGAGCTTAGAGTTTAGCATTTTAACTTTTTTGGAAGATAAAGAATGAAAGAGAAAGAGACCAAGACAGAGACAGTTTCCTGCACCTACCTGGTCCTTGAGATCATCAATAGTGTTATAATAAGGGGAGTAGTTCTTCTGGATAGCAGCAGGTCCCTTCTTGTCGTACCAATCCTGGATCTTATTCTCCAGGTCGTTGTTGGCCTCCTCTAGAGCCTGCACCTTATCCAAGTAAGAGGCCAGCCGAGAATTGAGTTCCTGCACGGTGCTCTTCTCATTAGCAGTCAGAATACCACCATCACCTCCTCCAGCACCACCTCCAAAGCCCCCAAACCCCCCAAACCCACTCCCATAGCCACCACCAAAGCCACCTCCAGAACCACCACCAAAGCCACCTCCAAAACCCCCAGAACTACTATAGCCTCCTCCAGAAGCACCACCAAAACCTCTGGAACCACCCCCAAAGCCACCGCCTAAACTACTGGCACTAAAACCACCCCCAGATCCTCCGCCGTAGCTGTAGCCAAAACTGCCACCGCCTCCCCTCCCACAGACACGAGAGCTTCCCCCACCATAGCCACTAGAAGAGCTGAATCGGCCCCCTCCTCCACCGCCCCCTGAGGAGCTGAAGCGGCTGTAGGAAGACCTTATGCTGCCCCCGCTGCCCAGGCCGCCCCCGCCACCCCCGCCGCTGCGGCTCAAGTAGGACGAGGAGAACTGTCTGCAGCTCATGACACAGCTGGTAGCTCACGGGTTGAGAAGCAGTGATAGGAGTGCTACCGGCTCCCAAGTGCAGGGTACAGAGCTGTCCCTGGGGCTGCCTACTTATACCCCCAGCTGAAGGTGGCACGCCTGGGTGTGCCCTTGTTCTGTGCCAGCCTCCCCCCACAGACCCGAGGGAGGTCTGGGATACGGAGGCAGCCGGGCTGCCCCAGGCTCAGCGTCCTTTGGTGACTGCCTGGGGGCGGCCCAGCCTCTCTCCATTGTGTGGGATAATTTGATGACATTAGGCTGTCAGGGCCACCATAAATCAGCTGTACTGCCACAGGGGTGACCTAGATCCTGGAGTCTGGTCTCTGGCTGGCCCCAACAGCAGGTCTGAGACTTAGCCCCTTCGGGATAGAAACTCCCAAGAGCAGAGTCACCTCCTCTATTGATGGTCATTACTGTCTGCATCCCTCATGCCTCCTTGCTCCCACCTTGTGCCCACTGTGAGCTGAGCTGGAACTAGGGTACTAAGGAGTTATCATAGAGGAGGGGGAGGCACAGCCCCTGCCCTTGTGGAGCCCCAAATGGATGAAAACCAATCCTTGCTCTCAGGATCCTCGAGGCTTTCTGCAGAGTCTGAGGCTCTGCCCTTGGGAGACTCCAGTTTGATGAGGAGGCAACTGGCATGGCCAAAAGATGGAGACGGGCACCGAGACCATGCCCGCCAGCACTAAAGGACAGCGTGCAGAGTTCACACAAAGGGCTGGAAGAAGAAAGTGGACCAAATAAACAAGGTGGTGCTGACACTAGCTGACCTCTGAGCAGGAATGCAAGTGGCTCGACTGTCCTGGTCCTTTTGCAGGGCCCAGCAGGGAGTGTGGAATTGACCTTGGTTGAGTGCCTACCCCATACAGAACTCTGGAGGGGATACAGAGATGTGTGACTTATCCCTGCTCCTGGCAGAAACTTGGATGTATATTCTGGTCACCAAGGCCAGAAGAGAATGGTAAAGAACACGCTGGTCTCCGGTGTGCCTACCTGAGCTCCATCCAGCTCCATGCTCATGAGCTGTGTGACTTTGATAAGTTACTTAAATACTCTGTGCCTCAGTTTCCTCCTTTGAAAAAGGTTGATATGAGTAGTTTGTCCATCTCCTAGTAAGAGACTTGTGAGAAGTGCTCAAAAAATGTTCGGCTGCCTCTGATCATTCAGCCCCCTAACTCCCCGTCAACTCTGCCCTCACCCAGACCTTAGCCATGAGCTTCTAACTGCCCTCCCTGCCTCTCCCATTCCCTCTGACTCTTCCTGCACAGCAGCCAGAATGACCTTTCTAATCCATGTCTGACAACATCACTTCACCAGTTTCCCTCCACCCTCAAGATAAGGTCCACATTCCTGGCACTTAGGCCCATCCCCATCTTTCCATTCCTGCCCCATCTCCCACCATCCCCCAGGCCCCCTAGAAAATCATACAATGCTTCCCAAATGCCCTTCTTCCCTCTAAGAATACTCGGCACTTGCAGTGACCTCTGATTGAAATGTCCCACTCCATCTTTTCTACACAGAAAACTACCCATCTTCAGTGATCCCTCTGACTGCCTCC
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Task1_train_24281
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This mutation is located in gene KRT14 (keratin 14) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Epidermolysis bullosa simplex 1C, localized
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ACCCACCTCTGGAATCTTCACCACTTACTAGGGTGAGGCTCCTTGCCTTCCCACTCCTTTTCTAGCCCCCCAAAGAGAAGGAAAGGCATTCCCCACCCAGGGGAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCA
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ACCCACCTCTGGAATCTTCACCACTTACTAGGGTGAGGCTCCTTGCCTTCCCACTCCTTTTCTAGCCCCCCAAAGAGAAGGAAAGGCATTCCCCACCCAGGGGAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTTGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCA
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Task1_train_24282
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A variant was discovered on Chromosome 17, affecting KRT14 (keratin 14). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Epidermolysis bullosa simplex 1A, generalized severe
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CTGGAATCTTCACCACTTACTAGGGTGAGGCTCCTTGCCTTCCCACTCCTTTTCTAGCCCCCCAAAGAGAAGGAAAGGCATTCCCCACCCAGGGGAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCT
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CTGGAATCTTCACCACTTACTAGGGTGAGGCTCCTTGCCTTCCCACTCCTTTTCTAGCCCCCCAAAGAGAAGGAAAGGCATTCCCCACCCAGGGGAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCTGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCT
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Task1_train_24283
|
A genomic change on Chromosome 17 affects KRT14 (keratin 14). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Epidermolysis bullosa simplex
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CCACTTACTAGGGTGAGGCTCCTTGCCTTCCCACTCCTTTTCTAGCCCCCCAAAGAGAAGGAAAGGCATTCCCCACCCAGGGGAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCT
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CCACTTACTAGGGTGAGGCTCCTTGCCTTCCCACTCCTTTTCTAGCCCCCCAAAGAGAAGGAAAGGCATTCCCCACCCAGGGGAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGCAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCT
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Task1_train_24284
|
A genetic alteration is present in KRT14 (keratin 14) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; not provided
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CACTTACTAGGGTGAGGCTCCTTGCCTTCCCACTCCTTTTCTAGCCCCCCAAAGAGAAGGAAAGGCATTCCCCACCCAGGGGAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTG
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CACTTACTAGGGTGAGGCTCCTTGCCTTCCCACTCCTTTTCTAGCCCCCCAAAGAGAAGGAAAGGCATTCCCCACCCAGGGGAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTGGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTG
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Task1_train_24285
|
The variant affects gene KRT14 (keratin 14), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; not provided
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TGAGGCTCCTTGCCTTCCCACTCCTTTTCTAGCCCCCCAAAGAGAAGGAAAGGCATTCCCCACCCAGGGGAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGC
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TGAGGCTCCTTGCCTTCCCACTCCTTTTCTAGCCCCCCAAAGAGAAGGAAAGGCATTCCCCACCCAGGGGAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTTCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGC
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Task1_train_24286
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A mutation on Chromosome 17 affecting KRT14 (keratin 14) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Epidermolysis bullosa simplex
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CTTGCCTTCCCACTCCTTTTCTAGCCCCCCAAAGAGAAGGAAAGGCATTCCCCACCCAGGGGAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAAC
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CTTGCCTTCCCACTCCTTTTCTAGCCCCCCAAAGAGAAGGAAAGGCATTCCCCACCCAGGGGAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCTGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAAC
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Task1_train_24287
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A variant affecting Chromosome 17, within the gene KRT14 (keratin 14), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Epidermolysis bullosa simplex
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TTCTAGCCCCCCAAAGAGAAGGAAAGGCATTCCCCACCCAGGGGAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCT
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TTCTAGCCCCCCAAAGAGAAGGAAAGGCATTCCCCACCCAGGGGAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCCGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCT
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Task1_train_24288
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This alteration in KRT14 (keratin 14) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Palmoplantar blistering
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GAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCC
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GAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCAGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCC
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Task1_train_24289
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This gene mutation involves KRT14 (keratin 14) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Skin fragility with non-scarring blistering
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GAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCC
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GAGTCTCCTACAGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCAGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCC
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Task1_train_24290
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Given this variant in gene KRT14 (keratin 14) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; not provided
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AGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCT
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AGTCCTGGCTCTTAAGGTATAGTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCGGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCT
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Task1_train_24291
|
A variant has been detected on Chromosome 17 in KRT14 (keratin 14). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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GTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCT
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GTCACTCATTGGATTCTTGTATCAACCTCAAGAGGCAGGGCTCAGCATCCTTACTATACAAGTAAAGACACTGAGACTCAGACTTTCCAAGCTCACATCTGTTACAGAACAGAGCCAGGGTTAGAAACCAGTCTATTCTCAAACCCTCTAAAAATGCTCTCATCGTGAATGGATAATCACCATGCCCTAGAGATAGTTTACCCAGTATCGCCAGCACAGCCATGCCTTGAGCCAGCACTATGCCAGGCCCTGTGCTGGAGGCCTTAAATGCATTCTTCCAGTGAATTCTCCCAACAAGCCCATGAGGTAGATACTATCATTATGCCCCTTTTACAGAAATGGCAGCTGAGGCTGGGAGCTGGTCATCAACTTGCCCTAGGTTAACCAAGTGTAAGAAGGATTAGATCCAGCACCAGAGGCAAGAGCAGGTGGGGTGGAGGGAGACAAGACTGTCAGGAGAGCTTGAGTTCCTACTTCGGTTCATGGACCTCCGGTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAGTCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCT
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Task1_train_24292
|
A variant was discovered in gene KRT14 (keratin 14), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Epidermolysis bullosa simplex, Koebner type
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GTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACT
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GTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCCTCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACT
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Task1_train_24293
|
A mutation in KRT14 (keratin 14), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Epidermolysis bullosa simplex
|
GTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACT
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GTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCGTCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACT
|
Task1_train_24294
|
A mutation in KRT14 (keratin 14), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
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GTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACT
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GTAAGGAGCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCGTCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACT
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Task1_train_24295
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Given a variant located on Chromosome 17 and affecting KRT14 (keratin 14), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Epidermolysis bullosa simplex, Koebner type
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GCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCACATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCC
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GCTCTAGGAGACCCATGAACCCCATGACATTGTATGCAAATGTATGTATGCTTATTTGAAGGTAGGGGGCAGAAGGAAAGATCTATAGCTTTCAATATTCTCCAAGGAATCCCTGATCACAAAAACATCAGGAATCCTTAACCTAACATAGTGCCTGACATAGAGGCACTCAATATCTGGTGAATGAATGGACACACATGAAAATGAGTGAGTAAATGAATGAATATCCCTCCGTACCCTAGGAGACACCACATATGACCTGGTACACACATCTATCTGTGTCTTCTGAGATGGCGAAAGATATCCTGGGACCTGAGCCCAACCCACCCCCAGGACTTTTCTCCCAGTCCCAGGGGCCATAGCCAGGTGCTATGACAAGCTCCAAAGAGATGCTTCTCCCACTTTCTCCCCACCCCCACTCCTAACAATGACCAGAGAGAGGCGAGAATTATGCAACTCAGATAATGAAGCTGTATTGATTGCCAGGAGGGGGTGAGGGTGAAGCAGGGTCCAGCTGTGAAGTGCTTGGGCAGGAGAGGGGATCTTCCAGTGGGATCTGTGTCCACACGGGGGGCCTCCTAGGCCTGAGCGGGGCTGGGCAGCCTCAGTTCTTGGTGCGAAGGACCTGCTCGTGGGTGGACACCACCTTGCCATCGTGCACATCCATGACCTTGGTGCGGATTTGGCGGCTGGAGGAGGTCACTGGGGAAGAGGTGGGAAGAGGACGTTACCAGAGGTGGACAGACAATGGACTAATCAGGAGTAAGGAGGCCAAGAAGGTGAGGAAACTCAAACTGGCTCCCCATTGCCCTCTCCCCTGATTACTGCTTCACTCCCTGCTGTTGCCCAAGCACTGATACCATCAACACATTTCTTTCAGACGAGGGCTCCCAAAGGTCAGAGACAGAGTCTTTGCCCTCAGATTAGAGCTTCCTAAGAGCTCACACCTGGCTGGTTCCATCCATATTCACCCAATGGAGTGGTCTCAGTGGGAAGAGCCCTGTAGGGCCCTGTTCATGGTGCTGACCACAACAGCAATAGGATCTGCCACAGACACCACGTAGAAGCAAGAGGTGGGGGCTGCCTCTCCTAGCCCTAAGGAGGGTTTAGAAAATAGCTTCTTCCACCCAAGGAGGTTCACAAGGGAAACTGGGTGACAGCACTAGAGCTCAGCCCCTCACGGAGCCCCTAGCCAATGCCTAGACCTGCTTGGGGTACAGAGGGTGGCCTGGAGCCCAGGCCTGCAGAGGAGGAGGGTCTTACCATCTCTGGATGACTGCGATCCAGAGGAGAACTGGGAGGAGGAGAGGCTGTGAAAATAGAAAAGGACAGGATCATTAGATACATGGTGGGGCCGTGAGAGTGCCATGGGGGGGGCGGACTAAGGGGAGGGCCAAGACTCACTGGGCGTCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCGATCTCCTGCTCCAGCCGCGTCTTCACGTCCAGCAGGATCTTGTACTCCTGGTTCTGCTGCTCCATCTCGCAGCGGAGCTGGGCCAGCTGCTCCTCCACGCTGCCAATCATCTCCTGGATCTGGGCCAGCTGCATGCAGTAGCGACCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGTGAGGGAGGGAAAGGGAATCAACGATTAGTGAGTGTGGCCGTTCTCTCCCTGCCAGTCCTGGGTGCACCACCCTTCCTGGCACTATTCCTACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGTTCTGCATGGTGCGCCGGAGCTCCGAGATCTCGCTCTTGCCGCTCTGCACCAGCTCGCTGTTGGTGGCCACCTCGCGGTTCAGCTCCTCTGTCTGCAAAAAAGAGAATGCCATTCACACCAGAAGGCCCCAGAAGGCAGGTGGTCTGGGTTCCTTCCACCTCAAATGACACCCACCTTGGTGAAGAACCATTCCTCGGCATCCTTGCGGTTCTTCTCTGCCATCTTCTCATACTGGTCACGCATCTCGTTCAGAATGCGGCTCAGGTCCACGCCAGGTGCAGCGTCCATCTCCATATTGACATCTCCACCCACCTGGCCTCTCAGGGCATTCATCTCCTGCACAGCCAGGGACAGTCCACAGTCAGGAGTTCCACCATGGCAGCGGATTGGTGTTCCTTAGGCCTGAATACTGCCCTCCCACCATCACAATTCTATCTCGACTCTCCCTTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGACAGGGTCTAGCCTTGTTGCCCAGGCTGGACTCAAACTCCTGTGTTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACGCACCACTGTACCCAGCCTCCCTGCATTTCTTTTAAGCTGACTTTTCCATATAGTTCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTCAGGCTCTCAATCTGCATCTCCAGGTCAGCTCTGGCCAGGGTCAGTTCGTCCAGCACCCTGCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCC
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Task1_train_24296
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The gene KRT14 (keratin 14) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
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GCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTG
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GCGCAGGCCATTGATGTCGGCTTCCACACTCATGCGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTGCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTG
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Task1_train_24297
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This is a variant in KRT14 (keratin 14), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; Epidermolysis bullosa simplex
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CGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAG
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CGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCAACTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAG
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Task1_train_24298
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A variant has been detected on Chromosome 17 in KRT14 (keratin 14). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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CGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAG
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CGCAGGTTCAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCATCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAG
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Task1_train_24299
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Here is a mutation in KRT14 (keratin 14) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; not provided
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CAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGA
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CAACTCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCGGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGA
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Subsets and Splits
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